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Datensatz: duchenne:12166284
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: duchenne:12166284
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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Datensatz: hae:3777557
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
To present an occlusal splint effective for alleviating masticatory disturbance in Duchenne muscular dystrophy (DMD). A 13-year-old male DMD patient with masticatory disturbance presented with an open bite, with occlusal contact only between the first and second molars bilaterally and reduced masticatory performance. We applied an occlusal splint that achieved occlusal contact for all teeth and monitored its effects on masticatory function over 6 years. The occlusal splint increased occlusal contact points from 11 to 60. Although occlusal force remained at 13.9-16 kg, masticatory performance increased, and the number of mastication strokes increased from 124 to 169. Masseter muscle activity decreased from 76.8% to 33.4% maximum voluntary contraction (MVC) and digastric muscle activity increased from 8.7% to 18.0% MVC. Time from start of peanut mastication to swallowing decreased, and the vertical mastication cycle diameter and its width on the habitual side increased. Masticatory disturbance in a DMD patient was alleviated using an occlusal splint. The number of mastication strokes and the digastric to masseter muscle activity ratio were increased. Furthermore, the mastication cycle was enlarged, which increased masticatory movement. As masseter muscle activity during mastication decreased, the occlusal splint likely reduced muscle fatigue during masticatory movement.
Auszug in der Originalsprache. Fukumoto Y, Miyama T. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
FindZebra
Datensatz: duchenne:33826161
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
With Duchenne muscular dystrophy (DMD) being the most common and most severe type of muscular dystrophy, DMD patients are at risk for complications from general anesthesia due to impaired cardiac and respiratory functions as the pathological condition progresses. In recent years, advances in multidisciplinary treatment have improved the prognosis of DMD patients, and the number of patients requiring surgery has increased. Remimazolam is a benzodiazepine derivative similar to midazolam. Its circulatory stability and the fact that it has an antagonist make it superior to propofol.There are no reports of pediatric patients with DMD undergoing total intravenous anesthesia with remimazolam. A 4-year boy was scheduled for single-incision laparoscopic percutaneous extraperitoneal closure for inguinal hernia under general anesthesia, but the surgery was postponed because his serum creatine phosphokinase level was extremely high. He was diagnosed with DMD. According to the results of the genetic test, exon deletion of the DMD gene was detected using multiplex ligation-dependent probe amplification, although he had no symptoms of DMD except for elevated serum levels of creatine phosphokinase, etc. He was admitted for the same surgical purpose. Anesthesia was induced with 3 mg of intravenously administered remimazolam. He lost the ability to respond to verbal commands. After the intravenous administration of 100 μg of fentanyl, a continuous infusion of remifentanil (1.0 μg/kg/min) and remimazolam (15 mg/h) was started, and the endotracheal tube was inserted smoothly after the administration of 10 mg of rocuronium with which the muscle twitches disappeared in train-of-four monitoring. At the end of the surgery, 15 mg of flurbiprofen was administered intravenously. After surgery, we injected 40 mg of sugammadex to confirm a train-of-four count of 100%. Although the dose of remimazolam was reduced to 5 mg/h 30 minutes before the end of the surgery, it took 20 minutes after the di
Auszug in der Originalsprache. Horikoshi Y, Kuratani N, Tateno K, Hoshijima H, Nakamura T, Mieda T, Doi K, Nagasaka H. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
FindZebra
Datensatz: duchenne:34889305
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.
