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1.
Endocrinol Metab (Seoul) ; 39(3): 399-406, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38803289

RESUMO

Apart from basic roles such as supporting the body, protecting internal organs, and storing calcium, the skeletal system also performs hormonal functions. In recent years, several reports have been published on proteins secreted by bones and their impact on the homeostasis of the entire body. These proteins include fibroblast growth factor 23, sclerostin, lipocalin 2, and osteocalcin. Osteocalcin, the most abundant non-collagenous protein in bone tissue, is routinely measured as a clinical marker for diagnosing bone metabolism disorders. Its molecule undergoes numerous transformations, with decarboxylation being the critical process. Decarboxylation occurs in the acidic environment typical of bone resorption, facilitating the release of the molecule into the bloodstream and enabling its hormonal action. Decarboxylated osteocalcin promotes insulin secretion and stimulates the proliferation of pancreatic islet ß-cells. It also plays a role in reducing the accumulation of visceral fat and decreasing fat storage in the liver. Furthermore, decarboxylated osteocalcin levels are inversely correlated with fasting serum glucose levels, total body fat, visceral fat area, and body mass index. Apart from its role in energy metabolism, osteocalcin affects testosterone production and the synthesis of glucagon-like peptide-1. It is also actively involved in muscle-bone crosstalk and influences cognitive function.


Assuntos
Osso e Ossos , Osteocalcina , Animais , Humanos , Osso e Ossos/metabolismo , Osso e Ossos/fisiologia , Osteocalcina/metabolismo
2.
Front Endocrinol (Lausanne) ; 14: 1149982, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37810882

RESUMO

Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to perinatal lethal. The disease is characterized by a heterogeneous genetic background, where approximately 85%-90% of cases have dominantly inherited heterozygous pathogenic variants located in the COL1A1 and COL1A2 genes. This paper presents the results of the first nationwide study, performed on a large cohort of 197 Polish OI patients. Variants were identified using a next-generation sequencing (NGS) custom gene panel and multiplex ligation probe amplification (MLPA) assay. The following OI types were observed: 1 (42%), 2 (3%), 3 (35%), and 4 (20%). Collagen type I pathogenic variants were reported in 108 families. Alterations were observed in α1 and α2 in 70% and 30% of cases, respectively. The presented paper reports 97 distinct causative variants and expands the OI database with 38 novel pathogenic changes. It also enabled the identification of the first glycine-to-tryptophan substitution in the COL1A1 gene and brought new insights into the clinical severity associated with variants localized in "lethal regions". Our results contribute to a better understanding of the clinical and genetic aspects of OI.


Assuntos
Colágeno Tipo I , Osteogênese Imperfeita , Humanos , Colágeno Tipo I/genética , Osteogênese Imperfeita/genética , Polônia/epidemiologia , Cadeia alfa 1 do Colágeno Tipo I , Mutação , Sequenciamento de Nucleotídeos em Larga Escala
3.
Psychiatr Pol ; 56(3): 623-634, 2022 Jun 30.
Artigo em Inglês, Polonês | MEDLINE | ID: mdl-36342989

RESUMO

OBJECTIVES: Osteoporosis is a chronic disease and affects an increasing number of people in the ageing population. Due to its ?quiet' progress, it gradually impacts on the patient's daily functioning, resulting in reduction, then abandoning of existing forms of life activities and deterioration of mental state. The aim of the study was to analyze the levels of disease acceptance and satisfaction with life in women with postmenopausal osteoporosis depending on their body mass index. METHODS: The study included a group of 198 women, 72.3 ± 8.59 years old, diagnosed with postmenopausal osteoporosis treated in two Osteoporosis Treatment Centers in the city of Lodz. The study used the Acceptance of Illness Scale (AIS), the Satisfaction with Life Scale (SWLS), the Visual Analogue Scale (VAS), and a self-made survey. RESULTS: The mean AIS score was 25.95 ± 10.20 points, which indicated a moderate level of acceptance and adjustment to the disease in the study group. The average level of satisfaction with life assessed on the SWLS was 19.37 ± 7.31 points and indicated moderate life satisfaction. The lowest acceptance of the disease (24.38 ± 11.3 points) was presented by underweight persons, while the lowest satisfaction with life (17.75 ± 7.50 points) was presented by overweight women. The subjects presented a mild level of pain according to the VAS scale (4.87 ± 2.39 points). The highest acceptance of the disease and satisfaction with life was presented by normal weight persons. CONCLUSIONS: The levels of disease acceptance and satisfaction with life in women with postmenopausal osteoporosis do not differ statistically significantly depending on body mass index. It was indicated that greater acceptance of the disease was accompanied by greater satisfaction with life in people with osteoporosis. Psychological aspects (AIS, SWLS) should be an important component of the assessment of therapy effectiveness in women undergoing a long-term treatment for postmenopausal osteoporosis.


