NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death
Clinical studies on progressive familial intrahepatic cholestasis (PFIC) type 5 caused by mutations in NR1H4 are limited. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 19, 2024 Category: Internal Medicine Authors: Zhong-Die Li, Yu-Chuan Li, Jing-Zhao, Jian-She Wang and Xin-Bao Xie Tags: Research Source Type: research
Elevated serum B-cell activator factor levels predict rapid progressive interstitial lung disease in anti-melanoma differentiation associated protein 5 antibody positive dermatomyositis
Rapid progressive interstitial lung disease (RP-ILD) is the leading cause of anti-melanoma differentiation associated protein 5 antibody positive dermatomyositis (anti-MDA5+DM) related death. Elevated serum B-cel... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 19, 2024 Category: Internal Medicine Authors: Yumeng Shi, Hanxiao You, Chang Liu, Yulu Qiu, Chengyin Lv, Yujing Zhu, Lingxiao Xu, Fang Wang, Miaojia Zhang and Wenfeng Tan Tags: Research Source Type: research
Patient preferences in genetic newborn screening for rare diseases: study protocol
This study is part of the Innovative Medicine Initiative project Screen4Care which aims at shortening the diagnostic journey for RDs by accelerating diagnosis for patients living with RDs through gNBS and the use of digital technologies, such as artificial intelligence and machine learning. Our objective will be to assess expecting parent’s perspectives, attitudes and preferences regarding gNBS for RDs in Italy and Germany.
Methods and analysis
A mixed method approach will assess perspectives, attitudes and preferences of (1) expecting parents seeking genetic consultation and (2) ‘healthy’ expecting pare...
Source: BMJ Open - April 19, 2024 Category: General Medicine Authors: MARTIN, S., Angolini, E., Audi, J., Bertini, D. E., Bruno, L. P., Coulter, J., Ferlini, A., Fortunato, F., Frankova, V., Garnier, N., Grauman, A., Gross, E., Hauber, B., Hansson, M., Kirschner, J., Knieling, F., Kyosovksa, G., Ottombrino, S., Novelli, A., Tags: Open access, Genetics and genomics Source Type: research
A quantitative and qualitative analysis of patient group narratives suggests common biopsychosocial red flags of undiagnosed rare disease
The ‘diagnostic odyssey’ is a common challenge faced by patients living with rare diseases and poses a significant burden for patients, their families and carers, and the healthcare system. The diagnosis of ra... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 19, 2024 Category: Internal Medicine Authors: Mariam Al-Attar, Sondra Butterworth and Lucy McKay Tags: Research Source Type: research
Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes
PLoS One. 2024 Apr 18;19(4):e0300350. doi: 10.1371/journal.pone.0300350. eCollection 2024.ABSTRACTMonogenic diabetes is characterized as a group of diseases caused by rare variants in single genes. Like for other rare diseases, multiple genes have been linked to monogenic diabetes with different measures of pathogenicity, but the information on the genes and variants is not unified among different resources, making it challenging to process them informatically. We have developed an automated pipeline for collecting and harmonizing data on genetic variants linked to monogenic diabetes. Furthermore, we have translated varian...
Source: Genomics Proteomics ... - April 18, 2024 Category: Genetics & Stem Cells Authors: Ksenia G Kuznetsova Jakub Va šíček Dafni Skiadopoulou Janne Molnes Miriam Udler Stefan Johansson P ål Rasmus Njølstad Alisa Manning Marc Vaudel Source Type: research
Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes
PLoS One. 2024 Apr 18;19(4):e0300350. doi: 10.1371/journal.pone.0300350. eCollection 2024.ABSTRACTMonogenic diabetes is characterized as a group of diseases caused by rare variants in single genes. Like for other rare diseases, multiple genes have been linked to monogenic diabetes with different measures of pathogenicity, but the information on the genes and variants is not unified among different resources, making it challenging to process them informatically. We have developed an automated pipeline for collecting and harmonizing data on genetic variants linked to monogenic diabetes. Furthermore, we have translated varian...
Source: Genomics Proteomics ... - April 18, 2024 Category: Genetics & Stem Cells Authors: Ksenia G Kuznetsova Jakub Va šíček Dafni Skiadopoulou Janne Molnes Miriam Udler Stefan Johansson P ål Rasmus Njølstad Alisa Manning Marc Vaudel Source Type: research
'No One Is Talking About This - rare diseases in childhood
Patricia Lockwood’s 2021 novel, No One Is Talking About This, demonstrates the challenge of rare diseases in childhood through its account of a family whose baby is diagnosed with Proteus syndrome.1 Set in the USA, the book is divided into two distinct halves. The first concentrates on the social media obsession of the unnamed protagonist (the child’s aunt); in the second, the narrative focuses on the baby’s diagnosis. No One Is Talking About This is autofictional—Lockwood dedicates the book to her niece, who lived for 6 months with Proteus syndrome. Fiction can help illustrate the experiences of pa...
