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1.
J Clin Endocrinol Metab ; 106(9): e3381-e3389, 2021 08 18.
Artigo em Inglês | MEDLINE | ID: mdl-34061946

RESUMO

CONTEXT: Autoimmune diseases affect ~8% of the population. Type 1 diabetes mellitus (T1DM) is linked to other autoimmune diseases (AIDs), such as autoimmune thyroid disease or Addison's disease (AD), that may impact diabetes therapy and outcome. OBJECTIVE: To analyze demographic and clinical characteristics of other AIDs in T1DM from a large standardized registry, the Prospective Diabetes Follow-up Registry (DPV). METHODS: We searched the registry for T1DM with the additional diagnosis of Hashimoto's thyroiditis (HT), Graves' disease (GD), and/or AD. T1DM with other AIDs (n = 6166, 5.4%) were compared with isolated T1DM (n = 107 457). For group comparisons, we used multivariable regression models with age, sex, diabetes duration, migration background, and type of insulin regimen as basic adjustments (microvascular endpoints: additionally adjusted for glycated hemoglobin). RESULTS: Patients with additional AIDs were more often female (54.7 vs 32.0%, P < .001) and had a longer diabetes duration (7.9 [4.2-12.5] vs 6.7 [2.7-12.9] years, P < .001). After adjustment, daily insulin dosage was higher in AD and HT than in isolated T1DM (0.858 ±â€…0.032 and 0.813 ±â€…0.005 vs 0.793 ±â€…0.001 IU/kg per day). Retinopathy was less common in HT (1.5%), whereas it was more frequent in GD (3.1%) than in isolated T1DM (1.8%). In both GD and HT, microalbuminuria occurred less often (10.6% and 14.3% vs 15.5%) and neuropathy (2.1% and 1.8% vs 0.8%) was more common than in isolated T1DM. All P < .05. CONCLUSION: T1DM with additional AIDs show heterogeneous differences compared with isolated T1DM. T1DM plus AD or HT requires more insulin. Further, the rate of neuropathy is higher in HT or GD, whereas the rate of microalbuminuria is lower.


Assuntos
Doenças Autoimunes/complicações , Diabetes Mellitus Tipo 1/complicações , Doença de Addison/complicações , Doença de Addison/epidemiologia , Adolescente , Adulto , Albuminúria , Doenças Autoimunes/epidemiologia , Criança , Diabetes Mellitus Tipo 1/epidemiologia , Neuropatias Diabéticas/epidemiologia , Retinopatia Diabética/epidemiologia , Feminino , Doença de Graves/complicações , Doença de Graves/epidemiologia , Doença de Hashimoto/complicações , Doença de Hashimoto/epidemiologia , Humanos , Hipoglicemiantes/administração & dosagem , Hipoglicemiantes/uso terapêutico , Insulina/administração & dosagem , Insulina/uso terapêutico , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Sistema de Registros , Análise de Regressão , Fatores Sexuais , Adulto Jovem
2.
J Neurol ; 268(3): 1059-1069, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33025119

RESUMO

BACKGROUND: Clinicians have questioned whether any disorder involving seizures and neural antibodies should be called "(auto)immune epilepsy." The concept of "acute symptomatic seizures" may be more applicable in cases with antibodies against neural cell surface antigens. We aimed at determining the probability of achieving seizure-freedom, the use of anti-seizure medication (ASM), and immunotherapy in patients with either constellation. As a potential pathophysiological correlate, we analyzed antibody titer courses. METHODS: Retrospective cohort study of 39 patients with seizures and neural antibodies, follow-up ≥ 3 years. RESULTS: Patients had surface antibodies against the N-methyl-D-aspartate receptor (NMDAR, n = 6), leucine-rich glioma inactivated protein 1 (LGI1, n = 11), contactin-associated protein-2 (CASPR2, n = 8), or antibodies against the intracellular antigens glutamic acid decarboxylase 65 kDa (GAD65, n = 13) or Ma2 (n = 1). Patients with surface antibodies reached first seizure-freedom (88% vs. 7%, P < 0.001) and terminal seizure-freedom (80% vs. 7%, P < 0.001) more frequently. The time to first and terminal seizure-freedom and the time to freedom from ASM were shorter in the surface antibody group (Kaplan-Meier curves: P < 0.0001 for first seizure-freedom; P < 0.0001 for terminal seizure-freedom; P = 0.0042 for terminal ASM-freedom). Maximum ASM defined daily doses were higher in the groups with intracellular antibodies. Seizure-freedom was achieved after additional immunotherapy, not always accompanied by increased ASM doses. Titers of surface antibodies but not intracellular antibodies decreased over time. CONCLUSION: Seizures with surface antibodies should mostly be considered acute symptomatic and transient and not indicative of epilepsy. This has consequences for ASM prescription and social restrictions. Antibody titers correlate with clinical courses.


