scholarly journals Clinical aspects, food management, and clinical evolution of a cat with hypertrophic muscular dystrophy

2022 ◽  
Vol 52 (2) ◽  
Author(s):  
Mathias Reginatto Wrzesinski ◽  
Marcelo Luís Schwab ◽  
Dênis Antonio Ferrarin ◽  
Angel Ripplinger ◽  
Júlia da Silva Rauber ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
X Chromosome ◽  
Young Male ◽  
Clinical Aspects ◽  
Tongue Protrusion ◽  
Clinical Evolution ◽  
Food Management ◽  
Mixed Breed ◽  
Dystrophin Deficiency ◽  
History Of

ABSTRACT: Hypertrophic feline muscular dystrophy (HFMD), rarely reported in the literature, is a disease caused by a hereditary recessive dystrophin deficiency linked to the X chromosome, mainly affecting young male cats. Here, we presented the clinical aspects, food management, and clinical evolution of a seven-year-old mixed-breed cat diagnosed with HFMD, having a primary history of progressive tongue protrusion.

Dystrophin-Deficient Muscular Dystrophy in a Labrador Retriever

2002 ◽  
Vol 38 (3) ◽  
pp. 255-261 ◽  
Author(s):  
Robert L. Bergman ◽  
Karen D. Inzana ◽  
William E. Monroe ◽  
Linda G. Shell ◽  
Ling A. Liu ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Correct Diagnosis ◽  
Clinical Signs ◽  
Young Male ◽  
Labrador Retriever ◽  
Dystrophin Deficiency ◽  
Hereditary Myopathy ◽  
Diagnosis And Classification ◽  
Mode Of Inheritance

Sex-linked muscular dystrophy associated with dystrophin deficiency has been reported in several breeds of dogs and is best characterized in the golden retriever. In this case report, a young, male Labrador retriever with dystrophin-deficient muscular dystrophy is presented. Clinical signs included generalized weakness, lingual hypertrophy, and dysphagia. Electromyographic abnormalities including complex repetitive discharges were present. Serum creatine kinase concentration was dramatically elevated. Histopathological changes within a muscle biopsy specimen confirmed a dystrophic myopathy, and dystrophin deficiency was demonstrated by immunohisto-chemical staining. While X-linked muscular dystrophy has not previously been reported in the Labrador retriever, a hereditary myopathy with an autosomal recessive mode of inheritance has been characterized. A correct diagnosis and classification of these two disorders are critical for breeders and owners since both the mode of inheritance and the prognosis differ.

scholarly journals A case of a combination of Duchenne muscular dystrophy with chromosomal mosaicism 45.X / 46.XX

1997 ◽  
Vol XXIX (1-2) ◽  
pp. 73-75
Author(s):  
М. P. Tulskaya ◽  
G. K. Yudina
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
X Chromosome ◽  
Case History ◽  
Peripheral Blood ◽  
Chromosomal Mosaicism ◽  
Rare Combination ◽  
History Of ◽  
Duchenne's Muscular Dystrophy

The paper is concerned with a case history of a girl with a rare combination of 2 rare anomalies monosomia by X chromosome and Duchenne's muscular dystrophy. Mosaicism 45,X/46,XX in a girl with a mild picture of Duchenne's muscular dystrophy was confirmed by a study of the kariotype in lymphocytes of the peripheral blood.

scholarly journals X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers

Genes ◽  
2019 ◽  
Vol 10 (11) ◽  
pp. 919 ◽  
Author(s):  
Viggiano ◽  
Madej-Pilarczyk ◽  
Carboni ◽  
Picillo ◽  
Ergoli ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
X Chromosome ◽  
Clinical Symptoms ◽  
Fibrous Tissue ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Cardiac Conduction ◽  
Asymptomatic Carriers ◽  
Cardiac Symptoms ◽  
Female Carriers

X-linked Emery–Dreifuss muscular dystrophy (EDMD1) affects approximately 1:100,000 male births. Female carriers are usually asymptomatic but, in some cases, they may present clinical symptoms after age 50 at cardiac level, especially in the form of conduction tissue anomalies. The aim of this study was to evaluate the relation between heart involvement in symptomatic EDMD1 carriers and the X-chromosome inactivation (XCI) pattern. The XCI pattern was determined on the lymphocytes of 30 symptomatic and asymptomatic EDMD1 female carriers—25 familial and 5 sporadic cases—seeking genetic advice using the androgen receptor (AR) methylation-based assay. Carriers were subdivided according to whether they were above or below 50 years of age. A variance analysis was performed to compare the XCI pattern between symptomatic and asymptomatic carriers. The results show that 20% of EDMD1 carriers had cardiac symptoms, and that 50% of these were ≥50 years of age. The XCI pattern was similar in both symptomatic and asymptomatic carriers. Conclusions: Arrhythmias in EDMD1 carriers poorly correlate on lymphocytes to a skewed XCI, probably due to (a) the different embryological origin of cardiac conduction tissue compared to lymphocytes or (b) the preferential loss of atrial cells replaced by fibrous tissue.

