scholarly journals WILSON DISEASE

2005 ◽  
Vol 12 (04) ◽  
pp. 446-450
Author(s):  
HINA AYESHA ◽  
AAMIR ALI CHOUDHRY ◽  
MUHAMMED ASGHAR BUTT
Keyword(s):  
Liver Disease ◽  
Wilson Disease ◽  
Neurological Disease ◽  
Molecular Genetic ◽  
Genotypic Differences ◽  
Novel Mutations ◽  
The West ◽  
Medical College ◽  
Genotype 2 ◽  
Frequent Mutations

Objectives: 1). To study the genotypic differences, if any, betweenPakistani children suffering from Wilson’s disease from those in the west and to correlate phenotype with genotype. 2).To find out the most frequent mutations present in our patients and screen out asymptomatic siblings of the index cases.Setting: Department of Pediatrics, Allied Hospital, Punjab Medical College, Faisalabad. Duration: May 1997 to June2005. Materials and methods: 41 patients ranging from 5-18 years were diagnosed based on clinical and laboratorydata. 13 patients and 6 asymptomatic siblings along with their parents were subjected to mutation analysis. at Universityof Vienna, Austria. Results: None of the patients had His1069Gln, the commonest European mutation. R969Q andI1102T detected in our patients have previously been described. Four novel mutations were found. Asymptomaticsiblings screened were either heterozygote or normal. R969Q appears to be associated with sub-acute liver diseasewith hepatosplenomegaly. I1102T was seen in children with chronic liver disease and L1071W, C1079Y and E583R-fs(insA) with early onset of neurological disease. Conclusion: Our Patients are phenotypicaly as well as genotypicalydifferent. Different genotype could be responsible for the phenotype. Further studies are needed with a larger samplesize so that molecular genetic tests be devised for early diagnosis and family screening.

scholarly journals A Novel Mutation of ATP7B Gene in a Case of Wilson Disease

Medicina ◽  
2021 ◽  
Vol 57 (2) ◽  
pp. 123
Author(s):  
Cigdem Yuce Kahraman ◽  
Ali Islek ◽  
Abdulgani Tatar ◽  
Özlem Özdemir ◽  
Adil Mardinglu ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Compound Heterozygous ◽  
Atp7b Gene ◽  
Loss Of Function ◽  
Clinical Presentations ◽  
The Family ◽  
The Brain

Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical presentations of WD are highly varied, primarily consisting of hepatic and neurological conditions. WD is caused by homozygous or compound heterozygous mutations in the ATP7B gene. The diagnosis of the disease is complicated because of its heterogeneous phenotypes. The molecular genetic analysis encourages early diagnosis, treatment, and the opportunity to screen individuals at risk in the family. In this paper, we reported a case with a novel, hotspot-located mutation in WD. We have suggested that this mutation in the ATP7B gene might contribute to liver findings, progressing to liver failure with a loss of function effect. Besides this, if patients have liver symptoms in childhood and/or are children of consanguineous parents, WD should be considered during the evaluation of the patients.

scholarly journals Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations

2008 ◽  
Vol 53 (8) ◽  
pp. 681-687 ◽  
Author(s):  
Tawhida Y. Abdelghaffar ◽  
Solaf M. Elsayed ◽  
Ezzat Elsobky ◽  
Bettina Bochow ◽  
Janine Büttner ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Mutational Analysis ◽  
Atp7b Gene ◽  
Novel Mutations ◽  
Egyptian Children

Association of Adverse Outcomes in Patients with Cirrhosis Presented with COVID-19

2021 ◽  
Vol 15 (5) ◽  
pp. 1134-1135
Author(s):  
M. A. Chhutto ◽  
A. H. Mugheri ◽  
A. H. Phulpoto ◽  
I. A. Ansari ◽  
A. Shaikh ◽  
...  
Keyword(s):  
Liver Disease ◽  
Chronic Liver Disease ◽  
Adverse Outcomes ◽  
Chronic Liver ◽  
P Value ◽  
College Hospital ◽  
Medical College ◽  
Group A ◽  
Group B ◽  
Disease Study

