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Glycogen storage disease type I (GSD I) is a rare autosomal recessive inborn error of carbohydrate metabolism caused by the defects of glucose-6-phosphatase complex (G6PC). Disease causing variants in the G6PC gene, located on chromosome 17q21 result in glycogen storage disease type Ia (GSD Ia). Age of onset of GSD Ia ranges from 0.5 to 25 years with presenting features including hemorrhage, hepatic, physical and blood related abnormalities. The overall goal of proposed study was clinical and genetic characterization of GSD Ia cases from Pakistani population. This study included forty GSD Ia cases presenting with heterogeneous clinical profile including hypoglycemia, hepatomegaly, lactic acidosis i.e., pH less than 7.2, hyperuricemia, seizures, epistaxis, hypertriglyceridemia (more than180 mg/dl) and sometimes short stature. All coding exons and intron-exon boundaries of G6PC gene were screened to identify pathogenic variant in 20 patients based on availability of DNA samples and willingness to participate in molecular analysis. Pathogenic variant analysis was done using PCR-Sanger sequencing method and pathogenic effect predictions for identified variants were carried out using PROVEAN, MutationTaster, Polyphen 2, HOPE, Varsome, CADD, DANN, SIFT and HSF software. Overall, 21 variants were detected including 8 novel disease causing variants i.e., G6PC (NM_000151.4):c.71A>C (p.Gln24Pro), c.109G>C(p.Ala37Pro), c.133G>C(p.Val45Leu), c.49_50insT c.205G>A(p.Asp69Asn), c.244C>A(p.Gln82Lys) c.322A>C(p.Thr108Pro) and c.322A>C(p.Cys284Tyr) in the screened regions of G6PC gene. Out of 13 identified polymorphisms, 3 were identified in heterozygous condition while 10 were found in homozygous condition. This study revealed clinical presentation of GSD Ia cases from Pakistan and identification of novel disease-causing sequence variants in coding region and intron-exon boundaries of G6PC gene. [ABSTRACT FROM AUTHOR]

A broad category of malignancies that develop in the digestive system, gastrointestinal lymphomas include a variety of histological subtypes and clinical manifestations. Significant advancements have been achieved in the knowledge, diagnosis, and treatment of various lymphomas in recent years. This review article offers an overview of the most recent discoveries in the study of gastrointestinal lymphoma, with a particular focus on advancements in diagnostic plans. The article examines developments in histopathology and molecular classification, emphasizing their influence on the diagnosis and prognosis of diseases. It also looks at how endoscopic and imaging techniques are advancing in their use for proper staging and early diagnosis of gastrointestinal lymphomas. This article provides a thorough update on the state-of-the-art in identifying and treating gastrointestinal lymphoma through the synthesis of recent literature and research findings, highlighting the possibility for better patient outcomes and increased quality of life. [ABSTRACT FROM AUTHOR]

Objective: To determine the symptoms, demographic parameters and health profile of post-menopausal women and factors related to the deranged health profile. Study Design: Comparative cross-sectional study. Place and Duration of Study: Department of Gynecology and Obstetrics, Pak Emirates Military Hospital Rawalpindi Pakistan, from Jun 2019 to Aug 2021. Methodology: Five hundred post-menopausal women were included in this study via convenience sampling. Menopause was confirmed based on clinical and laboratory information. A consultant Gynecologist inquired about details of clinical symptoms and demographic profile. Relationship of age, body mass index, use of hormonal replacement therapy and living with husband was assessed with the presence of deranged health profile among the post-menopausal women participating in this study. Results: Out of 500 post-menopausal women studied in the given period, 323 (64.6%) had at least one clinical symptom of a deranged health profile, while 177 (35.4%) did not report any such symptom. The mean age of the study participants was 58.47 ± 4.561 years. Hot flushes 200 (40%) were the most commonly reported symptoms, followed by urinary tract infections 121 (24.2%) and palpitations 121 (24.2%). After applying the statistical analysis, high body mass index and not using hormonal replacement therapy emerged as factors associated with deranged health profiles in the study participants (p-value <0.001). Conclusion: Most of the women had at least one clinical symptom after menopause. Hot flushes, urinary tract infections and palpitations were commonly reported symptoms. Patients with high body mass index and no hormonal replacement therapy were more likely to have a deranged post-menopausal health profile. [ABSTRACT FROM AUTHOR]

