Genitourinary Lesions Due to Monkeypox.

Background: Since May 2022, 31 000 cases of monkeypox infection have been reported in nonendemic areas.

Objective: To describe a series of cases of monkeypox with genitourinary involvement.

Design, Setting, And Participants: This was a prospective observational study of men diagnosed with monkeypox disease with genitourinary involvement.

Efficacy, tolerance and predictors of response to the treatment with hyperbaric oxygen therapy for patients with hemorrhagic radiation cystitis.

Objectives: The aim was to study the efficacy and tolerance in patients with haemorrhagic radiation-induced cystitis (HRC) treated with hyperbaric oxygen therapy (HOT) and analyze which factors were related to the response to the treatment.

Material And Methods: We performed a retrospective cohort study of patients treated with HOT for HRC symptoms in a provincial referral centre from 2010 to 2020. We evaluated clinical response to treatment, number of hospitalizations due to HRC and subjective response using the PGI-I questionnaire.

Ewing-like sarcoma bladder primary tumour: A case report and literature review.

Bladder primitive neuroectodermal tumors are extremely rare but are most frequent in older adult. 59-year-old man that complained of hematuria for the previous 24 h, urethral syndrome, and pain in the right renal fossa over the previous two weeks. No definitive management or treatment guidelines have been established.

Mortality prediction models after radical cystectomy for bladder tumour: A systematic review and critical appraisal.

Introduction: To identify risk-predictive models for bladder-specific cancer mortality in patients undergoing radical cystectomy and assess their clinical utility and risk of bias.

Methods: Systematic review (CRD42021224626:PROSPERO) in Medline and EMBASE (from their creation until 31/10/2021) was screened to include articles focused on the development and internal validation of a predictive model of specific cancer mortality in patients undergoing radical cystectomy. CHecklist for critical Appraisal and data extraction for systematic Reviews of prediction Modelling Studies (CHARMS) and Prediction model Risk Of Bias ASsessment Tool (PROBAST) were applied.

Transurethral Drainage of Prostatic Abscess Using 120 W Holmium Laser Technology.

Prostatic abscess is an infrequent but serious pathology that could be treated by ultrasound-guided puncture, transurethral resection, or open surgery. We present a case of a 72-year-old male with a 3x5 cm prostatic abscess in the right lobe showed in abdominal computed tomography (CT). In the blood test, he presented coagulopathy.

High-flow priapism in pediatric population: Case series and review of the literature.

Introduction: Priapism is a prolonged erection that lasts longer than four hours. It is a rare pathology in the pediatric population, with an estimation of 0.3-1.

High-flow Priapism in Pediatric Population: Case Series and Review of the Literature.

Introduction: Priapism is a prolonged erection that lasts longer than four hours. It is a rare pathology in the pediatric population, with an estimation of 0.3-1.

Molecular mechanisms of β-cell dysfunction and death in monogenic forms of diabetes.

Monogenetic forms of diabetes represent 1%-5% of all diabetes cases and are caused by mutations in a single gene. These mutations, that affect genes involved in pancreatic β-cell development, function and survival, or insulin regulation, may be dominant or recessive, inherited or de novo. Most patients with monogenic diabetes are very commonly misdiagnosed as having type 1 or type 2 diabetes.

[Metabolic alterations and stones in patients with orthotopic ileal diversions. Case description.].

Bacterial presence, anatomic anomalies and metabolic alterations increase the risk of stone formation in patients with neobladders. These patients sometimes require medical or surgical procedures. The aim of the current work is to analyze those alterations and medical treatment associated to it.

[Androgen deprivation therapy in advanced prostate cancer. Multicenter study.].

Objectives: Advanced prostate cancer (PC) is a frequent entity. The objectives of this paper are the presentation of a sample of patients with PC undergoing treatment with androgen deprivation therapy (ADT) in usual clinical practice and the determination of parameters associated with the development of resistance to castration (CRPC).

Material And Methods: Multicenter, observational, retrospective study that analyzes patients treated with ADT from January 2016 to January 2017.

TMEM70 functions in the assembly of complexes I and V.

Protein complexes from the oxidative phosphorylation (OXPHOS) system are assembled with the help of proteins called assembly factors. We here delineate the function of the inner mitochondrial membrane protein TMEM70, in which mutations have been linked to OXPHOS deficiencies, using a combination of BioID, complexome profiling and coevolution analyses. TMEM70 interacts with complex I and V and for both complexes the loss of TMEM70 results in the accumulation of an assembly intermediate followed by a reduction of the next assembly intermediate in the pathway.

A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant.

We demonstrate that a heterozygous nuclear variant in the gene encoding mitochondrial complex I subunit NDUFV1 aggravates the cellular phenotype in the presence of a mitochondrial DNA variant in complex I subunit ND1. Our findings suggest that heterozygous variants could be more significant in inherited mitochondrial diseases than hitherto assumed.

NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.

Mitochondrial respiratory chain complex I consists of 44 different subunits and can be subgrouped into three functional modules: the Q-, the P- and the N-module. NDUFAF4 (C6ORF66) is an assembly factor of complex I that associates with assembly intermediates of the Q-module. Via exome sequencing, we identified a homozygous missense variant in a complex I-deficient patient with Leigh syndrome.

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.

Mitochondrial respiratory chain complex I consists of 44 different subunits and contains 3 functional modules: the Q-, the N- and the P-module. NDUFA9 is a Q-module subunit required for complex I assembly or stability. However, its role in complex I biogenesis has not been studied in patient fibroblasts.

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.

COX5A is a nuclear-encoded subunit of mitochondrial respiratory chain complex IV (cytochrome c oxidase). We present patients with a homozygous pathogenic variant in the COX5A gene. Clinical details of two affected siblings suffering from early-onset pulmonary arterial hypertension, lactic acidemia, failure to thrive, and isolated complex IV deficiency are presented.

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.

NDUFAF3 is an assembly factor of mitochondrial respiratory chain complex I. Variants in NDUFAF3 have been identified as a cause of severe multisystem mitochondrial disease. In a patient presenting with Leigh syndrome, which has hitherto not been described as a clinical feature of NDUFAF3 deficiency, we identified a novel homozygous variant and confirmed its pathogenicity in patient fibroblasts studies.

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.

Mitochondrial complex I deficiency results in a plethora of often severe clinical phenotypes manifesting in early childhood. Here, we report on three complex-I-deficient adult subjects with relatively mild clinical symptoms, including isolated, progressive exercise-induced myalgia and exercise intolerance but with normal later development. Exome sequencing and targeted exome sequencing revealed compound-heterozygous mutations in TMEM126B, encoding a complex I assembly factor.

Unraveling the complexity of mitochondrial complex I assembly: A dynamic process.

Mammalian complex I is composed of 44 different subunits and its assembly requires at least 13 specific assembly factors. Proper function of the mitochondrial respiratory chain enzyme is of crucial importance for cell survival due to its major participation in energy production and cell signaling. Complex I assembly depends on the coordination of several crucial processes that need to be tightly interconnected and orchestrated by a number of assembly factors.

Cell survival during complete nutrient deprivation depends on lipid droplet-fueled β-oxidation of fatty acids.

Cells exposed to stress of different origins synthesize triacylglycerols and generate lipid droplets (LD), but the physiological relevance of this response is uncertain. Using complete nutrient deprivation of cells in culture as a simple model of stress, we have addressed whether LD biogenesis has a protective role in cells committed to die. Complete nutrient deprivation induced the biogenesis of LD in human LN18 glioblastoma and HeLa cells and also in CHO and rat primary astrocytes.