Comparison on Performance of Quantitative Ultrasound and Dual-Energy X-ray Absorptiometry in Evaluating Bone Health of Adults Aged 18-40 Years / 中国医学科学院学报

Objective To compare the consistency of quantitative ultrasound(QUS)and dual-energy X-ray absorptiometry(DXA)in measuring bone mineral density(BMD)of adults aged 18-40 years in Guangzhou and evaluate the diagnostic value of QUS for identifying low bone mass.Methods DXA was employed to measure the BMD and QUS to measure the speed of sound(SOS)in 731 participants.The Bland-Altman analysis was performed to evaluate the consistency of Z scores between SOS and BMD.With the BMD Z ≤-2.00 as the diagnostic criterion for low bone mass,the receiver operating characteristics curve of QUS was established,and the area under the curve(AUC)and the sensitivity,specificity,and correct diagnostic index for the optimal cut-off of SOS Z score were calculated.Results The results of Bland-Altman analysis showed that the mean differences in the Z scores of SOS and BMD in males and females were 1.27(-0.94 to 3.47)and 0.93(-1.33 to 3.18),respectively.The AUC of SOS Z score in the diagnosis of low bone mass in males and females was 0.734(95%CI=0.380-0.788)and 0.679(95%CI=0.625-0.732),respectively.In males,the optimal cut-off of SOS Z score for low bone mass was -0.35,with the sensitivity,specificity,and correct diagnostic index of 64.1%,68.6%,and 0.327,respectively.In females,the optimal cut-off value of SOS Z scores for low bone mass was -1.14,with the sensitivity,specificity,and correct index of 73.9%,54.8%,and 0.285,respectively.Conclusion QUS and DXA show poor consistency in the diagnosis of BMD in the adults aged 18-40 years in Guangzhou,while QUS demonstrates an acceptable value in identifying low bone mass.

Factores de riesgo de baja masa ósea en mujeres premenopáusicas con lupus eritematoso sistémico / Risk factors for low bone mass in premenopausal women with systemic lupus erythematosus

RESUMEN Introducción: los pacientes con lupus eritematoso sistémico tienen un riesgo elevado de presentar baja masa ósea. La etiología es multifactorial (factores de riesgo tradicionales, propios de la enfermedad, laboratoriales, serológicos, metabólicos y los relacionados al tratamiento). Objetivo: determinar los factores de riesgo de baja masa ósea tradicionales (sedentarismo, tabaquismo, alcohol, baja ingesta láctea, bajo índice de masa corporal), los relacionados con la enfermedad (presentación clínica, laboratoriales), metabólicos y el tratamiento, con la disminución de la densidad mineral ósea en mujeres premenopáusicas con lupus eritematoso sistémico Metodología: estudio observacional de corte transverso prospectivo analítico de mujeres premenopáusicas con lupus eritematoso sistémico, que acudieron al Hospital Nacional en el periodo octubre 2017 - octubre 2019. La densidad mineral ósea se evaluó por densitometría DEXA, y se utilizó el Z score, valores iguales o inferiores a -2,0 DS se consideró como baja masa ósea. Las variables analizadas fueron: factores de riesgo de baja masa ósea tradicionales, relacionados con el lupus, laboratoriales, serológicos, metabólicos y el tratamiento. Análisis estadístico: para la descripción de las variables se utilizaron media y desviación estándar para las variables continuas; y proporciones para las cualitativas. Se establecieron los factores de riesgo para baja masa ósea por la prueba de Chi cuadrado considerándose significativa un valor p ˂0,05, para la comparación de medias se utilizó la prueba t de Student. Resultado: fueron estudiadas 61 mujeres premenopáusicas, con una edad media 25,6 ± 7 años, siendo del interior de país 50,8 % y Central 49,18 %. Tenían estudios secundarios 54,10 %, terciarios 34,43 %, primarios 11,48 %. Eran sedentarias 40,98 %. Presentaron una baja ingesta láctea el 21,31 % y una era fumadora activa 1,64 %. Tenían peso normal 66,2 %, sobrepeso 15,25 %, obesidad 18,33 %, bajo peso 1,64 %. El tiempo de enfermedad, la media fue 50,5 ± 56,4 meses. El índice de actividad de la enfermedad (SLEDAI) fue 6,5 ± 6,5. Presentaron una duración de la enfermedad mayor de 5 años el 31,5 %. Tenían nefritis lúpica 52,54 %, actividad severa 24,5 %, hipocomplementemia 45 %. ANA media 995,5 ± 1164, anti DNA media 274,2 ± 830,8, anti Ro positivo 54,7 %, anti Sm positivo 24,5 %. Vitamina D valor normal 18,5 %, insuficiente 50,9 %, deficiente 32,6 %. Presentaron baja masa ósea 7 pacientes 11,4 %. No se encontró una asociación entre los factores de riesgo tradicionales, los relacionados con la enfermedad (inflamación sistémica, laboratoriales), metabólicos y el tratamiento con una baja masa ósea, (p ≥ 0,05). Conclusión: presentaron una baja masa ósea 11,4 %. Los factores de riesgo tradicionales, los relacionados con la enfermedad, laboratoriales, metabólicos y el tratamiento no presentaron una asociación estadísticamente significativa con la baja masa ósea.

