Prognostic role of cardiopulmonary exercise testing in wild-type transthyretin amyloid cardiomyopathy patients treated with tafamidis.

Objectives: Tafamidis has demonstrated survival benefits in transthyretin amyloid cardiomyopathy (ATTR-CM), yet variability in therapeutic response underscores the need for reliable tools to predict outcomes. This study evaluates the prognostic utility of cardiopulmonary exercise testing (CPET) in this population.

Methods: This retrospective study included tafamidis treated wild-type (ATTRwt) CM patients who completed CPET.

Evaluating gender-based disparities in the outcomes of impella use in acute myocardial infarction patients with cardiogenic shock; insights from real-world global data.

Introduction: Mechanical circulatory support (MCS) devices, such as the Impella, have become critical tools in managing cardiogenic shock (CS), offering temporary hemodynamic support to improve cardiac output and stabilize patients. This study aimed to evaluate gender-based differences in clinical outcomes following Impella implantation for CS secondary to myocardial infarction (MI).

Methods: Using real-world data from the TriNetX database, all patients with CS secondary to MI who underwent Impella implantation were identified and then divided into two cohorts based on gender.

'I don't know when it's my turn': reasons for low uptake of cancer-related healthcare services in Germany.

Background: Participation rates in early cancer detection and follow-up cancer related healthcare services are lower than anticipated in many high-income countries. Germany also provides a variety of these services free-of-charge under its highly subsidized public healthcare system. This qualitative study aimed to determine the barriers perceived or experienced by service users in Germany against utilizing cancer screenings and treatment services.

Nationwide Trends in Stroke Among Patients Undergoing Hemodialysis by Sex and Race: An Analysis From the US Renal Database.

Background: The risk of ischemic stroke hospitalization in patients with end-stage kidney disease has declined over time, but data are limited, especially for hemorrhagic stroke trends. Race- and sex-based differences have not been well studied.

Methods And Results: We conducted a retrospective cohort study using the US Renal Data System to examine the incidence of stroke among incident patients undergoing hemodialysis from 2006 to 2016.

Endovascular Abdominal Aortic Aneurysm Repair.

A great majority of abdominal aortic aneurysm are treated with endovascular aortic repair (EVAR) in current practice. EVAR has lower peri-procedural mortality and morbidity compared to open surgical repair. Anatomic factors such as aneurysm neck morphology, iliac anatomy, and access vessel anatomy need careful assessment for the successful performance of EVAR.

Angiosarcoma associated with Kasabach-Merritt syndrome presenting with typical signs and symptoms of pulmonary tuberculosis: a case report.

Background: Angiosarcoma is a rapidly proliferating vascular tumor that originates in endothelial cells of vessels. Rarely, it can be associated with consumptive coagulopathy due to disseminated intravascular coagulation eventually leading to thrombocytopenia and microangiopathic hemolytic anemia. This specific manifestation is termed Kasabach-Merritt syndrome.

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have been described in only six individuals carrying five biallelic predicted loss-of-function (pLOF) variants.

Trends in utilization and impact of hospital procedural volume on mortality after endovascular thrombectomy for acute ischemic stroke.

Objectives: Endovascular thrombectomy (EVT) has become an established treatment for eligible acute ischemic stroke (AIS) patients, but data on mortality trends and the association between procedural volume and outcomes in the United States is limited.

Materials And Methods: This retrospective study analyzed data from the Nationwide Readmissions Database (NRD) to investigate trends in EVT utilization, outcomes, and the relationship between hospital procedural volume and inpatient mortality for AIS admissions between 2016-2020. Patients undergoing EVT were identified using ICD-10 procedure codes.

Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients.

Congenital heart defects (CHD) appear in almost one percent of live births. Asian countries have the highest birth prevalence of CHD in the world. Recessive genotypes may represent a CHD risk factor in Asian populations with a high degree of consanguineous marriages.

Cardiac thrombus in acute ischemic stroke: impact on endovascular thrombectomy utilization.

Cardiac embolism plays a very significant role in acute ischemic strokes (AIS), constituting approximately one-third of cases. The origin of these emboli often stems from intracardiac thrombi in the left atrium or left ventricle. Utilizing the National Readmission Database from 2016 to 2019, we investigate the prevalence of cardiac thrombi in AIS patients and explore their potential correlation with endovascular thrombectomy (EVT) utilization, and mortality rates.

Analytical approaches and advancement in the analysis of natural and synthetic fiber: A comprehensive review.

Background: Accurately determining fiber composition is essential for optimizing material properties across diverse applications in textiles, composites, packaging, and other bio-based materials. Fiber performance in textiles, composites, and bio-based materials depends upon their intricate composition. This review explores advanced analytical techniques for the comprehensive characterization of natural (cellulose-hemicellulose-lignin) and synthetic (polymeric) fibers.

