Fallbibliothek

Publizierte Fallberichte und weitere Publikationen aus FindZebra und PMOA-TTS mit überprüfter Zuordnung zur Originalquelle. Die Einträge zählen Publikationen und Datensätze, keine einzelnen Patientinnen und Patienten.„Publikationszuordnung geprüft“ bedeutet einen Abgleich bibliografischer Angaben. Es ist keine medizinische Prüfung der Aussagen oder Behandlungsempfehlung.Ungeklärte Zuordnungen und Einträge mit Korrekturhinweisen sind hier ausgeblendet. Originaltexte erscheinen nur bei dokumentierter Wiederverwendungslizenz; andere Treffer führen zur Publikation.

13 angezeigte Datensätze · Seite 1 · Publikationszuordnung geprüft. Dieselbe Publikation kann in beiden Sammlungen vorkommen.

A Rare Case of Dulaglutide-Associated Angioedema in a Male Patient. ↗FindZebra · Publikationszuordnung geprüft · 2021-11-30PMID 34987924 · PMC8717822 · DOI 10.7759/cureus.20041Publikationstyp: Journal Article, Case Reports, case-report

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Dulaglutide is an injectable glucagon-like peptide-1 receptor agonist approved for the treatment of adults with type 2 diabetes. Angioedema is defined as self-limiting edema, localized in the deeper layers of the skin and mucosa. Angioedema can be hereditary or acquired which can be allergic due to reactions to foods, insect bites and stings, and latex, drug-induced, caused by physical stimuli and associated with lupus erythematosus and hypereosinophilia. Angioedema represents a rare adverse event of glucagon-like peptide-1 receptor agonists. The only glucagon-like peptide-1 receptor agonist that has been mentioned to induce angioedema in literature is exenatide. We report the first case of dulaglutide-associated angioedema in a 72-year-old male in order to point out to the clinicians this potential rare side effect of this drug and its clinical significance.

Auszug in der Originalsprache. Karakousis N, Kostakopoulos NA, Georgakopoulou VE, Pyrgioti EE, Georgakopoulos PN. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.

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Datensatz: hae:34987924
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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C1 inhibitor deficiency in a patient with rheumatoid arthritis--increased risk of adverse effects of penicillamine? ↗FindZebra · Publikationszuordnung geprüft · 1996-02-01PMID 8882051Publikationstyp: Research Support, Non-U.S. Gov't, Journal Article, Case Reports

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Datensatz: hae:8882051
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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Co-Transplantation of Bone Marrow-MSCs and Myogenic Stem/Progenitor Cells from Adult Donors Improves Muscle Function of Patients with Duchenne Muscular Dystrophy. ↗FindZebra · Publikationszuordnung geprüft · 2020-04-30PMID 32365922 · PMC7290387 · DOI 10.3390/cells9051119Publikationstyp: Research Support, Non-U.S. Gov't, Journal Article, Case Reports, case-report

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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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Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment. ↗FindZebra · Publikationszuordnung geprüft · 2013-02-21PMID 23430813 · PMC3755564 · DOI 10.1007/8904_2013_214Publikationstyp: Journal Article, case-report

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Datensatz: gaucher:23430813
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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Enzyme therapy in Fabry disease: severe adverse events associated with anti-agalsidase cross-reactive IgG antibodies. ↗FindZebra · Publikationszuordnung geprüft · 2009-11-01PMID 19917001 · PMC2791983 · DOI 10.1111/j.1365-2125.2009.03501.xPublikationstyp: research-article, Journal Article, Case Reports

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Datensatz: fabry:19917001
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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In the midst of a dangerous intersection with unclear therapeutic strategies: a challenging case of severe aortic stenosis. ↗FindZebra · Publikationszuordnung geprüft · 2020-06-01PMID 32487051 · PMC7268312 · DOI 10.1186/s12872-020-01533-xPublikationstyp: Journal Article, Case Reports, case-report