ABSTRACT Introduction: patients with systemic lupus erythematosus have a high risk of presenting low bone mass. The etiology is multifactorial (traditional risk factors, characteristic of the disease, laboratory, serological, metabolic and those related to treatment). Objective: to determine the traditional risk factors for low bone mass (sedentary lifestyle, smoking, alcohol, low milk intake, low body mass index), those related to the disease (clinical presentation, laboratory), metabolic and treatment, with the decrease of bone mineral density in premenopausal women with systemic lupus erythematosus. Methodology: prospective analytical cross-sectional observational study of premenopausal women with systemic lupus erythematosus, who attended the National Hospital in the period October 2017 - October 2019. Bone mineral density was evaluated by DEXA densitometry, and the Z score was used, equal values or lower than -2,0 SD was considered low bone mass. The variables analyzed were: traditional risk factors for low bone mass, related to lupus, laboratory, serological, metabolic and treatment. Statistical analysis: mean and standard deviation for continuous variables were used to describe the variables; and proportions for qualitative ones. The risk factors for low bone mass were established by the Chi square test, considering a p value of ˂0,05 as significant; the Student's t test was used to compare means. Result: 61 premenopausal women were studied, with a mean age 25,6 ± 7 years, being from the interior of the country 50,8 % and Central 49,18 %. They had secondary studies 54,10 %, tertiary 34,43 %, primary 11,48 %. 40,98 % were sedentary. 21,31 % had a low milk intake and 1,64 % was an active smoker. They were 66,2 % normal weight, 15,25 % overweight, 18,33 % obese, 1,64 % underweight. The mean time of illness was 50,5 ± 56,4 months. The disease activity index (SLEDAI) was 6,5 ± 6,5. 31,5 % had a duration of the disease greater than 5 years. They had lupus nephritis 52,54 %, severe activity 24,5 %, hypocomplementemia 45 %. Mean ANA 995,5 ± 1164, mean anti DNA 274,2 ± 830,8, anti Ro positive 54,7 %, anti Sm positive 24,5 %. Vitamin D normal value 18,5 %, insufficient 50,9 %, deficient 32,6 %. 7 patients had low bone mass, 11,4 %. No association was found between traditional risk factors, those related to the disease (systemic inflammation, laboratory), metabolic and treatment with low bone mass, (p ≥ 0,05). Conclusion: they had a low bone mass 11,4 %. The traditional risk factors, those related to the disease, laboratory, metabolic and treatment did not present a statistically significant association with low bone mass.

Osteogênese imperfeita: relato de caso de uma família / Osteogenesis imperfecta: case report of a family

A osteogênese imperfeita (OI) é uma doença rara do tecido conjuntivo cuja principal causa é uma mutação dominante nos genes do colágeno tipo I, a proteína mais abundante do osso. As principais manifestações clínicas da doença incluem a ocorrência de fraturas de repetição, encurvamento dos ossos, esclera azulada, dentinogênese imperfeita, perda auditiva, escoliose, aumento da frouxidão ligamentar, deformidade basilar do crânio e baixa estatura. Neste estudo, descrevemos cinco casos de pacientes de uma mesma família com OI tipo I, destacando os aspectos clínicos da doença. Todos os pacientes apresentam esclera azulada e tiveram múltiplas fraturas ao longo da vida. Eles permanecem em seguimento a nível ambulatorial e a maioria faz tratamento com alendronato de sódio, suplementação de cálcio e vitamina D.

