A reduced scapulo-humeral angle contributes to the development of scapular notching in reverse total shoulder arthroplasty.

Purpose: Scapular Notching (SN) is one of the most common postoperative complications for a patient after Reverse Total Shoulder Arthroplasty (RTSA). Despite employing various strategies to mitigate SN risk, the overall incidence remains far from zero. This article introduces a new risk factor, the scapulo-humeral angle (SHA), as a key element influencing the risk for SN.

A fast, easy and reliable method for hamstrings graft size prediction in anterior cruciate ligament reconstruction.

Purpose: The aim of this study is to describe and validate a simple and reliable method to pre-operatively predict the size of the ACL graft in the double strand technique with autologous semitendinosus-gracilis tendons on the same MRI used for ACL rupture diagnosis.

Methods: The study included 92 patients, with a median age of 31 years (IQR 26-41 years), 73/92 (79%) of whom were males. All patients that underwent an ACL reconstruction with doubled ST + GT between 2017 and 2022 were counted in the study.

Medial closure supracondylar femoral osteotomy: an effective solution for long-term treatment of arthritic valgus knee?

Purpose: The aim of this work was to retrospectively analyze the clinical, subjective, and radiological results of medial closing-wedge distal femur osteotomy (MCW-DFO) for the treatment of osteoarthritis (OA) in valgus knee at medium- to long-term follow-up.

Materials And Methods: A total of 57 patients (62 knees) treated with MCW-DFO between 1984 and 2018 were included in the study. Patient age at the time of the surgery ranged between 28 and 61 years (average: 48 years).

Adaptability and Comparative Biology of Fall Armyworm on Maize and Perennial Forage Species and Relation with Chemical-Bromatological Composition.

This study compared the development of fall armyworm, Spodoptera frugiperda (J.E. Smith) (Lepidoptera: Noctuidae), on forage species of different genera (Arachis, Axonopus, and Cynodon) in relation to maize (preferred host) as well as its adaptability on these forage species, which are the main cultivated forages in southern Brazil.

Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.

Mutations in the GJB2 gene, which encodes the gap-junction protein connexin 26, are the most common cause of nonsyndromic hearing loss (NSHL) and account for about 32% of cases. We analyzed 734 patients and identified mutations in 474/1468 chromosomes. Thirty-six different mutations and five polymorphisms were found in 269 NSHL subjects.

Parkin analysis in early onset Parkinson's disease.

We analysed the parkin gene in a large consecutive series (146) of unrelated early onset Parkinson's disease (onset ?40 years of age) patients. Twelve cases (8.2%) had homozygous or compound heterozygous point mutations and/or exon rearrangements, while a single mutation was found in four subjects (2.

Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of beta-thalassemia.

The presence of fetal DNA in maternal plasma can be exploited to develop new procedures for non-invasive prenatal diagnosis. Tests to detect 7 frequent beta-globin gene mutations in people of Mediterranean origin were applied to the analysis of maternal plasma in couples where parents carried different mutations. A mutant enrichment amplification protocol was optimized by using peptide nucleic acids (PNAs) to clamp maternal wild-type alleles.

A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness.

Objectives: Mutations in the GJB2 gene, encoding Connexin 26, can cause nonsyndromic recessive deafness or dominant hearing loss (HL) with or without keratoderma. The objective was to perform a molecular evaluation to establish the inherited pattern of deafness in the sporadic cases afferent to our center.

Methods: The subject was a 2-year-old Italian girl with nonsyndromic early onset HL.

Different approaches for noninvasive prenatal diagnosis of genetic diseases based on PNA-mediated enriched PCR.

The aim of this work was to develop advanced and accessible protocols for noninvasive prenatal diagnosis of genetic diseases. We are evaluating different technologies for mutation detection, based on fluorescent probe hybridization of the amplified product and pyrosequencing, a technique that relies on the incorporation of nucleotides in a primer-directed polymerase extension reaction. In a previous investigation, we have already proven that these approaches are sufficiently sensitive to detect a few copies of a minority-mutated allele in the presence of an excess of wild-type DNA, In this work, in order to further enhance the sensitivity, we have employed a mutant enrichment amplification strategy based on the use of peptide nucleic acids (PNAs).

Thalassaemia-like carriers not linked to the beta-globin gene cluster.

This study describes the largest series reported to date, of individuals belonging to unrelated families carrying a beta-thalassaemia-like phenotype in whom the beta-globin gene was found to be structurally intact by sequence analysis. This genetic determinant appears haematologically heterogeneous, displaying either a silent beta-thalassaemia-like phenotype or a typical beta-thalassaemia carrier-like phenotype in different families. Compound heterozygosity for both beta-thalassaemia-like determinant and typical beta-thalassaemia allele resulted either in thalassaemia intermedia or thalassaemia major.

Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome.

Two siblings (brother and sister) with renal tubular hypokalemic alkalosis underwent clinical, biochemical and molecular investigations. Although the biochemical findings were similar (including hypokalemia, metabolic alkalosis, hyperreninemia, hyperaldosteronism and normal blood pressure), the clinical findings were different: the boy, who also presented syndromic signs, developed glomerular proteinuria and renal biopsy revealed focal segmental glomerular sclerosis; the girl showed the typical signs of classic Bartter syndrome. As described in a previous paper, a heterozygous mutation (frameshift 2534delT) was demonstrated in the gene encoding the thiazide-sensitive NaCl co-transporter (SLC12A3) of the distal convoluted tubule; the second molecular analysis revealed a compound heterozygous mutation (A61D/V149E) in the CLCNKB chloride channel gene in both subjects, inherited in trans from the parents.

Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination.

Objectives: To report a multi-technical approach to Duchenne muscular dystrophy (DMD) mutation testing through carrier analysis, in the prenatal diagnosis of a male foetus without a known mutation segregating in the family and with inconclusive results of linkage analysis.

Methods: Haplotype analysis with the DMD region markers for assigning the carrier status of the mother and for prenatal diagnosis of foetal DNA; semiquantitative multiplex analysis of maternal and foetal DNA for the promoter and for 34 exons of the DMD gene; sequencing analysis of the maternal and foetal DNA for confirmation of the results.

Results: Because of an intragenic recombination of the DMD gene in foetal DNA, haplotype analysis gave inconclusive results.

Feasibility study for a microchip-based approach for noninvasive prenatal diagnosis of genetic diseases.

Fetal DNA in maternal plasma may represent a source of genetic material for prenatal noninvasive diagnosis of genetic diseases. We evaluated a cohort of physiological pregnancies to determine if fetal DNA can be retrieved at any gestational week in sufficient quantity to be analyzed with advanced mutation detection technologies. We performed fetal DNA quantification by real-time polymerase chain reaction (PCR) on the SRY gene in 356 women sampled from 6 to 40 gestational weeks.

Beta-thalassemia microelectronic chip: a fast and accurate method for mutation detection.

Background: beta-Thalassemia is one of the most common genetic diseases in humans. We developed an automated electronic microchip for fast and reliable detection of the nine most frequent mutations accounting for >95% of the beta-thalassemia alleles in the Mediterranean area.

Methods: We developed a microchip-based assay to identify the nine most frequent mutations (cd39C>T, IVS1-110G>A, IVS1-1G>A, IVS1-6T>C, IVS2-745C>G, cd6delA, -87C>G, IVS2-1G>A, and cd8delAA) by use of the Nanogen Workstation.

[Family burden in schizophrenia: effects of socio-environmental and clinical variables and family intervention].

Objective: Description of burden, attitudes and received professional support in a sample of relatives of patients with schizophrenia recruited in 8 Italian Mental Health Services (MHS), stratified by geographic areas and population density.

Design: Cross-sectional study on key-relatives of clinically stable patients with a DSM-IV diagnosis of schizophrenia. Evaluation of: a) relationships of family burden with patient's clinical characteristics, family's socio-demographic variables, relative's attitudes toward the patient, professional and social support received by the family; b) differences in the levels of burden, attitudes and support received by the family with respect to geographical area and population density.

Globin chain synthesis analysis by high performance liquid chromatography in the screening of thalassemia syndromes.

We applied reversed phase high performance liquid chromatography for globin chain synthesis analysis in screening for beta-thalassemia. The alpha/non-alpha-globin chain synthesis ratios have been determined in alpha-, beta-, and deltabeta-thalassemia carriers using the classical carboxymethyl cellulose chromatography as the reference method. Reversed phase high performance liquid chromatography is fast, accurate, and reproducible, and may be a suitable alternative for the traditional carboxymethyl cellulose chromatography.

Temperature-programmed capillary electrophoresis for the analysis of high-melting point mutants in thalassemias.

The behavior of different sieving polymers for unambiguous determination of point mutations in genomic DNA, based on electrophoresis in thin capillaries, is evaluated. High melters from thalassemia patients are separated by exploiting the principle of denaturing gradient gel electrophoresis, in fact, of its variant utilizing temperature gradients (TGGE), along the migration path, encompassing the melting points of both homo- and heteroduplex, polymerase chain reaction (PCR)-amplified DNA fragments. Unlike TGGE, where the temperature gradient exists along the separation space, the denaturing temperature gradient in the fused-silica capillaries is time-programmed, so as to reach the Tm's of all species under analysis prior to electrophoretic transport past the detector window.

Genetic interactions in thalassemia intermedia: analysis of beta-mutations, alpha-genotype, gamma-promoters, and beta-LCR hypersensitive sites 2 and 4 in Italian patients.

In order to verify the genetic factors influencing the clinical expression of beta-thalassemia we have studied 292 Italian patients, 165 with thalassemia intermedia and 127 with thalassemia major. The beta-globin gene mutations were defined in all cases. The number of alpha-globin genes and the integrity of specific control regions of the beta-globin cluster--gamma promoters and beta-Locus Control Region (beta-LCR)--were studied in selected cases.

Homozygous beta-thalassaemia resulting in the beta-thalassaemia carrier state phenotype.

This paper describes the phenotypic manifestations of a very mild beta-thalassaemia mutation detected in several members of two families of Italian descent. The molecular defect, defined by denaturing gradient gel electrophoresis analysis and direct sequencing, consists of a C-->G substitution at position 844 of IVSII of the beta-globin gene within the consensus sequence of the IVSII acceptor splice site. Heterozygotes for this mutation show a haematological phenotype ranging in severity from silent beta-thalassaemia to that of a mild beta-thalassaemia carrier state, whereas homozygotes have the typical manifestations commonly resulting from heterozygosity for a beta-thalassaemia mutation.

Prenatal sex determination from maternal peripheral blood using the polymerase chain reaction.

We have investigated the use of a nested polymerase chain reaction assay for the detection of a fetal-specific Y-chromosomal sequence (DYS14) from DNA extracted from unsorted maternal peripheral blood. Serial dilutions of male DNA into female cord blood DNA indicated that the assay could detect an equivalent of a single male cell in 300,000 female cells. The assay exhibited absolute specificity for male DNA with no amplification from a DNA panel obtained from 10 female cord blood samples.

Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: efficiency, reliability, and risks on 317 completed pregnancies.

Transabdominal chorionic villus sampling (TA-CVS) was attempted in 328 high-risk pregnancies at 6-7 weeks of gestation. Sampling was feasible in 97.7 per cent of cases; chorionic tissue specimens of more than 10 mg were obtained in 94.

Molecular characterization of hemoglobin C in Sicily.

Analysis of polymorphisms of the beta-globin gene cluster was performed on 12 families and on one unrelated individual of Sicilian origin who carried hemoglobin C (Hb C). Two different haplotypes were found in association with beta c Sicilian alleles, corresponding to haplotypes I and II previously described in American blacks. In our population, the more frequent one (haplotype I) was linked to the lack of a polymorphic HpaI site 3' to the beta gene (13.

First-trimester genetic diagnosis in multiple pregnancy: principles and potential pitfalls.

Both the principles of first-trimester genetic diagnosis in multiple pregnancy and the special considerations required to avoid potential diagnostic pitfalls are presented. The experience consisted of 65 cases of twins and one case of quadruplets. Dichorionic twins were recognized by sonography in 54 cases.