ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.

Tricuspid atresia (TriAt), the third most common cyanotic congenital heart defect (CHD), consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle. To date, the genetic mechanism responsible of TriAt is still obscure. However, animal models have suggested a role of cardiogenic Zfpm2/Fog2 and Hey2 genes in the pathogenesis of TriAt.

VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.

Purpose: Keratoconus is a noninflammatory corneal disorder that is clinically and genetically heterogeneous. Mutations in the VSX1 (visual system homeobox 1) gene have been identified for two distinct, inherited corneal dystrophies: posterior polymorphous corneal dystrophy and keratoconus. To evaluate the possible role of the VSX1 gene in a series of Italian patients, 80 keratoconus-affected subjects were screened for mutations.

KBG syndrome in a cohort of Italian patients.

KBG syndrome comprises a distinct facial phenotype, macrodontia, short stature, and skeletal anomalies. So far, it has been reported in 29 individuals. Recently, diagnostic criteria were outlined.

A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.

Noonan (NS) and multiple lentigines/LEOPARD syndromes (LS) have proved to be associated with distinct PTPN11 mutations. Noonan-like/multiple giant cell lesion syndrome (NLS) is a rare disease, characterised by short stature, facial dysmorphisms, congenital heart defect (CHD) and central giant cell lesions. PTPN11 gene mutations have been reported in a single NLS family and two sporadic patients.

Ablepharon-macrostomia syndrome in a 46-year-old woman.

Ablepharon-macrostomia syndrome (AMS) is a rare condition reported to date in 13 patients worldwide. AMS is characterized by absent or short eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. Additional features include alopecia or sparse hair, hypoplastic malar region, redundant skin, rudimentary nipples, abnormal genitalia.

Two 48,XXYY patients: clinical, cytogenetic and molecular aspects.

Two 48,XXYY males, a young and an adult patient, have been clinically and molecularly analysed. Clinical findings seem less severe in the young patient. This clinical difference could be mainly due to the age of the younger patient or, alternatively, the different pattern of X-inactivation observed in the two patients could play a role in the degree of the clinical manifestations.

Recurrent triploidy of maternal origin.

Triploidy is the most frequent chromosome aberration in first trimester spontaneous abortions. In contrast to aneuploidies due to nondisjunction, increased maternal age is not a risk factor and the mechanism of triploidy remains poorly understood. To date, recurrence of triploidy of maternal origin has been described only in a few families suggesting some underlying genetic factors.

Interstitial "de novo" tandem duplication of 7(q31.1-q35): first reported case.

A patient carrying a de novo 7q31-35 duplication is presented. The tandem duplication was confirmed by FISH analysis. The case seems to be the first in the literature and, in spite of the large size of the duplicated region, he shows mild facial dysmorphism and a moderate mental retardation.

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.

The role of the 22q11 region genes, and among them TBX1, in nonsyndromic conotruncal defects (CTDs) is still unclear. Mice hemizygous at the Tbx1 locus show a remarkable incidence of heart outflow tract anomalies, of the same type commonly found in DiGeorge/Velo-cardio-facial syndrome (DGS/VCFS). Mutation analysis of the TBX1 gene in isolated, nonsyndromic CTDs has not demonstrated any functional pathogenetic variation so far.

A complex mosaicism 45,X/46,X,del(Xq)/46,X,idic(Xq) in a patient with secondary amenorrhea.

A complex mosaicism involving the X chromosome was found in a 35-year-old female affected by secondary amenorrhea and short stature. Her karyotype was: 45,X[20]/46,X,del(X)(pter-->q26::qter)[15]/46,X,idic(X)(pter-->q26::q26-->pter)[9]. No cell contained both abnormal X chromosomes.

Appropriateness of urea breath test: a prospective observational study based on Maastricht 2000 guidelines.

Background: The urea breath test is routinely used for diagnosing or confirming the eradication of Helicobacter pylori.

Aim: To evaluate the appropriateness of urea breath test referrals.

Methods: The age, sex, symptoms, endoscopic findings, use of non-steroidal anti-inflammatory drugs, family history of gastric cancer or H.

Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.

We report an Italian family affected by Usher type III syndrome. Linkage study, performed using markers corresponding to the Usher loci already mapped, clearly showed linkage with markers on chromosome 3q24-25. Our data further support the presence of an Usher III locus on chromosome 3, as recently reported in a Finnish population.

Goldenhar complex: a further case with uncommon associated anomalies.

We report on a further case of Goldenhar complex with uncommon and clinically remarkable associated anomalies. This additional case increases the number of observations and descriptions of patients with "expanded Goldenhar complex." Pathogenetic aspects are discussed.

The pattern electroretinogram (PERG) after laser treatment of the peripheral or central retina.

Purpose: To understand whether laser photocoagulation of the retina for the treatment of diabetic retinopathy (DR) alters directly or indirectly the function of the macular region.

Methods: Transient pattern electroretinograms (PERGs) to 30' checks have been recorded in DR patients before and 7-10 days after one treatment session (established protocol with Argon laser) of either the peripheral retina (panretinal treatment) or the central retina (paramacular focal treatment).

Results: Treatment of the peripheral retina causes, in most eyes, a small increase (about 15% on average) of the PERG amplitude.

Spatial-temporal interactions in the steady-state pattern electroretinogram.

It is currently assumed that steady-state pattern electroretinograms can be obtained only at high rates of pattern reversal. However, steady-state responses can also be obtained at very low temporal frequencies (less than 1 Hz), provided that the reversal is sinusoidal. In five healthy volunteers, we studied the frequency characteristics of the pattern-reversal electroretinogram in response to sinusoidal gratings of 0.

Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review.

A case of r(14) chromosome is described and new information is added to a previously reported patient. The r(14) syndrome is reviewed on the basis of 37 known patients. The major features include prenatal and postnatal growth retardation, mental retardation, seizures, microcephaly, and distinct facial dysmorphism, including elongated face, narrow palpebral fissures, epicanthus, and broad nasal bridge.