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Orphanet Journal of Rare Diseases

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https://www.readbyqxmd.com/read/30012160/childhood-hypophosphatasia-to-treat-or-not-to-treat
#1
REVIEW
Eric T Rush
BACKGROUND: Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dysfunction of the tissue non-specific alkaline phosphatase enzyme. Its manifestations are extremely variable, ranging from early lethality to disease limited to the dentition. The disease is life-threatening when manifesting within the first six months of life, excepting the extremely rare benign perinatal hypophosphatasia. Childhood hypophosphatasia, defined as onset of symptoms between six months and eighteen years, can manifest as rickets, pain, decreased mobility, deficits of growth, and fractures...
July 16, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30005674/emotional-processes-and-stress-in-children-affected-by-hereditary-angioedema-with-c1-inhibitor-deficiency-a-multicenter-prospective-study
#2
Livia Savarese, Maria Bova, Raffaella De Falco, Maria Domenica Guarino, Raffaele De Luca Picione, Angelica Petraroli, Riccardo Senter, Claudia Traverso, Matteo Zabotto, Andrea Zanichelli, Eugenio Zito, Maria Alessio, Mauro Cancian, Marco Cicardi, Adriana Franzese, Roberto Perricone, Gianni Marone, Paolo Valerio, Maria Francesca Freda
BACKGROUND: Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is characterized by recurrent edema of unpredictable frequency and severity. Stress, anxiety, and low mood are among the triggering factors most frequently reported. Impaired regulation and processing of emotions, also known as alexithymia, may influence outcomes. The aim of this study was to confirm the presence of alexithymia and stress in children with C1-INH-HAE, to determine whether they are also present in children affected by other chronic diseases, and to investigate their relationship with C1-INH-HAE severity...
July 13, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29996871/transcriptome-level-analysis-in-rett-syndrome-using-human-samples-from-different-tissues
#3
REVIEW
Stephen Shovlin, Daniela Tropea
The mechanisms of neuro-genetic disorders have been mostly investigated in the brain, however, for some pathologies, transcriptomic analysis in multiple tissues represent an opportunity and a challenge to understand the consequences of the genetic mutation. This is the case for Rett Syndrome (RTT): a neurodevelopmental disorder predominantly affecting females that is characterised by a loss of purposeful movements and language accompanied by gait abnormalities and hand stereotypies. Although the genetic aetiology is largely associated to Methyl CpG binding protein 2 (MECP2) mutations, linking the pathophysiology of RTT and its clinical symptoms to direct molecular mechanisms has been difficult...
July 11, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29996870/alpha-1-antitrypsin-deficiency-outstanding-questions-and-future-directions
#4
REVIEW
María Torres-Durán, José Luis Lopez-Campos, Miriam Barrecheguren, Marc Miravitlles, Beatriz Martinez-Delgado, Silvia Castillo, Amparo Escribano, Adolfo Baloira, María Mercedes Navarro-Garcia, Daniel Pellicer, Lucía Bañuls, María Magallón, Francisco Casas, Francisco Dasí
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which some aspects remain unresolved. METHODS: In this review, we summarise and update current knowledge on alpha-1 antitrypsin deficiency in order to identify and discuss areas of controversy and formulate questions that need further research...
July 11, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29986738/challenges-of-palliative-care-in-children-with-inborn-metabolic-diseases
#5
Jessica I Hoell, Jens Warfsmann, Felix Distelmaier, Arndt Borkhardt, Gisela Janßen, Michaela Kuhlen
BACKGROUND: Our objective was to evaluate children with metabolic diseases in paediatric palliative home care (PPC) and the process of decision-making. This study was conducted as single-centre retrospective cohort study of patients in the care of a large specialized PPC team. RESULTS: Between 01/2013 and 09/2016, 198 children, adolescents and young adults were in the care of our PPC team. Twenty-nine (14.6%) of these patients had metabolic conditions. Median age at referral was 2...
