Suction use in ureterorenoscopy: A systematic review and meta-analysis of comparative studies.

Objectives: Ureterorenoscopy is seeing a bloom of technological advances, one of which is incorporating suction. The objective of this study is to systematically review existing literature regarding suction use in rigid and flexible ureterorenoscopy and perform meta-analysis of studies comparing suction versus no suction ureteroscopy or mini percutaneous nephrolithotomy (PCNL).

Methods: A literature search was performed (November 2023) in MEDLINE, Embase and Cochrane CENTRAL.

What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?

Mitochondrial disorders are heterogeneous, showing variable presentation and penetrance. Over the last three decades, our ability to recognize mitochondrial patients and diagnose these mutations, linking genotype to phenotype, has greatly improved. However, it has become increasingly clear that these strides in diagnostics have not benefited all population groups.

Outcome following heart transplant assessment in adults with congenital heart disease.

Objectives: Adults with congenital heart disease (ACHD) are a growing group with end-stage heart failure. We aim to describe the outcomes of ACHD patients undergoing assessment for orthotopic heart transplant (OHT).

Methods: Case notes of consecutive ACHD patients (>16 years) assessed for OHT between 2000 and 2016 at our centre were reviewed.

Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints.

Objective: Limb girdle muscular dystrophy type R9 (LGMD R9) is an autosomal recessive muscle disease for which there is currently no causative treatment. The development of putative therapies requires sensitive outcome measures for clinical trials in this slowly progressing condition. This study extends functional assessments and MRI muscle fat fraction measurements in an LGMD R9 cohort across 6 years.

Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD).

Constitutional MisMatch Repair Deficiency (CMMRD) is caused by homozygous or compound heterozygous germline variants in one of the mismatch repair (MMR) genes (MSH2, MSH6, PMS2, MLH1). This syndrome results in early onset colorectal cancer, leukemia and lymphoma, brain tumors and other malignancies. Children with CMMRD are at high risk of developing multiple cancers and cancer surveillance does not guarantee detection of cancer at a curable stage.

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.

Objective: The pathogenic mitochondrial DNA m.3243A>G mutation is associated with a wide range of clinical features, making disease prognosis extremely difficult to predict. We aimed to understand the cause of this heterogeneity.

Cancer risk and survival in carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database.

Background: Most patients with gene variants (Lynch syndrome (LS)) now survive both their first and subsequent cancers, resulting in a growing number of older patients with LS for whom limited information exists with respect to cancer risk and survival.

Objective And Design: This observational, international, multicentre study aimed to determine prospectively observed incidences of cancers and survival in carriers up to 75 years of age.

Results: 3119 patients were followed for a total of 24 475 years.

Kinesin-1 promotes chondrocyte maintenance during skeletal morphogenesis.

During skeletal morphogenesis diverse mechanisms are used to support bone formation. This can be seen in the bones that require a cartilage template for their development. In mammals the cartilage template is removed, but in zebrafish the cartilage template persists and the bone mineralizes around the cartilage scaffold.

Double-outlet right ventricle revisited.

Objectives: Double-outlet right ventricle is a form of ventriculoarterial connection. The definition formulated by the International Society for Nomenclature of Paediatric and Congenital Heart Disease is based on hearts with both arterial trunks supported in their greater part by a morphologically right ventricle. Bilateral infundibula and ventricular septal defects are highly debated criteria.

Left Ventricular Assist Device as a Bridge to Recovery for Patients With Advanced Heart Failure.

Background: Left ventricular assist devices (LVADs) have been used as an effective therapeutic option in patients with advanced heart failure, either as a bridge to transplantation, as destination therapy, or in some patients, as a bridge to recovery.

Objectives: This study evaluated whether patients undergoing an LVAD bridge-to-recovery protocol can achieve cardiac and physical functional capacities equivalent to those of healthy controls.

Methods: Fifty-eight male patients-18 implanted with a continuous-flow LVAD, 16 patients with LVAD explanted (recovered patients), and 24 heart transplant candidates (HTx)-and 97 healthy controls performed a maximal graded cardiopulmonary exercise test with continuous measurements of respiratory gas exchange and noninvasive (rebreathing) hemodynamic data.

A multiple sclerosis-like disorder in patients with OPA1 mutations.

We describe three unrelated patients presenting with a spinal cord syndrome and neuroimaging features consistent with multiple sclerosis (MS). All harbored a pathogenic OPA1 mutation. Although the neurological phenotype resembled neuromyelitis optica (NMO), anti-aquaporin 4 antibodies were not detected and the disorder followed a slow progressive course.

Overexpression of JARID1B promotes differentiation via SHIP1/AKT signaling in human hypopharyngeal squamous cell carcinoma.

Histone H3 (H3K4) demethylase JARID1B is aberrantly upregulated in many types of tumor and has been proposed to function as oncogene. Here we show that JARID1B is elevated in moderate and high-differentiated human hypopharyngeal squamous cell carcinoma (HPSCC) compared with low-differentiated HPSCC. Overexpression of JARID1B in FaDu cells increased epithelial differentiation marker K10 expression and inhibited cell proliferation.

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database.

Objective: Today most patients with Lynch syndrome (LS) survive their first cancer. There is limited information on the incidences and outcome of subsequent cancers. The present study addresses three questions: (i) what is the cumulative incidence of a subsequent cancer; (ii) in which organs do subsequent cancers occur; and (iii) what is the survival following these cancers?

Design: Information was collated on prospectively organised surveillance and prospectively observed outcomes in patients with LS who had cancer prior to inclusion and analysed by age, gender and genetic variants.

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database.

Objective: Estimates of cancer risk and the effects of surveillance in Lynch syndrome have been subject to bias, partly through reliance on retrospective studies. We sought to establish more robust estimates in patients undergoing prospective cancer surveillance.

Design: We undertook a multicentre study of patients carrying Lynch syndrome-associated mutations affecting , , or .

A national specialized service in England for atypical haemolytic uraemic syndrome-the first year's experience.

Background: In 2013 NHS England commissioned the use of eculizumab for both new patients with atypical haemolytic uraemic syndrome (aHUS) and those undergoing transplantation. This national service is delivered locally but coordinated by an expert centre at the Newcastle upon Tyne Hospitals NHS Foundation Trust.

Results: In the first year of service, 43 aHUS patients received eculizumab, 15 children and 28 adults.

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of 10,088 classes (terms) describing human phenotypic abnormalities and 13,326 subclass relations between the HPO classes.