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Hypophosphatasia

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https://www.readbyqxmd.com/read/28401263/mutational-and-biochemical-findings-in-adults-with-persistent-hypophosphatasemia
#1
F E McKiernan, J Dong, R L Berg, E Scotty, P Mundt, L Larson, I Rai
A majority of adults with persistently low serum alkaline phosphatase values carry a pathogenic or likely pathogenic variant in the ALPL gene and also have elevated alkaline phosphatase substrate values in serum and urine. These adults may fall within the spectrum of the adult form of hypophosphatasia. INTRODUCTION: The primary objective of this study was to determine what proportion of adults with persistently low serum alkaline phosphatase values (hypophosphatasemia) harbor mutations in the ALPL gene or have elevated alkaline phosphatase (ALP) substrates...
April 12, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28377728/tissue-nonspecific-alkaline-phosphatase-tnap-regulates-cranial-base-growth-and-synchondrosis-maturation
#2
Hwa K Nam, Monika Sharma, Jin Liu, Nan E Hatch
Hypophosphatasia is a rare heritable disorder caused by inactivating mutations in the gene (Alpl) that encodes tissue nonspecific alkaline phosphatase (TNAP). Hypophosphatasia with onset in infants and children can manifest as rickets. How TNAP deficiency leads to bone hypomineralization is well explained by TNAP's primary function of pyrophosphate hydrolysis when expressed in differentiated bone forming cells. How TNAP deficiency leads to abnormalities within endochondral growth plates is not yet known. Previous studies in hypophosphatemic mice showed that phosphate promotes chondrocyte maturation and apoptosis via MAPK signaling...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28374482/safety-and-efficacy-of-treatment-with-asfotase-alfa-in-patients-with-hypophosphatasia-results-from-a-japanese-clinical-trial
#3
Taichi Kitaoka, Toshihiro Tajima, Keisuke Nagasaki, Toru Kikuchi, Katsusuke Yamamoto, Toshimi Michigami, Satoshi Okada, Ikuma Fujiwara, Masayuki Kokaji, Hiroshi Mochizuki, Tsutomu Ogata, Koji Tatebayashi, Atsushi Watanabe, Shuichi Yatsuga, Takuo Kubota, Keiichi Ozono
OBJECTIVE: Hypophosphatasia (HPP) is a rare skeletal disease characterized by hypomineralization and low alkaline phosphatase activity. Asfotase alfa (AA) has been recently developed to treat HPP complications. This study evaluated its safety and efficacy in Japan. DESIGN: Open-label, multicenter, prospective trial. Patients were enrolled in 11 hospitals from June 2014 to July 2015. PATIENTS: Thirteen patients (9 females, 4 males) ages 0 days to 34 years at baseline were enrolled and treated with AA (2 mg/kg three times weekly subcutaneously in all but one patient)...
April 4, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28328803/incident-acute-pseudogout-and-prior-bisphosphonate-use-matched-case-control-study-in-the-uk-clinical-practice-research-datalink
#4
Edward Roddy, Sara Muller, Zoe Paskins, Samantha L Hider, Milisa Blagojevic-Bucknall, Christian D Mallen
Oral bisphosphonates are the most commonly used drugs to treat postmenopausal osteoporosis. Acute pseudogout is anecdotally reported to occur following bisphosphonate initiation but empirical data are lacking. We investigated whether treatment with oral bisphosphonates is a risk factor for incident acute pseudogout.A matched case-control study was undertaken using data from the UK-Clinical Practice Research Datalink. Adults who consulted for incident acute pseudogout between 1987 and 2012 were each matched for gender, age at pseudogout diagnosis, and general practice to up to 4 control subjects without pseudogout...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28326564/parental-serum-alkaline-phosphatase-activity-as-an-auxiliary-tool-for-prenatal-diagnosis-of-hypophosphatasia
#5
Yuichiro Takahashi, Hideaki Sawai, Jun Murotsuki, Shuhei Satoh, Takahiro Yamada, Hiromi Hayakawa, Yutaka Kouduma, Masakatsu Sase, Atsushi Watanabe, Osamau Miyazaki, Gen Nishimura
OBJECTIVE: The objective of this study is to clarify the usefulness of parental alkaline phosphatase (ALP) for prenatal diagnosis of hypophosphatasia (HPP). METHODS: Maternal (m) and paternal (p) ALP values were measured in 77 cases from a multicenter cohort (fetal skeletal dysplasia forum in Japan) of cases with short limbs on ultrasonography during pregnancy. After birth, X-rays, cord blood ALP, and gene analysis were evaluated to achieve an exact diagnosis. The screening usefulness of ALP was examined retrospectively...
March 22, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28326335/multiple-fractures-pain-and-severe-disability-in-a-patient-with-adult-onset-hypophosphatasia
#6
Neil A Braunstein
Hypophosphatasia (HPP) is a rare, inherited metabolic bone disease resulting from mutations in the gene encoding tissue non-specific alkaline phosphatase. The biochemical hallmark and key diagnostic indicator is low alkaline phosphatase activity, which leads to a variety of clinical manifestations across all ages. The diagnosis is easily missed in adults, who frequently present with nonspecific clinical manifestations such as fractures, osteomalacia, and pain. Here, the pathway to diagnosis and disease course is described in an adult patient presenting with pain...
June 2016: Bone Reports
https://www.readbyqxmd.com/read/28238808/hypophosphatasia-an-overview-for-2017
#7
Michael P Whyte
Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features low serum alkaline phosphatase (ALP) activity (hypophosphatasemia) caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of ALP (TNSALP). Autosomal recessive or autosomal dominant inheritance from among >300 TNSALP (ALPL) mutations largely explains HPP's remarkably broad-ranging severity. TNSALP is a cell-surface homodimeric phosphohydrolase richly expressed in the skeleton, liver, kidney, and developing teeth...
February 24, 2017: Bone
https://www.readbyqxmd.com/read/28127875/molecular-and-clinical-analysis-of-alpl-in-a-cohort-of-patients-with-suspicion-of-hypophosphatasia
#8
Jair Tenorio, Ignacio Álvarez, Leyre Riancho-Zarrabeitia, Gabriel Á Martos-Moreno, Giorgia Mandrile, Monserrat de la Flor Crespo, Mikhail Sukchev, Mostafa Sherif, Iza Kramer, María T Darnaude-Ortiz, Pedro Arias, Gema Gordo, Irene Dapía, Julián Martinez-Villanueva, Rubén Gómez, José Manuel Iturzaeta, Ghada Otaify, Mayte García-Unzueta, Alessandro Rubinacci, José A Riancho, Mona Aglan, Samia Temtamy, Mohamed Abdel Hamid, Jesús Argente, Víctor L Ruiz-Pérez, Karen E Heath, Pablo Lapunzina
Hypophosphatasia (HPP) is a rare autosomal dominant or recessive metabolic disorder caused by mutations in the tissue nonspecific alkaline phosphatase gene (ALPL). To date, over 300 different mutations in ALPL have been identified. Disease severity is widely variable with severe forms usually manifesting during perinatal and/or infantile periods while mild forms are sometimes only diagnosed in adulthood or remain undiagnosed. Common clinical features of HPP are defects in bone and tooth mineralization along with the biochemical hallmark of decreased serum alkaline phosphatase activity...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28072448/identification-of-altered-brain-metabolites-associated-with-tnap-activity-in-a-mouse-model-of-hypophosphatasia-using-untargeted-nmr-based-metabolomics-analysis
#9
Thomas Cruz, Marie Gleizes, Stéphane Balayssac, Etienne Mornet, Grégory Marsal, José Luis Millán, Myriam Malet-Martino, Lionel G Nowak, Véronique Gilard, Caroline Fonta
Tissue non-specific alkaline phosphatase (TNAP) is a key player of bone mineralization and TNAP gene (ALPL) mutations in human are responsible for hypophosphatasia (HPP), a rare heritable disease affecting the mineralization of bones and teeth. Moreover, TNAP is also expressed by brain cells and the severe forms of HPP are associated with neurological disorders, including epilepsy and brain morphological anomalies. However, TNAP's role in the nervous system remains poorly understood. To investigate its neuronal functions, we aimed to identify without any a priori the metabolites regulated by TNAP in the nervous tissue...
March 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28000043/molecular-defect-of-tissue-nonspecific-alkaline-phosphatase-bearing-a-substitution-at-position-426-associated-with-hypophosphatasia
#10
Hiba A Al-Shawafi, Keiichi Komaru, Kimimitsu Oda
Mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP) cause hypophosphatasia (HPP), a genetic disorder characterized by deficiency of serum ALP and hypomineralization of bone and teeth. Three missense mutations for glycine 426 (by standard nomenclature) of TNSALP have been reported: cysteine (p.G426C), serine (p.G426S), and aspartate (p.G426D). We expressed TNSALP mutants carrying each missense mutation in mammalian cells. All three TNSALP mutants appeared on the cell surface like the wild-type (WT) TNSALP, although the cells expressing each TNSALP mutant exhibited markedly reduced ALP activity...
March 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/27998428/-mutation-analysis-for-two-hypophosphatasia-families-with-targeted-next-generation-sequencing
#11
Y Bai, N Liu, J Yang, Y Guo, X D Kong
Objective: To detect the mutations in alkaline phosphatase (ALPL) gene of two Chinese families with perinatal hypophosphatasia (HPP), in order to explore the mechanism of this condition. Methods: Next-generation sequencing (NGS) of osteology system panel was carried out for exome sequencing in the mothers of 2 HPP fetuses, who visited Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University. Further polymerase chain reaction (PCR) and Sanger sequencing validation was performed in the parents, affected fetuses and 200 unrelated healthy individuals to verify the mutation sites...
December 13, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/27994097/recognizing-the-clinical-triad-and-dural-calcification-in-adult-hypophosphatasia
#12
Li-Ching Chew, ChiWai Tong, Carl Bryant, Frederick Joshua
No abstract text is available yet for this article.
December 19, 2016: Rheumatology
https://www.readbyqxmd.com/read/27920814/low-energy-trauma-induced-intercondylar-femoral-fracture
#13
Mathias Aeby, Tobias Wyss, Birgit Mentrup, Erdmute Kunstmann, Franz Jakob, Daniel Aeberli
We present a 44-year-old female patient with recurrent fragility fractures including an intercondylar femoral fracture and with normal planar bone densitometry. Diagnosis of hypophosphatasia was suggested by low volumetric cortical bone mineral density and laboratory findings. DNA sequencing revealed heterozygous mutations in the exons 5, 6 and 9 of the ALPL gene, thus confirming the suspected diagnosis.
May 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/27847653/nondestructive-microcomputed-tomography-evaluation-of-mineral-density-in-exfoliated-teeth-with-hypophosphatasia
#14
Sachiko Hayashi-Sakai, Takafumi Hayashi, Makoto Sakamoto, Jun Sakai, Junko Shimomura-Kuroki, Hideyoshi Nishiyama, Kouji Katsura, Makiko Ike, Yutaka Nikkuni, Miwa Nakayama, Marie Soga, Taichi Kobayashi
Most cases of hypophosphatasia (HPP) exhibit early loss of primary teeth. Results of microcomputed tomography (micro-CT) analysis of teeth with HPP have rarely been reported. The purpose of the present study was to describe the mineral density distribution and mapping of exfoliated teeth from an HPP patient using micro-CT. Four exfoliated teeth were obtained from a patient with HPP. Enamel and dentin mineral densities of exfoliated teeth were measured on micro-CT. The mean values of enamel and dentin mineral densities in mandibular primary central incisors with HPP were 1...