Assuntos
Antígenos de Superfície , Epilepsia , Autoanticorpos , Epilepsia/terapia , Humanos , Receptores de N-Metil-D-Aspartato , Estudos Retrospectivos , Convulsões
3.
Clin Neuroradiol ; 30(3): 435-445, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31942658

RESUMO

PURPOSE: The clinical variability of Blake's pouch cysts (BPC) may range from asymptomatic via ataxia to sequelae of decompensated hydrocephalus. On the other hand, Dandy-Walker malformation (DWM) and cerebellar vermis hypoplasia generally correlate with less favorable neurologic development. The aim was to illustrate the potential of prenatal and postnatal neuroimaging to distinguish a BPC or persistent BP from other posterior fossa malformations. METHODS: This pictorial review addresses the inconsistent nomenclature, clinical features, and magnetic resonance imaging (MRI) patterns of BPC and five differential diagnoses. The MRI findings of 11 patients, acquired at up to 3 T in 3 institutions, are demonstrated. Furthermore, the literature was searched for recent improvements in genetic and embryological background knowledge. RESULTS: Posterior fossa malformations often resemble each other and may even be imitated by sequelae of hemorrhagic, ischemic or infectious disruptions, i.e. congenital anomalies of morphology despite normal developmental potential. Hydrocephalus is a typical, albeit not always congenital finding in BPC. It is frequently associated with cerebellar disruptions and DWM; however, it is also a rare complication of posterior fossa arachnoid cysts. A moderately elevated vermis needs follow-up to confirm persistent BP versus vermian hypoplasia or DWM. The fetal cerebellar tail, previously assumed to be specific for DWM, may be imitated in cases of persistent BP. CONCLUSION: The accurate diagnosis of isolated BPC is not always straightforward, which is especially critical in the context of fetomaternal medicine. A detailed description of posterior fossa malformations is to be preferred over unspecific terminology.


Assuntos
Fossa Craniana Posterior/anormalidades , Cistos/congênito , Cistos/diagnóstico por imagem , Síndrome de Dandy-Walker/diagnóstico por imagem , Imageamento por Ressonância Magnética , Fossa Craniana Posterior/diagnóstico por imagem , Diagnóstico Diferencial , Feminino , Humanos , Hidrocefalia/congênito , Hidrocefalia/diagnóstico por imagem , Recém-Nascido , Gravidez , Diagnóstico Pré-Natal , Prognóstico , Terminologia como Assunto
4.
Cerebellum Ataxias ; 6: 4, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30873288

RESUMO

BACKGROUND: Fetal magnetic resonance imaging (MRI), mainly performed at standard field strength, plays a role in the classification of posterior fossa malformations. In the context of early second-trimester screening, upward rotation of the cerebellar vermis per se is usually compatible with a more favorable outcome than Dandy-Walker malformation and profound vermian hypoplasia. Delayed fenestration of Blake's pouch may either mimic vermian hypoplasia by compression or be associated with it in individual cases. To increase specificity, there is a growing interest in the use of high-field MRI which is believed to be safe as long as the specific absorption rate is kept within accepted limits. We aim to illustrate its added value during the second and third trimester. CASE PRESENTATION: In the first case, fetal MRI at 1.5 Tesla was performed at 21 and 27 weeks' gestation with sonographic follow up postnataly. In the second case, 3 Tesla MR images were acquired at 21 and 34 weeks' gestation as well as in the neonatal period. CONCLUSIONS: This pictorial case vignette supports the suggestion that mid-gestational MRI at 3 Tesla has the potential to exclude pronounced vermian hypoplasia with higher confidence than at 1.5 Tesla. However, the discrimination of mild hypoplasia from slight deformation of the cerebellar vermis will likely remain challenging.

