Analysis of serum lead, copper, iron, and zinc and hematological parameters in battery smelting workers: assessing lead toxicity.

The present study is conducted to know the serum lead, copper, iron, and zinc levels, in parallel to hematological parameters, in battery smelting workers to assess lead toxicity. Battery smelting is known to expose workers to high levels of lead, which can have significant negative health effects. Blood samples from 150 participants, including 75 battery smelting workers and 75 controls, were analyzed for metal concentrations and hematological indices.

Glanzmann Thrombasthenia in Pakistani Patients: Identification of 7 Novel Pathogenic Variants in the Fibrinogen Receptor αIIbβ3.

Glanzmann thrombasthenia (GT) is a rare autosomal recessive inherited platelet disorder occurring frequently in populations with high incidence of consanguineous marriages. GT is characterized by quantitative and/or qualitative defect of the platelet αIIbβ3 (GPIIb/IIIa) receptor caused by pathogenic variants of the encoding genes: and . Patients present with a moderate to severe bleeding tendency with normal platelet count.

Air Leak Syndrome In Patients With Severe Covid Pneumonia.

Abstract: There are number of emerging studies that link the air leak syndrome (ALS) with COVID 19 disease but still data to explain the association, incidence and outcome in these patients is lacking. We aim to understand the risk factors and clinical outcome of these air leakage events in COVID 19 patients admitted to our institution.

Methods: This is a single-centered case series conducted at the COVID unit of the SMBBIT in Karachi, Pakistan.

The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.

Background: Myelodysplastic syndromes (MDS) are clonal disorders of hematopoietic stem cells exhibiting ineffective hematopoiesis and tendency for transformation into acute myeloid leukemia (AML). The available karyotyping and fluorescent in situ hybridization provide limited information on molecular abnormalities for diagnosis/prognosis of MDS. Next generation DNA sequencing (NGS), providing deep insights into molecular mechanisms being involved in pathophysiology, was employed to study MDS in Pakistani cohort.

Sequencing of SARS-CoV-2 in local transmission cases through Oxford Nanopore MinION platform from Karachi Pakistan.

Introduction: The first case of severe acute respiratory syndrome 2 (SARS-CoV-2) was imported to Pakistan in February 2020, since then 8,260 deaths have been witnessed. The virus has been constantly mutating and local transmission cases from different countries vary due to host dependent viral adaptation. Many distinct clusters of variant SARS-CoV-2 have been defined globally.

Usefulness of convalescent plasma transfusion for the treatment of severely ill COVID-19 patients in Pakistan.

Background: Convalescent plasma(CP) was utilized as potential therapy during COVID-19 pandemic in Pakistan. The study aimed at appraisal of CP transfusion safety and usefulness in COVID pneumonia.

Methods: Single arm, MEURI study design of non-randomized open label trial was conducted in five centers.

von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention.

von Willebrand disease (VWD), the most prevalent congenital bleeding disorder, arises from a deficiency in von Willebrand factor (VWF), which has crucial roles in hemostasis. The present study investigated functional consequences and underlying pathomolecular mechanisms of several VWF propeptide (VWFpp) missense variants detected in our cohort of VWD patients for the first time. Transient expression experiments in HEK293T cells demonstrated that four out of the six investigated missense variants (p.

Clinical Characteristics and Outcome of Patients With Severe COVID-19 Pneumonia at a Public Sector Hospital in Karachi, Pakistan.

Introduction: In Pakistan, the first case of COVID-19 was reported in February of 2020, cases peaked in June, and by January 2021, approximately 500,000 confirmed cases and over 10,000 deaths have been reported. There is a lack of data in Pakistan of the demographics, clinical characteristics, and outcome of patients with COVID-19 pneumonia, particularly those with severe illness, which we aim to assess.

Methods: This is a single-centered, observational study conducted at the COVID unit of the Shaheed Mohtarma Benazir Bhutto Institute of Trauma in Karachi, Pakistan.

TET2 mutations in acute myeloid leukemia: a comprehensive study in patients of Sindh, Pakistan.

Background: The tet oncogene family member 2 () gene has been reported to be involved in DNA methylation and epigenetic regulation in acute myeloid leukemia (AML). Various studies have proven functional role of mutations in AML. We herein studied the frequency and genotype-phenotype correlation of gene in AML patients in Sindh, Pakistan.

Clinical phenotype, fibrinogen supplementation, and health-related quality of life in patients with afibrinogenemia.

Due to the low prevalence of afibrinogenemia, epidemiologic data on afibrinogenemia are limited, and no data are available on health-related quality of life (HRQoL). We conducted a cross-sectional international study to characterize the clinical features, the fibrinogen supplementation modalities, and their impact on HRQoL in patients with afibrinogenemia. A total of 204 patients (119 adults and 85 children) from 25 countries were included.

Seroprevalence of anti-SARS-CoV-2 antibodies in residents of Karachi-challenges in acquiring herd immunity for COVID 19.