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Erythrocyte membrane protein band 4.1 like 3 (EPB41L3: NM_012307.5), also known as DAL1, encodes the ubiquitously expressed, neuronally enriched 4.

New-onset diabetes mellitus in patients with COVID19 infection admitted to a tertiary care hospital: A single-center experience.

Objective: To determine the frequency of new-onset diabetes mellitus (NODM) in patients with COVID-19 in a tertiary care hospital.

Method: It was a retrospective descriptive study carried out in Lady Reading Hospital Peshawar, Khyber Pakhtunkhwa province of Pakistan from November 2021 to April 2022. All patients having new onset Diabetes Mellitus (NODM) were identified among a total of 300 patients admitted to the hospital with COVID-19 infection.

Living Donor Liver Transplantation for Adult Hepatic Undifferentiated Embryonal Sarcoma: A Case Report.

Introduction: Undifferentiated embryonal sarcoma of the liver (UESL) is an aggressive tumor. There is no established treatment, and it is an uncommon tumor in adults. Treatment usually involves a combination of surgery, chemotherapy, and occasionally liver transplantation (LT).

Redefining a new frontier in alkaptonuria therapy with AI-driven drug candidate design via innovation.

A rare metabolic condition called alkaptonuria (AKU) is caused by a decrease in homogentisate 1,2 dioxygenase (HGO) activity due to a mutation in homogentisate dioxygenase (HGD) gene. Homogentisic acid is a byproduct of the catabolism of tyrosine and phenylalanine that darkens the urine and accumulates in connective tissues which causes an agonizing arthritis. Employing the use of deep learning artificial intelligence (AI) drug design, this study aims to alleviate the current toxicity of the AKU drugs currently in use, particularly nitisinone, by utilizing the natural flavanol kaempferol molecule as a 4-hydroxyphenylpyruvate dioxygenase inhibitor.

General Practitioners' Experience of Remote Consultations by Telephone in the General Practice Setting during the COVID-19 Pandemic.

The coronavirus disease 2019 (COVID 19) pandemic brought substantial changes in the way doctors used to interact with patients. In the general practice, consultation over the phone has become a norm now. However, it is not well known how this new mode of consultation affected clinicians' practices.

Educational climate of a pathology residency program at a tertiary care hospital.

Evaluating educational climate (EC) is imperative for ensuring postgraduate trainees' competencies and quality in residency training programs. This study assessed the EC experiences of pathology postgraduate residents (PGRs) during their postgraduate training in pathology residency programs-a cross-sectional study design assigned EC scores in the pathology residency program at a prestigious institution in Islamabad, which were measured using the Dutch Residency Educational Climate Test (D-RECT) questionnaire. Scores from the D-RECT were employed to conduct descriptive statistics and comparison of means across groups to evaluate EC scores by years of training and compared to assess where the differences were located.

Abrogation of ORF8-IRF3 binding interface with Carbon nanotube derivatives to rescue the host immune system against SARS-CoV-2 by using molecular screening and simulation approaches.

The COVID-19 pandemic, caused by the SARS-CoV-2 virus, has led to over six million deaths worldwide. In human immune system, the type 1 interferon (IFN) pathway plays a crucial role in fighting viral infections. However, the ORF8 protein of the virus evade the immune system by interacting with IRF3, hindering its nuclear translocation and consequently downregulate the type I IFN signaling pathway.

Individualisation, personalisation and person-centredness in mental healthcare: a scoping review of concepts and linguistic network visualisation.

Background: Targeted mental health interventions are increasingly described as individualised, personalised or person-centred approaches. However, the definitions for these terms vary significantly. Their interchangeable use prevents operationalisations and measures.

Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.

Biallelic variants in genes for seven out of eight subunits of the conserved oligomeric Golgi complex (COG) are known to cause recessive congenital disorders of glycosylation (CDG) with variable clinical manifestations. COG3 encodes a constituent subunit of the COG complex that has not been associated with disease traits in humans. Herein, we report two COG3 homozygous missense variants in four individuals from two unrelated consanguineous families that co-segregated with COG3-CDG presentations.

Comparison of Rapid Antigen Detection Test with Reverse Transcription Polymerase Chain Reaction in Highly Suspected COVID-19 Patients.

Objective: To compare Rapid Antigen Test (RAT) with Reverse Transcription Polymerase Chain Reaction (RT-PCR) in highly suspected COVID-19 patients and to determine its diagnostic parameters.

Study Design: Hospital-based, descriptive/observational study. Place and Duration of the Study: Department of Medicine/COVID Complex, Medical Teaching Institution/Lady Reading Hospital, Peshawar, Khyber Pakhtunkhwa, Pakistan, from October 2021 to April 2022.