Search results for "Infant"

Congenital goitrous primary hypothyroidism in two German families caused by novel thyroid peroxidase (TPO) gene mutations.

2013

Congenital hypothyroidism occurs with a prevalence of approximately 1:3 500. Defects in thyroid hormone synthesis which lead to goitrous hypothyroidism account for 10-15% of these cases. Several genetic defects have been characterized and mutations in the thyroid peroxidase (TPO) gene are the most common cause for dyshormonogenesis.So far, more than 80 mutations in the TPO gene have been described, resulting in a variable decrease in TPO bioactivity. Clinically TPO defects manifest with congenital primary goitrous hypothyroidism.We here present 2 children with congenital primary hypothyroidism, who were identified to have compound heterozygous TPO mutations. They both shared the same novel …

Ten novel mutations found in Aniridia.

1998

Aniridia (AN) is a sight-threatening congenital ocular disorder characterized by iris hypoplasia, corneal pannus, foveal and optic nerve hypoplasia, cataract formation, and glaucoma. In two-thirds of the patients, AN is inherited in an autosomal dominant fashion with almost complete penetrance but variable expression. The remaining cases are sporadic. Aniridia has been shown to be associated with mutations in the PAX6 gene, located on chromosome 11p13, telomeric to the Wilms' tumor predisposition gene (WT1). This paper describes 14 mutations in the PAX6 gene in patients with AN. Among these 14 mutations, 10 have been unpublished until now. They result most probably in haploinsufficiency and…

God, Faith, and Death: The Impact of Biological and Religious Correlates on Mortality

2004

Marked denominational mortality differentials have been documented for various time periods and geographic locations. From a historical perspective, death rates among Catholics are often found to be higher than those among Protestants or Jews. Using a conceptual model based on the life history approach, biomedical and sociocultural factors of causation are extrapolated. In total, 5513 historical entries from family reconstitution were available. Selection of data was guided by the inclusion of information about religious affiliation. Only married couples with children as well as single mothers were considered. Of these, 1855 entries were of Roman Catholic (C), 1143 of Lutheran/Protestant (L…

Patients with soft tissue sarcoma comprise a higher probability of comorbidities than cancer-free individuals. A secondary data analysis.

2016

Soft tissue sarcoma comprises a heterogeneous group of solid malignant tumours. Comorbidities are important prognostic factors for survival and adversely impact quality of life. We examined the complex relationship between soft tissue sarcoma and comorbidities over time in a large population-based sample. The study uses routine data from the German statutory healthcare system (n = 2,615,865). Case identification of soft tissue sarcoma and comorbid diseases was based on ICD-10 codes and diagnostic modifiers. Uni- and multivariate regression models were used to obtain risk estimates for chronic somatic and mental comorbidities in soft tissue sarcoma patients compared to a cancer-free control …

EPIDEMIOLOGICAL SURVEILLANCE OF VISCERAL LEISHMANIASIS IN SICILY, ITALY

1997

Abstract Visceral leishmaniasis (VL) is endemic in Sicily. Although it is a notifiable disease, there is evidence that the actual number of cases is higher than that reported. In 1987, a regional reference center for active surveillance of VL was established and it recorded a total of 284 cases through 1995, a mean of 31.5 cases/year and about four-fold more than previously reported. Of the 284 cases, 150 (53%) were children (≤ 14 years of age), and of the 134 adults, 39 (29%) were coinfected with human immunodeficiency virus (HIV). The commonest viscerotropic zymodeme of Leishmania infantum, MON 1, was identified in 40 (93%) of 43 HIV-negative and eight (57%) of 14 HIV-positive patients. A…

Use of Interferon-Alpha in Recurrent Respiratory Papillomatosis: 20-Year Follow-up

2005

Objectives: The aim of this study was analysis of the results of use of interferon-α (IFN-α) in patients with recurrent respiratory papillomatosis (RRP) and correlation of the results with human papillomavirus (HPV) type. Methods: A multicenter prospective series (42 patients from 22 hospitals) yielded 20 years of follow-up of patients with RRP and HPV typing who were treated with IFN-α in doses of 3 MU/m2 3 times per week. Results: During long-term follow-up (mean ± SD, 172 ± 36.8 months), the rate of event-free survival evaluated by Kaplan-Meier analysis was 42.8%, and the overall survival rate was 82.6%. The HPV typing revealed an association of HPV 11 with a more aggressive disease cour…

Birthweight and its association with retinal vessel equivalents – Results from the population‐based German Gutenberg Health Study

2020

Vascular patterns in cutaneous leishmaniasis: A videodermatoscopic study

2015

CONVERSION FROM COLONIC OR ILEAL CONDUIT TO CONTINENT CUTANEOUS URINARY DIVERSION

2004

ABSTRACT Purpose: After ileal or colonic conduit diversion some patients, particularly adolescents, desire conversion to a continent diversion to improve quality of life. We report our long-term results on conversion from conduit diversion to continent cutaneous diversion. Materials and Methods: Between 1986 and 2001, 39 patients (mean age 24 years, range 6 to 49) underwent conversion from a colonic (21) or ileal conduit (18) to an ileocecal pouch (Mainz pouch I) with a mean followup of 102 months (range 18 to 192). Conversion was performed after a mean of 11 years (range 1 to 36) of conduit urinary diversion by incorporating the preexisting colonic/ ileal conduit and the ileocecal pouch. R…

Evaluation of the Possible Impact of a Care Network for Stroke and Transient Ischemic Attack on Rates of Recurrence

2010

We aimed to demonstrate that a stroke network is able to reduce the proportion of recurrent cerebrovascular events. In 2003, we set up a care network with the aim to reduce the proportion of stroke recurrence. For the statistical analysis, recurrent cerebrovascular events observed from 1985 to 2002 within the population of Dijon made it possible to model trends using Poisson logistic regression. From 1985 to 2002, we recorded 172 recurrent cerebrovascular events which were used to model trends before the creation of the care network. Within the period 2003–2007, we observed 162 recurrent cerebrovascular events compared with 196.7 expected cerebrovascular events with a significant standardiz…