Young Male with Bilateral ICA Dissection: Beyond CADISS Trial

2021 ◽  
pp. 251660852098428
Author(s):  
Vikas Bhatia ◽  
Chirag Jain ◽  
Sucharita Ray ◽  
jay Kumar
Keyword(s):  
Management Strategies ◽  
Young Male ◽  
Acute Onset ◽  
The Body ◽  
Artery Dissection ◽  
Cervical Artery Dissection ◽  
Stroke Study ◽  
History Of

Objective: To report a case of young male with stroke and bilateral internal carotid artery (ICA) dissection. Background: Cervical Artery Dissection in Stroke Study trial has provided some insight on management of patients with ICA dissection. However, there is a need to modify the management strategies as per specific clinical scenario. Design/Methods: Case report and literature review. Results: A 45-year-old male presented with 1 month old history of acute onset numbness of right half of the body with slurring of speech. Computed tomography angiography showed complete occlusion of left cervical ICA just beyond origin with presence of fusiform dilatation and spiral flap in right extracranial cervical ICA. The patient was started on antiplatelets and taken for endovascular procedure using 2-mesh-based carotid stents. Patient was discharged after 3 days on antiplatelet therapy. At 1-year follow-up, there were no fresh symptoms. Conclusion: This case emphasizes the role of successful endovascular management of carotid dissection in a young male. These clinical situations may not be fully represented in trials, and a case-based approach is required.

scholarly journals Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case report

2019 ◽  
Vol 3 (3) ◽  
Author(s):  
Paola Dolader ◽  
Ella Field ◽  
Anna Sarkozy ◽  
Juan Pablo Kaski
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Muscular Dystrophy ◽  
Neuromuscular Disorders ◽  
Elevated Serum ◽  
Becker Muscular Dystrophy ◽  
Neuromuscular Disorder ◽  
Chain Gene ◽  
Septal Hypertrophy ◽  
History Of ◽  
Myocardial Involvement

Abstract Background  Becker muscular dystrophy (BMD) is a neuromuscular disorder associated with myocardial involvement. The most frequent presentation is dilated cardiomyopathy. There have been isolated reports of hypertrophic cardiomyopathy (HCM) in association with BMD, but it is unclear whether these patients had an additional aetiology. Case summary  A 10-year-old boy was diagnosed with BMD having presented with a history of muscular pain during exercise and elevated serum creatine kinase levels. A cardiac screening was arranged and the echocardiogram confirmed an asymmetric septal hypertrophy. Given the unusual finding of HCM in this patient with BMD, we performed genetic testing for HCM-causing mutations and identified a likely pathogenic variant in heterozygosis in the beta-myosin heavy chain gene. Discussion  This case highlights the importance of considering additional aetiologies of cardiac disease in the presence of infrequent phenotypic expressions in neuromuscular disorders.

scholarly journals Autophagy in the heart is enhanced and independent of disease progression in mus musculus dystrophinopathy models

2019 ◽  
Vol 8 ◽  
pp. 204800401987958
Author(s):  
HR Spaulding ◽  
C Ballmann ◽  
JC Quindry ◽  
MB Hudson ◽  
JT Selsby
Keyword(s):  
Skeletal Muscle ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Disease Progression ◽  
Gene Mutations ◽  
Dystrophin Gene ◽  
Mdx Mice ◽  
Dystrophin Deficiency ◽  
Muscle Wasting Disease ◽  
Dystrophin Protein

Background Duchenne muscular dystrophy is a muscle wasting disease caused by dystrophin gene mutations resulting in dysfunctional dystrophin protein. Autophagy, a proteolytic process, is impaired in dystrophic skeletal muscle though little is known about the effect of dystrophin deficiency on autophagy in cardiac muscle. We hypothesized that with disease progression autophagy would become increasingly dysfunctional based upon indirect autophagic markers. Methods Markers of autophagy were measured by western blot in 7-week-old and 17-month-old control (C57) and dystrophic (mdx) hearts. Results Counter to our hypothesis, markers of autophagy were similar between groups. Given these surprising results, two independent experiments were conducted using 14-month-old mdx mice or 10-month-old mdx/Utrn± mice, a more severe model of Duchenne muscular dystrophy. Data from these animals suggest increased autophagosome degradation. Conclusion Together these data suggest that autophagy is not impaired in the dystrophic myocardium as it is in dystrophic skeletal muscle and that disease progression and related injury is independent of autophagic dysfunction.

scholarly journals Venipuncture Induced Complex Regional Pain Syndrome Presenting as Inflammatory Arthritis