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One out of seven patients with severe aortic stenosis (AS) undergoing transcatheter aortic valve replacement (TAVR) may be affected by transthyretin cardiac amyloidosis (ATTR-CA), mostly presenting with low-flow low-gradient AS with mildly reduced ejection fraction. The complex interaction of these two pathologies poses specific diagnostic and management challenges. The prognostic implications of this clinical intersection are not defined yet. Moreover, whether TAVR may have a prognostic benefit in ATTR-CA patients with symptomatic severe AS remains unclear, posing doubts on the best management strategy in this increasingly recognized subset of patients. We present a case of an 87-year old man with low-flow low-gradient severe AS, for whom a diagnosis of ATTR-CA was suspected based on clinical and echocardiographic criteria specific to coexisting AS and ATTR-CA. The diagnosis was eventually confirmed by positive bone tracer scintigraphy imaging. Following in-depth Heart team discussion, integrating frailty and prognostic information from combined cardiomyopathy states, a decision was made to manage the patient's severe AS conservatively. In the presented case, we deemed the natural history of ATTR-CA amyloidosis to negatively affect both the patient' prognosis and procedural risk, adversing TAVR indication despite symptomatic severe AS. No clear evidence is currently available to guide decision making in this setting, advocating for prospective studies to clarify if TAVR may have a prognostic benefit in ATTR-CA - and which ATTR-CA - patients.

Auszug in der Originalsprache. Gallone G, Landra F, D'Ascenzo F, Conrotto F, Casoni R, Bruno F, Omedè P, Alunni G, Andreis A, Vairo A, Giorgi M, Fava A, De Ferrari GM. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.

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Datensatz: fac:32487051
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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Laparoscopic gynecological surgery in an adult woman with Becker muscular dystrophy performed with sevoflurane with cisatracurium anesthesia: A case report. ↗FindZebra · Publikationszuordnung geprüft · 2020-04-01PMID 32311965 · PMC7220258 · DOI 10.1097/md.0000000000019733Publikationstyp: Journal Article, Case Reports, case-report

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Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) are progressive neuromuscular disorders caused by mutations in the dystrophin gene. The management of anesthesia in patients with BMD is complicated because they are highly sensitive to the conventional anesthetics such as volatile anesthetics and muscle relaxants. It is reported that anesthesia in patients with DMD is associated with several complications. However, a few case reports have been published on adult patients with BMD undergoing surgery with general anesthesia. Reports indicate that children with BMD may experience some serious complications with flurane-inhaled anesthesia. However, no study has yet shown that the use of flurane-induced anesthesia in adults with DMD carries high risks. We describe a 56-year-old woman with BMD who was scheduled for laparoscopic hysterectomy and bilateral adnexectomy under general anesthesia due to a mass in the uterus. The patient was diagnosed with BMD 20 years back and reported that during this period, she was able to walk slowly with help during her daily life. Additionally, she also had a history of hypertension since 4 years and type 2 diabetes mellitus since 2 years. The patient was postmenopausal and presented with abnormal uterine bleeding and elevated CA125. Abdominal ultrasonography revealed diffuse enlargement of the uterus and hypoechoic internal echoes. These findings were suggestive of diffuse adenomyosis with multiple uterine leiomyomas, which would have adverse effects later in her life. Therefore, the patient required surgery to address the symptoms and further confirm the diagnosis. The final diagnosis was confirmed by histopathological analysis. The patient was scheduled for laparoscopic hysterectomy and bilateral adnexectomy. Anesthesia was induced and maintained by a combination of intravenous and inhalation anesthetic agents, particularly cisatracurium besilate and inhaled. sevoflurane. The duration of anesthesia and postoperative

Auszug in der Originalsprache. Zhou SY, Wang D, Liu C, Zhang S, Shan BL, Ma HC. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.

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Datensatz: duchenne:32311965
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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Preliminary Evidences of Safety and Efficacy of Flavonoids- and Omega 3-Based Compound for Muscular Dystrophies Treatment: A Randomized Double-Blind Placebo Controlled Pilot Clinical Trial. ↗FindZebra · Publikationszuordnung geprüft · 2019-07-23PMID 31396142 · PMC6664031 · DOI 10.3389/fneur.2019.00755Publikationstyp: Journal Article, Case Reports, case-report

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Background: Nutritional compounds can exert both anti-inflammatory and anti-oxidant effects. Since these events exacerbate the pathophysiology of muscular dystrophies, we investigated nutraceutical supplementation as an adjuvant therapy in dystrophic patients, to low costs and easy route of administration. Moreover, this treatment could represent an alternative therapeutic strategy for dystrophic patients who do not respond to corticosteroid treatment. Objective: A 24 weeks randomized double-blind placebo-controlled clinical study was aimed at evaluating the safety and efficacy of daily oral administration of flavonoids- and omega3-based natural supplement (FLAVOMEGA) in patients affected by muscular dystrophy with recognized muscle inflammation. Design: We screened 60 patients diagnosed for Duchenne (DMD), Facioscapulohumeral (FSHD), and Limb Girdle Muscular Dystrophy (LGMD). Using a computer-generated random allocation sequence, we stratified patients in a 2:1:1 ratio (DMD:FSHD:LGMD) to one of two treatment groups: continuous FLAVOMEGA, continuous placebo. Of 29 patients included, only 24 completed the study: 15 were given FLAVOMEGA, 14 placebo. Results: FLAVOMEGA was well tolerated with no reported adverse events. Significant treatment differences in the change from baseline in 6 min walk distance (6MWD; secondary efficacy endpoint) (P = 0.033) and in isokinetic knee extension (P = 0.039) (primary efficacy endpoint) were observed in LGMD and FSHD subjects. Serum CK levels (secondary efficacy endpoint) decreased in all FLAVOMEGA treated groups with significant difference in DMD subjects (P = 0.039). Conclusions: Although the small number of patients and the wide range of disease severity among patients reduced statistical significance, we obtained an optimal profile of safety and tolerability for the compound, showing valuable data of efficacy in primary and secondary endpoints. Trial registration number: NCT03317171 Retrospectively registered 25/10/2017.

Auszug in der Originalsprache. Sitzia C, Meregalli M, Belicchi M, Farini A, Arosio M, Bestetti D, Villa C, Valenti L, Brambilla P, Torrente Y. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.

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Datensatz: duchenne:31396142
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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Solifenacin-induced acute urticaria and angioedema: a rare adverse effect. ↗FindZebra · Publikationszuordnung geprüft · 2021-01-15PMID 33452148 · DOI 10.1136/postgradmedj-2020-138375Publikationstyp: Journal Article, Case Reports

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Datensatz: hae:33452148
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report. ↗FindZebra · Publikationszuordnung geprüft · 2016-11-08PMID 27821156 · PMC5100336 · DOI 10.1186/s13256-016-1060-yPublikationstyp: Journal Article, Case Reports, case-report

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Gaucher disease is one of the most common lipid-storage disorders, affecting approximately 1 in 75,000 births. Enzyme replacement therapy with recombinant glucocerebrosidase is currently considered the first-line treatment choice for patients with symptomatic Gaucher disease type 1. Oral substrate reduction therapy is generally considered a second-line treatment option for adult patients with mild to moderate Gaucher disease type 1 who are unable or unwilling to receive lifelong intravenous enzyme infusions. The efficacy and safety of the oral substrate reduction therapy miglustat (Zavesca®) in patients with Gaucher disease type 1 have been established in both short-term clinical trials and long-term, open-label extension studies. Published data indicate that miglustat can be used as maintenance therapy in patients with stable Gaucher disease type 1 switched from previous enzyme replacement therapy. We report a case of a 44-year-old Caucasian man with Gaucher disease type 1 who was initially treated with enzyme replacement therapy but, owing to repeated cutaneous allergic reactions, had to be switched to miglustat after several attempts with enzyme replacement therapy. Despite many attempts, desensitization treatment did not result in improved toleration of imiglucerase infusions, and the patient became unwilling to continue with any intravenous enzyme replacement therapy. He subsequently agreed to switch to oral substrate reduction therapy with miglustat 100 mg twice daily titrated up to 100 mg three times daily over a short period. Long-term miglustat treatment maintained both hemoglobin and platelet levels within acceptable ranges over 8 years. The patient's spleen volume decreased, his plasma chitotriosidase levels stayed at reduced levels, and his bone mineral density findings have remained stable throughout follow-up. The patient's quality of life has remained satisfactory. Miglustat showed good gastrointestinal tolerability in this patient, and no adverse eve

Auszug in der Originalsprache. Giuffrida G, Lombardo R, Di Francesco E, Parrinello L, Di Raimondo F, Fiumara A. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.

