Genetic services in Hong Kong.
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Biomedical subjects
Publications and source records attributed to A Ghosh.
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To test the general applicability of the hypothesis that diabetes mellitus causes increased polyol pathway activity, decreased tissue free myo-inositol, and resultant pathological changes in tissues susceptible to the ravages of diabetes, we measured glucose, sorbitol, and myo-inositol with quantitative histochemical techniques in layers of the cornea, the aortic myointima, the cardiac left ventricle and atrioventricular node (AVN), and retina and kidney after 19 days or 2 mo (mildly diabetic non-insulin-treated [MD] and severely diabetic insulin-treated [SD] groups) in the alloxan-induced diabetes model. In the aqueous humor, glucose rose linearly with increased serum glucose, sorbitol was markedly increased in the MD and SD groups, and myo-inositol did not change in any diabetic group. There was no change in glucose or sorbitol in aortic myointima in any group, but myoinositol was decreased in 19-day diabetic rabbits by 26%, unchanged in MD rabbits but paradoxically increased by 60% in SD rabbits. Glucose, sorbitol, and myo-inositol increased in all three corneal layers in SD rabbits but only in epithelium and stroma in 19-day and MD rabbits. AVN glucose and sorbitol did not change in 19-day diabetic, MD, or SD diabetic rabbits. AVN myo-inositol was three times higher than ventricular myo-inositol and did not appear to change in SD rabbits. Retinal pigmented epithelium myo-inositol was decreased 30% in SD rabbits. Glomerular myo-inositol was also decreased, but not significantly, in SD rabbits. We conclude that the paradoxical increase in corneal and aortal myo-inositol raises fundamental questions about the general applicability of the myo-inositol-depletion hypothesis.
Various methods have been used for the diagnosis of congenital fetal arrhythmias. Currently, M-mode echocardiography is the most widely used method. However, good tracings are often difficult to obtain because of unfavorable fetal positions, resulting in long durations of examination. In early gestation, the fetal heart is often too small for clear M-mode echocardiography. Doppler velocity waveforms of the fetal inferior vena cava represent the right atrial activity, whereas those of the aorta reflect ventricular contraction. Because of the proximity of the vessels, it is easy to obtain simultaneous recording in opposite channels of Doppler waveforms from both vessels. A visual relationship between the atrial and ventricular contractions may be clearly established and a diagnosis may be made. The findings of simultaneous pulsed Doppler velocimetry of the fetal aorta and inferior vena cava were assessed in different types of congenital fetal arrhythmia: congenital heart block, premature atrial ectopic contractions, premature ventricular ectopic contractions, and supraventricular tachycardia. The correct diagnosis was made as early as 13 weeks' gestation, showing the application of this method in early pregnancy.
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During the development of the nervous system, growing axons must traverse considerable distances to find their targets. In insects, this problem is solved in part by pioneer neurons, which lay down the first axonal pathways when distances are at a minimum. Here the existence of a similar kind of neuron in the developing mammalian telencephalon is described. These are the subplate cells, the first postmitotic neurons of the cerebral cortex. Axons from subplate neurons traverse the internal capsule and invade the thalamus early in fetal life, even before the neurons of cortical layers 5 and 6, which will form the adult subcortical projections, are generated. During postnatal life, after the adult pattern of axonal projections is firmly established, most subplate neurons disappear. These observations raise the possibility that the early axonal scaffold formed by subplate cells may prove essential for the establishment of permanent subcortical projections.
Reserpine at three doses (0.05, 0.2, and 0.8 mg/100 g body wt) has been injected intraperitoneally to seven unilaterally splanchnic denervated avian species, in order to ascertain the neural regulation of its action in avian adrenal medulla. The adrenomedullary catecholamines (CA) were estimated at 24 hr after reserpine injection. The findings revealed that reserpine at high doses caused 66-92% depletion of total CA from both the innervated and the denervated glands in all the species investigated. The low dose of reserpine in the passerine (common myna and bulbul) birds resulted in 40-84% reduction of both norepinephrine (NE) and epinephrine (E) from the adrenal glands irrespective of its nerve supply. As a contrast, it depleted 60-80% of both NE and E from the innervated glands as compared to 17-43% reduction from the denervated glands in nonpasserine (woodpecker, parakeet, and koel) birds. Interestingly, in other nonpasserine (pigeon and duck) birds, the low dose of reserpine depleted 66-71% of NE from the innervated glands as compared to only 2-13% reduction from the denervated glands. But in these birds, 60-85% depletion of E, however, occurred independent of neural regulation. The findings suggest that at high doses depletion of CA by reserpine is controlled by some nonneurogenic mechanisms. Generally speaking, at a low dose of reserpine, the splanchnic nerve probably modulates depletion of CA from the adrenal medulla of the nonpasserine birds while the same is governed by some nonneurogenic mechanisms in the passerine birds.
