ABSTRACT
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
Subject(s)
Humans , Male , Female , Epiphyses/abnormalities , Osteochondrodysplasias , Mutation , SiblingsABSTRACT
For medico-legal purposes evidence of age is very essential in various types of cases such as Identification, Consent, Rape, Attainment of Majority, and Eligibility for Employment, etc. Various work done on the study of age determination by the study of appearance of ossification centers and epiphyseal union of different bones in India as well as abroad indicate a reasonable variation. Majority of them conclude that, the ossification and epiphyseal union of a bone vary in different part of the world. To the best of our knowledge very little work has been done on the study of disappearance of tri-radiate cartilage out of various bony parts useful for age estimation. The present study comprising of 50 subjects ( male=35; female=15),was carried out during the period January 2000 to July 2001 at the Forensic Medicine department and Department of radiology, B.J. Medical College, Ahmedabad.
Subject(s)
Age Determination by Skeleton , Epiphyses/abnormalities , Epiphyses/anatomy & histology , Epiphyses/diagnostic imaging , Forensic Anthropology , Forensic Medicine , Humans , India , Pelvic Bones/abnormalities , Pelvic Bones/anatomy & histology , Pelvic Bones/diagnostic imaging , Population GroupsABSTRACT
Procurou-se identificar se existe alteração histológica na epífise de crescimento ósseo de camundongos submetidos a exercício físico extenuante. Para tanto, foi realizada uma pesquisa experimental com uma amostra de 8 camundongos, que ficaram em condições ambientes em um biotério, alimentados com água e ração comum, ad libitum. A ninhada foi dividida em dois grupos, um grupo controle e um grupo experimental, sendo que, o grupo experimental foi submetido a um exercício físico extenuante, caracterizado pelo aumento do nível de ácido láctico sanguíneo, realizado por 40 minutos/dia, durante 20 dias ininterruptos. Ao final da intervenção, foram confeccionadas lâminas histológicas, com cortes longitudinais do fêmur dos camundongos e analisadas em um microscópio óptico. Os dados obtidos mostraram alteração na estrutura epifisária do grupo experimental com aparente diminuição da zona proliferativa do disco epifisário, articulação mais desenvolvida e aumento das espículas ósseas com diminuição das trabéculas, sugerindo uma maturação precoce da epífise de crescimento. Através da análise dos resultados, conclui-se que o exercício físico extenuante modifica a estrutura da epífise de crescimento ósseo em camundongos.
The aim of this study was to identify histological alterations in bone growth epiphysis of mice submitted to a tiring physical exercise. For so, it was carried out an experimental research with a sample of 8 mice that stayed in environment conditions, fed with water and common feed, ad libitum. The brood was divided in two groups, a control group and an experimental group, being the experimental group submitted to a tiring physical exercise, characterized by the increasing of blood lactate level, carried out by 40 minutes/day, during 20 days uninterrupted. At the end of the intervention, were confectioned histological slides corresponding to the bone growth epiphysis of the femur of the mice and analyzed in an light microscope. Data showed an alteration in the epiphysis structure in the experimental group, with apparent decrease of the proliferation zone of epiphysis disc, an articulation more evolution and an increase of bone speculas with a decrease of trabeculaes, what suggests an early maturation, accelerating the substitution of cartilaginous woven by bone weave. Through the analysis of the results, it was concluded that the tiring physical exercise modifies the structure of bone growth epiphysis in mice.
Subject(s)
Action Potentials , Bone Lengthening , Exercise , Epiphyses/anatomy & histology , Epiphyses/abnormalities , Epiphyses/growth & development , Epiphyses/injuriesSubject(s)
Humans , Male , Diabetes Mellitus , Epiphyses/abnormalities , Hepatitis , Epiphyses/diagnostic imagingABSTRACT
La displasia epifisiaria hemimélica es un desorden del desarrollo en la infancia en el cual hay sobrecrecimiento asimétrico cartilaginoso de una o más epífisis de los huesos del tarso o del carpo. Hasta 1999 encontramos descritos en la literatura mundial 138 casos desde 1926. No se han encontrado evidencias de factores hereditarios o del medio ambiente relacionados. Múltiples estudios han tratado de demostrar su origen en etapas iniciales de la gestación. Afecta generalmente varones entre 2 y 14 años. Sus manifestaciones clínicas son el dolor, la deformidad y la limitación caracterizándose la deformidad por ser asimétrica, de consistencia ósea y que produce desviación en varo o valgo. Los estudios imagenológicos que nos aportan más información son los Rayos X y la Resonancia Magnética. El tratamiento se realiza de acuerdo a la localización anatómica de la lesión y puede ir desde resecciones de la masa hasta osteotomías correctoras. Las recidivas no son frecuentes y no se describen malignizaciones. La histopatología demuestra apariencia similar a los osteocondromas
Subject(s)
Humans , Male , Child, Preschool , Epiphyses/abnormalities , Osteochondrodysplasias , Knee , Osteochondrodysplasias , OsteotomyABSTRACT
É muito difícil se determinar as condiçöes de normalidade, em relaçäo ao desenvolvimento do quadril desde, seu molde embrionário até a sua completa formaçäo. Existe muita controvérsia na literatura quanto ao aparecimento do núcleo de ossificaçäo secundário da epífise femoral nos quadris normais, visto que este pode aparecer desde os primeiros dias de vida (Jacobs, 1966), até um ano e meio após o nascimento (Paterson, 1976). Os autores apresentam o relato de um paciente de um ano e nove meses de idade, que näo apresentava a ossificaçäo da epífise femoral proximal, tratando-se provalvemente de um retardo do aparecimento do núcleo primário. O que foi comprovado após um seguimento clínico, ultra-sonográfico e por ressonância magnética, após um seguimento de um ano e nove meses
Subject(s)
Humans , Male , Infant , Epiphyses/abnormalities , Femur , Femur/embryology , Hip , Hip/abnormalities , Hip/embryology , Hip Dislocation, Congenital/embryology , Hip Dislocation, CongenitalABSTRACT
Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. We report here a case of a 7 year old girl misdiagnosed as rickets, who presented with short stature, lordosis, genu varum and flexion deformities at both the elbows. Skeletal survey revealed epiphyseal and metaphyseal irregularities. A review of literature is also presented.