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Article ; Online: The N221D variant in

Guijo, Blanca / Argente, Jesús / Martos-Moreno, Gabriel Ángel

Journal of pediatric endocrinology & metabolism : JPEM

2023 Volume 36, Issue 12, Page(s) 1140–1145

Abstract: Objectives: To study the prevalence and influence on metabolic profile of the prohormone-convertase-1 (PCSK1) N221D variant in childhood obesity, proven its role in the leptin-melanocortin signaling pathway as in proinsulin and other prohormone cleavage. ...

Abstract	Objectives: To study the prevalence and influence on metabolic profile of the prohormone-convertase-1 (PCSK1) N221D variant in childhood obesity, proven its role in the leptin-melanocortin signaling pathway as in proinsulin and other prohormone cleavage. Methods: Transversal study of 1066 children with obesity (mean age and BMI Z-score 10.38 ± 3.44 years and +4.38 ± 1.77, respectively), 51.4 % males, 54.4 % prepubertal, 71.5 % Caucasians and 20.8 % Latinos. Anthropometric and metabolic features were compared between patients carrying the N221D variant in Results: No variants were found in 531 patients (49.8 %), while 68 patients carried the Conclusions: The N221D variant in
MeSH term(s)	Male ; Humans ; Child ; Female ; Pediatric Obesity/epidemiology ; Pediatric Obesity/genetics ; Leptin/genetics ; Leptin/metabolism ; Diabetes Mellitus, Type 2 ; Melanocortins/metabolism ; Metabolome ; Proteins ; Adaptor Proteins, Signal Transducing/metabolism ; Proprotein Convertase 1/genetics ; Proprotein Convertase 1/metabolism
Chemical Substances	Leptin ; Melanocortins ; MAGEL2 protein, human ; Proteins ; SH2B1 protein, human ; Adaptor Proteins, Signal Transducing ; PCSK1 protein, human (EC 3.4.21.93) ; Proprotein Convertase 1 (EC 3.4.21.93)
Language	English
Publishing date	2023-10-26
Publishing country	Germany
Document type	Journal Article
ZDB-ID	1231070-0
ISSN	2191-0251 ; 0334-018X
ISSN (online)	2191-0251
ISSN	0334-018X
DOI	10.1515/jpem-2023-0395
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Article: Identifying subgroups of childhood obesity by using multiplatform metabotyping.

Chamoso-Sanchez, David / Rabadán Pérez, Francisco / Argente, Jesús / Barbas, Coral / Martos-Moreno, Gabriel A / Rupérez, Francisco J

Frontiers in molecular biosciences

2023 Volume 10, Page(s) 1301996

Abstract: Introduction: ...

Abstract	Introduction:
Language	English
Publishing date	2023-12-20
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2814330-9
ISSN	2296-889X
ISSN	2296-889X
DOI	10.3389/fmolb.2023.1301996
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Article ; Online: Prepubertal children with obesity have high free IGF-1 levels and accelerated growth despite reduced pappalysin levels.

Martín-Rivada, Álvaro / Martos-Moreno, Gabriel Á / Guerra-Cantera, Santiago / Campillo-Calatayud, Ana / Oxvig, Claus / Frystyk, Jan / Chowen, Julie A / Barrios, Vicente / Argente, Jesús

The Journal of clinical endocrinology and metabolism

2024

Abstract: Background: Prepubertal children with obesity frequently have enhanced growth, accelerated skeletal maturation and changes in the GH-IGF axis. However, the involvement of pappalysins (PAPP-A, PAPP-A2) and stanniocalcins (STC1, STC2) as regulators of IGF ...