Objective: To assess the pervasiveness and severity of Pre-Menstrual Syndrome (PMS) in educated urban females and analyze the relationship of Pre-Menstrual Syndrome with depression, age, education and Body Mass Index (BMI). Study Design: Cross sectional exploratory study Place and Duration: Lahore College for Women University from 1st May 2015 to 31st May 2016. Methodology: Women of age between 16 and 53 were enrolled through purposive sampling. A self-constructed questionnaire was used which comprised questions related to severity and intensity of Pre-Menstrual Syndrome and depression symptoms. Sociodemographic variables such as age, education, marital status, weight and height were also asked. Results: The mean age for onset of menstruation was 13.36 ± SD 1.77 years. Backache, headache and depression were most reported symptoms. Pre-Menstrual Syndrome appeared to be correlated with increasing age and education level (P-value of <0.05). Severe Pre-Menstrual Syndrome group reported significantly high depression (P-value of <0.01). Pre-Menstrual Syndrome remained non-significant with BMI (P-value of >0.05). Conclusion: All participants reported different levels of Pre-Menstrual Syndrome. Age, education, Pre-menstrual syndrome and depression observed to be related to each other. [ABSTRACT FROM AUTHOR]

Objective: To measure the frequency of heart failure in patients with segment elevation myocardial infarction treated with PPCI and to associate it with ischemic time. Study Design: A descriptive cross-sectional study. Place and Duration of Study: This study was conducted at the Emergency Department, Catheterization Laboratory and Coronary Care Unit of Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi from May 2018 to December 2018. Material and Methods: All patients presenting to Emergency Department with acute STEMI and undergoing PPCI were included while STEMI patients who already have established heart failure on arrival to ER were excluded from the study. All patients with the diagnosis of STEMI treated with PPCI were assessed. The initial standard 12 lead ECG, recorded immediately after the patient’s admission to the emergency department, were considered as baseline. Continuous bedside monitoring was carried out and any of the symptoms or signs of heart failure according to KILLIP class occurring over the following 72 hours were noted. All patients were separated in defined groups and were compared for different variables and will be recorded on a data collection tool. Results: Total 500 patients of STEMI were recruited for the study out of which 384 (76.9%) were male patients while 116 (23.0%) were female patients. Mean age of the patients was found to be 58 ± 8.6 years. The most common risk factor was hypertension in 445 (89.0%) patients followed by smoking history in 373 (74.7%), Diabetes Mellitus, Family history of coronary artery disease, Grade III obesity and Previous PCI/CABG. Within ≤90 minutes of ischemic time only five patients developed heart failure in next 72 hours, 16 (3.2%) patients developed heart failure in 91-150 minutes, 49 (9.8%) patients in 151-360 minutes and 65 (13.1%) patients developed heart failure >360 minutes. Conclusion: Total ischemic time was associated with mortality. The present study suggests that additional efforts are needed to shorten total ischemic time including patient and pre-hospital systemic delay for better prognosis after primary PCI [ABSTRACT FROM AUTHOR]

Echinococosis (which is often referred as hydatid disease) is an infection caused by larval stage of Echinococcus granulosus complex, E multiocularis or E vogeli. When it lodges in the brain, a solitary cyst (hydatid cyst) develops. Hydatid cyst of the brain is a slow growing mass that does not invade the brain. Surgical removal of the intact and unruptured cyst is advised in all cases for preventing local recurrence that may require further surgery and long term treatment with parasiticidal agents. We report a five years old male child who presented with headache, difficulty in walking with ataxic gait and unable to maintain posture and tremors in hand. MRI showed a giant hydatid cyst which was removed by a neuro surgeon and patient was successfully discharged. [ABSTRACT FROM AUTHOR]

Congenital lobar emphysema is a rare form of congenital malformation of the lungs characterized by over distension of a lobe of lung due to partial obstruction of the bronchus. The case that we are reporting is a 7 months baby admitted in the pediatric department with symptoms and signs of bronchiolitis/ bronchopneumonia. Chest x-ray showed partial consolidation of right upper and lower lobes and lobar emphysema of the left upper lobe. Computerized tomography of thorax showed emphysema of the left upper lobe. The baby was treated conservatively and discharged home safely followed by regular follow up visits. [ABSTRACT FROM AUTHOR]