FindZebra
Datensatz: duchenne:32365922
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
In Fabry disease (alpha-galactosidase A deficiency) accumulation of Globotriaosylceramide (Gb3) leads to progressive organ failure and premature death. The introduction of enzyme replacement therapy (ERT) was the beginning of a new era in this disorder, and has prompted a broad range of research activities. This review aims to summarize recent developments and progress with high impact for Fabry disease. A Pubmed analysis was performed using the search terms "Fabry disease", "Anderson-Fabry disease", "alpha-galactosidase A" and "Gb3". Of the given publications by 31st January 2009 only original articles recently published in peer reviewed journals were included for this review. Case reports were included only when they comprised a new aspect. In addition we included relevant conference abstracts when the results had not already been published as original articles. Apart from Gb3-accumulation cellular and organ specific damages may be related also to inflammatory and immunological consequences. It will be interesting whether this may lead to new therapeutic strategies in the treatment of Fabry disease. Since newborn screening is still difficult in Fabry disease, detection of patients in populations at risk is of great importance. Undiagnosed patients with Fabry disease may still be found in cohorts of subjects with renal diseases, cardiomyopathy and TIA or stroke. Efforts should be undertaken to identify these individuals and initialise ERT in order to hault disease progression. It has also been demonstrated that Gb3-accumulation leads to pre-clinical damages and it is believed that early treatment may be the only possibility so far to prevent irreversible organ damage.
Auszug in der Originalsprache. Hoffmann B. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
FindZebra
Datensatz: fabry:19818152
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: duchenne:21927688
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: fabry:15243806
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: fac:30478886
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Cardiovascular magnetic resonance (CMR) with late gadolinium enhancement (LGE) imaging is increasingly used to assess myocardial involvement in patients with Fabry disease, an X linked lipid storage disorder. However, it is often proposed as an optional tool. A different cardiomyopathic disease progression between male and female patients was hypothesised in previous studies, as in female myocardial fibrosis was found without left ventricular (LV) hypertrophy, while myocardial fibrosis was always detected in association to LV hypertrophy in men. A male Caucasian patient, 19 years old, diagnosed through a family-based molecular screening, presented with LGE of the LV inferolateral wall evidenced at the CMR, without LV hypertrophy, or other clinical signs of the disease. This is the first report of cardiac fibrosis as the first sign of organ involvement in a male patient with Fabry disease. This finding stresses the importance of performing CMR with LGE imaging for the initial staging and monitoring of Fabry patients of both genders.
Auszug in der Originalsprache. Sechi A, Nucifora G, Piccoli G, Dardis A, Bembi B. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
FindZebra
Datensatz: fabry:25026990
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Angioedema due to acquired deficiency of C1-inhibitor (C1-INH-AAE) is a rare disease sharing some clinical and laboratory similarities with hereditary angioedema, but with late onset and no positive family history. The underlining cause may be malignant or due to autoimmune diseases, but some cases remain idiopathic. We report a case of a 75 year old woman suffering from recurrent episodes of angioedema since the age of 66, considered first induced by treatment with angiotensin-converting-enzyme inhibitors (ACEI). She continued to have angioedema attacks during 6 years after discontinuation of ACEI, until evaluation in our clinic in 2014, when C1 inhibitor esterase (C1-INH) deficiency was confirmed. The extended medical evaluation for inflammatory, allergic, autoimmune and neoplasic diseases was negative. C1-INH and complement fraction C4 plasma levels were significantly decreased at all measurements, but no diagnostic criteria for diseases known to induce C1-INH deficiency could be found. We first initiated daily prophylactic treatment with tranexamic acid, with no amelioration after 3 months. During the last and most severe attack, with the first facial and laryngeal edema, we have switched to attenuated androgen danazol. The evolution was very good, with prompt remission of angioedema and significant increase of C1-INH and C4 plasma levels after 2 weeks of daily danazol use. She completed 3 years of continuous treatment with low daily maintenance dose of danazol (ongoing), with no angioedema attack. We closely monitored C1-INH and C4 plasma levels, possible danazol side effects and any signs suggesting late onset of C1-INH deficiency causal disease. We reported a particular case of rare angioedema due to acquired deficiency of C1-inhibitor, which has no clear cause after long follow-up, but good response to attenuated androgen. We concluded that the awareness of angioedema due to C1-INH deficiency should be increased within medical community and therapeutic optio