Abstract	Background: Prepubertal children with obesity frequently have enhanced growth, accelerated skeletal maturation and changes in the GH-IGF axis. However, the involvement of pappalysins (PAPP-A, PAPP-A2) and stanniocalcins (STC1, STC2) as regulators of IGF bioavailability has not been studied in obesity. Objective: We aimed to determine the effects of childhood obesity and weight reduction on serum levels of PAPP-A, PAPP-A2, STC1 and STC2 and their relationship with IGF bioavailability, growth, and other components of the GH-IGF system. Patients and methods: Prepubertal children with severe obesity (150, 50% males/females, age: 7.72 ± 2.05 years, BMI z-score: 4.95 ± 1.70, height z-score: 1.28 ± 1.04) were studied at diagnosis and after a minimum of 0.5 BMI z-score reduction. Two hundred and six healthy age- and sex-matched children were used as controls. Results: Children with obesity had decreased serum concentrations of PAPP-A, PAPP-A2 and STC2, but increased total and free IGF-I (fIGF-I), intact IGFBP-3, ALS, IGF-II and insulin levels, with no difference in the free/total IGF-I ratio. Neither the standardized BMI nor height correlated with any biochemical parameter analyzed. A decrease in IGF-II, insulin, and ALS with an increase in IGFBP-2 and -5, STC2 and PAPP-A were observed after weight loss. Conclusion: Increased circulating total and free IGF-I, insulin and IGF-II may all contribute to the increased rate of prepubertal growth and bone maturation observed in children with obesity, with STC2 possibly being involved.
Language	English
Publishing date	2024-04-25
Publishing country	United States
Document type	Journal Article
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/clinem/dgae288
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Article ; Online: Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry.

Kishnani, Priya S / Martos-Moreno, Gabriel Ángel / Linglart, Agnès / Petryk, Anna / Messali, Andrew / Fang, Shona / Rockman-Greenberg, Cheryl / Ozono, Keiichi / Högler, Wolfgang / Seefried, Lothar / Dahir, Kathryn M

Orphanet journal of rare diseases

2024 Volume 19, Issue 1, Page(s) 109

Abstract: Background: Hypophosphatasia (HPP) is a rare inherited disease caused by deficient activity of tissue-nonspecific alkaline phosphatase. Many adults with HPP have a high burden of disease, experiencing chronic pain, fatigue, limited mobility, and dental ... ...

Abstract	Background: Hypophosphatasia (HPP) is a rare inherited disease caused by deficient activity of tissue-nonspecific alkaline phosphatase. Many adults with HPP have a high burden of disease, experiencing chronic pain, fatigue, limited mobility, and dental issues, contributing to decreased health-related quality of life (HRQoL). HPP may be treated with the enzyme replacement therapy asfotase alfa though real-world data in adults are limited. This analysis was conducted to assess the clinical effectiveness of asfotase alfa among adults in the Global HPP Registry. Methods: The Global HPP Registry is an observational, prospective, multinational study. Adults ≥ 18 years of age were included in this analysis if they had serum alkaline phosphatase (ALP) activity below the age- and sex-adjusted reference ranges, and/or ALPL variant(s), and received asfotase alfa for ≥ 6 months. Mobility was assessed with the 6-Minute Walk Test (6MWT), and patient-reported outcomes tools were used to assess pain (Brief Pain Inventory-Short Form), quality of life (36-item Short Form Health Survey, version 2 [SF-36v2]), and disability (Health Assessment Questionnaire-Disability Index) at multiple time points from baseline through Month 36. Data were collected as per usual standard of care; patients may not have contributed data at all time points. Results: A total of 190 patients met the inclusion criteria. For patients with ≥ 1 follow-up measurement, the mean distance achieved on 6MWT increased from 404 m (range 60-632 m) at baseline (n = 31) to 484 m at Month 12 (range 240-739 m; n = 18) and remained above baseline through Month 36 (n = 7). Improvements in mean self-reported pain severity scores ranged from - 0.72 (95% CI: - 1.23, - 0.21; n = 38) to - 1.13 (95% CI: - 1.76, - 0.51; n = 26) and were observed at all time points. Improvements in the Physical Component Summary score of SF-36v2 were achieved by Month 6 and sustained throughout follow-up. There was a trend toward improvement in the Mental Component Summary score of SF-36v2 at most time points, with considerable fluctuations from Months 12 (n = 28) through 36 (n = 21). The most frequent adverse events were injection site reactions. Conclusions: Adults with HPP who received asfotase alfa for ≥ 6 months experienced improvements in mobility, physical function, and HRQoL, which were maintained over 3 years of follow-up. Registration: NCT02306720; EUPAS13514.
MeSH term(s)	Adult ; Humans ; Alkaline Phosphatase/therapeutic use ; Hypophosphatasia/drug therapy ; Quality of Life ; Prospective Studies ; Registries ; Enzyme Replacement Therapy/methods ; Chronic Pain ; Immunoglobulin G ; Recombinant Fusion Proteins
Chemical Substances	asfotase alfa (Z633861EIM) ; Alkaline Phosphatase (EC 3.1.3.1) ; Immunoglobulin G ; Recombinant Fusion Proteins
Language	English
Publishing date	2024-03-08
Publishing country	England
Document type	Journal Article
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-024-03048-6
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Article ; Online: Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism.

