A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Here we report a consanguineous Pakistani family with multiple affected individuals with autosomal recessive congenital cataract (arCC). Exclusion analysis established linkage to chromosome 22q, and Sanger sequencing coupled with PCR-based chromosome walking identified a large homozygous genomic deletion. Our data suggest that this deletion leads to CRYBB2-CRYBB2P1 fusion, consisting of exons 1-5 of CRYBB2 and exon 6 of CRYBB2P1, the latter of which harbors the c.

A Multispecialty Approach to the Identification and Diagnosis of Nonaccidental Trauma in Children.

Child abuse is a preventable phenomenon of considerable concern resulting in significant child mortality and morbidity. We analyze various abuse lesions such as radiological (visceral and skeletal lesions and those associated with head trauma) and cutaneous (burns, bruises, bites, etc.) to enhance streamlined identification of injuries in cases of physical child abuse.

The Role and Efficacy of Vitamin C in Sepsis: A Systematic Review and Meta-Analysis.

Clinical rationale for study: Despite advancements in critical care, the mortality rate of sepsis remains high, with an overall poor prognosis. There is a complex pathophysiology of a lethal cascade of cytokines and inflammatory proteins underlying sepsis. The use of vitamin C can theoretically suppress the inflammatory cascade but remains a questionable practice due to a lack of conclusive evidence.

Audit to optimize antibiotics use in neonatal septicemia.

Objectives: To assess appropriate antibiotics use in neonatal sepsis and to highlight the need for developing an Antibiotic stewardship program at local levels.

Methods: A clinical audit was conducted in the neonatal ward of the tertiary care hospital of Lahore for one year from May 2019 to May 2020. Reports of blood culture and drugs susceptibility were gathered from the microbiology department, and clinical records were evaluated about the choice of the antimicrobials, dosage, frequency, and clinical prognosis.

Traumatic Brain Injury in Underage Motorcycle Drivers: Clinical Outcomes and Sociocultural Attitudes from a Lower-Middle-Income Country.

Background And Objective: Poor societal attitudes and inadequate law enforcement have greatly contributed to the increase in underage motorcycle driving in Pakistan. This study reports the burden of traumatic brain injury (TBI), clinical characteristics/outcomes, and reason for driving in underage motorcyclists.

Materials And Methods: A prospective study was conducted throughout 2021.

Correlation of Hypothyroidism With Disease Activity Score-28 in Patients of Rheumatoid Arthritis.

Introduction Rheumatoid arthritis (RA) is a chronic autoimmune disorder with variable disease course including periods of flares and remissions. High disease activity in terms of disease activity score-28 (DAS-28) results in significant morbidity. Hypothyroidism is found to be associated with higher DAS-28 scores in RA.

Prospective Elective Neurosurgical Theater Utilization Audit in Pakistan: Problems in a Public Tertiary Care Hospital and Proposed Solutions from Lower-Middle-Income Country.

 In lower-middle-income countries such as Pakistan, public hospitals provide free healthcare but suffer from poor management and misgovernance, negatively impacting service provision. One aspect of this is operating theater time (OTT) utilization. In a 1,600-bed hospital with a 22 million catchment population, we noticed significant delays and inadequate OTT efficiency at the neurosurgery department of Jinnah Hospital, Lahore, Punjab, Pakistan.

Smoking and Pancreatic Cancer: Smoking Patterns, Tobacco Type, and Dose-Response Relationship.

Pancreatic cancer (PC) is the primary cause of cancer death in the United States and Europe. Despite remarkable advances in the molecular understanding of PC and advances in new therapeutic approaches, PC remains a disease with a poor prognosis. Although evidence indicates that long-term smoking is a major cause of PC, the molecular pathways behind smoking-induced PC pathogenesis are not fully understood.

Outcome of surgical treatment for neglected congenital muscular torticollis: A series of 28 adolescent patients.

Background: Congenital muscular torticollis (CMT) is a common musculoskeletal anomaly that can be excellently managed at birth with conservative physiotherapy; as a result, literature on neglected cases of CMT in older patients is sparse, and there is controversy regarding the ideal surgical approach. This report aims to provide the outcome of 28 adolescent patients with neglected CMT who underwent unipolar release at the distal sternocleidomastoid muscle (SCM).

Methods: Twenty-eight adolescent patients with untreated CMT presented to our department between 2016 and 2019 and underwent unipolar release at the distal end of their SCM.

Early experience with patient-specific low-cost 3D-printed polymethylmethacrylate cranioplasty implants in a lower-middle-income-country: Technical note and economic analysis.

Background: Polymethyl methacrylate (PMMA) cranioplasty, while widely prevalent, has limitations associated with freehand manual intraoperative molding. PMMA has been superseded by titanium or Polyetheretherketone implants, prefabricated commercially from preoperative CT scans, and boasting superior clinical and cosmetic outcomes. However, such services are extremely inaccessible and unaffordable in the lower-middle-income country (LMIC) settings.

An Overview of Factors Influencing Psychiatric Out-Patient Satisfaction at a Tertiary Care Hospital in Pakistan.

Objectives Patient satisfaction is now becoming the assessment criterion for the quality of health care services provided to patients with mental health issues; therefore, this study aimed to quantify patient satisfaction in the psychiatric outpatient department of Jinnah Hospital, Lahore, Pakistan, and assess the effects of socio-demographic factors and cultural and ethical beliefs on patient satisfaction. Methods This is a cross-sectional, observational study with a sample size of 386 patients, using a simple random sampling technique. Patients older than 14 years were included in this study.

Association Between Sarcoidosis and Risk of Venous Thromboembolism: A Retrospective Chart Review.