The maternal mortality rate in Hong Kong fell from 0.45/1000 total births in 1961 to 0.05/1000 total births in 1985. During the period between 1961 and 1985 there were a total of 438 maternal deaths and 2,193,012 births. Of the 438 deaths 150 (34%) were due to haemorrhage during pregnancy and childbirth (ICD 640, 641, 666), 89 (20%) were due to pre-eclampsia (ICD 642, 643) and 60 (13.7%) were due to ectopic pregnancy (ICD 633). Comparison of maternal deaths by cause between the periods 1961-1965 and 1981-1985 showed an 86% reduction in deaths due to haemorrhage and pre-eclampsia and a 72% reduction in deaths due to ectopic pregnancy. Pulmonary embolism was not a major cause of maternal mortality.
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Serum phospholipid fractions were quantitated by two dimensional thin layer chromatography in 85 apparently normal pregnant women at different gestational period. Fifteen healthy non-pregnant women matched for age served as controls. Normal chromatogram showed eight spots of serum phospholipid viz., phosphatidic acid (PA, 3.9 +/- 0.5%), cardiolipin (C, 7.2 +/- 0.4%), phosphatidylethanolamine (PE, 10.6 +/- 1.1%), phosphatidylglycerol (PG, 3.2 +/- 0.6%), lecithin (L, 34.5 +/- 1.8%), sphingomyelin (S, 31.0 +/- 1.4%), lysolecithin (LL, 8.6 +/- 1.2%) and phosphalidylionositol (PI, 1.0 +/- 0.2%). Serum total phospholipid which increased with gestational age, being lowest at 6 wk (220.2 +/- 4.8 mg/dl) and highest at 38 wk (290.3 +/- 4.5 mg/dl), started declining at term (275.8 +/- 5.8 mg/dl) and returned to levels in normal nonpregnant women (214.1 +/- 4.7 mg/dl) at 4 wk after delivery (217.2 +/- 3.3 mg/dl). PG was absent in both the first and second trimester and first appeared between 31-32 wk, i.e., in the third trimester of pregnancy when the mean per cent of PG was 0.7 +/- 0.4 per cent. During the first trimester when the L/S ratio was less than 1.2 the PI level was low (0.8 +/- 0.2%). Parallel to the increase in the L/S ratio to 2.0, the content of PI increased to 2.6 +/- 0.4 per cent. PG first appeared (0.7 +/- 0.4%) and PI concomitantly decreased (2.1 +/- 0.3%) when the L/S ratio exceeded 2.0 at 31-32 wk. Sequential analysis of maternal serum phospholipid fractions may be used as an additional tool in predicting gestational age of normal growing pregnancy.
An investigation of 71 patients (61 mantoux positive and 10 mantoux negative) with bacteriologically and radiologically proven primary pulmonary tuberculosis was undertaken for immunological analysis to evaluate cell mediated (E-rosette) and humoral (EAC-rosette and serum immunoglobulins; IgG, IgA & IgM) immune status. 41 age and sex matched normal subjects served as controls. An inverse relationship between cell mediated and humoral immune response was observed in tuberculous patients in general. Defects in cell mediated immune response was pronounced in mantoux negative cases. Fractionation of serum protein revealed a significant diminution in albumin level with a concomitant elevation in globulins particularly gammaglobulin levels. It appeared that there is a definite need to boost up T-cell mediated responses and to control the over activity of B-cell in these cases. Proper handling of the immune system by appropriate therapy might change the course of the disease.
An interesting and unusual case of abdominal aortic aneurysm with Leriche syndrome that presented with multiple vasculopathies and peptic ulcer is being reported.
A Bam HI restriction fragment length polymorphism in the interzeta hypervariable region (IZ HVR) of the zeta-alpha gene cluster was used for the prenatal diagnosis of a pregnancy at risk for Hb H hydrops fetalis. The parents had zeta-alpha thalassemia 1 and non-deletion alpha thalassemia, respectively, and a previous hydrops was missed using the conventional method of gene detection. In this prenatal diagnosis, linkage to IZ HVR was used to exclude non-deletion alpha thalassemia, and the numbers of zeta and alpha genes in the fetus were quantitated to predict the exact genotype. Confirmation was made by analysis of cord blood at delivery.
