morpho-etiological description of congenital limb anomalies

Limb anomalies rank behind congenital heart disease as the most common birth defects observed in infants. More than 50 classifications for limb anomalies based on morphology and osseous anatomy have been drafted over the past 150 years. The present work aims to provide a concise summary of the most common congenital limb anomalies on a morpho-etiological basis. In a retrospective study, 70 newborns with anomalies of the upper and/or lower limbs were ascertained through clinical examination, chromosomal analysis, skeletal surveys and other relevant investigations. Fetal causes of limb anomalies represented 55.8% of the cases in the form of 9 cases [12.9%] with chromosomal aberrations [trisomy 13, 18 and 21, duplication 13q and deletion 22q] and 30 cases [42.9%] with single gene disorders. An environmental etiology for limb anomalies was diagnosed in 11 cases [15.7%] as amniotic band disruption, monozygotic twin with abnormal circulation, vascular disruption [Poland sequence, sirenomelia and general vascular disruption] and an infant with a diabetic mother. Twenty cases [28.5%] had limb anomalies as part of sporadic syndromes of unknown etiology. The morpho-etiological work-up of limb anomalies adopted in the present study is valuable for detecting the cause of the anomaly and is crucial for its prevention. Prevention can be achieved by proper genetic counseling, which includes recurrence risk estimation and prenatal diagnosis

Two-step eragile X-screening programme in mentally retarded males

The goal of the present two-step screening program [clinical selection followed by cytogenetic and molecular studies] is to identify affected males without adding too much load on the cytogenetic laboratory, and to inform their families about the diagnosis so that female relatives at risk can consider this information in their family planning and reproductive options. A total of 306 adult instituted males with mental retardation of unknown aetiology were screened for 10 clinical traits associated with the fragile X [fra[X]]syndrome, including physical features, behaviour and family history of mental retardation. Sixty-one [19.9%] males with a clinical score of > 5 were selected for cytogenetic and molecular analyses, thereby reducing the workload on the laboratory by 81.1%. Eleven patients [18%] were positive cytogenetically and confirmed by Southern blotting, so giving a 3.6% overall incidence of the fra[X] syndrome among the instituted males with mental retardation. The high clinical score increased the likelihood of a positive diagnosis [15% of the fragile X cases had a clinical score of 5-7, and 66% had a score of 8-10]. The expression of the fragile site at Xq27.3 ranged between 7%-34%, with a mean of 19.5%. Two patients had constitutional chromosomal abnormalities. This two-step screening program is cost effective and suitable for screening a large population at risk, with the advantage of reducing the workload on the laboratory without apparently impairing the ability to find patients with the fra[X] syndrome

Serum soluble fas in children with idiopathic dilated cardiomyopathy

The present study aimed to evaluate the role of serum soluble Fas [sFas] "APO-l receptor", as an inhibitor of apoptosis [programmed cell death] in children patients suffering from idiopathic dilated cardiomyopathy [IDCM] and its association to New York Heart Association [NYHA] Functional class. The study included 20 children patients aged 5-13 years, suffering from IDCM and 20 age and sex matched control subjects. Serum level of sFas was measured by enzyme linked immunosorbent assay [ELIZA] which showed that sFas is increased significantly with increased NYHA functional class. However, serum levels of sFas were similar in normal subjects and patients with functional class I, but there were significant differences between functional classes II, III and IV. Serum levels of sFas were significantly higher in patients with an elevated Pulmonary Capillary Wedge Pressure [PCWP] > 18 mm Hg than in those with values <18 mm Hg. Six months later, all patients were re-evaluated for their functional class and serum sFas levels. Serum levels of sFas decreased in four patients with clinical improvement but were similar in patients with no change in functional class. The increase in sFas may play an important role in the pathophysiologic mechanisms of IDCM in children

Synthesis of certain 1,3,5-thiadiazepine derivatives as potential antimicrobial agents

The reaction of fluorinated and methylmercaptoarylguanidine systems with methylisothiocyanate in neutral medium followed by cyclization with an active alpha-haloketone afforded the 2,4,6-tri-substituted thiadiazepine derivatives [7a-j] expected to possess antibacterial and antiviral activities