The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness
Rare diseases are estimated to affect 150 –350 million people worldwide. With advances in next generation sequencing, the number of known disease-causing genes has increased significantly, opening the door for ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 23, 2021 Category: Internal Medicine Authors: Aaron Spahr, Zaliqa Rosli, M élanie Legault, Luan T. Tran, Simon Fournier, Helia Toutounchi, Lama Darbelli, Cécile Madjar, Cassandra Lucia, Marie-Lou St-Jean, Samir Das, Alan C. Evans and Geneviève Bernard Tags: Research Source Type: research

The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis
Rare diseases (RDs) affect less than 5/10,000 people in Europe and fewer than 200,000 individuals in the United States. In rheumatology, RDs are heterogeneous and lack systemic classification. Clinical courses... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 22, 2021 Category: Internal Medicine Authors: Judith Leyens, Tim Th. A. Bender, Martin M ücke, Christiane Stieber, Dmitrij Kravchenko, Christian Dernbach and Matthias F. Seidel Tags: Research Source Type: research

A questionnaire-based study to comprehensively assess the status quo of rare disease patients and care-givers in China
There are over 16.8 million rare disease patients in China, representing a large community that should not be neglected. While the public lack the awareness of their existence and difficult status quo, for one... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 22, 2021 Category: Internal Medicine Authors: Xuefeng Li, Meiling Liu, Jinduan Lin, Bingzhe Li, Xiangyu Zhang, Shu Zhang, Zijuan Lu, Jianyong Zhang, Jincheng Zhou and Li Ou Tags: Research Source Type: research

Paradoxical low severity of COVID-19 in Prader-Willi syndrome: data from a French survey on 647 patients
Patients with Prader-Willi syndrome (PWS) often have comorbidities, especially obesity, that may constitute a risk factor for severe forms of COVID-19. We aimed to assess prevalence and medical course of SARS-... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 21, 2021 Category: Internal Medicine Authors: Muriel Coupaye, Virginie Laurier, Gr égoire Benvegnu, Christine Poitou, Pauline Faucher, Héléna Mosbah, Gwenaelle Diene, Graziella Pinto, Laura González Briceño, Christine Merrien, Ana Camarena Toyos, Emilie Montastier, Maithé Tauber and Fabien Mour Tags: Research Source Type: research

French recommendations for the management of Takayasu ’s arteritis
The aim of this National Diagnostic and Care Protocol (PNDS) is to explain to the professionals involved the current optimal diagnosis and therapeutic management and care approach for a patient with Takayasu ’s... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 21, 2021 Category: Internal Medicine Authors: David Saadoun, Alessandra Bura-Riviere, Chlo é Comarmond, Marc Lambert, Alban Redheuil and Tristan Mirault Tags: Position statement Source Type: research

A review of the clinical outcomes in idursulfase-treated and untreated Filipino patients with mucopolysaccharidosis type II: data from the local lysosomal storage disease registry
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation, caused by a deficiency of iduronate-2-sulfatase (I2S). Enzyme ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 21, 2021 Category: Internal Medicine Authors: Marie Julianne C. Racoma, Maria Kristina Karizza B. Calibag, Cynthia P. Cordero, Mary Ann R. Abacan and Mary Anne D. Chiong Tags: Research Source Type: research

Clinical features and treatment efficacy for IgG4-related thyroiditis
This study aimed to clarify the clinical features of and evaluate the treatment efficacy for IgG4-related thyroiditis. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 21, 2021 Category: Internal Medicine Authors: Xinxin Han, Panpan Zhang, Jieqiong Li, Zheng Liu, Hui Lu, Xuan Luo, Boju Pan, Xiaolan Lian, Xuejun Zeng, Wen Zhang and Xiaofeng Zeng Tags: Research Source Type: research

Correction to: A somatic mutation in PIK3CD unravels a novel candidate gene for lymphatic malformation
(Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 19, 2021 Category: Internal Medicine Authors: Shengcai Wang, Wei Wang, Xuexi Zhang, Jingang Gui, Jie Zhang, Yongli Guo, Yuanhu Liu, Lin Han, Qiaoyin Liu, Yanzhen Li, Nian Sun, Zhiyong Liu, Jiangnan Du, Jun Tai and Xin Ni Tags: Correction Source Type: research

