Biotinidase deficiency
A genetic disorder caused by mutations in the BTD gene. It is characterized by reduced or absent activity of the enzyme biotinidase which is responsible for the recycling of the vitamin biotin. Signs and symptoms appear in childhood and include seizures, hypotonia and developmental delays. If left untreated, it leads to vision and hearing loss, infections, alopecia and ataxia.
LLRM
Senior Resident
Parmarth Homeopathic Ausdhalay
M/O Incherge
Homeopathy University Jaipur
DHMS
Bangalore Medical College and Research Institute
M B B S
The Health City Hospital
Intensivist
Maharashtra University of Health Sciences Nashik
bhms
Pgimer
M.D (Pediatrics)
Medvarsity Online Limited
Family Medicine
PGIMS New OPD
Optometrists
St Jude Children's Hospital
Research Fellow
Johns Hopkins Hospital
Post doctoral fellow - Pediatric Neuroradiology
Moulana Hospital
Consultant Dermatologist & Cosmetologist
Svmc, Tirupati
Md pediatrics
Shree Krishna Hospital
Resident
Pramukhswami Medical College
MD, INTERNAL MEDICINE
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# CCL6 Young female 18yrs. C/O Muscle spasm, Muscle weakness and wasting. Myalgia and arthralgia Aching bone pain at lumbar,pelvis and hips Inv- Bone mineral density 76% Hypocalcaemia.
Dr. Syam Sundar Patro1 Like9 Answers - Login to View the image
Paratesticular tumours are masses of slow & indolent growth & in most cases of benign nature, in these cases the treatment of choice is simple extirpation of the lesion. A paratesticular mass may derive from a number of structures that surround the testis within the scrotum; most commonly, they derive from the spermatic cord. Dr. Vivek Jha is sharing a clinical case of "Large Paratesticular Growth" managed with surgical expertise by him. Share your views on the case & learn new things.
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Mch.9yrs. Unable for pronation and supination and rotation of left forearm.
Dr. Syam Sundar Patro0 Like6 Answers Astra Zeneca vaccine against Covid-19 has the potential to cause Thrombosis with Thrombocytopenia Syndrome (TTS), a rare side effect associated with blood clotting. TTS causes blood clots & leads to low blood platelet count. Experts say, the adverse effects related to vaccine usually occur within a few weeks (1-6 weeks) after the administration. Hence, people in India who took the vaccine 2 years ago need not worry. What do you think about it?
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This is a case of my brother - A 47-year-old male complains of pain in his right wrist while lifting anything with hand or twisting the wrist even a little bit. Pain occurs occasionally on rest. He also has pain in his both shoulders. Radiographic images of wrist are attached. Can you diagnose the cause? Let me know if you have any query.
Dr. Neelam Chauhan0 Like3 Answers