syndrome guidelines

AIM: This aim of this study was to detail maternal and fetal anomalies observed on a national scale in a large French cohort of patients presenting high hCG values (≥10 multiple of the median [MoM]) at Down syndrome screening in order to define clear and optimal guidelines. METHODS: This is a retrospective multicenter study based on a French annual database of all trisomy 21 screenings. Our study targeted and studied cases with hCG or hCGβ values ≥10 MoM...

BACKGROUND: Harlequin syndrome is a rare autonomic condition consisting of unilateral facial flushing and sweating induced by heat, emotion or physical activity. The affected side presents anhidrosis and midline facial pallor due to denervation of the sympathetic fibers. CASE DESCRIPTION: This case describes a patient who reported right-side redness of the face associated with hyperhidrosis during physical activity. She had two previous major motor vehicle accidents...

BACKGROUND: The genitourinary syndrome of menopause (GSM) is a well-documented condition characterized by a range of genitourinary symptoms in peri- and postmenopausal women. As with GSM, postpartum lactating women experience reduced estrogen and androgen levels. However, there is limited research on the impact of symptoms during the postpartum breastfeeding period. OBJECTIVES: The aim was to review the literature for genitourinary health in the postpartum breastfeeding population and summarize key findings and potential treatments...

Introduction Patients with subarachnoid hemorrhages (SAH) with external ventricular drains (EVD) can develop chronic hydrocephalus (HCP), requiring permanent cerebrospinal fluid (CSF) diversion via an external shunt. Two different strategies have been used to assess for dependence on EVD: 1) prompt closure, and 2) gradual weaning. Gradual weaning of EVDs is performed by increasing drainage resistance to outflow over days. However, when to start one strategy or the other is up to the physician...

The International League Against Epilepsy (ILAE) is an organization of 120 national chapters providing the most widely accepted and updated guidelines on epilepsy. In 2022, the ILAE Task Force revised the prior (2011) classification of focal cortical dysplasias to incorporate and update clinicopathologic and genetic information, with the aim to provide an objective classification scheme. New molecular-genetic information has led to the concept of "integrated diagnosis" on the same lines as brain tumors, with a multilayered diagnostic model providing a phenotype-genotype integration...

AIM: The recommended duration of dual anti-platelet therapy (DAPT) following acute coronary syndrome (ACS) for patients without atrial fibrillation varies from 1 month to 1 year depending on the balance of risks of ischaemia and major bleeding. Patients on DAPT with a high risk of gastrointestinal bleeding are also recommended to receive a proton pump inhibitor (PPI). Our aim was to audit current practice against the 2020 European Society of Cardiology (ESC) guideline recommendations...

BACKGROUND: Non-invasive prenatal testing (NIPT) is a widely adopted maternal blood test that analyses foetal originating DNA to screen for foetal chromosomal conditions, including Down's syndrome (DS). The introduction of this test, which may have implications for important decisions made during pregnancy, requires continual monitoring and evaluation. This systematic review aims to assess the extent of NIPT introduction into national screening programmes for DS worldwide, its uptake, and impact on pregnancy outcomes...

OBJECTIVES: This systematic review assessed the efficacy and safety of abatacept in patients with systemic juvenile idiopathic arthritis (JIA). METHODS: Studies published between 2000 and 2021 were searched using PubMed, Embase, Cochrane, Ichushi-Web and clinical trial registries. The risk of bias was assessed according to the manual for development clinical practice guidelines by Minds, a project to promote evidence-based medicine in Japan. RESULTS: Seven observational studies were included...

Wartenberg syndrome, also known as Cheiralgia paresthetica, is an uncommon neuropathy affecting the superficial branch of the radial nerve. Typically caused by external compression, it manifests as paresthesia or pain in the radial side of the hand. We present a case of Wartenberg syndrome resulting from combat shrapnel injury, illustrating an uncommon etiology. A 21-year-old soldier was presented with allodynia and paresthesia after a shrapnel explosion, with positive clinical findings and radiographic evidence supporting the diagnosis...

Afferent loop syndrome is a rare post-operative complication following upper gastrointestinal bypass surgeries, usually occurring within the first two weeks post-operation. This case report, however, outlines afferent loop syndrome almost a decade post-surgery, which was managed conservatively. A 54-year-old woman presented with a few days' history of epigastric pain, vomiting, and constipation. She had undergone a sleeve gastrectomy and was converted to a Roux-en-Y gastrojejunostomy for weight loss 9 and 7 years ago, respectively...

BACKGROUND: Post-transplant infections remain a leading cause of morbidity and mortality in solid organ transplant recipients (SOTRs) and local standardized antimicrobial treatment guidelines may contribute to improved clinical outcomes. Our study assessed the rate of therapeutic compliance with local standard guidelines in the treatment of common infections in SOTR, and their associated outcomes. METHODS: Consecutive adult SOTRs admitted to the transplant floor from January-September 2020 and were treated for an infectious syndrome were followed until discharge or for 30 days following the date of diagnosis, whichever was shorter...