Background: The recent pandemic by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a global emergency. There is large number of asymptomatic cases of SARS-CoV-2 that are not reported. Hence, serological evidence of SARS-CoV2 antibodies is warranted for a better estimation of the actual number of infected patients to limit the disease spread and to get an idea of herd immunity.

Meta-Analysis of Inclisiran for the Treatment of Hypercholesterolemia.

Statin therapy is the gold standard for hypercholesterolemia. However, a significant number of patients cannot achieve their target low-density lipoprotein (LDL) levels despite a maximal dose of statin therapy, and some cannot tolerate statins at all. Approval of proprotein convertase subtilisin/kexin type 9 inhibitors has been revolutionary for those patients.

Characterization of the mutation spectrum in a Pakistani cohort of type 3 von Willebrand disease.

Introduction: Type 3 von Willebrand disease (VWD), a severe autosomal recessive hereditary bleeding disorder, is described by the virtual absence of von Willebrand factor (VWF). In consanguineous populations, for example Pakistan, the disease is reported with a higher incidence rate than the worldwide prevalence.

Aims: This study aims to characterize molecular pathology and clinical profile of type 3 VWD cohort of Pakistani origin.

Correction to: Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population.

[This corrects the article DOI: 10.1186/s12959-017-0143-3.].

Bivalirudin with a post-procedure infusion versus heparin monotherapy for the prevention of stent thrombosis.

Objectives: To evaluate the efficacy of post-primary percutaneous coronary intervention (PCI) bivalirudin infusion (at full PCI dose) to prevent stent thrombosis (ST) compared with heparin monotherapy.

Background: Early randomized controlled trials (RCTs) have shown that compared with heparin use, bivalirudin use during primary PCI is associated with an increased risk of ST. However, bivalirudin was stopped in those trials at the end of the procedure and glycoprotein IIb/IIIa inhibitors (GPIs) were routinely used with heparin.

Evaluation of efficacy of serological methods for detection of HCV infection in blood donors: A single centre experience.

Background And Objective: Blood transfusion is an essential and life-saving medical intervention. Despite multiple preventive measures transfusion-transmitted hepatitis C virus (HCV) infection continues to be a major healthcare issue in Pakistan. This study was conducted at National Institute of Blood Diseases & Bone Marrow Transplantation to evaluate the frequency of active HCV infection with or without co-infection in blood donors and also to determine comparative efficacy of Multisure HCV antibody assay (MHAA); a new serological device.

Laboratory diagnosis for thalassemia intermedia: Are we there yet?

Background: Differentiation between thalassemia major and thalassemia intermedia at presentation is not uniformly characterized, for which an absolute criteria needs to be developed. This study investigated the primary and secondary genetic modifiers to develop a laboratory finding by forming different genetic mutational combinations seen among thalassemia intermedia patients and comparing them with thalassemia major.

Methods: This cross-sectional study analyzed 315 thalassemia intermedia patients.

Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population.

Background: Congenital afibrinogenemia (OMIM #202400) is a rare coagulation disorder that was first described in 1920. It is transmitted as an autosomal recessive trait that is characterized by absent levels of fibrinogen (factor I) in plasma. Consanguinity in Pakistan and its neighboring countries has resulted in a higher number of cases of congenital fibrinogen deficiency in their respective populations.

Diagnosis and phenotypic assessment of Pakistani Haemophilia B carriers.

Objectives: 1: To assess the diagnostic utility of three polymorphisms (DdeI, XmnI and TaqI) and direct sequencing in haemophilia B (HB) carrier detection in Pakistani families. 2: To compare phenotypes of HB carriers with those of healthy females.

Methods: The study was conducted from March 2014 till February 2016 at Khyber Medical University Peshawar and National Institute of Blood Diseases, Karachi.

Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B.

This study aimed to (1) identify F9 genetic alterations in patients with hemophilia B (HB) of Pakistani origin and (2) determine the genotype-phenotype relationships in these patients. Diagnosed cases of HB were identified through registries at designated tertiary health-care centers across the country. Consenting patients were enrolled into the study.

Personality traits in psychogenic nonepileptic seizures (PNES) and psychogenic movement disorder (PMD): Neuroticism and perfectionism.

Objective: Psychogenic movement disorder (PMD) and psychogenic nonepileptic seizures (PNES) are two subtypes of conversion disorder (CD). In this case-control study, we asked whether these subtypes varied as a function of personality and history of childhood abuse.

Methods: Fifty-nine patients with PMD from the Human Motor Control Section Clinic at the National Institutes of Health, 43 patients with PNES from the Rhode Island Hospital Neuropsychiatry and Behavioral Neurology Division, and 26 healthy volunteers (HC) received a battery of neurological, psychiatric and psychological assessments, including the NEO Personality Inventory Revised (NEO PI-R), the Childhood Trauma Questionnaire (CTQ), and the Traumatic Life Events Questionnaire (TLEQ).