7,718,496 results match your criteria Diseases of Tetrapyrrole Metabolism - Refsum Disease and the Hepatic Porphyrias


The Relation Between Sex, Menopause, and White Matter Hyperintensities: The Rhineland Study.

Neurology 2022 Jun 29. Epub 2022 Jun 29.

Population Health Sciences, German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany

Background And Objective: Mounting evidence implies that there are sex differences in white matter hyperintensity (WMH) burden in the elderly. Questions remain regarding possible differences in WMH burden between men and women of younger age, sex-specific age trajectories and effects of (un)controlled hypertension, and the effect of menopause on WMH. Therefore, our aim is to investigate these sex differences and age-dependencies in WMH load across the adult life span, and to examine the effect of menopause. Read More

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Surgical Treatment of Bilateral Tubo-Ovarian Abscess in a Pre-Coitarchal Female.

Am Surg 2022 Jun 29:31348221112264. Epub 2022 Jun 29.

Pediatric and Adolescent Gynecology, Department of Obstetrics and Gynecology, 2630Prisma Health Midlands, Columbia, SC, USA.

Tubo-ovarian abscess (TOA) is a complication of pelvic inflammatory disease that is most commonly seen in sexually active females and seldom in pre-coitarchal adolescents. Initial treatment is generally parenteral antibiotics but often requires more invasive surgical procedures. We present the case of a 12-year-old, non-sexually active adolescent, with bilateral TOA who ultimately underwent a sterilizing bilateral salpingectomy and appendectomy for treatment. Read More

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Wheeze in the time of COVID-19: overcoming obstacles to an unusual diagnosis.

Thorax 2022 Jun 29. Epub 2022 Jun 29.

Lifespan and Population Health, University of Nottingham School of Medicine, Nottingham, UK.

This case is an example of a rare cause of a common clinical presentation (persistent lobar collapse with wheeze). We describe patient management from primary care through to a national thoracic referral centre. We highlight the importance of objective testing to support an asthma diagnosis and the need to consider alternative or additional diagnoses if a patient does not respond to treatment or the clinical course is unexpected. Read More

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Subtyping emphysematous COPD by respiratory volume change distributions on CT.

Thorax 2022 Jun 29. Epub 2022 Jun 29.

Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

Background: There is considerable heterogeneity among patients with emphysematous chronic obstructive pulmonary disease (COPD). We hypothesised that in addition to emphysema severity, ventilation distribution in emphysematous regions would be associated with clinical-physiological impairments in these patients.

Objective: To evaluate whether the discordance between respiratory volume change distributions (from expiration to inspiration) in emphysematous and non-emphysematous regions affects COPD outcomes using two cohorts. Read More

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Cancer risk and tumour spectrum in 172 patients with a germline pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.

J Med Genet 2022 Jun 29. Epub 2022 Jun 29.

Team "Genomics and Oncogenesis of pediatric Brain Tumors"-Paris Saclay University, INSERM U981, VILLEJUIF, France.

Background: Little is known about risks associated with germline pathogenic variants (PVs) known as a cancer predisposition syndrome.

Methods: To study tumour risks, we have analysed data of a large cohort of 45 unpublished patients with a germline PV completed with 127 previously published patients. To reduce the ascertainment bias due to index patient selection, the risk of tumours was evaluated in relatives with PV (89 patients) using the Nelson-Aalen estimator. Read More

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Predictors of liver cirrhosis and hepatocellular carcinoma among perioperative survivors of the Fontan operation.

Heart 2022 Jun 29. Epub 2022 Jun 29.

Pediatric Cardiology and Adult Congenital Cardiology, Tokyo Women's Medical University, Tokyo, Japan

Objective: Fontan-associated liver disease (FALD) is widely recognised as a common complication in patients long after the Fontan operation. However, data on the predictors of FALD that can guide its screening and management are lacking. The present study aimed to identify the predictors of liver cirrhosis (LC) and hepatocellular carcinoma (HCC) in post-Fontan patients. Read More

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Revascularisation for the proximal left anterior descending artery: special case or part of the package?

Heart 2022 Jun 29. Epub 2022 Jun 29.

Infection, Immunity and Cardiovascular Disease, The University of Sheffield, Sheffield, UK.

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Health Care Equity and Justice Scorecard To Increase Diversity in Clinical Trial Recruitment and Retention.

J Am Soc Nephrol 2022 Jun 29. Epub 2022 Jun 29.

Division of Nephrology, Department of Medicine, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, California

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A Deep Learning Approach for Automated Segmentation of Kidneys and Exophytic Cysts in Individuals with Autosomal Dominant Polycystic Kidney Disease.

J Am Soc Nephrol 2022 Jun 29. Epub 2022 Jun 29.