2016: Case Reports in Dentistry
https://www.readbyqxmd.com/read/27805893/hypophosphatasia-evaluation-of-size-and-mineral-density-of-exfoliated-teeth
#15
S Hayashi-Sakai, N Numa-Kinjoh, M Sakamoto, J Sakai, J Matsuyama, T Mitomi, T Sano-Asahito, S Kinoshita-Kawano
OBJECTIVE: Most cases of hypophosphatasia (HPP) exhibit early loss of primary teeth. Results of micro-computed tomography (micro-CT) analysis of teeth with HPP have not yet been reported. The purpose of the present study was to describe the size and mineral density distribution and mapping of exfoliated teeth with HPP using micro CT. STUDY DESIGN: Seven exfoliated teeth were obtained from a patient with HPP. Exfoliated teeth sizes were measured on micro CT images and mineral densities of the mandibular primary central incisors were determined...
2016: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/27796472/-hypophosphatasia-what-is-currently-available-for-treatment
#16
T Schmidt, M Amling, F Barvencik
This review presents the current knowledge on the diagnosis and treatment of hypophosphatasia, a rare genetic disease, caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene. The clinical spectrum of hypophosphatasia is highly variable ranging from lethal infantile forms to mild forms diagnosed in adults. Although the disease rarely occurs, correct diagnosis is important to provide appropriate treatment and to avoid worsening by use of harmful drugs such as bisphosphonates. Low serum values of alkaline phosphatase (ALP) is the main feature of HPP, but by itself not sufficient for diagnosis, as it can occur under different conditions...
December 2016: Der Internist
https://www.readbyqxmd.com/read/27780282/clinical-images-a-cloudy-skull-hypophosphatasia-as-reason-for-copper-beaten-skull
#17
Martin Poryo, Sascha Meyer, Regina Eymann, Umut Yilmaz, Sogand Nemat, Tilman Rohrer
No abstract text is available yet for this article.
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27777120/a-homozygous-intronic-branch-point-deletion-in-the-alpl-gene-causes-infantile-hypophosphatasia
#18
Birgit Mentrup, Hermann Girschick, Franz Jakob, Christine Hofmann
Hypophosphatasia (HPP) is a multi-systemic inborn disease with an extraordinary spectrum of severity, ranging from the absence of mineralization to high lethality and it involves different organs including bone, muscle, kidney, lung, gastrointestinal tract and the nervous system. The disease is characterized by low levels of serum alkaline phosphatase, caused by loss-of-function mutations within the ALPL gene that encodes the tissue-nonspecific alkaline phosphatase TNAP. Here we present the functional characterization of a gene mutation, detected in intron 7 of the ALPL gene of a boy with infantile HPP in whom routine sequencing of the coding region failed to detect any mutation...
January 2017: Bone
https://www.readbyqxmd.com/read/27726750/imaging-findings-of-metabolic-bone-disease
#19
Connie Y Chang, Daniel I Rosenthal, Deborah M Mitchell, Atsuhiko Handa, Susan V Kattapuram, Ambrose J Huang
Metabolic bone diseases are a diverse group of diseases that result in abnormalities of (a) bone mass, (b) structure mineral homeostasis, (c) bone turnover, or (d) growth. Osteoporosis, the most common metabolic bone disease, results in generalized loss of bone mass and deterioration in the bone microarchitecture. Impaired chondrocyte development and failure to mineralize growth plate cartilage in rickets lead to widened growth plates and frayed metaphyses at sites of greatest growth. Osteomalacia is the result of impaired mineralization of newly formed osteoid, which leads to characteristic Looser zones...
October 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27704676/the-editor-recommends-this-issue-s-article-to-the-reader-hypophosphatasia-diagnosis-and-clinical-signs-a-dental-surgeon-perspective
#20
EDITORIAL
(no author information available yet)
No abstract text is available yet for this article.
November 2016: International Journal of Paediatric Dentistry
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