Mrinalkanti Ghosh

Familial, environmental, and occupational risk factors in development of amyotrophic lateral sclerosis.

Background: Definite etiology of amyotrophic lateral sclerosis (ALS) is still a matter of debate. Aims: The study was designed to evaluate the role of environmental, occupational, and familial risk factors in development of ALS. Materials and Methods: This was a case control study of 110 cases of definite ALS with 240 age and sex matched controls. Investigations were done on the following aspects- family history, occupation, living place, source of drinking water, exposure to industrial, chemical, agricultural toxins and heavy metals, physical and electrical injury, working under magnetic field for more than 10 years in both the groups. Clinical examinations, electrophysiological, and neuroimaging studies were done in every patient. Chi square test, logistic regression analysis, and calculation of odds ratio were used to analyze the data. Results: Rural livings (odds ratio = 1.99), smoking (odds ratio = 1.88), insecticides, and pesticides exposures (odds ratio = 1.61), electrical injury (odds ratio = 6.2) were detected as the associated factors in development amyotrophic lateral sclerosis. Conclusions: The study expressed the need of extensive research globally in molecular and genetic levels to detect the associated factors in etiopathogenesis of ALS for better understanding the etiology and for remedial aspects.

Prediction of Clinical Outcome in Acute Hemorrhagic Stroke from a Single CT Scan on Admission

Background: From a single CT scan in primary intracerebral hemorrhage (ICH), clinical outcome can be assessed on admission by using the CT scan parameters. Aims: The study aims to find out how hematoma volume, location of stroke, midline shift, intraventricular extension of bleed and ventricle compression influence the clinical outcome in patients with acute ICH. Materials and Methods: Non-contrast CT scan was done on admission in hospital for every patient with acute hemorrhagic stroke and was analyzed accordingly. Clinical assessments were done in National Institute of Health Stroke Scale (NIHSS). Chi-square test and multiple logistic regression analysis were used for statistical analysis. Results: Mean hematoma volume associated with death before 30 days is 33.16 cm3 (P < 0.0001), with survived after 30 days is 15.45 cm3 (P < 0.0001), with NIHSS score ≥16 is 29.03 cm3 (P < 0.0001) and with NIHSS score <16 is 13.69 cm3 (P < 0.0001). Independent poor prognostic factors were hematoma volume > 30 cm3 (OR = 27.857), brain stem hemorrhage (OR = 6.000), intraventricular extension of bleed from other location (OR = 7.846), presence of ventricular compression alone (OR = 2.700) and in combination with midline shift of ≥ 5 mm (OR = 2.124). Conclusions: From a single CT scan during hospital admission, mortality and morbidity in next 30 days can be predicted. A hematoma volume >30 cm3, brain stem hematoma, intraventricular extension of bleed and ventricular compression along and with midline shift are associated with early mortality in ICH.

Role of Familial, Environmental and Occupational Factors in the Development of Parkinson’s Disease

Background: Despite intensive research during the past several decades, the cause of Parkinson’s disease remains unknown. Infections, toxins, lifestyle and hereditary factors have all been supposed to play a role in the genesis of Parkinson’s disease. The final mechanisms of neuronal injury and death are probably similar, where both genetic and environmental factors are important, and these two factors interact along the etiopathogenic pathway. Objective: The purpose of the present study is to evaluate the role of familial, environmental and occupational factors in the development of Parkinson’s disease. Methods: We evaluated 345 cases of idiopathic Parkinson’s disease (215 males, 130 females; mean age 62 ± 2 years) and 370 controls (220 males, 150 females; mean age 62 ± 3 years) between January 2003 and January 2008 with regard to the following aspects in detail: place of living, family history of Parkinson’s disease and tremor, source of drinking water, exposure to insecticides, pesticides, herbicides and industrial toxins, acute poisoning, CNS infections and head injury. The duration of exposure to the risk factors and the history of Parkinson’s disease among the cases were investigated after obtaining written informed consent from cases and controls. Results and Conclusions: Family history of Parkinson’s disease and familial tremor (p = 0.035), exposure to insecticides and pesticides (p = 0.049), well water use for drinking purposes (p = 0.03), Japanese B encephalitis (p = 0.04) and acute organophosphate poisoning (p = 0.046) were associated with the development of Parkinson’s disease in this region of India. Further research is needed at the epidemiological, genetic and molecular levels for a better understanding of the etiopathogenesis of Parkinson’s disease as well as remedial aspects.

Joubert syndrome: the molar tooth sign of the mid-brain.

Joubert syndrome (JS) is a very rare, autosomal-recessive condition. It is characterized by agenesis of cerebellar vermis, abnormal eye movements with nystagmus, episodes of hyperpnea and apnea, delayed generalized motor development, retinal coloboma and dystrophy and, sometimes, multicystic kidney disease. The importance of recognizing JS is related to the outcome and its potential complications. Prenatal diagnosis by ultarsonography and antenatal magnetic resonance imaging (MRI) is also possible. We have diagnosed a case of JS in a male infant with history of delayed mental and motor milestone development, history of abnormal breathing pattern, abnormal limb movement, generalized hypotonia and abnormal head movements with nystagmus. MRI showed hypoplastic cerebellar vermis with hypoplasia of the superior cerebellar peduncle resembling the “Molar Tooth Sign” in the mid-brain.

Discontinuation of secondary preventive treatment of stroke: An unexplored scenario in India

OBJECTIVE This prospective study will evaluate the socioeconomic factors responsible for the discontinuation of secondary preventive treatment of stroke in India and its outcome. DESIGNS METHODS: A total of 1212 stroke patients (male=708, mean age 58 ± 2 years; female=504, mean age 56 ± 2 years; intra-cerebral haemorrhage=496; ischaemic=716) were enrolled in the stroke clinic for secondary preventive treatment from 1st January 2006 to 1st January 2008 and were followed up at 4-6-week intervals. Among them, 512 patients were grouped as being below the poverty line. Discontinuation of treatment for more than 2 weeks by a patient placed that patient in a group labelled discontinued. Outcomes of discontinuation of secondary preventive treatment were evaluated with respect to (1) control of risk factors, (2) recurrence of stroke, and (3) mortality rate. Reasons for the discontinuation were comparatively analysed with respect to awareness, education, economy, distance, and daily cost of treatment, types of stroke and disability status. RESULTS AND ANALYSIS During the study period of 2 years, the following was observed: 420 patients (34.65%) discontinued secondary preventive treatment; 112 patients (9.24%) dropped out; 680 patients (56.10%) continued. Chi-square and null hypothesis procedures were applied for statistical analysis. Distance, economy, poor awareness on stroke, low educational level, types of stroke, cost of treatment and disability status all were significant factors in the discontinuation of treatment. The discontinued group had poor control of risk factors, higher recurrence of both types of stroke and higher mortality. CONCLUSIONS Discontinuation of secondary preventive treatment due to diverse socioeconomic factors results in greater recurrence and disabilities among stroke survivors, and these findings should be reported to national and international planning authorities to strengthen preventive measures to achieve better outcomes and reductions of the stroke burden globally.

Menkes kinky hair disease: A case report

An eight month old male infant with protein energy malnutrition was admitted in the hospital with the history of repeated attacks of convulsion since four months of age. He was also suffering from frequent attacks of cough and cold since 6 months of age which was marked prior to admission. The infant had fair complexion, sparse fuzzy wooly hair with marked trunkal hypotonia. He had also mental retardation. Serum copper and ceruloplasmin levels were low, MRI showed prominent extraaxial spaces with gliosis, MR angiography revealed tortuosity of cerebral vessels. Microscopic examination of hair revealed pili torti. The patient was diagnosed as Menkes disease and treated symptomatically. For lack of facilities we were not able to do genetic study.

Hydatid cyst in rectus abdominis muscle in a child: An unusual occurrence

Hydatid cysts usually involve the liver; extrahepatic localization is reported in 11% of all cases of abdominal hydatid disease. Cyst at unusual localization includes kidney, heart, spleen, pancreas and brain. Isolated involvement of muscle is also rare in children. Here is a case of hydatid cyst in a female child involving the rectus abdominis muscle, which is a very rare presentation. There were no cysts in any other location. Serological tests were negative for cystic echinococcosis. The patient was operated on and the cyst was completely excised. The pathologic examination confirmed the diagnosis of hydatid cyst.

Assessment of CYP 17 Gene Polymorphism in Subjects with Polycystic Ovarian Syndrome and Central Obesity in an Indian Subpopulation

Abstract An inconsistent association of the C/T allelic polymorphism at -34 site in the promoter region of the CYP17 α hydroxylase gene with polycystic ovarian syndrome (PCOS) and its metabolic complications has been observed throughout the world. The researchers aimed to find out any possible link of this polymorphism with PCOS and central obesity in a subpopulation of Eastern India. Serum testosterone, waist hip ratio (WHR) and body mass index (BMI) were analyzed in 60 PCOS cases against 54 matched control women. From RFLP analysis of the Msp A1 digest of the PCR product of the target gene, the researchers assessed the association of the C/T polymorphism with PCOS and body fat indices in the case group. Significant increases in serum testosterone value and WHR were observed among the case group (p < 0.001) without any definite increase in BMI (p = 0.08). Allelic distribution for C/T polymorphism was in Hardy Weinberg equilibrium. The researchers did not find any significant association of C/T polymorphism with PCOS (χ2 of 1.13 with p = 0.28 and Odds ratio of 0.75 with a range of 0.448 – 1.26 at 95% CI) as well as with the WHR (χ2 of 0.1 with p = 0.75 and Odds ratio of 0.89 with a range of 0.426 – 1.85 at 95% CI). The results implicate that CYP 17α hydroxylase gene is not associated with hyperandrogenemia and central obesity in PCOS patients in this study population and therefore suggest search for other candidate genes for this disorder in this region.