Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are two common and important Inherited neuromuscular disorders which have witnessed immense advances in their treatment owing to ongoing developments in gene therapy. Better modalities for clinical testing and improved clinical awareness has led to facilitation of innovative therapeutic research. Multiple new agents have been approved by regulatory authorities. A continuing research on evaluating such treatment options is required more than ever. These novel therapies have immense potential to transform this field and prolong the functional independence and lifespan of patients.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Entomophthoromycosis is a group of fungal infections caused by fungus belonging to the order Entomophthorales. The two clinical forms of entomophthoromycosis identified are Basidiobolomycosis and Conidiobolomycosis. Rhino-facial conidiobolomycosis mainly affects the mucosa of the nares, nasal passages, nasal sinuses, nasopharynx, mouth and spreads to adjacent tissues causing disfigurement of face. Histological examinations and mycological cultures are the gold standard for confirmation of entomophthoromycosis. In our middle aged female patient, histopathology revealed fungal elements with broad aseptate hyphae surrounded by splendor hoeppli material and surrounding tissue showed dense inflammatory infiltrate with numerous eosinophils and foreign body granulomatous reaction. Treatment include both surgical and medical management, which includes systemic antifungals. Patient was initiated on itraconazole to which she responded. A significant reduction in the swelling and restoration of patency of the nostrils was noted on review after one month. Knowledge of rare fungal infections such as entomophthoromycosis is significant in clinical practice.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Introduction: Insufficient physical activity is the fourth leading cause of death globally. Increased physical activity improves the physical and psychological well-being and decreases the incidence of type 2 diabetes mellitus, cardiovascular diseases, stroke, and cancer. Methods: This is a cross-sectional study conducted among 267 adults from a rural area of Kancheepuram District in Tamil Nadu, South India. Cluster sampling method was used. Clusters were selected randomly. Within each clusters, the simple random sampling method was used to select the individual participants. Data were collected using the World Health Organization's standard Global Physical Activity Questionnaire. Results: Overall prevalence of insufficient physical activity among adults in a rural area of South India was 22.5% (17.88–27.85) (n = 60), and the prevalence of sufficient physical activity was 77.5 (72.2–82.08) (n = 207). Among overall physical activity, major contribution was from work (75%) followed by transport time activity (18%) and the least by leisure-time physical activity, which was only 7%. With increase in age, level of adequate physical activity was decreasing (adjusted odds ratio (0.95 [0.92–0.98], P < 0.001). Insufficient physical activity was not associated with any other studied factors (gender, employment, education, occupation, and marital status). Conclusion: In a rural area of South India, the physical activity was contributed majorly by work domain and least by other domains. Leisure-time physical activity in rural community was poor and to be encouraged in future by community interventions.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]

Candida auris (C. auris) is a multidrug-resistant emerging fungal pathogen, which spreads rapidly in health-care settings and has the potential to cause nosocomial outbreaks. The lack of awareness among clinicians and challenges faced for its diagnosis in microbiology laboratories may adversely affect patient outcome. It is resistant to most of the commonly used antifungals for empiric treatment in critical care units. Hence, appropriate identification and antifungal susceptibility-guided treatment can contain infections caused by this organism. Hospital infection prevention and control measures must be in place to prevent nosocomial transmission. We report one such case of bloodstream infection by C. auris in a patient with multiple underlying risk factors and morbid obesity, who succumbed to florid sepsis after prolonged hospitalization in spite of aggressive medical management.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]

