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Muscle Biopsy: A Boon for Diagnosis of Mitochondrial Parkinsonism in Developing Countries.

ABSTRACT: Mitochondrial dysfunction plays an important role in the pathogenesis of Parkinson's disease. Primary genetic abnormalities in the mitochondrial DNA or nuclear DNA can cause parkinsonism. Mitochondrial parkinsonism presents with classical features of parkinsonism along with multisystem involvement. Genetic analysis is essential in reaching the diagnosis which is not always possible, especially in developing countries. Muscle biopsy can be a boon in this setting as exemplified in our report of two siblings where a diagnosis of mitochondrial parkinsonism was made on the basis of muscle biopsy.

SUBMITTER: Shree R

PROVIDER: S-EPMC6472221 | biostudies-literature | 2019 Apr-Jun

REPOSITORIES: biostudies-literature

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Muscle Biopsy: A Boon for Diagnosis of Mitochondrial Parkinsonism in Developing Countries.

Shree Ritu R Mehta Sahil S Goyal Manoj K MK Gaspar Balan L BL Lal Vivek V

Annals of Indian Academy of Neurology 20190401 2

Mitochondrial dysfunction plays an important role in the pathogenesis of Parkinson's disease. Primary genetic abnormalities in the mitochondrial DNA or nuclear DNA can cause parkinsonism. Mitochondrial parkinsonism presents with classical features of parkinsonism along with multisystem involvement. Genetic analysis is essential in reaching the diagnosis which is not always possible, especially in developing countries. Muscle biopsy can be a boon in this setting as exemplified in our report of tw ...[more]

PMID: 31007443

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Project description:BackgroundCanine rabies is a neglected disease causing 55,000 human deaths worldwide per year, and 99% of all cases are transmitted by dog bites. In N'Djaména, the capital of Chad, rabies is endemic with an incidence of 1.71/1,000 dogs (95% C.I. 1.45-1.98). The gold standard of rabies diagnosis is the direct immunofluorescent antibody (DFA) test, requiring a fluorescent microscope. The Centers for Disease Control and Prevention (CDC, Atlanta, United States of America) developed a histochemical test using low-cost light microscopy, the direct rapid immunohistochemical test (dRIT).Methodology/principal findingsWe evaluated the dRIT in the Chadian National Veterinary Laboratory in N'Djaména by testing 35 fresh samples parallel with both the DFA and dRIT. Additional retests (n = 68 in Chad, n = 74 at CDC) by DFA and dRIT of stored samples enhanced the power of the evaluation. All samples were from dogs, cats, and in one case from a bat. The dRIT performed very well compared to DFA. We found a 100% agreement of the dRIT and DFA in fresh samples (n = 35). Results of retesting at CDC and in Chad depended on the condition of samples. When the sample was in good condition (fresh brain tissue), we found simple Cohen's kappa coefficient related to the DFA diagnostic results in fresh tissue of 0.87 (95% C.I. 0.63-1) up to 1. For poor quality samples, the kappa values were between 0.13 (95% C.I. -0.15-0.40) and 0.48 (95% C.I. 0.14-0.82). For samples stored in glycerol, dRIT results were more likely to agree with DFA testing in fresh samples than the DFA retesting.Conclusion/significanceThe dRIT is as reliable a diagnostic method as the gold standard (DFA) for fresh samples. It has an advantage of requiring only light microscopy, which is 10 times less expensive than a fluorescence microscope. Reduced cost suggests high potential for making rabies diagnosis available in other cities and rural areas of Africa for large populations for which a capacity for diagnosis will contribute to rabies control.

Project description:IntroductionIn developing countries most patients with refractory erectile dysfunction cannot afford a penile prosthesis (PP) due to its cost and non-coverage by insurance companies.AimTo assess the patient satisfaction outcomes with a novel, low-cost, semi-rigid PP.Methods52 patients who had received the Shah semi-rigid PP between January 2013 and December 2018 were included in this bidirectional study. Patient demographics including age, etiology, body mass index, length of PP received and post-operative complications were recorded. Patient satisfaction with the PP was evaluated using the modified Erectile Dysfunction Inventory of Treatment Satisfaction (EDITS) Questionnaire.Main outcome measuresThe primary outcome measures were overall satisfaction, total EDITS and mean EDITS score. The secondary outcome measures were residual penile tumescence, ease of concealment and post-operative complications.ResultsThe mean age of the patients was 38.79 years (25-68). Overall satisfaction (EDITS Q-1) of 4 (0-4) was reported by 84.62% (44/52) of patients. There was no significant difference (P > .7) in the total EDITS and overall satisfaction based on various etiological factors. The mean EDITS scores (0-100) were 95.67 ± 10.76, 95.53 ± 8.46 and 91.72 ± 22.42 in 52 patients with BMI <25, 25-29.9 and >30 kg/m2 respectively. During sexual arousal after PP implantation, 26 (50%), 17 (32.7%) and 9 (17.3%) patients noted "good", "some" or "no" residual penile tumescence respectively. 47 (90.4%), 4 (7.7%) and 1 (1.9%) patients reported "good", "fair" and "poor" concealment respectively. In the prospective group, major and minor post-operative complications were seen in 10.7% (3/28) and 21.4% (6/28) of patients respectively.ConclusionThe semi-rigid Shah PP is a safe, effective and affordable option to treat patients with refractory ED. The ability to remove 1 or both sleeves in the Shah PP helps achieve a good fit with a small inventory. Krishnappa P, Tripathi A, Shah R. Surgical Outcomes and Patient Satisfaction With the Low-Cost, Semi-Rigid Shah Penile Prosthesis: A boon to the Developing Countries. Sex Med 2021;9:100399.

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Dataset Information

Muscle Biopsy: A Boon for Diagnosis of Mitochondrial Parkinsonism in Developing Countries.

Publications

Muscle Biopsy: A Boon for Diagnosis of Mitochondrial Parkinsonism in Developing Countries.

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