Evaluation of the established non-MHC multiple sclerosis loci in an Indian population.

BACKGROUND: Multiple sclerosis (MS) is a chronic demyelinating neurodegenerative disorder with a strong genetic component. OBJECTIVE: The prevalence of MS in India is low compared with white populations of Northern European descent. METHODS: In order to ascertain whether disease susceptibility genes are the same across different populations, we completed the first investigation in the Indian MS population of 15 MS loci outside of the major histocompatibility (MHC) region that were previously identified and validated with MS susceptibility through genome-wide association and replication studies in white populations. RESULTS: In total, 197 Indian patients and 197 unrelated controls were analyzed. The most associated single nucleotide polymorphism (SNP) within this study was rs6897932 in the IL7R gene, which showed a strong protective effect in this data set (rs 6897932, OR = 0.5543, 95% CI = 0.37-0.78, p = 0.0009727). Two other SNPs were nominally associated with MS in this dataset, namely CLEC16A rs 12708716 (p = 0.0082, OR = 1.478, 95% CI = 1.106-1.975) and CD226 rs763361 (p = 0.03971, OR = 1.353, CI = 1.014-1.805). For the majority of the remaining SNPs (7/14), the trend for association was in the same direction as in previous studies in the white population. CONCLUSIONS: Although the power of this study was limited, our preliminary data suggest that disease susceptibility genes in MS in the Indian population may be similar to those of western populations.

Idiopathic CD4+ T-lymphocytopenia--a diagnostic dilemma.

The devastating global impact of acquired immunodeficiency syndrome (AIDS) has greatly sensitized the public to the threat of new microbes that are capable of wrecking havoc on the world's population. The HIV virus infects and depletes CD4+ T lymphocytes. However cases have been described with profound CD4+ T cell lymphocytopenia but without evidence of HIV infection, a condition now termed as "Idiopathic CD4+ T-Lymphocytopenia". This unexpected revelation at the Ninth International AIDS Conference in Amsterdam was a cause of great public concern and extra ordinary media attention. Hence the Centre for Disease Control and Prevention in Atlanta (CDC) reviewed 23179 cases in the CDC AIDS reporting registry and performed interviews medical record reviews and laboratory analysis of blood specimens and finally identified 47 cases that met the CDC case definition of idiopathic CD4+ T cell lymphocytopenia (<300 CD4+Tcells/cumm or a CD4+ cell count <20% of the total T cell on two occasions, no evidence of infection on HIV testing, absence of any defined immunodeficiency or therapy associated with depressed levels of CD4+ T cells). We are hereby reporting one such case we encountered at our centre who presented with monoparesis and subsequently developed multiple cranial nerve palsy and deteriorating sensorium unresponsive to therapy which eventually turned out to be a case of "Idiopathic CD4+ T-Lymphocytopenia" with cryptococcal meningitis.

Hansen's Neuritis Revisited - A Clinicopathological Study.

INTRODUCTION: Leprosy affecting the nerve solely or with concomitant skin lesions is not an uncommon condition in clinical practice. It is responsible for extensive morbidity and often poses a diagnostic challenge. This study aims to highlight the clinicopathological features of Hansen's neuritis (HN). MATERIALS AND METHODS: In this retrospective study, cases of histologically diagnosed HN, from January 2010 to July 2017, were reviewed in the light of clinical features, treatment history, and outcome. RESULTS: There were 18 cases of HN which accounted for 3.97% of total nerve biopsy samples (n = 453) and 0.02% of total histopathology samples (n = 81,013). The male: female ratio was 5:1 in the cases of HN. Age range was 20-79 years with a mean age of 42.4 years (standard deviation: ±14.03). Among the HN cases, there were 13 cases of pure neuritic leprosy (61.1%). Mononeuritis multiplex was the most common finding in the nerve conduction study. Six (33.3%) cases exhibited histological features of borderline tuberculoid leprosy, followed by five (27.8%) cases of mid-borderline features, three (16.7%) cases each of borderline lepromatous and burnt-out HN, and one (5.6%) case of polar tuberculoid leprosy. Lepra bacilli were detected on Fite-Faraco stain in 44.4% cases. CONCLUSION: Diagnosis of HN depends on astute search for skin lesions, nerve thickening or tenderness, sensory or motor symptoms, histopathological examination, and demonstration of lepra bacilli.

Relationship between postural alignment in sitting by photogrammetry and seated postural control in post-stroke subjects.

BACKGROUND & OBJECTIVE: This study was executed to find out correlation between postural alignment in sitting measured through photogrammetry and postural control in sitting following stroke. METHODS: A cross-sectional study with convenient sampling consisting of 45 subjects with acute and sub-acute stroke. Postural alignment in sitting was measured through photogrammetry and relevant angles were obtained through software MB Ruler (version 5.0). Seated postural control was measured through Function in Sitting Test (FIST). Correlation was obtained using Spearman's Rank Correlation co-efficient in SPSS software (version 17.0). RESULTS: Moderate positive correlation (r = 0.385; p < 0.01) was found between angle of lordosis and angle between acromion, lateral epicondyle and point between radius and ulna. Strong negative correlation (r = -0.435; p < 0.01) was found between cranio-vertebral angle and kyphosis. FIST showed moderate positive correlation (r = 0.3446; p < 0.05) with cranio-vertebral angle and strong positive correlation (r = 0.4336; p < 0.01) with Brunnstrom's stage of recovery in upper extremity. CONCLUSION: Degree of forward head posture in sitting correlates directly with seated postural control and inversely with degree of kyphosis in sitting post-stroke. Postural control in sitting post-stroke is directly related with Brunnstrom's stage of recovery in affected upper extremity in sitting.

Effectiveness of mirror therapy on lower extremity motor recovery, balance and mobility in patients with acute stroke: A randomized sham-controlled pilot trial.

OBJECTIVE: To evaluate the effectiveness of mirror therapy on lower extremity motor recovery, balance and mobility in patients with acute stroke. DESIGN: A randomized, sham-controlled, assessor blinded, pilot trial. SETTING: Inpatient stroke rehabilitation unit. SUBJECTS: First time onset of stroke with mean post-stroke duration of 6.41 days, able to respond to verbal instructions, and Brunnstrom recovery stage 2 and above were enrolled. INTERVENTION: Mirror therapy group performed 30 minutes of functional synergy movements of non-paretic lower extremity, whereas control group underwent sham therapy with similar duration. In addition, both groups were administered with conventional stroke rehabilitation regime. Altogether 90 minutes therapy session per day, six days a week, for two weeks duration was administered to both groups. OUTCOME MEASURES: Lower extremity motor subscale of Fugl Meyer Assessment (FMA), Brunnel Balance Assessment (BBA) and Functional Ambulation Categories (FAC). RESULTS: Amongst the 22 patients included, equal number of patients participated in mirror group (N = 11) and control group (N = 11). Baseline variables were similar in both groups, except for Brunnstrom recovery stage. There was no statistical difference between groups, except for FAC. (FMA: P = 0.894; BBA: P = 0.358; FAC: P = 0.02). Significance was set at P < 0.05. CONCLUSION: Administration of mirror therapy early after stroke is not superior to conventional treatment in improving lower limb motor recovery and balance, except for improvement in mobility.