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Hypophosphatasia

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https://www.readbyqxmd.com/read/27847653/nondestructive-microcomputed-tomography-evaluation-of-mineral-density-in-exfoliated-teeth-with-hypophosphatasia
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
(no author information available yet)
No abstract text is available yet for this article.
November 2016: International Journal of Paediatric Dentistry
https://www.readbyqxmd.com/read/27699270/asfotase-alfa-therapy-for-children-with-hypophosphatasia
#8
Michael P Whyte, Katherine L Madson, Dawn Phillips, Amy L Reeves, William H McAlister, Amy Yakimoski, Karen E Mack, Kim Hamilton, Kori Kagan, Kenji P Fujita, David D Thompson, Scott Moseley, Tatjana Odrljin, Cheryl Rockman-Greenberg
Background. Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Consequently, cell-surface deficiency of TNSALP phosphohydrolase activity leads to extracellular accumulation of inorganic pyrophosphate, a natural substrate of TNSALP and inhibitor of mineralization. Children with HPP can manifest rickets, skeletal pain, deformity, fracture, muscle weakness, and premature deciduous tooth loss. Asfotase alfa is a recombinant, bone-targeted, human TNSALP injected s...
June 16, 2016: JCI Insight
https://www.readbyqxmd.com/read/27621187/burden-of-disease-in-adult-patients-with-hypophosphatasia-results-from-two-patient-reported-surveys
#9
Thomas J Weber, Eileen K Sawyer, Scott Moseley, Tatjana Odrljin, Priya S Kishnani
BACKGROUND: Hypophosphatasia (HPP) is a rare metabolic bone disease caused by loss-of-function mutation(s) in the tissue-nonspecific alkaline (TNSALP) phosphatase gene, which manifests as rickets and/or osteomalacia with systemic complications and affects patients of all ages. The burden of disease is poorly characterized in adult patients. AIMS: We assessed patient-reported burden of disease using two surveys reasonably specific for HPP symptomatology, the Hypophosphatasia Impact Patient Survey (HIPS) and the Hypophosphatasia Outcomes Study Telephone interview (HOST)...
October 2016: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/27589035/isonicotinohydrazones-as-inhibitors-of-alkaline-phosphatase-and-ecto-5-nucleotidase
#10
Pervaiz Ali Channar, Syed Jawad Ali Shah, Sidra Hassan, Zaib Un Nisa, Joanna Lecka, Jean Sévigny, Jürgen Bajorath, Aamer Saeed, Jamshed Iqbal
A series of isonicotinohydrazides derivatives were synthesized and tested against recombinant human and rat ecto-5'-nucleotidases (h-e5'NT & r-e5'NT) and alkaline phosphatase isozymes including both bovine tissue-nonspecific alkaline phosphatase (b-TNAP) and tissue specific calf intestinal alkaline phosphatase (c-IAP). These enzymes are implicated in vascular calcifications, hypophosphatasia, solid tumors and cancers, such as colon, lung, breast, pancreas and ovary. All tested compounds were active against both enzymes...
September 2, 2016: Chemical Biology & Drug Design
https://www.readbyqxmd.com/read/27582029/conditional-alpl-ablation-phenocopies-dental-defects-of-hypophosphatasia
#11
B L Foster, P Kuss, M C Yadav, T N Kolli, S Narisawa, L Lukashova, E Cory, R L Sah, M J Somerman, J L Millán
Loss-of-function mutations in ALPL result in hypophosphatasia (HPP), an inborn error of metabolism that causes defective skeletal and dental mineralization. ALPL encodes tissue-nonspecific alkaline phosphatase, an enzyme expressed in bone, teeth, liver, and kidney that hydrolyzes the mineralization inhibitor inorganic pyrophosphate. As Alpl-null mice die before weaning, we aimed to generate mouse models of late-onset HPP with extended life spans by engineering a floxed Alpl allele, allowing for conditional gene ablation (conditional knockout [cKO]) when crossed with Cre recombinase transgenic mice...
August 31, 2016: Journal of Dental Research
https://www.readbyqxmd.com/read/27576207/hypophosphatasia-natural-history-study-of-101-affected-children-investigated-at-one-research-center
#12
Michael P Whyte, Deborah Wenkert, Fan Zhang
Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Resultant extracellular accumulation of inorganic pyrophosphate, a TNSALP substrate and potent inhibitor of mineralization, typically leads to tooth loss and sometimes to rickets or osteomalacia. HPP's remarkably broad-ranging severity is largely explained by autosomal dominant versus autosomal recessive transmission from among several hundred usually missense mutations positioned throughout the gene that encodes TNSALP...
December 2016: Bone
https://www.readbyqxmd.com/read/27561677/gene-therapy-improves-dental-manifestations-in-hypophosphatasia-model-mice
#13
R Okawa, O Iijima, M Kishino, H Okawa, S Toyosawa, H Sugano-Tajima, T Shimada, T Okada, K Ozono, T Ooshima, K Nakano
BACKGROUND AND OBJECTIVE: Hypophosphatasia is a rare inherited skeletal disorder characterized by defective bone mineralization and deficiency of tissue non-specific alkaline phosphatase (TNSALP) activity. The disease is caused by mutations in the liver/bone/kidney alkaline phosphatase gene (ALPL) encoding TNSALP. Early exfoliation of primary teeth owing to disturbed cementum formation, periodontal ligament weakness and alveolar bone resorption are major complications encountered in oral findings, and discovery of early loss of primary teeth in a dental examination often leads to early diagnosis of hypophosphatasia...
