We describe a case of anhidrotic ectodermal dysplasia (AED) with an autosomal recessive mode of i... more We describe a case of anhidrotic ectodermal dysplasia (AED) with an autosomal recessive mode of inheritance, a very rare entity, in a 2-year-old female child of two asymptomatic, consanguineous parents. Their previous child also had a similar condition. Autosomal recessive AED (AR-AED) can have its full expression both in males and females and it is clinically indistinguishable from the x-linked recessive AED (XL-AED), which is the most common type of ectodermal dysplasia. Unlike the partially symptomatic carriers of XL-AED, the heterozygotes of AR-AED are phenotypically asymptomatic.
Tuberculosis verrucosa cutis (TVC) is a common cutaneous form of paucibacillary tuberculosis in a... more Tuberculosis verrucosa cutis (TVC) is a common cutaneous form of paucibacillary tuberculosis in an individual with moderate to high degree of immunity to Mycobacterium tuberculosis infection. Clinical appearance of TVC is mostly very typical with well-defined warty plaques presenting mostly on hands, knees, ankle, and buttocks; however several atypical morphology of the lesions have also been described. We hereby report a case of TVC, masquerading as asymptomatic diffuse keratoderma of left foot for nine months, in an otherwise healthy individual, obstructing easy diagnosis of cutaneous tuberculosis. Diagnosis was confirmed by histopathology.
Little information is available regarding the molecular pathogenesis of Parkinson’s disease (PD) ... more Little information is available regarding the molecular pathogenesis of Parkinson’s disease (PD) among the Bengalee population in West Bengal, India. This study was undertaken to determine the contribution of Parkin variants in well-defined ethnically identical Bengalee population of India and further to describe the clinical spectrum associated with these mutations. A total of 150 unrelated PD patients and 150 controls were recruited for the study. The entire cohort was screened for mutations in all the 12 exons of the gene along with flanking splice junctions by polymerase chain reaction and DNA sequencing. Eleven nucleotide variants including two novel changes were detected. Cerebrospinal fluid (CSF) parkin protein expression of the novel mutation, Val186Ile (found in heterozygous condition in one patient only) was almost 2.7 folds lower than the controls and other PD patients. Molecular characterization of polymorphisms Ser167Asn and Val380Leu depicted that homozygous Ser167 and Val380 are significantly associated with the disease. We did not find any linkage disequilibrium among the SNPs, the low r2 for every pair of single-nucleotide polymorphisms (SNPs) indicated that these SNPs cannot be tagged by each other. Another novel intronic change, IVS8+48C4T was present in almost equally in PD patients and controls. Among the ethnically defined Bengalee population of West Bengal, occurrence of Parkin mutation is 4% (6/150) of the PD patient pool supported with decreased folds of expression of CSF PARKIN protein. Parkin polymorphisms, Ser167 and Val380 are risk factors for the progression of the disease, and their frequency is greatly influenced by ethnic origen.
Aim was to analyze predictors of burden among primary caregivers (CGs) of Indian Parkinson's dise... more Aim was to analyze predictors of burden among primary caregivers (CGs) of Indian Parkinson's disease (PD) patients. 150 PD patients were administered using Unified Parkinson's Disease Rating Scale (UPDRS), Hoehn and Yahr Scale (H&Y), Montgomery Asberg Depression Rating Score (MADRS) and Mini Mental State Examination (MMSE) in this cross-sectional evaluation study. CG burden was assessed by Caregiver's Burden Scale (CBS), Hospital Anxiety and Depression Scale (HADS), SF-36 and 20-itemBurden Assessment Schedule (BAS). Linear regression methods were used to evaluate factors contributing to burden and stress.Mean age of CG was 50.38±16.04 (range: 25-83 yrs).Marital status of CGs was noted to have significant relationship with CBS score (F=9.525, P b 0.0001). Siblings (brother/sister) reported the highest CBS score while the wives reported the least. Correlations were strong between CBS and HADS anxiety (r = 0.228, P = 0.0048) and HADS depression (r = 0.2172, P =0.0076). High correlations were found in caregiving duration, patients' stage of illness and motor disability among all the scales (CBS, HADS, SF36) determined. Step-wise regression analysis showed UPDRS (beta = 1.364–0.202 ranging among all scales) and H&Y stages (beta = 2.786–7.257) to have the strongest influence on CGs. CGs of patients with depression (MADRS: P=0.007 (SF36 mental) and dementia (MMSE: P=0.01) experienced greater stress. Social and financial status was disrupted in ~60% to 80% of the CGs. Motor imbalances with disability of PD patients and severity of disease are the main factors contributing to burden and stress in CGs.
