Post Graduate Clinics in Pediatrics

Ajouté : 2026-05-21

[00:00:15]Good evening sir.

[00:00:17]>> Good evening.

[00:00:18]I've joined audible and visible.

[00:00:24]Yes sir. Yes sir.

[00:00:31]Join.

[00:00:36]Shall I start?

[00:00:46]Uh yes I can bajia exact.

[00:00:51]>> Yes sir.

[00:00:52]>> Yes.

[00:00:52]>> Yes sir.

[00:00:55]>> How many people have joined? About 20.

[00:00:57]>> So there are 13.

[00:00:59]>> No 17 >> including the panelist. Yes.

[00:01:04]>> This is including total. Yes sir.

[00:01:16]Minute then you start.

[00:01:21]Okay sir.

[00:01:36]from the history then. Sure.

[00:01:39]>> Okay sir.

[00:01:39]>> I think we can start.

[00:01:41]>> Okay sir. So good evening everyone. Uh today's topic of discussion today's case presentation is on a patient who is uh of a transfusion dependent bleeding disorder and with a few complications >> not bleeding disorder it is a blood disorder >> blood disorders obviously >> yes >> so patient Lee who is an 18year-old male child is a resident of Delhi he's a Cindi by cast and informant was himself.

[00:02:16]So the chief >> remember you have said two important things resident of Delhi and Cindi cast.

[00:02:23]Yes sir.

[00:02:24]>> Okay.

[00:02:26]>> So uh coming to the chief complaints he presented with the chief complaints of pain in bilateral lower limbs since 2 months and he was admitted currently for routine transfusion and other supportive therapy.

[00:02:40]So the patient started complaining of pain in bilateral oval limb since 2 months which was gradual in onset and it was progressive. The pain was severe enough that he was unable to sit or stand and he was and it was partially relieved on all medications.

[00:02:56]There was no history of trauma or fall.

[00:02:58]>> Can you just keep on explaining side by side why did you ask for history of this and that?

[00:03:04]>> Yes sir. Now he's you have a patient who is complaining of pain in both lower limbs for the last 2 months and >> it is progressively increasing.

[00:03:13]>> Yes sir. So I have asked for history of trauma for to rule out any um fractures joints.

[00:03:23]>> No not fracture trauma may be without fracture also it may be a tear soft tissue injury also >> not necessarily a fracture. Okay.

[00:03:33]>> Yes sir. All right.

[00:03:34]>> Yes, sir.

[00:03:36]>> Go ahead.

[00:03:38]>> Uh, other than that, joint swelling, redness or warm >> to look for any inflammatory cause of bilateral lower limb pain.

[00:03:46]>> Right. Fine.

[00:03:46]>> Like arthritis.

[00:03:49]>> Yes.

[00:03:49]>> There was uh I asked the history of fever to look for infectious causes. It could be um osteomiitis or it could be any uh systemic illness which can involve uh bilateral over limbs. Then morning stiffness, rash, multiple joint involvement to look for uh autoimmune causes like rheumatoid arthritis.

[00:04:08]>> Then weakness, numbness, back pain, bobble bladder involvement to look for the spinal cord involvement and nerve compression that can cause bilateral over pain. Transfusion reactions.

[00:04:20]>> Uh >> what kind of transfusion reactions?

[00:04:23]>> Sir, there could be um following transfusion reactions. There could be fever, there could be rashes and other.

[00:04:31]>> But it is for last 2 months. He's not been getting transfusion for 2 months.

[00:04:36]>> Yes sir.

[00:04:37]>> What kind of reaction do you react?

[00:04:40]>> It could be delayed transfusion.

[00:04:42]>> Delayed transfusion reactions. Yes sir.

[00:04:45]>> Delayed may be hemolytic or maybe non-immolytic in the form of these type of joint pains or something like that.

[00:04:53]Okay. Rashes.

[00:04:54]>> Yes sir.

[00:04:55]>> Okay.

[00:04:55]>> Yes sir. Then there was no complaint of inability to bear weight or deformity.

[00:05:01]Again for vertebral column compression uh fast otherwise we'll be stuck on history only. Okay.

[00:05:09]>> Bone swelling to look for any malignancies or uh that can cause bone swelling weight loss appetite night sweats for again malignancies and TV worsening valor or jaundice or high color during to look for any acute hemolytic crisis.

[00:05:26]Okay.

[00:05:27]>> And uh uh killation and transfusion history because uh undertransfused or non-cilated people uh can have increased risk of complications of uh u uh bone related complications like osteoporosis and delayed puberty or hypothyroid symptoms because again uh a very important cause of osteoporosis would be uh hypogonadism or >> but why are you thinking of h osteoporosis? Who gave you this idea?

[00:05:54]He's complaining of leg pain and you are thinking of tuberosis. What? There are so many causes of leg pain.

[00:06:01]>> Yes, vitamin D deficiency could be there. It could be because of s because in a long-standing transfusion transfused patient um it is very likely that he might have a low bone mineral density provided that he's um >> okay you can think like that because since he's a very >> regularly blood transfusion on dependent on blood transfusion right from beginning the likely diagnosis which comes to your mind may be associated with which is commonly associated with bone problems >> like osteop osteoporosis or osteopenia or something.

[00:06:41]>> Okay. Fine. Next.

[00:06:43]>> So the patient was evaluated in on an OPD basis. A dexa scan was done and he was reported to have a low bone mineral density for which he was advised six monthly injections along with blood transfusion.

[00:06:58]So the patient was diagnosed with a blood disorder that requires blood transfusion at 3 months of age. Since then he underos regular transfusion every 15 to 20 days at Dindalupia hospital. The last transfusion was administered on 10th of May.

[00:07:11]>> You can say a hospital in Delhi need not mention the name of the hospital. Okay fine you can you need not it's not good to mention any names say in the history.

[00:07:24]Okay sir. Last transfusion was administered on 10th of May.

[00:07:30]>> 10th of May. Pre-transfusion hemoglobin was 8.5 and there was no history of uh transfusion related reactions.

[00:07:38]>> Okay. Yes.

[00:07:39]>> So the patient receives regular pack red cell transfusion every 15 to 20 days and uh he also takes iron killation which is depraox 1500 mg per day and defron four capsules per day. He also takesone supplementation.

[00:07:58]>> Daffron is available as >> tablets or capsules.

[00:08:05]>> It's available as capsules 5250 mg.

[00:08:09]Okay. Fine. So it is not available as tablet. Outside it is available. Yes.

[00:08:17]Frox.

[00:08:20]Okay. Right. Yes sir.

[00:08:25]Bisphosphonate. How do you know?

[00:08:27]>> Moving forward, uh patient is >> No, go back. Bisphosphonate therapy. Who told you this?

[00:08:34]When was he given?

[00:08:36]>> Sir, uh when he was evaluated and he was found to have a low bone mineral density on the Nexus scan, >> he was given some injection every 6 months.

[00:08:48]>> Yes sir.

[00:08:49]>> How do you know it is bisphosphinate?

[00:08:53]um >> low mineral density. There are other injections given which are given six monthly.

[00:09:00]>> Uh sir most likely >> what is that?

[00:09:04]Uh >> not bispans other one >> um >> denosumab >> denosumab yes sir >> and that is also given 6 months so you can't say definitely it was bisposate >> fine ch never mentioned like this name of the medicines in some injection was given though you don't know which type of because they are both given at 6 months bisposinate can be given monthly also >> one month three monthly Also different preparations are available. It can be given orally also. Okay.

