RESUMO
The ability of the colon to generate an immune response to pathogens, such as the model pathogen Trichuris muris, is a fundamental and critical defense mechanism. Resistance to T. muris infection is associated with the rapid recruitment of dendritic cells (DCs) to the colonic epithelium via epithelial chemokine production. However, the epithelial-pathogen interactions that drive chemokine production are not known. We addressed the role of the cytosolic pattern recognition receptor Nod2. In response to infection, there was a rapid influx of CD103(+)CD11c(+) DCs into the colonic epithelium in wild-type (WT) mice, whereas this was absent in Nod2(-/-) animals. In vitro chemotaxis assays and in vivo experiments using bone marrow chimeras of WT mice reconstituted with Nod2(-/-) bone marrow and infected with T. muris demonstrated that the migratory function of Nod2(-/-) DCs was normal. Investigation of colonic epithelial cell (CEC) innate responses revealed a significant reduction in epithelial production of the chemokines CCL2 and CCL5 but not CCL20 by Nod2-deficient CECs. Collectively, these data demonstrate the importance of Nod2 in CEC responses to infection and the requirement for functional Nod2 in initiating host epithelial chemokine-mediated responses and subsequent DC recruitment and T-cell responses following infection.
Assuntos
Antígenos CD/metabolismo , Colo/imunologia , Colo/parasitologia , Células Dendríticas/imunologia , Cadeias alfa de Integrinas/metabolismo , Infecções por Nematoides/imunologia , Proteína Adaptadora de Sinalização NOD2/metabolismo , Trichuris/imunologia , Animais , Movimento Celular/imunologia , Proliferação de Células , Células Dendríticas/citologia , Ensaio de Imunoadsorção Enzimática , Citometria de Fluxo , Imunofluorescência , Técnicas de Inativação de Genes , Masculino , CamundongosRESUMO
Medicogenetic examination was conducted in families of 46 patients (21 women and 25 men aged 16-74 years) with Wolff-Parkinson-White (WPW) syndrome. A total of 256 relatives were investigated (136 women and 120 men aged 2 to 85 years). As a result, the diagnosis of preexcitation syndrome and phenomenon was made initially in 75(29.3%) of the relatives: WPW syndrome, Clerc-Levy-Cristesco (CLC) syndrome, CLC phenomenon was made in 6(2.3%), 27(10.6%) and 42(16.4%) relatives, respectively. Additional conduction pathways in the families with WPW syndrome are inherited by the autosome-dominant type with penetrability 0.94(94%) and clinical polymorphism. Prospective observation of the families revealed evolution of the clinical symptoms (development of arrhythmia) in the relative with CLC or WPW phenomenon in unfavorable exo- and endogenic factors. WPW syndrome evolution in the patients ran with aggravation of arrhythmia though 12 patients showed improvement.
Assuntos
Síndrome de Wolff-Parkinson-White/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Estudos Prospectivos , Índice de Gravidade de Doença , Síndrome de Wolff-Parkinson-White/diagnósticoRESUMO
Reported are results of multiyear observation of the structure of individual and population health in Vladikavkaz, and the authors' concept of health recovery and protection through application of modern high technologies of active chronoadaptation to extreme living conditions. The proposed methods of active chronoadapation, i.e. phytocorrection and phytopro-phylaxis, reflexocorrection, bioradiological correction, bioresonance chronolasercorrection can be also of interest for aerospace medicine.
Assuntos
Ritmo Circadiano , Nível de Saúde , Saúde Pública/normas , Estações do Ano , Adaptação Fisiológica , Medicina Aeroespacial/métodos , Humanos , Doenças Profissionais/prevenção & controle , Estudos RetrospectivosRESUMO
Tel Hashomer camptodactyly syndrome in 2 siblings was described for the first time in Russian literature. Together with camptodactyly flexion folds between phalanges were absent in patients and characteristic face alterations were presented such as asymmetry, hypertelorism, antimongolian ophthalmic eyes cut, high ridge of the nose. There were also observed diffuse skeletal musculature hypoplasia together with humeroradial muscle aplasia as well as two-sides talipes. Inheritance type of syndrome in this family was estimated as autosomal-recessive.
