Sirtuins are evolutionary conserved NAD+ dependent acetyl-lysine deacetylases and ADP ribosyltransferases dual-function enzymes involved in the regulation of metabolism and lifespan. Sirtuins represent a promising new class of III NAD dependent histone deacetylases that regulate a number of physiological processes, originally identified in yeast. Sirtuins regulate various normal and abnormal cellular and metabolic processes, including tumorgenesis, neurodegeneration and processes associated with type 2 diabetes and obesity. Several age-related diseases such as Alzheimer's disease and longevity have also been linked to the functions of sirtuins. Because of these associations, the identification of small molecules sirtuin modulators has been of significant interest.
Individuals respond differently to drugs and sometimes the effects are unpredictable. Differences in DNA that alter the expression or function of proteins targeted by drugs can contribute significantly to the variation in the individuals responses. The use of pharmacogenomics is to identify genetic polymorphisms that predispose patients to adverse drug effects that, although they may occur in only a small subset of the people treated with a new medication, are sufficiently toxic to jeopardise further development of the drug for all patients. Given the potential value of knowing all the possible factors that influence the effects of new agents, it is likely that pharmacogenomics will have an increasingly important role in drug discovery and development. This article briefly reviews concepts that underlie the emerging fields of pharmacogenetics and pharmacogenomics, with an emphasis on the pharmacogenetics of drug metabolism. Although only a few examples will be provided to illustrate concepts and to demonstrate the potential contribution of pharmacogenetics to medical practice, it is now clear that virtually every pathway of drug metabolism will eventually be found to have genetic variation.
Cysticercosis is a parasitic infection with potential of causing significant morbidity especially in developing countries. The larval form of the parasite Taenia Solium, 'Cysticercus Cellulosae' primarily colonizes in the small intestine and has the potential to disseminate to different sites of the body. Oral presentation is rare and difficult to detect owing to its innocuous presentation. This report describes the presentation of cysticercosis involving the tongue and presenting as a submucosal mass. An incisional biopsy was performed and evaluation of the histopathological features lead to the diagnosis of oral cysticercosis. This article highlights the importance of inter-departmental collaboration for the accurate diagnosis and effective management of oral cysticercosis in order to avoid potential systemic complications.
Background Gallstone disease (GSD) is one among the most prevalent diseases that affects approximately 10-15% of the population. It is associated with many other diseases like gallbladder cancer, renal stones, atherosclerosis, coronary heart disease and stroke. Objective Objective of this study is to document the prevalence of gallstones among south Indian cadavers. Method One hundred and twenty three South Indian cadaveric livers/gallbladders were observed for the presence of gallstones. The age range was 40 to 70 years. The gallbladders were palpated to know the presence of stones. They were then dissected and the stones were classified based on appearance. Gall bladder walls were also observed to know the associated fibrosis. Result Among the cadavers studied, 0.81% possessed cholesterol stones and 4.06% had pigment stones. Among the stones, 83.33% were pigment stones and 16.66% were cholesterol stones. Conclusion Compared to the western countries and north Indian studies, the prevalence of gallstone diseaseis low in the south Indian population (4.87%). The low prevalence was probably due to the low socioeconomic status and the diet and lifestyle.
The musculocutaneous and median nerves frequently show variations from their normal course. The purpose of this paper is to report a rare variation, in which the right musculocutaneous nerve was absent. Consequently, the median nerve supplied motor innervation to the flexor compartment of the arm and sensory innervation to the lateral aspect of the forearm. The primary targets of this paper are orthopedic surgeons, anesthesiologists and radiologists. In cases of injuries to the upper limb, knowledge of these variations can assist them in avoiding misdiagnoses.
The testis is an important organ upon which the survival of the human species depends. Any compression of testicular artery may lead to loss of gametogenesis and hormone production. We found a left testicular artery entrapped between two divisions of a left renal vein in an approximately 50 year old cadaver. The left renal vein was formed by union of two veins coming from the kidney, left suprarenal vein, left testicular vein and an abnormally enlarged lumbar vein. This case may be of particular importance to surgeons who transplant kidneys, radiologists and orthopaedic surgeons dealing with the spine repairs.
