pakistani type

BACKGROUND: This article is a continuation of the Musafir study published in 2020. Following the results of this study, we designed an educational website with Urdu-speaking volunteers, using a participatory approach. This type of approach aimed at bringing out situated knowledge around taboo/sensitive topics such as sexual and mental health, by considering the cultural, religious, economic, family, and social background of young Urdu-speaking men. This approach allowed us to build culturally-appropriate content matching the needs of targeted population...

INTRODUCTION: After trivalent oral poliovirus vaccine (tOPV) cessation, Pakistan has maintained immunity to type 2 poliovirus by administering inactivated polio vaccine (IPV) in routine immunization, alongside monovalent OPV type 2 (mOPV2) and IPV in supplementary immunization activities (SIAs). This study assesses the change in poliovirus type 2 immunity after tOPV withdrawal and due to SIAs with mOPV2 and IPV among children aged 6-11 months. METHODS: Three cross-sectional sequential serological surveys were conducted in 12 polio high-risk areas of Pakistan...

Constitutional chromosomal abnormalities play a significant role in causing reproductive anomalies in individuals of reproductive age. With the rapid advancement of genome engineering techniques, it has now become possible to cure different genetic disorders. However, very limited data is available regarding the prevalence of such aberrations in the Pakistani population. Considering this factor, this retrospective analysis was undertaken to elucidate the type and prevalence rate of such abnormalities in our population...

OBJECTIVE: To ascertain the frequency of the MLL::AF9 gene rearrangement and its association with survival in Pakistani patients suffering from acute myeloid leukaemia (AML). STUDY DESIGN: Analytical study. Place and Duration of the Study: Department of Haematology, National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, Pakistan, from 2015 to 2020. METHODOLOGY: Patients without a history of past AML chemotherapy, aged from 10 to 75 years, were included...

One of the most uncommon cystic duct abnormalities is double cystic ducts exiting a single gallbladder. Adequate knowledge of this anomaly should be kept in mind to avoid any surgical complications. We present a case of a 49-year-old Asian Pakistani male patient who had an elective laparoscopic cholecystectomy and was discovered to have two distinct cystic ducts leaving the gallbladder. On examination, there were no other clinically relevant signs except for mild tenderness in the right hypochondrium. Ultrasound of the abdomen and pelvis confirmed the diagnosis of cholelithiasis...

Glucose-6-phosphate dehydrogenase (G6PD) deficiency and variants of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene are the most common genetic causes of neonatal unconjugated hyperbilirubinemia (NUH). In this review, we searched PubMed for articles on the genetic causes of NUH published before December 31, 2022, and analyzed the data. On the basis of the results, we reached eight conclusions: (1) 37 mutations of the G6PD gene are associated with NUH; (2) the clinical manifestation of G6PD deficiency depends not only on ethnicity but also on the molecular mechanisms underlying the deficiency (and thus its severity); (3) of mutations in the UGT1A1 gene, homozygous c...

BACKGROUND: Hereditary Tyrosinemia Type 1 (HT1), a rare autosomal recessive metabolic disorder, arises from fumarylacetoacetate (FAH) enzyme deficiency, resulting in toxic metabolite buildup. It manifests in acute, subacute, and chronic forms, with early diagnosis and Nitisinone treatment being vital. OBJECTIVES: The study aims to highlight the different clinical presentations of Hereditary Tyrosinemia type 1 in a cohort of Pakistani children. DESIGN: Retrospective observational study...

BACKGROUND: Immediate implant placement in the maxillary esthetic zone is a challenging and demanding task. To achieve favorable results, proper case selection and treatment planning are necessary. Variables like the sagittal root position (SRP) and the labial bone thickness (LBT) of maxillary anterior teeth are of paramount importance for predictable outcomes. OBJECTIVES: The aim of the present study was to evaluate the SRP and LBT of maxillary anterior teeth in the context of immediate implant placement by using cone-beam computed tomography (CBCT) in a sample of the Pakistani population...

Introduction Non-alcoholic fatty liver disease (NAFLD) is the most prevalent liver condition worldwide. NAFLD has been associated with metabolic syndrome and its symptoms, such as type 2 diabetes, hypertension, dyslipidemia, and obesity. Ultrasound is widely used to grade hepatic steatosis, being the most cost-effective, non-invasive, and readily available modality without radiation exposure. The study aimed to assess the correlation of NAFLD grade as seen on ultrasound with blood parameters in a Pakistani population...

Skeletal dysplasias (SKDs) are a heterogeneous group of more than 750 genetic disorders characterized by abnormal development, growth, and maintenance of bones or cartilage in the human skeleton. SKDs are often caused by variants in early patterning genes and in many cases part of multiple malformation syndromes and occur in combination with non-skeletal phenotypes. The aim of this study was to investigate the underlying genetic cause of congenital SKDs in highly consanguineous Pakistani families, as well as in sporadic and familial SKD cases from India using multigene panel sequencing analysis...

