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.

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

A Cardiac Amyloidosis Presentation: Atrial Mass Versus Thrombus. ↗FindZebra · Publikationszuordnung geprüft · 2020-12-07PMID 33425523 · PMC7785482 · DOI 10.7759/cureus.11944Publikationstyp: Journal Article, Case Reports, case-report

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Cardiac neoplasms are a rare finding of which a cardiac myxoma is the most commonly encountered. Therefore, a density identified in the left atrium commonly leads to the presumptive diagnosis of an atrial myxoma. However, other pathologies, such as atrial thrombi, can mimic in clinical presentation and appearance to a myxoma. Clinically, these pathologies may lead to obstructive symptoms such as syncope, palpitations, or sudden cardiac death. At present, echocardiography, magnetic resonance imaging, or computed tomography can be used to identify such masses, but fall short of identifying the primary cause. The management of atrial thrombi is not yet fully understood and definite recommendations have not been established. We present a case of an 87-year-old man complaining of syncopal episodes found to be secondary to an incidental intracardiac density resulting from age-related amyloidosis.

Auszug in der Originalsprache. Nanda S, Gyftopoulos A, Hardy N, Burke AP, Chow RT. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.

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Datensatz: fac:33425523
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East. ↗FindZebra · Publikationszuordnung geprüft · 2021-09-13PMID 34595143 · PMC8476401 · DOI 10.3389/fped.2021.716424Publikationstyp: Journal Article, Case Reports, case-report

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The timely and accurate genetic diagnosis of Duchenne muscular dystrophy (DMD) enables prompt initiation of disease management and genetic counseling and optimal patient care. Despite the existence of best practice guidelines for the diagnosis of DMD, implementation of these recommendations in different parts of the world is challenging. Here, we present 4 unique case studies which illustrate the different diagnostic pathways of patients with DMD in Middle Eastern countries and highlight region-specific challenges to achieving timely and accurate genetic diagnosis of DMD. A lack of disease awareness and consequential failure to recognize the signs and symptoms of DMD significantly contributed to the delayed diagnoses of these patients. Additional challenges included limited available funding for genetic testing and a lack of local specialist and genetic testing centers, causing patients and their families to travel vast distances for appointments in some countries. Earlier and more accurate genetic diagnosis of DMD in this region would allow patients to benefit from effective disease management, leading to improvements in health-related quality of life.

Auszug in der Originalsprache. Alghamdi F, Al-Tawari A, Alrohaif H, Alshuaibi W, Mansour H, Aartsma-Rus A, Mégarbané A. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.

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Datensatz: duchenne:34595143
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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Humoral Immune Response to SARS-CoV-2 Vaccination after a Booster Vaccine Dose in Two Kidney Transplant Recipients with Fabry Disease and Variable Secondary Immunosuppressive Regimens. ↗FindZebra · Publikationszuordnung geprüft · 2021-11-30PMID 34960158 · PMC8708799 · DOI 10.3390/vaccines9121412Publikationstyp: Journal Article, Case Reports, case-report

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The urgent need to fight the COVID-19 pandemic has accelerated the development of vaccines against SARS-CoV-2 and approval processes. Initial analysis of two-dose regimens with mRNA vaccines reported up to 95% efficacy against the original strain of the SARS-CoV-2 virus. Challenges arose with the appearance of new strains of the virus, and reports that solid organ transplant recipients may have reduced vaccination success rates after a two-dose mRNA vaccination regimen encouraged health authorities to recommend a booster in immunocompromised patients. Fabry disease is an X-linked inherited lysosomal disorder, which may lead to chronic end-stage renal disease. We report on two patients with advanced Fabry disease, renal graft and adjunctive immunosuppressive therapies who exhibited variable humoral vaccination-related immune responses against SARS-CoV-2 after three vaccine doses. The first patient developed mild COVID-19 infection, while the second patient did not seroconvert after three shots of an mRNA vaccine. Both cases emphasize that patients with Fabry disease and renal graft are susceptible to develop a weak response to COVID-19 vaccination and highlight the importance of maintaining barrier protection measures. Vaccination of family members should be encouraged to lower the risk of viral transmission to immunocompromised, transplanted patients, including vaccinated ones.

