Disorders In Indian Population Research Articles

Stomatognathic Risk Factors and Clinical Manifestations of Temporomandibular Disorders in Indian Population: A Case-control Study.

This study was aimed to compare the risk factors and associated clinical manifestations of patients with temporomandibular disorders (TMDs) in the Indian population. A total of 52 patients were explored according to the Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) and compared with 48 controls. The mean age of the study group was 30.96 ± 11.60 years, 41% were males and 59% were females. The mean age in the control group was 31.5 ± 9.9 years (37.5% males), measuring differences in TMD risk factors (self-perceived stress, parafunctions, occlusal interferences, history of orthodontic treatment, and/or extraction). The most common sign observed in the selected subjects was the joint sound (clicking) (42%), followed by mandibular deviation 39% as the second most common sign. Myofascial pain (MFP) (single or multiple diagnoses) was the most frequent diagnosis (n = 40, 76%), followed by disc displacement with reduction (DDWR) (32.1%), arthralgia (30%), and disc displacement without reduction (DDWoR) (7.6%). More than one DC/TMD diagnosis was established in 63.2% of the patients. The risk factors like presence of clenching, stress perception, parafunctions, tooth wear, and occlusal interferences were significantly more frequent in all the cases than in the respective controls. In the studied population, the presence of TMD was found to be positively related to factors namely female gender, parafunction, occlusal interferences, psychological stress, and tooth wear. Myofascial pain is the commonest diagnosis (either single or in combination). It is followed by DDWR (either single or in combination with others). Double diagnosis is also common. Temporomandibular disorders showed a female predilection and were found to be positively related to factors, viz., parafunction, occlusal interferences, stress, and tooth wear. Clinicians should also be aware of common clinical manifestations of TMDs and their related stomatognathic risk factors to provide comprehensive oral care and to identify such factors for disease prevention.

Evaluation of Oral Health and Associated Factors in Patients with Various Psychiatric Disorders in Indian Population

Background: In addition to physically healthy living, mental health is equally important. It affects people from all walks of life and occurs at all socioeconomic levels. The number of people suffering from mental disorders worldwide is estimated to be approximately 450 million. Every individual should understand that poor oral health affects general health regardless of the cause.
 Objectives: This study is designed to assess the oral health status of patients with a range of psychiatric problems in the Indian population and to find out the correlation of oral health and related constituents in these patients.
 Methodology: Patients visiting the outpatient department of the hospital (AVBRH,Wardha) diagnosed with any of the psychiatric disorders will be evaluated. Extra oral and intraoral assessments will be performed and information will be recorded. Statistics will be analysed using the ANOVA test.
 Results: There might be correlation between oral health and associated factors in the various psychiatric disorders.
 Conclusion: A non-discriminatory guideline which addresses the needs of these patients irrespective of their illness, financial state, and other restrictions is required. Provisions can be made so that oral health need assessment of these patients is included in general health assessment. Health promotion programs could be created in collaboration with health, social and voluntary organizations. Early attention with a multidisciplinary team is the goal.

Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population.

Neurological diseases are phenotypically and genotypically heterogeneous. Clinical exome sequencing (CES) has been shown to provide a high diagnostic yield for these disorders in the European population but remains to be demonstrated for the Indian population. The study aimed to understand the utility of clinical exome sequencing for the diagnosis of neurodevelopmental disorders. A cohort of 19 idiopathic patients with neurological phenotypes, primarily intellectual disability and developmental delay, were recruited. CES covering 4620 genes was performed on all patients. Candidate variants were validated by Sanger sequencing. CES in 19 patients provided identified 21 variants across 16 genes which have been associated with different neurological disorders. Fifteen variants were reported previously and 6 variants were novel to our study. Eleven patients were diagnosed with autosomal dominant de novo variants, 7 with autosomal recessive and 1 with X-linked recessive variants. CES provided definitive diagnosis to 10 patients; hence, the diagnostic yield was 53%. Our study suggests that the diagnostic yield of CES in the Indian population is comparable to that reported in the European population. CES together with deep phenotyping could be a cost-effective way of diagnosing rare neurological disorders in the Indian population.

