Pakistan Journal of Medical Sciences Quarterly

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Genodermatoses are quite frequent in developing countries where consanguinity is common but are usually under reported and undiagnosed. Main reason being lack of accessibility to tertiary health care facilities for people of rural areas as evident in case below. Genetic counselling and pre natal testing is of utmost importance in affected families. Epidermolysis bullosa pruriginosa (EBP) is a rare and less recognized variant of dystrophic epidermolysis bullosa. Reporting the case of two first cousins who presented with intensely pruritic skin lesions since infancy along with the history of siblings with skin problems...

OBJECTIVE: To investigate the value of mesenteric CTA combined with D-dimer (DD) level and inflammatory factor changes in evaluating the severity of mesenteric artery embolism. METHODS: This is a retrospective study. The imaging data of mesenteric CTA and the levels of plasma DD and inflammatory factors in 120 patients with mesenteric artery embolism confirmed by DSA or surgery in Baoding No.1 Central Hospital were analyzed retrospectively from January 2021 to December 2022...

OBJECTIVE: To determine the association of different blood groups in patients with Dengue fever and their relationship with the severity of the illness. METHODS: A hospital-based descriptive study was conducted in the Dengue Isolation Ward of Lady Reading Hospital Peshawar from March 2020 to September 2020. Patients with Dengue fever were included in the study. The severity of the illness was categorized as "Dengue fever (DF)", "Dengue hemorrhagic fever (DHF)", and "Dengue shock syndrome (DSS)"...

OBJECTIVE: The aim of this study was to determine frequency of secondary modifiers in non-transfusion dependent thalassemia. METHODS: This descriptive cross sectional study was done at Fauji Foundation Hospital Islamabad. Seventy diagnosed patients of thalassemia intermedia were included. Deoxyribonucleic acid (DNA) was extracted using Chelex method. The Xmn-1 and BCL11A polymorphisms were analyzed by Amplification Refractory Mutation System (ARMS) and Restriction Fragment Length Polymorphism (RFLP) PCR...

OBJECTIVE: To compare the effect of percutaneous balloon compression (PBC) and microvascular decompression (MVD) in the treatment of trigeminal neuralgia (TN). METHODS: Data of 98 patients with TN, admitted to Chenzhou First People's Hospital from May 2020 to May 2022, were retrospectively collected. Patients were divided into two groups based on the surgical method. A total of 53 patients treated with PBC comprised the PBC-group and 45 patients treated with MVD comprised the MVD-group...

OBJECTIVE: Genetic polymorphisms in genes involved in growth process and Vitamin-D metabolism form a significant etiology behind growth hormone deficiency and short stature. The aim of this study was to explore for known and unknown genes and variants related to growth hormone and short stature in a family based study using whole exome sequencing (WES). METHOD: This family-based study included a family with members diagnosed with growth hormone deficiency, short stature and Vitamin-D deficiency (four boys affected and four boys non-affected)...

OBJECTIVE: To compare the efficacy and safety of left lateral decubitus versus prone position during endoscopic retrograde cholangio-pancreaticography (ERCP). METHODS: This prospective single-centre cohort study was carried out at Pak Emirates Military Hospital from January to June 2021. Patients requiring ERCP were subsequently allotted LL or PP group randomly (unequal randomization) except patients with recent abdominal surgery, in-dwelling catheters, raised intra-abdominal pressure, cervical spine abnormalities and limb contractures...

OBJECTIVE: To assess the understanding of the patients with common mental disorders, towards issues related to their mental health. METHODS: This qualitative study was conducted from December 2018 to April 2020. Thirty-four patients, suffering from common mental disorders, were interviewed in public and private sector hospitals of Peshawar. The interviews were recorded, transcribed, translated into English, and themes were generated from their responses. Content analysis was carried out on the data obtained...

OBJECTIVE: To determine Maternal and Fetal outcome in women undergoing induction of labour with low dose misoprostol. METHOD: A cross-sectional study was carried out to determine the efficacy of Misoprostol for induction of labor (IOL) in MTI, Lady Reading Hospital (LRH), Peshawar from 21st January to 31st December 2021. All pregnant women with singleton pregnancy and cephalic presentation admitted for Induction of Labor were included in the study. Maternal and Fetal outcome was noted...

OBJECTIVE: To observe the efficacy of Montelukast combined with sublingual immunotherapy (SLIT) in the treatment of children with obstructive sleep apnea hypopnea syndrome (OSAHS) complicated with allergic rhinitis (AR). METHODS: This is a prospective study. A total of 102 children with OSAHS complicated with allergic rhinitis admitted to Hunan Children's Hospital from April 2020 to April 2021 were selected and randomly divided into two groups: sublingual group and two-drug combination group...

