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1.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-771937

RESUMO

OBJECTIVE@#To explore the molecular basis for a pedigree affected with spondyloepiphyseal dysplasia congenita (SEDC).@*METHODS@#The proband was subjected to whole exome sequencing. Suspected variant was verified by Sanger sequencing.@*RESULTS@#All patients from the pedigree were found to carry a novel missense variant c.1394G>C (p.Gly465Ala) of the COL2A1 gene. The variant was not reported previously. Provean, Polyphen-2 and Mutation Taster software predicted that the variant is highly likely to be pathogenic.@*CONCLUSION@#The c.1394G>C (p.Gly465Ala) variant of the COL2A1 gene probably underlies the SEDC in this pedigree.


Assuntos
Grupo com Ancestrais do Continente Asiático , Colágeno Tipo II , Genética , Humanos , Osteocondrodisplasias , Genética , Linhagem
2.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781842

RESUMO

Kidney tumor is one of the diseases threatening human health. Ultrasound is widely applied in kidney tumor diagnosis due to its high popularization, low price and no radiation. Accurate segmentation of kidney tumor is the basis of precise treatment. Kidney tumors often grow in the middle of cortex, so that segmentation is easy disturbed by nearby organs. Besides, ultrasound images own low contrast and large speckle, leading to difficult segmentation. This paper proposed a novel kidney tumor segmentation method in ultrasound images using adaptive sub-regional evolution level set models (ASLSM). Regions of interest are firstly divided into subareas. Secondly, object function is designed by integrating inside and outside energy and gradient, in which the ratio of these two parts are adjusted adaptively. Thirdly, ASLSM adapts convolution radius and curvature according to centroid principle and similarity inside and outside zero level set. Hausdorff distance (HD) of (8.75 ± 4.21) mm, mean absolute distance (MAD) of (3.26 ± 1.69) mm, dice-coefficient (DICE) of 0.93 ± 0.03 were obtained in the experiment. Compared with traditional ultrasound segmentation method, ASLSM is more accurate in kidney tumor segmentation. ASLSM may offer convenience for doctor to locate and diagnose kidney tumor in the future.


Assuntos
Algoritmos , Retardo do Crescimento Fetal , Humanos , Processamento de Imagem Assistida por Computador , Neoplasias Renais , Osteocondrodisplasias , Ultrassonografia
3.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-774106

RESUMO

The patient was a female infant aged 1 month and 29 days. She was admitted to the hospital due to convulsions for 6 days and increased blood glucose level for 5 days. She had unstable blood glucose levels. The level of glycosylated hemoglobin was too high to measure. Urine glucose was positive (+ - ++++). The levels of fasting C-peptide and insulin were 0.19 ng/mL and 11.68 μIU/mL respectively. High-throughput sequencing of the genetic endocrine disease gene Panel (412 detected genes, including 49 known diabetes-related genes) showed that the EIF2AK3 gene in the infant had two novel compound heterozygous mutations, c.2731_2732delAG and c.2980G>A, both of which were located in the kinase domain. The infant was diagnosed with Wolcott-Rallison syndrome (WRS). As a rare autosomal recessive disease, WRS is characterized by neonatal diabetes, multiple epiphyseal dysphasia and liver disease. Neonatal diabetes is a prerequisite for the diagnosis of WRS. The EIF2AK3 gene is the pathogenic gene of WRS.


Assuntos
Diabetes Mellitus Tipo 1 , Epífises , Anormalidades Congênitas , Feminino , Humanos , Lactente , Mutação , Osteocondrodisplasias , eIF-2 Quinase
4.
Rev. Asoc. Argent. Ortop. Traumatol ; 83(4): 291-297, dic. 2018. ilus
Artigo em Espanhol | LILACS (Américas) | ID: biblio-984996

RESUMO

La displasia epifisaria hemimélica o enfermedad de Trevor es una deformidad osteocartilaginosa en la región epifisaria. Es poco frecuente y predomina en el sexo masculino. Se desarrolla en la infancia cuando los cartílagos de crecimiento están abiertos, y afecta principalmente el tobillo y la rodilla. Su origen es desconocido. Se presentan tres casos con distinto grado de compromiso y las alternativas terapéuticas. Un solo caso quirúrgico por equino irreductible. Se detallan la técnica quirúrgica, el manejo posoperatorio y el resultado de anatomía patológica. Se recomienda operar sólo a pacientes con alguna limitación funcional o severa deformidades por el alto índice de recidiva. Nivel de Evidencia: IV


