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1.
International Journal of Oral Science ; (4): 35-35, 2020.
Artigo em Inglês | WPRIM | ID: wpr-880851

RESUMO

Coffin-Lowry-Syndrome (CLS) is a X-linked mental retardation characterized by skeletal dysplasia and premature tooth loss. We and others have previously demonstrated that the ribosomal S6 kinase RSK2, mutated in CLS, is essential for bone and cementum formation; however, it remains to be established whether RSK2 plays also a role in mechanically induced bone remodeling during orthodontic tooth movement (OTM). We, therefore, performed OTM in wild-type (WT) mice and Rsk2-deficient mice using Nitinol tension springs that were fixed between the upper left molars and the incisors. The untreated contralateral molars served as internal controls. After 12 days of OTM, the jaws were removed and examined by micro-computed tomography (µCT), decalcified histology, and immunohistochemistry. Our analysis of the untreated teeth confirmed that the periodontal phenotype of Rsk2-deficient mice is characterized by alveolar bone loss and hypoplasia of root cementum. Quantification of OTM using µCT revealed that OTM was more than two-fold faster in Rsk2-deficient mice as compared to WT. We also observed that OTM caused alveolar bone loss and root resorptions in WT and Rsk2-deficient mice. However, quantification of these orthodontic side effects revealed no differences between WT and Rsk2-deficient mice. Taken together, Rsk2 loss-of-function accelerates OTM in mice without causing more side effects.


Assuntos
Animais , Camundongos , Síndrome de Coffin-Lowry , Cemento Dentário , Reabsorção da Raiz , Técnicas de Movimentação Dentária , Microtomografia por Raio-X
2.
Chinese Journal of Medical Genetics ; (6): 798-800, 2019.
Artigo em Chinês | WPRIM | ID: wpr-776803

RESUMO

OBJECTIVE@#To identify potential mutations of the CLS gene in a Chinese pedigree affected with Coffin-Lowry syndrome.@*METHODS@#Whole exome sequencing was applied to detect potential mutation in the proband, and the result was verified by Sanger sequencing.@*RESULTS@#The proband was found to carry a c.966_967delAA (p.Arg323Thr fs*11) deletional mutation in the RPS6KA3 gene. The same mutation was also found in his mother.@*CONCLUSION@#The c.966_967delAA (p.Arg323Thr fs*11) deletional mutation of the RPS6KA3 gene probably underlies the disorder in this pedigree.


Assuntos
Humanos , Povo Asiático , China , Síndrome de Coffin-Lowry , Genética , Mutação , Linhagem , Proteínas Quinases S6 Ribossômicas 90-kDa , Genética , Deleção de Sequência
3.
Rev. bras. ter. intensiva ; 28(4): 483-487, oct.-dic. 2016. graf
Artigo em Português | LILACS | ID: biblio-844266

RESUMO

RESUMO Descrevemos paciente de 27 anos com síndrome de Coffin-Lowry, com quadro de pneumonia comunitária grave, choque séptico e insuficiência respiratória. Sumarizamos a assistência ventilatória mecânica, bem como o período de internação em unidade de terapia intensiva.


ABSTRACT We describe a 27-year-old patient with Coffin-Lowry syndrome with severe community pneumonia, septic shock and respiratory failure. We summarize both the mechanical ventilatory assistance and the hospitalization period in the intensive care unit.


Assuntos
Humanos , Masculino , Adulto , Respiração Artificial/métodos , Insuficiência Respiratória/terapia , Síndrome de Coffin-Lowry/terapia , Pneumonia/terapia , Choque Séptico/terapia , Infecções Comunitárias Adquiridas/terapia , Síndrome de Coffin-Lowry/fisiopatologia , Unidades de Terapia Intensiva
4.
Univ. med ; 51(4): 427-433, out.-dez. 2010. ilus
Artigo em Espanhol | LILACS | ID: lil-601570

RESUMO

El síndrome de Coffin-Lowry es una enfermedad genética ligada al cromosoma X, caracterizada por múltiples deformidades esqueléticas, talla baja, retraso en el desarrollo neurológico, además de alteraciones renales, auditivas y otras. Si no se detecta y trata en forma temprana, lleva al paciente a pérdida de la audición neurosensorial y deformidad progresiva de la columna vertebral. Se presenta el caso de un niño de 10 años con los hallazgos clínicos característicos del síndrome de Coffin-Lowry: hipotonía, retardo del crecimiento y del desarrollo psicomotor, y deformidades esqueléticas progresivas. Se resalta la importancia de un diagnóstico precoz para mejorar la calidad de vida del paciente, controlando la pérdida de la audición neurosensorial y la deformidad progresiva de la columna vertebral (escoliosis o cifosis).


The Coffin-Lowry syndrome is an X-linked genetic disease, characterized by multiple skeletal deformities, short stature, and developmental delay, neurological disorder, cardiac disorders, renal and other disturbances. If not detected and treated early the syndrome may cause neural sensory hearing loss and progressive spine deformation. We report the case of a Coffin-Lowry syndrome in a 10 year old boy with hypotonic clinical characteristics, short stature, neurological development delay and progressive spine deformation. We stress the importance of early diagnosis to improve the quality of life of the patient by controlling neural sensory hearing deficit and progressive spine deformation (scoliosis and/or Kyphosis).


Assuntos
Cromossomo X , Hipotonia Muscular , Síndrome de Coffin-Lowry
5.
Journal of Genetic Medicine ; : 196-199, 2007.
Artigo em Coreano | WPRIM | ID: wpr-169517

RESUMO

Coffin-Lowry syndrome (CLS) is a rare X-linked hereditary disorder characterized by moderate to severe mental retardation, facial dysmorphism, tapering fingers, and skeletal deformity. A 12-month-old boy was referred to our pediatric clinic for his developmental delay and seizure with fever. The boy exhibited a coarse facial appearance characterized by prominent, high-arched eyebrow, broad nose, downward palpebral fissure, high arched palate, hypodontia. The boy also showed finger tapering and puffy hand. Hypotonia, hyperextensible fingers and hypermobility of the joint were seen. Based on these findings, he was diagnosed as having Coffin-Lowry syndrome. We report a case of Coffin-Lowry syndrome with reference.


Assuntos
Humanos , Lactente , Masculino , Anodontia , Síndrome de Coffin-Lowry , Anormalidades Congênitas , Sobrancelhas , Febre , Dedos , Mãos , Deficiência Intelectual , Articulações , Hipotonia Muscular , Nariz , Palato , Convulsões
6.
Indian J Pediatr ; 2005 Oct; 72(10): 855-7
Artigo em Inglês | IMSEAR | ID: sea-79775

RESUMO

Research in the field of neurosciences and genetics has given us great insight into the understanding of learning and behavior and changes in the brain in response to experience. It is seen that brain is dynamically changing throughout life and is capable of learning at any time. Critical periods of neuroplasticity for various streams of development are also better understood. Technological advances in non invasive imaging techniques and advances in molecular genetics have helped us understand the basis of many developmental disorders which may help in planning effective intervention strategies.


Assuntos
Adulto , Fatores Etários , Mapeamento Encefálico , Criança , Síndrome de Coffin-Lowry/diagnóstico , Período Crítico Psicológico , Deficiências do Desenvolvimento/diagnóstico , Eletroencefalografia , Feminino , Síndrome do Cromossomo X Frágil/diagnóstico , Humanos , Recém-Nascido , Potenciação de Longa Duração/fisiologia , Imageamento por Ressonância Magnética , Masculino , Biologia Molecular , Plasticidade Neuronal/fisiologia , Neurônios/fisiologia , Neurofisiologia , Neurociências , Gravidez , Pesquisa , Sinapses/fisiologia , Fatores de Tempo
7.
Indian J Pediatr ; 2003 Dec; 70(12): 1001-2
Artigo em Inglês | IMSEAR | ID: sea-80607

RESUMO

The Coffin-Lowry syndrome is an established syndrome of severe mental and growth retardation, characteristic dysmorphic features and skeletal anomalies. The authors report a one and half year old boy with classical features of this syndrome. Early recognition of this condition is important for genetic counseling and prevention of progressive skeletal deformities.


Assuntos
Síndrome de Coffin-Lowry , Aconselhamento Genético , Humanos , Lactente , Masculino
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