Background: Type 2 diabetes mellitus is one of the leading causes for global public health crisis mainly affecting the Asian countries. Cardivascular disease (CVD) is one of the leading contributors to morbidity and mortality for type 2 diabetes mellitus patients. Assessment of the cardiovascular risk in asymptomatic patients and advising them for proper preventive measures will help to bring down the morbidity and mortality. In this study we aim to find the correlation of carotid intima thickness (CIMT) with different risk scores estimating 10 years risk of cardiovascular disease. Method: It is a cross sectional study involving type 2 diabetes mellitus patient of age between 20 years and 80 years, without having any previous history of cardiovascular disease, cerebrovascular accident, chronic kidney disease and connective tissue disorder. Detailed history and examination was done along with blood investigations like fasting lipid profile, HbA1c, fasting and post prandial blood glucose, blood urea and creatinine. All these data were used to estimate 10 years cardiovascular risk using different risk engines - United Kingdom Prospective Diabetes Study (UKPDS) risk engine, Framingham Risk Score (FRS), Q risk and Atherosclerotic cardio vascular disease (ASCVD). All the patients were subjected for measurement of carotid intima thickness (CIMT) by ultrasonography. Correlation coefficient was calculated using SPSS software version 18. Result: Total 59 patient (40 males and 19 females) were included in the study. Mean age, duration of diabetes, HbA1c and CIMT were 56.3 ± 10 years, 8.1 ± 6.9 years, 8.2 ± 1.2% and 0.8 ± 0.2 mm respectively. Age, duration of diabetes, HbA1c, total cholesterol, low density cholesterol and triglyceride had significant positive correlation with CIMT (P < 0.05). Among risk score ASCVD, Q risk and UKPDS risk score had positive and significant correlation with CIMT (P < 0.05). Although, FRS had positive correlation, it was not statistically significant. Conclusion: In the absence of South Asian specific risk estimate algorithm Q risk and UKPDS risk score can be used with caution. CIMT is well established indicator of atherosclerosis, hence it can be used to estimate cardiovascular risk and to advise preventive measures.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: Abnormal placentation has been classified into accreta, increta, and percreta on the basis of depth of myometrial invasion. The aim of the study was to evaluate the role of transabdominal ultrasonography (USG) for prediction of placental invasion in the placenta accreta spectrum. Materials and Methods: This was a prospective cohort study carried out over 1 year in the Department of Obstetrics and Gynecology in collaboration with the Department of Radiodiagnosis at King George's Medical University, Lucknow, Uttar Pradesh, India. A total of 110 patients were recruited for the study, of these 20 patients were lost to follow-up. After informed consent and ethical clearance, 90 pregnant women with gestation age of 34 weeks or above (late pregnancy) with previous cesarean section with complaints of bleeding per vaginum or diagnosed on USG as a case of placenta previa with or without accreta were enrolled for the study. Women not giving consent for participation in the study or not having any of above risk factors were excluded from the study. Results: Placental invasion was found in 61.1% (55) on USG. Women with previous two cesarean sections had a placental invasion rate of 74.5%. Women with previous three cesarean sections had the highest placental invasion rate (78.6%), and this association of placental invasion with the number of prior cesarean sections was significant. On transabdominal ultrasound, 68 patients had Grade 3 lacunae, of which 67.6% (46) had invasion. Maximum number of cases (n = 63) had the smallest sagittal myometrial thickness of <1 mm, and invasion was found in 69.8% (44). Out of 90 cases, placental invasion was found in 61.1% (55) by transabdominal USG, and 80% (72) of placental invasion was observed on histopathological examination. Conclusion: In the present study, Grade-3 lacunae, smallest sagittal myometrial thickness of <1mm and more than 1 prior cesarean delivery were associated with placental invasion on USG.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Organizations all over world are trying to shift towards making healthcare intervention more acceptable to the consumers at large, but any intervention made has its costeffective and costbeneficial implications which should be taken into consideration while incorporating changes. A recent change of switching to shorter regimen for multidrugresistant tuberculosis (MDRTB) can be a landmark step in the treatment of the disease but it has its own limitations which need to be addressed.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

This case report describes a rare incidence of etoricoxib-induced toxic epidermal necrolysis (TEN) in a 25-year-old woman. The patient presented with rapidly evolving rashes, initially over the face and upper body but subsequently involving the total body surface area. There was an extensive ulceration of buccal mucosa along with eyelid edema, crusting, and corneal ulceration. Naranjo's and WHO–UMC score for this adverse event was “seven;” hence, causality was “probable.” SCORTEN (severity-of-illness score) was “one” with a predicted mortality of 3.2%. Due to persistent hypotension and risk of impending sepsis, aggressive fluid resuscitation and antibiotics were initiated. Cyclosporine and systemic steroids were added later, following which the patient had a prompt recovery. She was discharged after 28 days of hospitalization. However, etoricoxib-induced TEN is a rare clinical association, with very few previously reported cases.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: Infections due to Streptococcus pneumoniae are responsible for morbidity and mortality in a large proportion of children in developing countries where childhood vaccination has not been widely implemented. S. pneumoniae colonizing the upper respiratory tract of children as a normal commensal is a potential pathogen when it crosses the mucosal barrier and enters the bloodstream. Aims and Objectives: The aim of the study was to analyze the carriage rate of pneumococci among healthy school children and in doing so to analyze the presence of penicillin-binding protein 2b (pbp2b) gene which is responsible for penicillin resistance using polymerase chain reaction. Methods: Nasopharyngeal swabs were collected from school children and processed according to standard microbiological procedures. The genes for penicillin resistance were detected using PCR. Results: The carriage rate was 32.2% and about 14 strains had the pbp2b gene. Conclusion: Pneumococcal carriage among children is important as they can cross the mucosal barrier and cause infection. Constant follow up of the carriage rate have to be performed to prevent further spread.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

The dental problems associated with osteogenesis imperfecta range from discoloration of teeth to malocclusion. A case has been described where an osteogenesis imperfecta patient had chronic gastric problems because of difficulty in chewing and eating as he had a skeletal Class III malocclusion with micrognathia of the maxilla and a reverse overjet. He was unable to chew his food while eating since there was no contact between his upper and lower teeth when he closed his mouth. The challenge was to bring the upper and lower teeth into occlusion. This was done with an overdenture over his teeth in the upper arch. Follow-up was done for 2 years, and the patient had reported to be relieved of his constant gastric problems from which he had been suffering for the past 20 years.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]