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Avaliação genética de pacientes com osteoporoseTayar, Giullianna [UNESP] 07 August 2006 (has links) (PDF)
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tayar_g_me_sjrp.pdf: 647193 bytes, checksum: c93976b0eb63a8369134ef80302ad964 (MD5) / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) / Universidade Estadual Paulista (UNESP) / A osteoporose é uma doença metabólica, que se caracteriza por baixa massa e deterioração do tecido ósseo, conduzindo à fragilidade do osso com conseqüente aumento do risco de fraturas. O início da doença é influenciado por uma complexa interação entre fatores genéticos e ambientais, que pode afetar diferentemente os indivíduos. Por essa razão, faz-se necessário o estudo dos polimorfismos dos genes associados ao metabolismo ósseo, como os do Receptor para Vitamina D (VDR) e da Apolipoproteína E (APOE), além dos envolvidos no biometabolismo de agentes ambientais, como as Glutatião-S-Transferases (GSTs). Foram estudados 53 pacientes, homens e mulheres, com osteoporose e ou osteopenia, pareados por sexo e faixa etária com um grupo controle. O DNA foi extraído de leucócitos de sangue periférico e amplificado por Reação em Cadeia da Polimerase (PCR). Os polimorfismos GSTM1 e GSTT1 foram analisados em gel de agarose 2%, enquanto os da APOE e VDR foram submetidos à restrição enzimática com as enzimas Hha I e Fok I, respectivamente, seguido da análise em gel de poliacrilamida 6%, corados com brometo de etídeo e visualizados em luz UV. A análise estatística dos dados foi realizada, utilizando-se o teste t, teste de Fisher, a regressão multivariada e o teste de equilíbrio de Hardy-Weinberg. O genótipo nulo (0/0) de GSTM1 mostrou-se significantemente mais freqüente nos pacientes (64,1%) comparado ao dos controles (37,7%; P= 0,00112). Por outro lado, pacientes e controles não diferiram quanto à presença (+/+) e ausência (0/0) do gene GSTT1 (P=0,5328). A distribuição genotípica do polimorfismo VDR – Fok I revelou freqüência significantemente aumentada do genótipo ff nos pacientes (22,6%; P=0,0078). Para o gene da APOE, o alelo e3 foi significantemente mais freqüente nos controles (0,85; P=0,0431), enquanto... / Osteoporosis is a metabolic disease characterized by low body mass and bone deterioration, leading to bone fragility with the consequent increase of fractures risk. The disease onset is influenced by a complex interaction between genetic, and environment factors that can affect differently the individuals’ response. Therefore, the study of polymorphisms regarding the genes involved in bone metabolism is of upgrade necessity, such as the Vitamin D Receptor gene (VDR), Apolipoprotein E (APOE), besides the genes involved in xenobiotic metabolism, it means, the Glutathion-S-Transferases (GSTs). We have studied 53 patients, men and women, with osteoporosis and/or osteopenia, matched by gender and age with a control group. The DNA was extracted from peripheral blood lymphocytes and amplified through Polimerase Chain Reaction (PCR). GSTM1, and GSTT1 polymorphisms were analyzed in 2% agarose gel, while APOE, and VDR had been submitted to enzymatic restriction with Hha I and Fok I enzymes, respectively, followed by the analysis in 6% polyacrilamide gel, stained with ethidium bromide and visualized under UV light. The statistic analysis was carried on using test t, test of Fisher, the multi-varied regression and the test of Hardy-Weinberg balance. The GSTM1 null genotype (0/0) was significantly more frequent in patients (64.1%) compared to the controls (37.7%; P= 0.00112). On the other hand, patients, and controls did not differ concerning the presence (++) and absence (0/0) of GSTT1 gene (P=0.5328). The genotypic distribution of VDR –Fok I polymorphism showed a significantly increased frequency of the genotype ff in patients (22.6%; P=0.0078). For the APOE, the allele e3 was significantly more frequent in controls (0.85; P=0.0431), while the allele e4 was in patients (0.20; P=0.0075). The genotype...(Complete abstract click electronic access below)
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Fracture Rates in Adults with Neurofibromatosis Type 1Azage, Meron Y., B.S. 17 September 2012 (has links)
No description available.
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Avaliação genética de pacientes com osteoporose /Tayar, Giullianna January 2006 (has links)
Resumo: A osteoporose é uma doença metabólica, que se caracteriza por baixa massa e deterioração do tecido ósseo, conduzindo à fragilidade do osso com conseqüente aumento do risco de fraturas. O início da doença é influenciado por uma complexa interação entre fatores genéticos e ambientais, que pode afetar diferentemente os indivíduos. Por essa razão, faz-se necessário o estudo dos polimorfismos dos genes associados ao metabolismo ósseo, como os do Receptor para Vitamina D (VDR) e da Apolipoproteína E (APOE), além dos envolvidos no biometabolismo de agentes ambientais, como as Glutatião-S-Transferases (GSTs). Foram estudados 53 pacientes, homens e mulheres, com osteoporose e ou osteopenia, pareados por sexo e faixa etária com um grupo controle. O DNA foi extraído de leucócitos de sangue periférico e amplificado por Reação em Cadeia da Polimerase (PCR). Os polimorfismos GSTM1 e GSTT1 foram analisados em gel de agarose 2%, enquanto os da APOE e VDR foram submetidos à restrição enzimática com as enzimas Hha I e Fok I, respectivamente, seguido da análise em gel de poliacrilamida 6%, corados com brometo de etídeo e visualizados em luz UV. A análise estatística dos dados foi realizada, utilizando-se o teste t, teste de Fisher, a regressão multivariada e o teste de equilíbrio de Hardy-Weinberg. O genótipo nulo (0/0) de GSTM1 mostrou-se significantemente mais freqüente nos pacientes (64,1%) comparado ao dos controles (37,7%; P= 0,00112). Por outro lado, pacientes e controles não diferiram quanto à presença (+/+) e ausência (0/0) do gene GSTT1 (P=0,5328). A distribuição genotípica do polimorfismo VDR - Fok I revelou freqüência significantemente aumentada do genótipo ff nos pacientes (22,6%; P=0,0078). Para o gene da APOE, o alelo e3 foi significantemente mais freqüente nos controles (0,85; P=0,0431), enquanto...(Resumo completo, clicar acesso eletrônico abaixo) / Abstract: Osteoporosis is a metabolic disease characterized by low body mass and bone deterioration, leading to bone fragility with the consequent increase of fractures risk. The disease onset is influenced by a complex interaction between genetic, and environment factors that can affect differently the individuals' response. Therefore, the study of polymorphisms regarding the genes involved in bone metabolism is of upgrade necessity, such as the Vitamin D Receptor gene (VDR), Apolipoprotein E (APOE), besides the genes involved in xenobiotic metabolism, it means, the Glutathion-S-Transferases (GSTs). We have studied 53 patients, men and women, with osteoporosis and/or osteopenia, matched by gender and age with a control group. The DNA was extracted from peripheral blood lymphocytes and amplified through Polimerase Chain Reaction (PCR). GSTM1, and GSTT1 polymorphisms were analyzed in 2% agarose gel, while APOE, and VDR had been submitted to enzymatic restriction with Hha I and Fok I enzymes, respectively, followed by the analysis in 6% polyacrilamide gel, stained with ethidium bromide and visualized under UV light. The statistic analysis was carried on using test t, test of Fisher, the multi-varied regression and the test of Hardy-Weinberg balance. The GSTM1 null genotype (0/0) was significantly more frequent in patients (64.1%) compared to the controls (37.7%; P= 0.00112). On the other hand, patients, and controls did not differ concerning the presence (++) and absence (0/0) of GSTT1 gene (P=0.5328). The genotypic distribution of VDR -Fok I polymorphism showed a significantly increased frequency of the genotype ff in patients (22.6%; P=0.0078). For the APOE, the allele e3 was significantly more frequent in controls (0.85; P=0.0431), while the allele e4 was in patients (0.20; P=0.0075). The genotype...(Complete abstract click electronic access below) / Orientador: Nívea D T Conforti Froes / Coorientador: Dorotéia Rossi Silva / Banca: Adriana Madeira Alvares da Silva / Banca: Eny Maria Goloni Bertollo / Mestre
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Factors Impacting Bone Mineral Density (BMD) Results of Individuals with Intellectual and Developmental Disabilities (IDD)McNabb, Rhonda 01 May 2018 (has links)
