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Results for “DEFECTS, CONGENITAL”

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At least 325 records · Page 18Linked to original sources
PubMed1993

Antiepileptic drug therapy and congenital defects.

The present paper is a literature review on congenital malformations observed in the offspring of epileptic mothers. The conditions which are here considered are both morphologic and functional defects. To prevent one or more of these defects it is essential to understand the precise etiologic role of the antiepileptic drugs, which seem to be of primary importance, and their mechanism of action, as drug therapy cannot be stopped during pregnancy being indispensable for the well-being of the mother and fetus. At this state of knowledge a proportion of defects can be prevented if optimal therapy is followed right from the preconceptional period: to this end, a set of guidelines is suggested and discussed.

Abnormalities, Drug-Induced↗
PubMed1999

Transnasal endoscopic repair of congenital defects of the skull base in children.

OBJECTIVE: To examine imaging findings and methods of endoscopic treatment of congenital skull base defects in children. DESIGN: Retrospective study and case series. SETTING: Academic tertiary care center. PATIENTS: Four patients (aged 12 and 14 months and 8 and 13 years) were included from 1995 to 1997. Three presented with a nasal glioma, which was recurrent in 1 case. The fourth patient presented with bacterial meningitis due to a spontaneous cerebrospinal fluid leak. Computed tomography and magnetic resonance imaging were used to locate the defect of the skull base. INTERVENTION: Transnasal endoscopic resection of the glioma or the meningocele, with immediate repair of the skull base defects using free mucosal flaps and/or pediculized mucosal flaps and/or conchal cartilage together with fibrin glue and nasal packing during a 3-week period. RESULTS: None of the 4 patients has experienced recurrent cerebrospinal fluid leaks or postoperative meningitis. CONCLUSIONS: The transnasal endoscopic repair of congenital meningoceles is a reliable technique in select pediatric patients. Computed tomography and magnetic resonance imaging provide information that can be used to help the surgical procedure.

Adolescent↗
PubMed1992

Identification of a new congenital defect of platelet function characterized by severe impairment of platelet responses to adenosine diphosphate.

This study characterizes a congenital hemorrhagic disorder caused by a platelet function defect with the following features: (1) severely impaired platelet aggregation and fibrinogen or von Willebrand factor (vWF) binding induced by adenosine diphosphate (ADP); (2) defective aggregation, release reaction, and fibrinogen or vWF binding induced by other agonists; (3) normal aggregation and release reaction induced by high concentrations of thrombin or collagen; (4) no further inhibition by ADP scavengers of aggregation, release reaction, and fibrinogen or vWF binding, comparable with those observed for normal platelets in the presence of ADP scavengers; (5) normal membrane glycoprotein (GP) composition and normal binding of the anti-GP IIb/IIIa monoclonal antibody 10E5; (6) no acceleration by ADP of binding of the anti-GP IIb/IIIa monoclonal antibody 7E3; (7) normal platelet-fibrin clot retraction if induced by thrombin or reptilase plus epinephrine, absent if induced by reptilase plus ADP; (8) no inhibition by ADP of the prostaglandin E1-induced increase in platelet cyclic adenosine monophosphate, but normal inhibition by epinephrine; (9) defective mobilization of cytoplasmic Ca2+ by ADP; (10) normal binding of 14C-ADP to fresh platelets, but defective binding of [2-3H]-ADP to formalin-fixed platelets. This congenital platelet function defect is characterized by selective impairment of platelet responses to ADP, caused by either decreased number of platelet ADP receptors or abnormalities of the signal-transduction pathway of platelet activation by ADP.

15-Hydroxy-11 alpha,9 alpha-(epoxymethano)prosta-5↗
PubMed1962

Congenital defect of the pericardium.

The morbid anatomy and histopathology is described as found at necropsy on a 7-year-old coloured girl who suffered from partial defect of the pericardium with prolapse and partial incarceration of the cardiac apex. Because of the absence of any history of illness during life the defect is considered to have been congenital, and because of the lack of any other significant necropsy findings, it is considered to have been the cause of death.

Autopsy↗