AIMS: Sleep-disordered breathing (SDB) is closely related to cardiovascular diseases. The higher the apnoea-hypopnoea index (AHI), the higher the prevalence of cardiovascular diseases. Despite these findings suggesting a close link between SDB and heart failure, the relationship between the severity of SDB and the onset of heart failure symptoms in individuals without apparent heart failure symptoms (Heart Failure Stage A + B) remains poorly understood. METHODS AND RESULTS: Between December 2010 and June 2017, we conducted full-night polysomnography (PSG) at the Nippon Medical School Chiba Hokusoh Hospital, extracting patients who were at risk of heart failure (Stage A or B in the Heart Failure Guidelines)...

OBJECTIVES: Odontogenic keratocysts exhibit frequent recurrence, distinctive histopathological traits, a tendency towards aggressive clinical behavior, and a potential linkage to the nevoid basal cell carcinoma syndrome. The aim of this systematic review is to compile insights concerning the control of this condition and assess the effectiveness of various treatment approaches in reducing the likelihood of recurrence. MATERIALS AND METHODS: The following systematic review adhered to the PRISMA guidelines...

PURPOSE: Spinal epidural hematoma (SEH) is a rare yet significant complication associated with neuraxial anesthesia. Here, we present the case of a 74-yr-old male who underwent open repair of an abdominal aortic aneurysm. Following the removal of an epidural catheter, the patient developed anterior spinal cord syndrome due to an SEH despite having a normal coagulation profile. CLINICAL FEATURES: This patient's neurologic presentation was marked by a loss of motor function while maintaining fine touch sensation distal to the spinal cord injury...

This practice guideline provides updated evidence-based conclusions and recommendations regarding the effects of antiseizure medications (ASMs) and folic acid supplementation on the prevalence of major congenital malformations (MCMs), adverse perinatal outcomes, and neurodevelopmental outcomes in children born to people with epilepsy of childbearing potential (PWECP). A multidisciplinary panel conducted a systematic review and developed practice recommendations following the process outlined in the 2017 edition of the American Academy of Neurology Clinical Practice Guideline Process Manual...

Turner syndrome affects 50 per 100,000 females, affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics, estrogen treatment, fertility, co-morbidities, and neurocognition and neuropsychology. Exploratory meetings were held in 2021 in Europe and US culminating with a consensus meeting in Aarhus, Denmark in June 2023. Prior to this, eight groups addressed important areas in TS care: 1) diagnosis and genetics, 2) growth, 3) puberty and estrogen treatment, 4) cardiovascular health, 5) transition, 6) fertility assessment, monitoring, and counselling, 7) health surveillance for comorbidities throughout the lifespan, and 8) neurocognition and its implications for mental health and well-being...

OBJECTIVE: To co-create expert guidelines for the management of pregnancy, birth, and postpartum recovery in the context of hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD). DESIGN: Scoping Review and Expert Co-creation. SETTING: United Kingdom, United States of America, Canada, France, Sweden, Luxembourg, Germany, Italy, and the Netherlands. SAMPLE: Co-creators (n = 15) included expertise from patients and clinicians from the International Consortium on the Ehlers-Danlos syndromes and Hypermobility Spectrum Disorders, facilitated by the Ehlers-Danlos Society...

The fourth Society for Academic Emergency Medicine (SAEM) Guidelines for Reasonable and Appropriate Care in the Emergency Department (GRACE-4) is on the topic of the emergency department (ED) management of nonopioid use disorders and focuses on alcohol withdrawal syndrome (AWS), alcohol use disorder (AUD), and cannabinoid hyperemesis syndrome (CHS). The SAEM GRACE-4 Writing Team, composed of emergency physicians and experts in addiction medicine and patients with lived experience, applied the Grading of Recommendations Assessment Development and Evaluation (GRADE) approach to assess the certainty of evidence and strength of recommendations regarding six priority questions for adult ED patients with AWS, AUD, and CHS...

Alport syndrome is a genetic kidney disease that causes worsening of kidney function over time, often progressing to kidney failure. Some types of Alport syndrome cause other symptoms and signs, including hearing loss and eye abnormalities. Research now indicates that Alport syndrome (autosomal dominant inheritance) is the most common form. Alport syndrome can have X-linked or a rare form of autosomal recessive inheritance. Traditionally, a kidney biopsy was used to diagnose Alport syndrome, but genetic testing provides a more precise and less invasive means of diagnosis and reveals the underlying pattern of inheritance...

BACKGROUND: The outbreak of Coronavirus disease (COVID-19), caused by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS CoV-2) has caused worldwide panic in the global population taking people's lives, creating fear, and affecting mother-child relationships. Many questions were raised on the dangers of being infected with COVID-19 for newborns and safety concerns during feeding by COVID-19-positive mothers. Moreover, questions and doubts about the safety of the administration of vaccinations for nursing mothers are still open...