Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.

The AGBL5 gene encodes for the Cytoplasmic Carboxypeptidase 5 (CCP5), an α-tubulin deglutamylase that cleaves the γ-carboxyl-linked branching point of glutamylated tubulin. To date, pathogenic variants in AGBL5 have been associated only with isolated retinitis pigmentosa (RP). Hearing loss has not been reported in AGBL5-caused retinal disease.

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.

Genome analysis of individuals affected by retinitis pigmentosa (RP) identified two rare nucleotide substitutions at the same genomic location on chromosome 11 (g.61392563 [GRCh38]), 69 base pairs upstream of the start codon of the ciliopathy gene TMEM216 (c.-69G>A, c.

Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.

Copy-number variants (CNVs) play a substantial role in the molecular pathogenesis of hereditary disease and cancer, as well as in normal human interindividual variation. However, they are still rather difficult to identify in mainstream sequencing projects, especially involving exome sequencing, because they often occur in DNA regions that are not targeted for analysis. To overcome this problem, we developed OFF-PEAK, a user-friendly CNV detection tool that builds on a denoising approach and the use of "off-target" DNA reads, which are usually discarded by sequencing pipelines.

GNB1-Related Rod-Cone Dystrophy: A Case Report.

Introduction: The (guanine nucleotide-binding protein, β1) gene encodes for the ubiquitous β1 subunit of heterotrimeric G proteins, which are associated with G-protein-coupled receptors (GPCRs). mutations cause a neurodevelopmental disorder characterized by a broad clinical spectrum. A novel variant has recently been confirmed in a case of rod-cone dystrophy.

The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes.

Background: Although the p.C759F (c.2276G>T, p.

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.

Inherited retinal diseases (IRDs) are a group of ocular conditions characterized by an elevated genetic and clinical heterogeneity. They are transmitted almost invariantly as monogenic traits. However, with more than 280 disease genes identified so far, association of clinical phenotypes with genotypes can be very challenging, and molecular diagnosis is essential for genetic counseling and correct management of the disease.

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.

The aim of this study was to investigate coenzyme Q10 (CoQ) biosynthesis pathway defects in inherited retinal dystrophy. Individuals affected by inherited retinal dystrophy (IRD) underwent exome or genome sequencing for molecular diagnosis of their condition. Following negative IRD gene panel analysis, patients carrying biallelic variants in CoQ biosynthesis pathway genes were identified.

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.

The purpose of this paper is to identify likely pathogenic non-coding variants in inherited retinal dystrophy (IRD) genes, using genome sequencing (GS). Patients with IRD were recruited to the study and underwent comprehensive ophthalmological evaluation and GS. The results of GS were investigated through virtual gene panel analysis, and plausible pathogenic variants and clinical phenotype evaluated by the multidisciplinary team (MDT) discussion.

Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.

Inherited retinal dystrophies (IRDs) constitute one of the most heterogeneous groups of Mendelian human disorders. Using autozygome-guided next-generation sequencing methods in 17 consanguineous pedigrees of Iranian descent with isolated or syndromic IRD, we identified 17 distinct genomic variants in 11 previously-reported disease genes. Consistent with a recessive inheritance pattern, as suggested by pedigrees, variants discovered in our study were exclusively bi-allelic and mostly in a homozygous state (in 15 families out of 17, or 88%).

Effects of a phyto complex on well-being of climacteric women.

Aim: The aim of this study was to assess the effects of a phyto complex on menopausal symptoms.

Material And Methods: A total of 151 women aged 42-67 years were enrolled. They were in spontaneous or surgical menopause by at least 12 months, reporting symptoms referable to the climacteric syndrome.

[Protection of working mothers: operational guide document. The Marche Regional Section of the Italian Society of Occupational Health and Industrial Hygiene (SIMLII) ].

Protection of working mothers: operational guide document. The aim of this operational guide document is to protect the health of working mothers and their babies during pregnancy, puerperium and breastfeeding. The project was developed by a technical working group which included professionals in the pertinent fields from the Workplace Prevention and Safety Services of the local Vasta-2 Area of the Marche Regional Health Service:physicians, health assistants, and nurses.

Subarachnoid fluid lactate and paraplegia after descending aorta aneurysmectomy: two compared case reports.

We report a comparison of two cases regarding subjects who underwent thoracoabdominal aorta aneurysmectomy. During the procedure we monitored cerebrospinal fluid lactate concentration. One patient experienced postoperative paraplegia and his cerebrospinal fluid lactate concentration was much higher than that in the other case, whose postoperative outcome was uneventful.

Prognosis and treatment of pancreaticoduodenal traumatic injuries: which factors are predictors of outcome?

Background/purpose: Abdominal trauma rarely causes injuries involving the duodenum and pancreas. Associated injuries occur in 46% of all pancreatic injuries. The morbidity and mortality of pancreaticoduodenal injuries remain high.

Cerebral oximetry during carotid clamping: is blood pressure raising necessary?

