Two sisters with Escobar syndrome

We report on 2 sisters with an autosomal-recessive multiple pterygium syndrome, type Escobar, consisting of multiple pterygia with severe contractures, short stature, and minor facial and external genital anomalies. The striking finding was severe muscular atrophy. We speculate that a neu-romuscular disorder is the underlying pathogenesis of Escobar syndrome. © 1995 Wiley-Liss, Inc.     

Isfahan Healthy Heart Programme: a comprehensive integrated community-based programme for cardiovascular disease prevention and control. Design,methods and initial experience

The Isfahan Healthy Heart Programme (IHHP) is a five to six year comprehensive integrated community-based programme for cardiovascular diseases (CVD) prevention and control via reducing CVD risk factors and improvement of cardiovascular healthy behaviour in a target population. IHHP started late in 1999 and will be finished in 2005-2006. A primary survey was done to collect baseline data from interventional (Isfahan and Najaf-Abad) and reference (Arak) communities. In a two-stage sampling method, we randomly selected 5 to 10 percent of households from randomly selected clusters. Then individuals aged > or = 19 years were selected for the survey. This way, data from 12,600 individuals (6300 in interventional counties and 6300 in the reference county) was collected and stratified according to living area (urban vs. rural) and different age and sex groups. The samples underwent a 30-minute interview to complete validated questionnaires containing questions on demography, socioeconomic status, smoking behaviour, physical activity, nutritional habits and other behaviour regarding CVD. Blood pressure and body mass index (BMI) measurements were done and fasting blood samples were taken for two hours post load plasma glucose (2 hpp), serum (total, HDL and LDL) cholesterol and triglyceride levels. A twelve-lead electrocardiogram was recorded in all persons above 35 years of age. Community-wide surveillance of deaths, hospital discharges, myocardial infarction and stroke registry was carried out in the intervention and control areas. Four to five years of interventions based on different categories such as mass media, community partnerships, health system involvement and policy and legislation have started in the intervention area while Arak will be followed without intervention. Considering the results of the baseline surveys, (assessments needed, the objectives, existing resources and the possibility of national implementation) the interventions were planned. They were set based on specific target groups like school children, women, work-site, health personnel, high-risk persons, and community leaders were actively engaged as decision makers. A series of teams was arranged for planning and implementation of the intervention strategies. Monitoring will be done on small samples to assess the effect of different interventions in the intervention area. While four periodic surveys will be conducted on independent samples to assess health behaviours related to CVD risk factors in the intervention and reference areas, the original pre-intervention subjects aged more than 35 years will be followed in both areas to assess the individual effect of interventions and outcomes like sudden death, fatal and nonfatal MI and stroke. The whole baseline survey will be repeated on the original and an independent sample in both communities at the end of the study.     

Ultrastructural changes in rat ovarian cells of fetuses and neonates from diabetic mothers

Maternal diabetes leads to increased blood glucose concentration in the mother and consequently in the fetus, causing various neonatal problems. This study was conducted to evaluate the effect of maternal diabetes on fetal ovarian structure. Forty adult female rats were divided into two equal groups. Diabetes was induced in one group by alloxan. Both groups became pregnant by natural mating. At days 14 to 20 of pregnancy and day 30, day 60, and day 90 after birth, the fetuses and neonates were collected from both groups and the female genital system was isolated from them. The numbers of germ cells were measured using routine histological techniques in fetuses. In the neonatal ovarian samples, various cellular parameters were determined using transmission electron microscopy (TEM) technique. Results revealed a significant decrease in the number of germ cells in the fetal female gonads in the gonads of fetuses from diabetic mothers compared to those of control. Results of TEM revealed some differences in the luteal cells and oocytes of primordial follicles in ovaries of neonates from diabetic mothers compared to that of control. Mitochondrial abnormalities were seen as mitochondrial cristae were destroyed and vacuolation occurred in the mitochondria and the nuclei of luteal cells were darken and condensed. It is generally concluded that maternal hyperglycemia affects fetal female gonads illustrated by a decrease in the oocytes and alteration in the mitochondria and nuclei of oocytes and luteal cells in neonatal ovaries.     

