Search results for "Rare Disease"
showing 10 items of 154 documents
The international WAO/EAACI guideline for the management of hereditary angioedema – the 2017 revision and update
2018
Hereditary Angioedema (HAE) is a rare and disabling disease. Early diagnosis and appropriate therapy are essential. This update and revision of the global guideline for HAE provides up-to-date consensus recommendations for the management of HAE. In the development of this update and revision of the guideline, an international expert panel reviewed the existing evidence and developed 20 recommendations that were discussed, finalized and consented during the guideline consensus conference in June 2016 in Vienna. The final version of this update and revision of the guideline incorporates the contributions of a board of expert reviewers and the endorsing societies. The goal of this guideline up…
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
2018
© 2018 Elsevier Inc.
The genomic landscape of the Ewing Sarcoma family of tumors reveals recurrent STAG2 mutation.
2014
The Ewing sarcoma family of tumors (EFT) is a group of highly malignant small round blue cell tumors occurring in children and young adults. We report here the largest genomic survey to date of 101 EFT (65 tumors and 36 cell lines). Using a combination of whole genome sequencing and targeted sequencing approaches, we discover that EFT has a very low mutational burden (0.15 mutations/Mb) but frequent deleterious mutations in the cohesin complex subunit STAG2 (21.5% tumors, 44.4% cell lines), homozygous deletion of CDKN2A (13.8% and 50%) and mutations of TP53 (6.2% and 71.9%). We additionally note an increased prevalence of the BRCA2 K3326X polymorphism in EFT patient samples (7.3%) compared …
Survival of European children and young adults with cancer diagnosed 1995-2002
2009
This study analyses survival in 40,392 children (age 0-14 years) and 30,187 adolescents/young adults (age 15-24 years) diagnosed with cancer between 1995 and 2002. The cases were from 83 European population-based cancer registries in 23 countries participating in EUROCARE-4. Five-year survival in countries and in regional groupings of countries was compared for all cancers combined and for major cancers. Survival for 15 rare cancers in children was also analysed. Five-year survival for all cancers combined was 81% in children and 87% in adolescents/young adults. Between-country survival differences narrowed for both children and adolescents/young adults. Relative risk of death reduced signi…
Isolated RV diverticulum: diagnosis by cardiac magnetic resonance and 3D TEE
2014
A 16-year-old male was referred to our hospital because of exertional chest pain. There was no personal or family history of any cardiovascular disease. Findings on physical examination and vital signs were normal. An ECG showed a right bundle superoanterior zonal block pattern with low potentials in frontal plane and intraventricular conduction delay (QRS Complex 120 msg) with pseudo-epsilon wave in V1 …
Solitary splenic metastasis from nasopharyngeal carcinoma: a case report and systematic review of the literature
2016
Background: Solitary splenic metastases are a rare occurrence, and the nasopharyngeal carcinoma represents one of the most uncommon primary sources. The present study aimed to describe a rare case of a solitary single splenic metastasis from nasopharyngeal carcinoma and to assess the number of cases of isolated nasopharyngeal carcinoma metastases to the spleen reported in the literature. Main body: We describe the case of a 56-year-old man with a history of nasopharyngeal carcinoma and complete remission after chemo-radiotherapy. Three months after complete remission, positron emission tomography/ computed tomography scan revealed a hypermetabolic splenic lesion without increased metabolic …
ASSOCIATION OF AN ORGAN TRANSPLANT-BASED APPROACH WITH A DRAMATIC REDUCTION IN POSTOPERATIVE COMPLICATIONS FOLLOWING RADICAL NEPHRECTOMY AND TUMOR TH…
2019
Objectives: Our aim was to determine whether using an organ transplant-based(TB) approach reduces postoperative complications(PCs) following radical nephrectomy(RN) and tumor thrombectomy(TT) in renal cell carcinoma(RCC) patients with level II-IV thrombi. Methods: A total of 390(292 non-TB/98 TB) IRCC-VT Consortium patients who received no preoperative embolization/IVC filter were included. Stepwise linear/logistic regression analyses were performed to determine significant multivariable predictors of intraoperative estimated blood loss(IEBL), number blood transfusions received, and overall/major PC development within 30days following surgery. Propensity to receive the TB approach was contr…
BCLC strategy for prognosis prediction and treatment recommendation: The 2022 update.
2022
Treatment for hepatocellular carcinoma (HCC) has experienced major advancements since the last update of the official Barcelona Clinic Liver Cancer (BCLC) prognosis and treatment strategy published in 2018. Advancements in the field have emerged in all areas, but in this manuscript, we present those that have primed a change in the strategy and comment why some encouraging data in select interventions are still considered immature and in need of further research to gain their incorporation into an evidence-based model for clinicians and researchers. Finally, we describe the critical insight and expert knowledge that is needed to take clinical decisions in individual patients so that the rec…
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
2020
International audience; PURPOSE: Lamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fate and differentiation in neurogenesis and other discrete developmental processes. The genetic alterations described so far are mainly microdeletions. The present study was aimed at increasing our understanding of LAMSHF, its clinical and genetic spectrum, and the pathophysiological mechanisms involved.METHODS: Clinical and genetic data were collected through GeneMatcher and clinical or genetic networks for 41 novel patients harboring various ty…
Therapy and prognosis of extraoral malignant melanoma metastasizing to the jaw: case report and literature review.
2009
t a d With approximately 75% of all skin cancer-related deaths, malignant melanoma (MM) is the most lethal among common skin cancers, mostly because of its disposition to early lymphogenic and hematogenic metastasis. If a MM is diagnosed early, the overall prognosis is excellent, but once metastasized it becomes an incurable disease with high mortality. Prognosis is dependent on parameters such as gender, anatomic location, level of invasion, thickness, type of primary tumor, ulceration, and number and status of regional lymphatic nodes. For incidence and mortalty, a decrease in young but an increase in older roups—with geographic differences—has been reported. Because of the embryologic or…