Osteogenesis imperfecta is a rare disease of connective tissue in which the most common cause is the dominant mutation in collagen type I, the most abundant protein in the bone. The main clinical manifestations of the disease include the occurrence of repeat fractures, bowing of the bones, blue sclera, dentinogenesis imperfecta, hearing loss, scoliosis, increased ligament laxity, basilar skull deformity and short stature. In this study, we describe five cases of patients with osteogenesis imperfecta type I of the same family, highlighting the clinical aspects of the disease. All patients have blue sclera and had multiple fractures. They remain in follow-up and most of them do treatment with alendronate, supplementation of calcium and vitamin D.

Prevalencia de causas secundarias de baja masa ósea en una población de mujeres premenopáusicas / Prevalence of secondary causes in a population of premenopausal women with low bone mass

La osteoporosis es un trastorno común en las mujeres posmenopáusicas; sin embargo, también puede afectar a hombres y mujeres jóvenes premenopáusicas. El objetivo del presente trabajo fue evaluar la prevalencia de causas secundarias de baja masa ósea en un grupo de mujeres premenopáusicas que consultaron en una Institución especializada en Osteología. Material y métodos: se realizó un estudio retrospectivo, de corte transversal, descriptivo y observacional. Se analizaron las historias clínicas de 88 pacientes que consultaron por baja masa ósea durante un período de 19 meses, con la finalidad de encontrar posibles causas secundarias. A su vez, se definió como pacientes con diagnóstico de baja masa ósea idiopática aquellas en las cuales no se encontró ninguna causa secundaria de pérdida ósea. Resultados: de las 88 mujeres evaluadas, el 48,9% presentaba al menos una causa secundaria para baja masa ósea (amenorrea secundaria, hipercalciuria, tratamiento con glucorticoides, hipovitaminosis D y enfermedad celíaca) y el 51,1% fueron consideradas idiopáticas. Conclusiones: es esencial evaluar exhaustivamente a las mujeres premenopáusicas con baja masa ósea a fin de descartar posibles causas secundarias y tomar las medidas preventivas necesarias para mejorar esa condición. (AU)

Objective: osteoporosis is a common disorder in postmenopausal women, however it can also affect men and premenopausal young women. The purpose of this study was to evaluate the prevalence of secondary causes of low bone mass in premenopausal women that consulted physicians in an institution specialized in osteology for a period of 19 months. Material and methods: this is a retrospective, transversal, descriptive and observational study. The clinical history of 88 patients who consulted a physician due to low bone mass for a period of 19 months in an institution specialized in osteology. Were analyzed the patient's clinical history in order to find secondary causes. We define as suffering Low Bone Mass those patients who did not have secondary causes. Results: of the 88 women tested, 48,9% had one or more secondary causes or risks factors for low bone mass (secondary amenorrea, hypercalciuria, treatment with glucocorticoids, hypovitamiosis D and celiac disease) and 51,1% patients were considered idiopathic. Conclusions: we conclude that it is essential to exhaustively search for secondary causes of low bone mass in premenopausal women, due to the high prevalence of secondary osteoporosis in this population. (AU)

Baja masa ósea, osteoporosis primaria y secundaria en mujeres premenopáusicas / Low bone mass, primary and secondary osteoporosis in premenopausal women / Baixa massa óssea e osteoporose primária e secundária em mulheres na premenopáusicas

