PREVALENCE OF ENDEMIC GOITRE IN SCHOOL CHILDREN: SHIRUR (DIST. PUNE,MAHARASHTRA)

A survey for estimation of goitre in school children in the Rural Health Training Centre, Shirur area was undertaken. A total of 4664 students from 17 schools were surveyed. The goitre prevalence was found to be 59.8% with visible goitre rate of 6.2% in pre- and peri-adolescent (10–19 years) age group. Thus a highly endemic goitre focus was located in Shirur, area in Pune District (Maharashtra). This area is located on the eastern tail-end slopes of Sahyadri Hills in Balaghat ranges, situated at an altitude of 533 metres. The area is generally drought prone and receives scanty rain, with poor agricultural practices. Environmental deficiency of iodine was found to be the main cause for this high prevalence of goitre.KEY WORDS: Goitre endemic, Iodine     

HLA class I and II antigen phenotypes of North American Indians from Minnesota: implications for marrow transplants using unrelated donors

As a result of an appeal for a bone marrow donor for a North American Indian (Native American) patient, 261 Native Americans from our community were typed for HLA-A,B,DR antigens, and 51 were typed for HLA-A,B antigens only. The HLA antigen frequencies of the Native Americans were compared with those of 12,881 white bone marrow donors and were found to differ markedly. To investigate the implications these differences in HLA antigen frequencies would have for the location of unrelated bone marrow donors, the HLA types of 12 Native American bone marrow transplant patients from our institution were used to search among 5389 HLA-A,B,DR-typed white donors in the National Marrow Donor Program file and the file of 261 HLA-A,B,DR-typed Native American donors. In the white donor file, at least two donors were found that matched at all HLA-A,B,DR antigen loci of one Native American patient (8%). Using the Native American donor file, which was less than one-twentieth the size of the white donor file, and HLA-A,B,DR-matched donor was also found for one (8%) of the patients. These results suggest that although donors for nonwhites can be identified in a file of HLA-typed white volunteers, the probability of finding a suitably matched donor for such individuals is enhanced if donors representing racial or ethnic minorities are included in unrelated donor registries.     

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy, myoclonus, progressive neurological deterioration and glycogen-like intracellular inclusion bodies (Lafora bodies). A gene for EPM2 previously has been mapped to chromosome 6q23- q25 using linkage analysis and homozygosity mapping. Here we report the positional cloning of the 6q EPM2 gene. A microdeletion within the EPM2 critical region, present inhomozygosis in an affected individual, was found to disrupt a novel gene encoding a putative protein tyrosine phosphatase (PTPase). The gene, denoted EPM2, presents alternative splicing in the 5' and 3' end regions. Mutational analysis revealed that EPM2 patients are homozygous for loss-of-function mutations in EPM2. These findings suggest that Lafora disease results from the mutational inactivation of a PTPase activity that may be important in the control of glycogen metabolism.      

Agrin in the CNS: a protein in search of a function?

The extracellular matrix molecule agrin mediates the motor neuron induced accumulation of acetylcholine receptors (AChR) at the neuromuscular junction. Agrin is also present in the CNS. However, while its spatiotemporal pattern of expression is consistent with a function in neuron-neuron synapse formation, it also suggests a role for agrin in other aspects of neural tissue morphogenesis. Here we review the data supporting these synaptic and non-synaptic functions of agrin in the CNS. The results of studies aimed at identifying a neuronal receptor for agrin (NRA) and its associated signal transduction pathways are examined. Possible roles for agrin in the etiology of diseases affecting the brain are also discussed.     

Invasive pneumococcal infection in children, 1981-92: A hospital-based study

Objective: To document the pattern and sequelae of invasive pneumococcal infection in hospitalized children.
Methodology Retrospective review of Streptococcus pneumoniae (Sp) isolates from normally sterile sites from 1981 to 1992 at three paediatric centres in Sydney for demographic data, spectrum of disease, predisposing conditions, mortality, and sequelae from meningitis.
Results: Four hundred and thirty-one episodes in 417 patients were identified. Foci of infection were: meningitis, 34%; pneumonia, 29%; bacteraemia without apparent focus, 30%; and other foci, 7%. Sixty-one per cent of all cases and 64% of cases with meningitis were less than 2 years old. Predisposing conditions were present in 37%, were significantly more common in patients over age 2 years and were more common with foci other than meningitis. Overall mortality was 6.6% whereas the mortality for those with meningitis was 8%. Neurological sequelae were identified in 34% of previously normal children, and severe hearing loss occurred in 11.5%.
Conclusions The high morbidity and mortality from invasive pneumococcal infection in children justifies further evaluation of preventive strategies.     

The filaggrin null genotypes R501X and 2282del4 seem not to be associated with psoriasis: results from general population study and meta‐analysis

Background Psoriasis vulgaris could be associated with the filaggrin null genotype since certain known susceptibility loci for psoriasis are shared with susceptibility loci for atopic dermatitis. Furthermore, filaggrin expression is lowered in psoriatic skin lesions but normally expressed in uninvolved skin. So far five relatively small patient‐based case‐control studies have rejected a possible association between psoriasis and the two most prevalent filaggrin null mutations, 2282del4 and R501X. Objectives To reinvestigate a possible association between psoriasis and filaggrin null mutation status by using cross‐sectional general population questionnaire data. Also, to perform a meta‐analysis including published studies that investigated the relation between filaggrin gene mutations R501X and 2282del4, respectively, and psoriasis vulgaris. Methods Between June 2006 and May 2008, a cross‐sectional study was performed in the general population in Copenhagen. A random sample of 7931 subjects aged 18–69 years was invited to participate in a general health examination including a questionnaire and 3471 (43.7%) participated. A total of 3335 (96.1%) individuals were filaggrin genotyped for the 2282del4 and R501X mutations. A meta‐analysis was undertaken to investigate the relation between filaggrin gene mutations and psoriasis vulgaris. Results The prevalence of self‐reported psoriasis was 6.7% among the 3240 respondents. The prevalence of the R501X and 2282del4 filaggrin null genotypes was 9.3% in subjects who reported psoriasis and 8.0% in subjects who did not report psoriasis (OR = 1.28; 95% CI = 0.74–1.89; P = 0.78). The meta‐analysis found no association between the filaggrin null genotypes R501X and 2282del4 and psoriasis (OR = 1.04; 95% CI = 0.81–1.35). Conclusions Psoriasis was not associated with the R501X and 2282del4 filaggrin null genotypes in a general population study and in a meta‐analysis on published studies.     

Contemporary management of aortic branch compromise resulting from acute aortic dissection

PURPOSE: In an earlier report, we documented the incidence and impact of aortic branch compromise complicating acute aortic dissection (AD) over a 21-year interval (1965-1986). In the current study, management of peripheral vascular complications (PVCs) of AD over the past decade was reviewed. METHODS: Medical records of patients treated for AD over the interval January 1, 1990, to December 31, 1999, were reviewed. Patients with branch compromise confirmed with radiography or operation and patients with spinal cord ischemia that was based on results of a physical examination defined the study group. Comparisons between subgroups with and without PVC over a 30-year interval were analyzed with the chi(2) test. RESULTS: A total of 187 patients (101 proximal and 86 distal) were treated for AD over the study interval. A total of 53 (28%) of these patients had clinical evidence of organ or limb malperfusion (7 cerebral, 3 upper extremity, 5 spinal cord, 11 mesenteric, 12 renal, and 24 lower extremity [sites inclusive]), and one of three (17 patients) of these underwent specific peripheral vascular intervention. The remaining 65% (36) of the PVC group had complete or partial malperfusion resolution after central aortic therapy (medical or surgical) alone. Open techniques for treating PVC included aortic fenestration (9), femorofemoral grafting (2), and aortofemoral grafting (1). All had favorable outcomes with no mortality. Endovascular procedures in five patients included abdominal aortic fenestration (3) or stenting of the renal (2), mesenteric (2), and iliac (1) arteries with clinical success in three patients and two deaths. The in-hospital mortality rate for the entire group of 187 patients was 18% (15% for proximal aortic operation, 8% in medically treated patients). The presence of aortic branch compromise was not a statistically significant predictor of the patient mortality rate (23% with and 16% without; P =.26). Overall mortality rate in the current study (18% vs 37%; P =.000006) and the mortality rate with PVC (23% vs 51%; P =.001), in particular with mesenteric ischemia (36% vs 87%; P =.026), decreased significantly when compared with prior experience. CONCLUSIONS: The overall mortality rate from AD during the past decade has decreased significantly. Similar trends were noted in patients with PVCs, a previously identified high-risk subgroup. Increased awareness and prompt, specific management of PVCs, in particular when visceral ischemia is present, have contributed to improved outcomes in patients with AD.