Assuntos
Osteoporose Pós-Menopausa , Osteoporose , Feminino , Humanos , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Osteoporose Pós-Menopausa/complicações , Osteoporose Pós-Menopausa/diagnóstico , Satisfação Pessoal , Índice de Massa Corporal , Qualidade de Vida/psicologia
4.
Psychiatr Pol ; : 1-14, 2022 May 25.
Artigo em Inglês, Polonês | MEDLINE | ID: mdl-36370434

RESUMO

OBJECTIVES: The aim of the study was to assess the predictors quality of life (QoL) in women with postmenopausal osteoporosis. METHODS: The study was an outpatient, questionnaire-based poll, carried out from June 2018 to May 2019. The study included a group of 198 women, aged 72.31 ± 8.59 years, with diagnosed postmenopausal osteoporosis, treated in two osteoporosis clinics in the city of Lodz (Poland). The inclusion criteria were as follows: a diagnosed osteoporosis in the patients' medical records according to the ICD-10 - M81.0 and no chronic diseases which would require systematic treatment. The paper utilized the following tools: the Polish version of the QUALEFFO-41 quality of life scale, the visual analogue scale (VAS) and the author's own survey. The data were analyzed with the use of the multiple linear regression. Statistical analysis was performed using Statistica 13.0 software. RESULTS: The average result of the QUALEFFO-41 was 40.26 ± 16.92 points. An analysis of particular QUALEFFO-41 domains revealed the lowest quality of life in the mental function domain (48.49 ± 18.06 points). The domain of activities of daily living was assessed twice as well compared to the domain of mental functions. Marital status, education and financial situation had a statistically significant impact on the quality of life (p <0.05). The analysis showed that the pain expressed on the VAS scale, pain waking from sleep, taking sleeping pills, and older age of the respondents deteriorate the quality of life. CONCLUSIONS: The analysis showed that Polish women with postmenopausal osteoporosis enjoy an average quality of life. The quality of life of chronically ill patients and pain severity on the VAS scale are not routinely or commonly assessed in Poland.

5.
Mol Genet Genomic Med ; 10(8): e1996, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35748117

RESUMO

BACKGROUND: Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue with variable phenotype and heterogeneous genetic background. Majority of reported mutations are glycine substitutions, whose clinical outcome ranges from mild to perinatal lethal. The phenotype appears to be influenced by the properties of amino acid side chain and the degree of structural aberration of collagen molecules. Since the genotype-phenotype correlation remains unclear, the severity of mutation is mostly predicted according to previously-reported cases. Although the number of OI variants is constantly expanding, no glycine-to-tryptophan substitutions have been reported in COL1A1 gene. METHODS: A sample from a 15-year-old girl presenting with progressively-deforming OI type III was tested using an NGS custom gene panel. Multiple bioinformatic and interpretation tools, including mutation databases and conservation analysis, were used for variant classification. The presence of the mutation was verified by Sanger sequencing. RESULTS: A novel heterozygous mutation c.733G>T was identified in the COL1A1 gene (p.Gly245Trp). CONCLUSIONS: The discovery of this novel glycine-to-tryptophan substitution located in the COL1A1 gene broadens the spectrum of mutations underlying this rare disease and provides useful information on the clinical outcome of such substitutions.


