Multiple morphological abnormalities of the sperm flagella (MMAF) is a specific type of asthenoteratozoospermia, presenting with multiple morphological anomalies in spermatozoa, such as absent, bent, coiled, short, or irregular caliber flagella. Previous genetic studies revealed pathogenic mutations in genes encoding cilia and flagella-associated proteins (CFAPs; e.g., CFAP43, CFAP44, CFAP65, CFAP69, CFAP70, and CFAP251) responsible for the MMAF phenotype in infertile men from different ethnic groups. However, none of them have been identified in infertile Pakistani males with MMAF. In the current study, two Pakistani families with MMAF patients were recruited. Whole-exome sequencing (WES) of patients and their parents was performed. WES analysis reflected novel biallelic loss-of-function mutations in CFAP43 in both families (Family 1: ENST00000357060.3, p.Arg300Lysfs*22 and p.Thr526Serfs*43 in a compound heterozygous state; Family 2: ENST00000357060.3, p.Thr526Serfs*43 in a homozygous state). Sanger sequencing further confirmed that these mutations were segregated recessively in the families with the MMAF phenotype. Semiquantitative reverse-transcriptase polymerase chain reaction (qRT-PCR) was carried out to detect the effect of the mutation on mRNA of the affected gene. Previous research demonstrated that biallelic loss-of-function mutations in CFAP43 accounted for the majority of all CFAP43-mutant MMAF patients. To the best of our knowledge, this is the first study to report CFAP43 biallelic loss-of-function mutations in a Pakistani population with the MMAF phenotype. This study will help researchers and clinicians to understand the genetic etiology of MMAF better.
Adolescent ; Adult ; Humans ; Infertility, Male/epidemiology* ; Loss of Function Mutation/genetics* ; Male ; Microtubule Proteins/genetics* ; Middle Aged ; Pakistan/epidemiology* ; Sperm Tail/physiology*

A retrospective study was performed to report the case occurrence of cystic echinococcosis (CE) in three hospitals of north-eastern region in Punjab Province, Pakistan. We reviewed retrospectively the clinical records of patients in 4 hospitals which were diagnosed with CE during 2012–2017. A total of 198 cases, 82 (41.4%) male and 116 (58.6%) females were detected as CE. The most Highest incidence was revealed in.... 21–30 years-old group (24.2%) followed by 41–50 (22.7%), 31–40 (16.2%), 11–20 (13.6%), 51–60 (8.1%), below 10 (5.5%), over 71 (5.1%) and 61–70 year-old group (4.5%). CE was detected in various organs of infected individuals. However, most of CE cases were detected in the liver (47.4%) and lung (18.6%). The present study indicated that CE is more or less prevalent in surveyed areas and one of the most important public health problems in Punjab Province, Pakistan.
Echinococcosis ; Epidemiology ; Female ; Humans ; Incidence ; Liver ; Lung ; Male ; Pakistan ; Public Health ; Retrospective Studies

Asia, which holds 60% of the world’s population, comprises some developing countries which are in economic transition. This paper reviews the epidemiology of stroke in South, East and South-East Asia. Data on the epidemiology of stroke in South, East, and South-East Asia were derived from the Global Burden of Disease study (mortality, disability-adjusted life-years [DALYs] lost because of stroke), World Health Organization (vascular risk factors in the community), and publications in PubMed (incidence, prevalence, subtypes, vascular risk factors among hospitalized stroke patients). Age- and sex-standardized mortality is the lowest in Japan, and highest in Mongolia. Community-based incidence data of only a few countries are available, with the lowest rates being observed in Malaysia, and the highest in Japan and Taiwan. The availability of prevalence data is higher than incidence data, but different study methods were used for case-finding, with different age bands. For DALYs, Japan has the lowest rates, and Mongolia the highest. For community, a high prevalence of hypertension is seen in Mongolia and Pakistan; diabetes mellitus in Papua New Guinea, Pakistan, and Mongolia; hypercholesterolemia in Japan, Singapore, and Brunei; inactivity in Malaysia; obesity in Brunei, Papua New Guinea, and Mongolia; tobacco smoking in Indonesia. Hypertension is the most frequent risk factor, followed by diabetes mellitus and smoking. Ischemic stroke occurs more frequently than hemorrhagic stroke, and subarachnoid hemorrhages are uncommon. There are variations in the stroke epidemiology between countries in South, East, and South-East Asia. Further research on stroke burden is required.
Asia* ; Brunei ; Cerebrovascular Disorders ; Developing Countries ; Diabetes Mellitus ; Epidemiology* ; Hypercholesterolemia ; Hypertension ; Incidence ; Indonesia ; Japan ; Malaysia ; Mongolia ; Mortality ; Obesity ; Pakistan ; Papua New Guinea ; Prevalence ; Risk Factors ; Singapore ; Smoke ; Smoking ; Stroke* ; Subarachnoid Hemorrhage ; Taiwan ; World Health Organization

