Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 26
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Sleep ; 40(8)2017 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-28521050

RESUMO

Study Objectives: Sudden unexpected death during sleep (SUDS) is the most common cause of death in patients with familial dysautonomia (FD), an autosomal recessive disease characterized by sensory and autonomic dysfunction. It remains unknown what causes SUDS in these patients and who is at highest risk. We tested the hypothesis that SUDS in FD is linked to sleep-disordered breathing. Methods: We retrospectively identified patients with FD who died suddenly and unexpectedly during sleep and had undergone polysomnography within the 18-month period before death. For each case, we sampled one age-matched surviving subject with FD that had also undergone polysomnography within the 18-month period before study. Data on polysomnography, EKG, ambulatory blood pressure monitoring, arterial blood gases, blood count, and metabolic panel were analyzed. Results: Thirty-two deceased cases and 31 surviving controls were included. Autopsy was available in six cases. Compared with controls, participants with SUDS were more likely to be receiving treatment with fludrocortisone (odds ratio [OR]; 95% confidence interval) (OR 29.7; 4.1-213.4), have untreated obstructive sleep apnea (OR 17.4; 1.5-193), and plasma potassium levels <4 mEq/L (OR 19.5; 2.36-161) but less likely to use noninvasive ventilation at night (OR 0.19; 0.06-0.61). Conclusions: Initiation of noninvasive ventilation when required and discontinuation of fludrocortisone treatment may reduce the high incidence rate of SUDS in patients with FD. Our findings contribute to the understanding of the link between autonomic, cardiovascular, and respiratory risk factors in SUDS.


Assuntos
Morte Súbita , Disautonomia Familiar/fisiopatologia , Sono , Adolescente , Adulto , Sistema Nervoso Autônomo/fisiopatologia , Monitorização Ambulatorial da Pressão Arterial , Sistema Cardiovascular/fisiopatologia , Estudos de Casos e Controles , Criança , Disautonomia Familiar/sangue , Eletrocardiografia , Feminino , Fludrocortisona/farmacologia , Fludrocortisona/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Polissonografia , Potássio/sangue , Fatores de Risco , Apneia Obstrutiva do Sono/fisiopatologia , Adulto Jovem
2.
Nat Genet ; 48(12): 1564-1569, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27749843

RESUMO

Elevated basal serum tryptase levels are present in 4-6% of the general population, but the cause and relevance of such increases are unknown. Previously, we described subjects with dominantly inherited elevated basal serum tryptase levels associated with multisystem complaints including cutaneous flushing and pruritus, dysautonomia, functional gastrointestinal symptoms, chronic pain, and connective tissue abnormalities, including joint hypermobility. Here we report the identification of germline duplications and triplications in the TPSAB1 gene encoding α-tryptase that segregate with inherited increases in basal serum tryptase levels in 35 families presenting with associated multisystem complaints. Individuals harboring alleles encoding three copies of α-tryptase had higher basal serum levels of tryptase and were more symptomatic than those with alleles encoding two copies, suggesting a gene-dose effect. Further, we found in two additional cohorts (172 individuals) that elevated basal serum tryptase levels were exclusively associated with duplication of α-tryptase-encoding sequence in TPSAB1, and affected individuals reported symptom complexes seen in our initial familial cohort. Thus, our findings link duplications in TPSAB1 with irritable bowel syndrome, cutaneous complaints, connective tissue abnormalities, and dysautonomia.


Assuntos
Dor Crônica/genética , Doenças do Tecido Conjuntivo/genética , Variações do Número de Cópias de DNA/genética , Disautonomia Familiar/genética , Gastroenteropatias/genética , Prurido/genética , Dermatopatias/genética , Triptases/sangue , Triptases/genética , Adolescente , Adulto , Idoso , Criança , Dor Crônica/sangue , Dor Crônica/enzimologia , Doenças do Tecido Conjuntivo/sangue , Doenças do Tecido Conjuntivo/enzimologia , Disautonomia Familiar/sangue , Disautonomia Familiar/enzimologia , Feminino , Gastroenteropatias/sangue , Gastroenteropatias/enzimologia , Humanos , Masculino , Pessoa de Meia-Idade , Prurido/sangue , Prurido/enzimologia , Dermatopatias/sangue , Dermatopatias/enzimologia , Adulto Jovem
3.
J Clin Gastroenterol ; 47(2): 136-8, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22739220

RESUMO

GOALS: To analyze the neurochemical profile during the recurrent attacks of nausea and vomiting in patients with Riley-day syndrome. BACKGROUND: One of the most disabling features of patients with Riley-day syndrome are recurrent attacks of severe nausea/retching/vomiting accompanied by hypertension, tachycardia, and skin flushing, usually triggered by emotional or other stresses. STUDY: We monitored blood pressure and heart rate and measured plasma catecholamines during typical dysautonomic crises triggered by emotionally charged situations. For comparison, measurements were repeated at follow-up after the symptoms had resolved and the patients were feeling calm and well. RESULTS: During a typical attack, patients were hypertensive and tachycardic. In all patients, circulating levels of norepinephrine (P < 0.002) and dopamine (P < 0.007) increased significantly. CONCLUSIONS: Activation of dopamine receptors in the chemoreceptor trigger zone may explain the cyclic nausea/retching/vomiting of patients with Riley-day syndrome.


Assuntos
Dopamina/sangue , Disautonomia Familiar/complicações , Sistema Nervoso Simpático/metabolismo , Vômito/etiologia , Adolescente , Adulto , Pressão Sanguínea , Pré-Escolar , Disautonomia Familiar/sangue , Disautonomia Familiar/fisiopatologia , Disautonomia Familiar/psicologia , Disautonomia Familiar/terapia , Emoções , Feminino , Frequência Cardíaca , Humanos , Hipertensão/sangue , Hipertensão/etiologia , Hipertensão/fisiopatologia , Masculino , Norepinefrina/sangue , Recidiva , Sistema Nervoso Simpático/fisiopatologia , Taquicardia/sangue , Taquicardia/etiologia , Taquicardia/fisiopatologia , Fatores de Tempo , Regulação para Cima , Vômito/sangue , Vômito/fisiopatologia , Vômito/psicologia , Vômito/terapia , Adulto Jovem
4.
Neurochem Res ; 33(9): 1889-93, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18357519

RESUMO

This study tested whether familial dysautonomia (FD) involves progressive loss of noradrenergic nerves. Plasma levels of catechols, including dihydroxyphenylglycol (DHPG), norepinephrine (NE), dopamine (DA), and DOPA, were measured in 7 adult patients with FD and 50 healthy control subjects. FD patients were re-tested after a mean follow-up period of 13 years. Compared to controls, FD patients had low plasma levels of DHPG (P < 0.001), high DOPA and DA levels (P = 0.01, P = 0.0002), and high NE:DHPG (P < 0.0001), DA:NE (P = 0.0003), and DOPA:DHPG (P < 0.0001) ratios. At follow-up there were no changes in plasma levels of individual catechols; however, there were further increases in DOPA:DHPG ratios (mean 24 +/- 7%, P = 0.01). In FD, plasma catechol profiles are sufficiently stable, at least over a decade, to be used as a biomarker of disease involvement. An increasing DOPA:DHPG ratio suggests slight but consistent, progressive loss of noradrenergic neurons.


Assuntos
Ácido 3,4-Di-Hidroxifenilacético/sangue , Di-Hidroxifenilalanina/sangue , Dopamina/sangue , Disautonomia Familiar/sangue , Epinefrina/sangue , Norepinefrina/sangue , Adulto , Disautonomia Familiar/patologia , Feminino , Seguimentos , Humanos , Estudos Longitudinais , Masculino , Metoxi-Hidroxifenilglicol/análogos & derivados , Metoxi-Hidroxifenilglicol/sangue
5.
Osteoporos Int ; 13(5): 429-33, 2002 May.
Artigo em Inglês | MEDLINE | ID: mdl-12086355