5.
Artigo em Inglês | MEDLINE | ID: mdl-30678117

RESUMO

An imbalance between energy input and energy needs contributes to the growing incidence of overweight children. Pre-schoolers normally like to move, but even at this young age, they are already affected by a lack of physical activity and a high amount of screen time. Media consumption contributes to unhealthy diets and extends the length of time spent sitting. Longer periods of sitting are, independent of the level of activity, seen as a risk factor for the development of obesity. In the present study, 160 pre-schoolers and their parents (128 mothers, 121 fathers) were examined. The results show deviations from actual recommendations regarding physical activity, time spent sitting, dietary intake, and media consumption. Increased screen time was associated with a higher weight status among pre-school-aged children. To provide a healthy upbringing, prevention and intervention measures should be implemented on a behavioral and relational level.


Assuntos
Saúde da Criança , Dieta/estatística & dados numéricos , Exercício Físico/fisiologia , Saúde da Família , Tempo de Tela , Adulto , Áustria/epidemiologia , Criança , Pré-Escolar , Dieta/normas , Feminino , Humanos , Masculino , Obesidade/epidemiologia , Sobrepeso/epidemiologia , Pais
6.
Muscle Nerve ; 52(3): 437-9, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26111941

RESUMO

INTRODUCTION: Lipin 1 gene (LPIN1) mutations lead to cellular energy deficiency and cause up to 50% of the rhabdomyolysis episodes seen in pediatric patients. These episodes are associated with poor prognosis, as treatment options have been limited. We propose a novel therapeutic strategy based on prevention and early treatment of catabolism. METHODS: Five patients were diagnosed with LPIN1 mutations. They were instructed to maintain high caloric intake in situations possibly leading to catabolism such as viral infections or excessive physical activity. When an episode of rhabdomyolysis occurred, patients were treated with intravenous high-concentration glucose at first symptoms. RESULTS: The therapeutic strategies described limited the number of rhabdomyolyis episodes, and the duration of episodes was reduced from 7-10 days, as reported in the literature, to 5 days. CONCLUSION: In this small series, patients with LPIN1 mutations appear to have benefited from prevention and early treatment of catabolism.


Assuntos
Dietoterapia/métodos , Ingestão de Energia , Hidratação/métodos , Glucose/uso terapêutico , Rabdomiólise/prevenção & controle , Edulcorantes/uso terapêutico , Anestesia Geral/efeitos adversos , Áustria , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Atividade Motora , Mutação , Fosfatidato Fosfatase/genética , Rabdomiólise/etiologia , Rabdomiólise/terapia , Resultado do Tratamento , Viroses/complicações
7.
Eur J Paediatr Neurol ; 14(3): 274-7, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-19748808

RESUMO

Lyme borreliosis is a tick-borne spirochetal infection which affects the skin, joints, heart and nervous system. Children with a neuroborreliosis usually present with a facial nerve palsy or aseptic meningitis, but the spectrum also includes other rare manifestations. We report four unusual cases of childhood neuroborreliosis and show that seizures with regional leptomeningeal enhancement, acute transverse myelitis, meningoradiculitis with pain and paraesthesia and cranial nerve palsies other than facial nerve palsy can be the leading symptoms of children with neuroborreliosis. All children had serological evidence of an acute infection with Borrelia burgdorferi, a pleocytosis in the cerebrospinal fluid and a complete response to antibiotic treatment. An intrathecal synthesis of IgG antibodies was detected in three children. Thus, diagnostic work up in children with unusual neurological symptoms should include cerebrospinal fluid studies with determination of the white blood cell count and calculation of the antibody index against B. burgdorferi.