[00:09:39]>> Yes sir.

[00:09:40]>> Okay.

[00:09:40]>> Orally.

[00:09:42]>> So patient is born out of a non-consinous marriage. There was no history of similar complaints in family members.

[00:09:50]>> The elder siblings were careers.

[00:09:53]Uh the birth history was non-significant. She he was a full-term normal vaginal delivery with a 2.6 kg of birth weight. No nicu stay. He achieved all milestones at appropriate age. He was immunized as per IAB.

[00:10:08]>> Yeah, this much of history it's enough for an 18y old. You don't have to go to the birth history but consanguinity of course is important in this. Okay.

[00:10:18]>> Belongs to upper middle class. Okay. Now you summarize the whole thing. Come on.

[00:10:22]Let's summarize it.

[00:10:24]>> So this is an 18year-old male who is third in birth order. Is Cindi by cast res.

[00:10:30]>> Cindi by cast. Does what does it mean?

[00:10:33]>> So there are some >> you have mentioned the diagnosis likely to be transfusion dependent alotheia.

[00:10:38]What are the other conditions which require regular blood transfusion at this age?

[00:10:45]>> At 3 months of age or >> 3 months of age are different conditions and now going through every monthly or every 3 weeks or every two weeks up to 17 18 20 years. What are the condition where you need regular blood transfusion >> at 3 months? What are you thinking of?

[00:11:03]>> If I say that when he was diagnosed at 3 month then >> sir it could be because of reduced red blood cell production or could be because of increased red blood cell destruction. So if it is reduced red blood cell production then there could be conditions like diamond black penmia or there >> first you will mention diamond black fun. No sir, no sir. Relatively less common but I am just sir trying to go by the uology.

[00:11:33]>> This is going by Google not I don't want Google knowledge here.

[00:11:40]>> Think of normal condition there. See >> given the >> what are the condition presenting at birth who require blood transfusion.

[00:11:50]Um sir plastic anemia >> plastic birth congenital plastic anemia >> siropois it may present early also so within 6 months >> bleeding see hereditary sperocytosis may present >> severe forms yes >> severe form may present Then CDA you are saying but that is a diff rare condition and only type one presents early otherwise type two is a mild type and it presents later on as a mild condition. Okay. Think of himic disorder.

[00:12:39]>> Yes.

[00:12:39]>> When the child presents earlier we used to say that 6 months to one year they will present. Now with more awareness doctors also being aware if child is otherwise okay there are no other obvious causes of anemia then it is likely to be talismia or other other complaint other things >> um sir >> I say he is 9 months 8 months what are the other possible conditions >> um so the ation call >> sir again >> so many conditions.

[00:13:28]>> Yes sir.

[00:13:29]>> You can divide them in groups.

[00:13:31]Himmolytic conditions failure syndromes.

[00:13:35]>> Yes sir.

[00:13:35]>> Then you have >> storage disorders.

[00:13:38]>> Storage. Yes sir. Then you have infective causes >> CMV torch infections could be there >> or how do you roll out storage disorder with youth spill you know mal we have not come to that so I will not discuss that okay yes sir >> so these are the likely conditions which may present in first year of life and may require blood transfusion from the history point of view if you see there will be a family history of either splenctomy or gallbladder involvement in case of >> hereditary sperocytosis. Yes sir.

[00:14:16]>> Okay. Because it is a auto dominant condition.

[00:14:19]>> Dominant condition. So one of the parents might be having similar problem recurrent jaundice. G autotosomal dominant this ferocytosis patient they present at birth with severe jaundice also they may present.

[00:14:34]>> Yes sir.

[00:14:36]>> Okay. Then you have other conditions like talismia which gradually presents irritability, feeding problem and all that and there may be a family history of somebody receiving blood transfusion but it is an >> autotosomal recessive condition >> recessive disorder. Okay. Then other syndromes bone marrow failure syndromes are there. But then infective causes may never forget disseminated tub tuberculosis you should mention always in cases of severe hpatomogalic that but severe anemia may be presenting feature of malaria.

[00:15:18]>> Yes sir. Okay. They may present >> hemolytic >> and then heological malignancy though it's rare congenital leukemia may also be presenting here. Then you have pure red cell anemia.

[00:15:31]>> Yes sir.

[00:15:32]>> Then other anemia where uh >> okay then those conditions they have >> all the cell lines are affected. No, they have bony problems also along with the anemia.

[00:15:52]>> Bony problems are also there. Yes sir.

[00:15:53]>> Yeah. Visible bony problem. Okay. Now coming to the conditions which you mentioning act 18 years 15 years. What are the conditions that may present with this?

[00:16:06]>> Um sir it could be uh >> with recurrent anemia child otherwise doing well.

[00:16:12]>> Cle cell anemia could be there.

[00:16:14]>> Sickle cell can be present. Yeah, >> severe variety of cle cell may present in infancy also. It may present but what are the how you clinically differentiate a cle cell from other conditions?

[00:16:28]Um cle cell have recurrent cle cell crisis crisis we know disorditis and >> yes sir >> okay swelling of the joint bones yes >> yes sir >> dact it may present so cle cell they don't generally they don't require regular blood transfusion like this so number one condition if a child is otherwise Not having any other major problem is these which requires regular blood transfusion throughout. What are the other conditions you can think of?

[00:17:07]Sickle cell you have said. Okay.

[00:17:10]>> At this age.

[00:17:13]>> So enzyatic defects could be there like pyro deficiency anemia and then enzyatic PKD. They are Yes, >> those disordered you think only when you have ruled out other possible causes.

[00:17:30]you got the test done and you find it is not the same then you will think of PKD and other conditions okay you don't think of them but >> then you have other conditions like alastic anemia but alastic will not have this type of regular transfusion and you will not have other symptoms like features of thrombocytoenia a al aic you will have lucopenia also so they will manifest with recurrent infection bleeding or something or the other but they will not have simple journey with regular blood transfusion.

[00:18:07]So the main conditions that >> makes it isolated is talismia major.

[00:18:14]>> Talismia. Yes sir.

[00:18:15]>> What is the other name for talismia major?

[00:18:19]>> Sir Koulie's anemia. Now nowadays what do you call Koulie was the one who ky's anemia was in 1925 when he discovered any this describe this condition nowadays we call it transfusion dependent transfusion dependent >> and the other variety is >> NTD or nonrusion which includes intermedia >> yeah that's okay or you have said that regular blood transfusion compliant and with oration not having any now having bilateral limp secondary to low bone mineral density associated with regular blood. Now we come to examination. Okay. Go ahead.

[00:19:02]>> Okay sir.

[00:19:03]>> This is an orthodal. You said Cindi. Why Cindi?

[00:19:07]>> Yes sir.

[00:19:08]>> Sir because uh there are certain casts where there is increased uh >> can you name four five sir? Cindis, Gujaratis, Punjabis, um >> Bengali, Saraswats.

[00:19:24]>> Yes sir. chance now there is no because of intercast marriage there is no cost which is spared but it is more common in Punjabi Cindi Gujarati marwaris and gods and saraswat and all that what is the incidence of incidents I'm asking of talismia how many talismia births take place in India in a year roughly >> I'm not aware of the figures >> 10 to 15,000 remember it is expected that we have somewhere between according to the what is the uh number of or percentage of people carrying talismia minor they are also called traits and carriers >> carriers >> yes now can you tell me the percentage >> um so around 5% >> 3 to five 3 to 4% on an average in India >> yes sir Okay, that is the prevalence of talismia minor in India.

