scholarly journals Diagnosis delay of Duchenne Muscular Dystrophy

2004 ◽  
Vol 4 (2) ◽  
pp. 179-183 ◽  
Author(s):  
Alexandra Prufer de Queiroz Campos Araújo ◽  
Mariana Castro de Deco ◽  
Beatriz de Sá Klôh ◽  
Mariana Rangel da Costa ◽  
Fernanda Veiga de Góis ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Clinical Features ◽  
Medical Records ◽  
Dystrophin Gene ◽  
Final Diagnosis ◽  
University Hospital ◽  
Diagnosis Delay ◽  
Diagnosis Age

OBJECTIVES: to study the clinical features of Duchenne Muscular Dystrophy with emphasis on diagnosis delay. METHODS: an observational descriptive retrospective study was performed using medical records of patients with diagnosis of Duchenne Muscular Dystrophy given in the period from 1989 to 2000 at the neuropediatric out-patient clinic of a University Hospital. RESULTS: immunohistochemical results or deletion on the dystrophin gene confirmed the diagnosis of the 78 boys included in this study. Parents had noticed the first symptoms since the median age of two years. The final diagnosis was reached at a median age of seven. CONCLUSIONS: diagnosis age is closer to the age of ambulation loss than that of the first symptoms. There is a marked delay for the diagnosis of this disease in our setting.

Clinical features of pharyngeal cancer: a retrospective study of 258 consecutive patients

2001 ◽  
Vol 115 (2) ◽  
pp. 112-118 ◽  
Author(s):  
A. Escribano Uzcudun ◽  
P. Bravo Fernández ◽  
J. J. Sánchez ◽  
A. García Grande ◽  
I. Rabanal Retolaza ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Head And Neck ◽  
Clinical Features ◽  
Medical Records ◽  
Performance Status ◽  
Nasopharyngeal Cancer ◽  
University Hospital ◽  
Premalignant Lesions ◽  
Pharyngeal Cancer ◽  
Presenting Symptoms

Pharyngeal cancer still presents an unsatisfactory mortality (30-40 per cent in most series, with a slightly better prognosis for nasopharyngeal cancer relative to both oropharyngeal and hypophyarngeal cancers) despite advances in treatment. Therefore, it is critical to know the clinical features of pharyngeal cancer. The purpose of this study was to investigate the most relevant clinical features of pharyngeal cancer (oropharyngeal, hypopharyngeal, and nasopharyngeal) in order to improve knowledge of this malignancy with the aim of ameliorating diagnosis and treatment.The retrospective study was based on a review of medical records from 258 consecutive patients with pharyngeal cancer (oropharyngeal, hypopharyngeal and nasopharyngeal) diagnosed at La Paz University Hospital, Madrid, Spain, between January 1 1991 and and December 31 1995. Medical records were provided by the Departments of Otorhinolaryngology, Head and Neck Surgery, Radiation Oncology, and Medical Oncology.All medical records were analysed for the following clinical variables: 1) incidence, 2) sociodemographics, 3) sites (oropharynx, hypopharynx, nasopharynx) and subsites, 4) clinical and histological staging, 5) pathlogy, 6) presenting symptoms, 7) time to diagnosis, 8) patients’ general performance status at diagnosis, 9) personal cancer history and synchronous head and neck tumours, 10) premalignant lesions, and 11) paediatric cases.Our most outstanding finding was the excessively long time that elapsed between first clinical manifestation appearance and conclusive diagnosis of pharyngeal cancer (4.7 months for pharynx, 4.5 for oropharynx, 4.4 for hypopharynx and 6.5 for nasopharynx cancers). It was found that nasopharyngeal cancer was quite different from both oropharyngeal and hypopharyngeal cancers with respect to its potential aetiology, risk factors and clinical presentation. In addition it has a better prognosis.

scholarly journals Evaluating the potential of novel genetic approaches for the treatment of Duchenne muscular dystrophy

2021 ◽  
Author(s):  
Vratko Himič ◽  
Kay E. Davies
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Structural Integrity ◽  
Viral Vector ◽  
Exon Skipping ◽  
Dystrophin Gene ◽  
Pharmacological Treatments ◽  
Genetic Sequencing ◽  
Reading Frame ◽  
Target Effects

AbstractDuchenne muscular dystrophy (DMD) is an X-linked progressive muscle-wasting disorder that is caused by a lack of functional dystrophin, a cytoplasmic protein necessary for the structural integrity of muscle. As variants in the dystrophin gene lead to a disruption of the reading frame, pharmacological treatments have only limited efficacy; there is currently no effective therapy and consequently, a significant unmet clinical need for DMD. Recently, novel genetic approaches have shown real promise in treating DMD, with advancements in the efficacy and tropism of exon skipping and surrogate gene therapy. CRISPR-Cas9 has the potential to be a ‘one-hit’ curative treatment in the coming decade. The current limitations of gene editing, such as off-target effects and immunogenicity, are in fact partly constraints of the delivery method itself, and thus research focus has shifted to improving the viral vector. In order to halt the loss of ambulation, early diagnosis and treatment will be pivotal. In an era where genetic sequencing is increasingly utilised in the clinic, genetic therapies will play a progressively central role in DMD therapy. This review delineates the relative merits of cutting-edge genetic approaches, as well as the challenges that still need to be overcome before they become clinically viable.