RESUMO

Familial dysautonomia (FD) patients suffer from multiple fractures and have reduced bone pain, which defers the diagnosis. The pathogenesis of bone fragility in FD is unknown. This study aimed to characterize bone mineral metabolism and density in FD. Seventy-nine FD patients aged 8 months to 48 years (mean age 13.9 +/- 10.4 years, median 12.3) were studied. Clinical data included weight, height, bone age, weekly physical activity and history of fractures. Bone mineral density (BMD) of the lumbar spine (n = 43), femoral neck (n = 26), total hip (n = 22) and whole body (n = 15) were determined by dual-energy X-ray absorptiometry. Serum 25-hydroxyvitamin D3, osteocalcin, bone alkaline phosphatase (B-ALP), parathyroid hormone and urinary N-telopeptide cross-linked type 1 collagen (NTx) were determined in 68 patients and age- and sex-matched controls. Forty-two of 79 patients (53%) sustained 75 fractures. Twenty-four of 43 patients had a spine Z-score < -2.0, and 13 of 26 had a femoral neck Z-score < -2.0. Mean femoral neck BMD Z-score was lower in patients with fractures compared with those without (-2.5 +/- 0.9 vs -1.5 +/- 1.0, p = 0.01). Mean body mass index (BMI) was 16 kg/m2 in prepubertal patients and 18.4 kg/m2 in postpubertal patients. Bone age was significantly lower than chronological age (75.5 vs 99.3 months in prepubertal patients, p < 0.001; 151 vs 174 in postpubertal patients, p < 0.05). NTx and osteocalcin levels were higher in FD patients compared with controls (400 +/- 338 vs 303 +/- 308, BCE/mM creatinine p < 0.02; 90 +/- 59.5 vs 61.8 +/- 36.9 ng/ml, p < 0.001, respectively). B-ALP was lower in FD patients compared with controls (44.66 +/- 21.8 vs 55.36 +/- 36.6 ng/ml, p < 0.04). Mean spine Z-score was significantly lower in physically inactive compared with active patients (-3.00 +/- 1.70 vs -1.77 +/- 1.3, respectively, p = 0.05). We conclude that fractures in FD patients are associated with reduced BMD. FD patients have increased NTx and osteocalcin. Contributing factors include reduced BMI, failure to thrive and reduced physical activity. Preventive therapy and early diagnosis are essential.


Assuntos
Densidade Óssea/fisiologia , Disautonomia Familiar/fisiopatologia , Osteoporose/fisiopatologia , Absorciometria de Fóton/métodos , Adolescente , Adulto , Determinação da Idade pelo Esqueleto , Fosfatase Alcalina/sangue , Análise de Variância , Biomarcadores , Índice de Massa Corporal , Remodelação Óssea/fisiologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Colágeno Tipo I/urina , Disautonomia Familiar/sangue , Disautonomia Familiar/complicações , Feminino , Fraturas Ósseas/etiologia , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Osteocalcina/sangue , Osteoporose/etiologia
6.
Neuropeptides ; 35(3-4): 189-95, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11884210

RESUMO

Familial dysautonomia (FD) patients have diminished sensory C-fibers. Calcitonin gene related peptide (CGRP) is a widely distributed neuropeptide and prominent neurotransmitter in C-fibers. We show that plasma CGRP levels measured by radioimmunoassay is significantly lower in 51 FD patients compared to controls (P<0.001). In 11/51 FD patients with FD crisis and in 19/51 FD patients with pneumonia, the mean CGRP levels rose significantly as compared to their baseline (P<0.003, P<0.001, respectively). The deficiency of CGRP in FD patients is consistent with their depletion of C-fibers, and may explain some of their symptoms, either directly or via modulation of sympathetic activity.


Assuntos
Peptídeo Relacionado com Gene de Calcitonina/sangue , Disautonomia Familiar/sangue , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Pré-Escolar , Disautonomia Familiar/complicações , Disautonomia Familiar/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fibras Nervosas/patologia , Pneumonia/sangue , Pneumonia/complicações , Radioimunoensaio
7.
Isr Med Assoc J ; 2(9): 679-83, 2000 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-11062768

RESUMO

BACKGROUND: Familial dysautonomia is a genetic disease in which there is a defect in the autonomic and sensory nervous systems. These systems have a major role in the reproductive system. OBJECTIVE: To study the inter-relationship of autonomic and sensory dysfunction and gynecological function. METHODS: The gynecological histories of 48 women with familial dysautonomia were analyzed retrospectively. Their mean age was 22.25 years (range 12-47). Thirty-three women (65%) were available for further questioning and investigation of hormonal status. RESULTS: Menarche had occurred in 32 of the 48 (66.7%). Their average age of menarche was significantly delayed as compared to their unaffected mothers (15.5 vs. 13.6 years respectively, P = 0.002). The most prominent finding was the very high prevalence, 81.2%, of premenstrual symptoms. Seven of 26 had premenstrual syndrome symptoms of dysautonomic crisis. Blood sex hormone levels were normal in 27 of the 33 patients studied. None reached natural menopause. One patient had adenomyosis, and another, dysgerminoma. Three patients became pregnant and delivered healthy infants. CONCLUSION: Menarche is delayed in women with FD, and the physiological monthly hormonal fluctuations may disturb autonomic homeostasis sufficiently to precipitate dysautonomic crisis.


