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Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients.

C Daccord, V Cottin, G Prévot, Y Uzunhan, J F Mornex, P Bonniaud, R Borie, A Briault, M A Collonge-Rame, B Crestani, G Devouassoux, O Freynet, A Gondouin, P A Hauss, C Khouatra, S Leroy, S Marchand-Adam, C Marquette, D Montani, J M Naccache, G Nadeau, N Poulalhon, M Reynaud-Gaubert, M Salaun, B Wallaert, J F Cordier, M Faouzi, R Lazor, ,

BACKGROUND:Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the FLCN gene coding for folliculin. Its clinical expression includes cutaneous fibrofolliculomas, renal tumors, multiple pulmonary cysts, and recurrent spontaneous pneumothoraces. Data on lung function in BHD are scarce and it is not known whether lung function ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):120]

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Study on depressive symptoms in patients with Mayer-Rokitansky-Küster-Hauser syndrome: an analysis of 141 cases.

Na Chen, Shuang Song, Yanping Duan, Jia Kang, Shan Deng, Hongxin Pan, Lan Zhu,

BACKGROUND:Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disease characterized by uterovaginal agenesis. The diagnosis of MRKH syndrome generally leads to considerable emotional burdens on patients. However, studies focusing on the psychological influence on patients are limited and of unsatisfactory quality. The aim of this study was to investigate the prevalence ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):121]

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Prophylactic treatment of rapamycin ameliorates naturally developing and episode -induced heterotopic ossification in mice expressing human mutant ACVR1.

Hirotsugu Maekawa, Shunsuke Kawai, Megumi Nishio, Sanae Nagata, Yonghui Jin, Hiroyuki Yoshitomi, Shuichi Matsuda, Junya Toguchida,

BACKGROUND:Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal-dominant disease characterized by heterotopic ossification (HO) in soft tissues and caused by a mutation of the ACVR1A/ALK2 gene. Activin-A is a key molecule for initiating the process of HO via the activation of mTOR, while rapamycin, an mTOR inhibitor, effectively inhibits the ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):122]

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The SMA Clinical Trial Readiness Program: creation and evaluation of a program to enhance SMA trial readiness in the United States.

Ilse Peterson, Rosángel Cruz, Fatou Sarr, Ann Marie Stanley, Jill Jarecki,

Spinal muscular atrophy (SMA) is a rare neuromuscular disease with a rapidly evolving treatment landscape. To better meet the needs of trial sponsors and the patient community in the United States (US) in this evolving context, Cure SMA established a clinical trial readiness program for new and prospective SMA clinical ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):118]

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Reliability of optic disc edema area in estimating the severity of papilledema in patients with POEMS syndrome.

Ling-Shan Liu, Xiao Zhang, Hao Zhao, Xue-Min Gao, Dao-Bin Zhou, Rong-Ping Dai, Jian Li,

BACKGROUND:Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes (POEMS) syndrome is a rare paraneoplastic syndrome involving multisystem. Optic disc edema (ODE) is the most common ocular manifestation in patients with POEMS syndrome and serves as an independent prognostic factor. However, parameters previously used to estimate its severity were inconvenient and ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):116]

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Rare musculoskeletal diseases in adults: a research priority setting partnership with the James Lind Alliance.

Gerda Mickute, Kristina Staley, Heather Delaney, Oliver Gardiner, Amy Hunter, Richard Keen, Lorraine Lockhart, Nick Meade, Maria Newman, Stuart Ralston, Elaine Rush, Sheela Upadhyaya, Sandra Regan, Laura Watts, Jennifer Walsh, Paul White, Roger M Francis, M Kassim Javaid,

BACKGROUND:Osteogenesis imperfecta, fibrous dysplasia/McCune-Albright syndrome and X-linked hypophosphatemia are three rare musculoskeletal diseases characterised by bone deformities, frequent fractures and pain. Little high-quality research exists on appropriate treatment and long-term management of these conditions in adults. This is further worsened by limited research funding in rare diseases and a general ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):117]

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Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels.

Leire Casas-Fraile, Frederique M Cornelis, Domiziana Costamagna, Anabel Rico, Robin Duelen, Maurilio M Sampaolesi, Adolfo López de Munain, Rik J Lories, Amets Sáenz,

BACKGROUND:Limb-girdle muscular dystrophy recessive 1 calpain3-related (LGMDR1), previously known as LGMD2A, is a disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness and muscle degeneration. Frizzled related protein (FRZB), upregulated in LGMDR1, was identified as a key regulator of the crosstalk between Wnt and integrin ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):119]

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Gastrointestinal manifestations in Satoyoshi syndrome: a systematic review.

Julián Solís-García Del Pozo, Carlos de Cabo, Javier Solera,

BACKGROUND:Satoyoshi syndrome (SS) [OMIM 600705; ORFHA 3130] is a multisystemic disease with a probable autoimmune basis, whose main symptoms are muscle spasms, alopecia, diarrhea and skeletal alterations. Chronic diarrhea may be severe and result in malnutrition, anemia, growth retardation, cachexia, disability and even death. However, to date, no review of ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):115]

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Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS).

Karolina M Stepien, Anait K Gevorkyan, Christian J Hendriksz, Tinatin V Lobzhanidze, Jordi Pérez-López, Govind Tol, Mireia Del Toro Riera, Nato D Vashakmadze, Christina Lampe,

BACKGROUND:Mucopolysaccharidoses (MPS) are rare, inherited disorders associated with enzyme deficiencies that result in glycosaminoglycan (GAG) accumulation in multiple organ systems. Management of MPS is evolving as patients increasingly survive to adulthood and undergo multiple surgeries throughout their lives. As surgeries in these patients are considered to be high risk, this ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):114]

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Growth charts for Thai children with Prader-Willi syndrome aged 0-18 years.

Nantiya Mongkollarp, Thipwimol Tim-Aroon, Chusak Okascharoen, Khunton Wichajarn, Jeeraparn Phosuwattanakul, Nalinee Chongviriyaphan, Duangrurdee Wattanasirichaigoon,

BACKGROUND:Prader-Willi syndrome (PWS) is a multisystem genetic disorder, which has a typical eating behavior and growth pattern. In the infancy period, children with PWS have low body weight followed by hyperphagia in later childhood. Disease-specific growth charts have been recommended for monitoring PWS patients. Previous literature demonstrated growth differences among ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):111]

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Genotype characteristics and immunological indicator evaluation of 311 hemophagocytic lymphohistiocytosis cases in China.

Jia Zhang, Yuan Sun, Xiaodong Shi, Rui Zhang, Yini Wang, Juan Xiao, Jing Cao, Zhuo Gao, Jingshi Wang, Lin Wu, Wei Wei, Zhao Wang,

BACKGROUND:Primary hemophagocytic lymphohistiocytosis (pHLH) is a genetic disorder that is classically diagnosed by genetic testing. Secondary HLH (sHLH) is usually caused by infections, malignancies, or autoimmune disorders, but may display some mutations or polymorphisms. Rapid immunological assays examining natural killer (NK) cell activity, degranulation function (CD107a), and protein expression related ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):112]

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The natural history of infantile neuroaxonal dystrophy.

Fadie D Altuame, Gretchen Foskett, Paldeep S Atwal, Sarah Endemann, Mark Midei, Peter Milner, Mustafa A Salih, Muddathir Hamad, Mohammad Al-Muhaizea, Mais Hashem, Fowzan S Alkuraya,

BACKGROUND:Infantile neuroaxonal dystrophy (INAD) is a rapidly progressive neurodegenerative disorder of early onset causing premature death. It results from biallelic pathogenic variants in PLA2G6, which encodes a calcium-independent phospholipase A2. OBJECTIVE:We aim to outline the natural history of INAD and provide a comprehensive description of its clinical, radiological, laboratory, and ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):109]

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Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.

Tokunbor A Lawal, Emily S Wires, Nancy L Terry, James J Dowling, Joshua J Todd,

BACKGROUND:Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperthermia (MH) susceptibility, a life-threatening hypermetabolic condition and RYR1-related myopathies (RYR1-RM), a spectrum of rare neuromuscular disorders. In RYR1-RM, intracellular calcium dysregulation, post-translational modifications, and decreased protein expression lead to a heterogenous clinical presentation ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):113]

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Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction.

Meng Ren, Jingru Shi, Jinmeng Jia, Yongli Guo, Xin Ni, Tieliu Shi,

BACKGROUND:Berardinelli-Seip congenital lipodystrophy (BSCL) is a heterogeneous autosomal recessive disorder characterized by an almost total lack of adipose tissue in the body. Mutations in the AGPAT2, BSCL2, CAV1 and PTRF genes define I-IV subtype of BSLC respectively and clinical data indicate that new causative genes remain to be discovered. Here, ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):108]

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Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.

Michael Smith, Elizabeth Alexander, Ruta Marcinkute, Dorica Dan, Myfanwy Rawson, Siddharth Banka, Jason Gavin, Hany Mina, Con Hennessy, Florence Riccardi, Francesca Clementina Radio, Marketa Havlovicova, Matteo Cassina, Adela Chirita Emandi, Melanie Fradin, Lianne Gompertz, Ann Nordgren, Rasa Traberg, Massimiliano Rossi, Aurelién Trimouille, Rasika Sowmyalakshmi, Bruno Dallapiccola, Alessandra Renieri, Laurence Faivre, Bronwyn Kerr, Alain Verloes, Jill Clayton-Smith, Sofia Douzgou, ,

BACKGROUND:The European Reference Networks, ERNs, are virtual networks for healthcare providers across Europe to collaborate and share expertise on complex or rare diseases and conditions. As part of the ERNs, the Clinical Patient Management System, CPMS, a secure digital platform, was developed to allow and facilitate web-based, clinical consultations between ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):103]

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A scoping review and proposed workflow for multi-omic rare disease research.

Katie Kerr, Helen McAneney, Laura J Smyth, Caitlin Bailie, Shane McKee, Amy Jayne McKnight,

BACKGROUND:Patients with rare diseases face unique challenges in obtaining a diagnosis, appropriate medical care and access to support services. Whole genome and exome sequencing have increased identification of causal variants compared to single gene testing alone, with diagnostic rates of approximately 50% for inherited diseases, however integrated multi-omic analysis may ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):107]

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2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.

Sarah C Grünert, Jörn Oliver Sass,

BACKGROUND:2-methylacetoacetyl-coenzyme A thiolase deficiency (MATD; deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2/ "beta-ketothiolase") is an autosomal recessive disorder of ketone body utilization and isoleucine degradation due to mutations in ACAT1. METHODS:We performed a systematic literature search for all available clinical descriptions of patients with MATD. Two hundred forty-four patients were ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):106]

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Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement.

Alessandro Rossi, Chiara Simeoli, Mariacarolina Salerno, Rosario Ferrigno, Roberto Della Casa, Annamaria Colao, Pietro Strisciuglio, Giancarlo Parenti, Rosario Pivonello, Daniela Melis,

BACKGROUND:Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb). Glucose 6-phosphate (G6P) availability has been shown to modulate 11β-hydroxysteroid dehydrogenase type 1 (11βHSD1), an ER-bound enzyme catalyzing the local conversion of inactive ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):99]

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Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry.

Marc C Patterson, Eugen Mengel, Marie T Vanier, Patrick Moneuse, Daniel Rosenberg, Mercedes Pineda,

BACKGROUND:Niemann-Pick disease Type C (NP-C) is a rare, progressive neurodegenerative disorder characterized by progressive neurodegeneration and premature death. We report data at closure of the NPC Registry that describes the natural history, disease course and treatment experience of NP-C patients in a real-world setting. METHODS:The NPC Registry was a prospective ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):104]

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Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports.

Lena H P Vroegindeweij, Agnita J W Boon, J H Paul Wilson, Janneke G Langendonk,

BACKGROUND:Aceruloplasminemia is a rare genetic iron overload disorder, characterized by progressive neurological manifestations. The effects of iron chelation on neurological outcomes have only been described in case studies, and are inconsistent. Aggregated case reports were analyzed to help delineate the disease-modifying potential of treatment. METHODS:Data on clinical manifestations, treatment and ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):105]

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Diabetes management in Wolcott-Rallison syndrome: analysis from the German/Austrian DPV database.

Alena Welters, Thomas Meissner, Katja Konrad, Clemens Freiberg, Katharina Warncke, Sylvia Judmaier, Olga Kordonouri, Michael Wurm, Matthias Papsch, Gisela Fitzke, Silke Christina Schmidt, Sascha R Tittel, Reinhard W Holl,

BACKGROUND:Wolcott-Rallison syndrome (WRS) is characterized by permanent early-onset diabetes, skeletal dysplasia and several additional features, e.g. recurrent liver failure. This is the first multicentre approach that focuses on diabetes management in WRS. We searched the German/Austrian Diabetes-Patienten-Verlaufsdokumentation (DPV) registry and studied anthropometric characteristics, diabetes treatment, glycaemic control and occurrence of ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):100]

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Bone tissue and mineral metabolism in hereditary endocrine tumors: clinical manifestations and genetic bases.

Davide Maraghelli, Francesca Giusti, Francesca Marini, Maria Luisa Brandi,

Inherited endocrine tumors are neoplasms of endocrine cells, transmitted via autosomal dominant germinal mutations. They present in two different forms: non-syndromic (patient has a single affected endocrine organ during his/her lifetime) or syndromic forms (multiple tumors in endocrine and non-endocrine organs during his/her lifetime).In addition to their common tumoral manifestations, ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):102]

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Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases.

Nicole Lyn, Ruth Pulikottil-Jacob, Camille Rochmann, Robert Krupnick, Chad Gwaltney, Nick Stephens, Julie Kissell, Gerald F Cox, Tanya Fischer, Alaa Hamed,

BACKGROUND:The GM2 gangliosidoses (GM2), Tay-Sachs and Sandhoff diseases, are rare, autosomal recessive genetic disorders caused by mutations in the lysosomal enzyme β-hexosaminidase A (HEXA) or β-hexosaminidase B (HEXB) genes, respectively. A minority of patients have a late-onset form of disease that presents from late-childhood to adulthood and has a slowly ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):92]

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Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene.

Jing Yang, Fei Han, Qianlong Chen, Tienan Zhu, Yongqiang Zhao, Xuezhong Yu, Huadong Zhu, Jian Cao, Xiaoqing Li,

BACKGROUND:Reversible splenial lesion syndrome (RESLES) is a clinico-radiological syndrome characterized by the presence of reversible lesions specifically involving the splenium of the corpus callosum (SCC). The cause of RESLES is unknown. However, infectious-related mild encephalitis/encephalopathy (MERS) with a reversible splenial lesion remains the most common cause of reversible splenial lesions. ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):98]

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Assessing the impact of the five senses on quality of life in mucopolysaccharidoses.

Roberto Giugliani, Paul Harmatz, Shuan-Pei Lin, Maurizio Scarpa,

BACKGROUND:The mucopolysaccharidoses (MPSs) are lysosomal storage disorders associated with progressive multi-organ and skeletal abnormalities. Clinical manifestations can affect each of the five senses: hearing, vision, smell, taste, and touch. On 24-26 May 2018, 46 specialists with expertise in managing symptoms of MPS and experts specialized in evaluating and managing impairments ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):97]

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