Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project.

Congenital heart disease (CHD) describes a structural cardiac defect present from birth. A cohort of participants recruited to the 100,000 Genomes Project (100 kGP) with syndromic CHD (286 probands) and familial CHD (262 probands) were identified. "Tiering" following genome sequencing data analysis prioritised variants in gene panels linked to participant phenotype.

Real-world experience with glucagon-like peptide 2 analogues in patients with short bowel syndrome and chronic intestinal failure: Results from an international survey in expert intestinal failure centers.

Background And Aims: Glucagon-like peptide 2 (GLP-2) analogues are the first available disease-modifying treatments for patients with intestinal failure (IF) due to short bowel syndrome (SBS). Efficacy in terms of reduction of parenteral support (PS) has been demonstrated in multiple studies and real-world reports. However, it remains unclear how many patients are eligible to receive the treatment, when treatment is started after intestinal resection, how treatment efficacy is assessed outside of clinical trials, and how the treatment is modified in case of non-response or adverse events.

Parenteral fish oil lipid emulsion use in adults: a case series and review from an intestinal failure referral center.

Background: Intestinal failure-associated liver disease (IFALD) is a complication of long-term PN use, attributed to the use of ω-6 injectable lipid emulsions (ILE). Fish oil (FO) ILE have been successful in reversing liver injury in neonates. Evidence for pure FO ILE use in adult patients is limited.

Celiac Disease, Gluten Sensitivity, and Diet Management.

Purpose Of Review: Celiac disease is a common chronic inflammatory condition of the small bowel triggered by gluten in wheat, rye and barley in the diet. Non-celiac gluten sensitivity presents with symptoms similar to celiac disease with the ingestion of gluten or other components of wheat. In this article, we review challenges presented by a gluten free diet for the treatment of both disorders.

Outcomes of parenteral nutrition in patients with advanced cancer and malignant bowel obstruction.

Background: Malignant bowel obstruction (MBO) affects 3% to 15% of all cancer patients. In patients with advanced cancer and inoperable MBO, the average survival varies between four to nine weeks. Parenteral nutrition (PN) may improve survival in specific patient populations with malignant bowel obstruction.

Biallelic loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects.

Homozygous plakophilin-2 () variants have been identified as a cause of a lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET) in three cases. We report three more cases from two families with homozygous pathogenic variants and perinatal-onset, lethal DCM-ET. Identification of the genetic abnormalities played a key role in decision-making and family counselling in these cases.

Outcomes of parenteral nutrition in patients with advanced cancer and malignant bowel obstruction.

Background: Malignant bowel obstruction (MBO) affects 3-15% of all cancer patients. In patients with advanced cancer and inoperable MBO, the average survival varies between four to nine weeks. Parenteral nutrition (PN) may improve survival in specific patient populations with malignant bowel obstruction.

Exploring Calcium Manganese Oxide as a Promising Cathode Material for Calcium-Ion Batteries.

The dependence on lithium for the energy needs of the world, coupled with its scarcity, has prompted the exploration of postlithium alternatives. Calcium-ion batteries are one such possible alternative owing to their high energy density, similar reduction potential, and naturally higher abundance. A critical gap in calcium-ion batteries is the lack of suitable cathodes for intercalating calcium at high voltages and capacities while also maintaining structural stability.

Prenatal diagnosis of CLCN4-related neurodevelopmental disorder in fetuses with congenital brain anomalies.

We report two male fetuses born to a healthy unrelated couple, with agenesis of the corpus callosum identified on detailed 20-week ultrasound scans and confirmed by in-utero MRI. Whole-genome sequencing identified a likely pathogenic missense variant in the CLCN4 gene, establishing this as the causative gene in the family. Pathogenic variants in the CLCN4 gene cause a neurodevelopmental disorder (also called Raynaud-Claes syndrome) inherited in an X-linked pattern.

Real-World Management of High Stool Output in Patients with Short Bowel Syndrome: An International Multicenter Survey.

Background: International practice guidelines for high-stool-output (HSO) management in short bowel syndrome (SBS) are available, but data on implementation are lacking. This study describes the approach used to manage HSO in SBS patients across different global regions.

Methods: This is an international multicenter study evaluating medical management of HSO in SBS patients using a questionnaire survey.

Fetal hydrops caused by a novel pathogenic MECOM variant.

We report a fetus with hydrops, congenital heart disease and bilateral radioulnar synostosis caused by a novel pathogenic MECOM variant. The female fetus was referred for post-mortem examination after fetal hydrops and intrauterine death was diagnosed at 20 weeks gestation. Post-mortem examination confirmed fetal hydrops, pallor, truncus arteriosus and bilateral radioulnar synostosis.