Assuntos
Doenças dos Nervos Cranianos/microbiologia , Neuroborreliose de Lyme/complicações , Neuroborreliose de Lyme/diagnóstico , Meningite/microbiologia , Mielite Transversa/microbiologia , Convulsões/microbiologia , Adolescente , Antibacterianos/uso terapêutico , Líquido Cefalorraquidiano/citologia , Criança , Feminino , Humanos , Imunoglobulina G/líquido cefalorraquidiano , Leucocitose/microbiologia , Neuroborreliose de Lyme/líquido cefalorraquidiano , Masculino , Radiculopatia/microbiologia
8.
Eur J Pediatr ; 167(10): 1141-7, 2008 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-18172680

RESUMO

The unfavorable impact of prematurity on the developing cerebellum was recently recognized, but the outcome after impaired cerebellar development as a prematurity-related complication is hitherto not adequately documented. Therefore we compared 31 preterm patients with disrupted cerebellar development to a control group of 31 gender and gestational age matched premature infants with normal cerebellar development. Supratentorial brain injuries during the neonatal period were comparable between the groups. At a minimum age of 24 months motor and mental development was assessed by standardized tests. Disrupted cerebellar development was associated with significantly poorer scores both in the subtests for neuromotor (p < 0.001) and mental development (p < 0.001), respectively. Mixed CP was diagnosed in 48% of affected patients, whereas none of the patients of the control group had mixed CP. Microcephaly and epilepsy were significantly related to disrupted cerebellar development. Preterm patients with disrupted cerebellar development exhibit poorer outcome results in all investigated variables. The role of the cerebellum in neurodevelopment after prematurity seems to be underestimated so far.


Assuntos
Cerebelo/lesões , Desenvolvimento Infantil/fisiologia , Recém-Nascido Prematuro , Cerebelo/diagnóstico por imagem , Cerebelo/crescimento & desenvolvimento , Pré-Escolar , Seguimentos , Humanos , Lactente , Recém-Nascido , Ultrassonografia
9.
Eur J Paediatr Neurol ; 12(6): 455-60, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18222715

RESUMO

OBJECTIVE: Abnormal cerebellar development was recently recognized to be related to prematurity. Aim of the present study was to evaluate preterm birth and possible peri- and postnatal risk factors associated with this type of brain injury. PATIENTS AND METHODS: We report on a series of 35 very low birth weight infants (birth weight 986+/-257g S.D.) born between 24 and 32 weeks of gestation (27.0+/-1.8 weeks of gestation S.D.) sustaining disruption of cerebellar development after preterm birth. Perinatal medical records of study patients were compared to 41 preterm control infants (birth weight 900+/-358g S.D., gestational age 26.3+/-2.1 weeks S.D.) with normal cerebellar development on MRI scan. RESULTS: A severely compromised postnatal condition with consecutive intubation and catecholamine support was found to be significant risk factor. Additional supratentorial hemorrhagic brain injury followed by posthemorrhagic hydrocephalus, neurosurgical interventions and hemosiderin deposits on the cerebellar surface were significantly related to disruptive cerebellar development. No other differences in perinatal factors were found between the groups. CONCLUSION: Premature birth between 24 and 32 gestational weeks associated with poor postnatal conditions and complicated supratentorial hemorrhagic brain lesions represents a high-risk situation for disruption of cerebellar development.


Assuntos
Cerebelo/crescimento & desenvolvimento , Recém-Nascido Prematuro/fisiologia , Corticosteroides/uso terapêutico , Adulto , Índice de Apgar , Biomarcadores , Peso ao Nascer/fisiologia , Doenças Cerebelares/congênito , Doenças Cerebelares/patologia , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Fossa Craniana Posterior/metabolismo , Feminino , Idade Gestacional , Hemossiderina/análise , Hemossiderina/metabolismo , Humanos , Recém-Nascido , Recém-Nascido de muito Baixo Peso , Modelos Logísticos , Imageamento por Ressonância Magnética , Masculino , Trabalho de Parto Prematuro , Valor Preditivo dos Testes , Gravidez , Estudos Retrospectivos , Fatores de Risco , Caracteres Sexuais , Ultrassonografia
10.
AJNR Am J Neuroradiol ; 26(7): 1659-67, 2005 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-16091510

RESUMO

BACKGROUND AND PURPOSE: Infants with very low birth weight are at high risk for cerebral lesions. Although supratentorial brain damage is a common radiologic finding, posterior fossa pathologies are rare. We studied the morphology of cerebellar involvement in a large series of 28 premature infants born before the 30th week of gestation to define typical patterns and identify possible risk factors for this pathology. METHODS: Cranial sonograms were obtained in the early neonatal period. MR imaging was performed between the 2nd month and the 6th year of life. Morphologic patterns of cerebellar involvement were evaluated. RESULTS: Three morphologic patterns of cerebellar involvement were recognized: (1) symmetric volume reduction of the cerebellar hemispheres, which were floating immediately beneath the tentorium, and a small vermis with preserved shape; (2) symmetrical reduction in hemispheric volume with an enlarged, balloon-shaped fourth ventricle and a small, deformed vermis; and (3) normal overall cerebellar shape with extensive reduction of its dimensions. A small brain stem with flattened anterior curvature of the pons and loss of supratentorial white matter was present in all patients. CONCLUSION: Symmetric cerebellar volume reduction was found as a consequence of extreme prematurity. Selective vulnerability of the developing cerebellum in the window of 24-30 weeks of gestation, combined with several additive perinatal risk factors (eg, hemosiderin deposits) seems to lead to destruction of immature structures and developmental arrest. Therefore, the resulting condition is the consequence of disrupted cerebellar development.


Assuntos
Cerebelo/crescimento & desenvolvimento , Recém-Nascido Prematuro/crescimento & desenvolvimento , Recém-Nascido de muito Baixo Peso , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Desenvolvimento Infantil , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Ultrassonografia
11.
J Perinat Med ; 33(1): 60-6, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-15841616

RESUMO

OBJECTIVE: The neonatal regional tertiary care center of the University of Vienna (VC) has been a member of the Vermont Oxford Neonatal Network (VONN) since 1994. During the period 1994--2002, important differences between the VC and the VONN in both pre- and postnatal management and in late morbidities such as chronic lung disease (CLD) and severe retinopathy of prematurity (ROP) were observed. We hypothesize that stabilization of very-low-birth-weight (VLBW) infants on nasal continuous positive airway pressure (NCPAP) immediately after birth, combined with a restrictive use of artificial ventilation, might be responsible for lower rates of CLD and ROP. PATIENTS AND METHODS: Obstetric and neonatal data for all 1299 VLBW infants (401-1500 g) from the VC were compared with corresponding data for the 201,167 VLBW infants from the VONN for the period 1994--2002 with regard to respiratory management and patient outcome. Morbidity criteria were in accordance with VONN definitions. RESULTS: The percentage range for treatment and morbidity criteria for the VC and VONN are related to differences among various years within the observation period. Infants were stabilized at birth on NCPAP in 45-86% of cases in the VC vs. 37-63% in the VONN, the rate of mechanical ventilation was 40-59% vs. 66-74%, and use of surfactant was 31-50% vs. 55-64%. CLD was diagnosed in 14-32% of cases in the VC vs. 27-39% in the VONN, discharge on supplemental oxygen took place in 2-4% vs. 12-17% of cases and ROP (stages III and IV) was found in 1-10% vs. 8-12%. CONCLUSION: The association of lower rates of CLD and ROP in the VC compared to the VONN might be related to differences in early respiratory management of VLBW infants at high risk of development of respiratory distress syndrome. This needs to be confirmed in a large multicenter trial.


Assuntos
Displasia Broncopulmonar/epidemiologia , Pressão Positiva Contínua nas Vias Aéreas , Recém-Nascido de muito Baixo Peso , Oxigenoterapia , Retinopatia da Prematuridade/epidemiologia , Áustria/epidemiologia , Displasia Broncopulmonar/etiologia , Feminino , Idade Gestacional , Humanos , Incidência , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Prontuários Médicos , Avaliação de Resultados em Cuidados de Saúde , Oxigenoterapia/efeitos adversos , Gravidez , Síndrome do Desconforto Respiratório do Recém-Nascido/terapia , Retinopatia da Prematuridade/etiologia , Estudos Retrospectivos
12.
Acta Med Austriaca ; 31(5): 182-4, 2004.
Artigo em Alemão | MEDLINE | ID: mdl-15747996

RESUMO

Gestational diabetes (GDM) is defined as any degree of glucose intolerance with onset or first recognition during pregnancy and is associated with increased feto-maternal morbidity as well as long-term complications in mothers and offspring. GDM is diagnosed by an oral glucose tolerance test (OGTT) or fasting glucose concentrations in the diabetic range. In case of a high risk for GDM/type 2 diabetes (history of GDM or prediabetes [impaired fasting glucose or impaired glucose tolerance]; malformation, stillbirth, successive abortions or birth-weight > 4500 g in previous pregnancies) performance of the OGTT (120 min; 75 g glucose) is recommended already in the first trimester and--if normal--the OGTT should be repeated in the second/third trimester. In case of clinical symptoms of diabetes (glucosuria, macrosomia) the test has to be performed immediately. All other women should undergo a diagnostic test between 24 and 28 gestational weeks. If fasting plasma glucose exceeds 95 mg/dl, 1 h 180 mg/dl and 2 hrs 155 mg/dl after glucose loading (OGTT) the woman is classified as GDM (one pathological value is sufficient). In this case a strict metabolic control is mandatory. All women should receive nutritional counseling and be instructed in blood glucose self-monitoring. If blood glucose levels cannot be maintained in the normal range (fasting < 95 mg/dl and 1 h after meals < 130 mg/dl) insulin therapy should be initiated. Maternal and fetal monitoring is required in order to minimize maternal and fetal/neonatal morbidity and perinatal mortality. After delivery all women with GDM have to be reevaluated as to their glucose tolerance by a 75 g OGTT (WHO criteria).


Assuntos
Diabetes Gestacional/diagnóstico , Diabetes Gestacional/terapia , Glicemia/metabolismo , Diabetes Mellitus Tipo 2/epidemiologia , Feminino , Morte Fetal , Macrossomia Fetal , Teste de Tolerância a Glucose , Glicosúria , Humanos , Mortalidade Materna , Gravidez
13.
Pediatr Neurol ; 28(4): 313-7, 2003 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-12849889

RESUMO

We report on a boy who presented at birth with gastroschisis and thereafter developed the characteristic clinical symptoms of infantile sialic acid storage disease within the first two months of life. Measurements of free sialic acid excretion (tenfold increase) in the urine and a 15-fold elevation of free sialic acid in cultured fibroblasts proved the diagnosis. The clinical course was complicated by hypertrophic cardiomyopathy, recurrent infections, hypothyroidism, and intestinal protein losses, which had never been described before in an infantile sialic acid storage disease patient. The child died at the age of 10 months. Clinical and laboratory findings are discussed and compared with other cases described in the literature.


Assuntos
Gastrosquise/diagnóstico , Transtornos Heredodegenerativos do Sistema Nervoso/diagnóstico , Enteropatias Perdedoras de Proteínas/diagnóstico , Doença do Armazenamento de Ácido Siálico/diagnóstico , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/genética , Evolução Fatal , Seguimentos , Gastrosquise/genética , Transtornos Heredodegenerativos do Sistema Nervoso/genética , Humanos , Lactente , Recém-Nascido , Masculino , Enteropatias Perdedoras de Proteínas/genética , Doença do Armazenamento de Ácido Siálico/genética
14.
Curr Opin Urol ; 12(6): 461-4, 2002 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-12409872