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Datensatz: gaucher:27821156
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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Successful treatment with Cinryze® replacement therapy of a pregnant patient with hereditary angioedema: a case report. ↗FindZebra · Publikationszuordnung geprüft · 2021-01-24PMID 33485376 · PMC7827996 · DOI 10.1186/s13256-020-02622-3Publikationstyp: Journal Article, Case Reports, case-report

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Hereditary angioedema (HAE) is a rare disease characterized with recurrent swelling of subcutaneous or mucosal tissue that resolves in approximately 3 days. It can be presented with peripheral edema, abdominal and life-threatening laryngeal angioedema. A variety of triggers are known to cause episodes of angioedema including estrogen exposure. There are different reports regarding the effect of pregnancy on HAE attacks, and in some patients, the pregnancy is a recognized triggering factor. We present a female Caucasian patient with pre-existing HAE and disease exacerbations during pregnancy, requiring prophylactic use of plasma-derived C1 inhibitor concentrate. She was treated with Cinryze® replacement therapy throughout the pregnancy 1000 IU i.v. 48 times. She gave birth to a healthy male infant, via C-section. After the delivery, the patient was symptom-free for 6 months and required no treatment for HAE. In the case presented, the angioedema attacks worsened as the pregnancy progressed. The treatment with Cinryze® replacement therapy was effective and safe during pregnancy, with no adverse effects on the infant.

Auszug in der Originalsprache. Kardum Ž, Prus V, Milas Ahić J, Kardum D. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.

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Datensatz: hae:33485376
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres. ↗FindZebra · Publikationszuordnung geprüft · 2020-06-24PMID 32612933 · PMC7322173 · DOI 10.1016/j.ymgmr.2020.100618Publikationstyp: Journal Article, Case Reports, case-report

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Enzyme replacement therapy (ERT) has been shown to stabilize certain aspects of Fabry disease (FD). However, in some patients on ERT, high antibody titres have been documented, with limited clinical improvement in systemic manifestations and often with significant adverse drug reactions. We present two related adolescent males with a 4.5 kb GLA deletion, not amenable to chaperone therapy, leading to profound reduction in α-galactosidase A (α-gal A) enzyme activity. Over a 3-year period of ERT, increasing IgG antibody titres against α-gal A were noted. After starting ERT serial urine globotriaosylceramide (Gb3) measurements showed an upward trend from 333 to 2260 μg/mmol creatinine for patient 1 and 1165 to 2260 μg/mmol creatinine for patient 2. Markedly increased levels of urine and plasma globotriaosylsphingosine (Lyso-Gb3) analogues were also found. The patients experienced recurrent infusion-associated reactions necessitating premedication and prolonged infusion times. Over the 3-year period of ERT, the patients experienced continued malaise, gastrointestinal symptoms and neuropathic pain. In addition, they had increasing anxiety related to their disease and apparent lack of response to ERT which led to a decision to ultimately stop ERT. No other approved treatment options are currently available for these patients. It is possible that the rapid development of the high antidrug neutralizing antibody (ADA) titres is related to the large GLA deletion leading to virtually absent enzyme activity. It remains unclear if their symptomatology during the period of receiving ERT is related to lack of its efficacy, the rising ADA titres, or both. These two patients highlight the need for further research into the management of antidrug antibodies and additional therapeutic approaches for FD. The development of very high antidrug antibody titres in response to ERT in two related adolescent males with FD highlight the need for other therapeutic options for patients in whom ER

Auszug in der Originalsprache. Mhanni AA, Auray-Blais C, Boutin M, Johnston A, LeMoine K, Patterson J, Aerts JMFG, West ML, Rockman-Greenberg C. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.

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Datensatz: fabry:32612933
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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Thrombotic events associated with C1 esterase inhibitor products in patients with hereditary angioedema: investigation from the United States Food and Drug Administration adverse event reporting system database. ↗FindZebra · Publikationszuordnung geprüft · 2012-10-01PMID 23033229 · DOI 10.1002/j.1875-9114.2012.01126Publikationstyp: Journal Article

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Datensatz: hae:23033229
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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Datensatz: duchenne:32365922
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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