Spontaneous transverse colon volvulus in a patient with Duchenne muscular dystrophy: An unreported complication

Pitrone, Pietro; Cattafi, Antonino; Magnani, Francesca; Carerj, Maria Ludovica; Bellone, Italo Giuseppe; Nirta, Giuseppe; Monsù, Enrico; Bonanno, Dora; Trimarchi, Renato; Face, Alessandro La; Marino, Maria Adele; Sofia, Carmelo

doi:10.1016/j.radcr.2022.12.062

Cited by 2 publications

(5 citation statements)

References 15 publications

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“…89,90 A recent study observed torsion of the transverse mesocolon with multiple ischemic areas and focal perforations. 19 Also acute colonic pseudo-obstruction (ACPO), a rare disorder characterized by acute dilatation of part or all of the colon/rectum in the absence of mechanical obstruction was observed in few DMD patients leading, as abovementioned, to acute respiratory failure. 91 Studies on mdx mice suggest the presence of abnormal migrating motor complexes (MMC) in the distal colon segments.…”

Section: Large Intestinementioning

confidence: 99%

“…Colon autopsy from DMD patients showed edema, fatty infiltration, fragmentation, fibrosis, and waxy degeneration of smooth muscle, resulting in atrophy and thinning of the bowel wall, 87,88 as well as recurrent pseudo‐obstruction and sigmoid volvulus 89,90 . A recent study observed torsion of the transverse mesocolon with multiple ischemic areas and focal perforations 19 . Also acute colonic pseudo‐obstruction (ACPO), a rare disorder characterized by acute dilatation of part or all of the colon/rectum in the absence of mechanical obstruction was observed in few DMD patients leading, as abovementioned, to acute respiratory failure 91 …”

Section: Gut Motility Disturbances In Dmdmentioning

confidence: 99%

“…The defective structure of smooth muscle in the gastrointestinal tract leads to several gut disorders, including constipation, 13 delayed gastric emptying, 14 and gastroesophageal reflux disease (GERD) 15 . These complications result in various symptoms, such as abdominal pain, vomiting, dysphagia, and consequential motility disorders 16‐20 . In a prospective study of 120 DMD participants, the prevalence of functional constipation according to the Questionnaire on Pediatric Gastrointestinal Symptoms was 46.7% 21 .…”

Section: Introductionmentioning

confidence: 99%

“…15 These complications result in various symptoms, such as abdominal pain, vomiting, dysphagia, and consequential motility disorders. [16][17][18][19][20] In a prospective study of 120 DMD participants, the prevalence of functional constipation according to the Questionnaire on Pediatric Gastrointestinal Symptoms was 46.7%. 21 Similarly, another study reported 21% prevalence of gastroesophageal reflux disease by using Pediatric Gastroesophageal Symptom Questionnaire (PGSQ) in a 99 DMD subject cohort.…”

Section: Introductionmentioning

confidence: 99%

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Motor dysfunction of the gut in Duchenne muscular dystrophy: A review

Subhan,

Zizzo,

Serio

2024

Neurogastroenterology Motil

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BackgroundDuchenne's muscular dystrophy (DMD) is a severe type of hereditary, neuromuscular disorder caused by a mutation in the dystrophin gene resulting in the absence or production of truncated dystrophin protein. Conventionally, clinical descriptions of the disorder focus principally on striated muscle defects; however, DMD manifestations involving gastrointestinal (GI) smooth muscle have been reported, even if not rigorously studied.PurposeThe objective of the present review is to offer a comprehensive perspective on the existing knowledge concerning GI manifestations in DMD, focusing the attention on evidence in DMD patients and mdx mice. This includes an assessment of symptomatology, etiological pathways, and potential corrective approaches. This paper could provide helpful information about DMD gastrointestinal implications that could serve as a valuable orientation for prospective research endeavors in this field. This manuscript emphasizes the effectiveness of mdx mice, a DMD animal model, in unraveling mechanistic insights and exploring the pathological alterations in the GI tract. The gastrointestinal consequences evident in patients with DMD and the mdx mice models are a significant area of focus for researchers. The exploration of this area in depth could facilitate the development of more efficient therapeutic approaches and improve the well‐being of individuals impacted by the condition.

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Section: Large Intestinementioning

confidence: 99%

Section: Gut Motility Disturbances In Dmdmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Motor dysfunction of the gut in Duchenne muscular dystrophy: A review

Subhan,

Zizzo,

Serio

2024

Neurogastroenterology Motil

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“…Duchenne muscular dystrophy is an uncommon and lethal hereditary neuromuscular disorder caused by mutations in genes encoding anti-muscle-atrophy proteins. [311][312][313][314] It has been reported that one in every 3500 to 5000 newborn male infants worldwide suffers from Duchenne muscular dystrophy. Patients with this condition have muscle cells that are unable to produce dystrophin protein, leading to symptoms such as muscle weakness, muscle atrophy, and developmental delay.…”

Section: Gene Editingmentioning

confidence: 99%

Engineered mRNA Delivery Systems for Biomedical Applications

Wang,

Zhu,

Gan

et al. 2024

Advanced Materials

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Messenger RNA (mRNA)‐based therapeutic strategies have shown remarkable promise in preventing and treating a staggering range of diseases. Optimizing the structure and delivery system of engineered mRNA has greatly improved its stability, immunogenicity, and protein expression levels, which has led to a wider range of uses for mRNA therapeutics. In this tutorial review, we first provide a thorough analysis of the optimization strategies used in the structure of mRNA and then describe delivery systems in great detail. Furthermore, we summarize the latest advancements in biomedical engineering for mRNA technology, including its applications in combatting infectious diseases, treating cancer, providing protein replacement therapy, conducting gene editing, and more. Lastly, we offer a perspective on forthcoming challenges and prospects concerning the advancement of mRNA therapeutics. Despite these challenges, mRNA‐based therapeutics remain promising, with the potential to revolutionize disease treatment and contribute to significant advancements in the biomedical field.This article is protected by copyright. All rights reserved

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Spontaneous transverse colon volvulus in a patient with Duchenne muscular dystrophy: An unreported complication

Cited by 2 publications

References 15 publications

Motor dysfunction of the gut in Duchenne muscular dystrophy: A review

Motor dysfunction of the gut in Duchenne muscular dystrophy: A review

Engineered mRNA Delivery Systems for Biomedical Applications

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