scholarly journals A CASE REPORT ON WILSON’S DISEASE: A RARE CLINICAL CONDITION OF COPPER DEPOSITION IN LIVER

2021 ◽  
pp. 103-106
Author(s):  
G. KISHORE SWATHI ◽  
B. MANISHA ◽  
R. SHARADHA ◽  
SUSHANTA KUMAR DAS
Keyword(s):  
Wilson’S Disease ◽  
Clinical Symptoms ◽  
Tertiary Care ◽  
Wilson's Disease ◽  
Care Hospital ◽  
High Grade Fever ◽  
Gradual Improvement ◽  
Bile Acid Sequestrants ◽  
Hepatic Involvement ◽  
Chief Complaints

Wilson’s disease is a rare inherited disorder and is characterized by the accumulation of copper in various tissues and also in organs like the liver, brain, kidneys and cornea. Symptoms in paediatrics characteristically appear with hepatic involvement. In this case we have discussed about an eleven-year-old male child, who was presented to the Paediatric department in a tertiary care hospital with chief complaints of yellowish discoloration of eyes, dark coloured urine and high grade fever. Due to the accumulation of copper there were decreased levels of ceruloplasmin and there was an increased 24 hour urinary copper, which confirms the Wilson’s disease in this child. Child was treated with Cephalosporin antibiotics, vitamins, laxative, and bile acid sequestrants. Child showed gradual improvement in clinical symptoms and got discharged without any further event. Quality of evidence was assessed according to the GRADE system. Early diagnosis and management helped to prevent serious complications.

scholarly journals The Pattern of Day Case (Ambulatory) Percutaneous (PCNL): A Descriptive Retrospective Study from a Tertiary Care Hospital

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Rehan Fareed ◽  
Huma Shamim
Keyword(s):  
Retrospective Study ◽  
Tertiary Care ◽  
Ureteral Stones ◽  
Transfusion Rate ◽  
Care Hospital ◽  
High Grade ◽  
High Grade Fever ◽  
Access Methods ◽  
The Mean ◽  
Staghorn Stones

Background: Percutaneous nephrolithotomy (PCNL) has experienced remarkable development and alteration since it was first described in 1976 by Fernstorm et al. It has also experienced miniaturization of equipment, improvement in operative systems, and refining renal access methods leading to the achievement of maximum clearance of stone while causing minimal morbidity. For example, in endourological practice, when the patient is subjected to PCNL, he traditionally needs programmed inpatient admission, as part of their recovery, it is applicable as an outpatient method in properly selected cases. Objectives: We aimed at evaluating the safety and applicability of the outpatient PCNL procedure. Methods: This retrospective study was done on 210 cases of tubeless PCNL performed by a single urologist at our institute from January 2016 to January 2019. Patients’ mean age (134 males and 76 females) was 57 ± 11.8 years, and 7 patients aged 8 - 12 years. There were 71 pelvic or calyceal solitary stones, 62 non-complete staghorn stones, 17 ureteral stones, 32 renal + ureteric stones (simultaneous renal and ureteral stones) , and 28 complete staghorn stones. The average stone size was 3.5 ± 2.8 (range: 0.7 to 11.8 cm). Results: The mean operation duration was 85.0 ± 29.4 min, and the mean hospital stay was 21.7 ± 3.4 h. Out of 210 patients, 6 patients had longer stay due to high-grade fever and 3 patients due to severe pain, and also 7 patients refused discharge due to personal and social reasons. Our ambulatory PCNL rate was 97 % ( 194 out of 210). Within 72 h, 5 patients were readmitted due to high-grade fever, 3 patients due to haematuria, and 4 patients due to pain and dysuria, and all patients were discharged 2 - 4 days after conservative treatment. Thus, the readmission rate was 6.18% (12 cases were readmitted out of 194 cases). Patients showed a blood transfusion rate of 1.4 %. Also, 19 cases (9.02%) were found with post-operative fever, and no urosepsis was reported. No pulmonary complications and mortality were noted. No re-exploration was done, and no major leak was noted. The angio-embolization rate was 0.59%. We did not use HEMO-SEAL technology, cautery, or suture in the tracks. Conclusions: In conclusion, the outpatient PCNL procedure is an applicable and feasible procedure under selected criteria; however, more investigations using a larger sample size are needed.

