Search results for "and Child Health"

Letter to the Editor Regarding the Article Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Cand…

2020

Chondrodysplasia punctata — Rhizomelic form

1976

Pathologic, ultrastructural and radiologic studies are described on 3 infants with the rhizomelic form of chondrodysplasia punctata. Radiologic criteria in the young infant include radiolucent coronal clefts dividing all or most of the thoracic and lumbar vertebral bodies, short humeri with flared metaphyses and punctate calcifications commonly present adjacent to the ossified ischial and pubic bones and less commonly in other locations. In late infancy and childhood the radiologic criteria include demineralization in all bones with slow maturation, flat vertebral bodies, short humeri and femora, metaphyseal flaring, especially in the distal humerus, proximal femur and proximal tibia, immat…

Diagnostic morphology of human eye-related storage disorders

1989

While retina and other ocular tissues are involved clinically and morphologically in a variety of lysosomal disorders, it is only the conjunctiva that is accessible by biopsy to morphological, i.e., electron microscopic recognition of the patient's individual lysosomal disease. However, this procedure is not utilized by many. Instead, skin and circulating lymphocytes are the most frequently obtained tissues for diagnostic investigation, as skin contains an abundance of diversified cell types for morphological examination and simultaneously fibroblasts to be cultured for biochemical investigation. It is the tissue most suitable for identifying lysosomal disorders and parallels in diagnostic …

Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children: impact of magnetic resonance findings for decomp…

2001

In order to investigate the diagnostic properties of MRI of the brain and spine in achondroplastic children with regard to decompressive surgery, 25 patients were examined by conventional morphological and by "functional" imaging of CSF flow and magnetic resonance angiography (MRA) of the veins and sinuses at the cranial base following a special protocol. The results were compared to those from age-matched controls and were correlated with each other and retrospectively with the neurological findings. Measurements of distances and angulations at the cranio-cervical junction (CCJ) from MR scans showed similar values to those from conventional radiographs and CTs and thus can be used without …

Lymphocyte apoptosis in children with central nervous system tuberculosis: a case control study

2011

Abstract Background Studies of the apoptosis mechanisms involved in the pathogenesis of tuberculosis have suggested that Mycobacterium tuberculosis can actively interfere with the apoptosis of infected cells. In vivo studies have been performed in adult populations but have not focused on this process in children. In the present study, we analyzed spontaneous T lymphocyte (PBT) apoptosis in the peripheral blood of children with central nervous system tuberculosis (CNS TB), before and after chemotherapy, and compared the results with healthy controls. Methods A case-control study was conducted from January 2002 to June 2009. It included 18 children with CNS TB and 17 healthy controls. Sponta…

Infantile Central Sleep Apnea - Improvement With Acetazolamide

1999

Cerebral venous outflow in the prone position

2020

Chemokine Expression Is Involved in the Vascular Neogenesis of Ewing Sarcoma: A Preliminary Analysis of the Early Stages of Angiogenesis in a Xenogra…

2018

Background Ewing sarcoma (EWS) is the second most common bone cancer in pediatric patients. Angiogenesis is a major factor for tumor growth and metastasis. Our aim was to carry out a histological, immunohistochemical, and molecular characterization of the neovascularization established between xenotransplanted tumors and the host during the initial phases of growth in nude mice in three angiogenesis experiments (ES2, ES3, and ES4). Methods The original human EWS were implanted subcutaneously on the backs of three nude mice. Tumor pieces 3 mm–4 mm in size from early passages of Nu432, Nu495, and Nu471 were also implanted subcutaneously on the backs of three sets (ES2, ES3, and ES4) of athymi…

P.21.2 New insights into eosinophilic fasciitis

2013

Eosinophilic fasciitis (EF), first described by Shulman in 1974, is a rare disease characterized by fibrosis and inflammatory infiltration of the muscle fascia as well as scleroderma-like skin indurations and blood eosinophilia. In contrast to other inflammatory myopathies, patients generally show less muscle weakness and myalgia, and a frequent increase in body weight. Thus, we hypothesize a unique immune mechanism underlying Shulman syndrome. The immunohistochemical expression pattern of leucocytes and a comprehensive panel of cytokine and chemokine expression on RNA level of muscle specimen from EF patients were compared to healthy control muscle. In patients with biopsy-proven EF the im…

Children <1 year show an inferior outcome when treated according to the traditional LGG treatment strategy: A report from the german multicenter t…

2013

Background Children diagnosed with LGG at an age <1 year are reported to have an impaired prognosis in comparison to older patients. Analysis of this subgroup could reveal the necessity to develop risk-adapted treatment approaches. Procedure Children <1 year at diagnosis (n = 66, median age 7.3 months, 33 female, none NFI) from the HIT-LGG 1996 cohort were analyzed for risk factors for EFS, PFS and OS. Several children suffered from diencephalic syndrome (DS, n = 22) and primary dissemination (DLGG, n = 9), 50 had a supratentorial midline (SML) location. Extent of resection was complete/subtotal in 12, partial in 15, biopsy in 27. Tumors were pilocytic astrocytoma WHO grade I (n = 33), othe…