Martín-Rivada, Álvaro / Argente, Jesús / Martos-Moreno, Gabriel Ángel

Journal of pediatric endocrinology & metabolism : JPEM

2020 Volume 33, Issue 11, Page(s) 1501–1505

Abstract: Background Aldosterone deficiency (hypoaldosteronism) or aldosterone resistance (pseudohypoaldosteronism) both result in defective aldosterone activity. Case presentation A 42-day-old man presented with failure to thrive, hyponatremia, high urine sodium ... ...

Abstract	Background Aldosterone deficiency (hypoaldosteronism) or aldosterone resistance (pseudohypoaldosteronism) both result in defective aldosterone activity. Case presentation A 42-day-old man presented with failure to thrive, hyponatremia, high urine sodium output, severe hyperkalemia and high plasma renin activity and aldosterone levels. NR3C2, SCNN1A, B and G sequencing showed no variants. Exclusive sodium supplementation resulted in clinical stabilization and growth normalization. His younger sibling had similar clinical and laboratory features, except for low-normal aldosterone. Both patients showed compound heterozygous mutations in CYP11B2 (c.C554T/2802pbE1-E2del). The younger patient needed transient fludrocortisone treatment and higher sodium supplementation, recuperating his weight and a normal growth velocity, although below his brother's and target height (c.10th vs. c.50th). Conclusions On a suggestive clinical picture, high aldosterone plasma levels in early infancy do not rule out aldosterone insufficiency and might mislead differential diagnosis with pseudohypoaldosteronism. Therapeutic requests and growth impairment in hypoaldosteronism vary even with a common genetic background.
MeSH term(s)	Aldosterone/blood ; Aldosterone/deficiency ; Child ; Child Development/physiology ; Child, Preschool ; Cytochrome P-450 CYP11B2/genetics ; Diagnosis, Differential ; Follow-Up Studies ; Growth Charts ; Humans ; Hypoaldosteronism/blood ; Hypoaldosteronism/diagnosis ; Hypoaldosteronism/genetics ; Infant ; Male ; Mutation ; Pseudohypoaldosteronism/blood ; Pseudohypoaldosteronism/diagnosis ; Pseudohypoaldosteronism/genetics ; Siblings ; Spain
Chemical Substances	Aldosterone (4964P6T9RB) ; Cytochrome P-450 CYP11B2 (EC 1.14.15.4)
Language	English
Publishing date	2020-08-15
Publishing country	Germany
Document type	Case Reports ; Journal Article
ZDB-ID	1231070-0
ISSN	2191-0251 ; 0334-018X
ISSN (online)	2191-0251
ISSN	0334-018X
DOI	10.1515/jpem-2020-0239
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Article ; Online: Carbohydrate metabolism impairment in children and adolescents with cystic fibrosis.

Escudero García, Janire / Martín Rivada, Álvaro / Uribe Posada, Amalia / Sanz Santiago, Verónica / Argente, Jesús / Martos-Moreno, Gabriel Ángel

Endocrinologia, diabetes y nutricion

2022 Volume 69, Issue 8, Page(s) 576–583

Abstract: Introduction: Development of cystic fibrosis-related diabetes (CFRD) is associated with worsening of nutritional status and lung function, as well as increased mortality. The relevance of diagnosing the «pre-diabetic» status in these patients has not ... ...

