6,065,763 results match your criteria: "Conceição Hospital[Affiliation]"

Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport Syndrome.

Nephrol Dial Transplant

January 2025

Department of Nephrology, Kidney Transplantation and Dialysis, CHU Lille, University of Lille, Lille, France.

Background And Hypothesis: Unlike X-linked or autosomal recessive Alport Syndrome, no clear genotype/phenotype correlation has yet been demonstrated in patients carrying a single variant of COL4A3 or COL4A4.

Methods: We carried out a multicenter retrospective study to assess the risk factors involved in renal survival in patients presenting a single pathogenic variant on COL4A3 or COL4A4.

Results: 97 patients presenting a single pathogenic variant of COL4A3 or COL4A4 were included.

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Feasibility and preliminary efficacy of a physical activity intervention in adults with lymphoma undergoing treatment.

Pilot Feasibility Stud

January 2025

Department of Internal Medicine - Cardiology, Virginia Commonwealth University, West Hospital 8th Floor, North Wing, Richmond, VA, 23298, USA.

Background: To determine the feasibility, acceptability, and preliminary efficacy of a 6-month tailored non-linear progressive physical activity intervention (PAI) for lymphoma patients undergoing chemotherapy.

Methods: Patients newly diagnosed with lymphoma (non-Hodgkin (NHL) or Hodgkin (HL)) were randomized into the PAI or healthy living intervention (HLI) control (2:1). Feasibility was assessed by examining accrual, adherence, and retention rates.

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Background: Dialectical behavioral therapy (DBT) and repetitive transcranial magnetic stimulation (rTMS) are both effective in treating borderline personality disorder (BPD). Impulsivity and impaired decision-making are prominent features of BPD, and therapeutic interventions targeting these symptoms could lead to significant improvements.

Objective/hypothesis: We hypothesized that intermittent theta burst stimulation (iTBS), a modified rTMS protocol that targets the left dorsolateral prefrontal cortex, would enhance the therapeutic effects of DBT, leading to greater improvements in impulsivity and decision-making compared with sham stimulation.

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High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.

Hum Genomics

January 2025

Department of Endocrine and Metabolic Diseases, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.

Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.

Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.

Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).

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Deproteinized Bovine Bone Mineral With Collagen for Anterior Maxillary Ridge Augmentation: A Retrospective Cohort Study.

Clin Implant Dent Relat Res

February 2025

Department of Implantology, The Affiliated Hospital of Stomatology, School of Stomatology, Zhejiang University School of Medicine, Hangzhou, China.

Objectives: This study aimed to assess the effects of deproteinized bovine bone mineral with collagen (DBBMC) combined with deproteinized bovine bone mineral (DBBM) on facial alveolar bone augmentation in the anterior maxillary region.

Materials And Methods: Patients receiving dental implant placement with simultaneous lateral bone augmentation using DBBM (control group) or DBBMC combined with DBBM (test group) were included in the study. The radiographic assessment of facial alveolar bone, such as facial horizontal bone thickness (FHBT), facial vertical bone level (FVBL), and square of facial bone (SFB), was taken by cone beam computed tomography (CBCT).

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Background: Infectious diseases, particularly parasitic infections such as toxoplasmosis, contribute significantly to the morbidity and mortality of hemodialysis patients. Toxoplasma gondii infection poses serious risks, especially to immunocompromised individuals. This study aimed to assess the prevalence of latent toxoplasmosis in dialysis patients in Markazi Province, Iran.

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Background: Wound repair methods are commonly used in clinical practice, such as skin graft and flap repair, which can cause secondary injuries, and high costs. Many methods for skin stretching and repair have been reported domestically and internationally. However, their clinical use is limited owing to lack of equipment, complexity, and high costs.

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Time to neonatal mortality and its predictors among preterm neonates admitted to the neonatal intensive care unit in northern Ethiopia, 2023/2024: a retrospective cohort study.

Arch Public Health

January 2025

Department of Maternity and Neonatal Nursing, School of Nursing, College of Health Sciences, Comprehensive Specialized Hospital, Aksum University, Aksum, Tigray, Ethiopia.

