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1.
Turk J Ophthalmol ; 53(1): 70-73, 2023 02 24.
Artículo en Inglés | MEDLINE | ID: mdl-36847644

RESUMEN

Fibrous dysplasia is a benign, rare bone disease in which bone is replaced by fibro-osseous tissue to varying degrees. It can present differently depending on the amount of compression caused by the fibro-osseous tissue. Patients are usually asymptomatic, but symptoms related to cranial nerve compression may occur. In this case report, we describe a 45-year-old woman with sphenoid bone dysplasia which compressed the optic nerve and caused unilateral optic disc cupping that mimicked glaucoma. Our case highlights the importance of including compressive etiologies associated with optic disc cupping in the differential diagnosis of glaucoma.


Asunto(s)
Enfermedades del Desarrollo Óseo , Glaucoma , Disco Óptico , Enfermedades del Nervio Óptico , Femenino , Humanos , Persona de Mediana Edad , Nervio Óptico , Enfermedades del Nervio Óptico/diagnóstico , Enfermedades del Nervio Óptico/etiología , Glaucoma/diagnóstico , Glaucoma/etiología , Enfermedades Raras
2.
Pan Afr Med J ; 42: 161, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36187048

RESUMEN

Bowing of the legs is common in childhood. Most times it is considered to be rickets without considering other possibilities. Blount´s disease is a close differential diagnosis which is developmental deformity characterized by intorsion of tibia leading to varus angulation. This case report aims to encourage pediatricians to expand their vision and consider other possibilities when a case of bowing of legs is encountered. Here we report a case of a four-year-old boy with bowing of both legs noticed first at 2.5 years of age. There was no history suggestive of trauma. Development of the child was age appropriate in all domains. He was receiving treatment for rickets for 1.5 years in form of oral vitamin D3 and calcium supplementations. He had no other clinical signs of rickets like frontal bossing, widening of wrists, and rachitic rosary except bowing of legs. His biochemical parameters did not show any alterations that would support the diagnosis of rickets. Weight-bearing radiographs of lower limbs showed medial intorsion of bilateral tibia with metaphyseo-diaphysial angle to be 25º on the right side and 20º on the left side, which was beyond the physiological normal angulation, therefore he was diagnosed as a case of Blount´s disease, stage III as per Langenskiöld classification. All the bow legs is not always rickets in pediatric practice. Therefore, various differential diagnoses should be kept in mind as early diagnosis and intervention can change a child´s life.


Asunto(s)
Genu Varum , Raquitismo , Enfermedades del Desarrollo Óseo , Calcio , Niño , Preescolar , Colecalciferol , Genu Varum/complicaciones , Humanos , Masculino , Osteocondrosis/congénito , Raquitismo/diagnóstico , Raquitismo/tratamiento farmacológico , Raquitismo/etiología , Tibia
3.
Biomed Res Int ; 2021: 4884760, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34840973

RESUMEN

The human skeleton of a young adult male with marked asymmetry of the bilateral upper extremities was excavated from the Mashiki-Azamabaru site (3000-2000 BCE) on the main island of Okinawa in the southwestern archipelago of Japan. The skeleton was buried alone in a corner of the cemetery. In this study, morphological and radiographic observations were made on this skeleton, and the pathogenesis of the bone growth disorder observed in the left upper limb was discussed. The maximum diameter of the midshaft of the humerus was 13.8 mm on the left and 21.2 mm on the right. The long bones comprising the left upper extremity lost the structure of the muscle attachments except for the deltoid tubercle of the humerus. The bone morphology of the right upper extremity and the bilateral lower extremities was maintained and was close to the mean value of females from the Ohtomo site in northwestern Kyushu, Japan, during the Yayoi period. It is assumed that the anomalous bone morphology confined to the left upper extremity was secondary to the prolonged loss of function of the muscles attached to left extremity bones. In this case, birth palsy, brachial plexus injury in childhood, and acute grey matter myelitis were diagnosed. It was suggested that this person had survived into young adulthood with severe paralysis of the left upper extremity due to injury or disease at an early age.


Asunto(s)
Fósiles/patología , Enfermedades del Desarrollo Óseo/historia , Enfermedades del Desarrollo Óseo/patología , Neuropatías del Plexo Braquial/historia , Neuropatías del Plexo Braquial/patología , Diagnóstico Diferencial , Fósiles/diagnóstico por imagen , Fósiles/historia , Historia Antigua , Humanos , Japón , Masculino , Tomografía Computarizada Multidetector , Paleopatología , Esqueleto/diagnóstico por imagen , Esqueleto/patología , Extremidad Superior/diagnóstico por imagen , Extremidad Superior/lesiones , Extremidad Superior/patología , Adulto Joven
4.
Clin Orthop Relat Res ; 479(8): 1830-1838, 2021 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-33930002

RESUMEN

BACKGROUND: Cam morphology is thought to originate near puberty and reflects a response of the peripheral aspect of the proximal femoral physis to increased local load. Participation in particular sports activities has been associated with cam morphology in contemporary patient populations; however, it is unclear whether cam is a recent phenomenon. There are limited data regarding the frequency of its occurrence and the general deviations in femoral anatomy in different historical populations. Such information may help to understand the possible influence of lifestyle and diet on cam morphology. QUESTIONS/PURPOSES: The purpose of this study was to evaluate femoral morphology in three historical populations. We asked: (1) Was cam morphology present in the three study populations, did those populations differ, and were there differences between sexes? (2) Were there differences in neck-shaft angle, version, or inclination between and among the examined populations? METHODS: We examined 204 adult femurs from the Neolithic population from Iran (n = 37, 3000 BC to 1631 BC), medieval population from Poland (n = 135, 10th to 13th centuries), and contemporary Australian aborigines (n = 32, early 20th century), provided by the Open Research Scan Archive, Museum of the First Piasts at Lednica and the University of Wroclaw, respectively. All three human populations represent different chronologic periods and lifestyles. All bones were scanned using CT and then measured on their three-dimensional (3-D) reconstructions in selected planes. Cam impingement was defined as an alpha angle > 55° measured on the inclination view. To evaluate the differences in anatomy between populations, we measured the true neck-shaft angle on the true AP view, apparent neck-shaft angle on the apparent AP view, the version angle on the version view, and the inclination angle on the inclination view. The prevalence of cam morphology and other anatomic parameters were compared among groups using chi-square test, one-way ANOVA with post hoc Tukey test, and paired t-test. RESULTS: Cam morphology was present in 5% of the Neolithic population from Iran, in 7% of the medieval population from Poland, and 3% of the contemporary Australian aborigine femurs (OR Neolithic population from Iran/the medieval population from Poland 0.7 [95% CI 0.2 to 3.4]; p = 0.67; OR Neolithic population from Iran/contemporary Australian aborigines 1.8 [95% CI 0.2 to 20.5]; p = 0.65; OR the medieval population from Poland/contemporary Australian aborigines 2.5 [95% CI 0.3 to 20.1]; p = 0.40). There were differences in the presence of cam morphology between the sexes in the medieval population from Poland with both femurs (females: 1% [1 of 76]; males: 15% [9 of 59]; p = 0.002). There was a difference in true neck-shaft angle between the Neolithic population from Iran (121° ± 6°) and contemporary Australian aborigines (131° ± 5°; mean difference 10° [95% CI 7° to 13°]; p < 0.001) and between the medieval population from Poland (124° ± 5°) and the contemporary Australian aborigines (mean difference 7° [95% CI 5° to 9°]; p < 0.001). Apparent neck-shaft angle differed between the Neolithic population from Iran (126° ± 6°) and the contemporary Australian aborigines (134° ± 5°; mean difference 8° [95% CI 6° to 11°]; p < 0.001), and between the medieval population from Poland (126° ± 6°) and the contemporary Australian aborigines (mean difference 9° [95% CI 7° to 11°]; p < 0.001). Moreover, we observed a difference in the version angle between the Neolithic population from Iran (19° ± 7°) and the medieval population from Poland (12° ± 9°; mean difference 7° [95% CI 4° to 10°]; p < 0.001] and in the inclination angle between aforementioned groups (18° ± 7° versus 11° ± 8°; mean difference 7° [95% CI 5° to 10°]; p < 0.001). CONCLUSION: This study found that cam morphology existed in historical populations at rates comparable with a contemporary population. CLINICAL RELEVANCE: The presence of cam morphology in historical populations suggests that cam morphology can develop outside of the intense sports activity seen in modern adolescents. Further study will help elucidate the etiology of cam morphology, which may be useful in the development of preventive strategies.


Asunto(s)
Enfermedades del Desarrollo Óseo/epidemiología , Enfermedades del Desarrollo Óseo/historia , Cuello Femoral/patología , Fémur/patología , Nativos de Hawái y Otras Islas del Pacífico/historia , Adulto , Australia/epidemiología , Australia/etnología , Enfermedades del Desarrollo Óseo/etnología , Femenino , Historia del Siglo XX , Historia Antigua , Historia Medieval , Humanos , Incidencia , Irán/epidemiología , Irán/etnología , Masculino , Polonia/epidemiología , Polonia/etnología
5.
Food Funct ; 11(6): 5420-5431, 2020 Jun 24.
Artículo en Inglés | MEDLINE | ID: mdl-32475999

RESUMEN

Osteogenesis plays a vital role in the maintenance of bone health. Imbalances in osteogenesis influence the onset of several bone loss-associated diseases. The intake of Uraria crinita (Fabaceae) through dietary supplements is advised for childhood bone dysplasia. This botanical provides edible tonics and detoxifiers, and is also used as a folk beverage. We evaluated the osteogenic effects of a 50% ethanol extract of the root of U. crinita on primary human osteoblasts (HObs) and initiated a novel comprehensive phytochemical strategy using liquid chromatography-tandem mass spectrometry (LC-MS/MS) for quality control of this functional food. Two isoflavones, genistein (5) and 5,7-dihydroxy-3',5'-dihydroxyisoflavone (6), increased the alkaline phosphatase activity (differentiation stage); the flavone glycoside vitexin (1), and the phenolic acid salicylic acid (2) enhanced the mineralization (mature stage). The isoflavone 2'-hydroxygenistein (4) possessed high osteogenic potential among the isolated compounds in HObs. It promoted osteogenesis-related stages and upregulated the gene expressions in a dose-dependent manner. The major compounds in the active fraction were quantitatively analyzed via phytochemical fingerprint detection. These LC-MS/MS-based phytochemical perspectives can act as reference standards in developing food supplements from U. crinita.


Asunto(s)
Cromatografía Liquida/métodos , Fabaceae/química , Osteogénesis/efectos de los fármacos , Fitoquímicos/farmacología , Espectrometría de Masas en Tándem/métodos , Enfermedades del Desarrollo Óseo/tratamiento farmacológico , Diferenciación Celular/efectos de los fármacos , Proliferación Celular/efectos de los fármacos , Supervivencia Celular/efectos de los fármacos , Niño , Femenino , Expresión Génica , Genisteína/farmacología , Glicósidos/farmacología , Humanos , Isoflavonas/farmacología , Persona de Mediana Edad , Osteoblastos/efectos de los fármacos , Extractos Vegetales/química , Extractos Vegetales/farmacología , Raíces de Plantas/química , Población Blanca
6.
Expert Rev Endocrinol Metab ; 14(3): 193-202, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-31023107

RESUMEN

INTRODUCTION: Optimising bone health might reduce the burden of both fractures in childhood and fragility fractures in later life. A number of maternal dietary and non-dietary factors have been identified that might influence offspring bone health and represent targets for intervention. AREAS COVERED: This article will outline the accrual of bone mineral throughout the life course and how observational and intervention studies have shown that maternal diet, in particular maternal calcium and 25-hydroxyvitamin D [25(OH)D] status, and lifestyle are associated with offspring bone mineralization. Studies examining the effects of maternal micronutrient supplementation on offspring bone mineral density (BMD) will also be discussed. EXPERT COMMENTARY: There is a wealth of observational evidence relating maternal diet to offspring BMD. However, high quality randomized controlled trials, such as the ongoing MAVIDOS study, are needed before these findings can be definitively translated into public health advice.


Asunto(s)
Enfermedades del Desarrollo Óseo/prevención & control , Calcificación Fisiológica , Fenómenos Fisiologicos Nutricionales Maternos , Lesiones Prenatales/prevención & control , Densidad Ósea , Enfermedades del Desarrollo Óseo/dietoterapia , Calcio de la Dieta/metabolismo , Ensayos Clínicos como Asunto , Suplementos Dietéticos , Femenino , Humanos , Salud Materna , Estudios Observacionales como Asunto , Embarazo , Lesiones Prenatales/dietoterapia , Vitamina D/análogos & derivados , Vitamina D/metabolismo , Deficiencia de Vitamina D/prevención & control
7.
J Surg Orthop Adv ; 27(1): 58-63, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29762118

RESUMEN

Alternative medicine in pediatrics is expanding, with chiropractic now a common choice for families seeking alternative medical care. Currently, there is sparse information in the literature exploring the role of chiropractic in orthopaedic pathology. The objective of this case series is to present pediatric patients who received treatment from chiropractors and orthopaedic physicians as well as to review the respective existing research. Data collected included chiropractic diagnosis, orthopaedic diagnosis, imaging studies, treatments, and complications. Twenty-three patients were studied. Scoliosis, Legg-Calvé-Perthes disease, developmental dysplasia of the hip, cerebral palsy, skeletal dysplasia, and slipped capital femoral epiphysis were diagnoses included. Children had multiple sessions of chiropractic for management of these conditions. The parents' perception for chiropractic was positive in every case. Delayed referral, misdiagnosis, adverse events from manipulative therapy, and ineffective treatments were observed in the present study. More research is indicated to validate chiropractic in children with orthopaedic pathology. (Journal of Surgical Orthopaedic Advances 27(1):58-63, 2018).


Asunto(s)
Enfermedades Óseas/diagnóstico , Parálisis Cerebral/diagnóstico , Quiropráctica , Errores Diagnósticos , Ortopedia , Pediatría , Derivación y Consulta , Adolescente , Actitud Frente a la Salud , Enfermedades Óseas/terapia , Enfermedades del Desarrollo Óseo/diagnóstico , Enfermedades del Desarrollo Óseo/terapia , Parálisis Cerebral/terapia , Niño , Preescolar , Terapias Complementarias , Diagnóstico Tardío , Femenino , Luxación Congénita de la Cadera/diagnóstico , Luxación Congénita de la Cadera/terapia , Humanos , Lactante , Enfermedad de Legg-Calve-Perthes/diagnóstico , Enfermedad de Legg-Calve-Perthes/terapia , Masculino , Padres , Escoliosis/diagnóstico , Escoliosis/terapia , Epífisis Desprendida de Cabeza Femoral/diagnóstico , Epífisis Desprendida de Cabeza Femoral/terapia
8.
Curr Osteoporos Rep ; 16(3): 256-268, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-29656376

RESUMEN

PURPOSE OF REVIEW: The group of sclerosing bone disorders encompasses a variety of disorders all marked by increased bone mass. In this review, we give an overview of the genetic causes of this heterogeneous group of disorders and briefly touch upon the value of these findings for the development of novel therapeutic agents. RECENT FINDINGS: Advances in the next-generation sequencing technologies are accelerating the molecular dissection of the pathogenic mechanisms underlying skeletal dysplasias. Throughout the years, the genetic cause of these disorders has been extensively studied which resulted in the identification of a variety of disease-causing genes and pathways that are involved in bone formation by osteoblasts, bone resorption by osteoclasts, or both processes. Due to this rapidly increasing knowledge, the insights into the regulatory mechanisms of bone metabolism are continuously improving resulting in the identification of novel therapeutic targets for disorders with reduced bone mass and increased bone fragility.


Asunto(s)
Hiperostosis/genética , Osteítis Deformante/genética , Osteosclerosis/genética , Picnodisostosis/genética , Anomalías Múltiples/genética , Enfermedades del Desarrollo Óseo/genética , Remodelación Ósea/genética , Resorción Ósea/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Discapacidad Intelectual/genética , Melorreostosis/genética , Osteoblastos , Osteoclastos , Osteogénesis/genética , Osteopetrosis/genética , Osteopoiquilosis/genética
9.
BMC Endocr Disord ; 17(1): 45, 2017 Jul 21.
Artículo en Inglés | MEDLINE | ID: mdl-28732535

RESUMEN

BACKGROUND: Primary hyperparathyroidism (PHPT) is uncommon among children with an incidence of 1:300,000. This diagnosis is often missed in children in contrast to adults where it is detected at a pre symptomatic stage due to routine blood investigations. Etiology of PHPT can be due to adenoma, hyperplasia or rarely carcinoma. CASE PRESENTATION: A 12 year old Sri Lankan girl presented with progressive difficulty in walking since 1 year. On examination she had bilateral genu valgum. Skeletal survey revealed valgus deformity of knee joints, bilateral subluxation of upper femoral epiphysis(SUFE), epiphyseal displacement of bilateral humeri, rugger jersey spine and subperiosteal bone resorptions in lateral aspects of 2nd and 3rd middle phalanges. There were no radiological manifestations of rickets. Metabolic profile revealed hypercalcemia with hypophosphatemia. Intact parathyroid hormone levels were elevated at 790 pg/ml. Vitamin D levels were deficient. She had low bone mineral density with Z score of -3.4. Vitamin D supplementation resulted in worsening of hypercalcemia without reduction in PTH levels. Tc 99 Sestamibi uptake scan showed abnormal tracer retention in left inferior pole of thyroid. A large parathyroid gland was removed with histology favoring parathyroid adenoma. Post operatively she developed hypocalcemia. Bilateral osteotomy was done for SUFE and further surgeries for correction of limb deformities planned. CONCLUSION: PHPT in children is usually diagnosed late when irreversible organ damage has occurred. Children can present with non specific symptoms involving gastrointestinal, musculoskeletal, renal and neurological systems. PHPT can cause disarray in bone and epiphysis in children during pubertal growth spurt. Genu valgum and SUFE are rare skeletal manifestations in PHPT and only 10 cases of genu valgum and 9 cases of SUFE have been reported up to now. So far no cases have been reported on epiphyseal displacement of humeri. Awareness regarding the occurrence of these rare skeletal manifestations especially during puberty is important for early diagnosis to prevent irreversible outcomes.


Asunto(s)
Enfermedades del Desarrollo Óseo/patología , Hiperparatiroidismo Primario/complicaciones , Enfermedades del Desarrollo Óseo/etiología , Niño , Femenino , Humanos , Pronóstico
10.
Radiología (Madr., Ed. impr.) ; 58(6): 496-500, nov.-dic. 2016. ilus
Artículo en Español | IBECS | ID: ibc-158683

RESUMEN

Presentamos un caso de displasia cleidocraneal diagnosticado en la semana 25 de gestación mediante tomografía computarizada (TC) de baja dosis fetal. La sospecha era de displasia ósea grave debido al percentil bajo en los huesos largos y la apariencia ecográfica de craneosinostosis. La TC no demostró alteraciones incompatibles con la vida. La dosis efectiva de la prueba fue de 5 mSv, dentro del rango recomendado para estas exploraciones. La TC de baja dosis fetal es una técnica emergente que permite estudiar estructuras óseas con precisión a partir del segundo trimestre de gestación. En España, es legalmente posible interrumpir el embarazo en caso de malformación grave del feto incluso si se sobrepasa la semana 22 de gestación. Por tanto, ante la sospecha de una displasia ósea grave, el radiólogo debe conocer las estrategias para disminuir la dosis manteniendo una calidad diagnóstica suficiente, y conocer las estructuras óseas que debe evaluar (AU)


We present a case of cleidocranial dysplasia diagnosed by low-dose fetal computed tomography (CT) in the 25th week of gestation. Severe bone dysplasia was suspected because of the fetus’ low percentile in long bones length and the appearance of craniosynostosis on sonography. CT found no abnormalities incompatible with life. The effective dose was 5 mSv, within the recommended range for this type of examination. Low-dose fetal CT is a new technique that makes precision study of the bony structures possible from the second trimester of pregnancy. In Spain, abortion is legal even after the 22nd week of gestation in cases of severe fetal malformations. Therefore, in cases in which severe bone dysplasia is suspected, radiologists must know the strategies for reducing the dose of radiation while maintaining sufficient diagnostic quality, and they must also know which bony structures to evaluate (AU)


Asunto(s)
Humanos , Masculino , Femenino , Embarazo , Enfermedades del Desarrollo Óseo/embriología , Enfermedades del Desarrollo Óseo , Displasia Cleidocraneal/embriología , Displasia Cleidocraneal , Tomografía Computarizada de Emisión , Dosis Mínimas/métodos , Ultrasonografía Prenatal , Clavícula/anomalías , Clavícula , Relación Dosis-Respuesta en la Radiación , Imagen por Resonancia Magnética/métodos , Espectroscopía de Resonancia Magnética/métodos , Craneosinostosis
11.
J Negat Results Biomed ; 15(1): 18, 2016 Oct 26.
Artículo en Inglés | MEDLINE | ID: mdl-27784318

RESUMEN

BACKGROUND: Mutations in the human progressive ankylosis gene (ANKH; Mus musculus ortholog Ank) have been identified as cause for craniometaphyseal dysplasia (CMD), characterized by progressive thickening of craniofacial bones and flared metaphyses of long bones. We previously reported a knock-in (KI) mouse model (Ank KI/KI) for CMD and showed transiently lower serum phosphate (Pi) as well as significantly higher mRNA levels of fibroblast growth factor 23 (Fgf23) in Ank KI/KI mice. FGF23 is secreted by bone and acts in kidney to promote Pi wasting which leads to lower serum Pi levels. Here, we examined whether increasing the Pi level can partially rescue the CMD-like skeletal phenotype by feeding Ank +/+ and Ank KI/KI mice with high Pi (1.7 %) diet from birth for 6 weeks. We studied the Pi metabolism in Ank KI/KI mice and CMD patients by examining the Pi regulators FGF23 and parathyroid hormone (PTH). RESULTS: High Pi diet did not correct CMD-like features, including massive jawbone, increased endosteal and periosteal perimeters and extensive trabeculation of femurs in Ank KI/KI mice shown by computed microtomography (µCT). This unexpected negative result is, however, consistent with normal serum/plasma levels of the intact/active form of FGF23 and PTH in Ank KI/KI mice and in CMD patients. In addition, FGF23 protein expression was unexpectedly normal in Ank KI/KI femoral cortical bone as shown by immunohistochemistry despite increased mRNA levels for Fgf23. Renal expression of genes involved in the FGF23 bone-kidney axis, including mFgfr1, mKlotho, mNpt2a, mCyp24a1 and m1αOHase, were comparable between Ank +/+ and Ank KI/KI mice as shown by quantitative real-time PCR. Different from normal FGF23 and PTH, serum 25-hydroxyvitamin D was significantly lower in Ank KI/KI mice and vitamin D insufficiency was found in four out of seven CMD patients. CONCLUSIONS: Our data suggests that FGF23 signaling and Pi metabolism are not significantly affected in CMD and transiently low Pi level is not a major contributor to CMD.


Asunto(s)
Enfermedades del Desarrollo Óseo/tratamiento farmacológico , Huesos/patología , Anomalías Craneofaciales/tratamiento farmacológico , Dieta , Suplementos Dietéticos , Hiperostosis/tratamiento farmacológico , Hipertelorismo/tratamiento farmacológico , Fosfatos/uso terapéutico , Adolescente , Animales , Peso Corporal/efectos de los fármacos , Enfermedades del Desarrollo Óseo/sangre , Enfermedades del Desarrollo Óseo/genética , Huesos/diagnóstico por imagen , Huesos/efectos de los fármacos , Niño , Anomalías Craneofaciales/sangre , Anomalías Craneofaciales/genética , Modelos Animales de Enfermedad , Femenino , Factor-23 de Crecimiento de Fibroblastos , Factores de Crecimiento de Fibroblastos/metabolismo , Regulación de la Expresión Génica/efectos de los fármacos , Humanos , Hiperostosis/sangre , Hiperostosis/genética , Hipertelorismo/sangre , Hipertelorismo/genética , Riñón/efectos de los fármacos , Riñón/metabolismo , Masculino , Ratones Endogámicos C57BL , Persona de Mediana Edad , Tamaño de los Órganos/efectos de los fármacos , Hormona Paratiroidea/sangre , Fenotipo , Fosfatos/farmacología , Vitamina D/análogos & derivados , Vitamina D/sangre , Microtomografía por Rayos X
12.
Osteoporos Int ; 27(7): 2367-2372, 2016 07.
Artículo en Inglés | MEDLINE | ID: mdl-27059923

RESUMEN

UNLABELLED: Debilitating rickets-like lower limb deformities are common in children throughout the world, particularly in Malawi, Africa where the causes are unknown. We have identified that Blount disease and calcium deficiency rickets are the likely causes of these deformities and propose calcium supplementation as a potential treatment of Malawian rickets. INTRODUCTION: Surgical correction of rickets-like lower limb deformities is the most common paediatric operation performed at Beit Cure Orthopaedic Hospital, Malawi. The aim of this study was to investigate the aetiology of these deformities. METHODS: Children with a tibio-femoral angle of deformity >20° were enrolled (n = 42, 3.0-15.0 years). Anthropometric and early life and well-being data were collected. Early morning serum and urine samples were collected on the morning of the operation for markers of calcium and phosphate homeostasis. Knee radiographs were obtained, and the children were diagnosed with either Blount (BD, n = 22) or evidence of rickets disease (RD, n = 20). As BD is a mechanical rather than metabolic disease, BD were assumed to be biochemically representative of the local population and thus used as a local reference for RD. RESULTS: There were no differences in anthropometry or early life experiences between BD and RD. Parathyroid hormone (PTH), 1,25-dihydroxyvitamin D, total alkaline phosphatase and urinary phosphate were significantly higher and serum phosphate, 25-hydroxyvitamin D (25OHD) and tubular maximal reabsorption of phosphate significantly lower in RD than BD. There was no difference in serum calcium, fibroblast growth factor 23 or markers of iron status between groups. All children had 25OHD > 25 nmol/L. CONCLUSIONS: Vitamin D deficiency is not implicated in the aetiology of RD or BD in Malawian children. The cause of RD in Malawi is likely to be dietary calcium deficiency leading to elevated PTH resulting in increased losses of phosphate from the bone and glomerular filtrate. The causes of BD remain unclear; there was no evidence in support of previously suggested risk factors such as being overweight or starting to walk early. Prior to surgical intervention, supplementation with calcium should be considered for children with RD.


Asunto(s)
Enfermedades del Desarrollo Óseo/etiología , Extremidad Inferior/patología , Osteocondrosis/congénito , Raquitismo/etiología , Fosfatasa Alcalina/análisis , Calcio/análisis , Niño , Preescolar , Femenino , Humanos , Malaui/epidemiología , Masculino , Osteocondrosis/etiología , Hormona Paratiroidea/análisis , Fosfatos/análisis , Vitamina D/análogos & derivados , Vitamina D/análisis
13.
Clin Chim Acta ; 456: 122-127, 2016 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-26820766

RESUMEN

BACKGROUND: Craniometaphyseal dysplasia (CMD) is a rare genetic disorder that is characterized by progressive sclerosis of the craniofacial bones and metaphyseal widening of long bones, and biochemical indexes were mostly normal. To further the understanding of the disease from a biochemical perspective, we reported a CMD case with obviously abnormal biochemical indexes. CASE REPORT: A 1-year-old boy was referred to our clinic. Biochemical test showed obviously increased alkaline phosphatase (ALP) and parathyroid hormone (PTH), mild hypocalcemia and hypophosphatemia. Moreover, significant elevated receptor activator of nuclear factor kappa-B ligand (RANKL) level, but normal ß-C-terminal telopeptide of type I collagen (ß-CTX) concentration were revealed. He was initially suspected of rickets, because the radiological examination also showed broadened epiphysis in his long bones. Supplementation with calcium and calcitriol alleviated biochemical abnormality. However, the patient gradually developed osteosclerosis which was inconformity with rickets. Considering that he was also presented with facial paralysis and nasal obstruction symptom, the diagnosis of craniometaphyseal dysplasia was suspected, and then was confirmed by the mutation analysis of ANKH of the proband and his family, which showed a de novo heterozygous mutation (C1124-1126delCCT) on exon 9. CONCLUSIONS: Our study revealed that obvious biochemical abnormality and rickets-like features might present as uncommon characteristics in CMD patients, and the calcium and calcitriol supplementation could alleviate biochemical abnormalities. Furthermore, although early osteoclast differentiation factor was excited in CMD patient, activity of osteoclast was still inert.


Asunto(s)
Enfermedades del Desarrollo Óseo/complicaciones , Enfermedades del Desarrollo Óseo/metabolismo , Anomalías Craneofaciales/complicaciones , Anomalías Craneofaciales/metabolismo , Hiperostosis/complicaciones , Hiperostosis/metabolismo , Hipertelorismo/complicaciones , Hipertelorismo/metabolismo , Raquitismo/complicaciones , Fosfatasa Alcalina/metabolismo , Enfermedades del Desarrollo Óseo/genética , Anomalías Craneofaciales/genética , Exones/genética , Femenino , Heterocigoto , Humanos , Hiperostosis/genética , Hipertelorismo/genética , Hipocalcemia/complicaciones , Hipofosfatemia/complicaciones , Lactante , Masculino , Mutación , Hormona Paratiroidea/metabolismo , Linaje , Proteínas de Transporte de Fosfato/genética
14.
J Pediatr Orthop ; 36(4): 370-5, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25851683

RESUMEN

BACKGROUND: The purpose of this study is to describe the natural history of hip morphology in patients with mucopolysaccharidoses (MPS) I and MPS II. METHODOLOGY: This is a retrospective radiographic analysis of 88 hips in 44 children with MPS I and II. Radiographs were examined to determine hip migration, femoral head sphericity, and acetabular dysplasia at different ages throughout childhood. In individual hips, change in morphology and rate of change were analyzed. RESULTS: There was a high rate of hip migration and femoral head dysplasia in both MPS I and MPS II. Progressive migration was seen in three quarters of hips and progressive femoral head deformity in over half of hips. Acetabular dysplasia was variable, ranging from normal to severely dysplastic, but did not change with time. Overall, hips were more dysplastic in MPS I than MPS II. CONCLUSIONS: Hip morphology is variable in MPS I and MPS II ranging from almost normal to severely dysplastic. Some hips do not deteriorate with time and thus surgical intervention may not be necessary in all cases. Deterioration is slow allowing time to plan a holistic approach to treatment. LEVEL OF EVIDENCE: Level IV-case series.


Asunto(s)
Acetábulo/diagnóstico por imagen , Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Cabeza Femoral/diagnóstico por imagen , Luxación Congénita de la Cadera/diagnóstico por imagen , Articulación de la Cadera/diagnóstico por imagen , Mucopolisacaridosis II/diagnóstico por imagen , Mucopolisacaridosis I/diagnóstico por imagen , Adolescente , Enfermedades del Desarrollo Óseo/etiología , Niño , Preescolar , Femenino , Luxación de la Cadera , Luxación Congénita de la Cadera/etiología , Humanos , Masculino , Mucopolisacaridosis I/complicaciones , Mucopolisacaridosis II/complicaciones , Radiografía , Estudios Retrospectivos
15.
Skeletal Radiol ; 43(11): 1651-4, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25037730

RESUMEN

We report two sisters who have a rare skeletal abnormality termed Patterson-Lowry rhizomelic dysplasia. The typical findings of these cases on bone survey are isolated shortening and proximal metaphyseal enlargement and cupping of the bilateral humeri. The elder sister also has coxa vara deformity and dysplastic proximal femoral epiphyses on both sides. The younger sister has normal hip joint bones bilaterally, but her proximal femoral epiphyses are smaller than normal. All other bones of the sisters are of normal size and configuration. Our patients are two siblings, and their parents are first degree relatives, suggesting autosomal-recessive (AR) inheritance. The present patients help us to understand the genetic relationships and skeletal variabilities of this rare entity.


Asunto(s)
Anomalías Múltiples/diagnóstico por imagen , Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Coxa Vara/diagnóstico por imagen , Fémur/anomalías , Deformidades Congénitas de la Mano/diagnóstico por imagen , Húmero/anomalías , Húmero/diagnóstico por imagen , Pelvis/anomalías , Hermanos , Columna Vertebral/anomalías , Preescolar , Femenino , Fémur/diagnóstico por imagen , Humanos , Pelvis/diagnóstico por imagen , Radiografía , Columna Vertebral/diagnóstico por imagen
16.
J Nutr Biochem ; 25(6): 623-33, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24746838

RESUMEN

Omega-3 fatty acids (FAs) are essential nutritional components that must be obtained from foods. Increasing evidence validate that omega-3 FAs are beneficial for bone health, and several mechanisms have been suggested to mediate their effects on bone, including alterations in calcium absorption and urinary calcium loss, prostaglandin synthesis, lipid oxidation, osteoblast formation and inhibition of osteoclastogenesis. However, to date, there is scant information regarding the effect of omega-3 FAs on the developing skeleton during the rapid growth phase. In this study we aim to evaluate the effect of exposure to high levels of omega-3 FAs on bone development and quality during prenatal and early postnatal period. For this purpose, we used the fat-1 transgenic mice that have the ability to convert omega-6 to omega-3 fatty acids and the ATDC5 chondrogenic cell line as models. We show that exposure to high concentrations of omega-3 FAs at a young age accelerates bone growth through alterations of the growth plate, associated with increased chondrocyte proliferation and differentiation. We further propose that those effects are mediated by the receptors G-protein coupled receptor 120 (GPR120) and hepatic nuclear factor 4α, which are expressed by chondrocytes in culture. Additionally, using a combined study on the structural and mechanical bone parameters, we show that high omega-3 levels contribute to superior trabecular and cortical structure, as well as to stiffer bones and improved bone quality. Most interestingly, the fat-1 model allowed us to demonstrate the role of maternal high omega-3 concentration on bone growth during the gestation and postnatal period.


Asunto(s)
Desarrollo Óseo , Enfermedades del Desarrollo Óseo/prevención & control , Huesos/patología , Ácidos Grasos Omega-3/biosíntesis , Osteogénesis , Animales , Densidad Ósea , Enfermedades del Desarrollo Óseo/enzimología , Enfermedades del Desarrollo Óseo/metabolismo , Enfermedades del Desarrollo Óseo/patología , Huesos/citología , Huesos/metabolismo , Proteínas de Caenorhabditis elegans/genética , Proteínas de Caenorhabditis elegans/metabolismo , Línea Celular , Proliferación Celular , Condrocitos/citología , Condrocitos/metabolismo , Condrocitos/patología , Ácido Graso Desaturasas/genética , Ácido Graso Desaturasas/metabolismo , Ácidos Grasos Omega-3/uso terapéutico , Femenino , Factor Nuclear 4 del Hepatocito/agonistas , Factor Nuclear 4 del Hepatocito/metabolismo , Heterocigoto , Masculino , Ratones , Ratones Endogámicos C57BL , Ratones Transgénicos , Receptores Acoplados a Proteínas G/agonistas , Receptores Acoplados a Proteínas G/metabolismo , Caracteres Sexuales , Organismos Libres de Patógenos Específicos
17.
Rev Invest Clin ; 65(1): 39-51, 2013.
Artículo en Español | MEDLINE | ID: mdl-23745443

RESUMEN

INTRODUCTION: Propranolol (P) treatment exerts a preventive effect against the detrimental consequences to bone status in mildly chronically food-restricted growing rats (NGR) by an increment in cortical bone and by improving its spatial distribution. OBJECTIVE: To study the effect of beta-blocker on operational mechanism of bone mechanostat in an animal model of nutritional stress. MATERIAL AND METHODS: Weanling male Wistar rats were randomly assigned to four groups: control (C), C + P (CP), NGR and NGR + P (NGRP). C and CP rats were fed freely with the standard diet. NGR and NGRP rats received, for 4 weeks, 80% of the amount of food consumed by C and CP respectively, the previous day, corrected by body weight. Propranolol (7 mg/kg/day) was injected ip 5 days per week, for four weeks in CP and NGRP rats. C and NGR received saline injections at an identical dosage regimen. Body weight and length were determined during the experimental period. Dietary intake was registered daily. Animals were sacrificed after 4 weeks of food restriction. Immediately, cuadriceps, femur and tibiae from each animal were dissected and weighed, and histomorphometric and mechanical studies were performed. Serum a-CTX, osteocalcin, intact PTH, calcium and phosphorous were determined. Body protein (% prot) was measured in all groups. RESULTS: Food restriction induced detrimental effects on body and femoral growth, load-bearing capacity (Wf), % prot and cuadriceps weight in NGR us. C (p < 0.01). beta-blocker did not modify anthropometric and bone morphometric parameters in NGRP and CP us. NGR and C, respectively (p > 0.05). However, Wf NGRP vs. NGR was significantly higher (p < 0.01). alpha-CTX was significantly higher in NGR vs. C (p < 0.01). No significant differences were observed in alpha-CTX levels between CP, NGRP and C (p > 0.05). Serum osteocalcin, intact PTH, calcium and phospho- rous showed no significant difference between groups (p > 0.05). CONCLUSION: These results suggest that modeling increase in bone mass and strength in NGRP rats could be due to an anticatabolic interaction of the beta-blocker propranolol on operational mechanism of bone mechanostat in an animal model of nutritional stress.


Asunto(s)
Antagonistas Adrenérgicos beta/uso terapéutico , Enfermedades del Desarrollo Óseo/prevención & control , Privación de Alimentos/fisiología , Trastornos del Crecimiento/prevención & control , Desnutrición/fisiopatología , Propranolol/uso terapéutico , Antagonistas Adrenérgicos beta/farmacología , Animales , Biomarcadores , Peso Corporal/efectos de los fármacos , Enfermedades del Desarrollo Óseo/sangre , Enfermedades del Desarrollo Óseo/etiología , Enfermedades del Desarrollo Óseo/patología , Remodelación Ósea/efectos de los fármacos , Colágeno Tipo I/sangre , Módulo de Elasticidad/efectos de los fármacos , Fémur/efectos de los fármacos , Fémur/patología , Trastornos del Crecimiento/sangre , Trastornos del Crecimiento/etiología , Trastornos del Crecimiento/patología , Masculino , Desnutrición/tratamiento farmacológico , Minerales/sangre , Músculo Esquelético/efectos de los fármacos , Músculo Esquelético/patología , Tamaño de los Órganos/efectos de los fármacos , Hormona Paratiroidea/sangre , Péptidos/sangre , Propranolol/farmacología , Proteínas/análisis , Distribución Aleatoria , Ratas , Ratas Wistar , Soporte de Peso
18.
Folia Histochem Cytobiol ; 50(3): 436-43, 2012 Oct 08.
Artículo en Inglés | MEDLINE | ID: mdl-23042276

RESUMEN

Caffeine is a methylxanthine which permeates the placenta. In studies on animals, it has been shown to produce teratogenic and embryotoxic effects in large doses. The objective of this study was to assess the influence of caffeine on the development of bone tissue, with particular reference to elemental bone composition using an X-ray microprobe. The research was conducted on rats. The fertilized females were randomly divided into an experimental and a control group. The experimental group was given caffeine orally in 30 mg/day doses from the 8th to the 21st day of pregnancy, while the control group was given water. The fetuses were used to assess the growth and mineralization of the skeleton. On the basis of double dyeing, a qualitative analysis of the bone morphology and mineralization was conducted. For calcium and potassium analysis, an X-ray microprobe was used. In 67 fetuses from the experimental group, changes in skeleton staining with the alcian-alizarin method were noticed. The frequency of the development of variants in the experimental group was statistically higher. In the experimental group,a significant decrease in the calcium level, as well as an increase in the potassium level, was observed. The X-ray microprobe's undoubted advantage is that is offers a quick qualitative and quantitative analysis of the elemental composition of the examined samples. Employing this new technique may furnish us with new capabilities when investigating the essence of the pathology process.


Asunto(s)
Desmineralización Ósea Patológica/diagnóstico por imagen , Huesos/diagnóstico por imagen , Huesos/patología , Cafeína/administración & dosificación , Cafeína/efectos adversos , Animales , Enfermedades del Desarrollo Óseo/patología , Huesos/efectos de los fármacos , Huesos/embriología , Calcio/metabolismo , Femenino , Potasio/metabolismo , Radiografía , Ratas , Ratas Wistar , Rayos X
19.
Vet J ; 193(2): 336-43, 2012 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22633829

RESUMEN

Congenital chondrodystrophy of unknown origin (CCUO), often referred to as 'acorn calf disease' or congenital joint laxity and dwarfism (CJLD), has been reported in beef cattle in Canada, the United States, Europe, South Africa, New Zealand and Australia. An association of CCUO with grazing drought-affected pastures, feeding hay-only or silage-only diets or supplementation with apple pulp suggests a nutritional cause such as a mineral deficiency. This review compares published reports on CCUO in order to identify common features among outbreaks and to provide a basis for future research into the condition. A protocol for investigation of outbreaks is provided to improve the outcome of future comparisons.


Asunto(s)
Enfermedades del Desarrollo Óseo/veterinaria , Enfermedades de los Bovinos/congénito , Brotes de Enfermedades/veterinaria , Crianza de Animales Domésticos , Animales , Enfermedades del Desarrollo Óseo/congénito , Enfermedades del Desarrollo Óseo/epidemiología , Enfermedades del Desarrollo Óseo/etiología , Bovinos , Enfermedades de los Bovinos/epidemiología , Enfermedades de los Bovinos/etiología , Factores de Riesgo
20.
Cir Cir ; 80(1): 11-7, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22472147

RESUMEN

BACKGROUND: Thoracic scoliosis is a lateral curvature of the spine associated with restrictive lung defects, manifested by a decrease in respiratory function tests. We undertook this study to evaluate the effect of a respiratory rehabilitation program over lung function in children with scoliosis. METHODS: We carried out a prospective and deliberate intervention study including 25 consecutive patients, aged 6 to 18 years, diagnosed with thoracic scoliosis. The respiratory rehabilitation program was structured into two phases: institutional and private residence. Statistical analysis was carried out using descriptive parameters and paired t-test and Wilcoxon signed-ranks test. Spearman correlation was used to measure intensity of association among variables. Statistical significance was considered when p <0.05. RESULTS: Idiopathic scoliosis was present in 52% of patients, with right dorsal curvature in 72%. Cobb angle average was 50.6° ± 29.7°. Most importantly, we found a negative correlation between this angle on left curvature and lung function. Initially, the main respiratory symptoms were dyspnea with poor effort tolerance in 52%. After treatment, 88% of patients were asymptomatic and only 4% presented poor effort tolerance. Oxygen saturation and forced vital capacity percentage had a significant increment after the program. CONCLUSION: Respiratory rehabilitation has a positive effect on increasing pulmonary function of children with scoliosis.


Asunto(s)
Insuficiencia Respiratoria/rehabilitación , Terapia Respiratoria , Escoliosis/complicaciones , Adolescente , Enfermedades del Desarrollo Óseo/complicaciones , Niño , Disnea/etiología , Disnea/rehabilitación , Tolerancia al Ejercicio , Femenino , Servicios de Atención a Domicilio Provisto por Hospital , Humanos , Hipercapnia/etiología , Hipercapnia/rehabilitación , Masculino , Neurofibromatosis/complicaciones , Evaluación de Programas y Proyectos de Salud , Estudios Prospectivos , Ventilación Pulmonar , Radiografía , Terapia por Relajación , Insuficiencia Respiratoria/etiología , Servicio de Terapia Respiratoria en Hospital , Escoliosis/congénito , Escoliosis/diagnóstico por imagen , Resultado del Tratamiento , Capacidad Vital
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