Abstract	Introduction: Development of cystic fibrosis-related diabetes (CFRD) is associated with worsening of nutritional status and lung function, as well as increased mortality. The relevance of diagnosing the «pre-diabetic» status in these patients has not been addressed and the utility of HbA1c measurement in these patients is under discussion. Aim: To study and characterise the different categories of carbohydrate metabolism impairment in paediatric patients with cystic fibrosis. Patients and methods: A transversal study for characterisation of carbohydrate metabolism impairment according to clinical and anthropometric status and genetic background in 50 paediatric patients with cystic fibrosis (CF) was undertaken. Oral glucose tolerance tests (OGTT) for determination of glucose and insulin levels measurement and continuous subcutaneous glucose monitoring (CSGM) were performed. Results: 6% of patients presented with CFRD, 26% impaired glucose tolerance, 10% an indeterminate glucose alteration and 2% impaired fasting glucose. The severity of glycaemic impairment correlated positively with age and negatively with standardised height (p < 0.05) with intergroup differences in HbA1c levels (p < 0.01), with the latter correlating with the duration of hyperglycaemia throughout CSGM. No intergroup differences in mutation prevalence, pulmonary function test, nutritional status or disease exacerbations in the previous year were found. The daily enzyme replacement dose correlated with the glucose area under the curve (AUC, p < 0.05) but not with insulin-AUC. Conclusions: An older age and greater enzyme replacement need are correlated with more severe carbohydrate metabolism impairment and lower standardized height in paediatric CF patients, with HbA1c correlating with the duration of hyperglycaemia. The study of the full glucose/insulin AUCs throughout the OGTT affords no additional information compared to glucose determination at 120 min in these patients.
MeSH term(s)	Humans ; Adolescent ; Child ; Cystic Fibrosis/complications ; Blood Glucose/metabolism ; Blood Glucose Self-Monitoring ; Glycated Hemoglobin A ; Glucose Intolerance/diagnosis ; Insulin ; Diabetes Mellitus/diagnosis ; Prediabetic State ; Carbohydrate Metabolism
Chemical Substances	Blood Glucose ; Glycated Hemoglobin A ; Insulin
Language	English
Publishing date	2022-11-05
Publishing country	Spain
Document type	Journal Article
ISSN	2530-0180
ISSN (online)	2530-0180
DOI	10.1016/j.endien.2021.08.009
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Article ; Online: Increased IGFBP proteolysis, IGF-I bioavailability and pappalysin levels in children with Prader-Willi syndrome.

Barrios, Vicente / Martín-Rivada, Álvaro / Martos-Moreno, Gabriel Á / Canelles, Sandra / Moreno-Macián, Francisca / De Mingo-Alemany, Carmen / Delvecchio, Maurizio / Pajno, Roberta / Fintini, Danilo / Chowen, Julie A / Argente, Jesús

The Journal of clinical endocrinology and metabolism

2023

Abstract: Context: Prader-Willi syndrome (PWS) is associated with impaired growth hormone (GH) secretion and decreased insulin-like growth factor (IGF)-I levels. Pappalysins (PAPP-A, PAPP-A2) and stanniocalcins (STC-1, STC-2) regulate IGF binding-protein (IGFBP) ... ...

Abstract	Context: Prader-Willi syndrome (PWS) is associated with impaired growth hormone (GH) secretion and decreased insulin-like growth factor (IGF)-I levels. Pappalysins (PAPP-A, PAPP-A2) and stanniocalcins (STC-1, STC-2) regulate IGF binding-protein (IGFBP) cleavage and IGF bioavailability, but their implication in PWS is unknown. Objective: We determined serum levels of PAPP-As and STCs in association with IGF axis components in pre- and pubertal patients with PWS, also analyzing the effect of GH treatment. Methods: Forty children and adolescents with PWS and 120 sex- and age-matched controls were included. The effect of GH was evaluated at six months of treatment in 11 children. Results: Children with PWS had lower levels of total IGF-I, total and intact IGFBP-3, acid-labile subunit, intact IGFBP-4, and STC-1, and higher concentrations of free IGF-I, IGFBP-5 and PAPP-A. Patients with PWS after pubertal onset had decreased total IGF-I, total and intact IGFBP-3, and intact IGFBP-4 levels, and increased total IGFBP-4, and STCs concentrations. GH treatment increased total IGF-I, total and intact IGFBP-3, and intact IGFBP-4, with no changes in PAPP-As, STCs and free IGF-I levels. Standardized height correlated directly with intact IGFBP-3 and inversely with PAPP-As and the free/total IGF-I ratio. Conclusion: The increase in PAPP-A could be involved in increased IGFBP proteolysis, promoting IGF-I bioavailability in children with PWS. Further studies are needed to establish the relationship between growth, GH resistance, and changes in the IGF axis during development and after GH treatment in these patients.
Language	English
Publishing date	2023-12-23
Publishing country	United States
Document type	Journal Article
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/clinem/dgad754
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Article ; Online: Identifying subgroups of childhood obesity by using multiplatform metabotyping