Existe escasa información sobre baja masa ósea y osteoporosis en mujeres premenopáusicas. Solo el 2% de las mujeres jóvenes consulta para evaluar la presencia de osteoporosis. En el 50% de las mujeres premenopáusicas que presentan una disminución de su masa ósea se diagnostican enfermedades o medicaciones que la provocan. Las causas deben ser cuidadosamente investigadas para no emitir un diagnóstico apresurado de osteoporosis premenopáusica. Al diagnóstico de baja masa ósea se arriba luego de descartar las causas que ocasionan osteoporosis secundaria y su etiología se relaciona genéticamente con un bajo pico de masa ósea. El cuadro de osteoporosis primaria presenta una densidad mineral ósea (DMO) muy disminuida y fracturas óseas por fragilidad. La etiología no es clara aún, la genética marca el 50-80% de lo que sucede con la masa ósea. Se ha encontrado en diferentes poblaciones, una disminución de la función osteoblástica, resistencia a IGF1, disminución de la hormona de crecimiento, bajos niveles de estradiol, alteración de la expresión del receptor a-estrogénico de los osteoblastos, alteración de la dinámica de secreción de la PTH y aumento de la excresión de interleuquina 1. El diagnóstico se realiza por densitometría, marcadores bioquímicos óseos y radiografías de columna dorsal y lumbar que permiten visualizar fracturas vertebrales asintomáticas. La International Society for Clinical Densitometry (ISCD) y las guías argentinas para osteoporosis sugieren definir la DMO premenopáusica por Z-score y se considera normal hasta -2.0. El tratamiento se basa fundamentalmente en generar hábitos saludables para el hueso: ingesta de calcio y vitamina D o suplementos de calcio y vitamina D, actividad física, evitar sustancias perjudiciales como alcohol y tabaco en exceso. Cuando la DMO es muy baja o existe una pérdida acelerada de DMO o fracturas por fragilidad, el tratamiento con teriparatide ha demostrado ser efectivo. Los bifosfonatos solo deben indicarse en situaciones especiales de osteoporosis. Cuando se diagnostica una osteoporosis secundaria, el tratamiento es el de la enfermedad que la provoca. Cada paciente debe ser analizada con mucha prudencia para arribar al diagnóstico correcto y al mejor tratamiento.

There is little information about low bone mass and osteoporosis in premenopausal women. Only 2% of young women consult to evaluate the presence of osteoporosis. A total of 50% of premenopausal women have a disease or take a medication that lessens their bone mass. The causes must be carefully investigated to arrive at a correct diagnosis. Diagnosing low bone mass up after ruling out secondary osteoporosis and its etiology is genetically related to low peak bone mass. Primary osteoporosis presents a very reduced bone mineral density (BMD) with bone fragility fractures. The etiology is not clear yet: genetics marks 50-80% of what happens with bone mass. Decreased osteoblast function, IGF1 resistance, decreased growth hormone, low estradiol levels, altered expression receptor a-estrogenic of osteoblasts, altered dynamics of PTH secretion, and increased excretion of interleukin-1 have been found in different populations. The diagnosis is not only performed by densitometry but also through bone biochemical markers and radiographs of thoracic and lumbar spine radiographs that can diagnose asymptomatic vertebral fractures. The International Society for Clinical Densitometry (ISCD) and Argentine guidelines suggest definition premenopausal osteoporosis by BMD Z -score, in which a value up to -2.0 is considered normal. The treatment is based primarily on healthy habits for the bone: intake of calcium and vitamin D or calcium and vitamin D supplements, physical activity, and avoiding damaging substances to the bone, like alcohol and tobacco in excess. When BMD is very low or there is a rapid loss of BMD or fragility fractures, teriparatide treatment has proven effective. The bisphosphonates should be indicated only in special patients with osteoporosis. When a secondary osteoporosis is diagnosed, the treatment given is for the disease that has caused it. Each patient must be analyzed with great care to arrive at the correct diagnosis and the best treatment.

Há pouca informação sobre baixa massa óssea e osteoporose em mulheres na pré-menopausa. Apenas 2% das mulheres jovens consulta para avaliar a presença de osteoporose. 50% das mulheres premenopáusicas que apresentam diminuição da massa óssea são diagnosticadas como causas doenças ou medicamentos. As causas devem ser cuidadosamente investigadas para emitir um diagnóstico rápido de osteoporose premenopáusica. Chega-se ao diagnóstico de baixa massa óssea após descartar as causas que provocam osteoporose secundária e sua etiologia é geneticamente relacionada com baixo pico de massa óssea. O quadro de osteoporose primária apresenta densidade mineral óssea (DMO) muito diminuída e fraturas ósseas por fragilidade. A etiologia ainda não está clara, a genética marca 50-80% do que acontece com a massa óssea. Foi encontrada em diferentes populações diminuição da função osteoblástica, resistência a IGF1, diminuição do hormônio de crescimento, baixos níveis de estradiol, alteração da expressão do receptor a-estrogênico dos osteoblastos, alteração da dinâmica de secreção de PTH, aumento da excreção de interleucina 1. O diagnóstco é realizado por densitometria, marcadores bioquímicos ósseos e radiografias de coluna dorsal e lombar que permitem visualizar fraturas vertebrais assintomáticas. A International Society for Clinical Densitometry (ISCD) e os Guias argentinos para osteoporose sugerem definir a DMO por Z-score e se considera normal até -2,0. O tratamento baseia-se principalmente em gerar hábitos saudáveis para o osso: ingestão de cálcio e vitamina D ou suplementos de cálcio e vitamina D, atividade física, evitar substâncias prejudiciais como álcool e tabaco em excesso. Quando a DMO é muito baixa ou há uma rápida perda de DMO ou fraturas por fragilidade, o tratamento com teriparatide demonstrou ser eficaz. Os bifosfonatos só devem ser indicados em situações especiais osteoporose. Quando uma osteoporose secundária é diagnosticada, o tratamento é o da doença que a provoca. Cada paciente deve ser analisado com muito cuidado para chegar ao diagnóstico correto e o melhor tratamento.

Genetics of osteoporosis: searching for candidate genes for bone fragility

ABSTRACT The pathogenesis of osteoporosis, a common disease with great morbidity and mortality, comprises environmental and genetic factors. As with other complex disorders, the genetic basis of osteoporosis has been difficult to identify. Nevertheless, several approaches have been undertaken in the past decades in order to identify candidate genes for bone fragility, including the study of rare monogenic syndromes with striking bone phenotypes (e.g. osteogenesis imperfecta and osteopetroses), the analysis of individuals or families with extreme osteoporotic phenotypes (e.g. idiopathic juvenile and pregnancy-related osteoporosis), and, chiefly, genome-wide association studies (GWAS) in large populations. Altogether, these efforts have greatly increased the understanding of molecular mechanisms behind bone remodelling, which has rapidly translated into the development of novel therapeutic strategies, exemplified by the tales of cathepsin K (CTSK) and sclerostin (SOST). Additional biological evidence of involvement in bone physiology still lacks for several candidate genes arisen from GWAS, opening an opportunity for the discovery of new mechanisms regulating bone strength, particularly with the advent of high-throughput genomic technologies. In this review, candidate genes for bone fragility will be presented in comprehensive tables and discussed with regard to how their association with osteoporosis emerged, highlighting key players such as LRP5, WNT1 and PLS3. Current limitations in our understanding of the genetic contribution to osteoporosis, such as yet unidentified genetic modifiers, may be overcome in the near future with better genotypic and phenotypic characterisation of large populations and the detailed study of candidate genes in informative individuals with marked phenotype.

Management of Low Bone Mass in Female Athletes / 고신대학교의과대학학술지

As female athletic participation has increased, the positive effects of exercise on health have become evident. However, with this growth in sports activity, a set of health problems unique to the female athlete has emerged. The female athlete triad and its components can occur in females of all ages in every sport. The Female Athlete Triad poses serious health risks, both short and long term, to the overall well-being of affected individuals. Sustained low energy availability can impair health, causing many medical complications within the skeletal, endocrine, cardiovascular, reproductive, and central nervous systems. With the surge of females participating in athletics within the past 10 to 15 years, it is both conceivable and likely that the prevalence of this syndrome will continue to grow. Therefore, it is imperative that appropriate screening and diagnostic measures are enacted by a multidisciplinary team of health care providers, counselors, teachers, and dieticians in order to provide the proper care to affected athletes. Initial awareness should take place within the educational confines of elementary and high schools. Screening for female athletes exhibiting risk factors for the triad should also take place at the time of sports physicals. If one component of the triad is identified, the clinician should take the time to effectively workup the other. Treatment for each component of the triad includes both pharmacological and nonpharmacological measures, with emphasis placed upon increased energy availability and overall improved nutritional health. Using this all-encompassing type of approach, sports medicine practitioners should feel empowered to continue to promote the lifelong well-being of female athletes in the years to come.

Impacto de los factores de riesgo en osteoporosis sobre la densidad mineral ósea en mujeres perimenopáusicas de la Ciudad de Querétaro, México / Impact of risk factors for osteoporosis on bone mineral density in perimenopausal women of the City of Querétaro, México.