INTRODUCTION: The COVID-19 pandemic has caused untold damage to the socio-economic lives of people all over the world. Research has also demonstrated great inequality in the pandemic experience. In the UK as in many other countries, people from ethnic minority backgrounds and in working-class positions have suffered disproportionately more than the majority group and those in salariat positions in terms of income loss, financial difficulty, and vulnerability to infection. Yet little is known about how people coped in the daily lives and tried to maintain their well-being during the most difficult days of the pandemic through social capital...

BACKGROUND: Male breast cancer (MBC) accounts for 1% of global breast cancer cases. On account of its rarity, very few prospective clinical trials have been carried out on MBC. Pakistan has the highest incidence of breast cancer in Asia, but very limited data are available on MBC. OBJECTIVES: The objective is to determine the clinicopathological characteristics and treatment patterns of MBC in Pakistani population. DESIGN: This is a retrospective cross-sectional study...

BACKGROUND: Acephalic spermatozoa syndrome is a rare type of teratozoospermia causing male infertility due to detachment of the sperm head and flagellum, which precludes fertilization potential. Although loss-of-function variations in several genes, including TSGA10, have been associated with acephalic spermatozoa syndrome, the genetic cause of many cases remains unclear. RESULTS: We recruited a Pakistani family with two infertile brothers who suffered from acephalic spermatozoa syndrome...

Charcot-Marie-Tooth disease type 4G (CMT4G) was first reported in Balkan Gypsies as a myelinopathy starting with progressive distal lower limb weakness, followed by upper limb involvement and prominent distal sensory impairment later in the patient's life. So far, CMT4G has been only reported in European Roma communities with two founder homozygous variants; g.9712G>C and g.11027G>A, located in the 5'-UTR of the HK1 gene. Here, we present the first Iranian CMT4G patient manifesting progressive distal lower limb weakness from 11 years of age and diagnosed with chronic demyelinating sensorimotor polyneuropathy...

The polymorphisms of the Renin-Angiotensin System are related to many disorders like diabetes, cardiovascular disease, and different types of cancer. Among all the polymorphisms related to AGTR1, A1166C has been associated with several disorders, including cardiovascular diseases and breast cancer. This study was conducted to discover the association of AGTR1 polymorphism (A1166C) Renin-Angiotensin and its effect on the development and progression of breast cancer in the Pakistani population. One hundred forty participants, including seventy diagnosed breast cancer patients and seventy healthy individuals, were included in this study and genotyped with an allele-specific polymerase chain reaction...

BACKGROUND: In this study, we have identified multiple mutations in the IL-12R1 gene among Pakistani patients who have inherited them through consanguineous marriages. These patients have experienced severe Bacille-Calmette-Guérin (BCG) infection as well as recurrent tuberculosis. We will demonstrate the pivotal role of interleukin (IL)-12/interferon (IFN)-γ axis in the regulation of mycobacterial diseases. METHODOLOGY: First, we checked the patients' medical records, and then afterward, we assessed interferon-gamma (IFN-γ) production through ELISA...

BACKGROUND AND AIM: Epilepsy stands out as one of the most prevalent neurological conditions. Brivaracetam (BRV) is a noteworthy antiseizure medication (ASM) distinguished by its pronounced and selective interaction with the synaptic vesicle protein 2A (SV2A) within the brain. Prior investigations, including regulatory trials, post-marketing assessments, and comparative meta-analyses, have consistently underscored BRV's equivalency in efficacy and superior tolerability when pitted against other antiseizure drugs...

The most serious type of coronary artery disease (CAD), acute myocardial infarction (AMI), is a major global cause of death. The development of AMI is accompanied by several risk factors. AMI may be caused by variations in the microRNA (miRNA) genes, which have a negative impact on miRNA-mediated regulation of gene expression. The target mRNAs are dysregulated because of these genetic changes in the miRNA genes, which interfere with the vital biological processes that result in AMI. Using allele-specific PCR, the aim of the study is to examine the association of the variants (rs2910164, rs4636297, and rs895819) in MIR146A, MIR126, and MIR27A with AMI susceptibility...

Objectives  The 2021 WHO Classification of Central Nervous System Tumors taxonomy laid further stress on molecular classification and prognostication of glial tumors in comparison to histopathological grading. Research shows that low-grade gliomas (LGGs) can go through malignant differentiation and lead to severe disability and death. Data from various populations will be necessary to ascertain the exact interplay between genotypic predictors of LGG and outcomes. Materials and Methods  To assess the molecular pathology for glial tumors in the Pakistani population, the Shaukat Khanum Memorial Cancer Hospital carried out a retrospective chart review of electronic health records from 2008 to 2018, with immunohistochemistry analysis findings from 2010 to 2018...

Immigrant women of Pakistani origin are among the most at-risk groups for type 2 diabetes, obesity, and heart failure in Catalonia. As the incidence of these diseases is associated with lifestyle factors, we approached this community with participatory research and conducted six focus groups (N = 36) among Pakistani women participating in the PakCat Program. The research process of this paper adhered to the COREQ checklist. Through the thematic analysis, we identified six main themes: social beliefs and attitudes, family environment, personal factors, dietary acculturation, traditional dietary patterns, and economic factors...