1,234 results match your criteria: "Emanuel Hospital & Health Center[Affiliation]"

Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases.

Chromosome Res

July 2024

Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou City, 350001, Fujian Province, China.

Article Synopsis
  • - Background research on small supernumerary marker chromosomes (sSMCs) indicates that their structure and origins are poorly understood, making it challenging to provide accurate genetic counseling for affected fetuses.
  • - A study analyzing 36 sSMC cases revealed that 19 were mosaic, and 27 had pathogenic or likely pathogenic copy number variants (CNVs), with notable associations to Turner syndrome and other syndromes based on specific CNVs identified.
  • - The findings highlight the importance of cytogenetic analysis in determining the pathogenic nature of sSMCs, which can significantly improve the accuracy of genetic counseling for affected families.
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Article Synopsis
  • The study evaluated the effectiveness and safety of cladribine (CLAD) for treating relapsing-remitting multiple sclerosis in 240 patients across Argentina, focusing on clinical relapses and disease progression over 24 months.
  • Results showed a significant decrease in annual relapse rates from 1.19 to 0.19, with many patients achieving no evidence of disease activity (NEDA) at both 12 months (84.2%) and 24 months (77%).
  • The study also monitored lymphopenia, finding that grade 1 lymphopenia was the most common, while severe grade 4 lymphopenia was rare, suggesting CLAD is a safe treatment option.
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Stroke in critically ill patients with respiratory failure due to COVID-19: Disparities between low-middle and high-income countries.

Heart Lung

October 2024

Division of Neuroscience Critical Care, Departments of Neurology, Neurosurgery, and Anesthesiology and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Article Synopsis
  • A study was conducted to compare stroke incidences and mortality rates in critically ill COVID-19 patients from low-and middle-income countries (LMICs) and high-income countries (HICs).
  • The results showed that stroke incidence was significantly higher in LMICs (35.7 per 1000 admitted-days) compared to HICs (17.6 per 1000 admitted-days), with patients from LMICs also facing higher mortality rates (43.6% vs. 29.2%).
  • The findings highlight the need for better stroke diagnosis and healthcare resource allocation in LMICs, as both higher income status and the presence of stroke are associated with increased risk of death
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US health care use declined during the initial phase of the COVID-19 pandemic in 2020. Although utilization is known to have recovered in 2021 and 2022, it is unknown how revenue in 2020-22 varied by physician specialty and practice setting. This study linked medical claims from a large national federation of commercial health plans to physician and practice data to estimate pandemic-associated impacts on physician revenue (defined as payments to eligible physicians) by specialty and practice characteristics.

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Purpose: Parenteral nutrition (PN) can be an effective treatment to improve the nutritional status of patients with pancreatic cancer, but the effects of PN on quality of life (QoL) are still understudied. Therefore, we aimed at investigating whether the best supportive nutritional care (BSNC) in combination with PN at home compared to BSNC alone changed QoL in patients with advanced pancreatic cancer undergoing chemotherapy over a period of 7 weeks.

Methods: n = 12 patients in the PANUSCO study received nutritional counseling only (control group (CG)) and n = 9 patients were also given supportive PN (intervention group (IG)).

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Background: Juvenile idiopathic arthritis (JIA) comprises a heterogeneous group of conditions that can cause marked disability and diminished quality of life. Data on predictors of clinical response are insufficient to guide selection of the appropriate biologic agent for individual patients. This study aimed to investigate the propensity of S100A8/9 and S100A12 as predictive biomarkers of abatacept response in polyarticular-course juvenile idiopathic arthritis (pJIA).

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Article Synopsis
  • * An 18-year-old female ingested a dangerous amount of bupropion, resulting in severe health issues including status epilepticus and heart complications, requiring advanced life support measures like ECMO.
  • * After receiving intensive care, including aggressive treatments for her heart issues, the patient made a full recovery and was discharged neurologically intact, highlighting the importance of quick action in bupropion overdose cases.
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Bone health in patients with inflammatory bowel disease.

