Search results for "Normal"

Immunobiology of normal and diabetic pregnancy

1990

The International Congress of Immunobiology of Normal and Diabetic Pregnancy brought together a heterogeneous group of workers to consider one of the most fascinating areas of immunology. The meeting, which proved to be a thinkshop as much as a workshop, developed along two major lines: (1) an examination of new data in normal pregnancy immunology, from both the research and clinical points of view and (2) analysis of the suspected problems of diabetic pregnancy. 'Suspected' because pregnancy-related problems in diabetic women are not due solely to metabolic disturbances, but also involve immunological aspects of diabetes, particularly where type I diabetes is concerned.

Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.

2021

KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder, typically characterized by macrodontia of the upper central incisors, distinct craniofacial findings, short stature, and skeletal anomalies associated with neurological involvement including intellectual disability, behaviour difficulties, and epilepsy. KBG syndrome is associated with mutations in ANKRD11 gene that plays a chromatin regulator role of histone acetylation and gene expression during neurogenesis in the embryonic brain.

Bilateral agenesis/aplasia of the lungs: report of a second case in the offspring of one woman.

1995

Congenital absence of both lungs is an extremely rare malformation in humans and is thought to occur sporadically. We report the second case of congenital absence of both lungs in the offspring of one woman. In neither case, one female baby (born at term) and one aborted female fetus (21 weeks of gestation), were anomalies or malformations of other organ systems observed. The karyotype of the aborted fetus was 46,XX. To our knowledge, this is the first report describing bilateral pulmonary agenesis in two offspring of one mother. The repetition of virtually the same isolated abnormality with no other malformations supports the hypothesis that it could be caused by a genetic disorder. Other …

It is time to abandon “Expected bladder capacity.” Systematic review and new models for children's normal maximum voided volumes

2013

Background There is an agreement to use simple formulae (expected bladder capacity and other age based linear formulae) as bladder capacity benchmark. But real normal child's bladder capacity is unknown. Aims To offer a systematic review of children's normal bladder capacity, to measure children's normal maximum voided volumes (MVVs), to construct models of MVVs and to compare them with the usual formulae. Methods Computerized, manual and grey literature were reviewed until February 2013. Epidemiological, observational, transversal, multicenter study. A consecutive sample of healthy children aged 5–14 years, attending Primary Care centres with no urologic abnormality were selected. Particip…

Child with repeated aspiration pneumonia and peculiar face.

1998

Paediatric Sleep Questionnaire for Obstructive Sleep Apnoea Syndrome Screening: Is Sleep Quality Worthy of Note?

2021

Obstructive sleep apnoea syndrome (OSAS) is the most severe condition on the spectrum of sleep-related breathing disorders (SRBDs). The Paediatric Sleep Questionnaire (PSQ) is one of the most used and validated screening tools, but it lacks the comprehensive assessment of some determinants of OSAS, specifically anamnestic assessment and sleep quality. This study aims to assess the accuracy of some specific items added to the original PSQ, particularly related to the patient’s anamnestic history and to the quality of sleep, for the screening of OSAS in a paediatric population living in Sicily (Italy). Fifteen specific items, divided into “anamnestic” and “related to sleep quality” were added…

Early psychosis in Thauvin‐Robinet‐Faivre syndrome, a complication of the disease?

2021

Mental health perspectives of Hunter syndrome: Case reports of two biological siblings

2016

Hunter syndrome is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase, leading to progressive accumulation of a substance called glycosaminoglycans in nearly all cell types, tissues, and organs. Hunter syndrome presents with facial dysmorphism, airway diseases, skeletal defects, cardiomyopathies, and neuropsychiatric manifestations. Mental subnormality is a cardinal feature in Hunter syndrome. This is a progressive cognitive decline that is not amenable to enzyme replacement therapy. Due to progressive cognitive decline, training the children to improve the adaptive functioning is a challenge that creates immense stress for the caregivers.…

Opsoclonus-myoclonus syndrome attributable to West Nile encephalitis: a case report

2014

Introduction Opsoclonus-myoclonus syndrome is a very rare neurological disorder associated with some viral infections and exceptionally with the West Nile virus. Case presentation A 57-year-old Caucasian woman presented with fever, dizziness, balance difficulties, vomiting, dancing eye, altered speech, tremor, generalized myoclonus and failure to rise or stand. Our objective is to describe a patient with West Nile infection, which was identified both in her serum and cerebrospinal fluid and was associated with encephalitis and opsoclonus-myoclonus-ataxia syndrome. Conclusions Opsoclonus-myoclonus-ataxia syndrome continued for 4 weeks after onset, when she died. There was no evidence for any…

Trends in Incidence and Survival of Myeloid Malignancies Since 1980, in the Côte D'or Department, Burgundy, France.

2009

Abstract Abstract 3122 Poster Board III-59 Objective The Registry of Haematological Malignancies (HM) has been established on January 1st, 1980 in the department of Côte d'Or (pop 500 000 inhabitants). It was the first specialized registry in haematology in the world. During the course of 25 years (1980-2004), 5026 cases of HM were recorded including 1553 Myeloid malignancies (MM) in which entities not initially considered as malignant were taken in account such as Myelodysplastic syndrome (MDS) and some Myeloproliferative neoplasms (MPN). This allow us to present trends in incidence and survival of myeloid malignancies by entities since 1980. Method MM diagnosed in the population between …