[00:20:29]>> In in this part of country, North India, which type of talismia is more common?

[00:20:36]>> Uh, >> beta talis.

[00:20:41]>> Yes.

[00:20:42]>> Betaalism.

[00:20:43]>> Beta as we inhal.

[00:20:45]>> Yes. Eastern side of India. Bengal, Sam.

[00:20:49]Then you go beyond that Myanmar. Then you have in Hong, Thailand, Hong Kong, all those Singapore, all those places is also very common. But here we have we mainly see betthalmia.

[00:21:03]>> Okay.

[00:21:14]informed consent.

[00:21:15]>> Okay. Okay. Come.

[00:21:17]>> Yes. Yes. Yes sir. Tell it.

[00:21:19]>> So the vitals the pulse rate was 88 beats per minute. Respiratory rate was 24 per minute. BP was 110 by 80. SPO2 was 98% on temperature was 90° F. Pal was present. There was no express lymphopathy or edema.

[00:21:36]>> Mix you will find he's 18 years 110 is good BP for him.

[00:21:40]>> Yes sir. Generally have a slightly lowerility >> because of the vasoddilated circulation.

[00:21:48]>> Circulation.

[00:21:49]>> Okay. Right. Next.

[00:21:52]>> Uh so coming to the headtotoe examination the hair, eyes, oral cavity was normal. There was no prominence of cheekbone. No maloclusion was seen in the teeth.

[00:22:00]>> Can you describe the emolytic faces?

[00:22:04]>> Uh so there are prominent maxillary protoberances. Then there is uh protruding um there can be u prominent teeth are there because of the >> maxillary >> mal occlusion of teeth both >> mal occlusion of teeth >> depressed bridge of nose prominent frontal >> frontal and parietal prominences >> and um >> okay these are the main prominence these Um that is classically described as talismic or homolytic faces prominent cheekbone. All this is because of >> extraary.

[00:22:48]>> Yes. Extraary. Come next.

[00:22:52]>> So >> did you check skin?

[00:22:55]>> Skin skin. Skin. Why did you check skin for normal? No dryness observed. Why dryness?

[00:23:02]Do they have less sweat production? No.

[00:23:07]>> No sir.

[00:23:08]>> Iron deposition.

[00:23:10]>> What does it >> he u >> see iron deposition will give a different color to the >> pigmentation? Yes.

[00:23:20]>> What is the type of pigmentation? What is the color of the pigmentation? Come on.

[00:23:24]>> Brownish. Brownish.

[00:23:25]>> No, brownish. It is grayish black.

[00:23:29]>> Okay. Okay. It is a dark color like we all have vitish color.

[00:23:35]>> It is a different type of vish color. It is grayish brown color.

[00:23:40]>> Brown color. So if you see few cases of >> uhmia with this thing iron deposition in the the it is because of stimulation of the melanocytes and as well as deposition of the iron in the skin directly out. Okay. So after you've seen lot of cases of talismia from the skin complexion and color you can say easy is to match skin color with the parents or sibling if they are there because it will be different from the family complex.

[00:24:18]>> Family complex. Yes.

[00:24:19]>> Okay. Next. Go ahead.

[00:24:22]>> So coming to the systemic examination.

[00:24:25]>> Yes.

[00:24:26]Per abdomen inspection wise there was abdomen was soft emblus was center there was no visible scar sinuses there was no >> which scar did you look for >> um sirctomy scar could be present >> one more on the right side could be or multiple small scars of laparoscopy because they some of them might need >> because of gallstones yes sir Yes.

[00:24:57]>> Uh then on palpation there was no hepatali that was parable abdom was soft percussion findings were noble oscultation wise bobble sounds were heard and genitalis could not be examined.

[00:25:08]>> Okay.

[00:25:08]>> Then uh coming to the serious examination >> because he was in the ward and all that you could not expose him there.

[00:25:15]>> Yes sir.

[00:25:16]>> Yes sir.

[00:25:17]>> It's it's a part of examination remember you have to do in the exams.

[00:25:22]>> Yes sir.

[00:25:22]>> Yes. You can take anybody along with you and examine. Okay.

[00:25:27]>> Okay. There was no precordial bulge and clical. Okay. Now next any positive finding anywhere?

[00:25:33]>> No sir. No.

[00:25:35]>> Okay. Go ahead.

[00:25:37]>> So this one 18year-old male with transfusion dependent palacemia since infancy. He's on regular transfusions and collation therapy and has presented with bilateral lower limb pain.

[00:25:48]Examination revealed pal with no hypat.

[00:25:54]with no hippatenally >> with no hippat.

[00:26:00]>> Are you sure? So um sir only the smiley I could just palate the spleen tip >> other than that >> imagine if you have spleen tip how can you say no >> just be careful okay I believe you you done good examination I know you you must have done everything but remember before you say noi remember that generally they have apatismal and especially if he's coming from a hospital where the hemoglobin was maintained low. You said he was maintaining hemoglobin 8.5.

[00:26:43]So generally they will have hpatosplenomaggali.

[00:26:47]Before you say noatomaggali make sure that there is no okay right generally they have you will have someatic but there are many nowadays we find where no impatal because they are well maintained right from the beginning.

[00:27:07]Okay. Then there will won't be any.

[00:27:10]He has delayed puberty.

[00:27:16]You have not examined genitalia. How can you say delayed puberty?

[00:27:22]You have not. Okay. He's 18 years. So delayed puberty is a history.

[00:27:29]Why? How did you elicit history of delayed puberty? Puberty. And what is the definition of delayed puberty? Tell me.

[00:27:49]Don't invite problem for yourself. Okay.

[00:27:58]You lost connection. Basuda.

[00:28:12]Hello Goro.

[00:28:16]Yes sir. Where is gone?

[00:28:55]A cheek. Okay.

[00:29:54]Ah, yes. I can Vasuda you are muted. Yes.

[00:30:20]>> Am I audible now?

[00:30:21]>> Yes. Yes.

[00:30:22]>> Okay.

[00:30:23]>> So, we were discussing delayed puberty.

[00:30:26]>> Yes sir.

[00:30:27]>> What is the definition of delayed puberty?

[00:30:30]Somebody has written in the question answer. I was just seeing absence of secondary sexual character beyond 14 years in which >> no >> sorry is for precious 8 and for females and males.

[00:30:50]>> Yes sir.

[00:30:50]>> Okay. That is for preoscious. For delayed puberty you have 13 and 14.

[00:30:55]>> 14 for males and 13 for >> 13 for females. Yes sir.

[00:30:59]>> Okay. And uh somebody has written that as I told you SMR should be mentioned for 18 year old adolescent because they have delayed puberty they have hypogonadism it is very essential to for an for a child adolescent to mention the genitalia. But I know you told me that there was some thing that some problem that you could not examine him. We gave it but for exam purpose you must remember that you have to mention you can ask somebody to come and stand and ask take his permission or parents permission and take. Okay. Next with skeletal deformities. What are those skal deformities which you >> um sir uh there could be uh >> which you have seen in the you are giving summary of the case you should give me >> so there was no skeletal deformity I mean there was no hippatosphenomaggali delayed >> no hippatosenomagali delayed puberty or skeletal >> skeletal deformity >> so his puberty was on time >> yes sir How do you know?