A single intraperitoneal (IP) melatonin injection (0.5 mg/100 g body wt.) caused an increase in norepinephrine (NE) fluorescence and elevation of NE content in newly-hatched pigeons (Columba livia), but a reduction of NE fluorescence and depletion of NE content in the adrenal medulla of newly-hatched crows (Corvus splendens) after 0.5 h of treatment. In contrast, in adults melatonin caused increase in NE fluorescence and elevation of NE content only in the parakeet (Psittacula krameri). Half an hour of IP melatonin treatment (0.5 mg/100 g body wt.) induced release of epinephrine (E) from the adrenal medulla of newly-hatched pigeon and parakeet. In contrast, in the adults melatonin caused more than a two-fold increase in E in the pigeon, and a significant increase in the crow. Single IP melatonin injection (0.5 mg/100 g body wt.) caused hypoglycemia in the newly-hatched parakeet and adult pigeon, and hyperglycemia in newly-hatched pigeon after 0.5 h of treatment. Melatonin failed to regulate glucose homoeostasis in newly-hatched and adult crow. Splanchnic denervation of the left adrenal gland was performed in the adult pigeon. The right adrenal served as the innervated gland. Melatonin-induced modulation of catecholamines following a single IP injection (0.5 mg/100 g body wt.) revealed significant increases in NE fluorescence and NE content at 4 and 12 h after treatment in the denervated gland only, which gradually approached normal levels 9 days after treatment.(ABSTRACT TRUNCATED AT 250 WORDS)
A collection of Vibrio cholerae non-O1 isolated from the aquatic environs of Calcutta, a cholera-hyperendemic area, were examined for the production of cholera toxin (CT), Shiga-like toxins (Vero toxins), heat-stable enterotoxin, and hemolysins. Two (0.5%) V. cholerae non-O1 isolates produced CT. The DNA from both these isolates also hybridized with a DNA probe containing sequences encoding the A subunit of CT. None of the strains produced Shiga-like toxins or heat-stable enterotoxin. Hemolytic activity was observed in 89.7% of the strains, of which 36.1% exhibited biological activity in the suckling mouse. However, none of them produced a hemolysin that cross-reacted with the thermostable direct hemolysin of Vibrio parahaemolyticus. It appears from this study that a small percentage of environmental V. cholerae non-O1 strains do possess the potential for causing cholera-like diarrhea.
Twenty phobic outpatients were treated by 9 weekly "interviews" at the console of a desk computer. Using a conversational style and multiple choice questions, the computer assessed the symptoms and agreed a hierarchy of self-exposure tasks. Each week the patient was given a diary sheet of tasks to practise daily. At his next visit his progress and motivation were assessed, and if he was succeeding he was encouraged to accept progressively more difficult tasks. This group was compared with a group of 20 patients (matched for age, sex and type of phobia) treated conventionally by a therapist in the preceding year. Progress was measured on standardized scales (both self- and clinician-rated). The two groups showed significant improvement on all the scales, and 75-80% of each group were much improved (scores reduced by 50%). The therapist treated group tended to be more severely ill at entry and to show greater improvement during treatment. Improvement was maintained at 6 month follow-up in both groups.
Eighty-four chronic phobic patients were randomly assigned to self-exposure in vivo instructed by either a psychiatrist, a computer or a book; mean therapy time per patient was respectively 3.1, 3.2 and 0 hours. Seventy-one patients completed treatment. All three groups improved substantially and similarly to 6 months follow-up, with no significant difference between them; self-exposure treatment was effective even without therapist contact. Among the three groups, initial expectation of help and positive attitude to the psychiatrist were equally high and related to subsequent rating of help received. All three groups rated the psychiatrist as more tolerant, reliable, and understanding than the computer or book, but these attitudes did not relate to outcome, were initially similar among all three groups, and changed minimally at 6 months follow-up.
The incidence of alpha-thalassemia trait (alpha-thal-1 and alpha-thal-2) among Southern Chinese in Hong Kong is about 3%. From June 1983 to September 1987, prenatal diagnosis for homozygous alpha-thal-1 was performed in 88 pregnancies at risk, using direct DNA analysis of amniotic fluid cells or chorionic villi. Twenty-one homozygous alpha-thal-1 fetuses were aborted and confirmed as Hb Bart's hydrops fetalis, and two were "Hb H" hydrops fetalis. Of 47 pregnancies delivered, 26 were alpha-thal-1 heterozygotes, 10 normal, eight alpha-thal-1/normal. Twenty-one pregnancies, diagnosed as alpha-thal-1/normal, await delivery. Based on a 6% incidence of beta-thalassemia minor among pregnant women in Hong Kong, the number of pregnancies at risk for beta-thalassemia major should be 288 per annum. However, since February 1984, only 25 diagnoses were performed. Comprehensive screening and education programs need to be implemented. The majority of beta-thalassemia defects in Southern Chinese are point mutations, single nucleotide insertions or minor deletions, not detectable by standard gene mapping techniques. With linkage analysis of the defective gene to polymorphic restriction sites, a definitive diagnosis can be obtained in 50% of the families, while in the remaining there is a 50% exclusion rate. We routinely use the Hind III-3' beta, Bam HI-3' beta, Ava II-beta, and Hinc II-psi beta sites for linkage analysis. For first pregnancies, the marked linkage disequilibrium of the Bam HI polymorphism can be applied in 29% of the cases. In nonconclusive cases, fetal blood beta/gamma globin chain synthetic ratio was used.(ABSTRACT TRUNCATED AT 250 WORDS)