2016 ◽  
Vol 2016 ◽  
pp. 1-4
Author(s):  
Punit Pruthi ◽  
Pramod Arora ◽  
Manoj Mittal ◽  
Anugrah Nair ◽  
Waqia Sultana
Keyword(s):  
Complex Regional Pain Syndrome ◽  
Inflammatory Arthritis ◽  
Young Male ◽  
Pain Syndrome ◽  
Poor Response ◽  
History Of ◽  
Diagnostic Modalities ◽  
Musculoskeletal Ultrasonography ◽  
The Right

Venipuncture is one of the most commonly done medical procedures. We report a unique case of a 23-year-old young male who presented with features suggestive of inflammatory arthritis. The symptoms, which initially started on the right side, also involved the other side after a few weeks. Although the patient’s symptoms and signs were simulating inflammatory arthritis, he had atypical features like poor response to anti-inflammatory medicines and normal laboratory parameters. His musculoskeletal ultrasonography was also not suggestive of arthritis. His history was reviewed and on direct questioning he revealed a history of venipuncture for blood sample withdrawal, done from right antecubital region for routine health check on the day prior to the onset of symptoms. Complex regional pain syndrome was suspected and triple-phase radioisotope bone scan was done which was highly suggestive of this diagnosis. The patient was managed with multidimensional approach and responded very well to the treatment. Complex regional pain syndrome is usually not thought of in the initial differential diagnosis of inflammatory arthritis. In this report we highlight the need to elicit the often overlooked history of trivial trauma like venipuncture, especially in atypical cases of arthritis. Also the role of newer diagnostic modalities in such cases is emphasized.

Congenital Temporomandibular Joint Ankylosis: Clinical Characterization and Natural History of Four Unrelated Affected Individuals

2005 ◽  
Vol 42 (6) ◽  
pp. 694-698 ◽  
Author(s):  
Vera Lúcia Gil-da-Silva-Lopes ◽  
Daniela Varela Luquetti
Keyword(s):  
Natural History ◽  
Temporomandibular Joint ◽  
Clinical Aspects ◽  
Temporomandibular Joint Ankylosis ◽  
History Of ◽  
Joint Ankylosis

The objective of this study was to describe four unrelated patients affected by congenital temporomandibular joint ankylosis. Clinical delineation, natural history, and possible etiologies are discussed. Clinical aspects that are important for follow-up are outlined.

Pseudallescheria boydii Species Complex Fungal Rhinitis and Sinusitis in a Dog

2011 ◽  
Vol 47 (5) ◽  
pp. 365-369 ◽  
Author(s):  
Kristine Bruskiewicz ◽  
Martin Crawford-Jakubiak
Keyword(s):  
Species Complex ◽  
Human Pathogen ◽  
Pseudallescheria Boydii ◽  
Mixed Breed ◽  
History Of

A 9 yr old male castrated Australian shepherd mixed-breed dog with a 3 mo history of intermittent unilateral epistaxis was diagnosed with Pseudallescheria boydii species complex fungal rhinitis and sinusitis. This fungal organism is a rare cause of disease in dogs and an emerging human pathogen. The dog was successfully treated with topical clotrimazole.

scholarly journals Prevalence of NAFLD in Healthy and Young Male Individuals

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Asif Niaz ◽  
Zafar Ali ◽  
Shaista Nayyar ◽  
Naureen Fatima
Keyword(s):  
Liver Disease ◽  
Fatty Liver ◽  
Alcohol Intake ◽  
Young Male ◽  
Difficult Problem ◽  
Liver Fat ◽  
Renal Diseases ◽  
Nonalcoholic Fatty Liver ◽  
History Of ◽  
Ultrasound Evidence

Introduction. Nonalcoholic fatty liver disease (NAFLD) is an important cause of liver disease in adults and the most common cause of liver disease in children (Lavine and Schwimmer 2004). The abnormalities include increased liver fat without inflammation (steatosis) and nonalcoholic steatohepatitis (NASH). NASH may lead to fibrosis, cirrhosis, and ultimately liver failure if it is not treated (Matteoni et al. 1999). The objective of the study is to estimate the magnitude of the problem which will help us to formulate strategies in managing the potentially difficult problem. Materials and Methods. We included 1000 individuals between the ages of 30 and 50 years who came for annual checkup. The patients with other comorbidities like diabetes, ischemic heart disease, chronic liver disease, or renal diseases were excluded from the study. History of alcohol ingestion was also taken; any individual with history of alcohol intake was also excluded. All of them underwent investigations including CBC, LFTs, height and weight. The individuals who were found to have increased ALT (50 to 150 u/L) further underwent investigations including ultrasound of abdomen hepatitis b and c serology RA and ANA antibodies. All the individuals who were found to have viral or autoimmune illness were excluded from the study. The individuals having raised ALT levels and ultrasound evidence of fatty liver were taken. Results. 13.5% of the individuals were found to have NAFLD among those selected for the study. Conclusion. Mass campaign regarding physical and dietary measures needs to be undertaken in general masses regarding the gravity and potential prevention of the disease.

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