[00:32:16]>> Um sir, there was facial hair. There was axillary hair that was present.

[00:32:21]>> What time did they appear?

[00:32:24]>> Uh so sorry I missed asking in the chronology of the >> You have to ask. How can you say?

[00:32:31]>> You cannot say. No, you can say that he is showing all signs of puberty. That is fine. But at what age did they appear?

[00:32:38]You did not ask even.

[00:32:39]>> Yes, sir.

[00:32:40]>> You cannot. You must mention >> if you are saying that there is no delay, you must mention.

[00:32:45]>> Okay. Yes sir.

[00:32:46]>> What about his facial appearance? Was there any sign >> of uh hemolytic faces? No.

[00:32:56]>> No sir. There were no hemolytic faces and the patient I believe you and fine perfect that you have seen. So probably he was a reasonably well-managed child that he had puberty also. He had facial hair. Generally children with talmia they don't have facial hair even if they are well managed and many of them will have delayed puberty also.

[00:33:18]>> Okay. Yes.

[00:33:19]>> And hypogonatism also many of them will have but luckily your patient did not have any of such any such features.

[00:33:28]>> Okay. Fine. with he has on investigation you found that he had reduced bone mineral density consistent with salmmia associated osteoporosis.

[00:33:41]What is the definition of osteoporosis?

[00:33:44]Why do you say it is osteoporosis?

[00:33:47]The osteoporosis is a lower bone mineral density which according to the TEXA scan we define it as when the score of mean score of the patient is less than minus 2.5 of the standard initials. Uh so uh in this case I would call it as talismia associated osteoporosis because there will be uh several factors uh contributing to it. First of all that uh because of long-standing transfusion iron killation therapies by >> okay we'll discuss that in this see since your patient has got some pain bony problem did you examine his sitting height and standing height >> um no sir >> right you know can have >> spine compression >> no they have short trunk Yes sir.

[00:34:45]>> So you must take in all cases sitting height and standing >> standing height.

[00:34:53]>> Okay. Remember this.

[00:34:55]>> Okay sir.

[00:34:55]>> Because their trunk is shorter.

[00:34:59]>> Yes sir.

[00:34:59]>> And their limbs appear longer.

[00:35:02]>> Okay.

[00:35:02]>> Than general. But there's a this is what I'm telling you is seen in cases who are not well managed who have severe osteoporosis who have compression cord compression >> that is okay. So osteoporosis you are saying is based on the diagnosis given by the dexa scan that you got.

[00:35:24]>> Okay. Can you go back to the examination slides?

[00:35:31]Did you have any other findings related to Okay, go back.

[00:35:41]Everything appears normal.

[00:35:46]No prominence of cheekbones, no malaclusion, facial hair present.

[00:35:52]Fine. Okay, we I believe. Fine. Next, we go ahead.

[00:35:59]So following this we have the investigations recently that has been done for the patient. Okay.

[00:36:04]>> So the pre-transmission hemoglobin was at 8.6 which >> what we think about the hemoglobin.

[00:36:09]Let's one by one now we'll talk what should be the normal hemoglobin maintained for >> 9 to 10 should be the uh average pre-transmission.

[00:36:19]>> Yeah. 9 to 10.5 9 to 10.5 around 10 you should maintain this pre-trans. He was maintaining low pre this is not recommended. Why do you say that? What happens if they maintain low hemoglobin intellism?

[00:36:34]>> Um sir, that could again uh contribute.

[00:36:37]>> No, you will see it will give them features of hypoxia low hypoxia low >> increased increased ariththropois.

[00:36:46]>> Yes sir. By giving high maintaining high pre-transfusion you are suppressing the bone marrow bone >> you are suppressing the extra medularary hepatitois but if you're maintaining low all these will then there is incre decreased production of by increased there is decreased production of hepsids also yes sir >> and that increases the intestinal absorption of iron sodium >> see we say that those who are maintaining good hemoglobin uh they need not have any restriction in diet.

[00:37:21]>> Yes.

[00:37:22]>> Calmics.

[00:37:23]>> Yes.

[00:37:25]>> If he is maintaining low hemoglobin he must have must take precaution.

[00:37:30]Take avoid iron rich food that is one. And what else can you do to suppress iron absorption in children? Vitamin C supplementation >> that helps in iron absorption or suppresses the iron absorption >> your your speech no your voice is not clear >> it actually helps to absorb the iron >> it helps to absorb why should you give vitamin C extra then >> we advise them to take tea with every meal >> yes sir tea >> suppresses Yes sir.

[00:38:09]>> Iron absorption. Okay. When a newly born a newly diagnosed case of comes to you >> there are few things you advise them.

[00:38:17]One is to get some tests done nuclear molecular test done. Fine.

[00:38:26]Then in that case when do you start them on? What is the advantage of doing molecular test in the singing?

[00:38:40]two three things. See by doing molecular >> you come to know the type of talismia whether it's a very severe variety of talismia or milder variety of you must have read in the books beta plus beta plus or beta zero >> beta >> type of mutations.

[00:38:55]>> Yes sir. Yes sir.

[00:38:57]>> So if it is beta 00 mutation then it is a severe variety.

[00:39:03]Most of our Indian we know today more than 5350 mutations of talismia. Out of them 64 are seen in India and out of them 95. Which is the commonest mutation of themia? Tell me.

[00:39:18]>> IVS 1 to5.

[00:39:20]>> Yes, that is a very common objective type question given in your exams also.

[00:39:27]IBS5.

[00:39:28]>> Yes sir.

[00:39:28]>> Okay. So we start them once you have confirmed the diagnosis.

[00:39:33]And where else it helps us? If a child comes to you with a CA after taking blood transfusion, how do you confirm the diagnosis? By doing >> molecular analysis. There should be a gap of at least 7 to 10 days from the last transfusion because the WBC's of that will interfere with >> this child's mutation analysis of the donor blood will of donor blood whatever filtration you do but still you have some amount of WBC going out with the uh blood so that will interfere. So books write that you wait for 2 3 months and after that repeat HLC and all that in practice we have seen nothing works. It is only basically either you one at supportive evidence is that you do the HLC of parents if both are minors then it means they are likely to be this is child is likely to be talismia major if both the parents are minor that is an indiration comes from this and then secondly next third point is that if the parents decide to go for a second child in the next pregnancy it is Essential for us to have the mutation analysis of >> mutation analysis.

[00:40:54]>> Yes. Okay. So you start them on sec transfusion once the hemoglobin drops to less than >> nine.

[00:41:01]>> No you not read it. It is less than seven on two occasions two weeks apart when you have excluded other causes of >> bleeding or loss of blood or any low hemoglobin. Fine sir.

[00:41:20]>> Okay. So you give them PRBC. They need only hemoglobin. They need only RBC. So we give them. So you remove by blood by this thing WBC liquid reduction. There are two three types of liquid reduction. One is pre storage, one is bedside. You must have seen those filters being used. bedside filtration or but preferable is pre- storage filtration in them before you store because it removes all the WBC so there is no release of pyrogens or cytoines and it removes the intracellular infection like >> HIV >> CMV CM not is HIV intracellular infection >> no sir no sir >> why are you saying >> but sir we do screen for wrong is not clear. Okay.

[00:42:12]>> Yes sir.

[00:42:13]>> Fine.

