Search results for "abnormal"
showing 10 items of 761 documents
De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome
2010
International audience; Interstitial deletions involving the 15q21.1 band are very rare. Only 4 of these cases have been studied using molecular cytogenetic techniques in order to confirm the deletion of the whole FBN1 gene. The presence of clinical features of the Marfan syndrome (MFS) spectrum associated with mental retardation has been described in only 2/4 patients. Here we report on a 16-year-old female referred for suspicion of MFS (positive thumb and wrist sign, scoliosis, joint hyperlaxity, high-arched palate with dental crowding, dysmorphism, mitral insufficiency with dystrophic valve, striae). She had therefore 3 minor criteria according to the Ghent nosology. She also had speech …
Corpus callosum area in patients with bipolar disorder with and without psychotic features: an international multicentre study
2015
Background Previous studies have reported MRI abnormalities of the corpus callosum (CC) in patients with bipolar disorder (BD), although only a few studies have directly compared callosal areas in psychotic versus nonpsychotic patients with this disorder. We sought to compare regional callosal areas in a large international multicentre sample of patients with BD and healthy controls. Methods We analyzed anatomic T-1 MRI data of patients with BD-I and healthy controls recruited from 4 sites (France, Germany, Ireland and the United States). We obtained the mid-sagittal areas of 7 CC subregions using an automatic CC delineation. Differences in regional callosal areas between patients and contr…
Smoking Habits, Nicotine Use, and Congenital Malformations
2006
OBJECTIVE: We examined whether maternal smoking and use of nicotine substitutes during the first 12 weeks of pregnancy increased the prevalence of congenital malformations in general and of certain congenital malformations in particular. METHODS: In the Danish National Birth Cohort (1997– 2003) we identified 76,768 pregnancies (and their subsequent singleton births); 20,603 were exposed to tobacco smoking during the first 12 weeks of pregnancy. Birth outcomes were collected by linkage to the Central Population Register, the National Patients Register, and the National Birth Register. We identified congenital malformations from the Hospital Medical Birth Registry as they were recorded at bir…
A Novel Loss-of-Function Mutation (N48K) in the PTEN Gene in a Spanish Patient with Cowden Disease
2003
Cowden disease, also known as multiple hamartoma syndrome, is a rare disease inherited in an autosomal dominant pattern, which confers a high risk of developing breast and thyroid carcinomas. Mutations in PTEN, a tumor suppressor gene located on chromosome 10q23, have been identified in patients with Cowden disease. In this work, the direct sequencing of all coding regions of the PTEN gene led us to the identification of N48K, a new germline PTEN missense mutation, in a patient suffering from Cowden disease. The genetic analysis of 200 chromosomes from healthy individuals revealed that the variant was not common in our population. Moreover, by functional analysis we found that the ability o…
Congenital hypertrophy of the retinal pigment epithelium and familial polyposis of the colon.
1987
Inquiries to Manuel Diaz Llopis, M.D., Cl Cirilo Amoros No. 1 PTA 2, Valencia 46004, Spain. Familial polyposis of the colon is a dominant autosomal disorder that is characterized by hundreds and sometimes thousands of adenomatous polyps throughout the entire colon, which begin in adolescence. Virtually all pa tients with familial polyposis develop carcino ma of the colon by age 50 years. A total colectomy should be carried out early in adult life in affected persons. Because of the autosomal dominant inheritance pattern, an intensive sur vey of family members must be conducted. There is no phenotype biochemical abnormality or serologic marker that indicates whether a familial member will…
Risk of infection and adverse outcomes among pregnant working women in selected occupational groups: A study in the Danish National Birth Cohort
2010
Abstract Background Exposure to infectious pathogens is a frequent occupational hazard for women who work with patients, children, animals or animal products. The purpose of the present study is to investigate if women working in occupations where exposure to infections agents is common have a high risk of infections and adverse pregnancy outcomes. Methods We used data from the Danish National Birth Cohort, a population-based cohort study and studied the risk of Infection and adverse outcomes in pregnant women working with patients, with children, with food products or with animals. The regression analysis were adjusted for the following covariates: maternal age, parity, history of miscarri…
Interferon-beta exposure during first trimester is safe in women with multiple sclerosis-A prospective cohort study from the German Multiple Sclerosi…
2015
Background: Available data suggest that pregnancy exposure to interferon-beta might result in lower mean birth weight and preterm birth. Objective: To determine the effect of interferon-beta exposure during pregnancy on pregnancy outcomes in multiple sclerosis patients. Methods: We compared the pregnancy outcomes of women exposed to interferon-beta with pregnancies unexposed to disease-modifying therapies. Women were enrolled into the German Multiple Sclerosis and Pregnancy Registry. A standardized questionnaire was administered during pregnancy and postpartum. Detailed information on course of multiple sclerosis and pregnancy, concomitant medications, delivery, and outcome of pregnancy was…
X-inactivation pattern in three cases of X/autosome translocation.
1978
We describe an X/15 translocation which was balanced in a phenotypically normal mother [46,X,t(X;15)(p22;q15)] and unbalanced in her phenotypically abnormal daughter [46,X,der(X),t(X;15)(p22;q15)mat]. A third case involves a balanced X/21 translocation in a girl with a multiple congenital anomaly-retardation syndrome [46,X,t(X;21)(p11;p11?)]. 5-BrdU acridine orange banding on lymphocytes revealed late replication of the normal X chromosome in the mother and of the normal or abnormal X chromosome in the two other cases. Our findings are only partially consistent with previous observations. All X-inactivation patterns can be explained by random inactivation and subsequent selection against sp…
Tuberous sclerosis complex with oral manifestations: A case report and literature review
2011
Introduction: Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome produced by a number of genetic mutations. The disease is characterized by the development of benign tumors affecting different body systems. The most common oral manifestations of TSC are fibromas, gingival hyperplasia and enamel hypoplasia. Clinical Case: A 35-year-old woman diagnosed with TSC presented with a reactive fibroma of considerable size and rapid growth in the region of the right lower third molar. Discussion: In the present case the association of TSC with dental malpositioning gave rise to a rapidly evolving reactive fibroma of considerable diameter. Few similar cases can be found in the literature. P…
Congenital hepatic mesenchymal hamartoma associated with mesenchymal stem villous hyperplasia of the placenta: case report.
2005
A newborn with an unusual association of hepatic mesenchymal hamartoma and mesenchymal stem villous hyperplasia of the placenta is presented. At birth, the large hepatic mass caused severe respiratory distress necessitating early surgical intervention. This report on the association of hepatic mesenchymal hamartoma and mesenchymal stem villous hyperplasia of the placenta strongly suggests a common pathogenetic origin of the 2 lesions.