Search results for "abnormal"
showing 10 items of 761 documents
Sporting Activities and Quality of Life in Children With Hemophilia: An Observational Study.
2016
Sports activities are part of multidisciplinary treatments in people with hemophilia. Aim: The objective of this study was to assess the incidence of sports activities in the quality of life as perceived by children with hemophilia. Methods: A total of 53 children with hemophilia aged 7 to 13 years and 51 children without hemophilia were evaluated. The perception of quality of life, clinical variables, and the frequency of sports activities were registered. The joint condition of patients with hemophilia was measured with the Spanish version of the Haemophilia Joint Health Score. Results: There were no significant differences in the perception of quality of life between children with hemoph…
Obstetric and Neonatal Outcome of Pregnancies Fathered by Males on Immunosuppression After Solid Organ Transplantation
2015
Immunosuppressive drugs may influence spermatogenesis, but little is known about outcome of pregnancies fathered by transplanted males. We estimated risk of adverse outcomes in pregnancies (with data after the first trimester) fathered by males that had undergone organ transplantation and were treated with immunosuppression. A population-based study, linking data from the Norwegian transplant registry and the Medical Birth Registry of Norway during 1967-2009 was designed. All Norwegian men undergoing solid organ transplantation were included. Odds ratios for major malformations, preeclampsia, preterm delivery (<37 weeks) and small-for-gestational-age were obtained using logistic regression.…
Uterus Transplantation
2018
Uterus transplantation (UTx) has been successfully introduced as a treatment option for women with absolute uterine factor infertility (AUFI). AUFI representing approximately 3% to 5% of the female general population is linked to either congenital uterine agenesis (Mayer-Rokitansky-Küster-Hauser syndrome), major congenital uterine malformation (hypoplastic uterus, fraction of bicornuate/unicornuate uterus), a surgically absent uterus, or an acquired condition (intrauterine adhesions, leiomyoma) linked to uterine malfunction that causes implantation failure or defect placentation. The world's first clinical uterus transplant was performed in 2000. However, a hysterectomy became necessary sho…
Sperm Telomere Length in Men with Normal and Abnormal semen Parameters. A Pilot Study
2019
Objective: Male infertility is a growing social problem. The measurement of telomere length may be a new marker that can help to assess reproductive age of males and assess the chances of in vitro fertilization. Aim: The aim of our study was to investigate whether there are any differences between telomere length in men with normal and abnormal semen parameters. Materials and Methods: Telomere length was analyzed in 17 patients with normal and 28 patients with abnormal semen parameters using the telomeric repeat amplification protocol and Quantitative Real-Time Polymerase Chain Reaction (qPCR). Results: Mean sperm telomere length in all donors was 49±24kbp per haploid genome. However, patie…
Observatoire francophone des néoplasies endocriniennes multiples de type 1. Un outil du Groupe d'étude des Tumeurs Endocrines (GTE)
2007
Wermer's syndrome or Multiple Endocrine Neoplasia Type-1 (MEN1) is an autosomal dominant inherited disease, related to mutations in MEN1, an approximately 10-kb gene encoding menin, localized on chromosome 11q13. The Endocrine Tumor Group (GTE) has set up a MEN1 observatory of 1001 regularly followed MEN1 cases. This observatory aims at registering and evaluating MEN1 cases in a large cohort. Any new study on a particular unexplored aspect of the disease may be proposed by a physician to the GTE. This article describes the way to diagnose a new MEN1 case and to register it. Procedures for participating in a new study are presented. Some original results are quoted.
Dydrogesterone use during pregnancy: Overview of birth defects reported since 1977
2009
Between 1977 and 2005, 28 cases of potential links between maternal dydrogesterone use during pregnancy and congenital birth defects were reported. The types of defects were very diverse, with no evidence of a pattern of abnormalities. The data do not provide evidence for congenital malformations associated with dydrogesterone use.
Prä- und postnatales Nierenscreening im Vergleich: eine Analyse von 34.450 Neugeborenen des Geburtenregisters Mainzer Modell
2002
Zielsetzung. Fehlbildungen des internen Urogenitalsystems sind haufig und stellen die zweithaufigste Organkategorie dar. Anhand des Mainzer Geburtenregisters werden populationsbezogene Pravalenzen von Nierenfehlbildungen, die Sensitivitat des pranatalen Ultraschalls und die Haufigkeit operationsbedurftiger Befunde ermittelt. Material und Methode. Im Zeitraum von 1990–2001 erhielten alle in Mainz geborenen Kinder neben einer klinischen Untersuchung eine Ultraschalluntersuchung der ableitenden Harnwege. Bei Totgeborenen, Spontanaborten (≥15. SSW) und induzierten Aborten wurden die Befunde der Pathologie in die Erfassung einbezogen. Seit 1996 (nach Einfuhrung des Fehlbildungsschalles in die Mu…
Kraniometrische Merkmale bei unterschiedlichen Anomalien
1972
Die vorangegangenen Ausfuhrungen verfolgten das Ziel, die Frage aufzuhellen, ob fur Anomalien des Kieferbereiches eine weitgehende Unabhangigkeit vom Aufbau des Gesichtsschadels besteht. Zu diesem Zweck wurden je 10 Fernrontgen-Profilaufnahmen von 5 typischen Anomaliegruppen ausgewahlt und im Hinblick auf die Fragestellung ausgewertet. Das mit Hilfe biostatistischer Verfahren gewonnene Ergebnis gibt zu erkennen, das keine der gewahlten Variablen des Gesichtsschadels eine spezifische Zuordnung zu einer bestimmten Anomaliegruppe ermoglichte. Zwischen kraniometrischen Merkmalen und Gebisanomalien bestehen demnach keine engeren Beziehungen.
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.
Clinical Delineation Of A Subtype Of Frontonasal Dysplasia With Creased Nasal Ridge And Upper Limb Anomalies: Report Of Six Unrelated Patients
2017
IF 2.259; International audience; Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin. Facial features were remarkable by nasal deformity with creased ridge and depressed or absent tip, widely spaced eyes, almond-shaped palpebr…