Assuntos
Osteogênese Imperfeita , Colágeno Tipo I/genética , Cadeia alfa 1 do Colágeno Tipo I , Glicina/genética , Humanos , Osteogênese Imperfeita/genética , Triptofano/genética
6.
Int J Occup Med Environ Health ; 35(3): 273-283, 2022 Jun 08.
Artigo em Inglês | MEDLINE | ID: mdl-34897291

RESUMO

OBJECTIVES: Assessment of the disease acceptance level in women with osteoporosis depending on selected sociodemographic factors. MATERIAL AND METHODS: The study included a group of 198 women, aged M±SD 72.3±8.59 years, diagnosed with postmenopausal osteoporosis and treated in 2 Osteoporosis Treatment Centres in Lódz. A questionnaire survey and Acceptance of Illness Scale (AIS) were applied in the study. Based on the questionnaire, the authors collected sociodemographic data (including age, marital status, place of residence, financial status) which the authors subsequently analyzed using a statistical program. RESULTS: The respondents living in the countryside, with primary education and a very difficult financial situation manifested a low disease acceptance level. The authors have shown that postmenopausal osteoporosis acceptance level significantly depends on the age (p = 0.0024), place of residence (p = 0.0044), education (p < 0.001) and affluence (p = 0.0049), however, it is not related to duration of the disease. CONCLUSIONS: Postmenopausal osteoporosis acceptance level depended on age, place of residence, education and affluence level, however, it was not related to the disease duration. Psychological aspects, including assessment according to the disease acceptance scale, constitute a factor influencing mental health, therefore they should be included in evaluation of therapy effectiveness in patients chronically treated for osteoporosis. Int J Occup Med Environ Health. 2022;35(3):273-83.


Assuntos
Osteoporose Pós-Menopausa , Osteoporose , Idoso , Escolaridade , Feminino , Humanos , Osteoporose Pós-Menopausa/diagnóstico , Osteoporose Pós-Menopausa/psicologia , Fatores Sociodemográficos , Inquéritos e Questionários
7.
Front Genet ; 12: 692978, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34306033

RESUMO

Osteogenesis imperfecta (OI) is a rare genetic disorder demonstrating considerable phenotypic and genetic heterogeneity. The extensively studied genotype-phenotype correlation is a crucial issue for a reliable counseling, as the disease is recognized at increasingly earlier stages of life, including prenatal period. Based on population studies, clusters in COL1A1 and COL1A2 genes associated with the presence of glycine substitutions leading to fatal outcome have been distinguished and named as "lethal regions." Their localization corresponds to the ligand-binding sites responsible for extracellular interactions of collagen molecules, which could explain high mortality associated with mutations mapping to these regions. Although a number of non-lethal cases have been identified from the variants located in lethal clusters, the mortality rate of mutations has not been updated. An next generation sequencing analysis, using a custom gene panel of known and candidate OI genes, was performed on a group of 166 OI patients and revealed seven individuals with a causative mutations located in the lethal regions. Patients' age, ranging between 3 and 25 years, excluded the expected fatal outcome. The identification of non-lethal cases caused by mutations located in lethal domains prompted us to determine the actual mortality caused by glycine substitutions mapping to lethal clusters and evaluate the distribution of all lethal glycine mutations across collagen type I genes, based on records deposited in the OI Variant Database. Finally, we identified six glycine substitutions located in lethal regions of COL1A1 and COL1A2 genes, of which four are novel. The review of all mutations in the dedicated OI database, revealed 33 distinct glycine substitutions in two lethal domains of COL1A1, 26 of which have been associated with a fatal outcome. Similarly, 109 glycine substitutions have been identified in eight lethal clusters of COL1A2, of which 51 have been associated with a fatal manifestation. An analysis of all glycine substitutions leading to fatal phenotype, showed that their distribution along collagen type I genes is not regular, with 17% (26 out of 154) of mutations reported in COL1A1 and 64% (51 out of 80) in COL1A2 corresponding to localization of the lethal regions.

