Objective: To investigate the dietary nutrient intake and the nutritional status of children with Duchenne muscular dystrophy (DMD), and to explore the correlation between them, so as to provide theoretical basis for the formulation of proper nutritional treatment for children with DMD.
Methods: A total of 223 children aged 2 to 14 years who came to West China Second University Hospital, Sichuan University from July 2017 to April 2021, and who were diagnosed with DMD by genetic testing were enrolled as the subjects of the study. Dietary assessment was conducted with a 3-day 24-hour dietary recall, and serum vitamin D level was measured by chemiluminescence method.
Results: Only 33.2% of the children with DMD were found to be of normal nutritional status. The incidences of stunted growth, underweight, overweight and obesity were 13.5%, 14.4%, 14.3% and 8.1%, respectively. Among the children with DMD, those with serum vitamin D deficiency and insufficiency accounted for 9.0% and 89.7%, respectively. According to the dietary recall of the children with MDM, the daily energy ratio of carbohydrate, protein and fat were (47.40±6.64)%, (14.46±2.22)%, and (38.17±5.30)%, respectively. The daily intake of dietary calcium and vitamin D were (433.32±164.39) mg per day and (155.73±89.30) IU per day, respectively. The ratio of daily protein intake to the estimated average requirement for protein ( =0.003) and ratio of daily energy intake to the estimated energy requirement ( =0.007) were lower in children with stunted growth than those of DMD children of normal nutritional status.
Conclusion: The dietary structure of children with DMD is obviously not suited to their condition and nutritional deficiency coexists with overnutrition among them. Further research needs to be done for developing appropriate nutritional guidance programs and standardized nutritional management measures for children with DMD.
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http://dx.doi.org/10.12182/20221160207 | DOI Listing |
Sleep Breath
January 2025
Division of Respiratory Medicine, Department of Pediatrics, University of California San Diego, Rady Children's Hospital, 9500 Gillman Drive, La Jolla, CA, 92093, USA.
Background: Reduced forced vital capacity (FVC) is associated with morbidity and mortality in individuals with Duchenne muscular dystrophy (DMD). Non-invasive ventilation (NIV) is often prescribed for the treatment of sleep-disordered breathing (SDB), and chronic respiratory insufficiency. Despite the common practice of initiating NIV later in the progression of DMD, the factors influencing FVC subsequent to the commencement of NIV remain unclear.
View Article and Find Full Text PDFBiomedicines
November 2024
Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45122 Essen, Germany.
: X-linked dystrophinopathies are a group of neuromuscular diseases caused by pathogenic variants in the gene (MIM *300377). Duchenne muscular dystrophy (DMD; MIM #310200) is the most common inherited muscular dystrophy. : We screened datasets of 403 male, genetically confirmed X-linked dystrophinopathy patients and identified 13 pathogenic variants of the gene that have not been described in the literature thus far.
View Article and Find Full Text PDFZhonghua Bing Li Xue Za Zhi
January 2025
Department of Pathology, the Seventh Medical Center of People's Liberation Army of China General Hospital, Beijing100700, China.
To analyze the morphologic changes and the extent of severity in end-stage heart disease; and to explore the correlation with their clinical features. Twelve cases of recipients who underwent pediatric cardiac allograft transplantation were collected from May 2022 to November 2023 at the Seventh Medical Center of People's Liberation Army of China General Hospital. Gross pathologic examinations were performed and morphological changes were observed under a light microscope after HE, Masson's trichrome, and reticulin staining.
View Article and Find Full Text PDFActa Med Philipp
November 2024
Division of Pediatric Pulmonology, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila.
Objective: Our study aimed to determine the clinical profile and pulmonary function of pediatric patients with Duchenne Muscular Dystrophy (DMD). We also characterized the stages of progression of the disease and determined their potential association with spirometry variables.
Methods: In this cross-sectional study, we used data obtained from a review of medical records of all pediatric patients (0-18 years old) with DMD seen in a multidisciplinary neuromuscular clinic of a tertiary government hospital from August 2018 until March 2020.
Cardiol Young
January 2025
Loma Linda Children's Hospital, Department of Pediatric Cardiology, Loma Linda, CA, USA.
Dilated cardiomyopathy is an expected manifestation and common cause of death in patients with Duchenne muscular dystrophy. We present an unusually rapid progression of cardiomyopathy in a boy with Duchenne muscular dystrophy. Expanded genetic testing revealed a contiguous Xp21 deletion involving dystrophin and XK genes, responsible for Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome, respectively, resulting in a more severe cardiac phenotype.
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