Individuals with intellectual and developmental disabilities (IDD) are prone to certain diseases in their lifetime, such as osteoporosis. Absorption of calcium is essential to maintaining good bone health and preventing osteoporosis. This study examined primary care providers’ (PCPs) choice of calcium supplementation, as well as type of calcium supplementation, and the relationship between variables in the IDD population. Ten PCPs were asked to complete a 14-question web-based survey, with five surveys completed. Calcium citrate was the preferred supplement among respondents at 50%. Retrospective data was collected from patient records and included type of calcium supplement prescribed, bone density test results, and other variable factors. The type of calcium supplement prescribed did not affect bone density results in subjects with IDD. There was a weak significance between calcium supplement type and gender and vitamin D. It is of modest benefit to include vitamin D with calcium supplementation to enhance calcium absorption.
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Factors in secondary prevention subsequent to distal radius fracture : Focus on physical function, co-morbidity, bone mineral density and health-related quality of lifeNordvall, Helena January 2009 (has links)
In Sweden approximately 25000 distal radius fractures occur annually, which is 37 % of all fractures related to osteoporosis. In this thesis, risk factors for osteoporosis, bone mineral density (BMD) and health-related quality of life (the SF-36) were compared in patients who suffered a distal radius fracture after low energy trauma with a control group matched on the basis of age, gender, and municipality of residence. The aim was also to analyse, among these patients, whether a risk factor questionnaire, tests on dynamic and static balance and a one-leg rise test could identify those, who have osteopenia or osteoporosis, and run a risk of new falls. Moreover, in a three-year follow-up, mortality, the need for in- and outpatient care, and health-related quality of life after radius fracture were investigated and compared between the patients and matched controls. Finally, the effect of a preventive intervention program including patient education and self-training was evaluated. Falls were reported in a risk factor questionnaire and in a fall diary. The patients aged 45-64 years showed lower, although not statistically significant, BMD, compared with the controls of the same age, but there was no difference concerning their history of falls. In contrast, the patients aged 64 years or older had a history of falling more often than the corresponding controls, but no difference in BMD was found. For all other risk factors, except falls, no differences were found between the patients and the controls. The results of the one-leg rise test were associated with those of dynamic and static balance, but none of the functional tests were associated with the number of falls. Decreased height and cigarette smoking were the only risk factors, which predicted osteopenia and osteoporosis. Five patients, although none of the controls, died during the study time. The patients needed statistically significantly more episodes as inpatients than the controls. The patients also had lower SF-36, Role Physical scores, than the controls at three months. This difference disappeared by the time of the follow-up. Both the patients, who participated in a four-week intervention program, “the osteoporosis school” followed by a one-year home-based exercise program, and the controls showed statistically significantly improved dynamic and static balance, ability to walk backwards and to stand on one leg with eyes open and closed at the end of the study. However, no significant differences were found between the patients and the controls in any of the tests, in BMD or in the number of the falls. The thesis shows that, except for the falls in patients aged over 64 years, there were no significant differences between patients and controls with respect to BMD and other risk factors related to osteoporosis. Consequently, in patients aged 45-64 years and older, the underlying cause of a distal radius fracture is more related to falls than to osteoporosis. Furthermore, the thesis shows that the functional tests and the risk factor questionnaire seem to be of limited value for identifying 8 people with a radius fracture, who are at risk of falling or have osteopenia or osteoporosis. If, in spite of this, functional tests on musculoskeletal function are considered for testing of functional ability in patients with a recent radius fracture, the one leg-rise test may be sufficient. There seems to be an increased mortality and morbidity necessitating inpatient care among patients with a recent radius fracture. The osteoporosis school had no significant effect on BMD, balance, muscle strength or falls in this thesis. Therefore, the lack of proven efficacy of the osteoporosis school for the secondary prevention of distal radius fractures highlights the need for more and long-term randomised controlled follow-up studies in this specific population.
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Community-based osteoporosis prevention: Physical activity in relation to bone density, fall prevention, and the effect of training programmes : The Vadstena Osteoporosis Prevention ProjectGrahn Kronhed, Ann-Charlotte January 2003 (has links)
This thesis is based on studies of the ten-year community-based intervention programme entitled, the Vadstena Osteoporosis Prevention Project (VOPP). The specific aims of the research were to describe the effects of physical activity and training programmes on bone mass and balance performance in adults, to determine whether a fall risk prevention programme could motivate personal actions among the elderly, to ascertain whether the intervention programme could reduce the incidence of forearm and hip fractures. Two studies addressed training programmes for middle-aged and old people. First, VOPP participants who were aged 40–70 years and had low forearm bone mineral density (BMD) values were invited to take part in a one-year weight-bearing training study. Thirty of those individuals were included in the investigation. Additional bone mass measurements were performed at the hip and the lumbar spine, and balance and aerobic capacity were also tested. The training programme was performed twice a week (I). In the second study, healthy persons aged 70–75 years were invited to participate in a balance-training study. Fifteen persons joined an exercise group, and another fifteen were controls. The training programme comprised specific balance exercises and was carried out twice a week for nine weeks (II). The association between forearm BMD values and several lifestyle factors was explored in random samples of the population aged 20–72 years (n=880) in a cross-sectional study (III). Another study explored the association between calcaneal stiffness, forearm BMD, and lifestyle factors amongst participants aged 20–79 years (n=956) at the final registration of the VOPP (V). Effects of the VOPP interventions directed at environmental risk factors for falls and the promotion of physical activity were examined in people aged ≥ 65 years (IV). The incidence of forearm and hip fractures was studied amongst middle-aged and elderly individuals in the intervention and the control communities during the study period 1987–2001 (VI). The exercise group (n=15) in the weight-bearing training study showed increases in BMD at the greater trochanter (p<0.01), one-leg stance balance with the eyes closed and coordination tests (p<0.05), and aerobic capacity (p<0.05). No significant difference was found when the groups were compared concerning changes in the different tests during the intervention period (I). In the balance-training study, the exercise group showed post-training improvement in the following tests: standing on the right leg with eyes closed (p<0.01), standing on the right leg (p<0.01) and on the left leg (p<0.05) while turning the head, and walking 30 metres (p<0.01). There were significant differences between the groups in these tests when changes were compared at the post-intervention test (II). Age (p<0.0001) and body mass index (p≤.0001) were associated with forearm BMD in both sexes. Reported moderate physical activity levels in men were positively associated with forearm BMD (p<0.05) (III). In both sexes, reported moderate (p<0.05) and high (women p<0.05 and men p<0.001) physical activity levels were positively associated with calcaneal stiffness. The correlation coefficient between forearm BMD and calcaneal stiffness was 0.58 in women and 0.34 in men (V). Persons aged ≥ 65 years at the follow-up in 1994 reported more use of shoe/cane spikes and moderate physical activity levels compared to controls (IV). There was no change in the general incidence of forearm and hip fractures between the communities for the study period. However, there was a tendency towards decreasing incidence of forearm and trochanteric hip fracture in both sexes during the late intervention period in the intervention community (VI). A community-based intervention programme aimed at reducing the incidence of osteoporotic fractures must be regarded as a long-term project and should preferably be monitored over an extended post-intervention period. / On the day of the public defence the statuses of articles IV and V were Submitted and VI was Manuscript
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Skeletal Consequences of Crohn's Disease: The Muscle-Bone RelationshipNaomi Lee Unknown Date (has links)
Metabolic bone disease is a frequent complication of Crohn’s disease (CD) with the pathogenesis of reduced bone mass in CD reported to include body weight, disease severity, disease treatments and surgery, physical activity and nutritional status. To date, there have been no studies to examine the prevalence of osteopenia and osteoporosis in an Australian CD population. Similarly, the roles of disease state and treatment, lifestyle factors and the role of body composition in the development of bone loss in CD have not been examined in an Australian CD cohort to date. This thesis has sought, for the first time, to determine the prevalence and severity of bone loss in an Australian CD population and to examine the relationship between various clinical, genetic, lifestyle and treatment variables. The role of body composition in bone loss was assessed by close examination of the muscle-bone relationship by dual-energy X-ray absorptiometry (DXA) and the local muscle-bone unit by peripheral quantitative computed tomography (pQCT) so that informed targeted treatment strategies may be implemented. Study 1 assessed the prevalence of bone loss and both molecular and clinical risk factors for bone loss in a large Crohn’s disease population. Bone mineral density (BMD) data were combined with clinical information and correlated with single nucleotide polymorphisms within the TNF-α, interleukin-10, and NOD2/CARD15 genes. Study 2 examined the independent effects of body composition and muscle strength on regional and whole body BMD in a cohort of CD patients to determine their relative importance to bone strength in this population. Study 3 used pQCT for the first time in a CD population to assess the functional muscle-bone unit in order to determine if the high prevalence of low bone mass reported in CD patients is mediated by altered body composition, in particular muscle mass and strength. Study 1 revealed 45% of CD patients had previously been diagnosed with osteopenia and 18% with osteoporosis. Both the TNF-α “GT” haplotype and the -857 “CC” genotype showed strong associations with bone mineral density overall (p=0.003 and p=0.002, respectively). Body mass index (p=0.01) and previous bowel resection in females (p=0.03) were predictive of a higher spine bone density, whilst body mass index (p=0.003) and the effect of years since first bowel resection (p=0.02) remained independent predictors of proximal femur bone mineral density. When bone mineral density was assessed in Study 2, the prevalence of osteopenia and osteoporosis was 32% and 17%, respectively, with osteopenia more common at the hip and osteoporosis more common at the spine. In multiple regression analyses, appendicular muscle mass was an independent predictor of whole body and regional BMD while lean mass was an independent predictor at the hip. Neither grip strength nor fat mass were independently associated with BMD. Of the components of body composition, muscle mass was strongly associated with regional and whole body bone mineral density. When the muscle-bone unit was assessed using pQCT in Study 3 to further examine this relationship, CD patients demonstrated lower tibial shaft mass, tibial shaft cortical cross-sectional area, and proximal tibia bone mineral density than similarly aged healthy controls. CD subjects also had significantly lower areal bone mineral density by DXA than controls at the total body (P=0.038) and hip (P=0.019). There were no significant differences between groups for any of the muscle-bone indices assessed, such as bone mineral content/muscle cross-sectional area and bone cross sectional area / muscle strength. Together, these studies have demonstrated a high prevalence of metabolic bone disease in an Australian CD population. We were able to identify a novel protective association between a TNF-α haplotype and bone mineral density and also confirmed the importance of body mass index and intestinal resection on bone loss in this population. Furthermore, these studies indicated that lean mass, and more specifically muscle mass, was a significant independent predictor of regional and whole body BMD. Consequently, maintaining or increasing muscle mass in this patient population may have a positive effect on BMD and prevent the development of osteopenia and osteoporosis. Although only modest differences were found between CD patients and controls for areal BMD by DXA and some bone parameters by pQCT, there were no differences in indices of the muscle-bone unit. These results suggest that bone strength is adequate for muscle size and strength in our sample of male CD patients with well-controlled disease, inferring that no specific intervention is required to correct expected deficiencies in this relationship. Instead, an exercise training program introduced to this patient cohort should aim to maintain or increase bone mass through weight-bearing exercises as well as encourage the maintenance or increase in muscle mass.