8.
Artigo em Inglês | MEDLINE | ID: mdl-32418417

RESUMO

INTRODUCTION: Type 1 diabetes (T1D) may be associated with numerous complications including bone metabolism disorders. The aim of the study was to evaluate the bone metabolism markers twice in children with a newly diagnosed T1D and after an average of seven months of its duration in relation to parameters of the clinical course of diabetes. MATERIAL AND METHODS: In 100 T1D patients and 52 control subjects, the following bone turnover markers were evaluated: osteocalcin - OC, osteoprotegerin - OPG, sRANKL, and deoxypyridoline in urine - DPD and DXA examination was also performed. RESULTS: Lower OC concentration at T1D onset in comparison to controls (p < 0.001) and its increase during follow-up (p < 0.001) was ob-served. The OPG concentration was elevated at T1D onset as compared to the control group (p = 0.024) and decreased thereafter (p < 0.001). The s-RANKL level increased during follow-up (p < 0.001) and was lower than in controls (p < 0.001). Urine DPD con-centration also increased during follow-up in the T1D patient group (p < 0.001) and was higher in comparison to the control group (p = 0.021). BMD-TBLH was higher in the control group as compared to patients both at T1D onset (p = 0.025) and in follow-up ob-servation (p = 0.034). Moreover, OPG correlated positively with glycated haemoglobin (HbA1c) (p = 0.004) and negatively with fasting C-peptide level (p = 0.046) and BMI Z-score (p = 0.003), whereas s-RANKL correlated positively with both fasting (p < 0.001) and stimulated C-peptide levels (p < 0.001). CONCLUSIONS: Bone metabolism disorders observed at T1D onset in children and modified after reaching the metabolic control of the disease seem to be most strongly associated with preserved insulin secretion.


Assuntos
Diabetes Mellitus Tipo 1/sangue , Secreção de Insulina , Osteocalcina/sangue , Osteoprotegerina/sangue , Ligante RANK/sangue , Adolescente , Densidade Óssea , Criança , Pré-Escolar , Diabetes Mellitus Tipo 1/metabolismo , Diabetes Mellitus Tipo 1/fisiopatologia , Feminino , Humanos , Masculino
10.
Acta Biochim Pol ; 65(1): 79-86, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29543922

RESUMO

Although over 85% of osteogenesis imperfecta (OI) cases are associated with mutations in the procollagen type I genes (COL1A1 or COL1A2), no hot spots for the mutations were associated with particular clinical phenotypes. Eight patients that were studied here, diagnosed with OI by clinical standards, are from the Polish population with no ethnic background indicated. Previously unpublished mutations were found in six out of those eight patients. Genotypes for polymorphisms (Sp1 - rs1800012 and PvuII - rs412777), linked to bone formation and metabolism were determined. Mutations were found in exons 2, 22, 50 and in introns 13 and 51 of the COL1A1 gene. In COL1A2, one mutation was identified in exon 22. Deletion type mutations in COL1A1 that resulted in OI type I had no effect on collagen type I secretion, nor on its intracellular accumulation. Also, a single base substitution in I13 (c.904-9 G>T) was associated with the OI type I. The OI type III was associated with a single base change in I51 of COL1A1, possibly causing an exon skipping. Also, a missense mutation in COL1A2 changing Gly→Cys in the central part of the triple helical domain of the collagen type I molecule caused OI type III. It affected secretion of the heterotrimeric form of procollagen type I. However, no intracellular accumulation of procollagen chains could be detected. Mutation in COL1A2 affected its incorporation into procollagen type I. The results obtained shall help in genetic counseling of OI patients and provide a rational support for making informed, life important decisions by them and their families.


