syndrome guidelines

IMPORTANCE: Metabolic syndrome (MetS) is a common health condition that predisposes individuals to cardiovascular disease (CVD) and disproportionately affects Black and other racially and ethnically minoritized people. Concurrently, Black individuals also report more exposure to racial discrimination compared with White individuals; however, the role of discrimination in the development of MetS over time and associated mediators in these pathways remain underexplored. OBJECTIVE: To evaluate the association between racial discrimination and MetS in rural Black individuals transitioning from late adolescence into early adulthood and to identify potential mediating pathways...

BACKGROUND: A complete review of the development of neonatology in the last 40 years would probably require a compendium with several volumes, to bring to view the remarkable improvements in survival rates and neurodevelopmental outcomes of ill babies in Austria, most industrial countries and to some extent worldwide. The challenge I had to solve here was to integrate my own contributions to the field of neonatology during this period and particularly the contributions of my team from the Division of Neonatology and Pediatric Intensive Care Medicine, Department of Pediatrics and Adolescence Medicine, Medical University Vienna where I was working first as an intern and resident and later had the privilege to become head of department...

Background: Previous studies have indicated an inverse relationship between aerobic physical activity (PA) and risk of diabetes-related mortality (DRM). However, the contribution of aerobic PA across multiple domains, while also considering the contribution of muscle-strengthening activity (MSA), in reduction of risk for DRM has yet to be examined. Purpose: The aim of this study is to examine the individual and combined associations of aerobic PA and MSA with DRM. Methods: The study sample ( n  = 13,350) included adult (20-79 years of age) participants from the 1999 to 2006 National Health and Nutrition Examination Survey...

The duration and quality of sleep are believed to significantly influence the onset of metabolic syndrome (MetS), but existing data lack consistency. The meta-analysis aims to evaluate the prevalence of the MetS in association with sleep duration. We conducted a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses 2020 guidelines. A comprehensive search of PubMed, Google Scholar, and Research Gate databases was performed to identify cohort and cross-sectional studies published in English between 2013 and 2023...

This is a case report of one patient experiencing psychotic symptoms in the setting of Charles Bonnet syndrome (CBS). Case description is included, and patient has been deidentified. Patient's consent could not be obtained for the submission of the report. The case report focuses on understanding and formulating key psychological issues addressed in this case. It is important to identify that the absence of psychotic illness is classical in patients presenting with psychotic symptoms in CBS and the role of antipsychotic medication is uncertain...

The sudden outbreak of coronavirus disease 2019 (COVID-19) in early 2020 posed a massive threat to human life and caused an economic upheaval worldwide. Kidney transplant recipients (KTRs) became susceptible to infection during the COVID-19 pandemic owing to their use of immunosuppressants, resulting in increased hospitalization and mortality rates. Although the current epidemic situation is alleviated, the long-term existence of COVID-19 still seriously threatens the life and health of KTRs with low immunity...

INTRODUCTION: Sinusoidal obstructive syndrome (SOS), or veno-occlusive disease (VOD), of the liver has been recognized as a complex, life-threatening complication in the post-hematopoietic stem cell transplant (HSCT) setting. The diagnostic criteria for SOS have evolved over the last several decades with a greater understanding of the underlying pathophysiology, with two recent diagnostic criteria introduced in 2018 (EBMT criteria) and 2020 (Cairo criteria). OBJECTIVE: We sought out to evaluate the performance characteristics in diagnosing and grading SOS in pediatric patients of the four different diagnostic criteria (Baltimore, Modified Seattle, EBMT, and Cairo) and severity grading systems (defined by the EBMT and Cairo criteria)...

IMPORTANCE: Hirsutism represents a significant concern for women with polycystic ovary syndrome (PCOS), with deleterious psychological effects warranting acknowledgment and a clear imperative to provide effective management. To our knowledge, this is the first review to exclusively examine the effectiveness of laser and light-based therapies in addressing hirsutism in women with PCOS. OBJECTIVE: To synthesize the existing literature regarding the effectiveness of laser and light hair reduction therapies, either as stand-alone treatments or in combination with systemic agents, in treating hirsutism for women with PCOS...

OBJECTIVE: To ascertain the presence of catatonia in cases of pediatric postoperative cerebellar mutism syndrome (PPCMS). METHOD: A systematic review of PPCMS case reports of patients aged 0-17 years with sufficient clinical information to extract catatonic phenomena was undertaken following PRISMA guidelines. Standardized catatonia rating scales were applied to selected cases retrospectively to ascertain whether diagnostic criteria for catatonia were met. A case known to the authors is also presented...

We report a case of a pregnant patient with Gitelman syndrome (GS) who conceived by in vitro fertilization-embryo transfer (IVF-ET). A 39-year-old woman was referred for hypokalemia, with a serum potassium level of 2.2 mEq/L. She had difficulty conceiving spontaneously. Because of her age, her hypokalemia could be exacerbated by pregnancy. We provided preconception care and managed her pregnancy by frozen-thawed embryo transfer with careful monitoring of the K levels. However, her serum K level dropped to 2...