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Évaluation in vivo chez l'enfant du comportement mécanique du thorax et des propriétés mécaniques des côtes / In vivo study on children of the mechanical behavior of thorax and the mechanical properties of ribsZhu, Yumin 20 May 2014 (has links)
Les données biomécaniques sur les enfants sont rares et difficiles à obtenir lors d'expérimentations. Cette recherche s'intéresse à l'évaluation in vivo du comportement mécanique du tronc et des propriétés mécaniques de l'os cortical des côtes. Le comportement mécanique in vivo du tronc de l'enfant et de l'adulte sous charge pendant des manipulations de kinésithérapie respiratoire ont été étudiées. Trois formes typiques de courbes de force en fonction du déplacement ont été observées. Un plus grand décalage en temps entre les courbes de force en fonction du temps et les courbes de déplacement en fonction du temps ont été observés plus fréquemment chez les enfants que chez les adultes, ce qui conduit à différentes formes de courbes de force en fonction du déplacement entre les enfants et les adultes. Parmi les paramètres qui peuvent affecter le comportement mécanique du tronc, les propriétés mécaniques de l'os cortical des côtes ont été étudiées. Dans un premier temps, il a été constaté ex vivo que les propriétés mécaniques de l'os cortical des côtes des adultes sont liées de façon linéaire à la Densité Minérale Osseuse (DMO) mesurée par la tomodensitométrie quantitative (Quantitative Computed Tomography, QCT) et la tomographie périphérique quantitative à haute résolution (High Resolution Peripheral Quantitative Computed Tomography, HR-pQCT). La DMO peut être mesurée par QCT in vivo. Ensuite, les relations entre la DMO et les propriétés mécaniques pour l'adulte ont été appliquées aux enfants, et les propriétés mécaniques de l'os cortical de l'enfant ont pu être estimées. Les propriétés mécaniques ont été trouvées plus élevées dans la partie latérale des côtes que dans les régions antérieures et postérieures. Il a également été constaté que les propriétés mécaniques augmentent au cours de la croissance. Il s'agite la première étude qui a évalué les propriétés des matériaux de l'os cortical des côtes de l'enfant in vivo. Cette étude peut aider à mieux comprendre la réponse mécanique du tronc de l'enfant et les propriétés mécaniques de l'os cortical costal. À court terme, ces résultats mesurés in vivo seront considérés dans des modèles éléments finis du tronc de l'enfant / Biomechanical data on children, both mechanical behaviors and tissue properties, are rare and difficult to be obtained through biomechanical experiments. This thesis mainly discussed the mechanical behavior of pediatric trunk and mechanical properties of pediatric rib cortical bones in vivo. The mechanical responses of the living and active pediatric and adult trunks during in vivo loading tests were investigated. Three typical shapes of force-displacement curves were observed. Larger time lags between force time histories and displacement time histories were observed more frequently in children than adults, resulting in different shapes of force-displacement curves between children and adults. To better understand the mechanical behavior of pediatric trunk, rib cortical bone mechanical properties were studied. It was found that mechanical properties of adult rib cortical bones were linearly related to Bone Mineral Density (BMD) measured by Quantitative Computed Tomography (QCT) and High Resolution Peripheral Quantitative Computed Tomography (HR-pQCT). The BMD could be measured by QCT in vivo. Then, the mechanical property-BMD relationships were introduced to child population, and the mechanical properties of pediatric rib cortical bones were estimated. The mechanical properties were found higher in the lateral part of the ribs than the anterior and posterior regions. It was also found that the mechanical properties were growing during the growth of children. This is the first study which estimated the material properties of pediatric rib cortical bones in vivo. This study can help to better understand the mechanical response of pediatric trunk and mechanical properties of pediatric rib cortical bones. These results measured in vivo could contribute to improve the biofidelity of pediatric modeling
