Hospital Context Determinants of Variability in Healthcare-Associated Infection Prevalence: Multi-Level Analysis.

Healthcare-associated infections (HAIs) represent a major challenge in patient safety that affects services disproportionally. This paper aimed to assess how the HAI prevalence varies between hospital services and what contextual characteristics may explain such variance. A cross-sectional study was conducted on adult patients in Portuguese hospitals, using data from the European point prevalence survey of HAI prevalence.

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Objective: The objective of this study was to evaluate the implementation of NGS within the French mitochondrial network, MitoDiag, from targeted gene panels to whole exome sequencing (WES) or whole genome sequencing (WGS) focusing on mitochondrial nuclear-encoded genes.

Methods: Over 2000 patients suspected of Primary Mitochondrial Diseases (PMD) were sequenced by either targeted gene panels, WES or WGS within MitoDiag. We described the clinical, biochemical, and molecular data of 397 genetically confirmed patients, comprising 294 children and 103 adults, carrying pathogenic or likely pathogenic variants in nuclear-encoded genes.

Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. While biallelic variants affecting IFT140 are responsible for Mainzer-Saldino syndrome (characterized by severe ciliopathy causing skeletal abnormalities, kidney disease, and cysts), monoallelic loss-of-function (LoF) variants have been recently reported as an important cause of ADPKD beyond PKD1/2 genes. Herein, we report 6 non-family-related cases of monoallelic IFT140 LoF variants, identified from 1,340 exomes sequenced for nephrological indications in our local database.

Surveillance of surgical site infection after colorectal surgery: comprehensiveness and impact of risk factors.

Objective: The incidence of surgical site infection (SSI) is highest after colorectal surgery. We assessed the impact of risk factors for SSI using the population attributable fraction (PAF).

Design: Retrospective cohort study.

Exome-First Strategy in Adult Patients With CKD: A Cohort Study.

Introduction: Exome sequencing (ES) has widened the field of nephrogenomics in adult nephrology. In addition to reporting the diagnostic yield of ES in an adult cohort study, we investigated the clinical implications of molecular diagnosis and developed a clinical score to predict the probability of obtaining positive result.

Methods: From September 2018 we have used ES to prospectively perform a first-tier liberal exploration of adult nephropathies of unknown origin and/or when a genetic kidney disease was clinically suggested.

Hospital context in surgical site infection following colorectal surgery: a multi-level logistic regression analysis.

Background: Surgical site infections (SSIs) are associated with poor health outcomes. Their incidence is highest after colorectal surgery, with little improvement in recent years. The role of hospital characteristics is undetermined.

Mutational Characteristics of Primary Mucosal Melanoma: A Systematic Review.

Background: Primary mucosal melanomas (PMMs) are rare and clinically heterogeneous, including head and neck (HNMs), vulvovaginal (VVMs), conjunctival (CjMs), anorectal (ARMs) and penile (PMs) melanomas. While the prognosis of advanced cutaneous melanoma has noticeably improved using treatments with immune checkpoint inhibitors (ICIs) and molecules targeting BRAF and MEK, few advances have been made for PMMs because of their poorer response to ICIs and their different genetic profile. This prompted us to conduct a systematic review of molecular studies of PMMs to clarify their pathogenesis and potential therapeutic targets.

Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings.

Prolidase deficiency (PD) is a rare autosomal recessive genodermatosis with variable clinical manifestations. It results from a mutation in the peptidase-D gene that leads to abnormal activity of the prolidase enzyme, an important player in collagen catabolism. The authors report the case of two siblings presenting with dysmorphic features, disturbed blood panel, and recalcitrant leg ulcerations of several years' duration.

Disseminated fungal infection in a patient with acute myeloid leukemia.

The case highlights the importance of actively obtaining informative samples at an early stage and of prompt initiation of combination therapy with antifungal drugs.

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

Objective: We aimed to delineate the phenotypic spectrum and long-term outcome of individuals with KCNB1 encephalopathy.

Methods: We collected genetic, clinical, electroencephalographic, and imaging data of individuals with KCNB1 pathogenic variants recruited through an international collaboration, with the support of the family association "KCNB1 France." Patients were classified as having developmental and epileptic encephalopathy (DEE) or developmental encephalopathy (DE).

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

De novo pathogenic variants in the GATAD2B gene have been associated with a syndromic neurodevelopmental disorder (GAND) characterized by severe intellectual disability (ID), impaired speech, childhood hypotonia, and dysmorphic features. Since its first description in 2013, nine patients have been reported in case reports and a series of 50 patients was recently published, which is consistent with the relative frequency of GATAD2B pathogenic variants in public databases. We report the detailed phenotype of 19 patients from various ethnic backgrounds with confirmed pathogenic GATAD2B variants including intragenic deletions.

[Consensus on HPV of the Portuguese Society of Andrology, Sexual Medicine and Reproduction: Treatment].

The treatment of condyloma is generally a challenge in clinical practice. Although the spontaneous resolution rate is high, a significant proportion of patients seek treatment, not because of symptomatology, but mainly for aesthetic issues and concerns related to the transmission or worsening of existing lesions. The available treatments should be applied only for clinically evident macroscopic lesions.

Association between contraceptive method chosen after induced abortion and incidence of repeat abortion in Northern Portugal.

Objectives: In Portugal, a country with strong Catholic roots, elective termination of pregnancy at women's request is still stigmatised, especially if it is a repeat abortion. The objectives of this study were to determine the incidence of repeat abortion, taking into account the contraceptive method chosen after the index abortion event, and characterise the risk factors for repeat abortion.

Methods: This was a retrospective cohort study of 988 women who requested termination of pregnancy during 2015 in a Portuguese tertiary care public hospital.

Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations.

Objective: While the most frequent mutation responsible for mitochondrial diabetes is the point mutation m.3243 A>G of mitochondrial DNA (mtDNA), few data are available about the role of rare mtDNA mutations in the pathophysiology of diabetes. The main objective of our study was to describe the phenotypic characteristics of patients suffering from diabetes linked to rare mtDNA mutations.