Search results for "delay"
showing 10 items of 814 documents
Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case
2014
Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations. Also, microdeletions encompassing HNF1B were identified as a cause of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH, OMIM 277000) in females and, recently, were associated with intellectual disability, autistic features, cerebral anomaly and facial dysmorphisms. In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual disability (ID), serious speech delay…
“Relaparoscopic” management of surgical complications: The experience of an Emergency Center
2015
Background/aim: Laparotomy has been the approach of choice for re-operations in patients with surgical complications. The aim of this retrospective analysis was to evaluate the feasibility and the safety of laparoscopic approach for the management of general abdominal surgery complications. Materials and methods: We report a retrospective review of 75 patients who underwent laparoscopic evaluation for postoperative complications over a 4-year period. Primary outcomes (resolution rate by exclusive laparoscopic approach, conversion rate, further surgery rate) and secondary outcomes (mortality, hospitalization, prolonged ileus, wounds problems and median operative time) were evaluated. Results…
Encapsulating peritoneal sclerosis: do not be too late for the right diagnosis! Case report and short literature review
2020
Encapsulating peritoneal sclerosis (EPS) is a rare clinical syndrome characterized by an acquired, inflammatory fibrocollagenous membrane encasing the small intestine, resulting in symptoms of bowel obstruction. It is still unclear whether early surgical intervention has an advantage over conservative management, but, in most reviewed case reports, it is preferred to preserve the surgical management in patients not responding to conservative measures, or when bowel ischaemia is occurring. We report a case of a 58-year old patients, affected by chronic renal failure, on treatment with peritoneal dialysis, in which a late diagnosis of encapsulating peritoneal sclerosis was made, and where sur…
Tobacco smoke and risk of childhood acute non-lymphocytic leukemia: findings from the SETIL study.
2014
Background Parental smoking and exposure of the mother or the child to environmental tobacco smoke (ETS) as risk factors for Acute non-Lymphocytic Leukemia (AnLL) were investigated. Methods Incident cases of childhood AnLL were enrolled in 14 Italian Regions during 1998–2001. We estimated odds ratios (OR) and 95% confidence intervals (95%CI) conducting logistic regression models including 82 cases of AnLL and 1,044 controls. Inverse probability weighting was applied adjusting for: age; sex; provenience; birth order; birth weight; breastfeeding; parental educational level age, birth year, and occupational exposure to benzene. Results Paternal smoke in the conception period was associated wit…
Development of mouse testis and epididymis following intrauterine exposure to a static magnetic field
1999
In order to test if the in utero exposure to static magnetic fields affects testis and epididymis development in mice, females were exposed to 0.5–0.7 T, generated by a permanent magnet, from day 7 of gestation to the day of birth. No significant differences were found between exposed and sham-exposed animals with respect to body weight gain of dam during the gestational period, litter size, body weight of male pups at the day of birth, and body or testis-epididymis weight gain of pups from birth to day 35. Histopathologic evaluation of testis and epididymis of pups of 1, 5, 15, and 35 days of age showed no detectable alterations due to in utero exposure to static magnetic fields. Bioelectr…
Two distinct pathways for Developmental Coordination Disorder: Persistence and resolution
2003
This article describes the perceptual motor, educational and social outcome of early motor delay in a group of 17-18 year old Finnish adolescents who were originally evaluated at age 5. The study group consisted of 65 adolescents: 22 with significant motor problems (or developmental coordination disorder, DCD), 23 with minor motor problems (intermediate group) and 20 controls. The goal of this study was to reassess the results obtained when they were age 15 and to determine whether the variables used earlier could still discriminate the adolescents at age 17. The results showed that at age 17 all perceptual motor tasks differentiated the three groups. The DCD group performed less well than …
Prenatal exposure to phthalates and its effects upon cognitive and motor functions : a systematic review
2021
Este artículo se encuentra disponible en la página web de la revista en la siguiente URL: https://www.sciencedirect.com/science/article/pii/S0300483X21003024?via%3Dihub Phthalates are chemicals widely used in packaging and consumer products, which have been shown to interfere with normal hormonal function and development in some human and animal studies. In recent decades, pregnant women’s exposure to phthalates has been shown to alter the cognitive outcomes of their babies, and some studies have found delays in motor development. Methods: electronic databases including PubMed/MEDLINE and Scopus were searched from their inception to March 2021, using the keywords "phthalate", "cognitive" an…
An international case-control study of maternal diet during pregnancy and childhood brain tumor risk: a histology-specific analysis by food group.
2009
Maternal dietary data from an international collaborative case-control study on childhood brain tumors were used to evaluate associations between histology-specific risk and consumption of specific food groups during pregnancy.Nine study centers from seven countries contributed 1218 cases and 2223 controls. Most cases were diagnosed between 1982 and 1992 and ranged in age from 0 to 19 years. Dietary consumption was measured as average grams per day.Foods generally associated with increased risk were cured meats, eggs/dairy, and oil products; foods generally associated with decreased risk were yellow-orange vegetables, fresh fish, and grains. The cured meat association was specific to astroc…
Prenatal exposure to the CB1 receptor agonist WIN 55,212-2 causes learning disruption associated with impaired cortical NMDA receptor function and em…
2005
The aim of this study was to investigate whether prenatal exposure to the cannabinoid CB1 receptor agonist WIN 55,212-2 (WIN) at a daily dose devoid of overt signs of toxicity and/or gross malformations (0.5 mg/kg, gestation days 5-20), influences cortical glutamatergic neurotransmission, learning and emotional reactivity in rat offspring. Basal and K+-evoked extracellular glutamate levels were significantly lower in cortical cell cultures obtained from pups exposed to WIN during gestation with respect to those measured in cultures obtained from neonates born from vehicle-treated dams. The addition of NMDA to cortical cell cultures from neonates born from vehicle-treated dams concentration-…
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
2020
International audience; PURPOSE: Lamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fate and differentiation in neurogenesis and other discrete developmental processes. The genetic alterations described so far are mainly microdeletions. The present study was aimed at increasing our understanding of LAMSHF, its clinical and genetic spectrum, and the pathophysiological mechanisms involved.METHODS: Clinical and genetic data were collected through GeneMatcher and clinical or genetic networks for 41 novel patients harboring various ty…