Assuntos
Colágeno Tipo I/genética , Mutação , Osteogênese Imperfeita/genética , Cadeia alfa 1 do Colágeno Tipo I , Éxons , Humanos , Íntrons , Osteogênese , Polimorfismo Genético , Pró-Colágeno/metabolismo
11.
Neuromuscul Disord ; 25(8): 661-6, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26028276

RESUMO

Infantile X-linked spinal muscular atrophy (SMAX2) is a rare form of spinal muscular atrophy manifesting as severe hypotonia, areflexia, arthrogryposis, facial weakness and cryptorchidism, and frequently accompanied by bone fractures. We present a male patient with SMAX2 who presented with typical symptoms at birth, preceded by reduced fetal movements in the second and third trimesters of pregnancy. Clinical examination revealed a myopathic face with a characteristic tent-shaped open mouth, tongue fibrillations, profound muscle weakness, areflexia, multiple contractures, mild skeletal abnormalities and cryptorchidism. In the first days of the patient's life, fractures of the right femur and right humerus were found; however, calcium-phosphate metabolism and densitometric examination were normal. Molecular analysis revealed a de novo c.1731C>T substitution in the UBA1 gene, which was localized in exon 15, the specific hot spot for mutation.


Assuntos
Artrogripose/diagnóstico , Artrogripose/genética , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Enzimas Ativadoras de Ubiquitina/genética , Artrogripose/complicações , Fraturas Ósseas/congênito , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Humanos , Recém-Nascido , Masculino , Mutação
12.
Wiad Lek ; 68(3 pt 2): 406-409, 2015.
Artigo em Polonês | MEDLINE | ID: mdl-28501843

RESUMO

Alagille syndrome is a multiorgan disorder, which especially manifests itself with cholestasis, characteristic facial features, circulatory systems defects, defects of the front segment of the eye, dysplastic changes in bones and kidneys and impaired angiogenesis.The disease is caused by Jagged 1 gene mutation (JAG, 20p12 chromosome) which encodes ligand for Notch receptor. JAG/ Notch signaling pathway plays important evolutionary role in cell differentiation in organogenesis process . JAG1 expression in numerous tissues leads to multiorganic manifestation. Jagged 1 expression is substantially important for skeleton growth and bone cells activity. Its malfunction may lead to spine and long bones abnormalities, neoplastic changes and osteoporosis. In this case report authors present clinical (long bone fractures) and biochemical manifestations and densitometric abnormalities ( decrease of bone mineral density) in 10 years old boy with Alagille syndrome. Densitometry is suggested to be a good method in early detection of mineralization disturbances in chronic cholestasis and permanent monitoring of changes in bone structure is also very important.

13.
Postepy Hig Med Dosw (Online) ; 67: 873-8, 2013 Aug 23.
Artigo em Inglês | MEDLINE | ID: mdl-24018452

RESUMO

UNLABELLED: Genetic and environmental factors have an influence on the process of growth and development of the body. One of numerous genetic factors can be the vitamin D receptor gene (VDR). The study aimed at evaluating the relationship between VDR polymorphism and somatic parameters in children. PATIENTS AND METHODS: The study group consisted of 395 children, aged 6-18 years. All the patients underwent gene typing using the PCR-RFLP method within polymorphic loci BsmI (rs1544410), FokI (rs2228570), ApaI (rs7975232) and TaqI (rs731236) of the VDR receptor gene. 294 children made up the control group in the study on the incidence of particular genotypes; in 161 patients somatic measurements of body weight and height were made with standard methods and skeletal densitometry (total body and spine programmes) examination was performed. Statistica 10.0 PL was used for statistical analysis. RESULTS: In patients with low bone mass a relationship between body height and FokI VDR polymorphism was noted. The p-value was statistically significantly different in group I (p=0.002) and borderline significant in group III (p=0.09). None of the polymorphisms of the VDR receptor gene demonstrated any statistically significant differences in anthropometric values in the control group and in children with osteoporosis. SUMMARY: The presence of the F allele of FokI polymorphism of the VDR receptor gene results in increased height, which is best observed in children with low bone mass. The FF genotype favours increased height in the study group of children from Lódz.