Dysplasia epiphysealis hemimelica or Trevor's disease is an osteocartilaginous deformity in the epiphyseal region. It is an uncommon entity, and predominates in the male sex. It develops during childhood, when growth cartilages are open, and mainly affects the ankle and knee. Its origin is unknown. Three cases with different degree of involvement and therapeutic alternatives are presented. Only one surgical case due to irreductible equinovarus. Surgical technique, postoperative management and result of pathological anatomy are explained. We recommend surgery only for patients with some functional limitation or severe deformities due to its high rate of relapse. Level of Evidence: IV


Assuntos
Criança , Adolescente , Adulto , Osteocondrodisplasias , Doenças do Desenvolvimento Ósseo , Epífises/patologia , Articulação do Tornozelo/patologia
5.
Rev. chil. cir ; 70(4): 373-381, ago. 2018. ilus
Artigo em Espanhol | LILACS (Américas) | ID: biblio-959399

RESUMO

Resumen Las deformidades de la caja torácica se pueden dividir en dos tipos, las que son productos del desarrollo anormal del pecho en el crecimiento y las congénitas que son las secundarias a una malformación estructural del pecho evidente en el nacimiento. Las malformaciones del desarrollo son las más comunes, como por ejemplo pectus excavatum o pectun carinatum. Las menos comunes son las de tipo congénito: síndrome de Poland, displasia espondilotorácica, displasia espondilocostal, síndrome de Jeune y los defectos de la costilla o el esternón. Las deformidades del pecho de tipo congénita se caracterizan por afectar la relación entre la columna vertebral, la caja torácica y los pulmones. La mayoría de estos pacientes desarrollan un disturbio respiratorio progresivo de tipo restrictivo conocido como Síndrome de Insuficiencia Torácica. Este síndrome se define como la deficiencia de la caja torácica para mantener una respiración normal y sostener el crecimiento fisiológico del pulmón. En este artículo discutiremos varias condiciones que afectan el desarrollo y función de la caja torácica.


Chest wall deformities are divided as an abnormal development during the growth or those secondary to a congenital malformation. The developmental type is the most common: pectus excavatum or pectus carinatum. The less common are the congenital types of chest wall abnormalities: Poland's syndrome, Jeune's syndrome, espondylothoracic dysplasia, espondylocostal dysplasia and defects of the ribs or sternum. The congenital type usually affects the relationship between the spine, rib cage and the lungs. Therefore, many of these patients will develop a progressive respiratory disturbance of restrictive type known as Thoracic Insufficiency Syndrome. Thoracic insufficiency syndrome is defining as a deficiency of the rib cage to maintain a normal respiration and to sustain the physiological growth of the lungs. In this article will discuss several conditions that will affect the development and function of the chest wall.


Assuntos
Humanos , Osteocondrodisplasias/diagnóstico , Síndrome de Poland/diagnóstico , Tórax/anormalidades , Pectus Carinatum/diagnóstico , Tórax em Funil/diagnóstico , Osteocondrodisplasias/terapia , Síndrome de Poland/terapia , Pectus Carinatum/terapia , Tórax em Funil/terapia
6.
Rev. Asoc. Argent. Ortop. Traumatol ; 83(1): 50-53, mar. 2018. ilus
Artigo em Espanhol | LILACS (Américas) | ID: biblio-896290

RESUMO

La condrodisplasia de Grebe es un trastorno raro autosómico recesivo que pertenece al grupo de las osteocondrodisplasias. Clínicamente se caracteriza por un severo dismorfismo con una marcada micromelia y deformidad de las extremidades inferiores y superiores. Conocer este tipo de síndrome orienta a dar mejores diagnósticos y permite el diagnóstico diferencial con patologías más comunes, como la acondroplasia. Se presenta una paciente de 35 años con diagnóstico de síndrome de Grebe desde los 10 años. El síndrome de Grebe tiene una muy baja incidencia; por este motivo, es poco conocido por el cuerpo médico en general y aun menos para los ortopedistas, quienes serán los encargados de tratar a estos pacientes. Nivel de Evidencia: IV


Grebe syndrome is a rare autosomal recessive disorder that belongs to the group of osteochondrodysplasias. Clinically, it is characterized by severe dysmorphism, marked micromelia and deformities of the lower and upper limbs. Recognition of this syndrome allows to give better diagnoses and to establish a differential diagnosis with more common pathologies, such as achondroplasia. We present a 35-year-old woman with diagnosis of Grebe syndrome at the age of 10. Grebe syndrome has a very low incidence; therefore, it is unknown by general physicians and still less by orthopedic surgeons, who will treat these patients. Level of Evidence: IV