July 9, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29980216/molecular-diagnosis-of-anti-laminin-332-epiligrin-mucous-membrane-pemphigoid
#6
Roxana Chiorean, Sorina Danescu, Oana Virtic, Mayson B Mustafa, Adrian Baican, Annette Lischka, Takashi Hashimoto, Yoshinobu Kariya, Manuel Koch, Cassian Sitaru
BACKGROUND: Mucous membrane pemphigoid is a group of chronic subepithelial autoimmune blistering diseases that mainly affect mucous membranes. Laminin 332-specific autoantibodies are present in approximately 1/3 of the patients, being associated with an increased risk of malignancy. Because of the severe complications, an early recognition of the disease allowing a timely therapy is essential. The gold standard methods for detection of laminin 332-specific autoantibodies, including the immunoprecipitation and immunoblotting are non-quantitative, laborious and restricted to a few specialized laboratories worldwide...
July 6, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29976218/neurocognitive-and-somatic-stabilization-in-pediatric-patients-with-severe-mucopolysaccharidosis-type-i-after-52-weeks-of-intravenous-brain-penetrating-insulin-receptor-antibody-iduronidase-fusion-protein-valanafusp-alpha-an-open-label-phase-1-2-trial
#7
Roberto Giugliani, Luciana Giugliani, Fabiano de Oliveira Poswar, Karina Carvalho Donis, Amauri Dalla Corte, Mathias Schmidt, Ruben J Boado, Igor Nestrasil, Carol Nguyen, Steven Chen, William M Pardridge
BACKGROUND: Mucopolysaccharidosis (MPS) Type I (MPSI) is caused by mutations in the gene encoding the lysosomal enzyme, α-L-iduronidase (IDUA), and a majority of patients present with severe neurodegeneration and cognitive impairment. Recombinant IDUA does not cross the blood-brain barrier (BBB). To enable BBB transport, IDUA was re-engineered as an IgG-IDUA fusion protein, valanafusp alpha, where the IgG domain targets the BBB human insulin receptor to enable transport of the enzyme into the brain...
July 5, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29973227/long-term-safety-and-efficacy-of-pegvaliase-for-the-treatment-of-phenylketonuria-in-adults-combined-phase-2-outcomes-through-pal-003-extension-study
#8
Nicola Longo, Roberto Zori, Melissa P Wasserstein, Jerry Vockley, Barbara K Burton, Celeste Decker, Mingjin Li, Kelly Lau, Joy Jiang, Kevin Larimore, Janet A Thomas
BACKGROUND: Deficiency of phenylalanine hydroxylase causes phenylketonuria (PKU) with elevated phenylalanine (Phe) levels and associated neuropsychiatric and neurocognitive symptoms. Pegvaliase (PEGylated phenylalanine ammonia lyase) is an investigational agent to lower plasma Phe in adults with PKU. This study aimed to characterize the long-term efficacy, safety, and immunogenicity of pegvaliase in adults with PKU. METHODS: PAL-003 is an ongoing, open-label, long-term extension study of the pegvaliase dose-finding parent phase 2 studies...
July 4, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29973226/comprehensive-genetic-characteristics-of-dystrophinopathies-in-china
#9
Peipei Ma, Shu Zhang, Hao Zhang, Siying Fang, Yuru Dong, Yan Zhang, Weiwei Hao, Shiwen Wu, Yuying Zhao
BACKGROUND: Dystrophinopathies are a set of severe and incurable X-linked neuromuscular disorders caused by mutations in the dystrophin gene (DMD). These mutations form a complex spectrum. A national registration network is essential not only to provide more information about the prevalence and natural history of the disease, but also to collect genetic data for analyzing the mutational spectrum. This information is extremely beneficial for basic scientific research, genetic diagnosis, trial planning, clinical care, and gene therapy...
July 4, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29970136/17p13-3-genomic-rearrangement-in-a-chinese-family-with-split-hand-foot-malformation-with-long-bone-deficiency-report-of-a-complicated-duplication-with-marked-variation-in-phenotype
#10
Yuqi Shen, Nuo Si, Zhe Liu, Fang Liu, Xiaolu Meng, Ying Zhang, Xue Zhang
BACKGROUND: Split hand/foot malformation (SHFM) is a genetically heterogeneous limb malformation with variable expressivity. SHFM with tibia or femur aplasia is called SHFM with long bone deficiency (SHFLD). 17p13.3 duplications containing BHLHA9 are associated with SHFLD. Cases with variable SHFLD phenotype and different 17p13.3 duplicated regions are reported. The severity of long bone defect could not be simply explained by BHLHA9 overdosage or 17p13.3 duplication. METHODS: A four-generation Chinese SHFM family was recruited...
