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Biomedical subjects

C Romano

Publications and source records attributed to C Romano.

At least 325 records · Page 18Linked to original sources
PubMedDate not supplied

A dermatoglyphic study of a group of Sicilian children with fragile-X syndrome.

In a dermatoglyphic study of 14 fra(X) boys (compared with a control group of 191 normal schoolboys), we observed the following statistically significant (p less than 0.01) differences: 1) lower frequency of ulnar loops on the fingertips, particularly on the 2nd and 3rd fingers, with a corresponding increase of whorls; 2) transverse course of main line A; 3) increased frequency of abnormal palmar creases. The log score index of Simpson et al [1984] identified 71.4% of our patients and that of Rodewald et al [1986] 64.2%. The different values of these indexes can probably be attributed to ethnic differences. We think that by combining the results of dermatoglyphic analysis from several centers a more discriminatory log score index can be obtained.

Child↗
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

A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome.

The Kohlschütter syndrome is a very uncommon inherited disorder characterized by epilepsy, dementia, and yellow teeth. We present two new patients who contribute to an increase in our knowledge of the clinical phenotype of this syndrome. They are two siblings born from consanguineous parents. Dysmorphological signs, such as broad thumbs, are reported for the first time in association with this syndrome, together with neurophysiological peculiarities (occipital evoked spikes) and hypoplasia of the cerebellar vermis. The authors suggest that ethnic factors might be important and conclude that the clinical phenotype of the Kohlschütter syndrome is still in need of further characterization.

Cerebellum↗
PubMedDate not supplied

Computed tomography in maple syrup urine disease.

Maple Syrup Urine Disease (MSUD) is an inherited metabolic disorder characterized by a severe, usually lethal, neonatal course in the early stages with pseudotumor cerebri and pathologically documented increased cerebral water content. CT and MRI studies in MSUD are few and the data are overlapping. This study reports CT features before and after dietary treatment in three patients; two with classical MSUD and one with an intermediate variant of MSUD. At diagnosis, CT consistently showed evidence of abnormally high lucidity involving not only white matter, but also areas of grey matter, particularly the pallidum. Furthermore, these CT changes are present both in the acute phase of classical MSUD and in an intermediate variant of the disease. The observed abnormalities evolve favorably under dietary treatment, simultaneously with clinical and neurological improvement. It is concluded that the observed CT changes indicate a diagnosis of MSUD and are relevant findings in the neuroradiologic differential diagnosis in acutely ill newborns, in which a metabolic disease may be not immediately suspected.

Humans↗
PubMedDate not supplied

Biochemical and morphological analysis of non-NMDA receptor mediated excitotoxicity in chick embryo retina.

Ionotropic glutamate receptors (iGluRs) are ligand-gated ion channels that mediate glutamatergic neurotransmission, and when pathologically overstimulated induce excitotoxic neuronal death. Of the two families of iGluRs, the non-NMDA receptors have received less experimental attention than the NMDA receptors as mediators of neuronal death in in vitro systems. We have demonstrated that non-NMDA receptor activation is highly lethal for neurons of the chick embryo retina, and further characterize this phenomenon here. Treatment of isolated retinas with any of the non-NMDA receptor agonists glutamate, AMPA, or KA, in the presence of the NMDA receptor antagonist MK-801, led to pathomorphology and cell death. KA was the most effective toxin. All of KA-induced toxicity could be blocked by selective AMPA receptor blockers. The toxicity of both AMPA and glutamate could be greatly increased using cyclothiazide, which blocks AMPA receptor desensitization. These results indicate that KA is the most powerful toxin because it is a non-desensitizing agonist at the AMPA receptors. Glutamate exhibited a paradoxical ability to prevent KA-induced toxicity as measured by a biochemical assay of cell death. Also, histological studies indicated that glutamate selectively blocked KA-induced pathomorphological changes in bipolar cells. This protective effect of glutamate was not mimicked by AMPA, NMDA, or any of several metabotropic receptor agonists, indicating that it may be mediated by a receptor of undescribed pharmacology.

Animals↗
PubMedDate not supplied

An intriguing case of LEOPARD syndrome.

We report a 9-year-old boy affected by LEOPARD syndrome, who also had ichthyosis, axillary freckling, two café au lait spots, and one neurofibroma. The diagnosis of LEOPARD syndrome has been made on clinical grounds, whereas the ichthyosis and neurofibroma have been histologically confirmed. The analogies between LEOPARD syndrome and neurofibromatosis have been discussed. Finally, we maintain this case is an example of the multiple lentigines syndrome/LEOPARD syndrome spectrum.

Abnormalities, Multiple↗
PubMedDate not supplied

Tinea incognito due to Microsporum gypseum in three children.

Tinea incognito is a dermatophytosis of atypical clinical character due to the absence of classic features of ringworm. It is caused by prolonged use of topical steroids, sometimes prescribed as a result of incorrect diagnosis. The cases reported in the literature have different clinical presentations and have generally been in adults. We report three children with tinea incognito in whom the lesions were psoriasis-like, eczema-like, and lichenoid, respectively. Diagnosis was confirmed by mycologic examination, which led to the identification of Microsporum gypseum, a geophilic dermatophyte which is an infrequent agent of mycotic infection in humans.

Child↗
PubMedDate not supplied

Rubinstein-Taybi syndrome with epidermal nevus: a case report.

We describe an 8-year-old boy with Rubinstein-Taybi syndrome, a multiple congenital anomaly/mental retardation syndrome characterized by broad thumbs and great toes, peculiar facies, and mental retardation caused by mutations in the transcriptional coactivator CREB binding protein (CBP). He had on his right side yellowish papular lesions organized in narrow bands according to Blaschko lines, later confirmed by histology as an epidermal nevus. Epidermal nevus syndrome has been ruled out because the patient failed to meet the criteria for inclusion under this designation. This association may be coincidental.

Child↗
PubMedDate not supplied

Tinea capitis in infants less than 1 year of age.

Tinea capitis is the most frequent manifestation of dermatophyte infection in children, but because it is rare in the first months of life it is often misdiagnosed. Here we report 15 cases of tinea capitis observed in Italy in infants less than 1 year of age. There were 10 boys and 5 girls (mean age 6 months). Diagnosis was confirmed by mycologic examination. Microsporum canis was isolated in nine cases and Trichophyton mentagrophytes in three. These 12 infants were Italian and animals were the source of infection. Trichophyton erinacei was isolated in one Italian infant, and the source was soil. In the other two cases, Trichophyton tonsurans and Trichophyton violaceum were isolated; these infants were from Central America and India, respectively, and had contracted the infection from humans. All achieved clinical and mycologic recovery after systemic and topical antimycotic therapy.

Age Factors↗