Assuntos
Adulto , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/diagnóstico por imagem , Deformidades Congênitas dos Membros/diagnóstico , Anormalidades Musculoesqueléticas/diagnóstico
7.
Rev. cuba. obstet. ginecol ; 44(1): 1-6, ene.-mar. 2018. ilus
Artigo em Espanhol | LILACS (Américas) | ID: biblio-978438

RESUMO

Las displasias músculo-esqueléticas o también conocidas como osteocondrodisplasias o displasias esqueléticas, constituyen un grupo heterogéneo de trastornos que afectan el crecimiento, la morfología y el desarrollo de ese sistema. El diagnóstico prenatal de una displasia esquelética específica es difícil y la Osteogénesis imperfecta tipo II es una de ellas. El objetivo del trabajo es resaltar la importancia del diagnóstico precoz de malformaciones congénitas y/o defectos estructurales del feto, por ultrasonografía, en la atención primaria de salud. Presentamos las imágenes ecográficas de un feto afectado por una displasia esquelética a las 18 semanas. Previo asesoramiento genético y dado el mal pronóstico con que cursan estos casos de displasias esqueléticas letales, la paciente decidió la terminación del embarazo. El diagnóstico de displasia esquelética fue confirmado por Anatomía Patológica e Imagenología(AU)


Skeletal dysplasias, also known as osteochondrodysplasias, refer to a group of disorders described by abnormalities in the development, growth, and maintenance of both bone and cartilage. The prenatal diagnosis of skeletal dysplasia is very difficult and the lethal osteogenesis imperfect type II is the only one that can be consistently detected in utero. To highlight the importance of early diagnosis of congenital malformations by ultrasonography in primary health care. We present the sonographic images of a fetus affected by skeletal dysplasia at 18 weeks. After genetic counseling and given the poor prognosis with cases of skeletal lethal dysplasias, the patient decided to terminate the pregnancy. The diagnosis of skeletal dysplasia was confirmed by Pathology and Imaging(AU)


Assuntos
Humanos , Feminino , Gravidez , Osteocondrodisplasias/epidemiologia , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/patologia , Ultrassonografia Pré-Natal/métodos
8.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-758773

RESUMO

Tibial dyschondroplasia (TD) cases has not been reported in Tibetan chickens (TBCs), but it is commonly seen in commercial broilers characterized by lameness. The underlying mechanism remains unclear. Hypoxia-inducible factors (HIFs) are important regulators of cellular adaptation to hypoxic conditions. In this study, we investigated the role of HIF-1α,


Assuntos
Hipóxia , Western Blotting , Galinhas , Lâmina de Crescimento , Osteocondrodisplasias , Aves Domésticas , Reação em Cadeia da Polimerase Via Transcriptase Reversa , RNA , Tiram
9.
J. bras. pneumol ; 43(2): 151-153, Mar.-Apr. 2017. graf
Artigo em Inglês | LILACS (Américas) | ID: biblio-841271

RESUMO

ABSTRACT Tracheobronchopathia osteochondroplastica is a rare benign disease, of unknown cause, characterized by numerous sessile, cartilaginous, or bony submucosal nodules distributed throughout the anterolateral walls, projecting into the laryngotracheobronchial lumen. In general, tracheobronchopathia osteochondroplastica is diagnosed incidentally during bronchoscopy or autopsy and is not associated with a specific disease. We report the case of a male patient who was diagnosed with tracheobronchopathia osteochondroplastica via bronchoscopy and biopsy.


RESUMO A traqueobroncopatia osteocondroplástica é uma doença benigna rara, de causa desconhecida, caracterizada por numerosos nódulos submucosos sésseis, cartilaginosos e/ou ósseos, distribuídos pelas paredes anterolaterais da traqueia, projetando-se no lúmen laringotraqueobrônquico. Em geral, a traqueobroncopatia osteocondroplástica é descoberta acidentalmente durante broncoscopias ou em necropsias e não é associada a uma doença específica. Relatamos o caso de um paciente que foi diagnosticado com traqueobroncopatia osteocondroplástica por broncoscopia e biópsia.


