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Journal Orphanet J Rare Dis

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Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1.

Yiping Cheng, Jing Chen, Xinli Zhou, Jiangfei Yang, Yiming Ji, Chao Xu,

<h4>Background</h4>Dozens of genes are involved in 46, XY differences in sex development (DSD). Notably, about 3/4 of patients cannot make a clear etiology diagnosis and single gene variant identified cannot fully explain the clinical heterogeneity of 46, XY DSD.<h4>Materials and methods</h4>We conducted a systematic clinical analysis of a 46, XY ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):268]

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Deliberate paradigm shift in research in rare neurodevelopmental disorders.

Jennifer M Bain, Adel Ardalan, Sylvie Goldman,

Diagnosis and management of children with rare neurodevelopmental disorders (RNDDs) are complex. The COVID-19 pandemic has forced us to rethink the research activities critical to improve our understanding and treatment of RNDDs, such as creating large international registries and developing natural history studies. In this communication, we reflect on our ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):263]

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Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.

Pascal Brouillard, Matthieu J Schlögel, Nassim Homayun Sepehr, Raphaël Helaers, Angela Queisser, Elodie Fastré, Simon Boutry, Sandra Schmitz, Philippe Clapuyt, Frank Hammer, Anne Dompmartin, Annamaria Weitz-Tuoretmaa, Jussi Laranne, Louise Pasquesoone, Catheline Vilain, Laurence M Boon, Miikka Vikkula,

<h4>Background</h4>Theragnostic management, treatment according to precise pathological molecular targets, requests to unravel patients' genotypes. We used targeted next-generation sequencing (NGS) or digital droplet polymerase chain reaction (ddPCR) to screen for somatic PIK3CA mutations on DNA extracted from resected lesional tissue or lymphatic endothelial cells (LECs) isolated from lesions. Our cohort ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):267]

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Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden.

Juan González-Moreno, Aina Gaya-Barroso, Inés Losada-López, Adrián Rodríguez, Teresa Bosch-Rovira, Tomás Ripoll-Vera, Mercedes Usón, Antoni Figuerola, Cristina Descals, Carles Montalà, María Asunción Ferrer-Nadal, Eugenia Cisneros-Barroso,

<h4>Background</h4>Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a heterogeneous disease with a clinical presentation that varies according to geographical area and TTR mutation. The symptoms of Val50Met-ATTRv are mainly neuropathic and progress to complete disability and death in most untreated patients within 10 to 15 years of diagnosis. The neurological effects may ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):266]

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Outcome of L-DEP regimen for treatment of pediatric chronic active Epstein-Barr virus infection.

Honghao Ma, Liping Zhang, Ang Wei, Jun Yang, Dong Wang, Qing Zhang, Yunze Zhao, Sitong Chen, Hongyun Lian, Li Zhang, Chunju Zhou, Maoquan Qin, Zhigang Li, Tianyou Wang, Rui Zhang,

<h4>Purpose</h4>We intended to investigate the clinical features of paediatric patients with chronic active Epstein-Barr virus infection (CAEBV) and to examine the effectiveness of the L-DEP regimen before haematopoietic stem cell transplantation (HSCT).<h4>Methods</h4>A retrospective analysis was performed on 35 patients with CAEBV at Beijing Children's Hospital from January 2016 to January ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):269]

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Development and content validity of the Barth Syndrome Symptom Assessment (BTHS-SA) for adolescents and adults.

Chad Gwaltney, Jonathan Stokes, Anthony Aiudi, Iyar Mazar, Sarah Ollis, Emily Love, Alan Shields,

<h4>Background</h4>Barth Syndrome (BTHS) is a rare genetic disorder that presents as a complex of debilitating symptoms and reduced life expectancy. Well-developed, BTHS-specific assessments measuring primary signs and symptoms of BTHS are not currently available, making it difficult to evaluate treatment effects in BTHS clinical studies. The objective of this research ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):264]

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Using four decades of FDA orphan drug designations to describe trends in rare disease drug development: substantial growth seen in development of drugs for rare oncologic, neurologic, and pediatric-onset diseases.

Kathleen L Miller, Lewis J Fermaglich, Janet Maynard,

<h4>Background</h4>Orphan drug designations are a useful proxy to investigate trends in rare disease drug development. Drug developers must receive a designation before they are eligible for the economic incentives of the Orphan Drug Act in the United States. We created a database of all orphan drugs designated between 1983 and ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):265]

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Analysis of copy number variations of WNT4 gene in a Chinese population with Müllerian anomalies.

Ying Zhu, Ruyi Wang, Yun Cheng, Yang Han, Tengyan Li, Yunxia Cao, Binbin Wang,

<h4>Background</h4>To investigate the genetic contribution of copy number variations (CNVs) in Wingless-type MMTV integration site family, member 4 (WNT4), in a Chinese population with Müllerian anomalies (MA), copy number analysis of WNT4 by Multiplex ligation-dependent probe amplification (MLPA) was performed on 248 female patients. Some studies have shown that heterozygous ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):258]

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Treatment adherence in tyrosinemia type 1 patients.

