Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.

Background: Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the cells' lysosomes. A beta-Glucosidase (GBA) gene defect results in glucocerebrosidase enzyme deficiency. Though the disease is mainly diagnosed in childhood, the adult manifestation is often missed or identified late due to the failure to recognize the heterogeneous clinical presentation.

Assessment of microbiological status after successful completion of intermittent revised national tuberculosis control programme directly observed treatment, short course regimen for microbiologically confirmed pulmonary tuberculosis cases: While new daily regimen going to be implemented in India.

Purpose: The Revised National Tuberculosis Control Programme (RNTCP) is now introducing daily fixed-dose regimen instead of Directly Observed Treatment, Short Course (DOTS) regimen for treatment of drug-sensitive tuberculosis (TB) in India. It would be beneficial to understand the drawbacks, barriers and advantages of the existing system for better implementation of new policy. Our study was aimed to evaluate the current microbiological status of new microbiologically confirmed pulmonary TB patients who have successfully completed intermittent DOTS regimen within last 2 years and also to find the economic barriers faced by beneficiaries to avail DOTS treatment.

Major Risk Factors in Head and Neck Cancer: A Retrospective Analysis of 12-Year Experiences.

Background: Head and neck cancer (HNC) is the seventh most common type of cancer in the world and constitute 5% of the entire cancers worldwide. The global burden of HNC accounts for 650,000 new cases and 350,000 deaths worldwide every year and a major proportion of regional malignancies in India. More than 70% of squamous cell carcinoma of the head and neck are estimated to be avoidable by lifestyle changes, particularly by effective reduction of exposure to well-known risk factors such as tobacco smoking and alcohol drinking.

Trichobezoar: Ravenous for Hair.

Unlabelled: Trichophagia is the habit of chewing hair. On an average, only 1% patients with trichophagia develop trichobezoar. They are usually symptomless until they reach a large size.

A Clinical and Microbiological Evaluation of Helicobacter pylori in Recurrent Aphthous Stomatitis.

Aim: The aim of this study is to evaluate the association of Helicobacter pylori in recurrent aphthous stomatitis (RAS) with or without peptic ulcer.

Materials And Methods: A total of 42 patients were selected for the present study from outpatient Department of Oral Medicine, and divided into control (group I) and test groups (groups II, III). A total number of 15 patients suffering from RAS based on history and clinical examination was selected as group II.

Evidence-based Review, Grade of Recommendation, and Suggested Treatment Recommendations for Melasma.

Treatment of melasma is known to be less satisfactory, often incomplete, and relapse is frequent. Although many treatment options are available, they are either known to be unsafe on long-term use or their long-term safety profile is unknown. Patients often use various drugs, even topical steroid-based preparation without any medical supervision for long period of time, making the skin unsuitable for many of the drugs available.

Evaluation of Role of GnRH Antagonist in Intrauterine Insemination (IUI) Cycles with Mild Ovarian Hyperstimulation (MOH): A Prospective Randomised Study.

Aims And Objective: To evaluate the role of GnRH antagonist in prevention of premature LH surge and increasing pregnancy rates in IUI cycle with mild ovarian hyperstimulation (MOH).

Study Design: Prospective parallel, randomised controlled study.

Material And Methods: Couples diagnosed with unexplained, male factor subfertility and with one or both tubes patent were randomised to receive either a GnRH antagonist (study group) or no intervention (control group).

NMR-based urinary profiling of lactulose/mannitol ratio used to assess the altered intestinal permeability in acute on chronic liver failure (ACLF) patients.

The article presents a simplified NMR-based protocol for urinary profiling of lactulose/mannitol ratio (LMR) and demonstrates here its utility to assess increased intestinal permeability (IP) in patients with acute on chronic liver failure (ACLF). ACLF is a serious clinical complication associated with chronic liver disease (cirrhosis). The major risk factor in its development is increased IP ('leaky gut'), which has been linked to disease progression and to infectious complications.

Congenital Spondylolytic Spondylolisthesis of C2 Vertebra Associated With Atlanto-Axial Dislocation, Chiari Type I Malformation, and Anomalous Vertebral Artery: Case Report With Review Literature.

Background: Congenital spondylolytic spondylolisthesis of C2 vertebra resulting from deficient posterior element of the axis is rarely described in the literature.

Case Description: We describe a unique case of agenesis of posterior elements of C2 with craniovertebral junction anomalies consisting of osseous, vascular, and soft tissue anomalies. A 26-year-old man presented with symptoms of upper cervical myelopathy of 12 months' duration.

Uncontrolled haemorrhage in pelvic fracturesd---Can the inevitable be avoided?

Pelvic fractures carry a considerable risk for morbidity and mortality. Half or more of the early deaths in these patients have been attributed directly to haemorrhage. The transfusional requirements are four times higher for open pelvic fractures compared with a similar group of closed pelvic fractures.