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 Correlation between clinical features and deletions of the gene for dystrophin in duchenne muscular dystrophy.

1991 ◽  
Vol 30 (1) ◽  
pp. 1-4 ◽  
Author(s):  
Hajime KANAZAWA ◽  
Hidetoshi TAKASHIMA ◽  
Satoshi FUJISHITA ◽  
Noritoshi SHIBUYA ◽  
Takuhisa TAMURA
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Clinical Features

scholarly journals The Interplay of Mitophagy and Inflammation in Duchenne Muscular Dystrophy

Life ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 648
Author(s):  
Andrea L. Reid ◽  
Matthew S. Alexander
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Mitochondrial Dysfunction ◽  
Disease Onset ◽  
Exon Skipping ◽  
Dystrophin Gene ◽  
Muscle Disease ◽  
Mitochondrial Morphology ◽  
Gene Therapies ◽  
Dystrophin Protein

Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disease caused by a pathogenic disruption of the DYSTROPHIN gene that results in non-functional dystrophin protein. DMD patients experience loss of ambulation, cardiac arrhythmia, metabolic syndrome, and respiratory failure. At the molecular level, the lack of dystrophin in the muscle results in myofiber death, fibrotic infiltration, and mitochondrial dysfunction. There is no cure for DMD, although dystrophin-replacement gene therapies and exon-skipping approaches are being pursued in clinical trials. Mitochondrial dysfunction is one of the first cellular changes seen in DMD myofibers, occurring prior to muscle disease onset and progresses with disease severity. This is seen by reduced mitochondrial function, abnormal mitochondrial morphology and impaired mitophagy (degradation of damaged mitochondria). Dysfunctional mitochondria release high levels of reactive oxygen species (ROS), which can activate pro-inflammatory pathways such as IL-1β and IL-6. Impaired mitophagy in DMD results in increased inflammation and further aggravates disease pathology, evidenced by increased muscle damage and increased fibrosis. This review will focus on the critical interplay between mitophagy and inflammation in Duchenne muscular dystrophy as a pathological mechanism, as well as describe both candidate and established therapeutic targets that regulate these pathways.

scholarly journals Duchenne Muscular Dystrophy - Family in a Crisis

1970 ◽  
pp. 36-39
Author(s):  
M Robed Amin ◽  
Chowdhury Chironjib Borua ◽  
Kaji Shafiqul Alam ◽  
Fazle Rabbi Chowdhury ◽  
Rabiul Jahan Sarkar ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Case Series ◽  
Dystrophin Gene ◽  
Muscle Disease ◽  
Motor Neuron Diseases ◽  
Muscle Diseases ◽  
Progressive Muscle Weakness ◽  
Recessive Disorders ◽  
Dystrophin Protein

Progressive muscular weakness with deformity leading to crippled states develop due to musculoskeletal and neurological disorders. Sometimes it is difficult to differentiate between primary muscle disease and neurological disease. But there is some classical presentation of muscle diseases which have its own entity and thus can be clinically differentiated from neurological disorder especially spinal cord and motor neuron diseases. Muscular dystrophy is one of those disorder with distinct clinical features. Muscular dystrophy refers to a group of genetic, hereditary muscle diseases that cause progressive muscle weakness. Most types of MD are multi-system disorders with manifestations in body systems including skeletal system, the heart, gastrointestinal and nervous systems, endocrine glands, skin, eyes and other organs. Duchenne muscular dystrophy (DMD), is inherited in an X-linked recessive pattern, meaning that the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes, and is thus considered sex-linked. Males are therefore affected by X-linked recessive disorders much more often than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Duchenne muscular dystrophy and Backers muscular dystrophy are caused by mutations of the gene for the dystrophin protein and lead to an overabundance of the enzyme creatine kinase. The dystrophin gene is the largest gene in humans. In this case series a family with three brothers suffering from Duchenne muscular dystrophy is described and review with literature was done.   doi:10.3329/jom.v10i3.2015 J Medicine 2009; 10 (Supplement 1): 36-39

Congestive Heart Failure With Rhabdomyolysis and Acute Renal Failure in a Manifesting Female Carrier of Duchenne Muscular Dystrophy With Duplication of Dystrophin Gene

2009 ◽  
Vol 11 (1) ◽  
pp. 49-53 ◽  
Author(s):  
Atchara Tunteeratum ◽  
Rawiphan Witoonpanich ◽  
Suchart Phudhichareonrat ◽  
Jakris Eu-ahsunthornwattana ◽  
Sarinee Pingsuthiwong ◽  
...  
Keyword(s):  
Heart Failure ◽  
Congestive Heart Failure ◽  
Renal Failure ◽  
Acute Renal Failure ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Dystrophin Gene ◽  
Female Carrier

scholarly journals Acne:Clinico-Epidemiological Study In DermatologyVenereology Outpatient Clinic Of Dr. M. Djamil Hospital Padang During January 2016 – December 2018