Assuntos
Disautonomia Familiar/complicações , Distúrbios Menstruais/complicações , Adolescente , Adulto , Criança , Disautonomia Familiar/sangue , Feminino , Hormônios/sangue , Humanos , Menarca , Pessoa de Meia-Idade , Gravidez , Síndrome Pré-Menstrual/complicações , História Reprodutiva , Estudos Retrospectivos
9.
Clin Auton Res ; 6(4): 205-9, 1996 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-8902316

RESUMO

This report extends previous investigations of endogenous catecholamine levels in patients with orthostatic hypotension due to familial dysautonomia (FD), to define better the neurochemical phenotype and elucidate possible pathophysiological mechanisms. Ten FD patients (age 26.1 +/- 2.6 (SEM) years) and eight control subjects (age 29.5 +/- 3.7 years) were studied. Heart rate, blood pressure and venous blood samples were obtained while supine and after 5 min in the upright position. Plasma levels of dihydroxyphenylalanine (DOPA), noradrenaline (NA), adrenaline (A), dopamine (DA), dihydroxyphenylglycol (DHPG) and dihydroxyphenylacetic acid (DOPAC) were measured. When supine, the FD group had greater NA and DOPA levels, and lower DHPG levels. Plasma NA did not increase with erect posture in FD patients. Individual FD mean blood pressures were correlated positively with plasma NA levels when supine and with plasma DA and DOPAC when upright. In FD, DOPA:DHPG ratios were above the range found in normal subjects or that reported in patients with acquired forms of dysautonomia regardless of posture, whereas DOPAC:DHPG ratios remained normal. Thus FD patients have a characteristic neurochemical pattern which probably reflects either decreased vesicular storage of catecholamines or limited oxidative deamination despite normal or increased tyrosine hydroxylation.


Assuntos
Catecolaminas/sangue , Disautonomia Familiar/sangue , Adolescente , Adulto , Feminino , Humanos , Hipotensão Ortostática/sangue , Masculino , Pessoa de Meia-Idade , Decúbito Dorsal/fisiologia
10.
Clin Auton Res ; 4(6): 311-8, 1994 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-7711467

RESUMO

Circulating atrial natriuretic peptide (ANP) was assayed before and after postural change and exercise in 54 patients with familial dysautonomia (FD) and 20 controls. ANP levels were compared with blood pressure, heart rate, plasma catecholamines and parameters of renal function. Compared with controls supine FD subjects had elevated blood pressures, heart rates and ANP levels (39 +/- 4 pg/ml vs. 23 +/- 3 pg/ml, p < 0.01). With the erect posture and exercise in FD subjects, blood pressure fell below control values, with ANP lowered. In FD subjects, blood pressure was correlated with ANP levels when supine and when erect and with heart rate post exercise. In controls, ANP levels did not correlate with other parameters. In FD patients on metoclopramide, supine and erect blood pressure and ANP levels were higher. FD subjects treated with fludrocortisone, had elevated supine and erect noradrenaline (p < 0.05 and p = 0.06); and those on diazepam had lower erect and post exercise noradrenaline (p < 0.05), but ANP levels were similar. In conclusion, sympathetic denervation may increase FD patients' responsiveness to other regulators of cardiovascular integrity, such as ANP. In addition, circulating ANP and catecholamines in FD subjects appear to be influenced by commonly used medications, such as metoclopramide.