Auszug in der Originalsprache. Bernea L, Ailioaie OR, Benhamouda N, Tartour E, Germain DP. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.

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Datensatz: fabry:34960158
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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In Vitro Fertilization Using Luteinizing Hormone-Releasing Hormone Injections Resulted in Healthy Triplets without Increased Attack Rates in a Hereditary Angioedema Case. ↗FindZebra · Publikationszuordnung geprüft · 2018-02-13PMID 29666724 · PMC5831601 · DOI 10.1155/2018/2706751Publikationstyp: Journal Article, Case Reports, case-report

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Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) is a rare, autosomal dominant disorder. The management of pregnant patients with C1-INH-HAE is a challenge for the physician. Intravenous plasma-derived nanofiltered C1-INH (pdC1INH) is the only recommended option throughout pregnancy, postpartum, and breastfeeding period. In order to increase pregnancy rates, physicians use fertilization therapies increasing endogen levels of estrogens. Therefore, these techniques can provoke an increase in the number and severity of edema attacks in C1-INH-HAE. Our patient is a 32-year-old female, diagnosed with C1-INH-HAE type 1 since 2004. She had been taking danazol 50-200 mg/day for 9 years. Due to her pregnancy plans in 2013, danazol was discontinued. PdC1INH was prescribed regularly for prophylactic purpose. Triplet pregnancy occurred by in vitro fertilization using luteinizing hormone-releasing hormone (LHRH) injections. In our patient, LHRH injections were done four times without causing any severe attack during in vitro fertilization. Angioedema did not worsen during pregnancy and delivery due to the prophylactic use of intravenous pdC1INH in our patient. According to the attack frequency and severity, there was no difference between the three pregnancy trimesters. To our knowledge, this is the first published case of C1-INH-HAE receiving in vitro fertilization therapies without any angioedema attacks during pregnancy and delivery and eventually having healthy triplets with the prophylactic use of intravenous pdC1INH.

Auszug in der Originalsprache. Tunakan Dalgıç C, Düşünür Günsen F, Bulut G, Mete Gökmen EN, Sin AZ. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.

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Datensatz: hae:29666724
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy. ↗FindZebra · Publikationszuordnung geprüft · 2016-04-11PMID 27064303 · PMC4967266 · DOI 10.3109/03009734.2016.1158756Publikationstyp: Journal Article, Case Reports, case-report

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Background Gaucher disease (GD) is an autosomal recessive lipid storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase. The presence of central nervous system disease is a hallmark of the neuronopathic forms of GD (types 2 and 3). Intraocular lesions (e.g. corneal clouding, retinal lesions, and vitreous opacities) have been infrequently reported in GD type 3 (GD3). Moreover, there are virtually no published data on the occurrence and natural course of intraocular lesions in GD3 patients treated with enzyme replacement therapy (ERT). Case presentation We describe the case of a 26-year-old Polish male with L444P homozygous GD3 (mutation c.1448T > C in the GBA1 gene) who developed fundus lesions despite 10 years of ERT. At the age of 23 years, a spectral domain optical coherence tomography (OCT) examination was performed which disclosed the presence of discrete lesions located preretinally, intraretinally in the nerve fiber layer, and in the vitreous body. A 3-year follow-up OCT examination has not shown any significant progression of the fundus lesions. Conclusions To the best of our knowledge, this is the first published report describing the occurrence of newly identified retinal and preretinal lesions occurring during long-term ERT in GD3. We recommend that a careful ophthalmic assessment, including a dilated fundus examination, should be included as part of annual follow-up in patients with GD3. Further studies are needed to understand the nature and clinical course of these changes and whether or not these intraocular findings have any predictive value in the context of neurologic and skeletal progression in GD3.

Auszug in der Originalsprache. Sawicka-Gutaj N, Machaczka M, Kulińska-Niedziela I, Bernardczyk-Meller J, Gutaj P, Sowiński J, Ruchała M. · Lizenz: cc by. Für den vollständigen Kontext die Originalpublikation öffnen.

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Datensatz: gaucher:27064303
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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Datensatz: gaucher:27064303
Quellenstand: f262dbc3a1d234f500d9173f9ebf8d19996b03ba

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