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Rakesh Kumar, Binay Ranjan, Manjul Vijay Department of Pediatrics, Katihar medical college, Katihar...

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Question Category : Genetic Disorders
Dear sir, A 1 year old infant with O.I, family history is +ve for another male how can you help him? Check Out the Answer
Question Category : Genetic Disorders
I was managing a child with IEM in peads ICU.he was having persistent metabolic acidosis and i had to start put him on NaHCO3 infusion 4.2%.then slowly increased the infusion form 1cc/hr to 3 cc/hr.but the problem started when the NA serum level increased to 180mEqq/l.so i had no choice to reduce the infusion but the met acidosis rebound adn the bp crashed.so i started back the met bicarb and did not bother about the high sodium.what else could have been done.can i start frusemide infusion for this patient to reduce sodium. Check Out the Answer
Question Category : Genetic Disorders
I was wondering, if a condition is found in a child and it turns out to be genetic are both parents tested to see who it comes from? From genetic testing can you find out if the father is the true biological father if the condition can only be passed on by one of the parents and neither parent carries that particular gene? If from genetic testing you find out that the father is not the true biological father does the doctor/health team have a legal obligation to inform the father in question? I would be happy if you could answer these questions as i am unsure as to how genetic testing works and to how much information you can find out from undertaking a genetic test. Check Out the Answer
Question Category : Genetic Disorders
Any effective therapy for leukodystrophy? Except for Lorenzo's oil (in select cases). How to control seizures in them? Most importantly how to approach, manage and prognosticate such kids? This site does not have single search result on it? Check Out the Answer
Question Category : Genetic Disorders
A 3 years old female child born by section at term,because of non progress due to feto-pelvic disproportion.She had an apgar score of 8-9. She was kept in incubator for three days because of LBW 1900 gms. Discharged in good gen condition on breast milk, the baby showed moderate floppiness and delay of developmental psychomotor milestones. Thorough investigations including karyo typing, aminoacid screening,metabolic diseases did not show any abnormality, CBC,WBCs,BS,liver and kidney tests were all within normal values. I saw the child for the first time last week, clinical examination 10.5 kgs girl,with poor sluggish spontaneous movement, needs help to initiate standing and walking, proceeding with assistance, blood presure 100/65 mmHg ,Ht 93 cm and HC 48 cm. her attitude seemed to be like autism children with poor interest with surrounding heart and lungs were within normal,abdomen soft non tender,no organomegaly the only abnormal finding was the shape of both wrists they looked like having lower radis fracture and a very small extra phalanx with with clear articular movement at that level to receive a diagnostic hint or suggestion I will be very thankful and appreciate. Check Out the Answer
Question Category : Genetic Disorders
Can you give some information on medical line of management in treatment of osteogenesis imperfecta?? Role of biphosphonates?? Check Out the Answer
Question Category : Genetic Disorders
I have a 5 year old child with progressive muscle weakness beginning with frequent falls initially and now not able to walk. This has happened over 2-3 years. No history of convulsions. Mentally he is normal. Non consanguinous marriage. Fits in sma but the genetic study i.e SMN gene and the NAIP gene are normal. can we have sma with these genes normal. sachin d. Check Out the Answer

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