scholarly journals Cholangiocarcinoma in Wilson’s Disease – a Case Report

2017 ◽  
Vol 26 (3) ◽  
pp. 305-308
Author(s):  
Dániel Németh ◽  
Anikó Folhoffer ◽  
Gábor Smuk ◽  
Béla Kajtár ◽  
Tamás Tornóczky ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Treatment Initiation ◽  
Clinical Symptoms ◽  
Rapid Development ◽  
Primary Tumour ◽  
Chelating Agent ◽  
Wilson's Disease ◽  
Protective Role ◽  
Ceruloplasmin Level

It has been suggested that hepatobiliary carcinomas are less frequent in Wilson’s disease (WD) than in liver diseases of other etiology. However, the protective role of copper against malignancies is debated. Only a few cases of cholangiocarcinoma (CCC) in WD have been published. Here we report on a case of a 47-year-old male H1069Q homozygous, Kayser-Fleischer ring positive WD patient with a low ceruloplasmin level who was followed up and treated with chelating agents throughout nine years. The patient presented with neurological symptoms and liver cirrhosis at diagnosis. Clinical symptoms regressed after the treatment initiation. Rapidly developed tumour metastases were found in the bones, lung and liver (without jaundice). Autopsy revealed cholangiocarcinoma as the primary tumour confirmed by strong CK7 positivity and glypican-3 negativity. The curiosity of the presented case is the very rapid development of CCC despite continuous chelating agent therapy.Abbreviations: CCC: cholangiocarcinoma; HCC: hepatocellular carcinoma; WD: Wilson disease.

scholarly journals Clinical profile of dengue fever in children: analysis of 2017 outbreak from Central Kerala, India

2018 ◽  
Vol 5 (6) ◽  
pp. 2265 ◽  
Author(s):  
Senthil Kumar K. ◽  
Rajendran N. K. ◽  
Ajith Brabhukumar C.
Keyword(s):  
Dengue Fever ◽  
Dengue Infection ◽  
Tertiary Care ◽  
Hemorrhagic Fever ◽  
Warning Signs ◽  
Clinical Profile ◽  
Severe Dengue ◽  
High Morbidity ◽  
Care Hospital ◽  
High Grade Fever

Background: In India, dengue epidemics are becoming more frequent (WHO, 2008). The majority of dengue viral infections are self-limiting, but complications may cause high morbidity and mortality. The objective of this study is to assess the clinical profile of the dengue infection in children less than 15 years of age and to evaluate the outcomes of dengue fever from March 2017 to July 2017 at the Pediatric Department of Karuna Medical College, the tertiary care hospital in Palakkad.Methods: In this retrospective study, medical records were reviewed and analyzed. Patients with suspected dengue infection were classified further into 2 groups, Dengue fever (probable dengue, dengue with warning signs) and ‘Severe Dengue’ (dengue hemorrhagic fever and/or dengue shock syndrome (DHF/DSS) according to WHO.Results: A total of 77 cases were classified into 67 (87%) non-severe and 10 (13%) severe dengue cases. The most common age of presentation was above 10 yrs. The mean age of admission was 8.9 yrs. The most common presenting symptom was fever seen in 93% followed by vomiting in 68%. Elevation in Aspartate transaminase (SGOT) and thrombocytopenia were found in 32.4 %.Conclusions: High grade fever, vomiting, abdominal pain and skin rash with normal or low platelet count were the presenting features. Early diagnosis, monitoring and prompt supportive management can reduce mortality.

scholarly journals Serum Zinc Status in Post Menopausal Women Attending in a Tertiary Care Hospital of Bangladesh

2019 ◽  
Vol 9 (2) ◽  
pp. 147-150
Author(s):  
Nadia Ferdous ◽  
Farzana Akonjee Mishu ◽  
Shamsunnahar ◽  
Fahmida Islam ◽  
Shabnam Sarwar Sejooti
Keyword(s):  
Clinical Symptoms ◽  
Tertiary Care ◽  
Serum Zinc ◽  
Premenopausal Women ◽  
Care Hospital ◽  
College Hospital ◽  
Medical College ◽  
Significant Difference ◽  
Zinc Levels ◽  
Serum Zinc Levels

