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Biomedical subjects

F Mollica

Publications and source records attributed to F Mollica.

124 records · Page 7Linked to original sources
PubMedDate not supplied

The fragile X in Sicily: an epidemiological survey.

We have studied a group of 349 institutionalized propositi with mental retardation, and found 12 fra(X)-positive cases among 155 males (7.7%) and 8 fra(X)-positive cases among 194 females (4.1%). The males had characteristic manifestations of the Martin-Bell syndrome. Another 7 males, who were initially considered "borderline", having expression of fra(X) less than 4% and a non-characteristic phenotype, were eventually considered negative. Among 5,624 patients (2,764 males and 2,860 females) that were admitted to the Pediatric Department of the University of Catania during the period July 1986 - June 1987, 210 (120 males and 90 females) had mental retardation. Of these, 75 were analyzed for the presence of fra(X) (q27.3); 5 males (0.18% of all males) and 2 females (0.07% of all females) were fra(X)-positive. The males had the Martin Bell syndrome phenotype. The presence of fra(X) (q27) was confirmed in another 4 male propositi that were referred to our outpatient services with a clinical diagnosis of Martin-Bell syndrome.

Adolescent↗
PubMedDate not supplied

Autosomal recessive generalized myotonia.

Four cases of autosomal recessive generalized myotonia are reported. Attention is drawn to the fact that this condition represents a disease entity distinct from the myotonia congenita of Thomsen, which is transmitted as an autosomal dominant trait. The clinical features of the two conditions are similar, apart from minor quantitative differences. The family history is the major tool for the differential diagnosis. The possibility of the detection of heterozygotes by electromyography is discussed.

Adolescent↗
PubMedDate not supplied

[Genetic role in hernia of the esophageal hiatus. Description of the disease in 2 brothers].

Two brothers born 15 years apart from normal healthy parents were affected by esophageal hiatus hernia diagnosed at 4 and 8 months respectively. We found 37 other families with more than one member affected by EHH reported in the literature. Since the anomaly often runs asymptomatic, familiarity is probably more frequent than generally thought. The type of inheritance is still uncertain, but a multifactorial etiology is the most likely explanation.

Age Factors↗
PubMedDate not supplied

[Neuropsychic development in children born with spina bifida].

The authors present the outcome of 42 patients operated at birth for closure of the spinal malformation. The age of patients at first observation ranged from 3 months to 21 years (mean 8.3 years); 7 patients (16.7%) had a close spina bifida, 35 (83.3%) had an open spina bifida and 30 (85.7%) of them developed hydrocephalus. The protocol included neurological evaluation, determination of development quotient using the Griffith's scale and intelligence quotient using the Wise-R scale. Adolescents underwent also the Blacky pictures test and Offer's interview. Verticalization and tutorial deambulation were achieved in 95.2% of patients; 76% of patients had a I.Q. > 90. The emotional situation was unsatisfactory in the majority of patients due to reduced autonomy and limited self-consideration.

Adolescent↗