Domingo González-Lamuño, Paula Sánchez-Pintos, Fernando Andrade, María L Couce, Luís Aldámiz-Echevarría,

<h4>Background</h4>While therapeutic advances have significantly improved the prognosis of patients with hereditary tyrosinemia type 1 (HT1), adherence to dietary and pharmacological treatments is essential for an optimal clinical outcome. Poor treatment adherence is well documented among patients with chronic diseases, but data from HT1 patients are scarce. This study evaluated ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):256]

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Delayed diagnosis of Peutz-Jeghers syndrome due to pathological information loss or mistake in family/personal history.

Yu-Liang Jiang, Xiao-Dong Xu, Bai-Rong Li, En-Da Yu, Zi-Ye Zhao, Hong Liu,

<h4>Objective</h4>To report Peutz-Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test.<h4>Clinical presentation and intervention</h4>PJS was suspected in 3 families with tortuous medical courses. Two of them had relatives departed due to polyposis or colon cancer ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):261]

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Correction to: Comprehensive genetic characteristics of dystrophinopathies in China.

Peipei Ma, Shu Zhang, Hao Zhang, Siying Fang, Yuru Dong, Yan Zhang, Weiwei Hao, Shiwen Wu, Yuying Zhao,

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):252]

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Differences in health care experiences between rare cancer and common cancer patients: results from a national cross-sectional survey.

Eline de Heus, Vivian Engelen, Irene Dingemans, Carol Richel, Marga Schrieks, Jan Maarten van der Zwan, Marc G Besselink, Mark I van Berge Henegouwen, Carla M L van Herpen, Saskia F A Duijts,

<h4>Background</h4>Patients with rare cancers face challenges in the diagnostic and treatment phase, and in access to clinical expertise. Since studies on health care experiences of these patients in comparison to patients with more common cancers are scarce, we aimed to explore these differences.<h4>Methods</h4>Data were cross-sectionally collected among (former) adult cancer ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):249]

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Characterization of genotype-phenotype correlation with MORC2 mutated Axonal Charcot-Marie-Tooth disease in a cohort of Chinese patients.

Xiaohui Duan, Xiaoxuan Liu, Guochun Wang, Weihong Gu, Min Xu, Ying Hao, Mingrui Dong, Qing Sun, Shaojie Sun, Yuanyuan Chen, Wei Wang, Jing Li, Yuting Zhang, Zhenhua Cao, Dongsheng Fan, Renbin Wang, Yuwei Da,

<h4>Background</h4>Charcot-Marie-Tooth (CMT) disease is an exciting field of study, with a growing number of causal genes and an expanding phenotypic spectrum. The microrchidia family CW-type zinc finger 2 gene (MORC2) was newly identified as a causative gene of CMT2Z in 2016. We aimed to describe the phenotypic-genetic spectrum of MORC2-related ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):244]

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Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype-phenotype correlations in improving risk stratification-a literature review.

Roland Stengl, Bence Ágg, Miklós Pólos, Gábor Mátyás, Gábor Szabó, Béla Merkely, Tamás Radovits, Zoltán Szabolcs, Kálmán Benke,

<h4>Background</h4>Marfan syndrome (MFS) is a genetically determined systemic connective tissue disorder, caused by a mutation in the FBN1 gene. In MFS mainly the cardiovascular, musculoskeletal and ocular systems are affected. The most dangerous manifestation of MFS is aortic dissection, which needs to be prevented by a prophylactic aortic root replacement.<h4>Main ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):245]

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Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review.

Tracey Jones-Hughes, Jo Campbell, Louise Crathorne,

<h4>Background</h4>Progressive familial intrahepatic cholestasis is a rare, heterogeneous group of liver disorders of autosomal recessive inheritance, characterised by an early onset of cholestasis with pruritus and malabsorption, which rapidly progresses, eventually culminating in liver failure. For children and their parents, PFIC is an extremely distressing disease. Significant pruritus can lead ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):255]

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RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy.

Andrea Sodi, Sandro Banfi, Francesco Testa, Michele Della Corte, Ilaria Passerini, Elisabetta Pelo, Settimio Rossi, Francesca Simonelli, ,

<h4>Background</h4>This research aimed to establish recommendations on the clinical and genetic characteristics necessary to confirm patient eligibility for gene supplementation with voretigene neparvovec.<h4>Methods</h4>An expert steering committee comprising an interdisciplinary panel of Italian experts in the three fields of medical specialisation involved in the management of RPE65-associated inherited retinal disease (IRD) ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):257]

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The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results.