Steroid therapy for idiopathic retroperitoneal fibrosis: dose and duration

PURPOSE: Idiopathic retroperitoneal fibrosis is an uncommon disease of unknown etiology that may involve the ureters and other retroperitoneal structures. Surgical ureterolysis as well as medical treatment with steroids have been used to treat these patients. However, there is no agreement as to the dose and duration of steroid. We adopted a regimen of long-term steroid use in this prospective study. MATERIALS AND METHODS: We treated 12 patients with idiopathic retroperitoneal fibrosis with a regimen of steroids during a 10-year period. Tissue diagnosis was established by biopsy of all lesions and ureteral obstruction was managed with insertion of a nephrostomy tube or a ureteral stent. The initial dose of prednisolone was 60 mg. on alternate days for 2 months and was tapered during the following 2 months to a daily dose of 5 mg. The total duration of prednisolone use was 2 years. RESULTS: Of the 12 patients 11 who completed this treatment regimen have been followed for a duration of 26 to 132 months (median 63.1) after discontinuation of treatment. Good response in the form of relief of symptoms and regression of the mass occurred in 9 cases and there were 2 failures. In 1 case the retroperitoneal mass did not regress and surgical ureterolysis was required. In the 2nd case symptoms recurred after discontinuation of steroid and a further small dose of steroids was required. Function deteriorated in 1 of 19 functioning renal units. No steroid related serious side effects developed. CONCLUSIONS: This regimen of steroid may be used as the primary mode of treatment for the majority of patients with idiopathic retroperitoneal fibrosis with minimal complications. Patients with idiopathic retroperitoneal fibrosis should be followed periodically for the rest of their lives.     

Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up

We describe a male patient with lobar holoprosencephaly, ectrodactyly, and cleft lip/palate, a syndrome which has been seen previously in only six patients. In addition, our patient developed hypernatraemia, which has been described in three patients before.     

Information optimization in coupled audio-visual cortical maps

Barn owls hunt in the dark by using cues from both sight and sound to locate their prey. This task is facilitated by topographic maps of the external space formed by neurons (e.g., in the optic tectum) that respond to visual or aural signals from a specific direction. Plasticity of these maps has been studied in owls forced to wear prismatic spectacles that shift their visual field. Adaptive behavior in young owls is accompanied by a compensating shift in the response of (mapped) neurons to auditory signals. We model the receptive fields of such neurons by linear filters that sample correlated audio-visual signals and search for filters that maximize the gathered information while subject to the costs of rewiring neurons. Assuming a higher fidelity of visual information, we find that the corresponding receptive fields are robust and unchanged by artificial shifts. The shape of the aural receptive field, however, is controlled by correlations between sight and sound. In response to prismatic glasses, the aural receptive fields shift in the compensating direction, although their shape is modified due to the costs of rewiring.     

Polyurethane internal ureteral stents in treatment of stone patients: morbidity related to indwelling times

The morbidity and complications associated with use of internal polyurethane ureteral stents in a series of 290 stone patients treated endourologically or with extracorporeal shock wave lithotripsy were retrospectively reviewed. Of the 299 stents retrieved 141 were also tested for patency to relate the rate of luminal blockage with stent caliber, indwelling time and clinical evidence of obstruction in the stented tract. Stent indwelling times ranged from a few days to 18 months: 11.3% were indwelling longer than 6 months and 1.9% were lost to followup. Incrustation occurred in 9.2% of the stents retrieved before 6 weeks, 47.5% indwelling 6 to 12 weeks and 76.3% thereafter. In 19 cases over-all (6.4%) an auxiliary procedure was required to decrease incrusted stone burden and enable stent retrieval. Other complications included stent migration (3.7%), infection (6.7%) and breakage (0.3%). Despite a 30% rate of luminal blockage in stents retrieved after indwelling times up to 3 months, the incidence of clinical obstruction in stented tracts up to 3 months was 4%, confirming other reports that significant urine flow occurs around rather than through hollow, vented stents. Our findings underline the importance of restricting the use of stents to stone patients who will be reliable at followup. Morbidity was minimal if stent indwelling times did not exceed 6 weeks.     

Adaptation of an indirect enzyme-linked immunosorbent assay for seroepidemiological studies of enzootic bovine leukosis

The aim of this study was to compare a domestic indirect enzyme-linked immunosorbent assay (DI-ELISA) and an in-house agar gel immunodiffusion (AGID) test with a commercial indirect ELISA (CI-ELISA) test for the detection of antibodies to bovine leukaemia virus (BLV). BLV proteins were harvested as described by OIE and used in both the DI-ELISA and AGID tests. Analysis of negative sera showed that consideration of a cutoff equivalent to three times the standard deviation value above the mean value of the negative control sera provided an acceptable specificity and reduced the risk of false positive results for the DI-ELISA test. From 460 serum samples, 425 (92%), 416 (90%) and 435 (94%) sera were found to be negative when using either the CI-ELISA, DI-ELISA or AGID test. Of the six serum samples which yielded suspicious results with the CI-ELISA, four were found to be positive by the DI-ELISA, but all of them were negative by the AGID test. DI-ELISA and AGID tests’ relative (to CI-ELISA) sensitivities were 97% and 86%, respectively. DI-ELISA and AGID tests’ relative (to CI-ELISA) specificities were 84% and 100%, respectively. Comparison of the results from a native breed, Sarabi, with Holstein showed that there is no significant (p?<?0.05) difference in the frequency of enzootic bovine leukosis between the two.