Prevalence and Risk Factors for Oral Potentially Malignant Disorders in Indian Population.

Background:The present study was conducted to assess risk factors and prevalence of potentially malignant disorders (PMDs) among Indian population.Materials and Methods:1280 Indian population of both genders were enrolled. Habits such as smoking bidi, cigarette, consumption of tobacco such as in the form of zarda, chaini khaini, pan masala, arecanut, and alcohol were recorded. Risk factors and prevalence rate of disorders were recorded.Results:There were 750 (58.6%) males and 530 (41.4%) females. Speckled leukoplakia was seen among 470 (36.7%), oral lichen planus (OLP) in 246 (19.2%), oral submucous fibrosis (OSMF) in 274 (21.4%), erythroplakia in 120 (9.3%), and oral squamous cell carcinoma (OSCC) in 107 (8.3%) participants. Maximum cases of speckled leukoplakia (162) was seen in the age group of 31–40 years, OLP (99) in 41–50 years, OSMF (95) in 31–40 years, erythroplakia (48) in 21–30 years, OSCC (44) in 41–50 years.Conclusion:Risks factors associated with PMDs were found to be tobacco and arecanut. There was higher prevalence of leukoplakia. Age group of 31–40 years had higher cases and most common site was buccal mucosa and vestibule.

English

BACKGROUND Depression is a major public health problem. Irrespective of socio-economic status, age, education, gender and it exists in every community. Suicidal risk is most common life-threatening situation among depressed individuals. According to World Health Organization (WHO), every year about 1 million people die from suicide and 20 times more people attempt suicide. Up to 50 % of persons with depressive disorder will make a suicide attempt at least once in their lifetime. There is a wide disparity in the rates of suicide across different countries and hence, a greater understanding of region-specific factors related to suicide would enable prevention strategies to be more culturally sensitive. We intended to study suicidal behaviour in depressive disorder in Indian population as understanding of region-specific factors related to suicide helps to plan culturally sensitive preventive strategies. METHODS 130 subjects diagnosed as suffering from depressive disorder according to International Classification of Disease (ICD-10) diagnostic criteria for research, who were having suicidal ideation were selected. The subjects were divided into two groups as suicidal attempters and non-attempters, and analysed using the Hamilton Depression Rating Scale (HAMD) to rate the severity of depression and Hamilton Anxiety Rating Scale (HAMA) to assess severity of anxiety and Columbia Suicide Severity Rating Scale (C-SSRS) was used to assess severity of suicidal behaviour. Columbia risk assessment version was used to determine risk factors and protective factors and a semi-structured proforma was used to collect the socio-demographic details of the participants. RESULTS High HAMA and HAMD score, urban residence, unemployment and agitation were found to be significantly associated with the presence of suicidal attempt. CONCLUSIONS Urban residence, unemployment, severity of depression and anxiety, and agitation were found to be associated with increased risk of suicidal attempts. Responsibility to family or living with family was found to be associated with decreased risk of suicidal attempts. KEYWORDS Suicidal Ideation, Agitation, Depression, Anxiety

Role of age at onset in the clinical presentation of bipolar disorder in Indian population.

Objective:The objective of this study was to determine any association of age at onset (AAO) with clinical presentation of bipolar disorder (BD) and family history of illness.Materials and Methods:A hospital-based cross-sectional observational study was conducted including 162 patients having a diagnosis of BD current episode manic. Individuals were divided into three subgroups according to AAO, i.e., early-onset BD (EOBD) (AAO ≤21 years), intermediate-onset BD (AAO – 22–34 years), and late-onset BD (AAO ≥35 years). The subgroups were compared on clinical variables; items of the Young Mania Rating Scale (YMRS), Hamilton Depression Rating Scale (HAM-D), and Scale for the Assessment of Positive Symptoms (SAPS); and family history of illness.Results:The early-onset group had significantly more episodes per year than the other groups (P < 0.001). The prevalence of family history of mood disorder was also significantly higher in the early-onset group than the other subgroups. AAO was found to be significantly associated with different items of YMRS, HAM-D, and SAPS. The early-onset group had higher rating on irritability, motor activity–energy, sexual interest, depressed mood, delusions, and thought disorders, whereas the late-onset group had higher rating on elevated mood.Conclusion:EOBD can be considered as a specific phenotype of BD, which is more homogenous, severe, and inheritable form of illness.

Temporomandibular disorders in North Indian population visiting a tertiary care dental hospital.

Background:The terminology “temporomandibular disorders” (TMDs) encompasses a wide spectrum of conditions. Several hypothesized causes are occlusal disharmony, muscle hyperactivity, central pain mechanisms, psychological distress, and trauma. In day-to-day practice, TMDs had become more prevalent in Indian population due to changed dietary pattern and food habits, excessive stress of modern life, and other environmental causes. This study is an attempt to find the prevalence of TMDs in North Indian population.Aims:The present study is taken into account to determine the prevalence of TMDs on the basis of signs and symptoms based on the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD).Materials and Methods:The present cross-sectional study was conducted in the Department of Oral Medicine and Radiology. A total of 1009 patients aged between 6 and 80 years with a mean age of 42.04 ± 16.8 years seeking dental treatment from January 2016 to June 2017 were included in the study. All the patients were screened for TMD sign and symptoms. The demographic data and the signs and symptoms of TMDs were recorded in designed structured questionnaires which were based on the RDC/TMD criteria.Results:The study population consisted of 1009 patients aged between 6 and 80 years. In the present study population, based on RDC/TMD criteria, the incidence of clicking sound (42.5%) was highest in TMD joint followed by deviation of mandible on mouth opening (40.8%), internal derangement (36.8%), myofacial pain dysfunction syndrome (33.7%), osteoarthritis (29.5%), crepitus (25.8%), joint tenderness (5.8%), and pain on mouth opening (4.8%).Conclusion:Clicking sound was the most common sign of TMD disorders in Indian population.

Clinical and anorectal manometry profile of patients with functional constipation and constipation-predominant irritable bowel syndrome.

Functional constipation (FC) and constipation-predominant irritable bowel syndrome (IBS-C) have significant healthcare impact. Clinical and investigative data of patients with these disorders in Indian population is scarce. We aimed to compare the clinical and anorectal manometric profile of patients with FC and IBS-C. Consecutive patients with chronic constipation undergoinganorectal manometry (ARM) and balloon expulsion test (BET) were enrolled. Thirty healthy volunteers served as controls (HC). Functional defecatory disorder (FDD) was diagnosed according to ROME IV criteria if both ARM and BET were abnormal. Of the 231 patients enrolled (median age 47years, 87.8% males), FC and IBS-C were diagnosed in 132 (57.1%) and 99 (42.9%) patients, respectively. Significant clinical differences between FC and IBS-C patients included older age, lower stool frequency/week, higher frequency of straining, and greater frequency of incomplete evacuation (p < 0.001). ARM revealed abnormal defecatory pattern in 55.3% (n = 73) FC patients and 47.5% (n = 47) IBS-C patients. Of them, 54.7% (40/73) of FC patients had inadequate defecatory propulsion while 89.4% (42/47) of the IBS-C patients had dyssynergic defecation (p < 0.001). Abnormal BET was seen in 67.4% of FC patients and 43.4% of IBS-C patients. Thus, FDD was diagnosed in 55.3% and 46.5% of FC and IBS-C patients, respectively. Rectal hyposensitivity was present in 60.6% of FC patients compared with 2% of IBS-C patients (p < 0.001). There were significant differences in clinical and manometric profile of FC and IBS-C patients. Compared with IBS-C patients, FC patients were older, had higher prevalence of FDD, less often had dyssynergic defecation, and had higher prevalence of rectal hyposensitivity.

Paradigm for disease deconvolution in rare neurodegenerative disorders in Indian population: insights from studies in cerebellar ataxias

Cerebellar ataxias are a group of rare progressive neurodegenerative disorders with an average prevalence ranges from 4.8 to 13.8 in 100,000 individuals. The inherited disorders affect multiple members of the families, or a community that is endogamous or consanguineous. Presence of more than 3000 mutations in different genes with overlapping clinical symptoms, genetic anticipation and pleiotropy, as well as incomplete penetrance and variable expressivity due to modifiers pose challenges in genotype-phenotype correlation. Development of a diagnostic algorithm could reduce the time as well as cost in clinicogenetic diagnostics and also help in reducing the economic and social burden of the disease. In a unique research collaboration spanning over 20 years, we have been able to develop a paradigm for studying cerebellar ataxias in the Indian population which would also be relevant in other rare diseases. This has involved clinical and genetic analysis of thousands of families from diverse Indian populations. The extensive resource on ataxia has led to the development of a clinicogenetic algorithm for cost-effective screening of ataxia and a unique ataxia clinic in the tertiary referral centre in All India Institute of Medical Sciences. Utilizing a population polymorphism scanning approach, we have been able to dissect the mechanisms of repeat instability and expansion in many ataxias, and also identify founders, and trace the mutational histories in the Indian population. This provides information for genetic testing of at-risk as well as protected individuals and populations. To dissect uncharacterized cases which comprises more than 50% of the cases, we have explored the potential of next-generation sequencing technologies coupled with the extensive resource of baseline data generated in-house and other public domains. We have also developed a repository of patient-derived peripheral blood mononuclear cells, lymphoblastoid cell lines and neuronal lineages (derived from iPSCs) for ascribing functionality to novel genes/mutations. Through integrating these technologies, novel genes have been identified that has broadened the diagnostic panel, increased the diagnostic yield to over 75%, helped in ascribing pathogenicity to novel mutations and enabled understanding of disease mechanisms. It has also provided a platform for testing novel molecules for amelioration of pathophysiological phenotypes. This review through a perspective on CAs suggests a generic paradigm fromdiagnostics to therapeutic interventions for rare disorders in the context of heterogeneous Indian populations.

Auditory P300 event-related potential: Normative data in the Indian population.

To generate the normative data of auditory P300 event-related potential for various age groups in the Indian population. Auditory P300 event-related potentials, using the oddball paradigm, of healthy control participants in studies carried out at our institute were included to generate normative data in the age range of 10-50 years. The amplitude and latency of P300 for Fz, Cz, and Pz were selected for analysis. For P300 amplitude, overall multivariate analysis of variance (MANOVA) was significant [Pillai's Trace F (9/453) = 3.46, P < 0.001]. Follow-up ANOVA showed significant difference across age groups at Fz, Cz, and Pz. For P300 latency, there was a trend towards significance for overall MANOVA [Pillai's Trace F (9/453) = 1.68, P = 0.09]. Follow-up ANOVA showed a trend towards significant difference across age groups at Fz only. Our study generated a P300 amplitude and frequency normative database at Fz, Cz, and Pz, which will serve as a reference for future studies attempting to define P300 abnormalities in various psychiatric disorders in Indian population.

GW28-e0556 Myocardial Infraction is the most prevalent cardiac disorder in Indian population

GW28-e0556 Myocardial Infraction is the most prevalent cardiac disorder in Indian population

Esophageal motility disorders-Symptomatic and manometric spectrum in Punjab, northern India.

Data on the spectrum of esophageal motility disorders in Indian population are scarce. We aimed to study the symptomatic and manometric profile of patients with suspected esophageal motility disorders. Consecutive patients with esophageal symptoms who underwent esophageal high-resolution manometry (HRM) from January 2010 to December 2014 were included in this retrospective analysis of prospectively acquired data. HRM was performed with 22-channel water-perfusion system and patients classified using Chicago classification v3.0. Of the 401 patients studied [median age 43 (18-85) years; 61% males], 217 presented with dysphagia, 157 with predominant retrosternal discomfort and 27 with predominant regurgitation. Among patients with dysphagia, 43.8% had ineffective esophageal motility [IEM], 26.3% had achalasia cardia [AC], 6.9% had distal esophageal spasm [DES] and 19.4% had normal manometry [NM]. Among patients with retrosternal discomfort, 42.7% had IEM, 5.7% had AC, 4.5% had DES and 42% had NM. AC was significantly more common among patients presenting with dysphagia compared to those with retrosternal discomfort [p<0.001] or regurgitation [p<0.001]. NM was significantly more common among patients presenting with retrosternal symptoms compared to those with dysphagia [p<0.001]. AC patients had longer duration of dysphagia, more frequent bolus obstruction and more weight loss compared to those with IEM or NM [p<0.05]. Dysphagia was the commonest presenting symptom followed by retrosternal discomfort. Ineffective esophageal motility (not achalasia cardia) was the commonest manometric finding both among patients with dysphagia and retrosternal discomfort. This study highlights the high prevalence of IEM among patients with esophageal symptoms, which can present with dysphagia or retrosternal discomfort due to poor bolus transit.

Age and gender-specific reference intervals for lysosomal enzymes in dried blood spot samples: A study in Indian population

ObjectivesThe study aimed to establish age and gender-specific reference values for the activities of lysosomal enzymes (acid α-galactosidase [GLA], acid β-glucocerebrosidase [GBA], acid α-glucosidase [GAA], acid sphingomyelinase [ASM] and galactocerebrosidase [GALC]) in dried blood spots (DBS) of Indian population. Design and methodsA total of 3797 healthy Indian subjects (1456 females and 2341 males) aged from 2days to 60years were selected for the study. Activities of 5 lysosomal enzymes were determined by tandem mass spectrometry, for newborns (<30days), infants (>1month–1year), children (>1–5years) and (>5–18years) and adults (>18years).Variations in enzyme activities based on age and gender were studied. The reference interval was defined as the central 95% range, and was determined based on age and gender. ResultsHighly significant differences in activities were observed for GAA (p=0.001), GLA (p<0.0001), GBA (p<0.0001), ASM (p<0.0001) and GALC (p<0.0001), between different age groups. Comparison of activities between genders showed significant difference for ASM in children aged 1–5years (p=0.03) with higher activity in females, and for GLA in children aged 5–18years (p=0.004) where the activity was higher in males. Reference intervals decreased with age for all enzymes, except GAA. The ranges of GLA and GALC were higher in females, whereas GBA was higher in males. ConclusionThe study establishes age and gender-specific reference values for the screening and identification of lysosomal storage disorders in Indian population. Our data may facilitate establishment of mass screening programs for these disorders in India.

Spectrum of Esophageal Motility Disorders in Patients with Motor Dysphagia and Noncardiac Chest Pain ‑ A Single Center Experience

ABSTRACT Aims and Objective: High‑resolution esophageal manometry is the most important investigation for the evaluation of patients with dysphagia and noncardiac chest pain (NCCP). Chicago Classification (CC) utilizing an algorithmic approach in analyzing high‑resolution manometry has been accepted worldwide, and an updated version, CC v3.0, of this classification has been developed by the International high‑resolution manometry working Group in 2014. Data on the spectrum of esophageal motility disorders in Indian population are scarce as well as a newer version of CC has not been used to classify. The aim of our study is to evaluate clinical presentation and manometric profile of patients with suspected esophageal motility disorders using CC v3.0. Methodology: In this retrospective study, consecutive patients referred for esophageal manometry at our center from 2010 to 2015 were included in the study. High‑resolution esophageal manometry was performed with 22‑channel water‑perfusion system (MMS, The Netherlands). Newer version of CC (CC v3.0) was used to classify motility disorders. Results: A total of 400 patients were included, with a mean age of 44 years and 67.5% were males. Out of these, 60% (n = 240) patients presented with motor dysphagia while 40% (n = 160) had NCCP. Motility disorder was present in 50.5% (n = 202) of the patients while 49.5% (n = 198) patients had normal manometry. Disorders of esophagogastric junction outflow were the predominant type of disorder, found in 33.75% (n = 135). About 14.25% (n = 57) of the patients had minor disorders of peristalsis while 5% (n = 20) of the patients had other major disorders of peristalsis. Achalasia was the most common motility disorder present in 30% (n = 120) patients. Conclusion: Dysphagia was the most common esophageal symptom followed by NCCP in our series. Achalasia was the most common esophageal motility disorder followed by fragmented peristalsis.