From 2013 to 2015, the National Institute of Health, Pakistan, received 1,270 blood samples of suspected dengue cases reported from inpatient and outpatient departments of various hospitals in Khyber Pakhtunkhwa (KPK) province. In this study, we determined the circulating dengue virus (DENV) serotypes using real-time reverse transcriptase (RT)-PCR to understand the serotype-based epidemiology of DENV. All four serotypes (DENV-1 [6%], DENV-2 [33%], DENV-3 [47%], and DENV-4 [0.1%]) were found circulating during the study period. Our findings suggest the need for an active surveillance system coupled with the laboratory diagnosis, especially in the chronic endemic areas of the country. Public awareness programs are needed for effective control and prevention of outbreaks in the future.
Adolescent ; Adult ; Dengue/diagnosis/*epidemiology/virology ; Dengue Virus/genetics/*isolation & purification ; Disease Outbreaks ; Female ; Humans ; Male ; Middle Aged ; Pakistan/epidemiology ; RNA, Viral/genetics/metabolism ; Real-Time Polymerase Chain Reaction ; Serogroup ; Young Adult

PURPOSE: In Pakistan, courses in pharmacy practice, which are an essential component of the PharmD curriculum, were launched with the aim of strengthening pharmacy practice overall and enabling pharmacy students to cope with the challenges involved in meeting real-world healthcare needs. Since very little research has assessed the efficacy of such courses, we aimed to evaluate students' perceptions of pharmacy practice courses and their opinions about whether their current knowledge of the topics covered in pharmacy practice courses is adequate for future practice. METHODS: A cross-sectional study was conducted over two months among the senior pharmacy students of two pharmacy colleges. A content- and face-validated questionnaire was used to collect data, which were then analysed using SPSS version 20. Descriptive analysis and logistic regression were performed. RESULTS: Research in pharmacy practice (30.2%), applied drug information (34.4%), health policy (38.1%), public health and epidemiology (39.5%), pharmacovigilance (45.6%), and pharmacoeconomics (47.9%) were the major courses that were covered to the least extent in the PharmD curriculum. However, hospital pharmacy practice (94.4%), pharmacotherapeutics (88.8%), and community pharmacy practice (82.8%) were covered well. Although 94% of students considered these courses important, only 37.2% considered themselves to be competent in the corresponding topics. Of the participants, 87.9% agreed that the pharmacy courses in the present curriculum should be redesigned. CONCLUSION: Our results showed that the pharmacy practice courses in the current PharmD curriculum do not encompass some important core subjects. A nationwide study is warranted to further establish the necessity for remodelling pharmacy practice courses in Pakistan.
Cross-Sectional Studies ; Curriculum ; Delivery of Health Care ; Economics, Pharmaceutical ; Education, Pharmacy ; Epidemiology ; Health Policy ; Humans ; Logistic Models ; Pakistan* ; Pharmacies ; Pharmacovigilance ; Pharmacy* ; Public Health ; Students, Pharmacy*

PURPOSEFirearm injuries impose a continuous economic burden on society and hospital resources. The aim of this study was to assess the pattern of bony injuries among victims of gunshots.

METHODSA retrospective study was conducted in the Department of Orthopedics, Dow University of Health Sciences and Civil Hospital Karachi from January 2011 to December 2012. Patients with isolated bony injuries were included while patients with other systemic injuries were excluded.

RESULTSThere were 90 cases and the majority of them were male (84.4%). Mean age was (32.52 ± 10.27) years. Most of the patients (72.2%) belong to the younger age group. A low velocity weapon was used in 61 (67.8%) cases and a high velocity weapon was used in 29 (32.2%) cases. Armed robbery (64.4%) was the cause of conflict in more than half of the cases. Lower limb was involved in 72.2%. Fifty eight (64.4%) patients remained hospitalized for 15-20 days and others for more than 20 days. Internal fixation with intramedullary nailing was done in 35 patients while K-wire was used in 5 patients. Fifty patients were managed with external fixation, either uniplanar or multiplanar ilizarov. Deep wound infection and nonunion were observed more often in high velocity injuries.

CONCLUSIONArmed robbery was the leading cause of gunshot bony injuries in our hospital. Young males were victimized in a majority of cases. High velocity injuries were associated with more complications.

Adolescent ; Adult ; Bone and Bones ; injuries ; Female ; Fracture Fixation, Intramedullary ; Humans ; Male ; Middle Aged ; Pakistan ; epidemiology ; Retrospective Studies ; Tertiary Healthcare ; Wounds, Gunshot ; epidemiology

OBJECTIVETo determine the frequency of adrenal injuries in patients presenting with blunt abdominal trauma by computed tomography (CT).