Department of Radiology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania

Background: Total kidney volume (TKV) is an important imaging biomarker in autosomal dominant polycystic kidney disease (ADPKD). Manual computation of TKV, particularly with the exclusion of exophytic cysts, is laborious and time consuming.

Methods: We developed a fully automated segmentation method for TKV using a deep learning network to selectively segment kidney regions while excluding exophytic cysts. Read More

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Acknowledging Socioecological Systems to Address the Systemic Racial Disparities in Children with Kidney Disease.

J Am Soc Nephrol 2022 Jun 29. Epub 2022 Jun 29.

The Kidney and Urinary Tract Center, Nationwide Children's Hospital, Columbus, Ohio

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Paediatric health-related quality of life in congenital cytomegalovirus.

Arch Dis Child 2022 Jun 29. Epub 2022 Jun 29.

Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.

Objective: Congenital cytomegalovirus (cCMV) is the most common congenital infection globally. This cross-sectional study aimed to describe the health-related quality of life (HRQoL) of children with cCMV and that of their parents.

Methods: Families of children with cCMV in the UK were approached through the charity CMV Action. Read More

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Social Factors, Epigenomics and Lupus in African American Women (SELA) Study: protocol for an observational mechanistic study examining the interplay of multiple individual and social factors on lupus outcomes in a health disparity population.

Lupus Sci Med 2022 Jun;9(1)

Department of Medicine, Medical University of South Carolina, Charleston, South Carolina, USA

Introduction: Despite the disproportional impact of SLE on historically marginalised communities, the individual and sociocultural factors underlying these health disparities remain elusive. We report the design and methods for a study aimed at identifying epigenetic biomarkers associated with racism and resiliency that affect gene function and thereby influence SLE in a health disparity population.

Methods And Analysis: The Social Factors, Epigenomics and Lupus in African American Women (SELA) Study is a cross-sectional, case-control study. Read More

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Genome-scale CRISPR-Cas9 screen reveals novel regulators of B7-H3 in tumor cells.

J Immunother Cancer 2022 Jun;10(6)

State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu, Sichuan, China

Background: Despite advances in B7 homolog 3 protein (B7-H3) based immunotherapy, the development of drug resistance remains a major clinical concern. The heterogeneity and emerging loss of B7-H3 expression are the main causes of drug resistance and treatment failure in targeted therapies, which reveals an urgent need to elucidate the mechanism underlying the regulation of B7-H3 expression. In this study, we identified and explored the crucial role of the transcription factor SPT20 homolog (SP20H) in B7-H3 expression and tumor progression. Read More

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Perineal syphilitic gumma: tertiary syphilis in a developed country.

BMJ Case Rep 2022 Jun 29;15(6). Epub 2022 Jun 29.

Obstetrics and Gynecology, Unidade Local de Saúde de Matosinhos, E.P.E, Matosinhos, Porto, Portugal.

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Severe myopericarditis following the third dose of an mRNA COVID-19 vaccine: utility of a multimodal treatment approach.

BMJ Case Rep 2022 Jun 29;15(6). Epub 2022 Jun 29.

Division of Cardiovascular Medicine, Department of Medicine, University of Florida College of Medicine, Gainesville, Florida, USA.

We report a rare case of severe myopericarditis in a healthy man in his 20s after the third dose of an mRNA COVID-19 vaccine. His symptoms and troponinemia resolved with a beta-blocker in addition to standard anti-inflammatory therapy, highlighting the utility of multimodal therapy. Read More

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Oncologic and pregnancy outcomes after fertility-sparing surgery for stage I, low-grade endometrioid ovarian cancer.

Int J Gynecol Cancer 2022 Jun 29. Epub 2022 Jun 29.

Department of Obstetrics and Gynaecology, Division of Gynaecologic Oncology, University of Toronto, Toronto, Ontario, Canada

Objective: To evaluate oncologic outcomes in patients with stage I endometrioid ovarian cancer treated with fertility-sparing compared with conventional surgery and to describe reproductive outcomes.

Methods: A retrospective cohort study was carried out of patients aged 18-45 with stage I, grade 1 and 2 (low-grade) endometrioid ovarian cancer treated at two cancer centers between July 2001 and December 2019. Clinical and pathologic characteristics were compared using Fisher's exact test for categorical and the Mann-Whitney U test for continuous variables. Read More

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Incidence and outcomes of pulmonary hypertension in the Ireland.

BMJ Open Respir Res 2022 Jun;9(1)

National Pulmonary Hypertension Unit, Mater Misericordiae University Hospital, Dublin, Ireland.

Introduction: Pulmonary hypertension (PH) is a progressive disease of the pulmonary vasculature, which is characterised by premature morbidity and mortality. The aim of this study is to define the characteristics of PH in the national PH unit (NPHU) in Ireland between 2010 and 2020.