Assuntos
Estatura/genética , Polimorfismo Genético , Receptores de Calcitriol/genética , Adolescente , Densidade Óssea/genética , Criança , Feminino , Genótipo , Humanos , Masculino , Polônia
14.
Adv Clin Exp Med ; 21(1): 99-104, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23214306

RESUMO

OBJECTIVES: The aim of the work was an objective assessment of the quality of life of parents of children with osteogenesis imperfecta (OI) and of its determinant factors. MATERIAL AND METHODS: The survey answers of 25 parents were analyzed and contained demographic parameters, socioeconomic status information, quality of life of responses and type of support they have been receiving. In order to assess the effects of this children's disease on the quality of life of the parents, families were divided into two groups depending on the OI severity: group M--mild (type I and IV OI), group S--severe (type III OI). The objective of the work was carried out based on the WHOQOL-BREF quality of life questionnaire and measures of family status: education degree based on the International Standard Classification of Education (ISCED), a subjective assessment of the family's wealth (Perceived Family Wealth, PFW), and the family's financial resources (Family Affluence Scale, FAS). RESULTS: 56% of respondents assessed their global quality of life (Quality of Life, QL) as good, whereas 8% answered poor. Perception of general health status was similar. Life domains assessed in the WHOQOL-BREF questionnaire received the following mean values on a scale from 4 to 20 points: physical--12.2 +/- 1.2, psychological--15.04 +/- 2.2, environmental--13.32 +/- 2, social relationships--14.28 +/- 1.5. In the severe OI group, the environmental domain was assessed as worse than in the mild OI group and this assessment was statistically significant, despite the fact that the group of families with severe cases of OI received more support from the appropriate institutions. Indicators of socioeconomic status did not affect the respondents' assessment of their global quality of life. CONCLUSIONS: In the tested group of families, the child's disease did not affect either the global quality of life assessment or health of the respondents or their quality of life in terms of physical and mental status and social relationships. The parents of children with severe OI assessed the life domain associated with the environment they live in as worse than the parents of children with mild OI. The global quality of life assessment of the respondents did not depend on the family's socioeconomic status and on the help they have been receiving with regard to care for the child.


Assuntos
Osteogênese Imperfeita/psicologia , Pais/psicologia , Qualidade de Vida , Adaptação Psicológica , Distribuição de Qui-Quadrado , Efeitos Psicossociais da Doença , Escolaridade , Saúde da Família , Humanos , Renda , Relações Interpessoais , Osteogênese Imperfeita/diagnóstico , Percepção , Polônia , Índice de Gravidade de Doença , Inquéritos e Questionários
15.
Przegl Lek ; 69(4): 139-42, 2012.
Artigo em Polonês | MEDLINE | ID: mdl-23029707

RESUMO

UNLABELLED: Fractures of long bone and ribs in the neonatal period may be expression of genetic disturbances of collagen type I production. The aim of the study was to present clinical symptoms, results of radiological, biochemical and densitometric examinations in 11 newborns with osteogenesis imperfecta type III. METHODS: In all children accurate medical history, clinical examination and radiograph were performed. We measured concentration of 25-hydroxyvitamin D (25OHD) and osteocalcin (bone formation marker) in serum. Urinary excretion of bone resorption marker type I collagen N-telopeptide related to creatinine were made. In 5/11 children densitometric examination in Infant programme by DXA method (dual-X-ray absorptiometry) were done. RESULTS: In all family osteogenesis imperfecta occurred by the first. In clinical examination deformities in body proportion, shortness of the extremities, sabre shanks, flabbily of skull bones and reduction of activity were diagnosed. 8/11 newborns had blue sclera. In all X-ray (baby-gram) bone fractures occurring in utero as well as after birth were founded. In biochemical indices a small numbers of abnormality were described. In 5/11 newborns with results of densitometric examination normal bone mineral density adequate to body mass were demonstrated, in 3/5 bone mineral content (BMC) were decreased. CONCLUSION: 1.Osteogens esis imperfecta is the one of reasons of bone fractures in neonates and its diagnosis is based on family history, clinical manifestation and X-ray examination. 2. In newborns with bone fractures dual X-ray absorptiometry are recomendated.


