Search results for "perinatology"

Griscelli-Syndrom: ein Fallbericht

2003

Background: Griscelli syndrome is a rare disorder with poor prognosis. It is characterized by silver-grey hair or strands of silver-grey hair in childhood, and variable cellular immunodeficiency. The course of the untreated disease is fatal. Recurrent episodes of fever and lymphohistocytic infiltration of organs lead to hepatosplenomegaly, lymphadenopathy, pancytopenia, and progressive neurological impairment. Prognosis on morbidity and lethality depends on an early diagnosis. Patient: The girl we report on suffers from Griscelli syndrome. She developed normally and only her grey strands of hair, grey eyebrows, and eyelids were conspicuous. With the age of 4 years she presented with a first…

Concentración plasmática de homocisteína: relación con los niveles plasmáticos de ácido fólico y con el polimorfismo 677C → T de la 5,10-metilenotetr…

2002

Antecedentes: El aumento moderado de la homocisteína plasmática en niños se ha relacionado con infartos cerebrales y trombosis venosas y con los antecedentes familiares de enfermedad coronaria prematura (ECP). La determinación de homocisteína en la infancia y el estudio de los factores que determinan su concentración podría ser importante para la prevención primaria de la ECP. Objetivo: Detectar algún caso de hiperhomocistinemia y valorar su relación con la concentración plasmática de ácido fólico y el polimorfismo 677C → T de la 5,10-metilenotetrahidrofolato reductasa (MTHFR). Métodos: Se ha estudiado mediante la regresión lineal múltiple la relación entre la concentración plasmática de ho…

Monitoring neonatal fungal infection with metabolomics

2014

Abstract The objective of our study was to evaluate the capability of the metabolomics approach to identify the variations of urine metabolites over time related to the neonatal fungal septic condition. The study population included a clinical case of a preterm neonate with invasive fungal infection and 13 healthy preterm controls. This study showed a unique urine metabolic profile of the patient affected by fungal sepsis compared to urine of controls and it was also possible to evaluate the efficacy of therapy in improving patient health.

Reversible MRI abnormalities in an unusual paediatric presentation of Wernicke's encephalopathy

1999

Background. We report an unusual paediatric presentation of acute Wernicke's encephalopathy in a 12-year-old boy affected by chronic gastrointestinal disease. MRI demonstrated, in addition to the typical diencephalic and mesencephalic signal abnormalities on T2-weighted images, enhancement of the mammillary bodies and the floor of the hypothalamus. Materials and methods. Following parenteral administration of thiamine for 4 days, the patient recovered from his neurological deficits and on follow-up enhanced MRI 1 month later, no signal abnormalities were found nor was there diencephalic or mesencephalic atrophy, as is usual in the chronic phase of the disease. Results. MRI provides crucial …

1599 Peri- and Postoperative Complications of 215 Cases of Inguinal Hernia in Children

2012

Background The cure of inguinal hernia in children consists of high ligation of hernial sac, generally evolving with few complications. Aim The evaluation of casuistry structure and evaluation of peri- and postoperative complications in children. Method Retrospective analytical study for a period of three years includes case studies which required high ligation of the hernia sac (procesus vaginalis). Results The 214 cases were stratified according to: Location: left side 29 hernias (13.5%); bilateral 4 (1.8%); right side 181 (84.5%) cases; Age: 1–3 years, 70 (32.7%); 4–6 years, 71 (33.1%); 7–12 years, 62 (28.9%); 13–18 years, 11 cases (5.1%); During hospitalization: ≤ 3 days, 65 (30.3%); 4–…

Pleomorphic anaplastic neuroblastoma

2000

Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy

2002

Nemaline myopathy is a clinically and genetically heterogeneous muscle disorder. In the nebulin gene we have detected a number of autosomal recessive mutations. Both autosomal dominant and recessive mutations have been detected in the genes for alpha -actin and alpha -tropomyosin 3. A recessive mutation causing nemaline myopathy among the Old Order Amish has recently been identified in the gene for slow skeletal muscle troponin T. As linkage studies had shown that at least one further gene exists for nemaline myopathy, we investigated another tropomyosin gene expressed in skeletal muscle, the beta -tropomyosin 2 gene. Screening 66 unrelated patients, using single strand conformation polymor…

Detection of Hepatitis B Virus DNA in the Liver of Children with Chronic Hepatitis B by In Situ Hybridization and Its Relation to Other Viral Markers

1992

The aim of the study was to detect hepatitis B virus (HBV) DNA by in situ hybridization (ISH) with a 35S-labeled radioactive probe in frozen liver biopsy tissue sections of 63 hepatitis B virus surface antigen (HBsAg)-positive children. The results were compared to other markers of viral replication. HBV DNA was detected in 48 children. Of the 15 negative cases, four had hepatitis B envelope antigen (HBeAg), 10 anti-HBe, and one neither HBeAg nor anti-HBe. Free HBV DNA in serum and liver was positive in one patient. Forty of the positive children were HBeAg- and six anti-HBe-positive; two were negative for both. Of 45 36 had HBV DNA in serum. In 38 of 47 HBV DNA and in 31 of 42 HBcAg could …

Analysis of biological prognostic factors using tissue microarrays in neuroblastic tumors

2009

Background Neuroblastic tumors (NT) are pediatric neoplasms with a heterogeneous genetic profile. They present genotypic alterations of prognostic value, the study of which is mandatory in designing therapeutic management. Tissue microarrays (TMA) from paraffin material allow the analysis of a large number of cases with minimal costs. The main purpose of the present study is to analyze specific genetic markers of neuroblastic tumors included in TMAs and determine their prognostic value. We compare the results obtained by different molecular techniques at different substrates to evaluate the feasibility of these assays. Procedure One hundred thirty-nine samples were included in four differen…

Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region

2014

Background: Classic bladder exstrophy (CBE) is the most common form of the bladder exstrophy and epispadias complex. Previously, we and others have identified four patients with a duplication of 22q11.21 among a total of 96 unrelated CBE patients. Methods: Here, we investigated whether this chromosomal aberration was commonly associated with CBE/bladder exstrophy and epispadias complex in an extended case-control sample. Multiplex ligation-dependent probe amplification and microarray-based analysis were used to identify 22q11.21 duplications in 244 unrelated bladder exstrophy and epispadias complex patients (including 217 CBE patients) and 665 healthy controls. Results: New duplications of …