Biomedical subjects
Publications and source records attributed to D Kumar.
A family is reported in which several members have the Cornelia de Lange syndrome and other members show facial dysmorphism and other features reminiscent of this syndrome. The segregation pattern is consistent with the view that the dysmorphic features (variable) are the manifestation of a single gene in heterozygous form. Chromosome abnormality was not found.
Mitochondrial and cytosolic malic enzymes were assayed radiochemically in fibroblasts from six patients suffering from Friedreich's ataxia in order to verify earlier reports of abnormalities in these enzymes. No abnormalities could be detected in the activities of either enzyme. On cellulose acetate electrophoresis a band of enzyme activity corresponding to the mitochondrial isoenzyme was detectable contrary to earlier reports. Possible explanations for the disparity of results between different laboratories are discussed.
During preoperative staging the authors performed upper abdominal computed tomographic (CT) scanning in 38 patients with non-small cell lung carcinoma. Five of the 38 patients had occult adrenal metastases based on CT images. Two of these five patients, who would otherwise have been surgical candidates for definitive thoracotomy, underwent percutaneous fine-needle aspiration cytology of the suspected adrenal metastases. Cytology results in both cases were positive for metastatic carcinoma, thereby precluding thoracotomy. Upper abdominal CT scanning may optimize preoperative staging of selected non-small cell lung cancer patients.
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It has been shown that both serum triiodothyronine (T3) and plasma fibronectin values decline with fasting and increase with treatment of diabetic ketoacidosis in a paralles manner. To evaluate the mechanism responsible for these changes, we examined the effects of both oral T3 administration and fasting in six healthy, adult subjects. Initial plasma fibronectin values were normal in four subjects (group 1) and decreased in two subjects (group 2). Initial serum T3 and thyroxine (T4) values were normal in both groups. Despite a substantial rise in serum T3 values with oral T3 administration, plasma fibronectin fell in group 1 subjects. Fasting caused a significant decline in serum T3 levels, but only a small further decline of plasma fibronectin concentrations. Serum T3 levels rose after 1 week of refeeding, whereas plasma fibronectin levels in group 1 did not return toward normal. Plasma fibronectin values did not change in group 2 subjects with oral T3, fasting, or refeeding. In conclusion, there is no simple cause-and-effect relationship between previously observed changes in plasma fibronectin and serum T3 concentrations. High doses of oral T3 will lower plasma fibronectin levels in subjects with initially normal plasma fibronectin values and a normal caloric intake.
A family is reported in which various skeletal abnormalities have been segregating over three generations. The Great-grandfather (11) of the consultand had features consistent with Grebe chondrodysplasia. The other members of the family have brachydactyly, radiologically characterised by short first metacarpals and short middle phalanges of the index and little fingers. The possibility of association of familial brachydactyly and Grebe chondrodysplasia is discussed. An attempt has been made to deal with the genetic counselling problem in this particular family.
Indian Childhood Cirrhosis (ICC) is a unique syndrome with characteristic clinical, epidemiological and histopathological features which is a major cause of mortality in India in children 1 to 4 years of age. The aetiopathogenesis of this invariably fatal disease is still obscure. Various theories of its aetiopathogenesis include genetic, viral, metabolic, toxic, autoimmune or a combination of factors. The present article deals with a brief review of literature to elucidate the possible genetic mechanisms involved. In earlier reports autosomal recessive (AR) mode of inheritance was suggested. A familial susceptibility, geographic limitation to the Indian sub-continent and some unknown environmental factors strongly suggest the multifactorial inheritance as the most likely genetic mechanism involved.
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An analysis of 84 children with peptic ulcer disease seen at The Hospital for Sick Children, in London, revealed only 30 primary ulcers over a period of 30 years. While most of these responded to conservative measures, it is recognized that a significant proportion may ultimately require surgical treatment for recurrence of the disease in adult life. Secondary ulcers occurred with almost twice the frequency of primary disease. Hemorrhage was the first sign of the ulceration in 55 per cent of these seriously ill children and could be controlled with conservative measures in 14 of 17 patients. Only three patients required surgical treatment for uncontrolled hemorrhage. Secondary ulceration was largely a terminal event and despite intensive resuscitation carried a high mortality (77.7 per cent).
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Plasma fibronectin and serum thyroid parameters were determined in 6 hyperglycemic nonketoacidotic patients (HNK) and 12 subjects with diabetic ketoacidosis (DKA). The DKA patients showed a marked increase in both plasma fibronectin and serum T3 over 5 days of insulin treatment [175.2 +/- 18.1% (+/- SEM) and 208.7 +/- 17.6% of initial values respectively], while these parameters did not change in the HNK patients despite equivalent control of diabetes. Serum rT3 levels declined, as expected, to 65.8 +/- 10.9% of the initial values in the DKA patients, but did not change in the HNK patients. There was a significant positive correlation between changes in plasma fibronectin and serum T3 values in the DKA patients (r = 0.5; P less than 0.005). Other reports have shown a decrease in plasma fibronectin concentrations in fasted patients, a well known low T3 state; therefore, the association between changes in plasma fibronectin and serum T3 values may be a widely observed phenomenon. The parallel changes in fibronectin and T3 may reflect alterations in the metabolic state of these patients. The precise nature of the relationship between changes in fibronectin and T3 concentrations requires additional investigations.