Auszug in der Originalsprache. Leru PM, Anton VF, Bumbea H. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
FindZebra
Datensatz: hae:30386386
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Hereditary Angioedema (HAE) is a rare disease characterized by a deficiency or a reduced function of the plasma protein C1 esterase inhibitor (C1-INH), which is involved in the downregulation of several inflammatory pathways. Patients affected by HAE suffer from episodic swellings of subcutaneous or submucosal tissues. Swellings can be caused by stress or dental and surgical procedures and can be life-threatening if the airways are involved. We have reported a clinical case of a patient affected by HAE type I who underwent oral surgery procedures under a short-term prophylaxis with C1-INH plasma-derived concentrate. The patient underwent a cyst removal, multiple tooth extractions, and an excisional biopsy with a prophylaxis with C1-INH plasma-derived concentrate and was hospitalized for 36 hours after the surgery to be monitored for possible HAE attacks. During the hospitalization, the patient did not show signs of swelling nor of HAE attacks. At 14 and 28 days after the surgery, the patient presented a good surgical healing. The prophylactic intravenous infusion of C1-INH concentrate was successful in preventing acute HAE attacks after oral surgery procedures.
Auszug in der Originalsprache. Cinquini C, Santarelli S, Marianelli A, Nisi M, Gabriele M, Barone A. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
FindZebra
Datensatz: hae:35132366
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme α-galactosidase that leads to a systemic accumulation of globotriaosylceramide. Handheld in vivo reflectance confocal microscopy (HH-RCM) is a useful modern technique in diagnosis and follow-ups of many skin diseases. This noninvasive device provides high-resolution and high-contrast real-time images to study both the skin and the ocular surface structures that can help clinicians to confirm the diagnosis of FD. HH-RCM could be helpful even for the follow-ups of these patients, enabling us to monitor the effect of enzyme replacement therapy on corneal cells and keratinocytes.
Auszug in der Originalsprache. Cinotti E, Provvidenziale L, Fimiani M, Perrot JL, Cambazard F, Rubegni P. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
FindZebra
Datensatz: fabry:29954050
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Duchenne muscular dystrophy (DMD) is one of the most common and severest muscular dystrophies. Although it can be a cause of death when associated with cardiac muscle and/or respiratory muscles, no cases of sudden deaths in the setting of undiagnosed DMD with cardiac involvement have been reported in the literatures. Previous studies showed that N-terminal-proBNP (NT-proBNP) was a robust laboratory biomarker to diagnose and monitor cardiac failure in clinical situations, suggesting that it may be used as an auxiliary indicator for diagnosis on left ventricular dysfunction in sudden cardiac deaths in forensic settings. Here, we reported a case of 29-year-old man who died suddenly. Autopsy revealed that muscles of the body were almost replaced by fatty and fibrotic tissues. The heart was enlarged with disarray and degeneration of cardiomyocytes in cardiac muscle. Total absence of dystrophin was detected by immunohistochemical staining, which confirmed DMD. Postmortem biochemical test of pericardial fluid revealed a high level of NT-proBNP, indicating dysfunction of the left ventricle before death. The cause of death was certified as an early dilated cardiomyopathy (DCM)/dysfunction of the left ventricle secondary to DMD, suggesting that sudden cardiac death with cardiac dysfunction could be identified by immunohistochemical method in combination with pericardial fluid NT-proBNP determination after systemic autopsy.
Auszug in der Originalsprache. Zhang M, Zhao R, Yu T, Li J, Zhang M, Jiang S, Wang L, Zhang G, Li R, Zhu B, Guan D. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.
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Datensatz: duchenne:32939432
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
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FindZebra
Datensatz: duchenne:27942159
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba
Nur Publikationshinweis. Kein zur Wiederverwendung freigegebener Textauszug in HealthOS.
FindZebra
Datensatz: fabry:28100976
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba