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Hypophosphatasia

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https://www.readbyqxmd.com/read/29774402/subtrochanteric-and-diaphyseal-femoral-fractures-in-hypophosphatasia-not-atypical-at-all
#1
F Genest, L Seefried
Risk for subtrochanteric and diaphyseal femoral fractures is considered increased in patients with hypophosphatasia (HPP). Evaluating a large cohort of HPP patients, we could for the first time quantify the prevalcence and identify both morphometric features as well as predisposing factors for this complication of severe HPP. INTRODUCTION: Subtrochanteric and diaphyseal femoral fractures have been associated with both, long-term antiresorptive treatment and metabolic bone disorders, specifically Hypophosphatasia (HPP)...
May 17, 2018: Osteoporosis International
https://www.readbyqxmd.com/read/29753346/clinical-outcome-assessments-use-of-normative-data-in-a-pediatric-rare-disease
#2
Dawn Phillips, Beth Leiro
Pediatric rare diseases present unique challenges in clinical trial design and in selection of clinical outcome assessments (COAs) used to support claims in medical product labeling. COAs that discriminate level of function relative to a normative sample are particularly important in the pediatric rare disease setting because the literature is often void of natural history data. Pediatric rare disease clinical trials will often include a wide age distribution. Gross and fine motor skills, communication, cognition, and independence in activities of daily living vary by age, and it may be difficult to distinguish between treatment effect and change due to developmental maturation...
May 2018: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/29724887/four-novel-mutations-in-the-alpl-gene-in-chinese-patients-with-odonto-childhood-and-adult-hypophosphatasia
#3
Lijun Xu, Qianqian Pang, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Weibo Xia
Background and purpose: Hypophosphatasiais (HPP) is a rare inherited disorder characterized by defective bone and/or dental mineralization, and decreased serum alkaline phosphatase activity. ALPL , the only gene related with HPP, encodes tissue non-specific alkaline phosphatase (TNSALP). Few studies were carried out in ALPL gene mutations in the Chinese population with HPP. The purpose of this study is to elucidate the clinical and genetic characteristics of HPP in 5 unrelated Chinese families and 2 sporadic patients...
May 3, 2018: Bioscience Reports
https://www.readbyqxmd.com/read/29709501/spurious-testosterone-laboratory-results-in-a-patient-taking-synthetic-alkaline-phosphatase-asfotase-alfa
#4
Alina G Sofronescu, Meredith Ross, Eric Rush, Whitney Goldner
OBJECTIVES: We report a case of discordant total and free testosterone values in a patient with hypogonadism and juvenile hypophosphatasia after he initiated treatment with asfotase alfa, recombinant tissue non-specific alkaline phosphatase. METHODS: Total testosterone was evaluated using immunoassay pre and post initiation of therapy with asfotase alfa, and free testosterone was evaluated using radioimmunoassay and LC-MS/MS while on asfotase alfa therapy. RESULTS: Total testosterone measured by immunoassay was normal prior to therapy with asfotase alfa, and was low post initiation of therapy...
April 27, 2018: Clinical Biochemistry
https://www.readbyqxmd.com/read/29659871/rare-variants-in-the-gene-alpl-that-cause-hypophosphatasia-are-strongly-associated-with-ovarian-and-uterine-disorders
#5
Kathryn M Dahir, Daniel R Tilden, Jeremy L Warner, Lisa Bastarache, Derek K Smith, Aliya Gifford, Andrea H Ramirez, Jill Simmons, Margo M Black, John H Newman, Josh C Denny
Background: Mutations in ALPL, which encodes tissue-nonspecific isozyme alkaline phosphatase (TNSALP), cause hypophosphatasia (HPP). HPP is suspected by a low serum alkaline phosphatase (AlkP). We hypothesized that some patients with bone or dental disease have undiagnosed HPP caused by ALPL variants. Our objective was to discover the prevalence of these gene variants in the Vanderbilt DNA biobank (BioVU) and to assess phenotypic associations. Methods: We identified subjects in BioVU, a repository of DNA, that had at least one of three known rare HPP disease-causing variants in ALPL: rs199669988, rs121918007, rs121918002...