Assuntos
Osteogênese Imperfeita/sangue , Osteogênese Imperfeita/diagnóstico , Absorciometria de Fóton , Biomarcadores/sangue , Biomarcadores/urina , Colágeno Tipo I/urina , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Anamnese , Osteocalcina/sangue , Osteogênese Imperfeita/urina , Peptídeos/urina , Vitamina D/análogos & derivados , Vitamina D/sangue
16.
Mol Biol Rep ; 39(5): 6243-50, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22422157

RESUMO

To determine the relationship between the polymorphism of vitamin D receptor gene and the bone mineral density in children. The study group consisted of 395 children aged 6-18 years. All patients underwent genotyping using the PCR-RFLP method within polymorphic loci BsmI (rs1544410), FokI (rs2228570), ApaI (rs7975232) and Taq I (rs731236) of the VDR gene. The BMD (g/cm(2), Z score) and BMC (g, Z score) by DXA method, as well as Z scores of the BUA, SOS and Stiffness ultrasound parameters were evaluated. Based on densitometry results, children were divided into 3 groups: I-Z score ± 1.0; II-Z score from -1.1 to -2.0; and III-Z score ≤ -2.1. A control group numbering 294 children was used for the purpose of allele frequency comparisons. The occurrence of studied polymorphism alleles in the control group did not significantly differ from the values expected according to the Hardy-Weinberg equilibrium (p values: 0.1224 for BsmI; 0.5958 for TaqI; 0.0817 for ApaI; and 0.8901 for FokI). Allele a ApaI carrier status in group III children was associated with an increased BMD (x = 0.8 vs 0.69, p = 0.0296) and BMC value (x = 28.76 vs 22.14, p = 0.0565) in spine projection results, Stiffness (x = -1.12 vs -1.91, p = 0.0347) and SOS (x = -1.43 vs -2.27, p = 0.0319) ultrasound parameters. In group II, significantly increased SOS values (-1.13 vs -1.73, p = 0.0378) were noted in f (FokI) carriers. The presence of aa ApaI and ff FokI polymorphisms favours a higher bone mass and better bone structure (decreased bone mass loss) in the analysed group.


Assuntos
Densidade Óssea/genética , Variação Genética , Receptores de Calcitriol/genética , Adolescente , Alelos , Criança , Densitometria , Feminino , Heterozigoto , Humanos , Masculino , Ultrassonografia
17.
Ginekol Pol ; 82(11): 862-5, 2011 Nov.
Artigo em Polonês | MEDLINE | ID: mdl-22384621

RESUMO

The aim of the paper was to present symptoms and results of biochemical and densitometric examination in a 17-year-old girl. The girl had yolk sac tumor at the age of 12, in course of which she developed secondary osteoporosis.


Assuntos
Tumor do Seio Endodérmico/patologia , Tumor do Seio Endodérmico/terapia , Osteoporose/patologia , Densidade Óssea , Criança , Tumor do Seio Endodérmico/complicações , Feminino , Humanos , Osteoporose/etiologia , Osteoporose/terapia , Polônia
18.
Ortop Traumatol Rehabil ; 12(3): 257-63, 2010.
Artigo em Inglês, Polonês | MEDLINE | ID: mdl-20693580

RESUMO

Diastrophic dysplasia is a rare genetic disorder characterised by short limbs and deformities of several joints occurring in conjunction with abnormal spinal curvatures, impaired metacarpal modelling and so-called hitchhiker thumbs. The condition is progressive and leads to considerable physical disability. It continues to constitute a challenge for doctors as the outcomes of corrective orthopaedic surgery are limited. The aim of this paper is to present the course of diastrophic dysplasia in a 7-year-old girl who also experienced cervical spine luxation with signs of compression of the spinal cord and carotid arteries. We describe deformities of the motor organs present in the patient and characteristic of diastrophic dysplasia, and the findings of specialised accessory investigations. The example of evaluation for bone disorders is used to draw attention to the principles of interpretation of densitometry measurements in a patient with impaired somatic development.