Assuntos
Fator Natriurético Atrial/sangue , Fator Natriurético Atrial/efeitos dos fármacos , Disautonomia Familiar/tratamento farmacológico , Disautonomia Familiar/fisiopatologia , Postura/fisiologia , Adolescente , Adulto , Fator Natriurético Atrial/metabolismo , Pressão Sanguínea , Catecolaminas/sangue , Criança , Diazepam/uso terapêutico , Disautonomia Familiar/sangue , Feminino , Fludrocortisona/uso terapêutico , Frequência Cardíaca/efeitos dos fármacos , Humanos , Hipotensão Ortostática/tratamento farmacológico , Masculino , Metoclopramida/uso terapêutico , Pessoa de Meia-Idade
11.
Acta Neurol (Napoli) ; 13(6): 574-6, 1991 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-1805556

RESUMO

We used a chronobiological inferential statistical method to investigate circadian rhythms of hypophyseal hormones, cortisol, melatonin and catecholamines in two females of the same family affected by fatal familial insomnia. Case 1 (confirmed at autopsy) presented an absent or progressive loss of circadian rhythms of all hormones. In case 2 there was a loss of GH circadian rhythm and a less significant rhythm for melatonin, catecholamines and gonadotropins. These results confirm the role of the thalamus in regulating hormonal circadian rhythm.


Assuntos
Aberrações Cromossômicas/genética , Ritmo Circadiano/genética , Disautonomia Familiar/genética , Genes Dominantes/genética , Hormônios/sangue , Distúrbios do Início e da Manutenção do Sono/genética , Adulto , Transtornos Cromossômicos , Ritmo Circadiano/fisiologia , Disautonomia Familiar/sangue , Feminino , Humanos , Pessoa de Meia-Idade , Distúrbios do Início e da Manutenção do Sono/sangue , Tálamo/fisiopatologia
13.
Pediatrics ; 65(1): 107-10, 1980 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-7355003

RESUMO

A male infant who had vomiting and coma in the absence of ketoacidosis was initially thought to have dysautonomia because of abnormal responses to methacholine and histamine, as well as abnormal urinary catecholamine excretion. Following an episode of hyperammonemia, a liver biopsy was performed which revealed a partial deficiency of carbamyl phosphate synthetase activity. The patient was treated with a protein-restricted diet supplemented with a mixture of ketoacid analogues of the essential amino acids, which precipitated ketosis and acidosis. A primary deficiency of propionyl coenzyme A (CoA) carboxylase was subsequently demonstrated. Because disorders of propionate metabolism may not initially present with ketoacidosis, we recommend examination of both plasma and urine for metabolites of this pathway, as well as direct measurement of propionyl CoA carboxylase activity in peripheral blood leukocytes, before performing a liver biopsy to evaluate urea cycle enzyme activities, and particularly before adding keto acid/amino acid mixtures to a protein-restricted diet.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/sangue , Amônia/sangue , Disautonomia Familiar/sangue , Ligases/deficiência , Acil Coenzima A , Erros Inatos do Metabolismo dos Aminoácidos/dietoterapia , Aminoácidos/uso terapêutico , Carbamoil-Fosfato Sintase (Amônia)/sangue , Carbamoil-Fosfato Sintase (Amônia)/deficiência , Diagnóstico Diferencial , Humanos , Lactente , Cetoácidos/uso terapêutico , Leucócitos/enzimologia , Ligases/sangue , Fígado/enzimologia , Masculino , Propionatos/sangue
14.
Artigo em Russo | MEDLINE | ID: mdl-452787

RESUMO

On the basis of the data obtained during a determination of the cholinergic blood activity in different physiological and pathological conditions of the organism it was possible to evaluate the state (tone and reactivity) of the parasympathetic part of the vegetative nervous system. The conducted studies demonstrate that the cholinergic blood activity depends upon the quantitative relationships between the separate components of the "acetylcholine system" which consists of the free acetylcholine content, bound erythrocytes, the activity of the acetylcholine esterase and the capability of blood in vitro to fixate the added acetylcholine. The pathogenetic therapy in the different forms of disturbed cholinergic blood activity (conditions of parasympathicotonia and parasympathicoatonia) should be directed to a restitution of normal relationships within the acetylcholine complex.


Assuntos
Acetilcolina/sangue , Acetilcolinesterase/sangue , Sistema Nervoso Parassimpático/fisiologia , Encefalopatias/sangue , Disautonomia Familiar/sangue , Eritrócitos/metabolismo , Feminino , Radicais Livres , Hemoglobinúria Paroxística/sangue , Humanos , Técnicas In Vitro , Trabalho de Parto , Sistema Límbico/fisiopatologia , Gravidez , Ligação Proteica , Formação Reticular/fisiopatologia
15.
Ann Intern Med ; 88(5): 671-80, 1978 May.
Artigo em Inglês | MEDLINE | ID: mdl-646261

