Search results for " perinatology and child health"

Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syn…

2007

The Usher syndrome (USH) is an autosomal recessive hereditary disorder characterized by the association of sensorineural hearing loss, retinitis pigmentosa (RP) and, in some cases, vestibular dysfunction. The USH1G gene, encoding SANS, has been found to cause both Usher syndrome type I and atypical Usher syndrome. 109 Spanish unrelated patients suffering from Usher syndrome type I, type II, type III and unclassified Usher syndrome were screened for mutations in this gene, but only eight different changes without a clear pathogenic effect have been detected. Based on these results as well as previous studies in other populations where mutational analysis of this gene has been carried out, on…

Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology

1976

A study of 11 autopsied cases of the cerebro-hepato-renal syndrome of Zellweger (ZS) is reported. All cases had severe, persistent congenital hypotonia, hepatic lobular disarray, renal cortical cysts and pulmonary hypoplasia. Many had cardiovascular malformations, hepatomegaly, cerebral cortical gyral maldevelopment and pancreatic islet hyperplasia. Additional, less frequent findings are delineated. Results of iron content studies of hepatic and renal tissues are related to age of survival and possible development of fibrosis.

Motor development of infants with univentricular heart at the ages of 16 and 52 weeks

2013

Purpose To compare the motor development of patients with hypoplastic left heart syndrome (HLHS) and other types of univentricular heart (UVH) with peers who are healthy at the ages of 16 and 52 weeks. Methods Motor development was assessed with the Alberta Infant Motor Scale (AIMS). Results Both the 23 patients with HLHS and the 13 patients with UVH had lower total AIMS scores in both observations than the controls. At the age of 52 weeks, patients with HLHS had significantly lower scores in all 4 AIMS subscales, whereas patients with UVH had lower scores only in the prone and standing subscales. Conclusion Motor development of patients with HLHS or UVH is delayed during the first year of …

A population-based study relevant to seasonal variations in causes of death in children undergoing surgery for congenital cardiac malformations

2007

AbstractAimsOur objectives were, first, to study seasonal distribution of perioperative deaths within 30 days after surgery, and late death, in children undergoing surgery for congenitally malformed hearts, and second, to study the causes of late death.MethodsWe analysed a retrospective cohort of 1,753 children with congenital cardiac malformations born and undergoing surgery in the period from 1990 through 2002 with a special focus on the causes of late death. The data was obtained from the registry of congenital cardiac malformations at Rikshospitalet, Oslo, and the Norwegian Medical Birth Registry. The mean follow-up from birth was 8.1 years, with a range from zero to 15.2 years.ResultsD…

Natural and modified history of isolated ventricular septal defect: A 17-year study

1992

We studied 882 cases of isolated ventricular septal defect (VSD) diagnosed from 1971 to 1988 with a mean follow-up period of 9.5 years. They represent 22.5% of all congenital heart defects diagnosed in this period. Six hundred eighty-three children (77.4%) did not develop symptoms, had small defects, and the rate of spontaneous closure was high (40.2%). The remaining 199 children presented symptoms; at the initial catheterization 25, 65, 107, and 2 cases were grouped in hemodynamic groups 2, 3, 4, and 5-6, respectively, on the basis of pulmonary flow and resistance. Only seven patients (0.7%) developed aortic regurgitation, and only five patients (0.5%) developed infective endocarditis. Com…

Colour-flow-mapping in patients with ventricular septal defect.

1991

Urticaria in children and adolescents: An updated review of the pathogenesis and management

2018

The present survey represents the latest data on diagnosis and management of childhood urticaria. It has been observed that urticaria occurs less often in children than adults, with symptoms rarely lasting for over 6 weeks. Triggers or aggravating factors can be found only in 21%-55% of cases. Finding autoantibodies in children does not impact a disease prognosis, unlike in adult patients, where the presence of autoantibodies is associated with a more prolonged run of the disease, a more severe prognosis and more intensive treatment methods. The incidence of food allergy equals to 8%-10% of cases. The incidence of Helicobacter Pylori infection in children is lower than that in adults and co…

CK-BB as indicator of prenatal brain-cell injury in fetuses with absent or reverse end-diastolic flow velocities of the umbilical arteries

1994

The purpose of this study is to determine the levels of brain type isoenzyme of creatine kinase (CK-BB) as a possible indicator of a pre-existing intrauterine brain-cell damage in cord blood sera of fetuses with preceding absent or reverse end-diastolic flow velocities of the umbilical arteries (AREDFV). CK-BB isoenzyme activities were determined in umbilical cord sera of 13 newborn infants with preceding AREDFV and in 14 fetuses with low end-diastolic flow velocities (LEDFV) of the umbilical arteries. 50 newborn infants with elective cesarean section and normal umbilical artery blood flow velocity waveforms were used as controls. Two-tailed Student's t-test and Fischer's exact test were us…

Rasburicase-induced Methemoglobinemia: A Case Report and Literature Review.

2020

Rasburicase is a recombinant urate oxidase enzyme indicated for tumor lysis syndrome, a potential life-threatening oncologic emergency that occurs most commonly during initial chemotherapy for hematological malignancies. As a result of the defects in the physiological antioxidant pathway, erythrocytes of patients with glucose-6-phosphate dehydrogenase deficiency are not protected against the oxidizing stress exerted by hydrogen peroxide generated with the administration of rasburicase. The authors report a 14-year-old patient, diagnosed with T-cell acute lymphoblastic leukemia, who developed methemoglobinemia and hemolytic anemia with low oxygen saturation after starting steroids, hyperhydr…

Molecular hybridization techniques in current diagnosis of chronic hepatitis B in childhood.

1992

Following the cloning and sequencing of the hepatitis B virus genome, molecular hybridization techniques have been established to detect hepatitis B virus (HBV) DNA in serum and liver tissue. Analyses can be performed by dot blot, Southern blot and in situ hybridization. HBV DNA is regarded to be the most sensitive marker of viral replication and infectivity which was previously related to the presence of hepatitis B e antigen in serum and hepatitis B core antigen in liver cells. In liver tissue different molecular patterns can be recognized as free viral DNA and integrated sequences. Furthermore, introduction of the polymerase chain reaction allows the detection of very small amounts of vi…