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Comment on Ombashi, van der Goes, Versnel, Khonsari, van der Molen: guidance to develop a multidisciplinary, international, pediatric registry: a systematic review, Orphanet Journal of Rare diseases, 2023
Recently, Ombashi et al. published a systematic review aiming to identify the pitfalls in the development and implementation as well as factors influencing long-term success of a multidisciplinary, internation... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 17, 2024 Category: Internal Medicine Authors: Kristina Klint ö and Magnus Becker Tags: Letter to the Editor Source Type: research

Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations
Individuals with rare genetic disorders face a long road to obtain a diagnosis and resulting medical care. Those who live in rural areas face even more challenges due to reduced access to testing and resources. Partnerships with rural PCPs can shorten time to diagnosis by delivering specialist-supported genomic testing and counseling. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - April 17, 2024 Category: Genetics & Stem Cells Authors: Ana S.A. Cohen, Courtney D. Berrios, Tricia N. Zion, Cassandra M. Barrett, Riley Moore, Emelia Boillat, Bradley Belden, Emily G. Farrow, Isabelle Thiffault, Britton D. Zuccarelli, Tomi Pastinen Tags: Perspective Source Type: research

Estimation of the incidence of urachal cancer: A systematic review and meta-analysis of registry-based studies
CONCLUSIONS: Our study provides an up-to-date comparison of estimated incidence rates between 6 countries of 3 continents based on rigorously selected registry-based studies. The results suggest low incidence rates for UrC with considerable geographic differences. The present meta-analysis provides unbiased registry-based data on the incidence, clinicopathological parameters and survival of UrC.PMID:38627107 | DOI:10.1016/j.urolonc.2024.03.011 (Source: Urologic Oncology)
Source: Urologic Oncology - April 16, 2024 Category: Urology & Nephrology Authors: Csilla Olah Andr ás Kubik P éter Mátrai Marie Anne Engh Vikt ória Barna P éter Hegyi Henning Reis P éter Nyirády Tibor Szarvas Source Type: research

Current Imaging Approaches in Inflammatory Breast Cancer
AbstractPurpose of ReviewInflammatory breast cancer (IBC) is a rare and aggressive type of breast cancer with a rapid clinical onset and a poor prognosis. The nonspecific clinical criteria have resulted in a difficult and delayed diagnosis of this rare disease. Radiologists ’ awareness of the appropriate imaging modalities and features of IBC can improve prompt diagnosis, accurate staging of this aggressive disease, and early detection of distant metastases.Recent FindingsDiffuse erythema and severe breast edema involving over one-third of the breast may obscure an identifiable mass on mammography and ultrasound (US) in ...
Source: Current Breast Cancer Reports - April 16, 2024 Category: Cancer & Oncology Source Type: research

Left Upper Extremity Pain, Right Coronary Artery Culprit: A Puzzling Path to Aneurysm Discovery
We report a case of an adult harboring a GCA involving the right coronary artery.PMID:38618608 | PMC:PMC11011955 | DOI:10.14797/mdcvj.1287 (Source: Methodist DeBakey Cardiovascular Journal)
Source: Methodist DeBakey Cardiovascular Journal - April 15, 2024 Category: Cardiology Authors: Moath Said Alfawara Vivek Modi Min-Fang Chao Malek Nayfeh Fares Alahdab Mahmoud Alrifai Mouaz Al-Mallah Source Type: research

When rare diseases crisscross within the same patient: von Hippel-Lindau and type 1 gastric neuroendocrine tumor
Hormones (Athens). 2024 Apr 15. doi: 10.1007/s42000-024-00556-9. Online ahead of print.ABSTRACTVon-Hippel-Lindau (VHL) is a genetic multisystem disorder characterized by visceral cysts and benign and malignant tumors in various organs. Herein, we present the case of a 23-year-old woman with VHL presenting with multiple gastric neuroendocrine neoplasms (gNENs) type 1 in the context of chronic autoimmune gastritis (CAG). Although gNENs are not acknowledged as a typical entity in VHL patients, in the present case, gNENs were composed of neoplastic cells with clear cytoplasm usually seen in tumors related to VHL disease. We ad...
Source: Hormones - April 15, 2024 Category: Endocrinology Authors: Krystallenia I Alexandraki Ariadni Spyroglou Paraskevi Xekouki Konstantinos I Bramis Georgios Kyriakopoulos Konstantinos Barkas Ioannis S Papanikolaou George Mastorakos Manousos Konstadoulakis Source Type: research

Left Upper Extremity Pain, Right Coronary Artery Culprit: A Puzzling Path to Aneurysm Discovery
We report a case of an adult harboring a GCA involving the right coronary artery.PMID:38618608 | PMC:PMC11011955 | DOI:10.14797/mdcvj.1287 (Source: Atherosclerosis)
Source: Atherosclerosis - April 15, 2024 Category: Cardiology Authors: Moath Said Alfawara Vivek Modi Min-Fang Chao Malek Nayfeh Fares Alahdab Mahmoud Alrifai Mouaz Al-Mallah Source Type: research