Navigating nutrition and hydration care in the adult patient with short bowel syndrome.

Attending diligently to the nutrition and hydration needs of patients with short bowel syndrome (SBS) is a key tenet of their care, both postoperatively and in the years that follow. For, without each, patients are left to themselves to navigate the nutrition consequences of SBS, including malnutrition, nutrient deficiencies, renal compromise, osteoporosis, fatigue, depression, and impaired quality of life. The intent of this review is to discuss the initial nutrition assessment, oral diet, hydration, and home nutrition support for the patient with SBS.

Plating and Stripping Calcium Metal in Potassium Hexafluorophosphate Electrolyte toward a Stable Hybrid Solid Electrolyte Interphase.

The use of calcium (Ca) metal anodes in batteries is currently challenged by the development of a suitable solid electrolyte interface (SEI) that enables effective Ca ion transport. Native calcium electrolytes produce a passivation layer on the surface of the calcium electrodes during cycling, causing a decrease in capacity during cycling and the need for large overpotentials. The use of a hybrid SEI is a strategy to mitigate the uncontrolled production of a passivation layer and reduce the overpotentials needed for the plating and stripping of calcium.

A multidisciplinary team evaluation of management guidelines for adult short bowel syndrome.

Background & Aims: An international, multidisciplinary management working group (MWG) convened to review clinically useful short bowel syndrome (SBS) literature and identify gaps and inconsistencies in the management of adults with SBS.

Methods: Using nominal group technique for literature review, key publications were identified, discussed, and ranked by importance related to management of SBS. Gaps in management recommendations for SBS were identified upon critical review of the selected publications.

Characteristics of adult intestinal failure centers: An international multicenter survey.

Background: Current guidelines recommend that patients with chronic intestinal failure (CIF) should be managed by a multidisciplinary team (MDT). However, the characteristics of real-world IF centers and the patients they care for are lacking. The study aims to describe IF center characteristics as well as characteristics of patients with CIF across different global regions.

The prenatal exome - a door to prenatal diagnostics?

: Prenatal exome sequencing (ES) allows parents the opportunity to obtain arapid molecular diagnosis of monogenic etiology when their fetus is found to have structural anomalies detected on prenatal ultrasound. Such information can improve antenatal and neonatal counseling, decision-making and management, and expand reproductive options in subsequent pregnancies.: This review appraises the evidence, from acomprehensive search of bibliographic databases, for the introduction of ES into the fetal medicine care pathway when investigating congenital malformations.

Long-Term Outcomes With Teduglutide From a Single Center.

Background: The aim of this study was to quantify the long-term clinical outcomes for individuals receiving teduglutide for short-bowel syndrome (SBS).

Methods: A single-center, retrospective study was performed for individuals commencing use of teduglutide between March 2013 and May 2019.

Results: Eighteen patients were included in the final analysis, among which the median duration of teduglutide administration was 3.

The Impact of a Non-profit Market on Food Store Choice and Shopping Experience: A Community Case Study.

Research evaluating the impact of new food stores in "food deserts" have reported limited impact on eating and health outcomes of residents who live nearby. Few studies have reported on shoppers' food store choices and experiences in these new stores. This study focused on residents' experience with a new non-profit food market in Chester, PA and analyzes spatial patterns regarding who did and did not choose to shop at the new store.

An overview of short bowel syndrome management: adherence, adaptation, and practical recommendations.

Short bowel syndrome (SBS) refers to the clinical consequences resulting from loss of small bowel absorptive surface area due to surgical resection or bypass. The syndrome is characterized by maldigestion, malabsorption, and malnutrition. Survival of patients with SBS is dependent on adaptation in the remaining bowel and a combination of pharmacologic and nutrition therapies.

Communication outcomes for groups of children using cochlear implants enrolled in auditory-verbal, aural-oral, and bilingual-bicultural early intervention programs.

Objective: The relative impact of early intervention approach on speech perception and language skills was examined in these 3 well-matched groups of children using cochlear implants.

Study Design: Eight children from an auditory verbal intervention program were identified. From a pediatric database, researchers blind to the outcome data, identified 23 children from auditory oral programs and 8 children from bilingual-bicultural programs with the same inclusion criteria and equivalent demographic factors.

Hearing impairment in otitis media with effusion: a cross-sectional study based in Pokhara, Nepal.

Objective: Otitis media with effusion (OME) is a major cause of childhood hearing impairment (HI) in the developing world, but its prevalence has never been quantified in Nepal. This study therefore set out to determine the proportion of cases of OME complicated by HI and to identify associated factors.

Methods: This was a cross-sectional prevalence survey carried out in rural, urban and Tibetan schools in and around Pokhara, Nepal.