David Chamoso-Sanchez / Francisco Rabadán Pérez / Jesús Argente / Coral Barbas / Gabriel A. Martos-Moreno / Francisco J. Rupérez

Frontiers in Molecular Biosciences, Vol

2023 Volume 10

Abstract: Introduction: Obesity results from an interplay between genetic predisposition and environmental factors such as diet, physical activity, culture, and socioeconomic status. Personalized treatments for obesity would be optimal, thus necessitating the ... ...

Abstract	Introduction: Obesity results from an interplay between genetic predisposition and environmental factors such as diet, physical activity, culture, and socioeconomic status. Personalized treatments for obesity would be optimal, thus necessitating the identification of individual characteristics to improve the effectiveness of therapies. For example, genetic impairment of the leptin-melanocortin pathway can result in rare cases of severe early-onset obesity. Metabolomics has the potential to distinguish between a healthy and obese status; however, differentiating subsets of individuals within the obesity spectrum remains challenging. Factor analysis can integrate patient features from diverse sources, allowing an accurate subclassification of individuals.Methods: This study presents a workflow to identify metabotypes, particularly when routine clinical studies fail in patient categorization. 110 children with obesity (BMI > +2 SDS) genotyped for nine genes involved in the leptin-melanocortin pathway (CPE, MC3R, MC4R, MRAP2, NCOA1, PCSK1, POMC, SH2B1, and SIM1) and two glutamate receptor genes (GRM7 and GRIK1) were studied; 55 harboring heterozygous rare sequence variants and 55 with no variants. Anthropometric and routine clinical laboratory data were collected, and serum samples processed for untargeted metabolomic analysis using GC-q-MS and CE-TOF-MS and reversed-phase U(H)PLC-QTOF-MS/MS in positive and negative ionization modes. Following signal processing and multialignment, multivariate and univariate statistical analyses were applied to evaluate the genetic trait association with metabolomics data and clinical and routine laboratory features.Results and Discussion: Neither the presence of a heterozygous rare sequence variant nor clinical/routine laboratory features determined subgroups in the metabolomics data. To identify metabolomic subtypes, we applied Factor Analysis, by constructing a composite matrix from the five analytical platforms. Six factors were discovered and three different metabotypes. ...
Keywords	multiplatform metabolomics ; factor analysis ; data integration ; obesity ; childhood ; leptin-melanocortin pathway ; Biology (General) ; QH301-705.5
Subject code	616
Language	English
Publishing date	2023-12-01T00:00:00Z
Publisher	Frontiers Media S.A.
Document type	Article ; Online
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Article: Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry.

Dahir, Kathryn M / Kishnani, Priya S / Martos-Moreno, Gabriel Ángel / Linglart, Agnès / Petryk, Anna / Rockman-Greenberg, Cheryl / Martel, Samantha E / Ozono, Keiichi / Högler, Wolfgang / Seefried, Lothar

Frontiers in endocrinology

2023 Volume 14, Page(s) 1138599

Abstract: Introduction: Hypophosphatasia (HPP) manifests in adults as fractures/pseudofractures, pain, muscle weakness, and other functional impairments. Better phenotypic disease characterization is needed to help recognize disability and treat patients with HPP. ...