COVID-19, also known as coronavirus disease 2019, is an extremely contagious viral sickness caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). After the first cases of this primarily respiratory viral illness were recorded in Wuhan, Hubei Province, China, in late December 2019, SARS-CoV-2 rapidly disseminated across the globe. Consequently, on March 11, 2020, the World Health Organization (WHO) declared it a global pandemic. The rapid spread of the COVID-19 virus, coupled with subsequent lockdowns and social distancing measures, profoundly disrupted traditional healthcare delivery systems...

Cardiac emergencies in women, such as acute coronary syndromes, acute heart failure, and cardiac arrest, are associated with a high risk of adverse outcomes and mortality. Although women historically have been significantly underrepresented in clinical studies of these diseases, the guideline-recommended treatment for these emergencies is generally the same for both sexes. Still, women are less likely to receive evidence-based treatment compared to men. Furthermore, specific diseases affecting predominantly or exclusively women, such as spontaneous coronary dissection, myocardial infarction with non-obstructive coronary arteries, takotsubo cardiomyopathy, and peripartum cardiomyopathy, require specialized attention in terms of both diagnosis and management...

BACKGROUND: Currently, human immunodeficiency virus and acquired immunodeficiency syndrome (HIV/AIDS) has become one of the major health problems worldwide, including Indonesia. East Java is one of the provinces in Indonesia with the highest prevalence of HIV infection. One of the causes of HIV infection transmission is lesbian, gay, bisexual, and transgender (LGBT) practice. Furthermore, the treatment using antiretroviral (ARV) drugs in HIV-1 patients can fail due to the presence of HIV drug resistance...

BACKGROUND: Alpha-gal syndrome is an allergic condition in which individuals develop an immune-mediated hypersensitivity response when consuming red meat and its derived products. Its diagnosis is important in individuals undergoing cardiac surgery, as patients frequently require large doses of unfractionated heparin or the insertion of surgical implants, both of which are porcine or bovine in origin. There are currently no guidelines for heparin administration in alpha-gal patients, with even less knowledge regarding the long-term clinical implications of these patients after receiving bioprosthetic valve replacements or other prostheses...

OBJECTIVE: Branchio-oto-renal syndrome (BOR, OMIM#113,650) is a rare autosomal dominant disorder that presents with a variety of symptoms, including hearing loss (sensorineural, conductive, or mixed), structural abnormalities affecting the outer, middle, and inner ear, branchial fistulas or cysts, as well as renal abnormalities.This study aims to identify the pathogenic variants by performing genetic testing on a family with Branchio-oto-renal /Branchio-otic (BO, OMIM#602,588) syndrome using whole-exome sequencing, and to explore possible pathogenic mechanisms...

BACKGROUND: The Comprehensive Geriatric Assessment (CGA) records geriatric syndromes in a standardized manner, allowing individualized treatment tailored to the patient's needs and resources. Its use has shown a beneficial effect on the functional outcome and survival of geriatric patients. A recently published German S1 guideline for level 2 CGA provides recommendations for the use of a broad variety of different assessment instruments for each geriatric syndrome. However, the actual use of assessment instruments in routine geriatric clinical practice and its consistency with the guideline and the current state of literature has not been investigated to date...

DNA sequencing of tumour tissue has become the standard care for many solid cancers because of the option to detect somatic variants that have significant therapeutic, diagnostic and prognostic implications. Variants found within the tumour may be either somatic or germline in origin. Somatic cancer gene panels are developed to detect acquired (somatic) variants that are relevant for therapeutic or molecular characterisation of the tumour, expanding gene panels now include genes which may also inform patient management such as cancer predisposition syndromes (CPS) genes...

BACKGROUND CRS (cytokine release syndrome) is a massive activation of the inflammatory system characterized by a supra-physiological rate of inflammatory cytokines. The interleukin 6 cytokine plays a central role in CRS. The main clinical sign of CRS is fever, but CRS can lead to multiple organ failure in severe cases. CRS is usually described in sepsis, more recently in SARS COV-2 infection, and in chimeric antigen receptor T-cell therapy. However, it can also be associated with immune checkpoint inhibitors (ICIs), which is infrequently described...

OBJECTIVE: We aimed to review the literature on the clinical presentation, renal pathology, treatment, and outcome of renal manifestations in adult-onset Still's disease (AOSD). METHODS: We used PRISMA guidelines for our systematic review and included all English-language original articles from inception till September 15, 2023, on AOSD and kidney involvement in any form. Data on patient demographics, diagnostic criteria, clinical presentation, renal pathology, treatment employed including dialysis, outcome, cause of death were collected and analyzed...

BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in COL3A1 . The aim of this cohort study is to provide further insights into the natural history of vEDS and describe genotype-phenotype correlations in a Dutch multicenter cohort to optimize patient care and increase awareness of the disease. METHODS: Individuals with vEDS throughout the Netherlands were included...