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Osteocondrodisplasias/diagnóstico , Doenças da Traqueia/diagnóstico , Biópsia , Broncopatias/diagnóstico por imagem , Broncopatias/patologia , Broncoscopia , Dispneia , Achados Incidentais , Osteocondrodisplasias/patologia , Tomografia Computadorizada por Raios X , Doenças da Traqueia/diagnóstico por imagem , Doenças da Traqueia/patologia
10.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wprim-177529

RESUMO

STUDY DESIGN: Retrospective study. OBJECTIVES: To evaluate the outcomes of dual growing rod treatment over a follow-up period of at least 2 years in patients with progressive pediatric spinal deformity. SUMMARY OF LITERATURE REVIEW: The dual growing rod treatment is safe and effective in curve correction and maintenance in patients with progressive pediatric spinal deformity. MATERIALS AND METHODS: Between 2009 to 2017, 14 patients who underwent dual growing rod treatment were followed up for more than 2 years. We analyzed their demographic and radiologic data, including age at surgery, sex, diagnosis, instrumented levels, number of total operations, number of lengthening procedures, interval of lengthening, Cobb angle, thoracic kyphosis angle, lumbar lordosis angle, T1-S1 length, and complications. RESULTS: The mean age of the patients was 11.0±2.9 years old. There were 10 male and 4 female patients, including 8 cases of neuromuscular scoliosis, 3 cases of idiopathic scoliosis, 2 cases of spondyloepiphyseal dysplasia, and 1 case of congenital scoliosis. The mean follow-up period was 42.4±14.0 months. The total number of operations was 6.6±2.6. The average number of lengthening procedures was 4.3±2.3 at an interval of 6.9±2.1 months. The Cobb angle improved from 60.4°±27.9° to 33.5°±19.7° after the initial treatment and 29.1°±16.4° after the last follow-up or final fusion. The T1-S1 length increased from 328.2±57.5 mm to 388.0±64.9 mm after the initial treatment and 424.9±64.4 mm after the last follow-up or final spinal fusion. The average growth rate was 11.5 mm/year. Six patients experienced 11 complications, of which 4 were Implant-related, and 7 were Infections. CONCLUSIONS: The dual growing rod technique is an effective and relatively safe treatment in patients with progressive pediatric spinal deformity.


Assuntos
Animais , Anormalidades Congênitas , Diagnóstico , Feminino , Seguimentos , Humanos , Cifose , Lordose , Masculino , Osteocondrodisplasias , Estudos Retrospectivos , Escoliose , Fusão Vertebral
11.
J. bras. nefrol ; 38(3): 370-373, July-Sept. 2016. tab
Artigo em Inglês | LILACS (Américas) | ID: lil-796187

RESUMO

Abstract Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case.


Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.


Assuntos
Humanos , Feminino , Criança , Osteocondrodisplasias/diagnóstico , Arteriosclerose/diagnóstico , Embolia Pulmonar/diagnóstico , Síndromes de Imunodeficiência/diagnóstico , Síndrome Nefrótica/diagnóstico , Doenças da Imunodeficiência Primária
12.
Rev. bras. ortop ; 51(4): 418-423, July-Aug. 2016. tab, graf
Artigo em Inglês | LILACS (Américas) | ID: lil-792737

RESUMO

ABSTRACT OBJECTIVE: To present our experience and preliminary results from using controlled hip dislocation to treat cam-like femoroacetabular impingement, in teenagers and young adults with sequelae of slipped capital femoral epiphysis. METHODS: This was a retrospective analysis on 15 patients who were treated in a tertiary-level hospital between 2011 and 2013. The following data were collected for analysis from these patients' files: demographic data, surgical procedure reports, joint mobility evaluations, patients' perceptions regarding clinical improvement and whether they would choose to undergo the operation again, previous hip surgery and complications. The exclusion criteria were: follow-up shorter than six months, the presence of any other hip disease, osteotomy of the proximal femur performed at the same time as the osteochondroplasty and incomplete medical files with regard to the information needed for the present study. RESULTS: Fifteen patients (17 hips) who underwent osteochondroplasty to treat femoroacetabular impingement were evaluated. Nine of them were women, the mean age was 18 years old and the minimum follow-up was two years. Two patients underwent osteochondroplasty bilaterally; eight patients were operated on the left side and five on the right side. In 14 cases, the greater trochanter was lowered (relative lengthening of the neck) in association with the osteochondroplasty. For 13 patients, their previous surgery consisted of fixation of an occurrence of slipped capital femoral epiphysis; for six patients (eight hips), flexor osteotomy was performed previously; and for one patient, hip arthroscopy was performed previously. Fourteen patients presented improvement of mobility and hip pain relief, in comparison with before the operation, and they said that they would undergo the operation again. Two complications were observed: one of loosening of the fixation of the greater trochanter and one of heterotopic ossification. CONCLUSION: The preliminary results from this study suggest that osteochondroplasty through controlled surgical hip dislocation is a good option for treating femoroacetabular impingement. Through this method, the patients reported achieving improvement of joint mobility and hip pain, with few complications.


