42 results match your criteria: "Childrens's Hospital[Affiliation]"

Article Synopsis
  • Genetic mutations in this region can lead to specific conditions known as maternal or paternal uniparental disomy 14 phenotypes, caused by uniparental disomy, deletions, or epimutations.
  • Recent findings revealed novel deletions of the MEG3-DMR in patients with paternal uniparental disomy 14, indicating that these deletions do not generally alter the methylation of the IG-DMR, supporting a hierarchical relationship between the two control centers.
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Background: Lung-branching morphogenesis is a fundamental developmental process, yet the cellular dynamics that occur during lung development and the molecular mechanisms underlying recent postulated branching modes are poorly understood.

Results: Here, we implemented a time-lapse video microscopy method to study the cellular behavior and molecular mechanisms of planar bifurcation and domain branching in lung explant- and organotypic cultures. Our analysis revealed morphologically distinct stages that are shaped at least in part by a combination of localized and orientated cell divisions and by local mechanical forces.

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Thiamin status of premature infants assessed by measurement of thiamin diphosphate in whole blood.

Br J Nutr

June 2013

Department of Neonatology and Pediatric Intensive Care, Childrens's Hospital, University of Cologne, Kerpener Straße 62, Cologne, D-50924, Germany.

Premature infants constitute a risk group for thiamin deficiency but only little is known about their thiamin status. The aim of the present study was to investigate the thiamin status of premature infants by determination of thiamin diphosphate (TDP) and to identify risk factors for low TDP concentrations. In a prospective, longitudinal study TDP was determined by HPLC in whole blood in the first days of life and approximately every 2 weeks.

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A case of a child with chronic granulomatous disease (CGD) presenting with recurrent mycobacterial infections and invasive Aspergillus fumigatus disease is described. Genetic analysis confirmed X-linked CGD with a novel mutation in exon 10 of the CYBB gene - the first South African report of genetically confirmed CGD.

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Background: High-frequency oscillatory ventilation (HFOV) has been advocated for use to improve lung inflation while potentially decreasing lung injury. There were few data on the early use of HFOV in hypoxemic term neonates.

Aim: To evaluate the effectiveness of HFOV, used as the initial mode of ventilation, in neonates with severe meconium aspiration syndrome (MAS).

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Background: Although child sexual abuse (CSA) is considered to be a significant health risk, there is no systematic overview of studies that have investigated the prevalence of CSA in Switzerland.

Objectives: To conduct a systematic review of studies on the prevalence of CSA in Switzerland.

Methods: A literature search was conducted using several online bibliographic databases.

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Carcinoid tumors of common bile duct (CBD) are rare, with fewer than 60 cases reported worldwide. Typically, jaundice is the most common presenting symptom. Preoperative diagnosis is difficult because methods for obtaining adequate specimens for histologic analysis are limited.

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Unlabelled: Following diagnosis of acute lymphoblastic leukaemia (ALL) in a 10-year-old girl, routine coagulation screening including von Willebrand factor antigen (VWF:Ag), ristocetin cofactor activity (VWF:RCo) and factor VIIIC (FVIII:C) detected no pathological findings. After the first HR2' element of the high-risk group of the ALL-BFM 2000 protocol, the patient demonstrated extensive bleeding symptoms and acquired von Willebrand syndrome was diagnosed. VWF:Ag (13%), VWF:RCo (13%) and FVIII:C (27%) were decreased.

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Objective: A majority of the recognized risk factors for atherosclerosis and the development of cardiovascular disease have been derived from the study of older populations who have already manifested clinical symptoms. If risk factors can be identified earlier in life, such as genetic variation, preventive measures may be taken before overt symptoms of pathology have manifested, and when treatments may be most effective.

Methods And Results: In an effort to identify individuals at increased risk for cardiovascular disease, we genotyped 732 members of the Muscatine Study Longitudinal Adult Cohort for candidate genetic markers associated with several pathogenetic processes.

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Intracranial aneurysms in a child with autosomal recessive polycystic kidney disease.

Pediatr Nephrol

December 2001

Clinic of Pediatric Nephrology, University Childrens's Hospital, ul. Ianko Zabunov bl 40, 1408 Sofia, Bulgaria.

Intracranial aneurysms (ICA) are a well-known feature of autosomal dominant polycystic kidney disease. There is only one report about ICA in an adult patient with autosomal recessive polycystic kidney disease (ARPKD). We observed a 2-year, 6-month old girl with ARPKD and multiple ICA.

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Cystic kidneys associated with connective tissue disorders.

Am J Med Genet

March 1997

Department of Pediatrics, The Childrens's Hospital of Philadelphia, University of Pennsylvania, Philadelphia 19104, USA.

Advances in molecular genetics have resulted in the identification of several forms of autosomal dominant polycystic kidney disease (PKD). Cystic kidneys have also been observed in tuberous sclerosis, von Hippel-Lindau syndrome, oro-facial-digital type I syndrome, Hajdu-Cheney syndrome, Ehlers-Danlos syndrome, and an "overlap" connective tissue disorder, and cannot be distinguished by ultrasonography from PKD. We have studied four children with similar cystic kidneys.

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Helper virus-free transfer of herpes simplex virus type 1 plasmid vectors into neural cells.

J Virol

October 1996

Division of Endocrinology, Childrens's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.

Herpes simplex virus type 1 (HSV-1) plasmid vectors have promise for genetic intervention in the brain, but several problems caused by the helper virus have compromised their utility. To develop a helper virus-free packaging system for these vectors, the DNA cleavage/packaging signals were deleted from a set of cosmids that represents the HSV-1 genome. Following cotransfection into cells, this modified cosmid set supported replication and packaging of vector DNA.

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