Source: Archives of Disease in Childhood - April 18, 2024 Category: Pediatrics Authors: Fisayo, T. Tags: Voices from literature Source Type: research
New guidelines for congenital diaphragmatic hernia: what is next?
Developing treatment guidelines for rare diseases is always a challenge, especially when the quality of care varies due to differences in the experience of treatment teams, the low annual number of patients and the presence or absence of high-level evidence. The heterogeneity of the underlying disease makes it even harder to compare results and identify best practices based on core outcome sets. Congenital diaphragmatic hernia (CDH) serves as an excellent example of such a ‘disease’. Both clinicians as well as researchers have recognised this challenge and have extensively worked on different aspects to achieve...
Source: Archives of Disease in Childhood - Fetal and Neonatal Edition - April 18, 2024 Category: Perinatology & Neonatology Authors: Tibboel, D. Tags: Editorials Source Type: research
Economic burden of patients with post-surgical chronic and transient hypoparathyroidism in the United States examined using insurance claims data
Hypoparathyroidism (HP) is a rare endocrine disease commonly caused by the removal or damage of parathyroid glands during surgery and resulting in transient (tHP) or chronic (cHP) disease. cHP is associated wi... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 18, 2024 Category: Internal Medicine Authors: Kathleen L Deering, Niccole J Larsen, Patrick Loustau, Blandine Weiss, Soraya Allas, Michael D Culler, Qing Harshaw and Deborah M. Mitchell Tags: Research Source Type: research
Correction to: Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
(Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 18, 2024 Category: Internal Medicine Authors: L. Johansen, F. O ’Hare, E. R. Shepard, L. N. Ayton, L. J. Pelentsov, L. S. Kearns and K. L. Galvin Tags: Correction Source Type: research
Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study
Pregnancy and delivery outcomes in women with Fabry disease are not well described. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 18, 2024 Category: Internal Medicine Authors: Natalja Haninger-Vacariu, Kyra Anastopoulos, Christof Aigner, Raute Sunder-Plassmann, Constantin Gatterer, Markus Ponleitner, Gere Sunder-Plassmann and Alice Schmidt Tags: Research Source Type: research
Correction: The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study
(Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 18, 2024 Category: Internal Medicine Authors: Amira Ahmed Elfituri, Manuel Joaqu ín De Nova and Mohammadamin Najirad Tags: Correction Source Type: research
Deep lymph node enlargement and renal failure caused by hypercalcemia ‑associated sarcoidosis: A case report
Exp Ther Med. 2024 Mar 27;27(5):235. doi: 10.3892/etm.2024.12524. eCollection 2024 May.ABSTRACTSarcoidosis is a rare disease that severely affects the lungs and superficial lymph nodes. In addition, this disease can also affect the skin, eyes and kidneys to varying degrees. The present report described a 32-year-old male patient who was admitted to Renmin Hospital of Wuhan University (Wuhan, China) due to joint pain in the extremities. He was diagnosed with uncorrectable hypercalcemia. A lymph node biopsy revealed the hypercalcemia to be associated with sarcoidosis, with the patient also demonstrating renal failure and lym...
Source: Experimental and Therapeutic Medicine - April 17, 2024 Category: General Medicine Authors: Zezhou Liu Zhigang Tang Jingping Yuan Ke Su Yonghong Jian Hongyan Liu Source Type: research
Primary extranodal marginal zone mucosa-associated lymphoid tissue-type B-cell lymphoma involving the dura: A case report
CONCLUSION: EMZMBCL is a rare disease that should be considered in the differential diagnosis of subdural lesions, especially when there is no history of trauma or abnormalities in the coagulation system. The patient had a favorable outcome after selecting radiotherapy as the adjuvant therapy.PMID:38628522 | PMC:PMC11021089 | DOI:10.25259/SNI_792_2023 (Source: Surgical Neurology International)
Source: Surgical Neurology International - April 17, 2024 Category: Neurosurgery Authors: Ryo Hamamoto Toshinari Kawasaki Masashi Oda Sosuke Sumiyoshi Kosuke Hayashi Tamaki Kobayashi Yoshihiko Ioroi Tatsuki Uchiyama Motohiro Takayama Masaaki Saiki Source Type: research
Rare vermian pilocytic astrocytoma with recurrent spontaneous hemorrhage in the elderly: A case report and review of literature
CONCLUSION: PA in the elderly is a rare disease with distinct histologic and genetic peculiarities. This case review showed one of the oldest cases of cerebellar vermian PA presenting with recurrent spontaneous intratumoral hemorrhage, an extremely rare occurrence in benign glioma. Although complete surgical excision is recommended, partial resection is advocated for morbidly adherent tumors. Overall prognosis is worse in elderly PA.PMID:38628526 | PMC:PMC11021065 | DOI:10.25259/SNI_978_2023 (Source: Surgical Neurology International)
Source: Surgical Neurology International - April 17, 2024 Category: Neurosurgery Authors: Campbell Chukwuebuka Francis Kohei Kanaya Kohei Nagamine Tetsuya Goto Tetsuyoshi Horiuchi Samuel Chukwunonyerem Ohaegbulam Source Type: research