Objective: To determine the association of adverse outcomes in term of mortality in patients with cirrhosis presented with coronavirus disease. Study Design: Retrospective/observational study Place and Duration of Study: Department of Medicine, Chandka Medical College Hospital, Larkana from 1st March 2019 to 31st December 2020. Methodology: Two hundred and twenty covid-19 patients of both genders with or without chronic liver disease were enrolled in this study. Patients were categorized in to two groups. Group A (with cirrhosis 60 patients) and group B (without cirrhosis 60 patients). Outcomes in term of mortality between both groups were examined. Results: There were 38 (63.33%) males and 22 (36.67%) were females with mean age 46.14±8.44 years in group A while in group B, 40 (66.67%) and 20 (33.33%) patients were males and females with mean age 45.26±9.34 years. Patients with cirrhosis had high mortality rate as compared to patients without cirrhosis (33.33% Vs 13.33%) with p-value 0.0001. Conclusion: A significant association of adverse outcomes was found in cirrhotic patients with coronavirus disease. Keywords: Chronic Liver Disease, Corvid-19, Mortality

Clinical and Genetic Characteristics of Phenylketonuria in Ryazan Region

2021 ◽  
Vol 29 (1) ◽  
pp. 5-12
Author(s):  
Grigorii I. Yakubovskii ◽  
Olga B. Serebriakova ◽  
Alina G. Yakubovskaya ◽  
Nadezhda V. Ruban ◽  
Angelina A. Lyakhovets
Keyword(s):  
Blood Level ◽  
Phenylalanine Hydroxylase ◽  
Clinical Course ◽  
Molecular Genetic ◽  
Residual Activity ◽  
Speech Development ◽  
Genetic Characteristics ◽  
Frequent Mutations ◽  
R408w Mutation ◽  
Pah Gene

Aim. This investigation seeks to determine the incidence of phenylketonuria in the Ryazan region, assess the spectrum of mutations in the PAH gene (phenylalanine hydroxylase), investigate the interrelationship between the diseases clinical course, the phenylalanine blood level, and the patients genotype. Materials and Methods. The incidence of phenylketonuria was studied based on the data of massive neonatal screening for the period from 2000 to 2019. Molecular genetic examination of mutations was conducted in 39 patients using the allele-specific multiplex ligation method. The interrelationship between the phenylalanine blood level on the fifth day of life and retest, the diseases clinical course, and the patients genotype was assessed according to the medical record data of 33 patients under dispensary observation in a medico-genetic clinic. The patients were divided into two groups. The first group (n=21) had two severe mutations (residual activity of phenylalanine hydroxylase 10%). The second group (n=12) had one severe and one mild mutation (the residual activity of the enzyme 10%). Results. The incidence of phenylketonuria in the Ryazan region was one in 5054 newborns, exceeding the Russian Federations average parameters. Eighteen mutations were discovered in the PAH gene. The most frequent was the R408W mutation (56.4% alleles). The second most frequent mutations were the IVS10-11GA (6.4%) and P281L (5.1%). The R158Q and Y418C mutations occurred with a frequency of 4.1% and Е280К mutation of 2.7%. All the rest of the mutations occurred as single cases. Investigation of the interrelationship between the phenylalanine blood level, the diseases clinical course, and the patients genotype revealed a reliably higher content of amino acid in the first group on retest (32.11.7 mg/% vs. 17.71.5 mg/% in the second group, р0.001) and predomination of more severe forms of phenylketonuria (90.5% vs. 41.7%, respectively, р0.001). Disorders in neuropsychic and speech development were present in 28.6% of patients in the first group but were absent in the second group. Conclusion. By conducting the study, the incidence of phenylketonuria was determined in the Ryazan region. The spectrum of mutations in the PAH gene was defined. The interrelationship between the diseases clinical portrait, the phenylalanine blood level, and the patients PAH genotype was revealed.

scholarly journals Activation of liver X receptor/retinoid X receptor pathway ameliorates liver disease inAtp7B−/−(Wilson disease) mice

Hepatology ◽  
2016 ◽  
Vol 63 (6) ◽  
pp. 1828-1841 ◽  
Author(s):  
James P. Hamilton ◽  
Lahari Koganti ◽  
Abigael Muchenditsi ◽  
Venkata S. Pendyala ◽  
David Huso ◽  
...  
Keyword(s):  
Liver Disease ◽  
Wilson Disease ◽  
Liver X Receptor ◽  
Retinoid X Receptor

scholarly journals Chandra Anuloma Viloma Pranayama modifies Cardiorespiratory Functions

2016 ◽  
Vol 3 (1) ◽  
pp. 45-51
Author(s):  
S Prakash ◽  
K Upadhyay-Dhungel
Keyword(s):  
Blood Pressure ◽  
Medical Students ◽  
Respiratory Rate ◽  
Left Nostril ◽  
Medical Sciences ◽  
The West ◽  
Significant Drop ◽  
Medical College ◽  
Breathing Exercises ◽  
Yoga Practitioners

