Rediscovering the Bhore Committee report.
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Biomedical subjects
Publications and source records attributed to I C Verma.
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Serial ultrasound scans were done in 150 fetuses between 14th to 22nd week of gestation to establish the nomograms of anterior ventricular hemisphere ratio (AVHR) and posterior ventricular hemisphere ratio (PVHR). Of 150 fetuses, 100 were in the high risk group for neural tube defect and 50 were in the control group. The study indicates that the value of AVHR decreases from 0.62 to 0.50 and PVHR from 0.60 to 0.50 between 14th to 22nd week of gestation. No statistical difference was observed in the values of AVHR and PVHR in high risk and low risk (control) cases (p > .001). The value of AVHR or PVHR greater than 0.5 after 18 weeks of gestation or more was considered pathological for hydrocephalus. In 2, out of 3 cases of hydrocephalus detected in our series, the value of AVHR and PVHR was 0.7 at 20 weeks and in the third case it was 0.6 at 18 weeks. All of these values were 3 SD above the normal for the period of gestation.
Two hundred term healthy neonates were examined and 14 anthropometric measurements were taken in the face and ear region. Difference between the sexes was observed in ear length, ear breadth, and philtrum. Significant correlation was found between ear placement and ear length; and outer and inner canthal distances (p less than 0.001). The paper provides baselines data for facial growth measurements and discusses the utility of these measurements in detecting dysmorphogenesis in neonates.
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Niemann-Pick group of diseases are rare autosomal recessive disorders of lysosomal enzymes. These are divisible into six types depending on clinical and biochemical features. On the basis of sphingomyelinase assay in five cases of Niemann-Pick disease, three cases were classified as type IA, one as type IS and one as type IIS. Their clinicopathological profiles are compared with 17 cases reported previously from India.
A 10 year prospective study of 14 patients with mixed gonadal dysgenesis (MGD) and six patients with dysgenetic male pseudohermaphroditism (DMP) is reported. All of them had internal mullerian structures, along with unilateral or bilateral dysgenetic testes, ambiguous external genitalia. Twelve had been brought up as male, nine of whom had a unilateral descended testis. Eight had been reared as females, as they had bilaterally undescended gonads, and ambiguous genitalia. Clinical examination, retrograde genito-urethrography and cytogenetic studies suggested the diagnosis in 16 patients, while four were diagnosed on inguino-abdominal exploration for undescended testis. This report delineates more clearly the clinical profile of these orders. All the patients reared as male were assigned the male gender following abdominal gonadectomy, retention of scrotal testis and male genitoplasty. The eight patients who were reared as females underwent bilateral salpingo-gonadectomy and female genitoplasty. This management differs from the usual recommendation that all such children should be reared as females. Ten patients (50%) had maternal history of previous abortion/stillbirth, or drug intake in the first trimester of pregnancy suggesting a role of these factors in the etiology. All cases of DMP had a 46,XY karyotype, while eight of 14 cases of MGD had mosaicism with 45X/46,XY cell lines in blood or gonadal cultures. The clinicopathological features of patients of MGD and DMP were similar. It is suggested that these two disorders represent different spectra of the same disorder. A unifying concept of etiopathogenesis is proposed.
During 1981-88, 63 cases of female pseudohermaphroditism (FPH) were seen at the Intersex clinic at AIIMS, of whom 34 (54%) were diagnosed as due to congenital adrenal hyperplasia (CAH). Though ambiguity was present at birth in most cases, only one child was brought immediately after birth, while 14 presented after one year. Family history of affected siblings and fetal wastage was present in 10. Salt wasting symptoms were present in 13 (38.2%), evidence of early virilization in 10 (29.4%) and generalised hyperpigmentation in 7 (20.6%). Clitoromegaly was present in 30 children with labial fusion in 10 and scrotalisation of labia in 6. The urogenital opening was single in 25 (73.5%). Buccal smear was positive for sex chromatin in 19. Chromosomal pattern showed 46 XX in 33. Dyselectrolytemia was present in 16 children. Bone age was advanced in all. Adrenal hyperplasia could be documented in 3 on CT scan. All the girls were put on hydrocortisone or prednisolone, and fluodrocortisone was given only to children with salt wasting CAH. Children with CAH are being brought to medical attention much too late and investigative and therapeutic facilities are grossly inadequate. There is a need to educate primary care physicians for early case detection and provide minimum diagnostic and therapeutic facilities in regional centres.
We assayed alpha fetoprotein (AFP) in serum samples from 2,735 women during 14 to 20 weeks of gestation. Serum AFP levels were elevated in the presence of neural tube defect (NTD) and gut atresia in fetus, twin pregnancies, preterm delivery and neonatal complications. In two of the 23 cases of fetal NTD the diagnosis was suggested by AFP assays, with apparently normal ultrasound findings. Low maternal serum AFP levels were associated with chromosomal abnormalities and hydatidiform molar pregnancy. Calculation of risk for Down syndrome based on maternal serum AFP and maternal age helped to reduce the number of women requiring amniocentesis. Maternal serum AFP assay was helpful in the management of threatened abortion, suspected intrauterine death, and maternal toxoplasma infection. In seven cases where maternal serum AFP was high but ultrasound studies were normal, male babies were delivered. Thus maternal serum AFP assay proved useful in narrowing down the group of women requiring more detailed surveillance and diagnostic studies.
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Assay of hexosaminidase A and B enzymes in four cases with developmental regression and cherry red spot on fundus examination confirmed that three cases had Tay-Sachs disease, and one case had Sandhoff disease. Prenatal diagnosis was carried out by hexosaminidase enzyme assay in amniotic fluid and cells in one family, and chorionic villus sample in the second family. The fetus was diagnosed to be unaffected in one, and affected in the other family. Assay of hexosaminidase A and B is useful for specific diagnosis of GM2 gangliosidosis, and for prenatal diagnosis to reduce the burden of these disorders.
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