Ataxia telangiectasia
Rare hereditary disease characterized by extreme sensitivity to ionizing radiation or radiomimetic drugs because of a defect in DNA repair. AT heterozygosity is estimated to occur in more than 2% of the U.S. population; heterozygotes exhibit increased radiation sensitivity and are at increased risk for several types of cancer. The normal version of the gene that is defective in AT appears to activate the p53-dependent response to DNA damage.
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Top doctors who continously share their opinions on Ataxia telangiectasiaJagadguru Jayadeva Murugarajendra Medical College
Retired Professor and Head Pediatrics
Jagadguru Jayadeva Murugarajendra Medical College
md,frcpch(uk),ficpcc(London),masp(usa),phd, fams ,fimsa.
BMC HOSPITALS
MEDICAL OFFICER I/C.
College of General Practice
c gp.
HPS
ICSE
Ex.central Hospital Dhanbad.1985 ..1993..ex.pathologist .drs Tribedy and Roy Dianostic Lab.kolkata.ex Pathologist.inst of Child Health Kolkata.
Senior Pathologist
School of Tropical Medicine. Kolkata
d c p
Anand Hospital
Neuro Intensive Care
Zhengzhou University
MBBS
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Diagnosis please.
Dr. Syam Sundar Patro1 Like8 Answers - Login to View the image
Findings and diagnosis please.
Dr. Syam Sundar Patro0 Like6 Answers - Login to View the image
Mch.7yrs Nasal congestion Mouth breathing Noisy breathing Sleep apnea 2 months
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Diagnosis please.
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30 weeks size mass per abdomen *Chief Complaints* 45 year old Para 2 with previous history of myomectomy presented with mass per abdomen and abdominal doscomfort. *History* 45 year female presented with mass per abdomen. She had two normal deliveries. History of myomectomy done for fibroid uterus 8 years back. Papers of surgery were not available. H/o heaviness in lower abdomen and discomfort. No history of heavy menstrual bleeding. *Vitals* Pulse 88/ min. BP 114/80 mmHg. *Physical Examination* Per abdomen . Mass palpable per abdomen around 30 weeks size of gravid uterus irregular , restricted mobility. Well defined margins, firm in consistency, non tender. No guarding/ rigidity/ free fluid. Per speculum examination revealed cervix and vagina normal. Per vaginal examination. Same mass felt per abdomen and multiple fibroids palpable in uterus on posterior wall and lateral walls *Investigations* Ultraound revealed multiple fibroids largest posterior wall fibroid 20*18 cm. *Diagnosis* Fibroid Uterus *Management* Patient underwent adhesiolysis followed by TAH + BSO. OT findings: Uterus irregularly enlarged to 30 weeks with multiple fibroids largest left postero lateral fibroid 20*18 cm. Dense adhesions noted between posterior wall of uterus and sigmoid and rectum. Also adhesions between left adnexa and left lateral pelvic wall. All adhesions were dissected using sharp dissection and Hysterectomy done.
Dr. Viraj R. Naik1 Like3 Answers
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