July 3, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29970125/amyloidosis-due-to-ttr-mutations-in-mexico-with-4-distincts-genotypes-in-the-index-cases
#11
Alejandra González-Duarte, Karla Cárdenas-Soto, Carlo Enrico Bañuelos, Omar Fueyo, Carolina Dominguez, Benjamín Torres, Carlos Cantú-Brito
No abstract text is available yet for this article.
July 3, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29970108/6-minute-walk-test-as-a-measure-of-disease-progression-and-fatigability-in-a-cohort-of-individuals-with-ryr1-related-myopathies
#12
Jessica W Witherspoon, Ruhi P Vasavada, Melissa R Waite, Monique Shelton, Irene C Chrismer, Paul G Wakim, Minal S Jain, Carsten G Bönnemann, Katherine G Meilleur
BACKGROUND: RYR1-related Myopathies (RYR1-RM) comprise a group of rare neuromuscular diseases (NMDs) occurring in approximately 1/90000 people in the US pediatric population. RYR1-RM result from pathogenic mutations in the ryanodine receptor isoform-1 (RYR1) gene where consequent RyR1 protein calcium dysregulation leads to impaired excitation-contraction coupling, oxidative and nitrosative stress, and mitochondrial depletion. These physiological deficits perpetuate RyR1 dysfunction causing further muscle injury, muscle weakness, and muscle fatigue...
July 3, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29954425/using-a-meta-narrative-literature-review-and-focus-groups-with-key-stakeholders-to-identify-perceived-challenges-and-solutions-for-generating-robust-evidence-on-the-effectiveness-of-treatments-for-rare-diseases
#13
REVIEW
Kylie Tingley, Doug Coyle, Ian D Graham, Lindsey Sikora, Pranesh Chakraborty, Kumanan Wilson, John J Mitchell, Sylvia Stockler-Ipsiroglu, Beth K Potter
INTRODUCTION: For many rare diseases, strong analytic study designs for evaluating the efficacy and effectiveness of interventions are challenging to implement because of small, geographically dispersed patient populations and underlying clinical heterogeneity. The objective of this study was to integrate perspectives from published literature and key rare disease stakeholders to better understand the perceived challenges and proposed methodological approaches to research on clinical interventions for rare diseases...
June 28, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29945661/carbohydrate-status-in-patients-with-phenylketonuria
#14
María L Couce, Paula Sánchez-Pintos, Isidro Vitoria, María-José De Castro, Luís Aldámiz-Echevarría, Patricia Correcher, Ana Fernández-Marmiesse, Iria Roca, Alvaro Hermida, Miguel Martínez-Olmos, Rosaura Leis
BACKGROUND: In patients with phenylketonuria (PKU), a low-phenylalanine (Phe) diet supplemented with low-protein foods and a Phe-free amino acid mixture favors a dietary intake rich in carbohydrates, but little is known about how these molecules are metabolized in this setting. The objective of the present study was to analyze carbohydrate metabolism in patients with hyperphenylalaninemia. METHODS: We conducted a multicenter cross-sectional study to investigate biochemical markers of basal and postprandial carbohydrate metabolism in PKU patients according to age, Phe tolerance, waist circumference and body mass index (BMI), diet, tetrahydrobiopterin (BH4) supplementation, and adherence to treatment...
June 27, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29945639/longitudinal-hearing-loss-in-wolfram-syndrome
#15
Roanne Karzon, Anagha Narayanan, Ling Chen, Judith E C Lieu, Tamara Hershey
BACKGROUND: Wolfram syndrome (WFS) is a rare autosomal recessive disease with clinical manifestations of diabetes mellitus (DM), diabetes insipidus (DI), optic nerve atrophy (OA) and sensorineural hearing loss (SNHL). Although SNHL is a key symptom of WFS, there is limited information on its natural history using standardized measures. Such information is important for clinical care and determining its use as an outcome measure in clinical trials. METHODS: Standardized audiologic measures, including pure-tone testing, tympanometry, speech perception, and the unaided Speech Intelligibility Index (SII) were assessed in patients with confirmed WFS annually...