METHODSDuring a 6 month period from January 1, 2011 to June 30, 2011, 82 emergency CT examinations were performed in the setting of major abdominal trauma and retrospectively reviewed for adrenal gland injuries.

RESULTSA total of 7 patients were identified as having adrenal gland injuries (6 males and 1 female). Two patients had isolated adrenal gland injuries. In the other 5 patients with nonisolated injuries, injuries to the liver (1 case), spleen (1 case), retroperitoneum (2 cases) and mesentery (4 cases) were identified. Overall 24 cases with liver injuries (29%), 11 cases with splenic injuries (13%), 54 cases with mesenteric injuries (65%), 14 cases (17%) with retroperitoneal injuries and 9 cases with renal injuries were identified.

CONCLUSIONAdrenal gland injury is identified in 7 patients (11.7%) out of a total of 82 patients who underwent CT after major abdominal trauma. Most of these cases were nonisolated injuries. Our experience indicates that adrenal injury resulting from trauma is more common than suggested by other reports. The rise in incidence of adrenal injuries could be attributed to the mode of injury.

Abdominal Injuries ; diagnostic imaging ; epidemiology ; Adrenal Glands ; diagnostic imaging ; injuries ; Adult ; Aged ; Child ; Child, Preschool ; Female ; Humans ; Male ; Middle Aged ; Pakistan ; epidemiology ; Tomography, X-Ray Computed ; Wounds, Nonpenetrating ; diagnostic imaging ; epidemiology

OBJECTIVETerrorism-related bomb attacks on civilian population have increased dramatically over the last decade. Craniocerebral injuries secondary to improvised explosive devices have not been widely reported in the context of unarmored civilians. This series intends to report the spectrum of these injuries secondary to suicidal and implanted bombs as encountered at the Aga Khan University Hospital, Pakistan (AKUH). Further, a few pertinent management guidelines have also been discussed.

METHODSThe hospital database and clinical coding during a 5-year period were examined for head injuries secondary to terrorism-associated blasts. In addition to patient demographics, data analysis for our series included initial Glasgow Coma Scale, presenting neurological complaints, associated non-neurological injuries, management (conservative or operative) to associated complications, and discharge neurological status.

RESULTSA total of 16 patients were included in this series. Among them 9 were victims of suicidal blasts while 7 were exposed to implanted devices. The patients presented with diverse patterns of injury secondary to a variety of shrapnel. A follow-up record was available for 12 of the 16 patients (mean follow-up: 7.8 months), with most patients having no active complaints.

CONCLUSIONThe results of this series show that civilian victims of suicidal and improvised bombings present with a wide range of neurological symptoms and injury patterns, which often differ from the neurological injuries incurred by military personnel in similar situations, and thereby often require individualized care.

Adolescent ; Adult ; Blast Injuries ; diagnostic imaging ; epidemiology ; therapy ; Bombs ; Child ; Child, Preschool ; Craniocerebral Trauma ; diagnostic imaging ; epidemiology ; Debridement ; Decompressive Craniectomy ; Female ; Glasgow Coma Scale ; Humans ; Male ; Middle Aged ; Pakistan ; epidemiology ; Skull Fractures ; epidemiology ; Suicide ; Terrorism ; statistics & numerical data ; Tomography, X-Ray Computed ; Urban Population ; statistics & numerical data ; Wounds, Penetrating ; epidemiology ; Young Adult

Pakistan is ranked 9th in terms of flood-affected countries worldwide. In the summer of 2010, the northern province of Khyber-Pakhtunkhwa received more than 312 mm of rain in a 56 hour period. This resulted in over 1 600 deaths across the region. In addition, over 14 million people were directly affected by this record-breaking deluge. Flood affected regions serve as ideal breeding grounds for pathogens, leading to the spread of diseases. The poor standards of hygiene in camps set up for individuals displaced by the floods also contribute to this. It is essential that those involved in relief efforts are aware of the epidemiology of diseases that have historically seen a sudden upsurge after natural disasters. Keeping this in mind, we conducted a simple review of literature. An extensive literature search was conducted using the PubMed data base and online search engines. Articles published in the last 20 years were considered along with some historical articles where a background was required. Seven major diseases were identified to increase substantially in the aftermath of natural disasters. They were then classified into acute and sub-acute settings. Diarrhea, skin & eye infections and leptospirosis were identified in the acute setting while malaria, leishmaniasis, respiratory infections and hepatitis were identified in the sub-acute setting.
Communicable Diseases ; epidemiology ; Floods ; Humans ; Pakistan ; epidemiology

Adolescent ; Adult ; Age Factors ; Cardiology ; trends ; Diet ; Health Behavior ; Humans ; Myocardial Infarction ; diagnosis ; epidemiology ; Pakistan ; Prevalence ; Risk Factors ; Smoking ; adverse effects