Giulia Bassanese, Tanja Wlodkowski, Aude Servais, Laurence Heidet, Dario Roccatello, Francesco Emma, Elena Levtchenko, Gema Ariceta, Justine Bacchetta, Giovambattista Capasso, Augustina Jankauskiene, Marius Miglinas, Pietro Manuel Ferraro, Giovanni Montini, Jun Oh, Stephane Decramer, Tanja Kersnik Levart, Jack Wetzels, Elisabeth Cornelissen, Olivier Devuyst, Aleksandra Zurowska, Lars Pape, Anja Buescher, Dieter Haffner, Natasa Marcun Varda, Gian Marco Ghiggeri, Giuseppe Remuzzi, Martin Konrad, Germana Longo, Detlef Bockenhauer, Atif Awan, Ilze Andersone, Jaap W Groothoff, Franz Schaefer,

<h4>Background</h4>The European Rare Kidney Disease Reference Network (ERKNet) recently established ERKReg, a Web-based registry for all patients with rare kidney diseases. The main objectives of this core registry are to generate epidemiological information, identify current patient cohort for clinical research, explore diagnostic and therapeutic management practices, and monitor treatment performance ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):251]

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Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis.

Pamela K Foreman, Andrea V Margulis, Kimberly Alexander, Renee Shediac, Brian Calingaert, Abenah Harding, Manel Pladevall-Vila, Sarah Landis,

<h4>Background</h4>Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder that results in elevated concentrations of phenylalanine (Phe) in the blood. If left untreated, the accumulation of Phe can result in profound neurocognitive disability. The objective of this systematic literature review and meta-analysis was to estimate the global birth prevalence of ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):253]

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Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature.

Johann Philipp Zöllner, Janina Grau, Felix Rosenow, Matthias Sauter, Markus Knuf, Gerhard Kurlemann, Thomas Mayer, Christoph Hertzberg, Astrid Bertsche, Ilka Immisch, Karl Martin Klein, Susanne Knake, Klaus Marquard, Sascha Meyer, Anna H Noda, Felix von Podewils, Hannah Schäfer, Charlotte Thiels, Laurent M Willems, Bianca Zukunft, Susanne Schubert-Bast, Adam Strzelczyk,

<h4>Background</h4>Tuberous sclerosis complex (TSC) is a monogenetic, multisystem disorder characterized by benign growths due to TSC1 or TSC2 mutations. This German multicenter study estimated the costs and related cost drivers associated with organ manifestations in adults with TSC.<h4>Methods</h4>A validated, three-month, retrospective questionnaire assessed the sociodemographic and clinical characteristics, organ manifestations, ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):250]

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Correction to: Growth in ataxia telangiectasia.

Valerie A I Natale, Tim J Cole, Cynthia Rothblum-Oviatt, Jennifer Wright, Thomas O Crawford, Maureen A Lefton-Greif, Sharon A McGrath-Morrow, Haley Schlechter, Howard M Lederman,

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):248]

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Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.

Young-In Chi, Timothy J Stodola, Thiago M De Assuncao, Elise N Levrence, Swarnendu Tripathi, Nikita R Dsouza, Angela J Mathison, Donald G Basel, Brian F Volkman, Brian C Smith, Gwen Lomberk, Michael T Zimmermann, Raul Urrutia,

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):247]

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Correction to: Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.

Eugen Mengel, Bruno Bembi, Mireia Del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Grønborg, Bénédicte Héron, Esther M Maier, Agathe Roubertie, Saikat Santra, Anna Tylki-Szymanska, Simon Day, Tara Symonds, Stacie Hudgens, Marc C Patterson, Christina Guldberg, Linda Ingemann, Nikolaj H T Petersen, Thomas Kirkegaard, Christine Í Dali,

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):246]

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Clinical and genetic findings in patients with congenital cataract and heart diseases.

Xinru Li, Nuo Si, Zixun Song, Yaqiong Ren, Wei Xiao,

<h4>Background</h4>Congenital cataract (CC) and congenital heart disease (CHD) are significant birth defects. In clinical practice, the concurrence of CC and CHD is frequently observed in patients. Additionally, some monogenic diseases, copy number variation (CNV) syndromes, and diseases associated with intrauterine infection involve both cataract and heart defects. However, little is ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):242]

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Sirolimus in the treatment of kaposiform lymphangiomatosis.

Jiangyuan Zhou, Kaiying Yang, Siyuan Chen, Yi Ji,

<h4>Background</h4>Kaposiform lymphangiomatosis (KLA), which is a new subtype of generalized lymphatic anomaly, is a rare disease with a poor prognosis. Currently, there is no standard treatment due to the poor understanding of KLA. Sirolimus, which is an inhibitor of mammalian target of rapamycin, has been shown to have promising potential ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):260]

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Demographics, in-hospital analysis, and prevalence of 33 rare diseases with effective treatment in Shanghai.

Xiaoshu Cai, Georgi Z Genchev, Ping He, Hui Lu, Guangjun Yu,

<h4>Background</h4>Rare diseases are ailments which impose a heavy burden on individual patients and global society as a whole. The rare disease management landscape is not a smooth one-a rare disease is quite often hard to diagnose, treat, and investigate. In China, the country's rapid economic rise and development has brought ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2021, 16(1):262]

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