[00:42:15]And now when first time when a child of talismia comes to you, he might come to you with a TLC count of 30,000 28,000 35 it is not actual TLC. It is because of the >> nucleated RBC which your Yes. nucleated RBC which the cell counter may count as TLC. Okay. You always ask for a >> manual >> manual or peripheral from the peripheral smear that count. Okay. Fine. Your plat platelet count. He was spleenmized or no no spenome.

[00:42:55]>> No sir was not.

[00:42:56]>> Okay. No no no platelet count is okay.

[00:42:59]Next one. Okay. Go. You go ahead.

[00:43:03]Um so then the other routine test creatin, GFR, gladura, bun, furic acid, sodium, potassium were all within the normal range.

[00:43:13]>> Fine. The serum feritin as of 10th of May was 2,234 it >> uh sir ideally it should be maintained below 1,000 >> 1,000 right nowadays we maintain it around >> uh slightly on the higher range but >> yes >> 1,000 to >> no not on the higher range what are you saying you're saying opposite of that we maintain it on the lower side around 500 Sir, I mean to say that this patient is having it on the higher side.

[00:43:48]>> Yes. Yes.

[00:43:49]>> Let's finish now the treatment part of feritin which is more important from your examination point of view. Okay.

[00:43:56]You have given him blood which is pre- storage filter. Now what else you precautions you take to make sure the safety of blood you give them >> store blood >> okay within 15 days of >> properly tested within less than two weeks old blood >> yes sir >> okay then >> by two people >> okay that's very good okay next >> the temperature should be uh >> okay that I'll come to then see we have to do Proper screening of the blood for five >> yes sir >> diseases it's essential HIV hepatitis B hepatitis C malaria no and syphilis and malaria it is mandatory by law they nobody can issue blood in India without testing for these so to reduce the window period what do you know about the window period >> what is window period >> so between >> infection yes it is from the organism and when the uh maxed by the test to reduce this window period we are nowadays doing nucleic acid test. Yes sir. Amplification >> that is to amplification test to reduce the window period so that the chances of transmitted transmitted infections are less. Then we to reduce the transfusion reaction. You give them filtered blood.

[00:45:23]You give them properly matched blood to reduce alosensitization.

[00:45:28]We match for system B positive, A positive, O positive or O negative that and RH you are doing D. Then RH you have C and E also. So C small C capital C small E capital E and kel. So five other blood groups we should test we give them because they are receiving recurrent blood transfusion.

[00:45:51]>> Now temperature about the transfusion there is a rule of 30 and 4 hours.

[00:45:57]>> Yes.

[00:45:57]>> When the blood is taken from the blood taken out from the blood bank it should reach the center within 30 minutes. And we always transport the blood at an temperature of >> 4 to 8° centigrade.

[00:46:13]>> I see.

[00:46:13]>> Okay. In a >> not ice cool bag. Nowadays digitally controlled cool bags are available. Yes.

[00:46:23]>> And then we don't warm the blood before giving that.

[00:46:27]>> We don't rub. Earlier people used to put it in a blanket or towel and warm. No need to warm. You hang the blood straight away because there are slow drops are going initially you give them at 2 ml >> per kg per hour. It's very slowly for 15 minutes because most of the reaction if they have to occur they will occur in first 15 20 minutes or half an hour serious reactions after that you increase the speed and give them at a rate of 5 ml per kg per hour. So an average 15 to 20 ml per kg per mean per per sitting you give them blood which increase how much hemoglobin is raised in by one >> 5 ml of blood pel raises how much hemoglobin in a child 5 ml per kg increases by 1 g. So we are giving them 15 to 20 ml >> every 5 ml per kg sir one >> every 5 ml per kg gives 1 g raises by 1 g. So if you are giving 15 to 20 ml per kg you are increasing the hemoglobin by 3 to 4 g and it should be given at a speed of 5 ml per kg per hour. So the blood should finish within 3 to 4 hours. India is a tropical country warm country you know temperature is generally high so we should not leave blood outside for a longer time more than 4 hours because it will get hemolyized okay so each unit of blood gives how much huh come right you are mutated mutate mutate.

[00:48:32]>> Yes.

[00:48:33]>> Okay. So each mla each unit of blood gives them how much >> the uh three to four hemoglobin rises by 3 to 4 g per deciliter after each.

[00:48:46]>> No how much iron does it give?

[00:48:49]>> 200 mg >> 2 mg. So there is no natural mechanism of excreting the iron. So we have to take help of >> chilators and there are three chilators available nowadays. Can you name them >> sir? Uh deferoxamine defrai rocks and depiri prone >> yes deferoxamine defi defroi rocks and def I think you can read about all this in the books it's nicely given in most of the books yes sir okay now we go ahead with this >> um >> next your case and so three the the drug of choice is I'll just briefly tell you in just 3 minutes 4 minutes about the important points that you should remember about chilation. See nowadays the first drug of choice is >> deferox.

[00:49:44]>> Defroerox which is available as a sundra or defrigette and we give them about 20 to 40 in case of major and 14 to 20 case in case of tal intermedi or ndt we give them per day. It is a long acting drug. Halflife is more 12 to 16 hours. So once a day dose is required.

[00:50:05]It has got relatively fewer side effects. It effect lasts for 24 hours and that is advantage of big advantage of this drug and it is reasonably efficacious drug. Then we have another it is given orally. Then we have another oral drug that is called prone which is available as calur which is given in in the dose of 75 to 100 mg per kg per >> day >> invited do it has got a long medium >> uh four to 6 hours half life. So it is to be given in three doses. Only problem is it causes granularisitis.

[00:50:46]Yes. And joint pain in about 10 to 20% but in one person it may cause a grandocitis. So monitoring CBC monitoring with every blood transfusion and with every episode of fever is a must okay and they must collect the report also and check that is the only thing if you take precaution then it's a very good drug. Another ad an advantage of this drug is that it is a small molecule. So it removes better iron from the heart. More iron killation from the heart than the two other drugs.

[00:51:23]>> Okay. It's a better chillator of iron from the >> Yes sir.

[00:51:28]>> That's a very big advantage of this. So whenever a child get comes to us with cardiac involvement we give them deer prone always >> if he can tolerate >> deaf prone and then desper which is injectable form it's a big molecule not absorbed orally has a very short halfife you can't give that as intramuscular injection or oral injection it has to be given in the form of subcutaneous injection mostly but in severe cases we can give a continuous drip of IV infusion it's given in the are 20 to 50 mg per kg per day. Here is one point vitamin C increases the excretion of iron by descol. But the catch here is that you should not give vitamin C if there is cardiac involved.

[00:52:16]Okay, it is vitamin C is given in the dose of 2 to 3 migram per kg per at the time of transfusion not otherwise. If it's not taking on Saturday, Sunday this desper, we don't give him vitamin on that day. But vitamin D definitely helps in iron excretion. Fine. So this drug so why I'm mentioning about that this drug got long half life, short halfife. There see iron is stored in our body in a bound form with transferin.

[00:52:48]Okay. When storage of iron bound in bound form with transferin is exceeded, iron levels are more then what happens?

[00:53:00]Then the capacity of binding this iron is difficult is in exceeded.

[00:53:25]Vasuda your connection is not there.

[00:53:35]Gora Audible.

[00:54:20]>> So I was telling about the binding capacity of iron is stored in our body in bound form with transferin. When this exceed iron levels are more binding capacity is not enough then free iron is really released in the blood and that is called non-transfer inbound iron.

[00:54:43]>> Okay that's a very dangerous form of iron that is the most damaging. So to have less side effect of iron access in the body, we must have a chilator present 24 hours in the body. So that this antibbi which is continuously produced at a slow rate. See if a chilator is present for 8 hours in the body. Then 8 hours it will kill 8 iron but 16 hours antibi anti-bi non-transferin bound free iron will be produced that will damage the different organs of the body. So a chilator has to be present throughout.

[00:55:22]>> So that's why I say that when you give deserol infusion then you it is only for 10 to 12 hours. So 10 to 12 hours it is not given then antibbi may cause problem. So best drug that way is defrocidox which is which has got long half life and is present for 24 hours.

[00:55:45]Okay clear.

[00:55:51]Hello.

[00:56:01]Yeah, it's good though.

[00:56:47]So the so we have briefly discussed transfusion and collision now we go to the complication part which your patient had. Come on, tell me about the sir.

[00:56:58]>> Go to the next slide. If it is not visible, >> no, it's not visible at Yes, it is visible. So, we go ahead. Now, leave this genotype and all the this is a very complicated slide. There's no need to go for this. Okay. Next.

[00:57:14]>> Yes sir. Officer. So uh sir uh like a lot of you can see >> gor we'll take another 15 minutes because there was a lot of disturbance in between.

[00:57:31]>> So next 15 20 minutes we'll discuss the bone disease in talismia. Now come.

[00:57:38]>> Yes sir. So there will be osteoporosis fractures spinal deformities compressions.

[00:57:45]Yes >> sir. I'm very sorry about it's a very unim next time make sure that you have good connection. Okay.

[00:57:52]>> Yes sir.

[00:57:52]>> Fine >> sir. Sir osteoporosis has this chart is from WH normal.

[00:57:59]>> This is for Wait a minute. This is for adults.

[00:58:03]>> Yes sir.

[00:58:05]>> Minus 2.5.

[00:58:07]No this is you have written bone osteopenia low. This is minus1 to minus 2.5 or sir 2.5 standard deviation below this thing. Okay. This here you are taking >> there are two scores that you take in know.

[00:58:24]>> Uh sir t scores and zed scores.

[00:58:27]>> What is what do you mean by tcore?

[00:58:29]>> Sir in tcore we compare the bone mineral density with healthy young adults. And this is done for post-menopausal women or who are more than 50 years of age. So if a t score is more than minus are in our body. Maximum bone density or deposition takes place in our bone when we are adolescents and young adults.

[00:58:53]>> In children, it is low and after when you reach the uh middle age or later age there is gradual decrease in bonus. That's why you compare with a young adult >> score.

[00:59:07]>> Okay. Then you are given rightly this this is actually more than it is less than minus h more than minus1 minus1 to 2.5 okay you have correctly this thing and zed score is with age and sex match >> sex match controls >> yes right so in children we don't say osteoporosis as such is the definition but >> on the basis of dexa scan And but what is the def the definition of osteoporosis in children >> sir? uh low bone mineral density >> okay >> below minus 2.5 standard deviation of uh >> for children they take minus2 zed score for zed score they take minus2 and okay sir >> it is with the fractures with minimal trauma >> okay minimal trauma fragility fractures so let's complete the definition of pediatric osteoporosis is the present of either it is one or two history of one or two compression vertebral compression >> fractures.

[01:00:27]>> Yes. For one or two vertebral compressions or long bone fractures.

[01:00:34]Two by the age of 10 years and three by the age of 18 years.

[01:00:40]That is a classical definition given by uh this for pediatric this thing. But by this less Zed score you get an idea that child's bone mineral density is less and he's very prone to osteoporosis fractures.

[01:01:02]>> Osteoporosis.

[01:01:03]>> What is fragility fracture?

[01:01:06]How do you consider this as minor trauma he had or major trauma? How will you come?

[01:01:16]>> Fragility fracture is basically fracture with a trivial trauma. But you consider standard definition of that is that when you have >> fracture from a fall which is less than your height like for 5 and a half ft person if he falls below that four feet and he gets a fracture then it means a trivial >> fragility fracture for him.

[01:01:46]>> Okay. What is the difference between osteomalacia and osteoporosis?

[01:01:53]>> The osteoporosis is slow bone mineral density and osteomalia is uh both mineral and the I mean the collage elastic part both of them are lower >> with osteoporosis. See the bones become see there is no loss of volume.

[01:02:13]>> Yes sir.

[01:02:14]>> But bone become very porous.

[01:02:17]Yes sir.

[01:02:18]>> And brittle there is thickening thinning of the cortics.

[01:02:23]With osteomacia what happens?

[01:02:26]>> There is less deposition of calcium. It is because of vitamin D deficiency you know.

[01:02:31]>> So >> in grown-ups where growth is complete.

[01:02:36]So it is less deposition of that. It is >> less hard.

[01:02:42]While on the other side the osteoporosis is very hard and brittle bone.

[01:02:46]>> Brittle bone >> that's why it breaks very easily.

[01:02:49]>> Okay.

[01:02:50]>> Okay. Next come.

[01:02:53]>> So uh >> how do you diagnose >> sir?

[01:02:58]>> How do you diagnose?

[01:03:00]See it's a very common problem. We say that we say that almost there are different papers saying different but you can say more than 50% of the are either osteoporotic or osteopenic >> fine >> what are the so osteoporosis can be congenital or >> not I'm not talking about themia at present just osteoporosis you have given definition so we divide it in Secondary the cause of asthalmia as a cause of osteoporosis is secondary.

[01:03:38]>> Yes sir.

[01:03:39]>> But osteoporosis can be primary also.

[01:03:42]>> Yes sir.

[01:03:54]What are the other features of osteiogenesis imperfectctor?

[01:03:58]>> Blue scler is there.

[01:03:59]>> Yes. Very important. Rest all are there.

[01:04:02]Easy bruising and yes all that uh means u fragile skin. Then you have joint laxity. You have you seen that >> classical book given in the increased joint flexibility that is osten. Then there is a condition called idiopathic juvenile osteoporos. That's also congenital but we'll be talking causes of uh osteoporosis occurring inthalosmia. What are the causes? What are the factors causing it?

[01:04:34]>> One is ineffective ariththroposis bone marrow expansion then severe anemia increasing osteoporosis. What are the other causes >> sir? Iron overload the iron toxicity in itself.

[01:04:46]>> How does the iron overload cause this thing?

[01:04:50]Um sir iron overload increases osteoplastic activity and reduces the osteoplastic activity.

[01:04:59]>> Plastic activity.

[01:05:00]>> Yes. It damages from both sides or >> um sir low levels of vitamin D.

[01:05:08]>> Yes. Vitamin D also low level cause that s then what are the other factors?

[01:05:15]>> Um say hypogonadism.

[01:05:18]Yes, very important.

[01:05:20]>> Yes.

[01:05:21]>> Delayed puberty and hypogonatism, hypothyroidism, hypoparathyroidism, then you have diabetes, >> then growth hormone deficiency.

[01:05:33]All these factors contribute to this or >> um circulation toxicity.

[01:05:44]Yes. Especially >> defer jet deferrosamine desper >> it causes something rickets like picture one >> and then it can cause >> compression of the vertebrae what is that called >> platispanis >> platispondulus >> platispondulus >> okay and then it causes see this is one condition where a person can lose height >> there's no other condition on this earth person can lose height because the there is flattening of the vertebrae. They actually lose height when they grow >> and they are on chronic uh this thing.