August 26, 2016: Journal of Periodontal Research
https://www.readbyqxmd.com/read/27535253/tendons-involvement-in-congenital-metabolic-disorders
#14
Michele Abate, Vincenzo Salini, Isabel Andia
Congenital metabolic disorders are consequence of defects involving single genes that code for enzymes. Blocking metabolic pathways, the defect leads to the shortage of essential compounds, and/or to the accumulation of huge quantities of precursors, which interfere with normal functions. Only few of these diseases are characterized by a clinically significant tendon involvement.Heterozygous Familial Hypercholesterolaemia results from the inheritance of a mutant low-density lipoprotein receptor gene; patients show high cholesterol levels, precocious coronary artery disease, and may develop tendon xanthomata (mainly in Achilles tendon)...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27531358/current-concepts-in-odontohypophosphatasia-form-of-hypophosphatasia-and-report-of-two-cases
#15
Zhu-Yu Wang, Kai Zhang, Guang-Sen Zheng, Wei Qiao, Yu-Xiong Su
BACKGROUND: Hypophosphatasia is a rare inherited disease derived from mutations in tissue non-specific alkaline phosphatase genes, with typical oral symptoms including short root anomaly and dysplasia of dentin or cementum. CASE PRESENTATION: Two young female patients presented with short root anomaly with a history of premature loss of deciduous and/or permanent teeth. The laboratory and imaging investigations were performed. One case was diagnosed as odontohypophosphatasia concurrent with hyperthyroidism, the other was odontohypophosphatasia concurrent with multiple radicular cysts...
August 17, 2016: BMC Oral Health
https://www.readbyqxmd.com/read/27507156/hypophosphatasia-and-the-risk-of-atypical-femur-fractures-a-case-control-study
#16
Timothy Bhattacharyya, Smita Jha, Hongying Wang, Daniel L Kastner, Elaine F Remmers
BACKGROUND: Case reports have linked adult hypophosphatasia as a possible cause of atypical femur fractures (AFF) associated with bisphosphonate use. Adult hypophosphatasia is an asymptomatic genetic condition which results in low alkaline phosphatase and elevated pyridoxal phosphate. We conducted a case-control study to assess the role of hypophosphatasia and atypical femur fracture. METHODS: We recruited 13 control patients who took long term bisphosphonates without complication and 10 patients who sustained atypical femur fractures (mean bisphosphonate use, 9 years both cohorts)...
2016: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/27466191/neurodevelopmental-alterations-and-seizures-developed-by-mouse-model-of-infantile-hypophosphatasia-are-associated-with-purinergic-signalling-deregulation
#17
Álvaro Sebastián-Serrano, Tobias Engel, Laura de Diego-García, Luis A Olivos-Oré, Marina Arribas-Blázquez, Carlos Martínez-Frailes, Carmen Pérez-Díaz, José Luis Millán, Antonio R Artalejo, María Teresa Miras-Portugal, David C Henshall, Miguel Díaz-Hernández
Hypomorphic mutations in the gene encoding the tissue-nonspecific alkaline phosphatase (TNAP) enzyme, ALPL in human or Akp2 in mice, cause hypophosphatasia (HPP), an inherited metabolic bone disease also characterized by spontaneous seizures. Initially, these seizures were attributed to the impairment of GABAergic neurotransmission caused by altered vitamin B6 (vit-B6) metabolism. However, clinical cases in human newborns and adults whose convulsions are refractory to pro-GABAergic drugs but controlled by the vit-B6 administration, suggest that other factors are involved...
July 27, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27403786/asfotase-alfa-strensiq-for-hypophosphatasia
#18
(no author information available yet)
No abstract text is available yet for this article.
2016: Medical Letter on Drugs and Therapeutics
https://www.readbyqxmd.com/read/27386757/physical-therapy-management-of-infants-and-children-with-hypophosphatasia
#19
Dawn Phillips, Laura E Case, Donna Griffin, Kim Hamilton, Sergio Lerma Lara, Beth Leiro, Jessica Monfreda, Elaine Westlake, Priya S Kishnani
Hypophosphatasia (HPP) is a rare inborn error of metabolism resulting in undermineralization of bone and subsequent skeletal abnormalities. The natural history of HPP is characterized by rickets and osteomalacia, increased propensity for bone fracture, early loss of teeth in childhood, and muscle weakness. There is a wide heterogeneity in disease presentation, and the functional impact of the disease can vary from perinatal death to gait abnormalities. Recent clinical trials of enzyme replacement therapy have begun to offer an opportunity for improvement in survival and function...
September 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27376160/asfotase-alfa-enzyme-replacement-for-the-treatment-of-bone-disease-in-hypophosphatasia
#20
REVIEW
C Hofmann, L Seefried, F Jakob
Hypophosphatasia (HPP) is a rare disease caused by loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNAP, TNSALP) gene. HPP causes a multisystemic syndrome with a predominant bone phenotype. The clinical spectrum ranges from high lethality in early onset (<6 months) HPP to mild late-onset syndromes. HPP management so far has been only supportive. Subcutaneous asfotase alfa, a first-in-class bone-targeted human TNAP enzyme replacement therapy, is the first compound to be approved for long-term treatment of bone manifestations in pediatric-onset HPP...
May 2016: Drugs of Today
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