2020 ◽  
Vol 13 (4) ◽  
pp. 325-328
Author(s):  
Satya Wydya Yenny
Keyword(s):  
Retrospective Study ◽  
Family History ◽  
Epidemiological Study ◽  
Clinical Features ◽  
Outpatient Clinic ◽  
Medical Records ◽  
Skin Disorder ◽  
Epidemiological Data ◽  
Common Type ◽  
History Of

Although acne is usually recognized as an adolescent skin disorder, the prevalence of adults with acne is increasing. The clinical and epidemiological data of acne were evaluated with a view to establishing possible contributing etiological factors and observing whether clinical features differ from adolescent acne. Division of Dermatology and Venereology Outpatient Clinic Dr. M. Djamil hospital padang during January 2016 until December 2018.Retrospective study performed in Medical Cosmetic Division of Dermatology and Venereology Outpatient Clinic Dr. M. Djamil hospital padang during January 2016 until December 2018. Data was taken from medical records. Out of 224 patients included in the study 54.01% were women and 45.98 % were men. Majority of the patients had comedonal acne (45.53 %), whereas nodulocystic was the least common (13.39%). Most common predominant site of involvement was cheek (44.20 %), followed by chin (25.45 %), and mandibular area (14.58 %). Family history of acne was present in 57.70 %. Scarring was observed in a 39.2 %. Acne is predominant in women, with the most commonly involved of the cheeks, with the most common type was comedones type.

scholarly journals Deletion pattern in the dystrophin gene in Duchenne muscular dystrophy patients in northeast India

2013 ◽  
Vol 04 (02) ◽  
pp. 227-229 ◽  
Author(s):  
Lakshya J Basumatary ◽  
Marami Das ◽  
Munindra Goswami ◽  
Ashok K Kayal
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Dna Analysis ◽  
Hot Spot ◽  
Dystrophin Gene ◽  
Northeast India ◽  
Deletion Rate ◽  
Study Population ◽  
Deletion Pattern ◽  
Polymerase Chain

ABSTRACTDuchenne muscular dystrophy (DMD) is an X‑linked recessive disorder that affects 1 in 3,500 males and is caused by mutations in the dystrophin gene. In this paper, we have reported DNA analysis of DMD patients by multiplex polymerase chain reaction (PCR) from various states of northeast India. Of the 69 clinically suspected patients of DMD, deletion was detected by multiplex PCR in 49 (71%) patients. Majority of the deletions (42/49, 85.7%) were located at distal hot spot region that encompasses exons 44-55 and 14.3% of the deletions were located at the proximal hot spot region (exons 2-19). In this study population, the deletion rate was 71% and was more frequent in the distal end exon.

scholarly journals Degenerative and regenerative pathways underlying Duchenne muscular dystrophy revealed by single-nucleus RNA sequencing

2020 ◽  
Vol 117 (47) ◽  
pp. 29691-29701 ◽  
Author(s):  
Francesco Chemello ◽  
Zhaoning Wang ◽  
Hui Li ◽  
John R. McAnally ◽  
Ning Liu ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Dystrophin Gene ◽  
Cell Types ◽  
Muscle Pathology ◽  
Dystrophic Muscle ◽  
Nonmuscle Cell ◽  
Prevalent Disease ◽  
Single Nucleus ◽  
Muscle Disorder

Duchenne muscular dystrophy (DMD) is a fatal muscle disorder characterized by cycles of degeneration and regeneration of multinucleated myofibers and pathological activation of a variety of other muscle-associated cell types. The extent to which different nuclei within the shared cytoplasm of a myofiber may display transcriptional diversity and whether individual nuclei within a multinucleated myofiber might respond differentially to DMD pathogenesis is unknown. Similarly, the potential transcriptional diversity among nonmuscle cell types within dystrophic muscle has not been explored. Here, we describe the creation of a mouse model of DMD caused by deletion of exon 51 of the dystrophin gene, which represents a prevalent disease-causing mutation in humans. To understand the transcriptional abnormalities and heterogeneity associated with myofiber nuclei, as well as other mononucleated cell types that contribute to the muscle pathology associated with DMD, we performed single-nucleus transcriptomics of skeletal muscle of mice with dystrophin exon 51 deletion. Our results reveal distinctive and previously unrecognized myonuclear subtypes within dystrophic myofibers and uncover degenerative and regenerative transcriptional pathways underlying DMD pathogenesis. Our findings provide insights into the molecular underpinnings of DMD, controlled by the transcriptional activity of different types of muscle and nonmuscle nuclei.

Sign in / Sign up

Export Citation Format

Share Document