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Biomedical subjects

M Geormăneanu

Publications and source records attributed to M Geormăneanu.

At least 19 recordsLinked to original sources
PubMed1990

[Proximal monosomy 13].

A 45,XX,-13, der(22), rcp(13;22)(q12;q13)mat karyotype was observed in a 7-month-old female with multiple congenital anomalies. Her mother is a balanced t(13;22)(q12;q13) carrier.

Abnormalities, Multiple↗
PubMed1976

[Spinocerebellar ataxia with monilethrix, typical facial features, and dental anomalies].

The authors present a form of heredodegenerative spinocerebellar ataxia with concomitant involvement of ectodermal structures, different from other variants. The disease was characterized by spinocerebellar ataxia (the complete form); curly, thin, short and dense hair, mikroskopically monilethrix; a characteristic face (hypertelorism, flattened and wide base of the nose, prominent nostrils, large mouth, thick lips); and abnormal teeth which were reduced in number and had gaps inbetween. The psycho intellectual development and the voice of the patient were normal. The first neurological symptomes were observed at the age of 3 years and progressively developed until now at the age of 6 years. Data necessary to establish the mode of hereditary transmission were not available.

Adolescent↗
PubMedDate not supplied

Kawasaki disease in an infant with cystic fibrosis.

The authors report a case of a 3-month-old infant with a very rare association: cystic fibrosis and Kawasaki disease. The clinical picture is atypical but cardiovascular signs consist of cardiomegaly, sick sinus syndrome and Q waves in D II, D III and AVF. The diagnosis is confirmed by the pathological changes found at the postmortem examination. The patient is the first case of Kawasaki disease reported in Romania.

Anti-Bacterial Agents↗
PubMedDate not supplied

[Clinical and histopathologic polymorphism in cystic fibrosis].

After reviewing recent data concerning the pathologic physiology of cystic fibrosis the authors present an anatomoclinical study of 30 infants, of which 13 neonates, with a diagnosis of mucoviscidosiss, emphasizing the clinical and pathohistologic polymorphism of this affection, and, particularly involvement of the liver and intestines. Specific hepatic lesions were encountered in only 10% of the group studied (Bodian biliary cirrhosis and mucus stoppers in the bile ducts). Unspecific hepatic lesions were dominant, common with those of neonatal hepatitis, and hepatic steatosis. Stress is laid on the presence of atrophy of the villi in children with hepatic steatosis, proof of a lesional substrate of malabsorption in this disease. The authors note the early onset of hepatic lesions, the gravity of the cases with an early clinical expression and hepatic biopsy puncture as the only method revealing hepatic affection in cystic fibrosis. In the first semester of life there exists purely digestive forms, hepatic steatosis and oedematous dystrophy in infants at this age being highly suspect of the etiology.

Cystic Fibrosis↗