[01:06:25]This is the side effect of desperate.

[01:06:29]Then what is the bony side effect of calf?

[01:06:34]>> Um >> hypoplasia of the lower end of >> that has been seen >> but otherwise there are no other side effects and similar is reasonably safe.

[01:06:51]>> Droxamine is reasonably safe. Okay.

[01:06:56]Okay. Then next we go ahead. Okay. or bolo.

[01:07:00]>> Um sir then uh this uh there are a few general measures for management of osteoporosis in Yes sir. Low levels of vitamin D.

[01:07:20]>> They must take these talism must take diet good in calcium. Then zinc deficiency.

[01:07:28]>> Okay. All these contribute to the >> so there are so many then activity.

[01:07:35]>> Yes. See because some children because of some problem may get bedridden >> then it also causes the then smoking in adolescence in uh these smoking and drinking also may be there.

[01:07:50]So we have to tell them to stop then.

[01:07:53]>> Yes sir.

[01:07:53]>> Regular exercise, walking these are all factors if they can contribute to the development of osteoporosis but if you avoid them then they become helpful in preventing the osteoporosis. Okay. Yes sir.

[01:08:08]>> How do you evaluate for osteoporosis?

[01:08:10]Okay.

[01:08:12]>> You do the calcium level, >> blood test, vitamin D, calcium.

[01:08:16]>> Yes.

[01:08:18]or >> uh dexa scan for the diagnosis.

[01:08:23]>> Yes, that is the one thing that is one scan which can be done which is generally done can be what this is the only scan which is generally done all over because it can it is not very expensive. It can be reproduced and uh it's easily available nowadays in most other places. What do you do in that scan?

[01:08:46]Um sir it is a dual energy X-ray absorptary as DEXA stands for.

[01:08:52]>> Yes sir. So that there are four.

[01:08:54]>> At what place do you find this?

[01:08:57]>> You do it at spine levelip to four hip femoral neck generally.

[01:09:05]>> Yes sir.

[01:09:06]>> Hip no spine and femoral neck are important.

[01:09:11]>> Yes sir.

[01:09:11]>> Lumbar spine is L1 to L4.

[01:09:13]>> L1 to L4. Yes sir. Not L5 cala.

[01:09:17]>> Yes sir.

[01:09:17]>> Why do they avoid L5?

[01:09:19]>> So because the iliac bone swab will >> Yes. Iliac bones will also when you take the section they come and interfere with that.

[01:09:26]>> Okay. That's very good.

[01:09:28]>> And then you do for whole spine whole body also that should be considered.

[01:09:33]Okay. Then you explained very rightly T and Z score. Okay. Next we go ahead.

[01:09:39]Sorry. Next.

[01:09:42]or >> um sir we will uh analyze the iron overload in the body by doing the feritin or the mi t2 star.

[01:09:54]>> Yes. So you will try to reduce the iron load >> iron load.

[01:09:58]>> You will keep good hemoglobin >> in the desired range. So that these two factor >> ask him to do exercise take good diet >> take vitamin D. Nowadays we advise that all talismics to take reasonably good amount of vitamin >> vitamin D >> E >> every day 1,000 international units and calcium also we give them they should take calcium high calcium diet. I advise I hope others are also advising like that two glasses of milk for a talismic child every day they should take okay that will suppress iron absorption also we know milk suppresses iron absorption secondly calcium good source of calcium they must they should take calcium tablets also when they grow little older fine okay so you are done and there are some other tests which can be done but we generally don't do there are some markers of this uh osteoplastic activity some markers of osteoplastic activity they can be done but normally they are not available and they are only for the research purpose.

[01:11:11]Similarly you have PQCT that is peripheral quantitative computed tomography. Yes.

[01:11:25]>> Okay.

[01:11:26]>> Okay. That is also done for research purp but that is also quantification of bone density only actually it is okay.

[01:11:33]>> But it is not done routinely. We do all do same dexa scan as you have mentioned.

[01:11:40]>> Okay.

[01:11:40]>> Yes sir. So what else will you do?

[01:11:44]You'll get the calcium done, corrected, vitamin D corrected. Okay. If there is hypoparathyroidism, then you give high dose of vitamin D or you can give 125 hydro >> TDH supplement.

[01:11:57]>> Yes.

[01:11:58]>> Okay. Right. Or then >> how do you evaluate? uh so for treatments I will take general measures like to do adequate transfusion >> okay that's fine we have discussed that now we come to pharmacological >> how do you treat low bone mineral density in a child withmia you don't have any medicine to treat a child >> yes >> all these medicines what we we I know you will talk about they are all all recommended for grown-ups >> adults yes sir Yes, but off label we have used these medicines in children also cautiously monitoring them carefully. So what is the first line treatment of this low mineral density is >> by reducing the >> yes they reduce the osteo >> resorption class >> yes osteoclastic activity.

[01:12:58]>> Yes sir. So what are the different types of uh bisphosphonates available with us?

[01:13:05]>> So we have alendronate faronate is oral >> and it is available in the do what how do you give it?

[01:13:14]>> Uh sir I think once >> 70 migrams or also per week or 10 migram per day. The only problem of giving this is it is >> we have found that in the it is not that effective. But the problem is that once you take this with lot of water you child should not be the person should not be allowed to lie down.

[01:13:38]>> Yes.

[01:13:38]>> Yeah. They have to be erect.

[01:13:41]>> Now other bisphosonates you tell me >> sidonate >> which is given as 3 to six was one used earlier. Zoladronate.

[01:13:54]>> Yes sir.

[01:13:58]>> How does it again the same prevents B >> but it enters the bone actually matrix.

[01:14:05]>> Yes.

[01:14:06]>> So it reduces the osteoplastic activity but they get deposited there. It has got a very long life.

[01:14:12]>> Yes sir. So that is why it is given as 3 to six monthly injections.

[01:14:16]>> Three to six months or sometime people give it yearly also. And uh what is the dose of that >> sir? 0.1 to.3 mg per kg.

[01:14:27]>> Yeah somewhere you will find 0.25 25 z25 05 01 all these various doses are given but generally for adults 4 migram good >> weight adult 4 mg is enough to be given every 3 to 6 months and but not for more than 2 years at a time.

[01:14:54]>> Why do you avoid giving for more than two years? So because of other adverse effects like renal toxicity, osteone necrosis or you make sure any child who is taking bisphosphinate you make sure that his calcium is normal because of osteoplastic. In fact for all other >> other uh this thing bone marrow improving agents also you make sure the calcium is normal, vitamin D they are taking adequate and their renal functions are normal.

[01:15:26]>> No. Okay. So the main side effect is that in long run it may cause >> osteoncosis of the jaw >> but we have not seen in children. People have used osteo zooladonate in children or these uh osteop bisphosphinates in children but they have not found it in children not commonly. So we can give it also use in fact it is the first line treatment for low mineral density or osteoporosis.

[01:15:59]Okay.

[01:16:01]Now next which other drug can you use >> sir? Uh monocchloral antibodies like denosumab.

[01:16:09]>> Denisumab. Yes. Good. And it is recently was available but remember this is not I think it is not FDA approved for these but off label people have been using it and it is a reasonably safe drug. What is the problem with this drug? What is the dose? It is given as a 60 mgram subcutaneous injection. What is the problem with this subaneous solution?

[01:16:36]Huh?