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.

Mucopolysaccharidoses (MPS), a subgroup of lysosomal storage disorders, are caused due to deficiency of specific lysosomal enzyme involved in catabolism of glycosaminoglycans. To date more than 200 pathogenic variants in the alpha-l-iduronidase (IDUA) for MPS I and ∼500 pathogenic variants in the iduronate-2-sulphatase (IDS) for MPS II have been reported worldwide. The mutation spectrum of MPS type I and MPS type II disorders in Indian population is not characterized yet. In this study, we carried out clinical, biochemical, molecular and in silico analyses to establish the mutation spectrum of MPS I and MPS II in the Indian population. We conducted molecular analysis for 60 MPS-affected patients [MPS I (n = 30) (Hurler syndrome = 17, Hurler-Scheie syndrome = 13), and MPS II (n = 30) (severe = 18, attenuated = 12)] and identified a total of 44 [MPS I (n = 22) and MPS II (n = 22)] different pathogenic variants comprising missense, nonsense, frameshift, gross deletions and splice site variants. A total of 20 [MPS I (n = 14), and MPS II (n = 6)] novel pathogenic sequence variants were identified in our patient cohort. We found that 32% of pathogenic variants detected in IDUA were recurrent and 25% in MPS II. This is the first study revealing the mutation spectrum of MPS I and MPS II patients in the Indian population.

Prevalence and Risk Factors for Oral Potentially Malignant Disorders in Indian Population

Objective. To assess the prevalence of oral potentially malignant disorders and to determine the potential risk factors for its development in Indian population. Materials and Methods. This cross-sectional study was carried out on 1241 individuals in Indore, Madhya Pradesh. A questionnaire was designed to record information about sociodemographic characteristics, oral hygiene practices, dietary habits, and risk factors for oral potentially malignant disorders. Oral mucosal lesions were examined by a skilled person. Results. The overall prevalence of oral potentially malignant disorders was found to be 13.7% with oral submucous fibrosis (8.06%) found to be more common and erythroplakia (0.24%) found to be least prevalent. Results of Logistic Regression analysis showed that males (OR = 2.09, P value < 0.0001) who were ever consumers of tobacco (OR = 2.06, P value = 0.030) and areca nut chewing (OR = 2.64, P value = 0.004) were more likely to develop oral potentially malignant disorders compared to never consumers. Diabetic (OR = 2.21, P value = 0.014) and underweight individuals (OR = 2.23, P value = 0.007) were more likely to suffer from oral potentially malignant disorders. Conclusion. The study reinforces the association of tobacco and areca nut consumption with oral potentially malignant disorders. An association of oral potentially malignant disorders with diabetes and BMI was confirmed by this study.

Frequency distribution of autoimmunity associated FCGR3B gene copy number in Indian population.