BACKGROUND & OBJECTIVES: VH (Vocal health) is the need of the hour. VH of parents of children with hearing assistive devices (HAD) reveals a literature gap, during the habilitation process of their children. To explore the vocal health of parents of children with hearing assistive devices. METHODS: This cross-sectional study was conducted at Riphah International University from September to December 2021. Study recruited N=384 parents of Hearing Impaired children (HIC) using HAD for at least two years, of both genders and aged 2-9 years using convenience sampling...

OBJECTIVE: To determine the correlation between levels of stress with level of empathy in all five years of undergraduate medical students of a private medical college in Pakistan. METHODS: This descriptive correlation study was conducted at Al Tibri Medical College, Karachi from 15th June to 14th November 2021. Of the 500 students in the medical school, 408 participants filled out the questionnaires through online Google Forms. The student's version of the Jefferson Scale of Empathy (JSE-S) estimated the self-reported student's empathy levels...

OBJECTIVE: To find possible association of R1939W and P1987R variants of OTOF gene with severe to profound NSSHL in cochlear implant subjects. METHODS: It was a case control study, conducted from June 2021 to February 2022, comprising 50 cases of severe to profound NSSHL who had received cochlear implant from ENT Department, CMH Rawalpindi and 50 age-matched healthy controls from PEMH Rawalpindi. Blood samples were collected from all the subjects, followed by DNA extraction and allele-specific polymerase chain reaction, performed at Multi-disciplinary Laboratory of Department of Biochemistry and Molecular Biology, Army Medical College Rawalpindi...

Pediatric high-grade glioma (pHGG) is highly malignant central nervous system tumor and constitute 10% of the pediatric gliomas. Effective treatment needs a functioning multi-disciplinary team including pediatric neuro oncologist, neurosurgeon, neuroradiologist, neuropathologist and radiation oncologist. Despite surgical resection, radiotherapy and chemotherapy, most HGG will recur resulting in early death. A significant proportion of HGG occurs in context of cancer predisposition syndromes like Constitutional Mismatch Repair Deficiency (CMMRD) also known as Biallelic Mismatch Repair Deficiency (bMMRD) characterized by high mutational burden...

OBJECTIVE: A2 gestational diabetes mellitus (A2GDM) is a more severe form of GDM that requires additional medical intervention, such as insulin or oral antidiabetic drug (OAD). The present study explored the determinants of A2GDM and analyzed the associated risk of post-partum diabetes or prediabetes. METHODS: This retrospective study included 247 pregnant women, diagnosed with GDM and followed up until delivery at the Obstetric Medicine Clinic of King Abdulaziz University Hospital, Jeddah, Saudi Arabia, between January 2014 and January 2018...

OBJECTIVES: This study aimed to analyse the clinical effect of surgery for patients with fibrous dysplasia (FD) of the proximal femur with varus deformity, detect the muscle function around the hip joint. METHODS: This is a retrospective study. A total of 20 patients who underwent operation for FD of the proximal femur with varus deformity at West China Hospital, from January 2018 to October 2022 were included in this study. The peak torque (PT) of muscle strength during abduction, adduction, flexion and extension of bilateral hip joints was measured by an isokinetic muscle test and training system associated with the comparison of bilateral hip joints, to evaluate the function of muscles around the hip joint after operation...

OBJECTIVE: To evaluate the clinical efficacy of dydrogesterone combined with non-steroidal anti-inflammatory drugs(NSAIDs) in the treatment of patients with mild endometriosis. METHODS: This was a clinical comparative study. Eighty patients with mild endometriosis were recruited at Affiliated Hospital of Hebei University, randomly divided experimental group (n=40) and control group (n=40) from March 2022 to March 2023. Both groups started treatment with dydrogesterone on the 5th day of menstruation...

OBJECTIVE: To investigate the clinical effects of HBV infection on patients with rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). METHODS: This is a prospective study. Thirty patients with RA and 30 patients with SLE admitted to Affiliated Hospital of Hebei University from January 2020 to December 2021 with co-infection of HBV were randomly selected and divided into two groups. Both groups were given anti-HBV treatment. An additional 60 patients with a healthy physical examination during the same period were also selected as a control group...

OBJECTIVE: We aimed to compare the inflammatory response with alterations in hemogram parameters, in patients who underwent laparoscopic hysterectomy and bilateral salpingo - oophorectomy for benign gynecologic conditions with ligasure plus monopolar cautery or harmonic plus conventional bipolar cautery. METHODS: Patients who underwent Laparoscopic hysterectomy with bilateral salpingo - oophorectomy between January 2017 and January 2022 for benign gynecologic pathology were identified...