Assuntos
Anormalidades Múltiplas/diagnóstico , Deformidades Congênitas do Pé/diagnóstico , Deformidades Congênitas da Mão/diagnóstico , Anormalidades Múltiplas/genética , Adolescente , Criança , Face/anormalidades , Feminino , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/genética , Humanos , Masculino , Músculo Esquelético/anormalidades , SíndromeRESUMO
Analysis of the clinical data and laboratory studies brought the authors to a conclusion on the possibility of using dot solid-phase ELISA on nitrocellulose for rapid (1 h), simple, and specific detection of canine distemper virus. The method is sufficiently specific, helps specify the clinical diagnosis, and may be used in future for the creation of a commercial test system.
Assuntos
Cinomose/diagnóstico , Animais , Cães , Ensaio de Imunoadsorção Enzimática/veterinária , Morbillivirus/isolamento & purificaçãoAssuntos
Sistema de Condução Cardíaco/fisiopatologia , Síndrome de Lown-Ganong-Levine/diagnóstico , Síndrome de Wolff-Parkinson-White/diagnóstico , Adolescente , Adulto , Diagnóstico Diferencial , Feminino , Testes de Função Cardíaca , Ventrículos do Coração/inervação , Humanos , Síndrome de Lown-Ganong-Levine/fisiopatologia , Masculino , Pessoa de Meia-Idade , Síndrome de Wolff-Parkinson-White/fisiopatologiaAssuntos
Complexos Cardíacos Prematuros/genética , Prolapso da Valva Mitral/genética , Taquicardia Supraventricular/genética , Adulto , Idoso , Complexos Cardíacos Prematuros/complicações , Complexos Cardíacos Prematuros/diagnóstico , Feminino , Humanos , Masculino , Prolapso da Valva Mitral/complicações , Prolapso da Valva Mitral/diagnóstico , Linhagem , Síndrome , Taquicardia Supraventricular/complicações , Taquicardia Supraventricular/diagnósticoRESUMO
Medical genetic consultation was provided for 35 patients with Wolff-Parkinson-White syndrome (WPWS). The investigators ascertained the family history, inquired and examined patients, referred the patients' relatives for ECG and echocardiographic investigations. A newly diagnosed WPWS was reported in 3, Clerc-Levy-Cristesco (CLC) syndrome in 17, CLC phenomenon in 45 out of 132 grade I and II relatives of the proband. The study confirmed autosomal dominant inheritance of WPWS. More frequent occurrence of the syndrome was noted in the proband's relatives in case the disease occurred in both parents, less frequent in families with the history of one WPWS-affected parent. It is suggested that the disease should be considered associated with hereditary predisposition.
Assuntos
Síndrome de Wolff-Parkinson-White/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Ecocardiografia , Eletrocardiografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Síndrome de Wolff-Parkinson-White/diagnósticoRESUMO
The authors describe a rare and little studied form (distal) of spinal amyotrophy. 12 patients were placed under observation. A group of patients with symmetric distal pareses of the hands and legs has been distinguished. Patients with long existent distal monoparesis of the hand or leg are described. The role of EMG in the differential diagnosis is emphasized.
Assuntos
Pé/inervação , Mãos/inervação , Hemiplegia/diagnóstico , Músculos/inervação , Atrofia Muscular Espinal/diagnóstico , Adulto , Diagnóstico Diferencial , Eletromiografia , Feminino , Hemiplegia/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Atrofia Muscular Espinal/complicaçõesAssuntos
Síndrome de Lown-Ganong-Levine/genética , Síndromes de Pré-Excitação/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Eletrocardiografia , Feminino , Genes Dominantes , Aconselhamento Genético , Humanos , Síndrome de Lown-Ganong-Levine/diagnóstico , Síndrome de Lown-Ganong-Levine/etiologia , Masculino , Pessoa de Meia-Idade , LinhagemRESUMO
Neurologic manifestations were examined in 25 patients with the Ehlers-Danlos syndrome. Injuries to vessels of the brain and spine, arteriovenous malformation, muscular and vertebrogenic lesions, headaches, and vegetative disorders were diagnosed. The clinical and laboratory data are provided whatever the presence or lack of neurologic symptomatology. The problem of the pathogenesis and treatment of neurologic manifestations associated with the Ehlers-Danlos syndrome are discussed.
