Visual diagnosis casebook. Epignathus.
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Diseases in Twins↗
Biomedical subjects
S Sahdev
Publications and source records attributed to S Sahdev.
Clinical consequences of a human non-fluorescent Y chromosome (Ynf).
A new case of ambiguous genitalia and immature tissue in the left gonad is presented. Cytogenetic findings with various techniques demonstrated that the distal two-thirds of the long arm of the Y chromosome is deleted. Q-banding showed a non-fluorescent Y; three positive bands were however noted when the DA/DAPI technique was applied. After a review of the literature, it was concluded that the non-fluorescent Y chromosome (Ynf) when inherited from generation to generation is a heteromorphism in normal males. However, in our case, where the proband's Y is lacking the fluorescent segment, a simple deletion does not appear to adequately explain the DA/DAPI positive bands. Possibly, a deletion followed by a structural rearrangement of the non-fluorescent segment had occurred de novo. The highly Y-specific DNA sequences present in the fluorescent segment are absent in these patients. The abnormal development in these cases is due to the presence of the 45,X cell line. The gene responsible for spermatogenesis has been localized to the non-fluorescent region in the long arm of the Y chromosome. Furthermore, it is concluded that two types of non-fluorescent Y chromosomes can be found in the population; one is a normal inherent heteromorphic variant, while the other appears to be an abnormality, especially in cases with azoospermia. Such distinctions should clearly be established prior to genetic counseling for patients with so called Ynf or del (Yd).
Chromosome Banding↗
Serial trypsin inhibitory capacity and ceruloplasmin levels in prematures at risk for bronchopulmonary dysplasia.
Oxidant injury and release of proteolytic enzymes in prematures with respiratory distress syndrome (RDS), who are treated with ventilators and oxygen, have been postulated as possible causes of bronchopulmonary dysplasia (BPD). The premature may be at particular risk due to low levels of antiproteases, such as alpha-1-proteinase inhibitor (alpha 1PI), and antioxidants, such as ceruloplasmin (CER). Both alpha 1PI and CER deficiencies have been correlated with the severity of RDS. We studied serial alpha 1PI activity as measured by trypsin inhibitory capacity (TIC) and CER in the serum 27 prematures who required ventilator therapy for RDS. Serum TIC values for day 1 were significantly lower (0.34 vs. 0.92 mg inhibited/ml of sample) in the 13 patients who developed BPD compared to the 14 who did not. No significant differences were seen on succeeding days. No significant differences in CER were seen, although both groups had levels 33-50% of adult normals (11.3 vs 9.3 mg/dl). Other significant variables included birthweight (p less than 0.005), severity of RDS (p less than 0.03), and gestational age (p less than 0.03). One way analysis of variances demonstrated day 1 TIC to be the most significant variable (p less than 0.0001), followed by weight (p less than 0.007), severity RDS (p less than 0.04), and gestational age (p less than 0.03). CER levels were not a significant variable. A formula utilizing unstandardized canonical discriminant function including day 1 TIC, birthweight, severity of RDS, and gestational age was 100% sensitive and 85% specific in the prediction of BPD for the original study group. In an additional 25 consecutive admissions with severe RDS of whom 18 survived, the formula was 100% sensitive (6/6) and 75% specific (9/12).(ABSTRACT TRUNCATED AT 250 WORDS)
Birth Weight↗
Rail roading technique for intubation of the canaliculi with sutupak in cases of common canalicular duct obstruction.
A variety of methods and materials have been used for the treatment of the problems relating to the canalicular system. An insight into the rail roading technique for intubation of the canaliculi with sutupak in cases of common canalicular duct obstruction is presented here. About 30 patients with block at the common canalicular duct, which was detected by dacryocystography were operated for dacryocystorhinostomy with intubation of both the canaliculi with sutupak No. 0 by rail roading technique with good results.
Dacryocystorhinostomy↗