Amongst several human genome variations, copy number variations (CNVs) are considered as an important source of variability contributing to susceptibility to wide range of diseases. Although CNV is scattered for genes throughout the human genome, several of autoimmunity related genes have CN variation and therefore play an important role in susceptibility to autoimmune diseases. The association of the Fc gamma receptor 3B (FCGR3B) gene copy number in autoimmunity is well characterized in various populations studied. The Fc gamma receptor is a low affinity, glycosylphosphatidylinositol-linked receptor for IgG molecule predominantly expressed on human neutrophils. The variable gene copy number of FCGR3B is found to be involved in the impaired clearance of immune complexes, which significantly contribute to the pathogenesis of several autoimmune diseases such as systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), type-1 diabetes and others. The FCGR3B copy number ranged from 0 to ≥ 2 copies per diploid genome in other populations, but yet not explored in Indian population. Hence, this study aims to evaluate the variation in the frequency distribution of FCGR3B CNV in Indian population. FCGR3B gene copy number varied significantly when compared to other population of the world. This observation will help us in exploring the potential role of CNV in FCGR3B gene and its association to autoimmune disorders in Indian population.

Molecular analysis of mucopolysaccharidoses: identification and characterization of pathogenic mutations in Indian population

Background Mucopolysaccharidosis (MPS) are a group of rare inherited metabolic disorders which are caused due to the deficiency of a specific lysosomal enzyme involved in the catabolism of glycosaminoglycans. These disorders show a wide clinical spectrum ranging from severe, intermediate and mild phenotypes. Most of them show overlapping clinical features such as corneal clouding, coarse facies, hepatosplenomegaly, skeletal dysplasia, short stature, dysostosis multiplex, joint stiffness, joint contractures, cardiovascular and respiratory difficulties. Certain MPS disorders also show impaired neurological functions leading to mental retardation. They are inherited as an autosomal recessive with exception of MPS II, which is X-linked recessive disorder. They exhibit clinical, genetic as well as molecular heterogeneity. To date more than 200 mutations in IDUA, ~ 500 in IDS, ~ 200 in GALNS and ~ 200 in ARSB have been reported worldwide. The mutation spectrum of MPS disorders in Indian population is not characterized and established yet. This study was done to establish mutation spectrum in the Indian population that can be useful for the design of cost-effective strategies towards the molecular diagnosis of MPS disorders.

Study of socio-demographic profile, phenomenology, course and outcome of bipolar disorder in Indian population

Context: Though many researchers have made an attempt to study the phenomenology, clinical syndromes, course of bipolar mood disorder. However there was no orderliness in the research pursuit of understanding this disorder in the Indian context. Aims: Assessment of socio-demographic profile, age of onset, phenomenology, course and outcome of patients with bipolar disorder in south Indian population. Settings and Design : This prospective-retrospective study was done in a general hospital psychiatric unit including both out-patient and in-patients. Materials and Methods : All patients were diagnosed with bipolar disorder during out- and in-patient setting was evaluated by using the semi-structured questionnaires and standard tools for socio-demographic profile, age of onset, phenomenology and course and outcome in-patients with bipolar disorder. Results: In 100 bipolar patients socio-demographic data suggest mean age of presentation was 34 years, with majority being males, married, belonging to Hindu religion and were from rural background. Mean age of onset of illness was 27 years total mean number of episodes were 5.26 ± 7.4 (mania: 3.72 ± 5.2, depression: 2.1 ± 1.3). Majority had 2-5 episode (n = 62) commonly followed by recurrent mania (n = 22). Mean duration of symptoms were 116.2 ± 145.2 days in depression and 109.3 ± 124.9 days in mania. Two-third reduction in symptomatology was seen in 80% of in-patients at the time of discharge. Conclusions : Recurrent mania was a commonly observed phenomenon and duration of suffering in both phases (depression and mania) was nearly 4 months. We need long-term follow-up of these group of patients for better course and outcome data from developing country.

Does conventional defecography has a role to play in evaluation of evacuatory disorders in Indian population?

Barium studies are one of the best investigations for evaluating submucosal and extrinsic mass lesions. However, barium studies bring less money, are operator dependent and one of the more difficult investigations for radiologists to master. Economic factors have acted as powerful disincentives for performing gastrointestinal (GI) fluoroscopy in most radiology practices. In this pictorial essay, we discuss the role of conventional defecography in evaluating evacuatory disorders in the Indian population.