We describe a case of anhidrotic ectodermal dysplasia (AED) with an autosomal recessive mode of i... more We describe a case of anhidrotic ectodermal dysplasia (AED) with an autosomal recessive mode of inheritance, a very rare entity, in a 2-year-old female child of two asymptomatic, consanguineous parents. Their previous child also had a similar condition. Autosomal recessive AED (AR-AED) can have its full expression both in males and females and it is clinically indistinguishable from the x-linked recessive AED (XL-AED), which is the most common type of ectodermal dysplasia. Unlike the partially symptomatic carriers of XL-AED, the heterozygotes of AR-AED are phenotypically asymptomatic.
Tuberculosis verrucosa cutis (TVC) is a common cutaneous form of paucibacillary tuberculosis in a... more Tuberculosis verrucosa cutis (TVC) is a common cutaneous form of paucibacillary tuberculosis in an individual with moderate to high degree of immunity to Mycobacterium tuberculosis infection. Clinical appearance of TVC is mostly very typical with well-defined warty plaques presenting mostly on hands, knees, ankle, and buttocks; however several atypical morphology of the lesions have also been described. We hereby report a case of TVC, masquerading as asymptomatic diffuse keratoderma of left foot for nine months, in an otherwise healthy individual, obstructing easy diagnosis of cutaneous tuberculosis. Diagnosis was confirmed by histopathology.
Little information is available regarding the molecular pathogenesis of Parkinson’s disease (PD) ... more Little information is available regarding the molecular pathogenesis of Parkinson’s disease (PD) among the Bengalee population in West Bengal, India. This study was undertaken to determine the contribution of Parkin variants in well-defined ethnically identical Bengalee population of India and further to describe the clinical spectrum associated with these mutations. A total of 150 unrelated PD patients and 150 controls were recruited for the study. The entire cohort was screened for mutations in all the 12 exons of the gene along with flanking splice junctions by polymerase chain reaction and DNA sequencing. Eleven nucleotide variants including two novel changes were detected. Cerebrospinal fluid (CSF) parkin protein expression of the novel mutation, Val186Ile (found in heterozygous condition in one patient only) was almost 2.7 folds lower than the controls and other PD patients. Molecular characterization of polymorphisms Ser167Asn and Val380Leu depicted that homozygous Ser167 and Val380 are significantly associated with the disease. We did not find any linkage disequilibrium among the SNPs, the low r2 for every pair of single-nucleotide polymorphisms (SNPs) indicated that these SNPs cannot be tagged by each other. Another novel intronic change, IVS8+48C4T was present in almost equally in PD patients and controls. Among the ethnically defined Bengalee population of West Bengal, occurrence of Parkin mutation is 4% (6/150) of the PD patient pool supported with decreased folds of expression of CSF PARKIN protein. Parkin polymorphisms, Ser167 and Val380 are risk factors for the progression of the disease, and their frequency is greatly influenced by ethnic origen.
Aim was to analyze predictors of burden among primary caregivers (CGs) of Indian Parkinson's dise... more Aim was to analyze predictors of burden among primary caregivers (CGs) of Indian Parkinson's disease (PD) patients. 150 PD patients were administered using Unified Parkinson's Disease Rating Scale (UPDRS), Hoehn and Yahr Scale (H&Y), Montgomery Asberg Depression Rating Score (MADRS) and Mini Mental State Examination (MMSE) in this cross-sectional evaluation study. CG burden was assessed by Caregiver's Burden Scale (CBS), Hospital Anxiety and Depression Scale (HADS), SF-36 and 20-itemBurden Assessment Schedule (BAS). Linear regression methods were used to evaluate factors contributing to burden and stress.Mean age of CG was 50.38±16.04 (range: 25-83 yrs).Marital status of CGs was noted to have significant relationship with CBS score (F=9.525, P b 0.0001). Siblings (brother/sister) reported the highest CBS score while the wives reported the least. Correlations were strong between CBS and HADS anxiety (r = 0.228, P = 0.0048) and HADS depression (r = 0.2172, P =0.0076). High correlations were found in caregiving duration, patients' stage of illness and motor disability among all the scales (CBS, HADS, SF36) determined. Step-wise regression analysis showed UPDRS (beta = 1.364–0.202 ranging among all scales) and H&Y stages (beta = 2.786–7.257) to have the strongest influence on CGs. CGs of patients with depression (MADRS: P=0.007 (SF36 mental) and dementia (MMSE: P=0.01) experienced greater stress. Social and financial status was disrupted in ~60% to 80% of the CGs. Motor imbalances with disability of PD patients and severity of disease are the main factors contributing to burden and stress in CGs.
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Papers by Epsita Ghosh
intronic change, IVS8+48C4T was present in almost equally in PD patients and controls. Among the ethnically defined
Bengalee population of West Bengal, occurrence of Parkin mutation is 4% (6/150) of the PD patient pool supported with
decreased folds of expression of CSF PARKIN protein. Parkin polymorphisms, Ser167 and Val380 are risk factors for the
progression of the disease, and their frequency is greatly influenced by ethnic origen.
150 PD patients were administered using Unified Parkinson's Disease Rating Scale (UPDRS), Hoehn and Yahr Scale (H&Y), Montgomery Asberg Depression Rating Score (MADRS) and Mini Mental State Examination (MMSE) in this cross-sectional evaluation study. CG burden was assessed by Caregiver's Burden Scale (CBS), Hospital Anxiety and Depression Scale (HADS), SF-36 and 20-itemBurden Assessment Schedule (BAS). Linear regression methods were used to evaluate factors contributing to burden and stress.Mean age of CG was 50.38±16.04 (range: 25-83 yrs).Marital status of CGs was noted to have significant relationship with CBS score (F=9.525, P b
0.0001). Siblings (brother/sister) reported the highest CBS score while the wives reported the least. Correlations were strong between CBS and HADS anxiety (r = 0.228, P = 0.0048) and HADS depression (r = 0.2172, P =0.0076). High correlations were found in caregiving duration, patients' stage of illness and motor disability among all the scales (CBS, HADS, SF36) determined. Step-wise regression analysis showed UPDRS (beta = 1.364–0.202 ranging among all scales) and H&Y stages (beta = 2.786–7.257) to have the strongest influence on CGs. CGs of patients with depression (MADRS: P=0.007 (SF36 mental) and dementia (MMSE: P=0.01) experienced greater stress. Social and financial status was disrupted in ~60% to 80% of the CGs. Motor imbalances with disability of PD patients and severity of disease are the main factors contributing to burden and stress in CGs.
intronic change, IVS8+48C4T was present in almost equally in PD patients and controls. Among the ethnically defined
Bengalee population of West Bengal, occurrence of Parkin mutation is 4% (6/150) of the PD patient pool supported with
decreased folds of expression of CSF PARKIN protein. Parkin polymorphisms, Ser167 and Val380 are risk factors for the
progression of the disease, and their frequency is greatly influenced by ethnic origen.
150 PD patients were administered using Unified Parkinson's Disease Rating Scale (UPDRS), Hoehn and Yahr Scale (H&Y), Montgomery Asberg Depression Rating Score (MADRS) and Mini Mental State Examination (MMSE) in this cross-sectional evaluation study. CG burden was assessed by Caregiver's Burden Scale (CBS), Hospital Anxiety and Depression Scale (HADS), SF-36 and 20-itemBurden Assessment Schedule (BAS). Linear regression methods were used to evaluate factors contributing to burden and stress.Mean age of CG was 50.38±16.04 (range: 25-83 yrs).Marital status of CGs was noted to have significant relationship with CBS score (F=9.525, P b
0.0001). Siblings (brother/sister) reported the highest CBS score while the wives reported the least. Correlations were strong between CBS and HADS anxiety (r = 0.228, P = 0.0048) and HADS depression (r = 0.2172, P =0.0076). High correlations were found in caregiving duration, patients' stage of illness and motor disability among all the scales (CBS, HADS, SF36) determined. Step-wise regression analysis showed UPDRS (beta = 1.364–0.202 ranging among all scales) and H&Y stages (beta = 2.786–7.257) to have the strongest influence on CGs. CGs of patients with depression (MADRS: P=0.007 (SF36 mental) and dementia (MMSE: P=0.01) experienced greater stress. Social and financial status was disrupted in ~60% to 80% of the CGs. Motor imbalances with disability of PD patients and severity of disease are the main factors contributing to burden and stress in CGs.