[01:16:37]>> Cost >> cost cost is important. And then see it is a it effect does not remain longer in the body. The moment you stop giving >> within few days it its effect will go.

[01:16:52]>> So you there is a rebound osteoporosis after.

[01:16:56]>> So what you do you continue with bisphosphinates once you have discontinued you may continue with low dose of bisphosphinates after that.

[01:17:06]Okay, that was about the denosum. Then other drugs you know of have you read >> any other drug? Tell me.

[01:17:22]>> Uh >> they are called osteoic drug. They increase the osteoplastic activity. What are those drugs?

[01:17:30]Um >> yes claristin antibbody analogs can be used sir >> yes teraratide >> teraratide can be used >> tip paratite though it is again not FDA approved for children yes sir >> autoopix people like it more because it helps in healing of the fractures.

[01:18:01]>> Yes sir.

[01:18:02]>> It's more oriented towards fracture.

[01:18:04]That's why probably orthopedics people like it. So it is given as 20 microgram injection every day. It's quite expensive and traumatic because the injection is given every day.

[01:18:16]>> What else? What is the other problem with this?

[01:18:22]>> Um >> I think this is the drug.

[01:18:26]No osteo osteocaroma was once sometime associated with it that's why they don't like this drug but that's not a common side effect okay >> yes yes >> so now we have discussed about the three the >> drug of choices drug of choices Avoid smoking, avoid drinking, regular exercise, regular that is the only message that you should give these sales. Don't rest unnecessarily.

[01:19:15]That is the thing that we want them.

[01:19:17]Take plenty of calcium, take plenty of vitamin D and they must take vitamin D supplements like we give to all our children in the ward and then what else?

[01:19:28]>> So that helps them recovering. But this process is not that fast that you give them o these bisphosinates and within two weeks or four weeks their osteoporosis goes away. It takes a very long time. That's why we have to use these medicines for long time. Okay.

[01:19:52]And whenever you are giving these medicines, you must monitor them for calcium excretion in the urine also.

[01:20:00]>> What else do you want to anybody wants to ask anything about this thing osteoporosis? or all this anything about talismia anybody can write in the question answer question box no there are no new questions do you have anything about the newer let's discuss because you may get a short note on newer therapies inmia I told you to prepare that right that's good good there are two three drugs one is the gene and >> see on paper gene therapy appears very simple there is a defective gene Use some agent >> take your corrected gene to that place and correct it and come out.

[01:20:53]>> It's not that easy. They are using those vectors as lentivirus or retrovirus.

[01:20:59]>> They are inactivated viruses. They go inside the body, go to the bone marrow, replace that defective gene. On paper it appears very simple but >> practically it is a very difficult thing. Zantiglow is of I think Bluebird company. Yes, Zantiglow a bluegird company which was based in Germany earlier. They have shifted to America.

[01:21:24]Now it is approved officially by FDA for treatment of many some children have got treated also with that also. But one very big Johhitive factor.

[01:21:46]>> What is the approximate cost? You will be surprised. It is $2.5 million about 25 crores this treatment costs. So nobody on the mean at least from our part of the world can afford it. So we they are trying to invent more mean rather I'll say easier way to send this corrected gene inside then gene editing defective gene you stimulate that defective gene >> ACL 11A you have mentioned there you this actually suppresses the fetal hemoglobin production.

[01:22:29]>> Yes sir. So when you dro suppress it the gene expression fetal hemoglobin will get increased then there is less mismatching of the alpha and beta you know basically the defect inmia is so it is black editing it's a newer concept but hopefully it will come up next >> yes sir sir uh >> we have list cell which is basically it will bind to the TGF vita super family liance and it will block this MAD 23 signaling >> in simple words yes RBC maturing agent >> it helps in maturation of the RBC >> but the problem is how it is given 1 mig per kg sub it's available in India as zintlo it's available as >> oh >> I'm for I'm forgetting the name in India it is available for a long time but we have not used it for a long time because of its cost and not a very good effect.

[01:23:48]See it generally does not prevent blood transfusion. It doesn't make you transfusion free. It increases the transfusion interval.

[01:24:00]You have written yourself in very big letters 33% reduction of >> but at what cost? What is the cost of 25 mg while of this luspatter?

[01:24:22]>> It is 33,000.

[01:24:25]>> Okay.

[01:24:30]Let me check the how can I forget Indian name Rebloil. Oh >> yes sir.

[01:25:04]>> Rebloil it is available as Reblo. So it was incidentally detected. See they were for postmeasis post menopausal ladies. They were testing a sister product of this lobarter sept that was called sotarter sept. And they were trying that they found that their hemoglobin increased.

[01:25:26]Nowadays it is not used for osteoporosis. They were in fact trying this drug for osteoporosis.

[01:25:33]So tartarcept and luspart. Then both these drugs were tried in talismia and other condition with low hemoglobin to increase the hemoglobin level and luspart just went ahead in the race. So, so trials with sotarter sept were stopped.

[01:25:52]So, lot loart sept came to the market.

[01:25:55]But the only problem is injection is given every 3 weeks and for a 50 kg person the injection would cost 60,000 70,000. Though company has now reduced it to almost half the price but it is still very okay.

[01:26:11]Next >> then there is another drug which has >> Yeah, this is a recent edition. It was approved. When was it approved? Tell me.

[01:26:21]>> Uh sir, I think last >> December last year December 25 is the latest addition to the treatment of talismia metapat.

[01:26:31]>> It is the only oral drug rest allpart sept and all those are injectables. This is the only drug which is known to in improve the hemoglobin and basically >> yesan ites pyroate kindness. Yes.

[01:26:51]>> Yeah. It is activator of the pyroate kynise. So it was it is also used for pyroate kynise deficiency also. But again it's a very expensive drug so far.

[01:27:04]Let's hope it price reduces and then we'll see.

[01:27:08]Okay. So the key things are you have written clearly. Very nice. And I think we can stop here or if anybody has any question you can write in the chat box.

[01:27:19]Let me see the chat box or if you can you want to ask anything.

[01:27:30]Vitamin D is given only on transfusion day or monthly supplement given. Vitamin D should be given ideally daily as 1,000 international unit to all children with talismia. But since that preparation is not easily available so you can give 160,000 sache every two months that will come to 1,000 unit every day.

[01:27:57]>> Every day.

[01:27:58]>> Yes.

[01:28:01]Can't anything else? Anybody wants to ask? You want to ask anything was the >> No sir.

[01:28:08]>> You want and add anything to your good slides you have made? Good presentation but you have to just go through the treatment more practical way of treatment.

[01:28:19]>> Yes sir.

[01:28:20]>> Okay. Anyway good very good preparation very good slide. You have covered that recent advances very well. I think it's that is the thing you should know. You may get a short note on recent advances in talismia. Just three four things you have to write in that and the treatment transfusion therapy and elation therapy you should know.

[01:28:45]Okay. And complications like blood transfusion reactions and all that you should know filtration and n testing. I have told you these uh reactions you can read from the book. It's given nicely in if you download that book from Talismia International Federation >> site there's a book available >> I think last year it came 2025 >> latest that TDT and 2023 is >> NTDT >> yes sir.

[01:29:20]>> Okay.

[01:29:22]Good. Very good.

[01:29:24]>> Thank you sir.

[01:29:25]>> Well thank you sir.

[01:29:26]>> Okay.

[01:29:28]Right. Bye-bye. Good night.