Background and Objectives: In recent years, there has been considerable interest in scientific research on yoga, especially on Pranayama. Nostril breathing exercises including Alternate nostril breathing, Left nostril breathing and right nostril breathing exercises is getting attention in the east and in the west. Left nostril breathing exercises is also called Chandra Nadisuddhi Pranayama or Chandra anulomaa vilomaa Pranayama (CAV). Very few have carried out research on Chandra Anuloma Viloma Pranayama (CAV). This study was carried out to see the effects of CAV on experienced yoga practitioners and naïves.Material and Methods: The study consisted of 36 subjects divided into two groups, first group consist of 26 medical students who were naïve and the next group consist of 10 yoga practitioners. All the subjects performed 12 rounds of Chandra Nadisuddhi Pranayama in each session for 24 days. Variables were entered into SPSS Program and were analyzed.Results: This study depicts fall in Pulse rate, respiratory rate, systolic blood pressure and Diastolic blood pressure after CAV Pranayama in both Naïves and Yoga practitioners. But the significant drop was observed in SBP only (at p < 0.05) among Naives and in all parameters except respiratory rate among Yoga Practitioners.Conclusion: The effect of the Chandra Anuloma Viloma (CAV) in this study was more eminent in the yoga practitioners than in the naïve group.Janaki Medical College Journal of Medical Sciences (2015) Vol. 3 (1):45-51

scholarly journals AN AYURVEDIC MANAGEMENT OF ALCOHOLIC LIVER DISEASE W.S.R TO SHAKHASHRITA KAMALA - A CASE STUDY

2021 ◽  
Vol 9 (11) ◽  
pp. 2870-2876
Author(s):  
Samata Samata ◽  
Shaila Borannavar ◽  
Ananta S Desai
Keyword(s):  
Liver Disease ◽  
Alcoholic Liver Disease ◽  
Pathological Condition ◽  
The Body ◽  
Lower Limbs ◽  
Medical College ◽  
Chief Complaints ◽  
Excessive Consumption ◽  
Bilateral Lower Limb ◽  
Deep Yellow

Alcoholic liver disease is a pathological condition of the liver parenchymal tissue due to excessive consumption of alcohol over a long period of 6-10 years or even earlier. Here in we present a case of a married male of 35 yr. old reported in the Panchakarma OPD of SJIIM Government Ayurveda Medical College Bengaluru on 30th -Jan- 2021, with chief complaints of swelling in the bilateral lower limbs, deep yellowish and burning micturition, yel- lowish discoloration of sclera, reduced appetite, nausea and generalized weakness in the body since 3 months, with the increased level of LFT and USG-abdomen report suggesting hepatomegaly with fatty changes, was ex- amined and diagnosed as alcoholic liver disease and treated with Amapachana with Trikatu Churna, Nitya Virechana with Chitraka Haritaki Leha fallowed by Mustadi Yapana Basti had shown a very good improvement in normalizing appetite, bilateral lower limb swelling and deep yellow micturition. Total bilirubin, SGOT and ALP values were reduced. Keywords: Alcoholic Liver disease, Shakhashrita Kamala, Nitya Virechana

scholarly journals Genomic Surveillance and Phylodynamic Analyses Reveal the Emergence of Novel Mutations and Co-mutation Patterns Within SARS-CoV-2 Variants Prevalent in India

2021 ◽  
Vol 12 ◽  
Author(s):  
Nupur Biswas ◽  
Priyanka Mallick ◽  
Sujay Krishna Maity ◽  
Debaleena Bhowmik ◽  
Arpita Ghosh Mitra ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Time Course ◽  
West Bengal ◽  
Genomic Diversity ◽  
Viral Population ◽  
Whole Genome ◽  
Novel Mutations ◽  
Frequent Mutations ◽  
Time Periods

Identification of the genomic diversity and the phylodynamic profiles of prevalent variants is critical to understand the evolution and spread of SARS-CoV-2 variants. We performed whole-genome sequencing of 54 SARS-CoV-2 variants collected from COVID-19 patients in Kolkata, West Bengal during August–October 2020. Phylogeographic and phylodynamic analyses were performed using these 54 and other sequences from India and abroad that are available in the GISAID database. We estimated the clade dynamics of the Indian variants and compared the clade-specific mutations and the co-mutation patterns across states and union territories of India over the time course. Frequent mutations and co-mutations observed within the major clades across time periods do not show much overlap, indicating the emergence of newer mutations in the viral population prevailing in the country. Furthermore, we explored the possible association of specific mutations and co-mutations with the infection outcomes manifested in Indian patients.

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