Background Thrombocytopenia is a common haematological abnormality noted in clinical practice, however, it can be missed in cases where specific investigations are not asked for. Acute Febrile Illness with thrombocytopenia is a diagnostic and therapeutic challenge, as thrombocytopenia has an inverse relation to mortality and morbidity in various febrile illnesses. Vector-borne and zoonotic diseases (like malaria, dengue, scrub typhus, and leptospirosis), infections and sepsis are some of the common causes of fever with thrombocytopenia. Objective To identify the causes of fever with thrombocytopenia, assess the clinical complications associated with febrile thrombocytopenia, and overall study the clinical profile of thrombocytopenia in a tertiary care hospital Method Medical records of all adult patients, admitted to a tertiary level hospital, with fever and thrombocytopenia (platelet count < 1,00,000 /mm3 ) were assessed (from October 2009 to March 2011). Detailed case history, general physical examination findings, routine and specific examinations were recorded according to a pre-decided format. Data were analysed using SPSS 16.0 Result Acute febrile illness with thrombocytopenia was most commonly seen in Dengue patients. Headache and arthralgia were more commonly encountered in scrub typhus. Platelet transfusions were necessitated in a large number of patients, especially in scrub typhus. Malaria patients had the highest mortality rate. Conclusion Acute Febrile Illnesses (AFI) are of varied origins, and proper diagnosis is imperative. The degree of thrombocytopenia in infections has a prognostic value. It can also help in differential diagnosis and clear identification of aetiology of acute febrile illnesses. Timely identification and management of thrombocytopenia in acute febrile illness can positively impact the overall patient outcome.
Background Tobacco consumption is a leading cause of premature death in the world. Tobaccorelated deaths are associated with cardiovascular diseases, pulmonary diseases, oral potentially malignant disorders, cancer, others. Moreover there is also associated nicotine dependence which might result to numerous tobacco-associated diseases. Objective This study was conducted to analyze the degree of nicotine dependence considering its potential health risk, in the Eastern region of Nepal. Method A descriptive questionnaire based study was conducted among current tobacco users of six districts of Eastern Nepal. Fagerstrom Test for Nicotine Dependence (FTND) and Fagerstrom Test for Nicotine Dependency for Smokeless Tobacco (FTNDST) questionnaire were used for tobacco smokers and chewers, respectively. Result Of the total participants, 836 were males and 359 females, among whom 736 were active tobacco smokers and 432 chewers, 34.8% had tried to stop consuming tobacco and 306 (25.6%) had oral lesions in white or red forms. Very low nicotine dependence was found among 244 (31.47%) tobacco smokers and 37 (8.56%) chewers whereas 36 (4.71%) smokers and 103 (23.84%) chewers had very high nicotine dependence. The mean score for FTND was 3.73±2.37 and 5.74±2.12 for FTND-ST. A significant difference in duration and age group with FTND score was observed, however not with FTND-ST. Conclusion The information regarding degree of nicotine dependence can be used as baseline information for planning of preventive strategies and implementation of tobacco cessation and control programs.
Background During the COVID-19 pandemic, job and income loss, social isolation may aggravate mental health, particularly among the most vulnerable groups. Objective To assess the current mental health situation among the rural population in Samarahan district and determine the relationship between economic hardships, financial threats, and mental health status. Method This study was a cross-sectional study conducted among the 530 households in the Samarahan district. A multistage cluster sampling technique was used to select the participants in this study. Data were collected by face-to-face interview using a structured questionnaire. The mental health status was assessed by using a validated and translated DASS-21 scale. Data analysis was done by SPSS version 27.0. A p-value of ≤ .05 was considered statistically significant. Result Analysis showed that two-thirds of the respondents (66.6%) had no mental health problem. Meanwhile, 22.4% had anxiety, 1% had depression, and 0.19% had stress. Anxiety and depression accounted for 5.8% and stress and anxiety 1.3%. However, 2.64% had stress, anxiety, and depression. In bivariate analysis, age, monthly income, type of job, economic hardship, and expenditure difference appeared to be significant predictors of mental health problems (p < .05). Conclusion Depression, anxiety, and stress pose a significant threat to the rural population's health. Therefore, public health practitioners and policymakers need to address this to minimise the pandemic's impact on mental health and provide psychological support, particularly among the most affected group.
Knowledge of normal as well as variant great saphenous vein is useful as it is the vein that can get varicosed; the vein that is used in bypass surgeries and the vein that is used for cannulation purpose. We observed almost complete duplication of the great saphenous vein in the left lower limb of an adult male cadaver. Both the great saphenous veins arose from the medial end of the dorsal venous arch and coursed parallel to each other throughout the limb. They united in the femoral triangle to form a short (1 inch long) common great saphenous vein. Common great saphenous vein terminated into the femoral vein. There were four communicating veins connecting the two great saphenous veins in the leg, giving the appearance of a venous ladder. Knowledge of this variation could be extremely useful in treatment of varicose veins of lower limb, in catheterizations and in various surgical procedures of the lower limb.
Inflammatory myofibroblastic tumour is rare but more common in children. It shows an immunophenotypic features of myofibroblastic differentiation, hence bearing neoplastic potential. The diagnosis is challenging especially if it involves rectum. Surgical resection is the mainstay of treatment if clinically obstructed. A 65-year-old gentleman presented with intestinal obstruction, which then followed by a hartmann's procedure. Final diagnosis is a rare case of inflammatory myofibroblastic tumour of the rectum. We discuss its genetic involvement with a literature review.
Kidneys are the organs that remove the waste products of the metabolic activities. A smooth blood flow to the kidneys is essential to maintain their function. Abnormalities of the renal vasculature may result not only in impairing the renal function but can lead to conditions like varicocele. During an autopsy of an adult male, we observed renal vascular variations. The left renal vein had a retro-aortic course before its termination into the inferior vena cava. It was joined with the inferior vena cava at the level of inferior mesenteric artery with an acute angle. The left testicular vein joined the left renal vein with an acute angle. The right kidney was supplied by two renal arteries. The knowledge about retro-aortic course of the left renal vein may be important during renal transplantation. The oblique course of left renal vein and the termination of left testicular vein into it with an acute angle may increase the chances of left sided varicocele.
A 49-year-old lady with previous scars complained of acute abdominal pain for two days. Her right hypochondrium was tender and guarding upon assessment. The laboratory investigations were unremarkable. Due to a diagnostic incongruity, computed tomography of the abdomen was performed showing a suspicious lesion at anterolateral aspect of the ascending colon. Surgical intervention was decided and intraoperative finding was consistent with spontaneous omental infarction. Omentectomy was undertaken and final histology was compatible with the intraoperative diagnosis. Although it is exceptional, omental infarction should be considered as part of the differential diagnoses of right-sided acute abdominal pain with normal laboratory investigations. This case highlights its unexpected discovery and we describe its literature reviews.
Urbanization has provided experimental settings for testing the interactive relationship between genetic background and changes in lifestyle and dietary patterns. The concept of gene-environment interaction was described by epidemic of obesity along with urbanization. Genome-wide association has identified several genes such as melanocortin-4 receptor that associates with environmental influences of obesity. Gene environment (GxE) interaction refers to modification by an environmental factor of the effect of a genetic variant on a phenotypic trait. GxE interactions can serve to modulate the adverse effects of a risk allele, or can exacerbate the genotype-phenotype relationship and increase risk.
Foreign body over the hard palate is a rare clinical entity that happen almost exclusively in young pediatric age group with only about 40 odd cases ever reported. Most cases in the literature are described as incidental findings of hard palate mass causing heightened anxiety to parents and clinicians alike during routine oral cavity examination. Owing to its rarity and lackluster presenting symptoms, this simple condition are often overlooked but has high propensity to develop into life threatening condition if dislodged into the airway.
Background Point prevalence survey (PPS) on antibiotic use developed by the WHO has already been used in many hospitals globally. Objective To obtain information on antibiotic prescribtion using point prevalence survey methodology in six private hospitals in the Kathmandu valley. Method This descriptive cross-sectional study was completed during 20th July to 28th July 2021 using point prevalence survey methodology. The study was conducted among inpatients admitted at or before 8:00 AM on the day of survey in various wards. Data was presented as frequencies and percentages. Result Maximum number of patients were above 60 years [34 (18.7%)]. Number of male and female participants were equal [91 (50%)]. Only one antibiotic was used in 81 patients (44.5%) followed by two antibiotics in 71 (39%) patients. Duration of prophylactic antibiotic use was one day in 66 (63.7%) patients. Blood, urine, sputum, and wound swabs were the common samples for culture. Cultures were positive for 17 (24.7%) samples. The common organisms isolated were E. Coli, Pseudomonas aeruginosa and Klebsiella pneumoniae. Ceftriaxone was the most used antibiotic. Drug and therapeutics, infection control committee and pharmacovigilance activities were present in 3/6 (50%) study sites. Antimicrobial stewardship was present in 3/6 (50%) and microbiological services was present in all hospitals. Antibiotic formulary and antibiotic guideline were present in 4/6 sites and facilities to audit or review surgical antibiotic prophylaxis choice in 2/6 (33.3%) sites, facility to monitor antibiotic use in 4/6 (66.6%) and cumulative antibiotic susceptibility reports in 2/6 (33.3%) study sites. Conclusion Ceftriaxone was the most used antibiotic. E. Coli, Pseudomonas aeruginosa and Klebsiella pneumonia were the commonly isolated organisms. Not all parameters for infrastructure, policy and practice and monitoring and feedback were present at the study sites. KEY WORDS.
The articular facets on the inferior aspect of the occipital condyles, articulate with the superior articular facets of the first cervical (atlas) vertebra, to form the atlanto-occipital joint. The present case, reports the asymmetrical dimensions of the facets on the occipital condyles of a human dried skull. The anatomico-radiological study of asymmetrical articular facets on the occipital condyles, may be helpful for academicians, neuro-surgeons, clinicians and radiologists in day to day clinical practice.