Swiss Med Wkly

June 2024

Intesto, Gastroenterologische Praxis, Crohn-Colitis-Zentrum Bern, Bern, Switzerland.

Patients with inflammatory bowel disease (IBD) are prone to reduced bone mineral density and elevated overall fracture risk. Osteopenia affects up to 40% of patients with IBD (high regional variability). Besides disease activity, IBD specialists must consider possible side effects of medication and the presence of associated diseases and extraintestinal manifestations.

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Introduction: Despite advanced infection control practices including preoperative antibiotic prophylaxis, surgical site infection (SSI) remains a challenge. This study aimed to test whether local administration of a novel prolonged-release doxycycline-polymer-lipid encapsulation matrix (D-PLEX) before wound closure, concomitantly with standard of care (SOC), reduces the incidence of incisional SSI after elective abdominal colorectal surgery.

Materials And Methods: This was a phase 3 randomized, controlled, double-blind, multinational study (SHIELD 1) between June 2020 to June 2022.

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The enduring legacy of Dr. Emanuel Lebenthal.

J Pediatr Gastroenterol Nutr

August 2024

Department of Pediatrics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany.

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MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

Am J Hum Genet

July 2024

Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T 1C5, Canada.

Article Synopsis
  • * A study identified 25 individuals with new variations in the MSL2 gene, who exhibited NDD symptoms such as developmental delays, coordination problems, and autism spectrum disorder, along with other health concerns.
  • * iPSCs from affected individuals showed reduced MSL2 levels and changes in gene expression, leading to the characterization of a new MSL2-related disorder with unique clinical markers and a specific DNA episignature for diagnosis.
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Non-small-cell lung cancer (NSCLC) is the leading cause of cancer-related death worldwide, with ~40-50% of patients diagnosed with non-metastatic disease (stages IA-IIIC). The treatment landscape is evolving rapidly as immunotherapies and targeted therapy are introduced in the non-metastatic setting, creating a need to assess patient outcomes prior to their introduction. This real-world study using Swedish National Lung Cancer Registry data examined outcomes (overall survival (OS) and time to next treatment or death (TTNTD)) and treatment patterns for adults diagnosed with non-metastatic NSCLC.

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Introduction: Wildfires and deforestation potentially have direct effects on multiple health outcomes as well as indirect consequences for climate change. Tropical rainforest areas are characterised by high rainfall, humidity and temperature, and they are predominantly found in low-income and middle-income countries. This study aims to synthesise the methods, data and health outcomes reported in scientific papers on wildfires and deforestation in these locations.

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Article Synopsis
  • Disproportionality analyses in pharmacovigilance are essential for detecting safety signals from individual case safety reports, but there are no clear guidelines for publishing these analyses, leading to potential misunderstandings.
  • The READUS-PV statement was created to address these concerns by providing a set of 14 guidelines aimed at improving the transparency and comprehensiveness of disproportionality studies.
  • By promoting better reporting standards, the READUS-PV guidelines aim to enhance the accuracy of drug safety data interpretation and support evidence-based decision-making in pharmacovigilance.
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Article Synopsis
  • Disproportionality analyses are key for detecting drug safety signals but are often poorly reported, prompting the creation of new guidelines called READUS-PV for better reporting practices.
  • A panel of 34 international experts developed these guidelines through surveys and consensus meetings, resulting in a checklist of 32 recommendations for reporting in main articles and 12 for abstracts.
  • The implementation of READUS-PV aims to enhance transparency and improve the quality of publications related to drug safety signals.
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Article Synopsis
  • Meningomyelocele is a serious neural tube defect and the most common structural birth defect affecting the central nervous system.
  • The Spina Bifida Sequencing Consortium found that deletions on chromosome 22q11.2 increase the risk of meningomyelocele by 23 times compared to the general population.
  • Research indicates that the deletion of specific genes in this region, combined with a lack of maternal folate, can significantly increase the risk of neural tube defects in offspring.
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Background: In this study, we examined the ethical implications of Egypt's new clinical trial law, employing the ethical framework proposed by Emanuel et al. and comparing it to various national and supranational laws. This analysis is crucial as Egypt, considered a high-growth pharmaceutical market, has become an attractive location for clinical trials, offering insights into the ethical implementation of bioethical regulations in a large population country with a robust healthcare infrastructure and predominantly treatment-naïve patients.