Background: Carotid endarterectomy is subject to a significant risk of intraoperative stroke. Anesthetic management of patients must provide optimal monitoring of cerebral blood perfusion to establish whether intraluminal carotid shunting is necessary. Cerebral oximetry (regional cerebral oxygen saturation, rSO2) measurement can ascertain whether brain perfusion is adequate.

Efficacy of genistein aglycone on some cardiovascular risk factors and homocysteine levels: A follow-up study.

Background And Aim: Recent evidence suggests that genistein aglycone may act beneficially on surrogate cardiovascular risk markers in postmenopausal women. We assessed the effects of genistein aglycone on some cardiovascular risk factors and homocysteine levels after 3-years of continued therapy in a cohort of osteopenic, postmenopausal women.

Methods And Results: The parent study was a randomized, double-blind, placebo-controlled trial involving 389 postmenopausal women with low bone mass for 24 months.

Training resident anesthesiologists in adult challenging intubation comparing Truview EVO2 and Macintosh laryngoscope: a preliminary study.

Aim: Teaching airway management continues to be of high importance to the anesthesiologist, since the care of each individual patient depends on the expertise, training and knowledge of the anesthetist with different airway devices, techniques and algorithms. The aim of our study was to compare intubation performed by resident anesthesiologists in training, under senior supervision, using Truview EVO2 (Group 1) or Macintosh blade (Group 2) in a group of adult patients undergoing elective surgery.

Methods: This was a pilot prospective study.

[Penetrating abdominal trauma: 20 years experience in a Western European Trauma Center].

Background: The incidence of penetrating abdominal trauma in Western Europe is low. While non-operative management of blunt trauma has become the gold standard, the management of penetrating trauma is still controversial. Nonoperative management (NOM) and laparoscopy are currently used in selected patients, reducing the rate of unnecessary laparotomy.

Positive end-expiratory pressure during infrarenal aortic clamping limits hemodynamic impairment risk.

Background: Aortic clamping and unclamping abruptly impact hemodynamic assessment. First, vascular resistance and venous blood return increase, causing a cardiac stress; second, when the clamp has been replaced, vascular resistance falls and hypotension with low perfusion pressure risk occurs. We hypothesized that positive end-expiratory pressure (PEEP) during clamping could limit hemodynamic alterations, then its zeroing just before unclamping could guarantee a more stable blood pressure after restoring total circulation.

Effects of the phytoestrogen genistein on hot flushes, endometrium, and vaginal epithelium in postmenopausal women: a 2-year randomized, double-blind, placebo-controlled study.

Objective: To evaluate in a 24-month, prospective, randomized, double-blind, placebo-controlled study whether pure administration of the phytoestrogen genistein (54 mg/d) might reduce the number and severity of hot flushes in postmenopausal women, with no adverse effect on the endometrium and vagina.

Methods: A total of 389 participants met the parent study criteria and were randomly assigned to receive the phytoestrogen genistein (n = 198) or placebo (n = 191). About 40% of participants in both groups did not experience hot flushes, and the evaluation was performed in a subgroup of 236 participants (genistein, n = 119; placebo, n = 117).

Breast safety and efficacy of genistein aglycone for postmenopausal bone loss: a follow-up study.

Context: Genistein aglycone improves bone metabolism in women. However, questions about the long-term safety of genistein on breast as well as its continued efficacy still remain.

Objective: We assessed the continued safety profile of genistein aglycone on breast and endometrium and its effects on bone after 3 yr of therapy.

Body composition estimated by bioimpedance analysis in Sicilian climacteric women.

Aim: The aim of this study was to evaluate the effects of menopause transition on body weight, and body composition in a Sicilian climacteric population.

Methods: Two hundred and nine (60 pre- and one 149 postmenopausal) untreated, healthy women were selected. Body composition was estimated by BIA101 of AKERN SRL.

OPG and sRANKL serum concentrations in osteopenic, postmenopausal women after 2-year genistein administration.

Introduction: RANKL and its decoy receptor osteoprotegerin (OPG) constitute a complex physiological mediator system involved in the regulation of bone resorption and may be responsible for the homeostatic mechanism of normal bone remodeling. Genistein, an isoflavone representing 1-5% of total phytoestrogen content in soybean products, may positively regulate cellular bone metabolism, but its mechanism of action on bone is not yet fully understood.

Materials And Methods: We studied the serum levels of both soluble RANKL (sRANKL) and OPG and the sRANKL/OPG ratio in 389 postmenopausal women (age, 49-67 yr) with a femoral neck BMD <0.

Effects of the phytoestrogen genistein on some predictors of cardiovascular risk in osteopenic, postmenopausal women: a two-year randomized, double-blind, placebo-controlled study.

Context: Genistein, a soy isoflavone, has received wide attention over the last few years because of its potential preventive role for cardiovascular disease.

Objective: Our objective was to assess the effects of genistein administration (54 mg/d) on some predictors of cardiovascular risk in osteopenic, postmenopausal women.

Design And Setting: We conducted a randomized, double-blind, placebo-controlled trial at three Italian university medical centers.