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Datensatz: duchenne:12166284
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FindZebra
Datensatz: duchenne:8784808
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Duchenne muscular dystrophy (DMD) is the most common form of inherited muscular dystrophy. Germline mutations in dystrophin (DMD) gene cause DMD, with a X-linked recessive mode of inheritance. Patients with DMD are usually characterized by weakness of muscle, usually started since childhood and gradually the patient will unable to stand and walk. In our present study, we identified four unrelated Chinese patients with DMD from four Chinese families. Whole exome sequencing was performed for genetic molecular analysis for these probands. Whole exome sequencing and confirmatory Sanger sequencing identified four novel nonsense mutations in these four unrelated Chinese patients, respectively. All these four mutations lead to the formation of a truncated DMD protein by formation of a premature stop codon. According to the variant interpretation guidelines of American College of Medical Genetics and Genomics (ACMG), these four novel nonsense mutations are categorized as "likely pathogenic" variants. Our present finding not only identified four novel loss-of-function mutations in dystrophin (DMD) gene but also strongly emphasized the significance of whole exome sequencing as the most efficient way of identifying the candidate genes and mutations which enables us for easy and rapid clinical diagnosis, follow-up, and management of DMD patients.
Auszug in der Originalsprache. Zhang Y, Yang W, Wen G, Wu Y, Jing Z, Li D, Tang M, Liu G, Wei X, Zhong Y, Li Y, Deng Y. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
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Datensatz: duchenne:30938079
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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Datensatz: hae:20888297
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Duchenne muscular dystrophy (DMD) is a genetic disorder associated with a progressive deficiency of dystrophin that leads to skeletal muscle degeneration. In this study, we tested the hypothesis that a co-transplantation of two stem/progenitor cell populations, namely bone marrow-derived mesenchymal stem cells (BM-MSCs) and skeletal muscle-derived stem/progenitor cells (SM-SPCs), directly into the dystrophic muscle can improve the skeletal muscle function of DMD patients. Three patients diagnosed with DMD, confirmed by the dystrophin gene mutation, were enrolled into a study approved by the local Bioethics Committee (no. 79/2015). Stem/progenitor cells collected from bone marrow and skeletal muscles of related healthy donors, based on HLA matched antigens, were expanded in a closed MC3 cell culture system. A simultaneous co‑transplantation of BM-MSCs and SM-SPCs was performed directly into the biceps brachii (two patients) and gastrocnemius (one patient). During a six‑month follow‑up, the patients were examined with electromyography (EMG) and monitored for blood kinase creatine level. Muscle biopsies were examined with histology and assessed for dystrophin at the mRNA and protein level. A panel of 27 cytokines was analysed with multiplex ELISA. We did not observe any adverse effects after the intramuscular administration of cells. The efficacy of BM‑MSC and SM‑SPC application was confirmed through an EMG assessment by an increase in motor unit parameters, especially in terms of duration, amplitude range, area, and size index. The beneficial effect of cellular therapy was confirmed by a decrease in creatine kinase levels and a normalised profile of pro-inflammatory cytokines. BM-MSCs may support the pro-regenerative potential of SM-SPCs thanks to their trophic, paracrine, and immunomodulatory activity. Both applied cell populations may fuse with degenerating skeletal muscle fibres in situ, facilitating skeletal muscle recovery. However, further studies are required t
Auszug in der Originalsprache. Klimczak A, Zimna A, Malcher A, Kozlowska U, Futoma K, Czarnota J, Kemnitz P, Bryl A, Kurpisz M. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
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Datensatz: duchenne:32365922
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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Datensatz: duchenne:6425197
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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Datensatz: fabry:1650161
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: duchenne:24577373
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: duchenne:1615933
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
We aimed to investigate the potential of 3D virtual planning of tracheostomy tube placement and 3D cannula design to prevent tracheostomy complications due to inadequate cannula position. 3D models of commercially available cannula were positioned in 3D models of the airway. In study (1), a cohort that underwent tracheostomy between 2013 and 2015 was selected (n = 26). The cannula was virtually placed in the airway in the pre-operative CT scan and its position was compared to the cannula position on post-operative CT scans. In study (2), a cohort with neuromuscular disease (n = 14) was analyzed. Virtual cannula placing was performed in CT scans and tested if problems could be anticipated. Finally (3), for a patient with Duchenne muscular dystrophy and complications of conventional tracheostomy cannula, a patient-specific cannula was 3D designed, fabricated, and placed. (1) The 3D planned and post-operative tracheostomy position differed significantly. (2) Three groups of patients were identified: (A) normal anatomy; (B) abnormal anatomy, commercially available cannula fits; and (C) abnormal anatomy, custom-made cannula, may be necessary. (3) The position of the custom-designed cannula was optimal and the trachea healed. Virtual planning of the tracheostomy did not correlate with actual cannula position. Identifying patients with abnormal airway anatomy in whom commercially available cannula cannot be optimally positioned is advantageous. Patient-specific cannula design based on 3D virtualization of the airway was beneficial in a patient with abnormal airway anatomy.
Auszug in der Originalsprache. de Kleijn BJ, Kraeima J, Wachters JE, van der Laan BFAM, Wedman J, Witjes MJH, Halmos GB. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
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Datensatz: duchenne:29177627
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba