Muscle Contractility in Hypokalemic Periodic Paralysis.

Introduction/aims: Primary hypokalemic periodic paralysis (HypoPP) can present with periodic paralysis and/or permanent muscle weakness. Permanent weakness is accompanied by fat replacement of the muscle. It is unknown whether the permanent muscle weakness is solely due to fat replacement or if other factors affect the ability of the remaining muscle fibers to contract.

Participation and relative cost of attendance by direct-mail compared to opt-in invitation strategy for HPV self-sampling targeting cervical screening non-attenders: A large-scale, randomized, pragmatic study.

Broad accessibility to cervical cancer screening and high participation rate is essential to reduce cervical cancer incidence. HPV self-sampling is an alternative to clinician collected cervical samples to increase accessibility and screening coverage. To inform on deployment strategies of HPV self-sampling, this large-scale, randomized, pragmatic study compared two invitation modalities; direct-mail and opt-in.

Glucose Control During Labour and Delivery in Type 1 Diabetes - An Update on Current Evidence.

Purpose Of Review: To provide an update on diabetes management during labour and delivery in women with type 1 diabetes with focus on appropriate insulin administration, carbohydrate supply and use of diabetes technology to support safe delivery and neonatal well-being.

Recent Findings: During active labour and elective cesarean section capillary blood glucose monitoring or continuous glucose monitoring at least hourly is recommended. Infusion with isotonic (5%) glucose can be given with adjustable infusion rate to address maternal carbohydrate requirements and to prevent maternal hypoglycemia.

Vcfexpress: flexible, rapid user-expressions to filter and format VCFs.

Motivation: Variant Call Format (VCF) files are the standard output format for various software tools that identify genetic variation from DNA sequencing experiments. Downstream analyses require the ability to query, filter, and modify them simply and efficiently. Several tools are available to perform these operations from the command line, including BCFTools, vembrane, slivar, and others.

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Cardiac arrest (CA) survivorship is associated with risk of cognitive deficits, emotional and social consequences. Early recognition of these symptoms and referral to rehabilitation is considered to be the fifth link in the chain of survival. This review highlights the need for a national standardized care plan for CA survivors based on a multidisciplinary approach.

Postoperative Exercise Training in Patients with Colorectal Liver Metastases A Randomized Controlled Trial.

Background: Postoperative morbidity can reduce quality of life, physical performance, and tolerability of postoperative chemotherapy in patients with colorectal liver metastases (CRLM). Exercise can improve these outcomes in some cancer populations. However, it remains unknown whether exercise can be delivered in the early postoperative period following surgery for CRLM without increasing the risk of harms.

Effects of caloric restriction with different doses of exercise on fat loss in people living with type 2 diabetes: A secondary analysis of the DOSE-EX randomized clinical trial.

Background: Fat loss mainly conveys the benefits of caloric restriction for people living with type 2 diabetes. The literature is equivocal regarding whether exercise facilitates fat loss during caloric restriction. This analysis aimed to assess the dose-response effects of exercise in combination with a caloric restriction on fat mass (FM) and FM percentage (FM %) in persons with diagnosed type 2 diabetes.

Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome.

Introduction: Xia-Gibbs syndrome (XGS) is a rare syndromic disorder characterized by developmental delay with intellectual disability, muscular hypotonia, brain anomalies, and nonspecific dysmorphic features. Different heterozygous variants in have been reported as causal for XGS, comprising mainly stop-gain and frameshift events, but also missense variants, deletions, and a duplication of the locus.

Case Presentation: We hereby report 2 patients with clinical features of XGS.

Inter-fraction motion robustness in a prospective phase II trial on dose-escalated proton reirradiation for locally recurrent rectal cancer.

Background And Purpose: Intensity modulated proton therapy (IMPT) enables generation of conformal dose plans with organ at risk (OAR) sparing potential. However, pelvic IMPT robustness is challenged by inter-fraction motion caused by constant anatomical variations. In this study, the dosimetric impact of inter-fraction motion on target coverage and dose to OAR was quantified in the prospective phase II study ReRad-II on dose-escalated proton reirradiation for locally recurrent rectal cancer (LRRC).

Impact of a 12-week high-intensity interval training intervention on cardiac structure and function after COVID-19 at 12-month follow-up.

In patients previously hospitalised for COVID-19, a 12-week high-intensity interval training (HIIT) intervention has previously been shown to increase left ventricular mass (LVM) immediately after the intervention. In the present study, we examined the effects of the same HIIT scheme on LVM, pulmonary diffusing capacity, symptom severity and functional capacity at 12-month follow-up. In this investigator-blinded, randomised controlled trial, 12 weeks of a supervised HIIT scheme (4 × 4 min, three times a week) was compared to standard care (control) in patients recently discharged from hospital due to COVID-19.

Transport of herbicides by PIN-FORMED auxin transporters.