RESUMO OBJETIVO: Relatar nossa experiência e os resultados preliminares com a luxação cirúrgica controlada do quadril no tratamento do impacto femoroacetabular (IFA) tipo CAM em adolescentes e adultos jovens com sequela de epifisiólise femoral proximal. MÉTODOS: Análise retrospectiva de 15 pacientes tratados em hospital terciário, onde foram selecionados prontuários de pacientes que fizeram o procedimento de 2011 até 2013. Os dados coletados para análise foram: dados demográficos, descrição do procedimento cirúrgico, avaliação da mobilidade articular, impressão subjetiva do paciente no que se refere à melhoria clínica e se optariam por fazer a cirurgia novamente, cirurgias anteriores no quadril e complicações. Foram excluídos pacientes com seguimento menor do que seis meses, portadores de outras doenças do quadril, submetidos a osteotomias do fêmur proximal no mesmo momento da osteocondroplastia e cujo prontuário estivesse incompleto quanto às informações necessárias para o presente estudo. RESULTADOS: Foram avaliados 15 pacientes e 17 quadris submetidos a osteocondroplastia para o tratamento do IFA, nove pacientes eram do sexo feminino, média de 18 anos e seguimento mínimo de dois anos. Quanto à lateralidade, oito pacientes foram operados do lado esquerdo e cinco do lado direito, além de dois pacientes nos quais a osteocondroplastia foi feita de forma bilateral. Em 14 casos, abaixamento do trocânter maior (alongamento relativo do colo) foi associado à osteocondroplastia. Treze pacientes tinham como cirúrgia prévia a fixação da epifisiólise, em seis (oito quadris) foi feita osteotomia flexora prévia e um fez uma artroscopia do quadril. Em 14 pacientes houve melhoria da mobilidade e da dor no quadril, quando comparada com o pré-operatório. Esses 14 pacientes relataram que fariam a cirurgia novamente. Foram observadas duas complicações, uma soltura da fixação do trocânter maior e uma ossificação heterotópica. CONCLUSÕES: Os resultados preliminares deste estudo sugerem que a osteocondroplastia pela técnica da luxação cirúrgica controlada do quadril é uma boa opção no tratamento do impacto femoroacetabular. Por esse método os pacientes relataram melhoria da mobilidade articular e dor no quadril e tiveram poucas complicações.


Assuntos
Humanos , Masculino , Feminino , Impacto Femoroacetabular , Luxação do Quadril , Articulação do Quadril , Osteocondrodisplasias
14.
São Paulo; s.n; s.n; 2016. 186 p. tab, graf, ilus.
Tese em Português | LILACS (Américas) | ID: biblio-846671

RESUMO

O nicho endosteal da medula óssea abriga as células-tronco hemopoéticas (CTH) em quiescência/autorrenovação. As CTH podem ser classificadas em dois grupos: células que reconstituem a hemopoese em longo prazo (LT-CTH) e curto prazo (CT-CTH). Investigamos, neste trabalho, os efeitos da desnutrição proteica (DP) no tecido ósseo e a participação do nicho endosteal na sinalização osteoblasto-CTH. Para tanto, utilizamos camundongos submetidos à DP induzida pelo consumo de ração hipoproteica. Os animais desnutridos apresentaram pancitopenia e diminuição nas concentrações de proteínas séricas e albumina. Quantificamos as CTH por citometria de fluxo e verificamos que os desnutridos apresentaram menor porcentagem de LT-CTH, CT-CTH e de progenitores multipotentes (PMP). Avaliamos a expressão das proteínas CD44, CXCR4, Tie-2 e Notch-1 nas LT-CTH. Observamos diminuição da expressão da proteína CD44 nos desnutridos. Isolamos as células LT-CTH por cell sorting e avaliamos a expressão gênica de CD44, CXCR4 e NOTCH-1. Verificamos que os desnutridos apresentaram menor expressão de CD44. Em relação ao ciclo celular, verificamos maior quantidade de LT-CTH nas fases G0/G1. Caracterizamos as alterações do tecido ósseo femoral, in vivo. Observamos diminuição da densidade mineral óssea e da densidade medular nos desnutridos. A desnutrição acarretou diminuição da área média das seções transversais, do perímetro do periósteo e do endósteo na cortical do fêmur dos animais. E na região trabecular, verificou-se diminuição da razão entre volume ósseo e volume da amostra e do número de trabéculas, aumento da distância entre as trabéculas e prevalência de trabéculas ósseas em formato cilíndrico. Avaliamos a expressão de colágeno, osteonectina (ON) e osteocalcina (OC) por imuno-histoquímica, e de osteopontina (OPN) por imunofluorescência no fêmur e verificamos diminuição da marcação para OPN, colágeno tipo I, OC e ON nos desnutridos. Evidenciamos, pela técnica do Picrosírius, desorganização na distribuição das fibras colágenas e presença de fibras tipo III nos fêmures dos desnutridos, além de maior número de osteoclastos evidenciados pela reação da fosfatase ácida tartarato resistente. Os osteoblastos da região femoral foram isolados por depleção imunomagnética, imunofenotipados por citometria de fluxo e cultivados em meio de indução osteogênica. Observamos menor positividade para fosfatase alcalina e vermelho de alizarina nas culturas dos osteoblastos dos desnutridos. Avaliamos, por Western Blotting, a expressão de colágeno tipo I, OPN, osterix, Runx2, RANKL e osteoprotegerina (OPG), e, por PCR em tempo real, a expressão de COL1A2, SP7, CXCL12, ANGPT1, SPP1, JAG2 e CDH2 nos osteoblastos isolados. Verificamos que a desnutrição acarretou diminuição da expressão proteica de osterix e OPG e menor expressão gênica de ANGPT1. Avaliamos a proliferação das células LSK (Lin-Sca1+c-Kit+) utilizando ensaio de CFSE (carboxifluoresceína succinimidil ester). Foi realizada cocultura de células LSK e osteoblastos (MC3T3-E1) na presença e ausência de anti-CD44. Após uma semana, verificamos menor proliferação das LSK dos desnutridos. O bloqueio de CD44 das LSK do grupo controle diminuiu a proliferação destas em três gerações. Entretanto, nos desnutridos, esse bloqueio não afetou a proliferação. Concluímos que a DP promoveu alterações no tecido ósseo e nas CTH. Entretanto, não podemos afirmar que as alterações observadas no sistema hemopoético foram decorrentes de alterações exclusivas do nicho endosteal


The bone marrow endosteal niche hosts hematopoietic stem cells (HSC) in quiescence/self-renewal. HSC can be classified into two groups: cells capable of renewing indefinitely (LT-HSC) or repopulating in the short term (ST-HSC). In this work, we investigated the effects of protein malnutrition (PM) on bone tissue and the involvement of the endosteal niche in osteoblast-CTH signaling. Therefore, we used mice subjected to PM induced by the consumption of hypoproteic feed. Malnourished animals presented pancytopenia and decreased concentration of serum protein and albumin. We quantified the HSC by flow cytometry and found that the malnourished ones had lower percentage of LT-HSC, ST-HSC and multipotent progenitors (MPP). We assessed the expression of the CD44, CXCR4, Tie-2 and Notch-1 proteins in LT-HSC. We observed decreased expression of CD44 protein with the malnourished ones. We isolated the LT-HSC cells by means of cell sorting and assessed the gene expression of CD44, CXCR4 and NOTCH-1. We found that malnutrition had lower expression of CD44. Regarding the cell cycle, we see greater amount of LT-HSC in the G0 and G1 phases. We characterized the changes of the femoral bone tissue in vivo. We observed a decrease in the bone mineral density and medullar density in malnourished animals. As for malnourished animals, the femoral cortical region showed a significant decrease in tissue area, periosteal and endosteal perimeter. The femoral trabecular region of malnourished animals showed decreased bone volume/tissue volume ratio, decreased trabecular number, increased trabecular separation and prevalence of rod-like trabeculae. We investigated the expression of collagen, osteonectin (ON) and osteocalcin (OC) by means of immunohistochemistry and the expression of osteopontin (OPN) by immunofluorescence and we found that malnourished animals showed decreased labeling for OPN, type I collagen, OC and ON in the cortical region of the femur. Picrosirius staining was used to analyze disorganization of collagen fibers and presence of type III fibers in the femurs of the malnourished. Cortical and trabecular regions of malnourished animals presented a higher number of osteoclasts as shown by tartrate-resistant acid phosphatase reaction. Moreover, osteoblasts were isolated from the femoral region by immunomagnetic depletion and immunophenotyped by flow cytometry and cultured in osteogenic induction medium. Results proved less positive for alkaline phosphatase and alizarin red in the cultures of osteoblasts of malnourished animals. We assessed, by means of Western blotting, type I collagen expression, OPN, osterix, Runx2, RANKL and osteoprotegerin (OPG) and, by real time PCR, the expression of COL1A2, SP7, CXCL12, ANGPT1, SPP1, JAG2 and CDH2 with the isolated osteoblasts. We found that malnutrition led to osterix and OPG decreased protein expression and lower ANGPT1 gene expression. We evaluated LSK cell (Lin-Sca1+c-Kit+) proliferation by CFSE (carboxyfluorescein succinimidyl ester). LSK cells and osteoblasts (MC3T3-E1) cocultures were performed in the presence and absence of anti-CD44. After a week, we found lower proliferation of LSK in the malnourished. The LSK CD44 blocking in the control group decreased the proliferation of these three generations. However, as for the malnourished, such blockage did not affect proliferation. We concluded that the PM has promoted changes in bone tissue and the CTH. However, we can't claim that the alterations observed in hematopoietic system were due to endosteal niche-only changes


Assuntos
Animais , Masculino , Camundongos , Desnutrição , Osteocondrodisplasias , Western Blotting/métodos , Medula Óssea , Células-Tronco Hematopoéticas/classificação , /complicações , Pesquisa com Células-Tronco
15.
IJMS-Iranian Journal of Medical Sciences. 2016; 41 (1): 64-66
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-175769

RESUMO

Congenital adrenal hyperplasia [CAH] is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 and Schmid dysplasia in a child. The specific diagnosis of 11-beta-hydroxylase deficiency can be determined using high basal levels of deoxycorticosterone and/or 11-deoxycortisol serums


Assuntos
Humanos , Masculino , Pré-Escolar , Osteocondrodisplasias/diagnóstico , Criança , Literatura , Desoxicorticosterona
16.
Yonsei Medical Journal ; : 1290-1293, 2016.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-79760

RESUMO

Spondyloepiphyseal dysplasia (SED) tarda is an inherited skeletal arthropathy. Because SED tarda involves the joints and resemble the clinical findings of chronic arthropathies, this disease is frequently misdiagnosed as juvenile idiopathic arthritis (JIA). We report here on three patients (father and his two daughters) in one family with SED tarda. All patients had back pain and polyarthralgia. Their radiographs revealed typical changes for SED tarda including platyspondyly and dysplastic bone changes. This rare disease has major clinical importance in that it is similar with JIA or rheumatoid arthritis.


Assuntos
Adulto , Artralgia/complicações , Dor nas Costas/complicações , Feminino , Humanos , Masculino , Osteocondrodisplasias/complicações , Linhagem , República da Coreia , Adulto Jovem
17.
Med. lab ; 21(1-2): 93-98, 2015. ilus, tab
Artigo em Espanhol | LILACS (Américas) | ID: biblio-907754

RESUMO

Resumen: dentro de las displasias óseas hay cuadros clínicos que hacen parte de las denominadas condrodisplasias metafisarias, conocidas también como disostosis metafisarias, las cuales presentan mínimas diferencias entre sí, lo que las hace susceptibles de ser confundidas con otros cuadros clínicos como la acondroplasia y el raquitismo. En este artículo se presenta un caso clínico de condrodisplasiametafisaria tipo Schmid de un paciente de Popayán, Colombia, al igual que algunas consideracionessobre las principales características clínicas, radiológicas, de diagnóstico y tipo de herencia de esta enfermedad. El caso clínico corresponde a un paciente de género masculino de 23 meses de edad, en quien se inician estudios por la presencia de talla baja desproporcionada. Los resultados mostraron coxa vara, genu varo y extremidades cortas, con un fenotipo similar en la madre y el abuelo materno. Las radiografías evidencian la presencia de irregularidad con “deshilachamiento” de las metáfisis de huesos largos; además, ensanchamiento y esclerosis en las metáfisis proximales de ambos fémur. La meta final es ser confirmado por medio de pruebas genéticas. En conclusión, las condrodisplasias metafisarias, especialmente la tipo Schmid, son enfermedades caracterizadas por talla baja y hallazgos radiológicos especiales, dados principalmente por el compromiso metafisario a nivel de los huesos largos, que en conjunto con las características fenotípicas pueden conducir a la sospecha e identificación de este tipo de patología.