April 6, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29551976/haploinsufficient-tnap-mice-display-decreased-extracellular-atp-levels-and-expression-of-pannexin-1-channels
#6
Álvaro Sebastián-Serrano, Laura de Diego-García, David C Henshall, Tobías Engel, Miguel Díaz-Hernández
Hypophosphatasia (HPP) is a rare heritable metabolic bone disease caused by hypomorphic mutations in the ALPL (in human) or Akp2 (in mouse) gene, encoding the tissue-nonspecific alkaline phosphatase (TNAP) enzyme. In addition to skeletal and dental malformations, severe forms of HPP are also characterized by the presence of spontaneous seizures. Initially, these seizures were attributed to an impairment of GABAergic neurotransmission caused by altered vitamin B6 metabolism. However, recent work by our group using knockout mice null for TNAP (TNAP-/-), a well-described model of infantile HPP, has revealed a deregulation of purinergic signaling contributing to the seizure phenotype...
2018: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29512530/-homeostasis-and-disorder-of-musculoskeletal-system-diagnosis-and-treatment-of-congenital-musculoskeletal-diseases
#7
Toshimi Michigami
Congenital skeletal dysplasias have been considered to be fundamentally untreatable diseases. However, molecular diagnosis by genetic testing has become more prevalent, and efforts are being made to develop novel therapies based on the pathogenesis. As treatments for osteogenesis imperfecta, in addition to anti-resorptive agents, neutralizing antibodies against sclerostin and transforming growth factor(TGF)-β and chemical chaperones can be beneficial. Enzyme replacement therapy using bone-targeting recombinant alkaline phosphatase has been recently developed to treat hypophosphatasia and has much improved the prognosis of the patients affected with severe forms of the disease...
2018: Clinical Calcium
https://www.readbyqxmd.com/read/29405942/hypophosphatasia-the-patient-s-and-patient-s-family-s-point-of-view
#8
S Ursprung
Today, public opinion and the French authorities are more aware of rare diseases, in particular due to the implementation of national plans for rare diseases (PNMR I: 2005-2008 and PNMR II: 2011-2016), the existence of national networks and the current organization of the reference expert centers for rare diseases. While the management of rare diseases is now better structured, it remains long for the patients to be diagnosed. It is not always easy for physicians to clearly identify one of the 7,000 rare diseases even though they increasingly ask themselves the question: is this a rare disease? A person diagnosed with a rare disease lives in a familial, social and professional environment that has not prepared him or her, suddenly or after years of uncertainty, for such an experience...
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29405941/renal-impairment-in-hypophosphatasia
#9
J Bacchetta
Renal impairment in hypophosphatasia (HPP) has been described but remains poorly understood: hypercalciuria, nephrocalcinosis and sometimes even chronic kidney failure secondary to chronic hypercalcemia/hypercalciuria or exposure to toxic agents. The objectives of this review are to describe the different renal lesions observed in HPP, and the therapeutic measures that can be applied (in particular, thiazide diuretics).
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29405940/craniosynostosis-and-hypophosphatasia
#10
F Di Rocco, G Baujat, V Cormier-Daire, A Rothenbuhler, A Linglart
Hypophosphatasia (HPP) when diagnosed at a young age may induce premature fusion of one or several cranial sutures, resulting in a craniocerebral disproportion. The main forms of craniosynostosis associated with HPP are loss of the sagittal suture (scaphocephaly), alone or associated with loss of the coronal sutures (oxycephaly) or associated with loss of the coronal and lambdoid sutures (pansynostosis). Craniosynostosis is accompanied by putatively functional consequences. Diagnosis must thus be early and lead to management by a specialized team...
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29405939/neuromuscular-features-of-hypophosphatasia
#11
C Fonta, J-P Salles
The pathophysiology of the neuromuscular manifestations of hypophosphatasia (HPP) remains unknown. Pyridoxine-sensitive seizures characterize severe forms of infantile HPP. Young children and infants affected with severe forms of HPP, but also adults often present with myopathy characterized by hypotonia or muscle weakness. Chronic pain, of unclear mechanism is also often present. Tissue-non-specific alkaline phosphatase (Alkaline Phosphatase-Liver/Bone/Kidney [ALPL]) is expressed in brain neuronal cell and in muscle cells during development and adulthood...
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29405938/hypophosphatasia-oral-cavity-and-dental-disorders
#12
A Bloch-Zupan, F Vaysse
Dental anomalies exist in every subtype of hypophosphatasia (HPP), from the most severe to the most moderate, called odontohypophosphatasia. The forms are defined by the age at onset of the initial symptoms. These anomalies affect all dental mineralized tissues from enamel, dentin and cementum to alveolar bone in a gradient proportional to the severity of the disease. Early loss of the deciduous teeth, before 3 years of age, and then possibly of the permanent teeth, is due to an abnormality of the cementum, the tissue attaching the teeth to alveolar bone, and is the most frequent abnormality...