Auxins are a group of phytohormones that control plant growth and development . Their crucial role in plant physiology has inspired development of potent synthetic auxins that can be used as herbicides . Phenoxyacetic acid derivatives are a widely used group of auxin herbicides in agriculture and research.

Long-Term Oxygen Therapy for 24 or 15 Hours per Day in Severe Hypoxemia.

Background: Long-term oxygen supplementation for at least 15 hours per day prolongs survival among patients with severe hypoxemia. On the basis of a nonrandomized comparison, long-term oxygen therapy has been recommended to be used for 24 hours per day, a more burdensome regimen.

Methods: To test the hypothesis that long-term oxygen therapy used for 24 hours per day does not result in a lower risk of hospitalization or death at 1 year than therapy for 15 hours per day, we conducted a multicenter, registry-based, randomized, controlled trial involving patients who were starting oxygen therapy for chronic, severe hypoxemia at rest.

Single-cell RNA sequencing reveals melanoma cell state-dependent heterogeneity of response to MAPK inhibitors.

Background: Melanoma is a heterogeneous cancer influenced by the plasticity of melanoma cells and their dynamic adaptations to microenvironmental cues. Melanoma cells transition between well-defined transcriptional cell states that impact treatment response and resistance.

Methods: In this study, we applied single-cell RNA sequencing to interrogate the molecular features of immunotherapy-naive and immunotherapy-resistant melanoma tumours in response to ex vivo BRAF/MEK inhibitor treatment.

Identification of as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in .

Loss of function mutations in the X-linked gene lead to PIGA-CDG, an ultra-rare congenital disorder of glycosylation (CDG), typically presenting with seizures, hypotonia, and neurodevelopmental delay. We identified two brothers (probands) with PIGA-CDG, presenting with epilepsy and mild developmental delay. Both probands carry , an ultra-rare variant predicted to be damaging.

[O]HO PET/MRI for Assessment of Complete Response to Neoadjuvant or Induction Chemotherapy in Patients with Muscle-Invasive Bladder Cancer: A Pilot Study.

Accurate assessment of therapy response to chemotherapy could possibly offer a bladder-sparing approach in selected patients with localized muscle-invasive bladder cancer (MIBC). The aim of this study was to evaluate whether [O]HO PET/MRI can be used for assessment of complete local pathological response to preoperative chemotherapy in patients with MIBC. This prospective pilot study included 13 patients with MIBC treated with neoadjuvant or induction chemotherapy and subsequent radical cystectomy.

Metabolic specialization drives reduced pathogenicity in Pseudomonas aeruginosa isolates from cystic fibrosis patients.

Metabolism provides the foundation for all cellular functions. During persistent infections, in adapted pathogenic bacteria metabolism functions radically differently compared with more naïve strains. Whether this is simply a necessary accommodation to the persistence phenotype or if metabolism plays a direct role in achieving persistence in the host is still unclear.

A familial, telomere-to-telomere reference for human mutation and recombination from a four-generation pedigree.

Using five complementary short- and long-read sequencing technologies, we phased and assembled >95% of each diploid human genome in a four-generation, 28-member family (CEPH 1463) allowing us to systematically assess mutations (DNMs) and recombination. From this family, we estimate an average of 192 DNMs per generation, including 75.5 single-nucleotide variants (SNVs), 7.

TRGT-denovo: accurate detection of tandem repeat mutations.

Motivation: Identifying tandem repeat (TR) mutations on a genome-wide scale is essential for understanding genetic variability and its implications in rare diseases. While PacBio HiFi sequencing data enhances the accessibility of the genome's TR regions for genotyping, simple calling strategies often generate an excess of likely false positives, which can obscure true positive findings, particularly as the number of surveyed genomic regions increases.

Results: We developed TRGT-denovo, a computational method designed to accurately identify all types of TR mutations-including expansions, contractions, and compositional changes-within family trios.

Cervical cancer screening integrated in routine clinical care of women with HIV.

Objective: To evaluate if integrated cervical cancer screening (CCS) for women with HIV (WWH) in routine HIV care resulted in increased adherence to screening, and to describe the prevalence of human papillomavirus (HPV)-specific genotypes and the incidence of cellular abnormalities.

Design: Cohort study.

Methods: WWH who accepted the offer of combined CCS and HIV care (group 1), WWH who declined the offer (group 2), and WWH not offered CCS within HIV care (group 3) between 2013 and 2019 were included.

Quality of life in hypokalemic periodic paralysis - a survey.

Primary hypokalemic periodic paralysis (HypoPP) is a skeletal muscle channelopathy most commonly caused by pathogenic variants in the calcium channel gene, CACNA1S. HypoPP can present with attacks of paralysis and/or permanent muscle weakness. Previous studies have shown that patients with HypoPP can have impaired quality of life (QoL).