RESUMO

PURPOSE OF REVIEW: Neural tube defects, including anencephaly, meningomyelocele and encephalocele, are among the most common birth defects that result in severe mortality and morbidity. Neural tube defects occur with an incidence of 1-5 per 1000 births, showing marked geographic, ethnic and temporal variations. Although clear evidence exists on preventability of a large proportion of neural tube defects by periconceptional folic acid intake, only a low percentage of women are following the recommendations. RECENT FINDINGS: In the past few decades diagnostic modalities have undergone a change from blood screening tests, such as alpha-fetoprotein, to imaging methods. Ultrasound has become the standard tool for early diagnosis, whereas fetal magnetic resonance imaging has gained importance in evaluating distinct coexisting anomalies of the central nervous system. Since the United States authorized the addition of folic acid to grain products in 1996, many other countries are considering folic acid fortification of their grain products, or have started fortification. Hitherto there is no consensus either to the duration of supplementation or to the best dose. SUMMARY: Ultrasound and magnetic resonance imaging offer the possibility of early and accurate diagnosis of neural tube defects, and have therefore improved medical counseling and parents' decision making. Food fortification is the most practical way of ensuring sufficient folate supplementation and is warranted during the periconceptional period.


Assuntos
Defeitos do Tubo Neural/diagnóstico , Defeitos do Tubo Neural/prevenção & controle , Diagnóstico Diferencial , Ácido Fólico/administração & dosagem , Humanos , Incidência , Recém-Nascido , Imageamento por Ressonância Magnética , Defeitos do Tubo Neural/diagnóstico por imagem , Defeitos do Tubo Neural/epidemiologia , Ultrassonografia Pré-Natal , alfa-Fetoproteínas/análise
15.
Brain Pathol ; 12(3): 287-99, 2002 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-12146797

RESUMO

Myelin-oligodendrocyte-glycoprotein (MOG)-induced experimental autoimmune encephalomyelitis (EAE) in rats is a chronic inflammatory demyelinating disease of the central nervous system (CNS) strongly mimicking multiple sclerosis (MS). We determined the involvement of macrophages and microglia in the lesions of MOG-EAE in relation to different major histocompatibility complex (MHC, RT1 in rat) haplotypes. We used intra-RT1 recombinant rat strains with recombinations between the RT1a and RT1u haplotypes on the disease permissive LEW non-MHC genome. Activated microglia and macrophages were identified morphologically and by expression of ED1 and allograft inhibitory factor-1 (AIF-1), and differentiated by their morphological phenotype. White matter lesions contained more macrophages and less microglia compared to grey matter lesions. Similarly active lesions were mainly infiltrated by macrophages, while microglia were abundant in inactive demyelinated plaques. In addition, we found a highly significant genetic association between a macrophage or microglia dominated lesional phenotype, which was independent from location and activity of the lesions. This was not only the case in demyelinating plaques of chronic EAE, but also in purely inflammatory lesions of acute passive transfer EAE. Rat strains with an u-haplotype in both the Class II and the telomeric non-classical Class I region revealed inflammatory and demyelinating lesions, which were dominated by activated microglia. The a-haplotype in any of these regions was associated with macrophage dominated lesions. A comparison of lesions, exactly matched for stages of demyelinating activity in these different rat strains, showed that in spite of a similar extent of demyelination, axonal injury was significantly less in microglia compared to macrophage dominated lesions. Thus, our studies document a genetic influence of the MHC-region on the relative contribution of macrophages versus microglia in the pathogenesis of EAE.


Assuntos
Axônios/patologia , Encefalomielite Autoimune Experimental/metabolismo , Encefalomielite Autoimune Experimental/patologia , Genes MHC da Classe II , Genes MHC Classe I , Macrófagos/metabolismo , Microglia/metabolismo , Animais , Encefalomielite Autoimune Experimental/induzido quimicamente , Encefalomielite Autoimune Experimental/genética , Encefalomielite Autoimune Experimental/imunologia , Feminino , Haplótipos , Macrófagos/imunologia , Microglia/imunologia , Esclerose Múltipla/imunologia , Esclerose Múltipla/patologia , Proteínas da Mielina , Glicoproteína Associada a Mielina , Glicoproteína Mielina-Oligodendrócito , Ratos , Ratos Endogâmicos Lew
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