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Biomedical subjects

A Guala

Publications and source records attributed to A Guala.

At least 73 records · Page 4Linked to original sources
PubMed1992

A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait.

In 1982, Nadol & Burgess reported a new syndrome of cataract and progressive sensorineural hearing loss, inherited in an autosomal dominant fashion. Extensive histopathologic studies of the inner ear of the proband revealed severe cochleosaccular degeneration. No other sporadic or familial cases of such a genetic syndrome have subsequently been described. We report here a second family in which the syndrome of cataract and progressive sensorineural deafness is observed in eight members, and is inherited according to an autosomal dominant pattern.

Cataract↗
PubMed1992

[Popliteal entrapment syndrome with distal embolization. Description of a clinical case].

External compression of the popliteal artery is probably still underdiagnosed. Repeated minor trauma to the popliteal artery as it passes through anomalous fibrous bands, due to developmental defects, may lead to stenosis and occlusion, with consequent chronic or acute ischaemic symptoms, usually in young males without cardiovascular risk factors. Distal embolization to the tibial arteries, to the foot arch and digital vessels is common but is not emphasized in the literature. This distal embolization may compromise the results of surgical repair. Early repair of the anomaly fibrous band is advocated even in a still asymptomatic lower limb. One patient with bilateral popliteal artery entrapment, causing unilateral occlusion, with distal embolization, is reported.

Adult↗
PubMed1992

[Severe sideropenic anemia in a young middle-distance runner].

In recent years several cases of anemia (iron deficiency) have been reported in adults who participate in long-distance running although its etiology has not been entirely explained. We report the case of a 16-year-old girl who had participated in middle-distance running at a competitive level for about three years and who had been admitted to hospital because of a progressive weakness and a reduction in her sporting performance. Evaluation revealed that the patient had a balanced diet, normal menstrual cycles and slight abdominal pain. The objective examination were negative except for the presence of a pronounced pallor of the skin and the mucous membranes. The blood count revealed Hb 7.5 g%, Ht 26%, GV 63 mu 3, the reticulocyte count was 10%, serum iron 9 micrograms/dl, serum transferrin 450 micrograms/dl and serum ferritin 4 ng/ml. All tests for constitutional anemia proved negative. Stool Hemoccult tests proved negative (these tests were carried out some weeks after the patient had stopped running). Her symptoms resolved after the beginning of iron treatment and her blood test results returned to normal. This case has been reported to draw attention to the existence of this problem in adolescents who practice sport. The knowledge of the problem night lead to a preventive scanning of young athletes and the presence of clinical manifestations would reduce the need for invasive tests.

Adolescent↗
PubMed1992

Cerebrofaciothoracic dysplasia: a new family.

We describe two brothers, born to consanguineous parents, who had facial dysmorphism, complex anomalies of the vertebrae and ribs, enlarged cerebral ventricles and septum pellucidum, mental retardation, and affable behaviour. The features are similar to those previously described in three unrelated children and may represent new cases of cerebrofaciothoracic dysplasia.

Abnormalities, Multiple↗
PubMed1991

Aniracetam (Ro 13-5057) in the treatment of senile dementia of Alzheimer type (SDAT): results of a placebo controlled multicentre clinical study.

One hundred and nine elderly patients suffering from mild to moderate cognitive impairment fulfilling NINCDS-ADRDA criteria for probable dementia of the Alzheimer type were treated for 6 months with a new nootropic drug, aniracetam (Ro 13-5057) in a double-blind randomized study versus placebo. The two treatment groups were comparable at baseline for demographic and behaviourial parameters and symptomatology. Patients underwent clinical, behaviourial and psychometric evaluation every other month. The aniracetam group differed significantly from the placebo group by the end of the study and also showed a statistically significant improvement versus baseline in the psychobehavioural parameters, while in the placebo group a steady deterioration was observed. Tolerability to aniracetam was excellent.

Aged↗
PubMed1990

Heart-hand syndrome II. A report of Tabatznik syndrome with new findings.

The association of upper limb malformations and congenital cardiac anomalies was established as a definite clinical and genetic entity by Holt & Oram in 1960. Significant variability of malformations in both the upper limbs and the cardiovascular system has been well documented. In 1978, Temtamy & McKusick reported a family studied by Tabatznik, in which upper limb deformities, including type D brachydactyly, occurred in association with cardiac arrhythmias as a dominant, either autosomal or X-linked trait. They called this apparently new entity "Heart-Hand syndrome II" to distinguish it from the Holt-Oram syndrome. No other similar cases have subsequently been reported. We describe here the second family affected with the Tabatznik syndrome and add some new findings to the clinical spectrum of this condition.

Abnormalities, Multiple↗
PubMed1987

A new syndrome with ocular, skeletal and renal involvement.

A patient with retinitis pigmentosa, hypertension with interstitial nephropathy, short limb dwarfism with Madelung deformity of the forearms and an unclassified type of brachydactyly is described. Such bone dysplasia has never been reported to date either as a single entity or associated with renal and retinal diseases.

Abnormalities, Multiple↗
PubMed1986

The Coffin-Siris syndrome in two siblings.

Two sisters with Coffin-Siris syndrome, born to healthy unrelated parents, are reported. The accurate X-ray evaluation of the two patients allows the identification of some new features and a better delineation of the radiological phenotype. Our two cases confirm the proposed autosomal recessive inheritance of the syndrome.

Adult↗
PubMed1986

Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity.

An infant boy with asymmetric crying facies, microcephaly, developmental retardation and failure to thrive is reported. His two siblings died in the newborn period because of complex congenital heart defects. The mother and the maternal grandmother have asymmetric crying facies, microcephaly and normal intelligence. A maternal aunt has severe physical and mental retardation, facial asymmetry, microcephaly, and cleft palate. This family allows an expansion of the spectrum of malformations associated with asymmetric crying facies and suggests autosomal dominant inheritance with variable expressivity.

Abnormalities, Multiple↗
PubMed1984

Interstitial deletion of chromosome 1 (q23-q25). Report of a case.

We describe a 3-month-old female with a de novo interstitial deletion of the long arm of chromosome 1 (1q23-25). Clinical features are failure to thrive, psychomotor retardation, cleft lip and palate, short metacarpals, metatarsals and fingers and a severe congenital heart disease. The four previously reported patients with the same deletion share with ours the distinctive pattern of anomalies of the face and limbs; therefore, it seems now possible to delineate a proximal 1 q deletion syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

[What shall I eat today? Survey about dietary habits of infants and toddlers in Valsesia].

In April 2002 a survey was conducted about dietary habits of infants and toddlers attending kindergartens in Valsesia, through dietary journal compilation. From 149 answers (response rate = 70%) the results are: a limited vegetables consumption, with a potatoes excess and a legumes scarcity; only one half of children eats fruits daily; consumption of ham and cheese is higher than other proteinic foods; foods variety is weak and the menu is often repetitive in lunch and dinner.

Child, Preschool↗
PubMedDate not supplied

[Are metoclopramide dystonias familial?].

Metoclopramide is an antiemetic drug; the effects on CNS (acute dystonic reaction, tardive dyskinesia, parkinsonism) occur in only 1 of 500 patients treated. Acute dystonic reactions are not apparently dose-dependent and suggest individual sensitivity to the drug (idiosyncrasia). We report 4 cases in 2 families (grandmother-grandchild; brother-sister). We feel that, if there is a case of dystonic reaction to metoclopramide, this drug should not be administered to other members of the same family.

Adolescent↗
PubMedDate not supplied

[Celiac disease in Piedmont. An epidemiological-clinical study].

The incidence of coeliac disease (CD) was calculated on 304 patients under eighteen who were born in the city of Turin and its province in the years 1975-1989; the prevalence on 494 patients who live in the Piedmont Region. The mean crude yearly incidence was 0.511/1000 (1:1957 live birth). It varied from year to year, reaching minimum values in the years 1984-1987. In a contemporary epidemiological study, the mean crude incidence of CD in Italy was 1.2/1000 (1:833 live birth) twice the rate observed in Turin. The prevalence of paediatric CD in Piedmont was 113 per million inhabitants. Since CD has a normal life expectancy, its prevalence may be expected to increase. In the provinces of Novara, Alessandria and Asti CD prevalence was lower than in the others. Mean age at onset was 6 mos in 1975 and increased to 34 mos in 1989. Mean age at diagnosis was 15 mos in 1981, and 7 yrs in 1989. Symptoms were more numerous and severe in patients under 12 mos of age, and became fewer and often atypical in older children. We can therefore speculate that the trend towards a decreasing incidence of CD in recent years my be due to delayed diagnosis.

Adolescent↗