Assuntos
Síndrome de Ehlers-Danlos/complicações , Doenças do Sistema Nervoso/etiologia , Adolescente , Adulto , Transtornos Cerebrovasculares/diagnóstico , Transtornos Cerebrovasculares/etiologia , Transtornos Cerebrovasculares/terapia , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/terapia , Doenças Neuromusculares/diagnóstico , Doenças Neuromusculares/etiologia , Doenças Neuromusculares/terapiaRESUMO
The paper is concerned with the description of a family where father suffered from right bundle-branch block, his daughter--from Wolff-Parkinson-White syndrome (type B) with attacks of supraventricular paroxysmal tachycardia, one granddaughter--from Clerc-Lévy-Cristesco syndrome with attacks of sinus tachycardia, the two other granddaughters had a short P-R interval. Medicogenetic investigation revealed not only the inheritance of myocardial conduction changes of autosomal dominant type but also of syndromes characterizing primary dysplasia of connective tissue in 3 generations.
Assuntos
Síndromes de Pré-Excitação/genética , Adolescente , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Síndromes de Pré-Excitação/diagnóstico , Síndromes de Pré-Excitação/patologiaRESUMO
Wolff-Parkinson-White syndrome (WPWS) was combined in a majority of patients with various syndromes of primary dysplasia of connective tissue determining phenotypic characteristics of patients. They are also of considerable diagnostic importance. During examination of 200 WPWS patients, asthenic constitution, dolichocephalism and arachnodactyly were revealed in most of them. The most frequent stigmata of dysembryogenesis were the high palate (76%) the 3rd type of the ear lobe (36.6%), and epicanthus (20.5%). The funnel chest and thoracic kyphosis in the sagittal plane were noted in 30% of WPWS patients. The syndrome of articular hypermobility was diagnosed in 51.6% of the patients with WPWS, of them 37% had extraarticular manifestations in the form of varicosis of the crural veins.
Assuntos
Síndromes de Pré-Excitação/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças do Tecido Conjuntivo/diagnóstico , Doenças do Tecido Conjuntivo/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Síndromes de Pré-Excitação/diagnóstico , Recidiva , Síndrome de Wolff-Parkinson-White/diagnóstico , Síndrome de Wolff-Parkinson-White/genéticaRESUMO
Examination of 37 patients with Marfan's syndrome has revealed acute disorders of the cerebral circulation, aneurysms of the spinal vessels, varicose spinal veins, myopathy-like syndrome, atlantal semiluxation, spondylolisthesis, epilepsy and cephalgia. The data of additional examinations conducted in patients with Marfan's syndrome with and without neurological symptomatology are presented. The questions concerning the prevention, pathogenesis and therapy of neurological disturbances associated with Marfan's syndrome are considered.
Assuntos
Síndrome de Marfan/diagnóstico , Doenças do Sistema Nervoso/diagnóstico , Adolescente , Adulto , Criança , Feminino , Humanos , MasculinoRESUMO
A 13-year-old girl with Satoyoshi's syndrome is described. The disease manifested itself with generalized cramps, myoclonus, alopecia, diarrhea, growth retardation, muscular hypertrophies, bone malformations, and uterine and gonadal aplasia in the presence of normally developed breasts. Acetazolamide therapy led to a considerable alleviation of cramps and myoclonuses. The child's father displayed gynecomasty, muscular hypertrophy, patent palate, early alopecia and intensified lumbar lordosis; as a child she had had marked cramps in the leg muscles. The examination of the karyotype in the proband and father revealed heteromorphism with regard to the central region of the 22nd chromosome in both cases. Differential staining of the chromosomes failed to show the deletion of any fragment of this chromosome which made it possible to consider this karyotype peculiarity as a variant of the norm.