Background: Nutritional needs change throughout the various stages of life. While overall caloric needs tend to decrease with age, the requirements for individual micronutrients do not decrease. In fact, the needs for some micronutrients actually increase with age. The risk of nutritional disturbances mainly trace elements deficiencies is high during postmenopause causing or intensifying serious clinical symptoms. Methods: This cross-sectional study was carried out in the Department of Biochemistry, Mymensingh Medical College in collaboration with the Department of Obstetrics and Gynecology , Mymensingh Medical College Hospital during the period from July 2013 to June 2014. A total of 100 subjects were included in this study. Among them 50 apperantly healthy postmenopausal womenaged between 45-70 years were considered as case and another 50 regular menstruating premenopausal women aged between 30-40 years were selected as control. Results: The mean age of case and control groups was 50.5± 2.3 years and 36.5± 4.4 years respectively. In this study serum zinc levels in cases and controls were 71.54 ± 5.69 ìg /dl and 74.68 ± 5.453 ìg/dl respectively, and there was significant difference(p<0.01). Conclusion: Serum zinc level was significantly decreased in postmenopausal group in comparison to premenopausal women (p< 0.01). Estimation of serum zinc levels might be incorporated in every postmenopausal for possible prevention of complications. Birdem Med J 2019; 9(2): 147-150

scholarly journals Estimation of Serum Copper in Post-menopausal Women Attending in a Tertiary Care Hospital, Bangladesh

2019 ◽  
Vol 10 (2) ◽  
pp. 110-113
Author(s):  
N Ferdous ◽  
Farzana Akonjee Mishu ◽  
Shamsunnahar ◽  
Syed Md Tanjilul Haque ◽  
ANM Ashikur Rahman Khan ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Tertiary Care ◽  
Premenopausal Women ◽  
Serum Copper ◽  
Copper Level ◽  
Care Hospital ◽  
College Hospital ◽  
Cross Sectional ◽  
Medical College ◽  
Significant Difference

Background: Nutritional needs change throughout the various stages of life. While overall caloric needs tend to decrease with age, the requirements for individual micronutrients do not decrease. In fact, the needs for some micronutrients actually increase with age. The risk of nutritional disturbances mainly trace elements deficiencies is high during postmenopause causing or intensifying serious clinical symptoms. Methods: This cross sectional study was carried out in the Department of Biochemistry, Mymensingh Medical College in collaboration with the Department of Obstetrics and Gynecology, Mymensingh Medical College Hospital during the period from July 2013 to June 2014. A total of 100 subjects were included in this study. Among them 50 apperantly healthy postmenopausal women (Case) aged between 45-60 years were considered as case and another 50 regular menstruating premenopausal women(Control) aged between 30-40 years were selected as control. Results: The mean age of cases and control groups was 50.5±2.3 years and 36.5±4.4 years respectively. In this study we found Serum Copper levels in cases and controls were 115.36±8.836 µg /dl and 90.58 ±6.315 µg/dl respectively had (p< 0.01) significant difference. Conclusion: Serum Copper level was significantly increased in postmenopausal group in comparison to premenopausal women (p< 0.01). Estimation of serum Cu level might be incorporated in every postmenopausal woman for prevention of complications. Anwer Khan Modern Medical College Journal Vol. 10, No. 2: July 2019, P 110-113

scholarly journals Clinico-pathological Correlation with Liver Enzymes in Dengue Infection

2017 ◽  
Vol 27 (Number 2) ◽  
pp. 27-30
Author(s):  
A H M Kamal ◽  
K H Mollah ◽  
K E Khuda ◽  
A Lslam ◽  
N Sultana ◽  
...  
Keyword(s):  
Liver Enzymes ◽  
Dengue Infection ◽  
Tertiary Care ◽  
Signs And Symptoms ◽  
P Value ◽  
Care Hospital ◽  
College Hospital ◽  
Medical College ◽  
Hepatic Involvement ◽  
Atypical Manifestations

Dengue infection is a major vector borne disease. The classical signs and symptoms include high fever, severe headache, chill, and rash. Atypical manifestations of dengue infection with hepatic involvement are frequently reported, ranging from mild elevations of liver enzymes to acute liver failure. Analysis of 110 serologically confirmed cases of dengue infection in Holy Family Red Crescent Medical College hospital a tertiary care hospital was done. Patients with normal aminotransferase levels were categorized into Grade A, patients with at least one of the enzymes raised above normal but less than 3 times were categorized into Grade B, those with at least one of the enzymes elevated more than 3 times but less than 10 times were graded as C, and those with elevations more than 10 times as Grade D. 83.7% patients had alterations of transaminase levels, with 45.5% categorized into grade b, 30.9% into grade C, and 7.3% into grade D or acute hepatitis (P value 0.224). Rise of aspartate aminotransferase (AS7) levels were higher compared to the levels of alanine aminotransferase (AL7). Liver damage with alteration of aminotransferases is a common manifestation of dengue infection and also valuable markers for monitoring these patients.