Abstract: between the dysplastic bone pathologies there are some medical conditions that belong to so-called metaphyseal chondrodysplasias, also known as metaphyseal dysostosis. These differ slightly from each other, making them capable of being confused with other medical conditions such as achondroplasia and rickets. This article presents a case of Schmid type metaphyseal chondrodysplasiafrom Popayan, Colombia, as well as some considerations about the main clinical characteristics, radiological, diagnosis, and type of inheritance of this disease. The clinical case corresponds to a male patient, 23 months old, who was studied by the presence of disproportionate short stature. Findings showed coxa vara, genu varus, and short limbs, with similar phenotype to the mother and maternal grandfather. The radiological images showed the presence of irregularity with ®fraying¼ of the metaphysis of long bones, in addition to widening and sclerosis in the proximal metaphysis of both femurs. The ultimate goal is to be confirmed by genetic testing. In conclusion, the metaphyseal chondrodysplasias, especially Schmid type, are diseases characterized by short stature and by special radiological findings, mainly given by the metaphyseal affectation of long bones, which together with the phenotypic characteristics may lead to the suspicion and identification of this disease.Keywords: Schmid type metaphyseal chondrodysplasia, osteochondrodysplasias, collagen type.


Assuntos
Humanos , Condrodisplasia Punctata , Colágeno Tipo X , Osteocondrodisplasias , Radiografia
18.
Tunisie Medicale [La]. 2015; 93 (3): 170-174
em Francês | IMEMR (Mediterrâneo Oriental) | ID: emr-171790

RESUMO

Marshall syndrome is a rare autosomal dominant skeletal dysplasia. It associates a particular facial dysmorphism with midface hypoplasia, ocular abnormalities and sensorineural hearing loss. It is caused by heterozygous mutations in COL11A1 gene coding the 1 chain of collagen XI. Stickler syndrome is the principal differential diagnosis of Marshall syndrome. Clinical and radiological study of Marshall syndrome in a Tunisian family with a linkage study of the COL11A1 gene to this disease. We report the clinical and the radiological findings of a Tunisian family including 8 members affected by Marshall syndrome. The linkage of the COL11A1 gene to this disease was tested using the polymorphic microsatellite markers of DNA. A variability of the clinical expression of Marshall syndrome was reported. Specific Marshall phenotype and an overlapping phenotype between the Marshall and Stickler syndromes were observed among the affected members of this family. The ocular manifestations were also heterogeneous. Marshall syndrome's specific radiological signs were found. The linkage study supports the linkage of the abnormal phenotype to the COL11A1 gene. There is a variability of the clinical expression among the affected members of the study's family. We will continue searching the causative mutation to establish a clear genotype- phenotype correlation


Assuntos
Adulto , Idoso , Humanos , Lactente , Recém-Nascido , Perda Auditiva Neurossensorial , Osteocondrodisplasias , Anormalidades Craniofaciais , Colágeno Tipo XI/deficiência , Artrite , Doenças do Tecido Conjuntivo , Descolamento Retiniano , Radiologia , Genética
19.
Oman Medical Journal. 2015; 30 (2): 138-141
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-168182

RESUMO

Wolcott-Rallison syndrome [WRS] is an autosomal recessive disease, characterized by neonatal or early-onset non-autoimmune insulin-dependent diabetes. WRS, although rare, is recognized to be the most frequent cause of neonatal-onset diabetes. The majority of reported patients are from consanguineous families. Several mutations with variable expression of the syndrome are reported. Here we describe a six-year-old boy with WRS who was evaluated at Sultan Qaboos University Hospital and was found to have a novel homozygous nonsense mutation in the EIF2AK3 gene. His younger sister also had WRS but with milder expression. The mutation exhibited different clinical characteristics in the siblings proving that WRS patients phenotypic variability correlates poorly to genotype. This is the first case report of two Omani children with WRS and a report of a novel mutation


Assuntos
Humanos , Masculino , Feminino , Epífises/anormalidades , Osteocondrodisplasias , Mutação , Irmãos
20.
Pakistan Journal of Medical Sciences. 2015; 31 (6): 1542-1544
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-175144

RESUMO

Grebe syndrome [OMIM-200700] is a very rare type of acromesomelic dysplasia with autosomal recessive inheritance. We studied a Pakistani family with two affected individuals having typical features of Grebe chondrodysplasia. Patients were observed with short and deformed limbs having a proximo-distal gradient of severity. Hind-limbs were more severely affected than fore-limbs. Digits on autopods were very short and nonfunctional. Index subject also had nearsightedness. However, symptoms in the craniofacial and axial skeleton were minimal. Genetic analysis revealed four base pair insertion mutation [c.1114insGAGT] in gene coding cartilage-derived morphogenetic protein-1 [CDMP1]. This mutation was predicted to cause premature stop codon. The clinical presentation in this study broadens the range of phenotypes associated with CDMP1 mutation in Pakistani population


Assuntos
Humanos , Osteocondrodisplasias , Fator 5 de Diferenciação de Crescimento , Mutação , Nanismo
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