Background: A preterm neonate is defined by the World Health Organization as a child delivered before 37 weeks of gestation. In low- and middle-income countries, including Ethiopia, preterm-related complications are serious health problems due to increases in the mortality and morbidity of newborns and children under 5 years of age. The aim of this study was to assess the time to neonatal mortality and its predictors among preterm neonates admitted to the neonatal intensive care unit in northern Ethiopia, 2023/2024.

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Background: The pathogenesis of non-alcoholic fatty liver disease (NAFLD) with a global prevalence of 30% is multifactorial and the involvement of gut bacteria has been recently proposed. However, finding robust bacterial signatures of NAFLD has been a great challenge, mainly due to its co-occurrence with other metabolic diseases.

Results: Here, we collected public metagenomic data and integrated the taxonomy profiles with in silico generated community metabolic outputs, and detailed clinical data, of 1206 Chinese subjects w/wo metabolic diseases, including NAFLD (obese and lean), obesity, T2D, hypertension, and atherosclerosis.

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Maximal oxygen uptake (VOmax) in healthy subjects is primarily limited by systemic oxygen delivery. In chronic kidney disease (CKD), VOmax is potentially reduced by both central and peripheral factors. We aimed to investigate the effect on VOpeak of adding arm exercise to leg exercise.

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Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.

Alzheimers Res Ther

January 2025

Department of Neuroscience "Rita Levi Montalcini", University of Turin, Via Cherasco 15, Turin, 10126, Italy.

Background: Alzheimer's disease (AD) is a progressive neurodegenerative disorder with both genetic and environmental factors contributing to its pathogenesis. While early-onset AD has well-established genetic determinants, the genetic basis for late-onset AD remains less clear. This study investigates a large Italian family with late-onset autosomal dominant AD, identifying a novel rare missense variant in GRIN2C gene associated with the disease, and evaluates the functional impact of this variant.

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Introduction: Prosthetic joint infection (PJI) is one of the most common and detrimental complications of total knee replacement arthroplasty (TKA). Despite extensive efforts, including two-stage reimplantation, to eradicate PJI, it still recurs in a substantial number of patients. However, the risk factors of recurrence after two-stage reimplantation of the knee have not been established.

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Background: Humanitarian crises bring unique, and potentially growing challenges to people with type 1 diabetes (T1D). We aimed to determine, in youth with T1D (mean age (± 1SD) 0-17.9 years) within and coming from humanitarian crises settings (HCS), the reported prevalence that meet international consensus targets for glycaemic, blood pressure and lipid management, and incidence of severe hypoglycaemia or diabetic ketoacidosis.

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Background: Repair of the regurgitant bicuspid aortic valve is an attractive alternative to valve replacement. Although good long-term outcomes have been reported, postoperative aortic stenosis remains a major late cause of repair failure in bicuspid aortic valves. Sinus plication is effective for creating a more symmetrical commissural angle, leading to a decrease in the mean transvalvular pressure gradient.

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Background: Pancreatic ductal adenocarcinoma (PDAC) is a highly aggressive cancer with limited treatment options and a poor prognosis. The critical role of epigenetic alterations such as changes in DNA methylation, histones modifications, and chromatin remodeling, in pancreatic tumors progression is becoming increasingly recognized. Moreover, in PDAC these aberrant epigenetic mechanisms can also limit therapy efficacy.

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Background: Motor vehicle crashes are the second leading cause of injury death among adults aged 65 and older in the U.S., second only to falls.

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Patient safety is the foundation of spine surgery, where the intricate nature of spinal procedures and the unique risks involved call for exceptional diligence and comprehensive protocols. In this high-stakes field, developing and implementing rigorous safety protocols is not only vital for minimizing complications but also for achieving the best possible outcomes and strengthening the confidence patients have in their care team. Each patient entrusts their well-being to their surgical team.