Methods: Cases of PH which were referred to the NPHU between 2010 and 2020 were included. Read More

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Glycolipid Metabolite β-Glucosylceramide Is a Neutrophil Extracellular Trap-Inducing Ligand of Mincle Released during Bacterial Infection and Inflammation.

J Immunol 2022 Jun 29. Epub 2022 Jun 29.

Department of Biomedical Sciences, School of Medicine & Health Sciences, The University of North Dakota, Grand Forks, ND; and

Neutrophil extracellular traps (NETs) are implicated in host defense and inflammatory pathologies alike. A wide range of pathogen- and host-derived factors are known to induce NETs, yet the knowledge about specific receptor-ligand interactions in this response is limited. We previously reported that macrophage-inducible C-type lectin (Mincle) regulates NET formation. Read More

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Monitoring Circulating CD207CD1a Cells in Langerhans Cell Histiocytosis and Clinical Implications.

J Immunol 2022 Jun 29. Epub 2022 Jun 29.

Instituto de Medicina Experimental, Academia Nacional de Medicina-Consejo Nacional de Investigaciones Científicas y Técnicas de Argentina, Buenos Aires, Argentina;

Langerhans cell histiocytosis (LCH) is a disorder characterized by an abnormal accumulation of CD207 and CD1a cells in almost any tissue. Currently, there is a lack of prognostic markers to follow up patients and track disease reactivation or treatment response. Putative myeloid precursors CD207 and CD1a cells were previously identified circulating in the blood. Read More

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Acetylcholine, Fatty Acids, and Lipid Mediators Are Linked to COVID-19 Severity.

J Immunol 2022 Jun 29. Epub 2022 Jun 29.

Departamento de Análises Clínicas, Toxicológicas e Bromatológicas, Faculdade de Ciências Farmacêuticas de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, São Paulo, Brazil.

Lipid and cholinergic mediators are inflammatory regulators, but their role in the immunopathology of COVID-19 is still unclear. Here, we used human blood and tracheal aspirate (TA) to investigate whether acetylcholine (Ach), fatty acids (FAs), and their derived lipid mediators (LMs) are associated with COVID-19 severity. First, we analyzed the perturbation profile induced by SARS-CoV-2 infection in the transcriptional profile of genes related to the ACh and FA/LM pathways. Read More

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Recent findings on hyperprolactinemia and its pathological implications: a literature review.

J Investig Med 2022 Jun 29. Epub 2022 Jun 29.

Department of Clinical Biochemistry, Afzalipur Faculty of Medicine, Kerman University of Medical Sciences, Kerman, The Islamic Republic of Iran

The prolactin hormone (PRL) is often secreted by lactotrophic cells of the anterior pituitary and has been shown to play a role in various biological processes, including breast feeding and reproduction. The predominant form of this hormone is the 23 kDa form and acts through its receptor (PRLR) on the cell membrane. This receptor is a member of the superfamily of hematopoietic/cytokine receptors. Read More

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▼Inclisiran: more hope less hype.

Authors:

Drug Ther Bull 2022 Jul;60(7):102-107

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Pathogenesis of tuberculosis: the 1930 Lübeck disaster revisited.

Eur Respir Rev 2022 Jun 28;31(164). Epub 2022 Jun 28.

Global TB Program, Dept of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.

During the 1930 Lübeck bacille Calmette-Guérin (BCG) disaster, 251 neonates received three oral BCG doses accidentally contaminated by virulent ; 67 (26.7%) infants died of tuberculosis. BCG reversion to pathogenicity did not occur. Read More

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Predictors of sleep disordered breathing in children with Down syndrome: a systematic review and meta-analysis.

Eur Respir Rev 2022 Jun 28;31(164). Epub 2022 Jun 28.

University of Ottawa, Faculty of Medicine, Ottawa, ON, Canada

Children with Down syndrome are at increased risk of sleep disordered breathing (SDB). SDB is associated with significant morbidity including neurocognitive impairment, cardiometabolic disease and systemic inflammation. The identification of clinical markers that may predict SDB is critical in facilitating early diagnosis and treatment, and ultimately, preventing morbidity. Read More

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Web-based interventions for pregnant women with gestational diabetes mellitus: a systematic review and meta-analysis protocol.

BMJ Open 2022 Jun 29;12(6):e061151. Epub 2022 Jun 29.

Women's Hospital, Zhejiang University School of Medicine, Hangzhou, China

Introduction: Gestational diabetes mellitus (GDM) is one of the most prevalent diseases during pregnancy, which is closely associated with many short-term and long-term maternal and neonatal complications and can incur heavy financial burden on both families and society. Web-based interventions have been used to manage GDM because of the advantages of high accessibility and flexibility, but their effectiveness has remained inconclusive. This systematic review and meta-analysis aims to comprehensively investigate the multidimensional effectiveness of web-based interventions for pregnant women with GDM, thereby aiding implementation decisions in clinical settings. Read More

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