RESUMO

Plasma norepinephrine derives from sympathetic nerves, but the proportion reaching the circulation before being metabolized varies with the type of nerve ending-effector junctions in the tissue. Plasma levels of norepinephrine also will fluctuate because of rapid metabolism rates and environmental, emotional, and endogenous stimuli provoking a sympathetic response. The responses of plasma catecholamines in spontaneously hypertensive rats and in normotensive rats of the same strain were compared after exposure to a variety of stressors. Drugs that inhibit monoamine oxidase, catechol-O-methyl transferase, or neuronal uptake were administered to show the effects of metabolic enzymes and neuronal uptake on the amounts of catecholamines reaching the circulation. Sympathetic nervous activity and the ability of the sympathetic nervous system to respond to a uniform stimulus are studied in hypertensive and normotensive subjects. A survey of the plasma levels of norepinephrine in a variety of neurologic disorders is given.


Assuntos
Norepinefrina/sangue , Adulto , Animais , Sistema Nervoso Autônomo , Gatos , Criança , Cães , Disautonomia Familiar/sangue , Epinefrina/sangue , Humanos , Hipertensão/sangue , Hipertensão/fisiopatologia , Hipotensão Ortostática/sangue , Hipotensão Ortostática/fisiopatologia , Doenças do Sistema Nervoso/sangue , Doenças do Sistema Nervoso/fisiopatologia , Ratos , Estresse Fisiológico/sangue , Estresse Psicológico , Sistema Nervoso Simpático/fisiopatologia , Síndrome
16.
Isr J Med Sci ; 13(3): 278-82, 1977 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-856765

RESUMO

In some patients with familial dysautonimia, plasma renin activity shows a paradoxical response to postural stimuli, i.e., levels of plasma renin activity are high when the patient is in the supine position and fall significantly during subsequent ambulation. Furthermore, there is no coordinated release of plasma renin activity and aldosterone. The aim of the present study was to determine whether these findings are accompanied by a disturbance of salt conservation. Six patients were studied in a summer camp while on normal and low-salt diets. Plasma and urinary aldosterone levels rose sharply and appropriately when four of the patients were placed on a low-sodium diet. In these subjects, urinary sodium output fell sharply although three of them failed to attain sodium equilibrium by the third day of the low-sodium regimen. Elevation of early morning plasma renin activity appeared to correlate with an inversion in the normal day-night rhythm in urinary volume.


Assuntos
Disautonomia Familiar/metabolismo , Cloreto de Sódio/metabolismo , Adolescente , Adulto , Aldosterona/sangue , Aldosterona/urina , Criança , Dieta , Disautonomia Familiar/sangue , Disautonomia Familiar/urina , Humanos , Postura , Potássio/sangue , Potássio/urina , Renina/sangue , Sódio/sangue , Sódio/urina
20.
N Engl J Med ; 295(12): 629-34, 1976 Sep 16.
Artigo em Inglês | MEDLINE | ID: mdl-987530

RESUMO

To determine whether dysautonomia arises from alteration in nerve-growth factor (NGF), we measured serum levels of NGF subunits in normal and dysautonomic subjects using a biologic assay based on neurite outgrowth from chick ganglions, a binding assay based on displacement of radiolabeled betaNGF from rabbit-ganglion microsomes, and radioimmunoassays of chi, gamma and betaNGF subunits via antiserum to mouse NGF polypeptides. A threefold increase (P less than 0.001) in serum antigen levels of the biologically active subunit (betaNGF) was found for dysautonomic as compared with normal subjects. By all other assays, the groups were alike. The marked discrepancy in betaNGF levels between antigenic and functional (biologic and binding) measurements suggests a qualitative abnormaltiy of betaNGF in dysautonomia. Alternatively, elevation of betaNGF antigen can be regarded as secondary to disease. This alternative seems less likely since we must then suppose that the normalcy of functional assays in spurious.


Assuntos
Disautonomia Familiar/sangue , Fatores de Crescimento Neural/sangue , Adolescente , Animais , Antígenos , Ligação Competitiva , Bioensaio , Criança , Reações Cruzadas , Disautonomia Familiar/imunologia , Feminino , Humanos , Masculino , Camundongos/imunologia , Fatores de Crescimento Neural/imunologia , Fragmentos de Peptídeos , Peptídeos/sangue , Peptídeos/imunologia , Coelhos/imunologia , Radioimunoensaio
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA