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Biomedical subjects

A Guala

Publications and source records attributed to A Guala.

At least 55 records · Page 3Linked to original sources
PubMed1998

Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome.

We report on a pair of monozygotic twins with probable Baller-Gerold syndrome (BGS). Twin A had severe coronal craniosynostosis. Twin B had right radioulnar and ipsilateral first metacarpal hypoplasia. Both had bilateral fifth finger clinodactyly. Assuming that the twins were truly monozygotic, a single genetic disorder (i.e., BGS) could explain the variable expression. Together the twins have the typical anomalies of BGS. The diagnosis was supported by the metacarpophalangeal profile (MPP) which confirmed hypoplasia of the first right metacarpal in Twin A and bilateral fifth finger brachymesophalangy in both twins. Furthermore, the MPP showed an unexpected abnormal lengthening of the first metacarpal (unilateral in Twin A and bilateral in Twin B), a previously undetected radial ray defect in BGS. These findings suggest the possibility that the MPP may assist recognition of mild cases of BGS such as those with apparently isolated craniosynostosis or isolated upper limbs defects.

Adult↗
PubMed1998

Prevalence of genetic hemochromatosis in a cohort of Italian patients with diabetes mellitus.

BACKGROUND: Few data exist on the prevalence of genetic hemochromatosis among diabetic patients. OBJECTIVE: To compare the prevalence of genetic hemochromatosis in diabetic patients and a matched control group and to evaluate the accuracy of iron-related indexes in detecting hemochromatosis. DESIGN: Cross-sectional study. SETTING: Diabetes clinics of four hospitals in northern Italy. PATIENTS: 894 diabetic patients (117 with type 1 diabetes and 777 with type 2 diabetes) and 467 matched controls. MEASUREMENTS: Transferrin saturation and serum ferritin levels were measured in all study participants. After secondary iron overload was excluded as the cause of persistently elevated transferrin saturation and serum ferritin levels, liver biopsy was performed and siderosis was estimated semiquantitatively and quantitatively. A hepatic iron index greater than 1.9 was considered diagnostic for hemochromatosis. RESULTS: Hemochromatosis was diagnosed in 12 patients with type 2 diabetes (prevalence, 1.34% [95% CI, 0.7% to 2.3%]) and 1 control (prevalence, 0.2% [CI, 0.1% to 1.4%]; P = 0.032). The odds ratio of hemochromatosis in association with diabetes was 6.3 (CI, 1.1 to 37.7). Measurement of transferrin saturation was the most sensitive test for hemochromatosis. CONCLUSIONS: Genetic hemochromatosis is frequently not diagnosed in patients with diabetes, although it is a hallmark of the disease. Screening for hemochromatosis could be beneficial for patients with diabetes.

Adolescent↗
PubMed1997

Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia.

Fronto-metaphyseal dysplasia (FMD) is an uncommon but clinically striking condition affecting bone and connective tissue. The terms used to define this syndrome fail to cover all the reported findings, the abnormalities not being confined to the metaphyses and to the frontal bones. We report on a patient who, in addition to the clinical manifestations characteristic of the syndrome, showed esophageal atresia with distal tracheoesophageal fistula. Particular emphasis is given to the extraskeletal manifestations of the syndrome reported in the literature.

Abnormalities, Multiple↗
PubMed1997

Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome.

We report on a patient with a multiple congenital abnormalities/mental retardation (MCA/MR) syndrome including facial abnormalities, agenesis of the corpus callosum, heart defect, 1st ray anomalies of the upper limb, and ambiguous genitalia, whose phenotype overlaps a previous description of XK syndrome. The patient has a ring chromosome (13) with deletion 13q32-qter. Molecular analysis demonstrated loss of the region from D13S317 to D13S285 and a paternal origin of the anomaly.

Abnormalities, Multiple↗
PubMed1996

Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18.

We report on a girl with Ullrich-Turner phenotype and 45,X/47,XX,+18 chromosomal mosaicism. Only two other patients with similar mosaicism have been reported, both girls with XY sex chromosome constitution. The face of the patient was highly asymmetric, the right side being almost normal, the left showing a typical Ullrich-Turner syndrome appearance. This clinical impression was strengthened by photographic doubling of both hemifaces. The patient had normal intelligence and did not show any stigmata of trisomy 18.

Abnormalities, Multiple↗
PubMed1996

[Implementation of the pediatric services in the region of Piedmont. A Piedmont pediatric team].

A survey was carried out within the framework of the Association of Hospital Pediatricians (APO) on the implementation of the pediatric structure in Pediatric hospitals wards in Piedmont during 1990. There was a 100% adhesion rate. It was found that only in 7 out of 36 hospitals were children always admitted to the Pediatric Division irrespective of symptoms. In all remaining cases, hospitalisation was based on the pathology and therefore children were spread between pediatric and adult wards with a percentage of over 30% (it was only possible to verify this figure in a small number of hospitals). Children with surgical symptoms were admitted to adult wards for the entire duration of their hospital stay in 17 hospitals. Only in 7 hospitals were children with surgical problems given pre- and postoperative treatment in pediatric wards. In 18 out of 36 hospitals children undergoing surgery were not even examined before the operation by a pediatrician. The implementation of the pediatric structure mainly depended on the behaviour of the PS DEA and therefore the fact that when a child entered hospital he immediately came into contact with the pediatrician. It was also found that average hospital stay in pediatric wards was 4.4 days (range 2.1-7.4); the mean index of bed occupation was 50% (range 27.5-83.4). A pediatric doctor was on duty round the clock only in 10 out of 36 centres. In the majority of hospitals the number of beds destined for day-hospital activities was not specified. It is also worth pointing out that the number of neonatal cradles is never specified by the Regional Health Plan and there is no legal recognition of neonates admitted to the Nursery and, as a result, the number of neonatal medical staff is not quantified. A greater incisiveness of the current statutory requirements for the implementation of the pediatric structure might improve the level of assistance for children admitted to hospital.

Health Services↗
PubMed1996

The Williams syndrome: an Italian collaborative study.

Williams syndrome (WS) is a multiple congenital anomalies/mental retardation syndrome caused by a microdeletion on the long arm of chromoome 7 including the elastin gene. Possibly it is a contiguous gene syndrome with autosomal dominant transmission. Seventy-seven WS patients from 11 Italian Pediatric-Dysmorphology-Genetics Units were collected by means of a questionnaire designed to draw a comprehensive clinical picture, to define the frequency of different traits and associations thereof, to better understand the clinical evolution, to improve the prognosis and to ameliorate the follow-up. The most important signs for diagnosis, based on their relative frequencies, are: mental retardation with characteristic outgoing behaviour and hoarse voice; facial findings like stellate iris, periorbital fullness and thick lips; congenital heart disease. The frequency of the clinical signs reported in our patients are on the whole concordant with those found in the literature; the only significant differences concern low stature, hallus valgus, hypoplastic nails, joint contractures and ear infections. The multisystemic nature of this syndrome requires a coordinated and integrated approach in order to avoid fragmentary interventions.

Abnormalities, Multiple↗
PubMed1995

Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum.

We report on a patient with manifestations typical of Mohr syndrome and of the short rib (polydactyly) syndromes (SR(P)S) Majewski, Verma-Naumoff, Beemer, and Jeune. It seems possible that the different types of SR(P) syndromes, rather than being distinct conditions, are part of a large disease spectrum. The frequent overlap between orofaciodigital syndromes and SR(P) syndromes may be interpreted as the outcome of deletions of different size within the same chromosome region.

Abnormalities, Multiple↗
PubMed1995

Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature.

Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome is a condition characterized by variable combined immunodeficiency, developmental delay, facial anomalies and a variety of structural chromosomal rearrangements. Recently, aberrations at the molecular level have been described consisting of alterations in the methylation pattern of classical satellite DNA. To our knowledge 15 subjects have been described so far in the literature showing marked phenotypic variability. We report on two new patients with normal development and some peculiar clinical and immunological manifestations. All patients previously reported in the literature are reviewed. CONCLUSION. The identification of these two cases among our hypogammaglobulinaemic patients suggests that ICF syndrome is not a rare disorder and it should be always taken into account in immunodeficient patients with facial abnormalities.

Abnormalities, Multiple↗
PubMed1995

Pre-B acute lymphoblastic leukemia in a patient with partial lipodystrophy and acanthosis nigricans.

In patients with lipodystrophies a post binding defect in insulin action has been described involving phosphorylation of the beta subunit of the insulin receptor, suggesting the presence of a genetically determined defect in insulin action; the receptor gene has been mapped to the distal short arm of chromosome 19 close to the break-point of a specific chromosome translocation frequently found in pre-B Acute Lymphoblastic Leukemia (ALL). We report on a 13 years old female patient with partial lipodystrophy, acanthosis nigricans and insulin resistance who developed a pre-B ALL. Since lipodystrophy and pre-B ALL are rare disorders, a possible causal relationship between the two diseases is suggested possibly mediated by a mutation in the insulin receptor gene.

Acanthosis Nigricans↗
PubMed1993

Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome.

We report on a 13 1/2-year-old patient with Kabuki make-up syndrome and complete idiopathic precocious puberty manifested at 7 1/2 years. In addition to the other specific clinical signs, she showed hypodontia and lower lip pits, as typically seen in the Van der Woude syndrome. The significance of lower lip pits in the Kabuki make-up syndrome is discussed.

Abnormalities, Multiple↗
PubMed1993

Inguinal hernia and atrial septal defect in Tel Hashomer camptodactyly syndrome: report of a new case expanding the phenotypic spectrum of the disease.

We report on a girl with Tel Hashomer camptodactyly syndrome (THCS) born to first-cousin parents. In addition to the usual findings, the patient had bilateral inguinal hernia and atrial septal defect, not previously described as component manifestations of the syndrome. The present description expands the phenotypic spectrum of the syndrome and gives new support to the hypothesized pleiotropic effects of the THCS gene on connective tissue.

Abnormalities, Multiple↗
PubMed1992

Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant.

We report on 2 sibs with manifestations of the Kenny-Caffey syndrome born to normal, consanguineous parents. Clinical manifestations included dwarfism, internal cortical thickening and medullary stenosis of tubular bones, poorly ossified skull bones, and hypocalcemia. The younger of the two died during a tonic convulsion. The older had neonatal hypoparathyroidism and is now a short intelligent, 1-year-old child. This family gives new support to the existence of an autosomal recessive variant of the syndrome.

Abnormalities, Multiple↗