To evaluate possible advantages of human insulin of recombinant DNA origin (HI) in the treatment of diabetic patients, we compared cellular and humoral immunoreactivities of HI and porcine insulin (PI). Anti-insulin IgE bound equal amounts of 125I-HI and 125I-PI. There was no difference between HI- and PI-stimulated lymphocyte transformation indices. The binding of 125I-HI with circulating anti-insulin IgG was lower compared with 125I-PI binding (12.1 +/- 1% versus 15.4 +/- 1.5%, P less than 0.001) in 60 insulin-treated cases. Thirteen sera were selected for high antibody titers and analyzed in detail. In the competitive inhibition assays, a 50% displacement of 125I-PI required a fourfold higher concentration of HI than PI. Although total insulin binding capacities were almost equal, 63 +/- 11 nM/L for PI and 60 +/- 12 nM/L for HI, the high-affinity antibodies had significantly reduced avidity for HI compared with PI. These differences in avidities suggest that HI may be useful in treatment of immune-type insulin resistance.
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The effects of diabetes mellitus on serum thyroid hormone parameters were studied in 54 patients divided into 4 groups. Treated asymptomatic patients (group I) had normal thyroid values which did not correlate with serum or urinary glucose. Untreated nonketoacidotic patients (group II) showed a mild persistent depression in T3 and an elevation in rT3. Patients with ketoacidosis with a brief history of symptoms (group III) had a moderate T3 decrease and a mild rT3 elevation which quickly resolved with treatment. Ketoacidotic patients with a long history of symptoms (group IV) had marked depression of T3 and elevation of rT3 which was only partially rectified by treatment. Serum T4 was generally normal, except for a minimal decrease on the day after admission, probably resulting from rehydration and a subsequent increase associated with an increase in TSH. We concluded that thyroid hormone parameters were not influenced by variations in serum glucose, but seemed to reflect the effects of a preexisting catabolic state, ketoacidosis, or both.
Basal plasma glucose, glucose tolerance, and insulin secretion were investigated in young and mature athymic nude BALB/c mice and in age-matched controls. Basal plasma glucose levels in male athymic nude mice were similar to those of controls at 1, 3, and 4 wk of age. At 6, 8, and 12 wk of age, male athymic nudes had significantly higher basal plasma glucose levels when compared with controls (P less than 0.01). Plasma immunoreactive insulin concentrations were similar in athymic nudes and controls at 1 wk of age, but at 3 wk of age and subsequently at 6, 8, and 12 wk athymic nude mice had significantly decreased insulin levels when compared with their age-matched controls (P less than 0.05). We found impaired glucose tolerance in male athymic nude mice at all age groups when compared with both female athymic nudes and control BALB/c mice. The discovery of a spontaneous diabetic syndrome (hyperglycemia, impaired glucose tolerance, and decreased insulin secretion) in a colony of athymic nude mice may provide an excellent model for studying the genetics and interactions between the immune and endocrine systems.
Autoradiographic studies using 3H-uridine in the salivary gland of adult Lygaeus sp. were carried out. The gland cell nuclei, particularly the multiple nucleoli, are the sites of incorporation of the label exhibiting RNA synthesis. The labelled molecules (RNA) are transported to the cell cytoplasm and then into the gland lumen in which no turnover of the radioactivity is observed.
Six normally menstruating women were inserted each with a single silastic implant-D releasing norethindrone acetate (NETA). The levels of endogenous hormones, FSH, LH, E2 and progesterone, were estimated by radioimmunoassay (RIA) procedures in the control and treatment cycles. In addition, the levels of drug in the serum as norethindrone (NET) which is a major metabolite of NETA were also estimated by RIA procedures in the treatment cycles. In all, 12 treatment cycles were studied. In the initial treatment cycles (1st/2nd or 3rd), the serum NET levels were either 1 ng/ml or above. The LH and FSH showed either normal or suppressed mid-cycle peaks, but the progesterone levels were completely suppressed. In the sixth treatment cycles, the serum NET levels were either 0.5 ng/ml or below. The FSH and LH mid-cycle peaks were lower but distinct while the luteal progesterone levels were of normal ovulatory type. These studies lead us to the conclusion that a serum level of NET of the order of 1 ng/ml is required to bring about suppression of luteal progesterone, either as a result of direct action on the ovary or through suppression of pituitary gonadotropins. When the serum level falls to 0.5 ng/ml or below, the suppressive effect is removed and ovulatory pattern of progesterone returns.