Normative data on spontaneous stride velocity, stride length, and walking activity in a non-controlled environment
Normative data are necessary for validation of new outcome measures. Recently, the 95th centile of stride speed was qualified by the European Medicines Agency as a valid secondary outcome for clinical trials i... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 19, 2021 Category: Internal Medicine Authors: Margaux Poleur, Ana Ulinici, Aurore Daron, Olivier Schneider, Fabian Dal Farra, Marie Demonceau, M élanie Annoussamy, David Vissière, Damien Eggenspieler and Laurent Servais Tags: Research Source Type: research

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort
LAMA2-related muscular dystrophy including LAMA2-related congenital muscular dystrophy (LAMA2-CMD) and autosomal recessive limb-girdle muscular dystrophy-23 (LGMDR23) is caused by LAMA2 pathogenic variants. We ai... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 19, 2021 Category: Internal Medicine Authors: Dandan Tan, Lin Ge, Yanbin Fan, Xingzhi Chang, Shuang Wang, Cuijie Wei, Juan Ding, Aijie Liu, Shuo Wang, Xueying Li, Kai Gao, Haipo Yang, Chengli Que, Zhen Huang, Chunde Li, Ying Zhu & hellip; Tags: Research Source Type: research

Correction to: Building a trusted framework for uncertainty assessment in rare diseases: suggestions for improvement (Response to “TRUST4RD: tool for reducing uncertainties in the evidence generation for specialised treatments for rare diseases”)
(Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 19, 2021 Category: Internal Medicine Authors: Sabine E. Grimm, Xavier Pouwels, Bram L. T. Ramaekers, Ben Wijnen, Saskia Knies, Janneke Grutters and Manuela A. Joore Tags: Correction Source Type: research

A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity
Developmental and epileptic encephalopathies (DEE) are chronic neurological conditions where epileptic activity contributes to the progressive disruption of brain function, frequently leading to impaired motor... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 17, 2021 Category: Internal Medicine Authors: Marwa Ben Jdila, C écile Mignon-Ravix, Sihem Ben Ncir, Fatma Kammoun, Faiza Fakhfakh, Laurent Villard and Chahnez Triki Tags: Research Source Type: research

The parental perspective of thalassaemia in Bangladesh: lack of knowledge, regret, and barriers
Thalassaemia, a hereditary haemoglobin disorder, is a major public health concern in some parts of the world. Although Bangladesh is in the world ’s thalassaemia belt, the information on this disease is scarce.... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 16, 2021 Category: Internal Medicine Authors: Mohammad Sorowar Hossain, Md. Mahbub Hasan, Mary Petrou, Paul Telfer and Abdullah Al Mosabbir Tags: Research Source Type: research

Gene therapies and COVID-19 vaccines: a necessary discussion in relation with viral vector-based approaches
The COVID-19 pandemic is adding an unanticipated concern for those affected by genetic diseases. Most of the new treatment achievements for these patients are made possible as a result of advances in viral-bas... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 16, 2021 Category: Internal Medicine Authors: Angel Aledo-Serrano, Antonio Gil-Nagel, Julian Isla, Ana Mingorance, Fernando Mendez-Hermida and Ruben Hernandez-Alcoceba Tags: Letter to the Editor Source Type: research

Glaucoma in mucopolysaccharidoses
Mucopolysaccharidoses are a group of lysosomal storage disorders that are caused by deficiency of enzymes involved in glycosaminoglycans degradation. Due to low prevalence and high childhood mortality, researc... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 15, 2021 Category: Internal Medicine Authors: Weijing Kong, Jing Zhang, Cheng Lu, Yingxue Ding and Yan Meng Tags: Review Source Type: research

Navigating the U.S. health insurance landscape for children with rare diseases: a qualitative study of parents ’ experiences
Parents of children with rare diseases often face uncertainty about diagnosis, treatment, and costs associated with healthcare for their child. Health insurance status impacts each of these areas, but no U.S. ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 15, 2021 Category: Internal Medicine Authors: Tai L. S. Pasquini, Sarah L. Goff and Jennifer M. Whitehill Tags: Research Source Type: research

Haploidentical haematopoietic stem cell transplantation for malignant infantile osteopetrosis and intermediate osteopetrosis: a retrospective analysis of a single centre
To evaluate the clinical efficacy of haploidentical haematopoietic stem cell transplantation (haplo-HSCT) for the treatment of malignant infantile osteopetrosis (MIOP) and intermediate osteopetrosis. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 15, 2021 Category: Internal Medicine Authors: Guanghua Zhu, Ang Wei, Bin Wang, Jun Yang, Yan Yan, Kai Wang, Chenguang Jia, Yanhui Luo, Sidan Li, Xuan Zhou, Tianyou Wang, Huyong Zheng and Maoquan Qin Tags: Research Source Type: research

Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group
Treatments are often unavailable for rare disease patients, especially in low-and-middle-income countries. Reasons for this include lack of financial support for therapies and onerous regulatory requirements f... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 13, 2021 Category: Internal Medicine Authors: William A. Gahl, Durhane Wong-Rieger, Virginie Hivert, Rachel Yang, Galliano Zanello and Stephen Groft Tags: Research Source Type: research

Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome
The growing use of Electronic Health Records (EHRs) is promoting the application of data mining in health-care. A promising use of big data in this field is to develop models to support early diagnosis and to ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 13, 2021 Category: Internal Medicine Authors: Tommaso Lo Barco, Mathieu Kuchenbuch, Nicolas Garcelon, Antoine Neuraz and Rima Nabbout Tags: Research Source Type: research

The long and winding road: perspectives of people and parents of children with mitochondrial conditions negotiating management after diagnosis
The diagnostic odyssey for people with a rare disease is well known, but difficulties do not stop at diagnosis. Here we investigate the experience of people, or parents of children with a diagnosed mitochondri... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 13, 2021 Category: Internal Medicine Authors: Janet C. Long, Stephanie Best, Sarah Hatem, Tahlia Theodorou, Toni Catton, Sean Murray, Jeffrey Braithwaite and John Christodoulou Tags: Research Source Type: research

Clinical, molecular and glycophenotype insights in SLC39A8-CDG
SLC39A8, a gene located on chromosome 4q24, encodes for the manganese (Mn) transporter ZIP8 and its detrimental variants cause a type 2 congenital disorder of glycosylation (CDG). The common SLC39A8 missense vari... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 10, 2021 Category: Internal Medicine Authors: Eleonora Bonaventura, Rita Barone, Luisa Sturiale, Rosa Pasquariello, Maria Grazia Alessandr ì, Anna Maria Pinto, Alessandra Renieri, Celeste Panteghini, Barbara Garavaglia, Giovanni Cioni and Roberta Battini Tags: Research Source Type: research

Is ghrelin a biomarker of early-onset scoliosis in children with Prader –Willi syndrome?
Adolescents with idiopathic scoliosis display high ghrelin levels. As hyperghrelinemia is found in patients with PWS and early-onset scoliosis (EOS) is highly prevalent in these patients, our aims were to expl... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 8, 2021 Category: Internal Medicine Authors: Dibia Liz Pacoricona Alfaro, Gwenaelle Diene, Graziella Pinto, Jean-Pierre Salles, Isabelle Gennero, Sandy Faye, Catherine Molinas, Marion Valette, Catherine Arnaud and Maith é Tauber Tags: Research Source Type: research

A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations
PIK3CA-related disorders include vascular malformations and overgrowth of various tissues that are caused by postzygotic, somatic variants in the gene encoding phosphatidylinositol-3-kinase (PI3K) catalytic subun... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 8, 2021 Category: Internal Medicine Authors: Guillaume Canaud, Adrienne M. Hammill, Denise Adams, Miikka Vikkula and Kim M. Keppler-Noreuil Tags: Review Source Type: research

Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled crossover trial for efficacy and safety (NCY-3001)
Rare neuromuscular diseases such as spinal muscular atrophy, spinal bulbar muscular atrophy, muscular dystrophy, Charcot-Marie-Tooth disease, distal myopathy, sporadic inclusion body myositis, congenital myopa... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 7, 2021 Category: Internal Medicine Authors: Takashi Nakajima, Yoshiyuki Sankai, Shinjiro Takata, Yoko Kobayashi, Yoshihito Ando, Masanori Nakagawa, Toshio Saito, Kayoko Saito, Chiho Ishida, Akira Tamaoka, Takako Saotome, Tetsuo Ikai, Hisako Endo, Kazuhiro Ishii, Mitsuya Morita, Takashi Maeno & hell Tags: Research Source Type: research

Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata (RCDP) is an inherited ultra-rare disease which results in severely impaired physical and mental development. Mutations in one of five genes involved in plasmalogen biosynt... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 6, 2021 Category: Internal Medicine Authors: Tarik Luisman, Tara Smith, Shawn Ritchie and Karen E. Malone Tags: Research Source Type: research

Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and mino... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 6, 2021 Category: Internal Medicine Authors: Matthias Sauter, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D ’Amato, Guillaume B. d’Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiu Tags: Research Source Type: research

Novel folliculin gene mutations in Polish patients with Birt –Hogg–Dubé syndrome
Birt –Hogg–Dubé syndrome (BHDS) is a rare, autosomal dominant, inherited disease caused by mutations in the folliculin gene (FLCN). The disease is characterised by skin lesions (fibrofolliculomas, trichodiscomas, ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 6, 2021 Category: Internal Medicine Authors: El żbieta Radzikowska, Urszula Lechowicz, Jolanta Winek and Lucyna Opoka Tags: Research Source Type: research

Integrated in silico MS-based phosphoproteomics and network enrichment analysis of RASopathy proteins
RASopathies are a group of syndromes showing clinical overlap caused by mutations in genes affecting the RAS-MAPK pathway. Consequent disruption on cellular signaling leads and is driven by phosphoproteome rem... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 6, 2021 Category: Internal Medicine Authors: Javier-Fernando Montero-Bull ón, Óscar González-Velasco, María Isidoro-García and Jesus Lacal Tags: Research Source Type: research

Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety
No curative therapy for mitochondrial disease (MD) exists, prioritizing supportive treatment for symptom relief. In animal and cell models ketones decrease oxidative stress, increase antioxidants and scavenge ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 3, 2021 Category: Internal Medicine Authors: Heidi Zweers, Annemiek M. J. van Wegberg, Mirian C. H. Janssen and Saskia B. Wortmann Tags: Review Source Type: research

Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series
Autoimmune polyendocrine syndrome type 1 (APS1) is a hereditary disease caused by mutations in the AIRE gene with both endocrine and non-endocrine organ involvement. The existing data from China are limited, and ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 3, 2021 Category: Internal Medicine Authors: Ya-Bing Wang, Ou Wang, Min Nie, Yan Jiang, Mei Li, Wei-Bo Xia and Xiao-Ping Xing Tags: Research Source Type: research

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature
In this study, we identified disease-causin... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 3, 2021 Category: Internal Medicine Authors: Gilyazetdinov Kamil, Ju Young Yoon, Sukdong Yoo and Chong Kun Cheon Tags: Research Source Type: research

Quantitative parameters of lymphocyte nuclear morphology in bronchoalveolar lavage fluid as novel biomarkers for sarcoidosis
Bronchoalveolar lavage (BAL) is one of the fundamental examinations for the differential diagnosis of interstitial lung diseases (ILDs), and lymphocytosis strongly indicates alternative diagnoses rather than i... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 3, 2021 Category: Internal Medicine Authors: Yasushi Horimasu, Kakuhiro Yamaguchi, Shinjiro Sakamoto, Takeshi Masuda, Shintaro Miyamoto, Taku Nakashima, Hiroshi Iwamoto, Kazunori Fujitaka, Hironobu Hamada and Noboru Hattori Tags: Research Source Type: research

Everolimus versus sirolimus for angiomyolipoma associated with tuberous sclerosis complex: a multi-institutional retrospective study in China
To evaluate the efficacy and safety of everolimus and sirolimus in patients with tuberous sclerosis complex-associated angiomyolipomas (TSC-AML). (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 3, 2021 Category: Internal Medicine Authors: Cong Luo, Yu-Shi Zhang, Ming-Xin Zhang, Min-Feng Chen, Yuan Li, Lin Qi, Han-Zhong Li, Xiong-Bin Zu and Yi Cai Tags: Research Source Type: research

Economic burden and health-related quality of life in tenosynovial giant-cell tumour patients in Europe: an observational disease registry
This study aims to define the ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 2, 2021 Category: Internal Medicine Authors: J. Lopez-Bastida, I. Aranda-Reneo, B. Rodr íguez-Sánchez, L. M. Peña-Longobardo, X. Ye, P. Laeis, E. M. Fronk, E. Palmerini, A. Leithner and M. A. J. Van de Sande Tags: Research Source Type: research

Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD) is a rare, highly heterogeneous genetic disorder involving the impairment of motile cilia. With no single gold standard for PCD diagnosis and complicated multiorgan dysfunction... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 1, 2021 Category: Internal Medicine Authors: Xinyue Zhao, Chun Bian, Keqiang Liu, Wenshuai Xu, Yaping Liu, Xinlun Tian, Jing Bai, Kai-Feng Xu and Xue Zhang Tags: Research Source Type: research

Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum
We investigated pathogenic DYRK1B variants causative of abdominal obesity-metabolic syndrome 3 (AOMS3) in a group of patients originally diagnosed with type 2 diabetes. All DYRK1B exons were analyzed in a sample ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 30, 2021 Category: Internal Medicine Authors: Elvia C. Mendoza-Caamal, Francisco Barajas-Olmos, Elaheh Mirzaeicheshmeh, Ian Ilizaliturri-Flores, Carlos A. Aguilar-Salinas, Donaji V. G ómez-Velasco, Isabel Cicerón-Arellano, Adriana Reséndiz-Rodríguez, Angélica Martínez-Hernández, Cecilia Contre Tags: Research Source Type: research

A systematic review of moral reasons on orphan drug reimbursement
The number of market approvals of orphan medicinal products (OMPs) has been increasing steadily in the last 3 decades. While OMPs can offer a unique chance for patients suffering from rare diseases, they are u... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 30, 2021 Category: Internal Medicine Authors: Bettina M. Zimmermann, Johanna Eichinger and Matthias R. Baumgartner Tags: Review Source Type: research

Which triggers could support timely identification of primary antibody deficiency? A qualitative study using the patient perspective
Patients with predominantly (primary) antibody deficiencies (PADs) commonly develop recurrent respiratory infections which can lead to bronchiectasis, long-term morbidity and increased mortality. Recognizing s... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 29, 2021 Category: Internal Medicine Authors: Lisanne M. A. Janssen, Kim van den Akker, Mohamed A. Boussihmad and Esther de Vries Tags: Research Source Type: research

Metabolic and immunological phenotype of rare lipomatoses: Dercum ’s disease and Roch-Leri mesosomatic lipomatosis
Dercum ’s disease (DD) and Roch-Leri mesosomatic lipomatosis (LMS) are rare and poorly characterized diseases. The clinical presentation combines multiple lipomas, painful in DD in contrast with LMS, without li... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 29, 2021 Category: Internal Medicine Authors: Madleen Lemaitre, Benjamin Chevalier, Arnaud Jannin, Kristell Le Mapihan, Samuel Boury, Georges Lion, Myriam Labalette and Marie-Christine Vantyghem Tags: Research Source Type: research

Gene expression analysis in EBV-infected ataxia-telangiectasia cell lines by RNA-sequencing reveals protein synthesis defect and immune abnormalities
Epstein –Barr virus (EBV) targets B-cells where it establishes a latent infection. EBV can transform B-cells in vitro and is recognized as an oncogenic virus, especially in the setting of immune compromise. Ind... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 28, 2021 Category: Internal Medicine Authors: Moussab Tatfi, Emeline Perthame, Kenzo-Hugo Hillion, Marie-Agn ès Dillies, Hervé Menager, Olivier Hermine and Felipe Suarez Tags: Research Source Type: research

Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene
Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that results from pathogenic variants in the EFNB1 gene. The syndrome paradoxically presents with greater severity of the symptoms in heterozygous fem... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 26, 2021 Category: Internal Medicine Authors: Ewelina Bukowska-Olech, Pawe ł Gawliński, Anna Jakubiuk-Tomaszuk, Maria Jędrzejowska, Ewa Obersztyn, Michał Piechota, Marta Bielska and Aleksander Jamsheer Tags: Research Source Type: research

Factor VIII replacement prophylaxis in patients with hemophilia A transitioning to adults: a systematic literature review
Despite the advantages of prophylactic treatment for hemophilia, patients tend to discontinue or not adhere to it because of several challenges such as long-term use, high cost, young patients transitioning to... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 26, 2021 Category: Internal Medicine Authors: Jing Sun, Xuan Zhou and Nan Hu Tags: Review Source Type: research

Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease
The systematic collection of disease-specific symptoms and impacts on the lives of patients with Fabry Disease (FD) can offer unique insights into the patient experience, yet no disease-specific tool to measur... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 25, 2021 Category: Internal Medicine Authors: Alaa Hamed, Pronabesh DasMahapatra, Nicole Lyn, Chad Gwaltney and Robert J. Hopkin Tags: Research Source Type: research

Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands
We aimed to identify healthcare needs, expectations, utilization, and the experienced treatment effects in a population of Dutch patients with hereditary spastic paraplegia (HSP). (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 24, 2021 Category: Internal Medicine Authors: Hans C. J. W. Kerstens, Bas J. H. Van Lith, Maarten J. Nijkrake, Bert J. M. De Swart, Laura A. C. Van den Bemd, Rob J. E. M. Smeets, Fheodoroff Klemens, Bart P. C. Van de Warrenburg, Philip J. Van der Wees and Alexander C. H. Geurts Tags: Research Source Type: research

Causative variant profile of collagen VI-related dystrophy in Japan
Collagen VI-related dystrophy spans a clinical continuum from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy. This disease is caused by causative variants in COL6A1, COL6A2, or COL6A3. Mo... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 24, 2021 Category: Internal Medicine Authors: Michio Inoue, Yoshihiko Saito, Takahiro Yonekawa, Megumu Ogawa, Aritoshi Iida, Ichizo Nishino and Satoru Noguchi Tags: Research Source Type: research

Hemophagocytic lymphohistiocytosis during pregnancy: a review of the literature in epidemiology, pathogenesis, diagnosis and treatment
Hemophagocytic lymphohistiocytosis during pregnancy is rare; it is often misdiagnosed, resulting in a high maternal and foetal mortality rate. Herein, based on limited case reports including antepartum and pos... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 21, 2021 Category: Internal Medicine Authors: Lidong Liu, Yutong Cui, Qiongjie Zhou, Huanqiang Zhao and Xiaotian Li Tags: Review Source Type: research

Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study
Tuberous sclerosis complex (TSC), a multisystem genetic disorder, affects many organs and systems, characterized by benign growths. This German multicenter study estimated the disease-specific costs and cost-d... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 21, 2021 Category: Internal Medicine Authors: Janina Grau, Johann Philipp Z öllner, Susanne Schubert-Bast, Gerhard Kurlemann, Christoph Hertzberg, Adelheid Wiemer-Kruel, Thomas Bast, Astrid Bertsche, Ulrich Bettendorf, Barbara Fiedler, Andreas Hahn, Hans Hartmann, Frauke Hornemann, Ilka Immisch, Jul Tags: Research Source Type: research

68Ga-NOTA-Evans Blue PET/CT findings in lymphangioleiomyomatosis compared with 99mTC-ASC lymphoscintigraphy: a prospective study
The objective of this study was to inve... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 16, 2021 Category: Internal Medicine Authors: Guozhu Hou, Yuanyuan Jiang, Wenshuai Xu, Zhaohui Zhu, Li Huo, Xiaoyuan Chen, Fang Li, Kai-Feng Xu and Wuying Cheng Tags: Research Source Type: research

Reducing the diagnostic delay in Antiphospholipid Syndrome over time: a real world observation
Antiphospholipid Syndrome (APS) is a rare autoimmune disorder with an estimated prevalence of 40 –50 cases per 100.000 persons. Patients suffering from low prevalence diseases are more likely to face diagnostic... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 16, 2021 Category: Internal Medicine Authors: Massimo Radin, Silvia Grazietta Foddai, Alice Barinotti, Irene Cecchi, Elena Rubini, Savino Sciascia and Dario Roccatello Tags: Research Source Type: research

Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy
This study aims to evaluate the effectiveness and efficiency of a consanguinity... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - June 15, 2021 Category: Internal Medicine Authors: Ren-Juan Shen, Jun-Gang Wang, Yang Li and Zi-Bing Jin Tags: Research Source Type: research