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Osteoartrite, geno valgo e densidade mineral óssea na deficiência isolada genética do hormônio do crescimento / Osteoarthritis, genu valgus, and bone mineral density in isolated genetic deficiency of growth hormonePereira, Carlos de Carvalho Epitácio 30 August 2013 (has links)
The GH/IGF-I axis is important for bone growth, but its effects on joint function are not completely understood. Adult onset GH deficient (GHD) individuals have often reduced bone mineral density (BMD). However, there are limited data on BMD in adult patients with untreated congenital isolated GHD (IGHD). We have shown that adult IGHD individuals from the Itabaianinha, homozygous for the c.57+1G>A GHRHR mutation, have reduced bone stiffness, but BMD and joint status in this cohort are unknown. The objective is to study BMD, joint function, and osteoarthritis score in IGHD adults harboring c.57+1G > A GHRHR mutation, previously untreated. It was performed a cross-sectional study. Areal BMD by dual-energy X-ray absorptiometry was measured in 25 IGHD and 23 controls. Volumetric BMD (vBMD) was calculated at the lumbar spine and total hip. Joint function was assessed by goniometry of elbow, hips and knees. X rays were used to measure the anatomic axis of knee and the severity of osteoarthritis, using a classification for osteophytes (OP) and joint space narrowing (JSN). Genu valgum was more prevalent in IGHD than controls. The osteoarthritis knees OP score was similar in both groups, and knees JSN score showed a trend to be higher in IGHD. The hips OP score, and JSN score were higher in IGHD. Areal BMD was lower in IGHD than controls, but vBMD was similar in the two groups. Range of motion was similar in elbow, knee and hip in IGHD and controls. Untreated congenital IGHD due inactivating GHRHR mutation causes hip joint osteoarthritis problems and genu valgum, without apparent clinical significance, reduces bone size but does not reduce vBMD of the lumbar spine and hip. / O eixo GH/IGF-I é importante para o crescimento e desenvolvimento ósseo, mas seus efeitos na densidade mineral óssea (DMO) e na função articular não são completamente conhecidos. Indivíduos com deficiência de GH (DGH) no início da vida adulta tem frequentemente redução da DMO. Entretanto, existem dados limitados em indivíduos com deficiência isolada e congênita do hormônio do crescimento (DIGH). Mostramos que indivíduos adultos com DIGH, decorrente de uma mutação no GHRHR tipo c.57+1G>A, provenientes da coorte de Itabaianinha, não tratados, apresentam uma redução da rigidez óssea, mas a DMO e a função articular dessa coorte são desconhecidas. O objetivo desse trabalho é estudar a DMO, a severidade da osteoartrite, a função e a anatomia articular em uma população de indivíduos com DIGH de ambos os sexos, portando a mutação c.57+1G > A GHRHR, provenientes de Itabaianinha. Foi realizado um estudo transversal, através da realização da densitometria óssea com cálculo da DMO areal e volumétrica (DMOv) em coluna lombar, quadril total e corpo inteiro, em 25 indivíduos com DIGH e 23 controles. A função articular foi avaliada pela goniometria dos cotovelos, quadris e joelhos. Radiografias foram feitas para mensurar o eixo anatômico do joelho e a severidade da osteoartrite, baseada numa adaptação da classificação da Sociedade Internacional de pesquisa da OA a partir dos osteófitos (OF) e estreitamento do espaço articular (EEA). Os resultados mostraram que DMO areal foi menor que nos controles, mas a DMOv foi similar em ambos os grupos. A amplitude de movimentos dos cotovelos, quadris e joelhos foram semelhantes em ambos os grupos. Geno valgo foi mais prevalente nos indivíduos com DIGH que nos controles. No joelho, o escore de osteoartrite para OF foi similar em ambos os grupos e o escore para EEA mostrou uma tendência a ser mais elevado na DIGH. No quadril, os escores de OF e do EEA foram maiores no DIGH. Em conclusão, DIGH congênita não tratada causa osteoartrite no quadril e geno valgo, sem aparente importância clínica, reduz o tamanho do osso, mas não reduz a DMOv da coluna lombar e quadril.
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