Assuntos
Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/patologia , Criança , Feminino , Humanos , Deformidades Congênitas dos Membros/diagnóstico por imagem , Vértebras Lombares/diagnóstico por imagem , Exame Neurológico , Radiografia , Compressão da Medula Espinal/diagnóstico por imagem
19.
Pol Merkur Lekarski ; 26(156): 605-8, 2009 Jun.
Artigo em Polonês | MEDLINE | ID: mdl-19711725

RESUMO

UNLABELLED: Despite so many advantages of natural feeding, according to the research led in Poland between 2000 and 2005, in the sixth month of life only 8% of infants were strictly breast-fed. The aim of the study was to analyze the factors which have the influence on choosing the way of feeding of children hospitalized in the Department of Pediatric Propedeutics and Bone Metabolism Diseases. MATERIAL AND METHODS: The inquiry was established among parents of newborns and infants up to 1 year old, hospitalized in the Department of Pediatric Propedeutics and Bone Metabolism Diseases between January and May 2008. The research was led on the group of 93 children (39 newborns and 54 infants). The inquiry consists of questions about the cause and duration of hospitalization, perinatal interview, ways of nourishment and parents' personal data. RESULTS: At the time of leading the inquiry 27 children (29%) were fed strictly naturally, 36 (38.7%) were bottle-fed, 23 (24.73%) were fed in the mixed way, 6 (6.5%) were fed by the stomach tube and 1 child (1.1%) was fed parenterally. 44.1% of parents obtained information about breast-feeding from media, whereas only 3 (3.2%) got it from medical staff. The most common reason for giving up breast feeding was the lack (or too little amounts) of mother's milk. The doctor appeared to be the main person who decided to introduce formula-feeding. Among children naturally-fed 21 (77.8%) were given formula in the first twenty-four hours after the labour. The factors which appeared to influence the choice of the way of alimentation, in statistically important way (p < 0.05), were: birth weight, points in Apgar scale, moment of the delivery, mother's age and whether she was breast-fed as a child. CONCLUSIONS: In the researched group only 29% of children, up to 1 year old, were fed strictly naturally. The results suggest that the medical staff (especially doctors) has too little influence on promoting breast feeding as the most appropriate way of alimentation. The health care system (perinatal, labour and basic care) concerning mother and child, doesn't promote natural feeding.


Assuntos
Hospitalização/estatística & dados numéricos , Fenômenos Fisiológicos da Nutrição do Lactente , Alimentação com Mamadeira/estatística & dados numéricos , Aleitamento Materno/estatística & dados numéricos , Feminino , Educação em Saúde , Humanos , Lactente , Recém-Nascido , Tempo de Internação , Masculino , Nutrição Parenteral , Relações Médico-Paciente , Polônia
20.
Artigo em Polonês | MEDLINE | ID: mdl-20455419

RESUMO

INTRODUCTION: In the last decades the prevalence of overweight and obesity in pediatric population has increased. The cardiovascular diseases and type 2 diabetes are the consequences of fat tissue disturbances, so measurements of body fat in children might be expedient. Aim of the study was to compare the results of percent body fat measured on bioelectric impedance (BIA) and anthropometric method with reference method--dual-energy X-ray absorptiometry (DXA). MATERIAL AND METHODS: 56 children at the age 6-18 years were included into the study. In all children height, weight, waist circumference and skinfolds were measured. BMI SDS and WC SDS were calculated. Percent body fat was estimated by DXA, BIA and anthropometric method. DXA was performed using total body program with Lunar Corporation apparatus BIA was made with an eight-electrode system. The anthropometric method was performed according to Slaughter's algorithm. RESULTS: Correlation index between DXA and BIA was r2 = 0.83, and between DXA and Slaughter's algorithm - r2 = 0.83 (p < 0.001). All methods had high precision, but the differences between results obtained by three methods were observed. BIA and Slaughter's algorithm commonly lowered %BF, and underestimation become greater with values of this variable. The differences between results obtained by BIA and Slaughter's algorithm in comparison to DXA negatively correlated with BMI SDS and WC SDS. There was no relationship with patient age. CONCLUSIONS: Usage of BIA or Slaughter's method for estimating percent body fat in children allows to obtain accurate results, but lower in comparison to results obtained on DXA. Because ofthis the same method must be used to monitor changes in %BF.


Assuntos
Absorciometria de Fóton/métodos , Adiposidade , Pesos e Medidas Corporais/métodos , Impedância Elétrica , Adolescente , Algoritmos , Criança , Feminino , Humanos , Masculino
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