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Article Synopsis
  • Emanuel syndrome is a rare genetic disorder linked to microcephaly, heart problems, cleft palate, and developmental delays, with no established prenatal screening method.
  • Researchers analyzed transcriptome data from samples with a specific chromosomal translocation (t(11;22)(q23;q11)) to identify differentially expressed genes (DEGs) using various bioinformatics techniques, resulting in the identification of 50 DEGs.
  • Five key genes, including ZAP70, were pinpointed as potential early diagnostic markers for Emanuel syndrome, highlighting ZAP70's association with chromosomal imbalances.
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Purpose: Surgery is required in 20-50% of patients with infective endocarditis (IE). Frailty increases surgical risk; however, the prognostic implications of frailty in patients undergoing IE-related surgery remain poorly understood. We aimed to assess the association between frailty and all-cause mortality or rehospitalization after discharge (≥ 14 days).

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There is little research informing appropriate specialty palliative care consultation over primary palliative care practice, or the ability of the burn surgeon to perform skills such as effective goals of care discussions. We sought to characterize patterns of palliative care utilization and hypothesized that greater modified Baux (mBaux) and systemic organ failure assessment (SOFA) scores would correlate with increased specialty palliative involvement but have no relationship with primary palliative involvement. A retrospective chart review was conducted at a regional burn center between 2020-2021 including patients admitted with burns or inhalation injury and a mBaux score over 60, detailing circumstances of palliative consultation and goals of care discussions.

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Trial of Early Minimally Invasive Removal of Intracerebral Hemorrhage.

N Engl J Med

April 2024

From the Departments of Neurosurgery (G. Pradilla, J.A.G., D.L.B.), Emergency Medicine (J.J.R., A.J.H., D.W.W.), Neurology (J.J.R., J.W.A., M. Frankel), and Radiology (J.W.A., X.T.L.), Emory University School of Medicine, and the Marcus Stroke and Neuroscience Center, Grady Memorial Hospital (G. Pradilla, J.J.R., A.J.H., J.A.G., M. Frankel, D.W.W.) - both in Atlanta; Berry Consultants, Austin, TX (B.R.S., G. Paulon, A.M., R.J.L., M. Fitzgerald); the Department of Biostatistics, Vanderbilt University School of Medicine, Nashville (B.R.S.); the Department of Emergency Medicine, Harbor-UCLA Medical Center, Torrance, CA (R.J.L.); the Department of Psychiatry, University of Michigan, Ann Arbor (A.F.C.); the Cerebrovascular Center, Cleveland Clinic, Cleveland (M.B., J.G.); the Department of Neurosurgery, University of Pennsylvania, Philadelphia (B.J.); the Department of Neurological Surgery, University of Pittsburgh, Pittsburgh (G.Z.); the Department of Neurology, Brigham and Women's Hospital, Boston (B.J.M.); the Department of Neurosurgery, State University of New York at Buffalo, Buffalo (J.D., A.S.); the Department of Neurosurgery, University of Missouri, Columbia (M.R.C.), and the Department of Neurology, Washington University, St. Louis (S.G.K.); and the Departments of Neurosurgery (M.V.S., B.N.B.) and Pulmonary and Critical Care Medicine (R.S.), Indiana University, Indianapolis.

Background: Trials of surgical evacuation of supratentorial intracerebral hemorrhages have generally shown no functional benefit. Whether early minimally invasive surgical removal would result in better outcomes than medical management is not known.

Methods: In this multicenter, randomized trial involving patients with an acute intracerebral hemorrhage, we assessed surgical removal of the hematoma as compared with medical management.

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