Es indispensable evaluar los factores de riesgo en osteoporosis, principalmente los modificables, como: los estilos de vida, para prevenirla, ya que es un grave problema de salud pública. Se estudiaron 805 mujeres (35-55 años) de la ciudad de Querétaro, México. Se obtuvieron datos personales, historia familiar, hábitos como: fumar, actividad física, consumo de alcohol y de cafeína (refresco de cola y café). Las participantes completaron el cuestionario de riesgo de osteoporosis (19 factores, con uno, existe riesgo) (International Osteoporosis Foundation). Se evaluó: Índice de Masa Corporal (IMC), riesgo cardiovascular y complexión corporal (Talla/Circunferencia de muñeca). Se realizó una densitometría ósea (DXA) en dos regiones diagnósticas: columna lumbar y cadera total y las participantes se clasificaron en: densidad mineral ósea (DMO) normal, DMO baja y osteoporosis. La prevalencia de osteoporosis fue de 7% y de DMO baja fue de 34%, predominantemente en región lumbar y en aquellas con menopausia. La edad fue mayor en mujeres osteoporóticas (51 años) y el 85% menopáusicas, con valores menores de: peso, talla, IMC, circunferencia de cintura y cadera, que las normales. Los factores de riesgo modificables que aumentaron el riesgo fueron: bajo peso, fumar y consumo de refresco de cola con 6,5, 1,2 y 1,4 (razón de momios) respectivamente (p<0,05). Factores no modificables significativos: menopausia (quirúrgica), historia de fractura y riesgo de osteoporosis. Se concluye que dentro de los factores de riesgo modificables para la prevención de osteoporosis de mayor impacto en esta muestra son: bajo peso, cigarrillo y el refresco de cola.

It is essential to evaluate osteoporosis risk factors, mainly the modifiable, like the lifestyle, in Mexican women in order to prevent it, since it is a serious public health problem.We studied 805 women (35-55 years old) in the City of Queretaro, México. We obtained: personal data, family history, habits, such as smoking, alcohol, caffeine (coffee and soft drink of cola) and physical activity. Participants complete the questionnaire on 19 risk factors for osteoporosis (International Osteoporosis Foundation) one of them with risk. We evaluated: body mass index (BMI), cardiovascular risk and corporal complexion. Bone densitometry was performed in two diagnostic regions: lumbar spine and total hip and participants were classified as normal bone mass density (BMD), low BMD and osteoporosis. The prevalence of osteoporosis was 7% and of low BMD was 34%, predominantly in the lumbar region and in those with menopause. In osteoporotic women, the age was higher (51 years) and 85% menopausal women, also lower values of weight, height, BMI, waist circumference and hip than women with normal bone mass density. The significantly modifiable risk factors were: low weight, smoking and consumption of soft drink of cola with 6,5, 1,2 and 1,4 (odds ratio), respectively (p <0,05). The significantly non-modifiable risk factors were: menopause (surgical), history of fracture and risk. It is concluded that within the modifiable risk factors for the prevention of osteoporosis, those with the greatest impact were low weight, cigarette and soft drink of cola.

Risk Factors and Assessment of Low Bone Mass in the Young Adult Female / 가정의학회지

Although low bone mass and accelerated bone loss can occur early in life, osteoporosis is usually considered a disorder of postmenopausal women. However, some premenopausal women are also at risk for osteoporosis. Because of a lack of knowledge and few practice recommendations for premenopausal women, it can be more difficult to determine the potential risk and to manage the low bone mass in these women. Low bone density in the young adult female may reflect attainment of a lower peak bone mass or be secondary to progressive bone loss following attainment of peak bone density. Early bone health is a key determinant of future osteoporosis, optimizing the bone gain by young adulthood and minimizing the bone loss by menopause is the important preventive strategies. Low bone mass in the young adult female may be associated with prolonged amenorrhea, anorexia nervosa, chronic glucocorticoid therapy and diseases that affect calcium and vitamin D metabolism. Also, bone loss may be associated with common conditions such as smoking, dieting, low calcium intake, and low physical activity. This review addresses peak bone mass accrual, risk factors, screening or evaluation and management of low bone mass in young adult female.