scholarly journals A retrospective study on management of bell\'s palsy in a tertiary care hospital

2021 ◽  
Vol 11 (2) ◽  
pp. 173-176
Author(s):  
P.K Purushothaman ◽  
Dhanyan Harshidan ◽  
Priyangha Elangovan
Keyword(s):  
Clinical Symptoms ◽  
Tertiary Care ◽  
Bell’S Palsy ◽  
Care Hospital ◽  
Bell's Palsy ◽  
College Hospital ◽  
Medical College ◽  
Therapeutic Measures

Bell's palsy is the most common facial nerve disorder. The clinical symptoms of Bell's palsy include facial muscle paralysis, difficulty in eating, drinking and talking. Bell's palsy management is still controversial. Many patients recover spontaneously; some require medicines like corticosteroids, antiviral drugs and other managements.To study the effectiveness of Bell's palsy management that has been followed in our institution.This analysis had carried out from June 2016 to June 2019at SRM Medical College Hospital and Research Institute, Chennai. Total of 30 patients with Bell's palsy who had admitted in the Department of Otorhinolaryngology had enrolled in this study. All the patients underwent thorough clinical examination and laboratory investigation, and the results were statistically analyzed and discussed.Out of 30 patients, 16(53%) patients were males, and 14(47%) patients were females. 53.3% of patients had onset of symptoms after 48 hours. There was a statistical significant improvement in House-Brackman scale on 6 months follow-up.The therapeutic measures for Bell's palsy if initiated within 72 hours of onset aids in bringing better outcome and improves the quality of life in patients.

scholarly journals Association of variants in the CP, ATOX1 and COMMD1 genes with Wilson disease symptoms in Latvia

2019 ◽  
Vol 22 (2) ◽  
pp. 37-42
Author(s):  
A Zarina ◽  
I Tolmane ◽  
Z Krumina ◽  
AI Tutane ◽  
L Gailite
Keyword(s):  
Wilson’S Disease ◽  
Clinical Symptoms ◽  
Direct Sequencing ◽  
Clinical Manifestations ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Allelic Variants ◽  
Functional Changes ◽  
Pathogenic Variants ◽  
Genotype Frequencies

AbstractWilson’s disease (WD) is a copper metabolism disorder, caused by allelic variants in the ATP7B gene. Wilson’s disease can be diagnosed by clinical symptoms, increased copper and decreased cerulopasmin levels, which could all also be by other genetic variants beyond the ATP7B gene, e.g., disturbed ceruloplasmin biosynthesis can be caused by pathogenic allelic variants of the CP gene. Copper metabolism in the organism is affected by several molecules, but pathogenic variants and related phenotypes are described with COMMD1 and ATOX1 genes. The aim of the study was to test other genes, CP, ATOX1 and COMMD1, for possible influence to the manifestation of WD. Patients were enrolled on the basis of Leipzig’s diagnostic criteria, 64 unrelated patients with confirmed WD. Direct sequencing of promoter region of the CP gene and ATOX1 and COMMD1 gene exons was conducted. Statistically significant differences were found between the two variants in the CP gene and the ATP7B genotype (rs66508328 variant AA genotype and the rs11708215 variant GG genotype) were more common in WD patients with an unconfirmed ATP7B genotype. One allelic (intronic) variant was found in the ATOX1 gene without causing the functional changes of the gene. Three allelic variants were identified in the COMMD1 gene. No statistically significant differences were found between allele and genotype frequencies and the first clinical manifestations of WD. Different variants of the CP gene contributed to a WD-like phenotype in clinically confirmed WD patients with neurological symptoms and without identified pathogenic variants in the ATP7B gene. Allelic variants in the ATOX1 and COMMD1 genes do not modify the clinical manifestation of WD in Latvian patients. (266 words)

On dermatitis exfoliativa universalis subacata (Wilson's disease)

1926 ◽  
Vol 22 (11) ◽  
pp. 1272-1277
Author(s):  
I. A. Levin
Keyword(s):  
Wilson’S Disease ◽  
Skin Diseases ◽  
Clinical Symptoms ◽  
Wilson's Disease ◽  
Characteristic Features ◽  
The 1960S

The classification of skin diseases, despite the successes of dermatology, is still incomplete. There is no single principle that would meet all its requirements, and the confusion that prevailed in the 1960s, not to mention the earlier ones, when, without knowing the essence of most skin diseases, they were grouped only by clinical symptoms, has not disappeared until now. Especially it concerns the diseases close to pityriasis rubra Negae, the characteristic features of which are redness and peeling.

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