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29405937/hypophosphatasia-the-contribution-of-imaging
#13
A Linglart, J-P Salles
Radiography and imaging are necessary for the diagnosis of hypophosphatasia (HPP) at all stages of life, from the antenatal period to the complications of adulthood, and in the forms of variable severity. The consequences of alkaline phosphatase activity deficiency, namely defective mineralization and bone fragility, may be detected by radiological tools and share features that distinguish them from other diseases responsible for mineralization defects. Radiography and imaging are also fundamental for the screening and diagnosis of the complications of HPP, some of which are related to the episodes of hypercalcemia and hyperphosphatemia (nephrocalcinosis)...
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29405936/adult-hypophosphatasia
#14
K Briot, C Roux
In adults, hypophosphatasia (HPP) may be revealed by fractures, mainly metatarsal and femoral, and by crystal-related joint diseases. Low alkaline phosphatase levels are often overlooked. There is no established treatment for adults but the diagnosis is important to prevent the use of therapies that promote bone resorption in this context of bone fragility.
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29405935/hypophosphatasia-in-children-and-adolescents-clinical-features-and-treatment
#15
A Rothenbuhler, A Linglart
Hypophosphatasia (HPP) is a rare genetic disease due to loss of function mutations in the gene that encodes for Alkaline Phosphatase-Liver (ALPL) that encodes for tissue non-specific alkaline phosphatase (TNSALP) or ALP. Juvenile HPP is, by definition, diagnosed between 6 months of age and adulthood. The clinical signs and symptoms of juvenile HPP are very heterogeneous in their presentation, severity and course. The bone (impaired bone mineralization, leg deformations, pain, rickets, growth abnormalities) and dental (premature loss of deciduous teeth) abnormalities are the best known...
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29405934/perinatal-and-infantile-hypophosphatasia-clinical-features-and-treatment
#16
G Baujat, C Michot, K H Le Quan Sang, V Cormier-Daire
Hypophosphatasia (HPP) is a rare hereditary disease characterized by defective skeletal mineralization, and with a broad severity spectrum. The perinatal forms, lethal and non-lethal, are associated with severe neonatal respiratory distress, potential seizures, hypotrophy and marked hypotonia. The diagnosis is rapidly suggested by a combination of typical radiological signs, hypercalcemia, hyperphosphatemia and low alkaline phosphatase (ALP) activity. In the infantile form, the clinical signs appear before the age of six months, but the patients usually have no or very mild signs at birth...
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29405933/laboratory-diagnosis-of-hypophosphatasia
#17
I Gennero, F Conte-Auriol, J-P Salles
The laboratory diagnosis of hypophosphatasia (HPP) is primarily based on the precise analysis of circulating serum alkaline phosphatase (ALP) activity, determined by biochemical assays. This analysis requires specific conditions of implementation and interpretation and should always be viewed in the light of the clinical and radiological data. Concerns regarding the normal ranges of ALP with respect to age, regarding ALP values that may overlap those of normal subjects in HPP patients, regarding apparently normal ALP values in cases of proven HPP, regarding differential diagnoses that may be responsible for low ALP values outside of HPP will be discussed...
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29405932/genetics-of-hypophosphatasia
#18
E Mornet
Hypophosphatasia (HPP) is a rare inherited disorder primarily affecting bone and dental mineralization. Although there is a continuum in the severity of the disease, clinical forms may be arbitrarily distinguished on the basis of age at onset and the presence or absence of bone symptoms: perinatal, infantile, juvenile, adult, prenatal benign, and odontological. Severe forms (perinatal and infantile) are autosomally recessively inherited while less severe forms may be autosomally recessively or dominantly inherited...
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29405931/hypophosphatasia-better-knowledge-for-better-care%C3%A2
#19
EDITORIAL
J-P Salles, A Linglart
No abstract text is available yet for this article.
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29360619/hypophosphatasia-biochemical-hallmarks-validate-the-expanded-pediatric-clinical-nosology
#20
Michael P Whyte, Stephen P Coburn, Lawrence M Ryan, Karen L Ericson, Fan Zhang
Hypophosphatasia (HPP) is the inborn-error-of-metabolism due to loss-of-function mutation(s) of the ALPL (TNSALP) gene that encodes the tissue non-specific isoenzyme of alkaline phosphatase (TNSALP). TNSALP represents a family of cell-surface phosphohydrolases differing by post-translational modification that is expressed especially in the skeleton, liver, kidney, and developing teeth. Thus, the natural substrates of TNSALP accumulate extracellularly in HPP including inorganic pyrophosphate (PPi), a potent inhibitor of mineralization, and pyridoxal 5'-phosphate (PLP), the principal circulating form of vitamin B6 ...
May 2018: Bone
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