Saethre‐Chotzen syndrome: Notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation

Saethre‐Chotzen syndrome is an autosomal dominant disease characterized by craniosynostosis, ptosis, and limb and external ear abnormalities. Variable expressivity is a well‐known phenomenon in this disorder. A large Indian family has been recently identified as carrying a nonsense TWIST mutation (Q28 X) in 17 members, of whom 16 were examined in detail. Only 4 (25%) of the patients showed patent craniostenosis, namely, oxycephaly. The penetrance of craniosynostosis in this family is lower than previously reported in the literature. Fifteen patients (93%) had moderate to severe ptosis. Minor limb and external ear abnormalities were present in most patients. Eyelid features were the hallmark of the disease for 12 members of the family, suggesting that mutations in TWIST may lead to a phenotype with mainly palpebral features and no craniostenosis. The clinical analysis of this large family clearly illustrates the significant variable expressivity, probably related to haploinsufficiency because of the TWIST mutation. This phenotypic variability remains unclear but could be the result of modifier genes and/or genetic background effect, as noticed previously in the transgenic twist‐null heterozygous mice. © 2002 Wiley‐Liss, Inc.     

3-MHPG as a non-predictor of antidepressant response to imipramine and electroconvulsive therapy

The urinary excretion of 3-methoxy, 4-hydroxyphenyl-glycol, (3-MHPG) was measured in 20 unipolar depressed patients before treatment with imipramine and electroconvulsive therapy (ECT) to investigate the relationship between pretreatment urinary excretion of 3-MHPG and clinical response. There was no difference in 3-MHPG excretion for depressed patients and controls. There was no significant difference between the mean percentage reduction of Hamilton Depression Rating Scale Scores in "low" and "high" excretors of 3-MHPG in the imipramine and ECT group of patients after four weeks of treatment.     

Effect of Pesticides and Chemical Fertilizers on the Nitrogen Cycle and Functional Microbial Communities in Paddy Soils: Bangladesh Perspective

Bulletin of Environmental Contamination and Toxicology - The concept of the Nitrogen (N) cycle has been modified over the years based on certain new pathways, including comammox, anammox, and DNRA...     

Mycosis fungoides : Tumour D'emblee

A 60-years old male patient presented with nodules and noduloulcerative lesions of mycosis fungoides (MF) of 6 months duration without any previous premycotic, patch or plaque stage.     

Measurement of surface alpha contamination using electret ion chambers.

Electret ion chambers are inexpensive, light-weight, commercially available, passive charge-integrating devices for accurate measurement of different radiations. Performance of electret ion chambers for surface alpha contamination measurement was evaluated. Ion chambers of two types and electrets of three thicknesses were used for the study. Calibration of the electret ion chambers was performed using reference alpha standards of different energies and radioactivities. Effects of various parameters such as chamber dimensions, electret thickness, alpha particle energy, position of alpha source from the chamber centerline, source localized or uniformly distributed, level of alpha contamination, Mylar window covering the chamber, and ambient radon and gamma radiation on the response of the electret ion chambers were determined. Suitable combinations of chambers and electrets to measure surface alpha contamination were determined.     

Nutritional status of pavement dweller children of Calcutta City

Pavement dwelling is likely to aggravate malnutrition among its residents due to extreme poverty, lack of dwelling and access to food and their exposure to polluted environment. Paucity of information about nutritional status of street children compared to that among urban slum dwellers, squatters or rural/tribal population is quite evident. The present study revealed the magnitude of Protein Energy Malnutrition (PEM) and few associated factors among a sample of 435 underfives belonging to pavement dweller families and selected randomly from clusters of such families, from each of the five geographical sectors of Calcutta city. Overall prevalence of PEM was found almost similar (about 70%) to that among other 'urban poor' children viz. slum dwellers etc., but about 16% of them were found severely undernourished (Grade III & V of IAP classification of PEM). About 35% and 70% of street dweller children had wasting and stunting respectively. Severe PEM (Grade III & IV) was more prevalent among 12-23 months old, girl child, those belonged to illiterate parents and housewife mothers rather than wage earners. It also did increase with increase of birth rate of decrease of birth interval.     

Primary liposarcoma of the orbit: a clinicopathological study

Primary liposarcoma of the orbit is a rare tumour. There are very few cases of orbital liposarcoma reported in the literature, mostly of the myxoid variety. In this paper, the authors report the clinical presentation, histopathological features, results of diagnostic studies and management of a case of orbital low grade myxoliposarcoma with local recurrence, together with a review of the literature.     

Pregnancy outcome in patients with repeat visits to the labor observation area near term

Patients whose pregnancies are near term and who repeatedly visit the labor observation area but are found not to be in labor and have no clear diagnosis for their complaints remain a source of concern for the obstetrician. In order to determine whether this is a population with special perinatal risks, such cases were reviewed over a 4-month period at Charity Hospital in New Orleans. Seventy-one patients were identified who had repeatedly visited the labor observation area near term. Compared with those in the general obstetrics population, these patients had a significantly increased risk of cesarean section for "failure to progress." Repeat visitors to the labor observation area should be viewed as having a high risk for later abnormalities of active labor. Careful management of labor abnormalities in such patients could theoretically lower their need for cesarean section.