Introduction Sarcoidosis is a multisystemic disorder of an unclear etiology. It has been postulated that sarcoidosis is a chronic autoimmune inflammation, which may predispose to venous thromboembolism (VTE). Recent studies showed increased VTE events in patients with sarcoidosis and other autoimmune disorders.

Frequency of complete remission after standard 3+7 induction therapy in patients with acute myeloid leukemia.

Objectives: To find the frequency of complete remission rate after standard 3+7 induction therapy in patients with Acute Myeloid Leukemia (AML) among different clinicopathological groups.

Methods: Non-probability purposive sampling technique was used to collect data from July 2016 to Jan 2017, conducted at Department of Oncology, Jinnah Hospital Lahore. Sample size of 50 cases was calculated with 95% confidence level, 14% margin of error and taking expected percentage of complete remission (CR) 57% in AML patients after 3+7 induction therapy.

Epidemiology, Clinico-Pathological Characteristics, and Comorbidities of SARS-CoV-2-Infected Pakistani Patients.

SARS-CoV-2 is a causative agent for COVID-19 disease, initially reported from Wuhan, China. The infected patients experienced mild to severe symptoms, resulting in several fatalities due to a weak understanding of its pathogenesis, which is the same even to date. This cross-sectional study has been designed on 452 symptomatic mild-to-moderate and severe/critical patients to understand the epidemiology and clinical characteristics of COVID-19 patients with their comorbidities and response to treatment.

Management of Idiopathic Pyoderma Gangrenosum With Azathioprine As the Primary Adjunct in an Asian Man: A Case Report.

Pyoderma gangrenosum (PG) is a very rare, non-infectious, progressive inflammatory condition falling under the umbrella of neutrophilic dermatoses. It is an ulcerative condition with a wide variety of cutaneous manifestations and multiple clinical variants (classic ulcerative, pustular, bullous, and superficial granulomatous). Additionally, owing to similar patterns of mucocutaneous ulceration, it has certain overlaps with other neutrophilic diseases frequently observed in clinical practice.

CT Colonography and Colorectal Carcinoma: Current Trends and Emerging Developments.

Colorectal carcinoma is the third most malignant and second leading cause of death from cancer. The cruelty of this entity is that it takes decades to be symptomatic and is known to be detected late in its timeline by a screening technique. The fatality of this carcinoma only means heightened importance of screening guidelines to be laid down and strict follow-ups by the healthcare providers.

Challenges in screening of sexually transmitted viral infections of the female genital tract: Where do we stand? - A scoping review.

Globally more than a million sexually transmitted infections occur daily, and over 53 000 [47,000-60,000] women aged 15 and over were living with human immunodeficiency virus / acquired immunodeficiency syndrome in Pakistan by the year 2020. This situation becomes graver when the sexually transmitted infections exist as co-infections while remaining undiagnosed or under-diagnosed. Additionally, herpetic or papillomavirus lesions are more recurrent, more extensive and have more serious consequences in human immunodeficiency virus-positive patients.

Assessment of musculoskeletal disorders among cricketers playing in domestic clubs of Lahore.

Objective: To assess musculoskeletal disorders among male cricketers in an urban centre.

Methods: The cross-sectional study was conducted from October to November 2020 in Lahore, Pakistan, and comprised male cricket players aged 10-25 years playing in four domestic clubs. Data was collected about musculoskeletal disorders experienced during the preceding 12 months using the Extended Nordic Musculoskeletal Questionnaire.

Congenital Anomalies in Infant With Congenital Hypothyroidism: A Review of Pathogenesis, Diagnostic Options, and Management Protocols.

Thyroid hormones (TH) regulate growth, nervous system myelination, metabolism, and physiologic functions in nearly every organ system. Congenital hypothyroidism (CH) is one of the most common endocrinopathies in children and has potentially devastating neurologic and developmental consequences. The etiology and clinical manifestations of hypothyroidism in children differ from adults.

Efficacy and Safety of Fevipiprant in Asthma: A Review and Meta-Analysis.

Fevipiprant is a non-steroidal oral prostaglandin D2 (PGD2) receptor 2 antagonist that reduces bronchial wall inflammation, possibly improving clinical outcomes in the asthmatic population. A systemic review search was conducted on PubMed, Embase, and Central Cochrane Registry. Randomized clinical trials were included with Fevipiprant as an intervention arm compared to placebo.

Comparison of Single-Incision Scrotal Orchidopexy Versus Standard Two-Incision Inguinal Orchidopexy in Children With Palpable Undescended Testis.

Objective This study compares the operative time and complications including scrotal hematoma and secondary ascent of single-incision scrotal orchidopexy with standard two-incision inguinal orchidopexy in children for the treatment of palpable undescended testis. Methodology An open-label, randomized clinical trial was conducted at the Department of Pediatric Surgery Services Hospital, Lahore, Pakistan, for six months from August 16, 2021, to March 15, 2022. A total number of 266 patients with palpable undescended testis aged 1-10 years were included in this study.

Depression and Vitamin D: A Peculiar Relationship.

Depression is a psychiatric disorder characterized by various symptoms that can impact one's quality of life. Vitamin D, a fat-soluble vitamin, is well-known for its role in bone health, and research on its effects on mental health has only recently emerged. Vitamin D deficiency is widespread worldwide, and it has been linked to an increased risk of depression.

Recurrent Cryptogenic Stroke in a Patient With Left Atrial Septal Pouch.

The incomplete fusion of the septum primum and septum secundum results in the formation of the left atrial septal pouch (LASP). The clinical significance of this entity is a matter of controversy; however, it may act as a nidus for thrombus formation. We report a case of a 57-year-old male who was brought to the hospital by his girlfriend due to his bizarre behavior and confusion for one day.