June 27, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29941009/status-of-nutrients-important-in-brain-function-in-phenylketonuria-a-systematic-review-and-meta-analysis
#16
Gina A Montoya Parra, Rani H Singh, Aysun Cetinyurek-Yavuz, Mirjam Kuhn, Anita MacDonald
BACKGROUND: Despite early and ongoing dietary management with a phe-restricted diet, suboptimal neuropsychological function has been observed in PKU. The restrictive nature of the PKU diet may expose patients to sub-optimal nutritional intake and deficiencies which may impact normal brain function. A systematic review of the published literature was carried out, where possible with meta-analysis, to compare the status of nutrients (Nutrients: DHA, EPA phospholipids, selenium, vitamins B6 , B12 , E, C, A, D, folic acid, choline, uridine, calcium, magnesium, zinc, iron, iodine and cholesterol) known to be important for brain development and functioning between individuals with PKU and healthy controls...
June 26, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29941005/increased-extracellular-matrix-deposition-during-chondrogenic-differentiation-of-dental-pulp-stem-cells-from-individuals-with-neurofibromatosis-type-1-an-in-vitro-2d-and-3d-study
#17
Paula Nascimento Almeida, Deuilton do Nascimento Barboza, Eloá Borges Luna, Maria Clara de Macena Correia, Rhayra Braga Dias, Ana Caroline Siquara de Sousa, Maria Eugenia Leite Duarte, Maria Isabel Doria Rossi, Karin Soares Cunha
BACKGROUND: Neurofibromatosis 1 (NF1) presents a wide range of clinical manifestations, including bone alterations. Studies that seek to understand cellular and molecular mechanisms underlying NF1 orthopedic problems are of great importance to better understand the pathogenesis and the development of new therapies. Dental pulp stem cells (DPSCs) are being used as an in vitro model for several diseases and appear as a suitable model for NF1. The aim of this study was to evaluate in vitro chondrogenic differentiation of DPSCs from individuals with NF1 using two-dimensional (2D) and three-dimensional (3D) cultures...
June 25, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29940999/thymectomy-in-nonthymomatous-myasthenia-gravis-systematic-review-and-meta-analysis
#18
REVIEW
Antônio J M Cataneo, Gilmar Felisberto, Daniele C Cataneo
BACKGROUND: The objective of this study is to evaluate by means of a systematic review, the efficacy of thymectomy as compared to medical treatment for non-thymomatous myasthenia gravis (MG). METHODS: Medline, Embase, and Lilacs were searched for experimental and observational studies that compared non-surgical (drug therapy) and surgical treatment of non-thymomatous MG (thymectomy performed by the transsternal approach). Inclusion criteria were: studies that compared the two types of treatment and had at least 10 adult patients in each group...
June 25, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29940997/pathophysiology-of-carotid-cavernous-fistulas-in-vascular-ehlers-danlos-syndrome-a-retrospective-cohort-and-comprehensive-review
#19
Salma Adham, Denis Trystram, Juliette Albuisson, Valérie Domigo, Anne Legrand, Xavier Jeunemaitre, Michael Frank
BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a rare condition characterized by connective tissue fragility. Direct spontaneous carotid-cavernous fistula (sCCF) is reportedly pathognomonic of vEDS. We conducted this study to understand the possible mechanisms of occurrence of sCCF in this subset of patients. METHODS: We conducted a retrospective analysis of a monocentric vEDS cohort along with a literature review regarding sCCF in this condition. RESULTS: Of 133 patients regularly followed in our centre between 2000 and 2017, 13 (9...
June 25, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29925433/target-achievement-and-cardiovascular-event-rates-with-lomitapide-in-homozygous-familial-hypercholesterolaemia
#20
Dirk J Blom, Marina Cuchel, Miranda Ager, Helen Phillips
BACKGROUND: Homozygous familial hypercholesterolaemia (HoFH) is characterized by a markedly increased risk of premature cardiovascular (CV) events and cardiac death. Lomitapide reduces low-density lipoprotein cholesterol (LDL-C) levels; however, the probable impact on LDL-C goals and CV events is unknown. METHODS: We used data collected in the first 26 weeks of the lomitapide pivotal phase 3 study (NCT00730236) to evaluate achievement of European Atherosclerosis Society (EAS) LDL-C targets...
June 20, 2018: Orphanet Journal of Rare Diseases
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