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Background: Dysfunction in podocyte mitophagy has been identified as a contributing factor to the onset and progression of diabetic nephropathy (DN), and BMAL1 plays an important role in the regulation of mitophagy. Thus, this study intended to examine the impact of BMAL1 on podocyte mitophagy in DN and elucidate its underlying mechanisms.

Materials And Methods: High D-glucose (HG)-treated MPC5 cells was used as a podocyte injury model for investigating the potential roles of BMAL1 in DN.

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The thrombolytic protease tissue plasminogen activator (tPA) is expressed in the CNS, where it regulates diverse functions including neuronal plasticity, neuroinflammation, and blood-brain-barrier integrity. However, its role in different brain regions such as the substantia nigra (SN) is largely unexplored. In this study, we characterize tPA expression, activity, and localization in the SN using a combination of retrograde tracing and β-galactosidase tPA reporter mice.

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Background: Advanced gastric cancer (GC) exhibits a high recurrence rate and a dismal prognosis. Myocyte enhancer factor 2c (MEF2C) was found to contribute to the development of various types of cancer. Therefore, our aim is to develop a prognostic model that predicts the prognosis of GC patients and initially explore the role of MEF2C in immunotherapy for GC.

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Background: Pathological regression grade after chemotherapy evaluated by surgically resected specimens is closely related with prognosis. Since usefulness of measuring the area of the residual tumor (ART) has been reported, this study aimed to evaluate the utility of ART in predicting the prognosis of patients with gastric cancer (GC) who received preoperative chemotherapy.

Methods: This single-center retrospective study examined the relationship between ART and survival outcomes.

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Integrated analysis of the prevalence and influencing factors of poststroke dysphagia.

Eur J Med Res

January 2025

Clinical Research and Big Data Center, South China Research Center for Acupuncture and Moxibustion, Medical College of Acu-Moxi and Rehabilitation, Guangzhou University of Chinese Medicine, Guangzhou, China.

Objectives: Poststroke dysphagia (PSD) is a common complication after stroke but there is limited information on its global prevalence and influencing factors, such as spatial, temporal, demographic characteristics, and stroke-related factors. Our study seeks to fill this knowledge gap by exploring the overall prevalence of PSD and its influencing factors.

Methods: A search of English-language literature from database inception from 2005 until May 2022 was performed using PubMed, Embase, Web of Science, Cochrane Library, and Scopus.

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Poikiloderma with neutropenia: a case report.

J Med Case Rep

January 2025

Department of Pediatrics, University Children Hospital, Damascus University, Damascus, Syria.

Background: Poikiloderma with neutropenia is a rare genetic disorder primarily characterized by the presence of poikiloderma and congenital chronic neutropenia. Mutations in the C16orf57 gene, which encodes the USB1 protein, are implicated as the underlying cause of poikiloderma with neutropenia.

Case Presentation: Our patient, an 11-year-old Syrian male child who presented with poikiloderma, palmoplantar keratoderma, pachyonychia, recurrent infections, and neutropenia, is considered to be the first documented case in Syria.

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Background: Whether the intake of whole grain foods can protect against lung cancer is a long-standing question of considerable public health import, but the epidemiologic evidence has been limited. Therefore we aim to investigate the relationship between whole grain food consumption and lung cancer in the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO) cohort.

Methods: Diet was assessed with a self-administered Diet History Questionnaire (DHQ) at baseline.

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Transcriptome sequencing reveals regulatory genes associated with neurogenic hearing loss.

BMC Med Genomics

January 2025

Department of Otolaryngology, First Affiliated Hospital of Kunming Medical University, 295 Xichang Road, WuHua District, Kunming City, Yunnan Province, China.

Hearing loss is a prevalent condition with a significant impact on individuals' quality of life. However, comprehensive studies investigating the differential gene expression and regulatory mechanisms associated with hearing loss are lacking, particularly in the context of diverse patient samples. In this study, we integrated data from 10 patients across different regions, age groups, and genders, with their data retrieved from a public transcriptome database, to explore the molecular basis of hearing loss.

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