Abstract	Introduction: Hypophosphatasia (HPP) manifests in adults as fractures/pseudofractures, pain, muscle weakness, and other functional impairments. Better phenotypic disease characterization is needed to help recognize disability and treat patients with HPP. Methods: Baseline/pretreatment demographic, clinical characteristic, and patient-reported disability/health-related quality-of-life (HRQoL) data from adults (≥18 y) in the Global HPP Registry (NCT02306720) were stratified by presence of overt skeletal manifestations (skeletal group) versus muscular/pain manifestations without skeletal manifestations (muscular/pain group) and summarized descriptively. Disability was measured using the Health Assessment Questionnaire-Disability Index (HAQ-DI), and HRQoL using the 36-item Short Form Health Survey (SF-36v2). Results: Of 468 adults, 300 were classified into the skeletal group and 73 into the muscular/pain group. The skeletal group had a higher median age at baseline (50.1 vs 44.4 y; Conclusion: Adults with HPP experience similar QoL impairment regardless of skeletal involvement. Registration: https://clinicaltrials.gov/ct2/show/NCT02306720 and https://www.encepp.eu/encepp/viewResource.htm?id=47907, identifier NCT02306720; EUPAS13514.
MeSH term(s)	Adult ; Humans ; Cross-Sectional Studies ; Fractures, Bone ; Hypophosphatasia/complications ; Hypophosphatasia/epidemiology ; Pain ; Quality of Life ; Registries
Language	English
Publishing date	2023-03-27
Publishing country	Switzerland
Document type	Journal Article ; Observational Study ; Research Support, Non-U.S. Gov't
ZDB-ID	2592084-4
ISSN	1664-2392
ISSN	1664-2392
DOI	10.3389/fendo.2023.1138599
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Article: Growth and disease burden in children with hypophosphatasia.

Högler, Wolfgang / Linglart, Agnès / Petryk, Anna / Kishnani, Priya S / Seefried, Lothar / Fang, Shona / Rockman-Greenberg, Cheryl / Ozono, Keiichi / Dahir, Kathryn / Martos-Moreno, Gabriel Ángel

Endocrine connections

2023 Volume 12, Issue 5

Abstract: Objective: Hypophosphatasia, an inborn error of metabolism characterized by impaired bone mineralization, can affect growth. This study evaluated relationships between anthropometric parameters (height, weight, and body mass index) and clinical ... ...

Abstract	Objective: Hypophosphatasia, an inborn error of metabolism characterized by impaired bone mineralization, can affect growth. This study evaluated relationships between anthropometric parameters (height, weight, and body mass index) and clinical manifestations of hypophosphatasia in children. Design: Data from children (aged <18 years) with hypophosphatasia were analyzed from the observational Global Hypophosphatasia Registry. Methods: Anthropometric parameters were evaluated by age group (<2 years and ≥2 years) at assessment. The frequency of hypophosphatasia manifestations was compared between children with short stature (< percentile) and those with normal stature. Results: This analysis included 215 children (54.4% girls). Short stature presented in 16.1% of children aged <2 years and 20.4% of those aged ≥2 years at assessment. Among those with available data (n = 62), height was below the target height (mean: -0.66 standard deviations). Substantial worsening of growth (mean delta height z score: -1.45; delta weight z score: -0.68) occurred before 2 years of age, while in those aged ≥2 years, anthropometric trajectories were maintained (delta height z score: 0.08; delta weight z score: 0.13). Broad-ranging hypophosphatasia manifestations (beyond dental) were observed in most children. Conclusions: Short stature was not a consistent characteristic of children with hypophosphatasia, but growth impairment was observed in those aged <2 years, indicating that hypophosphatasia might affect growth plate activity during infancy. In addition, a broad range of clinical manifestations occurred in those above and below the third percentile for height, suggesting that height alone may not accurately reflect hypophosphatasia disease burden and that weight is less affected than longitudinal growth.
Language	English
Publishing date	2023-04-25
Publishing country	England
Document type	Journal Article
ZDB-ID	2668428-7
ISSN	2049-3614
ISSN	2049-3614
DOI	10.1530/EC-22-0240
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