On-Demand Guided Bone Regeneration with Microbial Protection of Ornamented SPU Scaffold with Bismuth-Doped Single Crystalline Hydroxyapatite: Augmentation and Cartilage Formation.

Guided bone regeneration (GBR) scaffolds are futile in many clinical applications due to infection problems. In this work, we fabricated GBR with an anti-infective scaffold by ornamenting 2D single crystalline bismuth-doped nanohydroxyapatite (Bi-nHA) rods onto segmented polyurethane (SPU). Bi-nHA with high aspect ratio was prepared without any templates.

Utility of ultrasound and magnetic resonance imaging in prenatal diagnosis of placenta accreta: A prospective study.

Context: Placenta accreta is the abnormal adherence of the placenta to the uterine wall and the most common cause for emergency postpartum hysterectomy. Accurate prenatal diagnosis of affected pregnancies allows optimal obstetric management.

Aims: To summarize our experience in the antenatal diagnosis of placenta accreta on imaging in a tertiary care setup.

Dietary Deficiency of Cobalamin Presented Solely as Schizoaffective Disorder in a Lacto-Vegetarian Adolescent.

Cobalamin is an important nutrient. It is not synthesized in human body and supplied only in nonvegetarian diet. Its deficiency reported with range of psychiatric disorders.

Case series: Pregnancy Outcome in Patients with Uterine Fibroids.

Fibroids in pregnancy is a commonly encountered clinical entity. Objective of this study was to evaluate the maternal and fetal outcome in women having pregnancy with uterine fibroids. We present the clinical, obstetric data, perinatal outcomes of 15 patients from a prospective study.

Effect of endometrial biopsy on intrauterine insemination outcome in controlled ovarian stimulation cycle.

Objective: The objective was to evaluate the effect of endometrial biopsy (EB) on intrauterine insemination (IUI) outcome in controlled ovarian stimulation (COS) cycle.

Design: Prospective randomized control study.

Setting: Tertiary care center.

Awareness and practices regarding bio-medical waste management among health care workers in a tertiary care hospital in Delhi.

Health care institutions are generating large amount of Bio-Medical Waste (BMW), which needs to be properly segregated and treated. With this concern, a questionnaire based cross-sectional study was done to determine the current status of awareness and practices regarding BMW Management (BMWM) and areas of deficit amongst the HCWs in a tertiary care teaching hospital in New Delhi, India. The correct responses were graded as satisfactory (more than 80%), intermediate (50-80%) and unsatisfactory (less than 50%).

How better is random blinded re-checking results in revised national TB Control Programme, India?

Background: The Revised National Tuberculosis Control Programme (RNTCP) is implementing the External Quality assurance (EQA) and Random blinded re-checking (RBRC) as one of its important component. This nationwide study was conducted to determine (1) the number and types of RBRC errors and (2) the sensitivity and specificity among rechecked slides.

Materials And Methods: The study was based on the monthly RBRC reports submitted by ~13,000 designated microscopy centres (DMCs) across the country under routine programmatic settings in 2010.

Cerebral gliosarcoma: Analysis of 16 patients and review of literature.

Background: Gliosarcoma (GS), a subtype of glioblastoma (GBM), is a rare primary neoplasm of the central nervous system. Certain features like temporal lobe affinity, tendency for extraneural metastasis and poorer outcome compared to GBM indicate that GS may indeed be a separate clinicopathologic entity. This led us to revisit this entity in our settings.

Systematic review of drug utilization studies & the use of the drug classification system in the WHO-SEARO Region.

Background & Objectives: Information available on drug consumption is inadequate in most low and middle income countries. This systematic review was conducted to analyse published work on drug utilization research/studies (DUR) in the SEARO region of WHO for study objectives, methodology, results and recommendations and to identify the need for improving DUR and the use of the ATC/DDD system.

Methods: A literature search for DUR was carried out in biomedical databases (PubMed, Scirus, Scopus and Google Scholar) up to May 2012.

Missed Central Venous Guide Wires: A Systematic Analysis of Published Case Reports.

Objective: The inadvertent loss of an entire guide wire during central venous catheterization can lead to serious patient harm and require additional investigations as well as retrieval procedures. We aimed to analyze globally published reports of lost wires during central venous catheterization to understand its possible etiology, presentation, treatment, and outcomes with an objective of finding solutions to make the procedure safer.

Data Sources: MEDLINE, Scopus, and CINAHL, supplemented by scanning the reference lists of relevant publications.

Epidemiological and clinical pattern of dermatomycoses in rural India.

Superficial fungal infections are most common in tropical and subtropical countries. In this study, 297 suspected superficial fungal infection cases were identified among 15,950 patients screened. The collected samples (skin, nail, and hair) were subjected to direct microscopy with potassium hydroxide and cultured on Sabourauds dextrose agar to identify the fungal species.