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1.
Sleep Breath ; 16(3): 737-46, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21826530

RESUMO

PURPOSE: The aim of this study was to compare the pharyngeal airway size in different cranio-cervical postures in children with sleep-disordered breathing (SDB) and asymptomatic control children. We tested the hypothesis that the site of the most constricted pharyngeal airway in SDB children is not affected by head posture. METHODS: The study group comprised 29 children (14 boys, 15 girls, mean age 7.3 ± 1.37 years, range 4.8-9.8 years) with SDB. A control group of 29 age- and gender-matched healthy children was recruited. The pharyngeal airway of the children was imaged with a low-field 0.23-T open-configuration magnetic resonance imaging scanner in three different head postures: neutral, extension, and flexion. Inter-group differences in pharyngeal variables were analyzed using two-sided paired t test and intra-group differences using Bonferroni and Sidak correlations for multiple comparisons. RESULTS: Nasopharyngeal airway was not affected by head posture. Head extension had no significant effect on the most constricted retropalatal airway in the SDB group, but it increased the hypopharyngeal airway (P = 0.000) significantly when compared to neutral head posture. The hypopharyngeal airway increased more in the SDB group than in the asymptomatic children (P = 0.031). The retropalatal oropharynx was on the whole significantly narrower in the SDB children compared with the controls in all head postures (neutral P = 0.000, extended P = 0.001, flexed P = 0.000). CONCLUSIONS: Head posture is an important factor in maintaining airway patency. We suggest that the effectiveness of neuromuscular compensation may be compromised in constricted retropalatal airways. Instead, the hypopharyngeal airway is enlarged suggesting possible neuromuscular compensation for oropharyngeal narrowing in children with SDB.


Assuntos
Movimentos da Cabeça , Imageamento por Ressonância Magnética , Faringe/fisiopatologia , Postura/fisiologia , Síndromes da Apneia do Sono/fisiopatologia , Apneia Obstrutiva do Sono/fisiopatologia , Resistência das Vias Respiratórias/fisiologia , Criança , Pré-Escolar , Constrição Patológica/diagnóstico , Constrição Patológica/fisiopatologia , Feminino , Finlândia , Humanos , Hipertrofia , Masculino , Tonsila Palatina/patologia , Faringe/patologia , Polissonografia , Valores de Referência , Síndromes da Apneia do Sono/diagnóstico , Apneia Obstrutiva do Sono/diagnóstico , Ronco/diagnóstico , Ronco/fisiopatologia
2.
Neurol Res Int ; 2011: 829365, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21789280

RESUMO

Objective. To evaluate spectral heart rate (HR) variation using short-term ECG recordings at rest and during the tilt table test. Methods. The values of spectral components of total power (TP), high-frequency power (HF), low-frequency power (LF) and LF: HF ratio were measured at rest and during the head-up tilt in patients with temporal lobe epilepsy (TLE) and their control subjects. Results. Compared to the control subjects, patients with TLE had lower HF (P < 0.05) and LF : HF ratio (P < 0.05) at rest and lower TP (P < 0.001), HF (P < 0.05), and LF (P < 0.05) during the head-up tilt. Upon changing from supine to standing position TP (P < 0.05) and LF (P < 0.05) were attenuated in patients with TLE compared to the control subjects. Conclusion. These results suggest that spectral analysis of HR variation from ECG recordings of short duration may add value to assessment of autonomic nervous system function using autonomic cardiac tests in patients with TLE.

3.
Angle Orthod ; 81(3): 433-9, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21261486

RESUMO

OBJECTIVE: To test the hypothesis that the capability of two-dimensional lateral cephalogram in recognizing pharyngeal obstruction is poor compared with the capability of three-dimensional magnetic resonance imaging (MRI) and clinical observation of tonsillar size. MATERIALS AND METHODS: The study participants were 36 prepubertal children (19 male, 17 female; mean age 7.3 ± 1.43 years, range 4.8-9.8 years) with sleep-disordered breathing diagnosed by nocturnal polygraphy. Pharyngeal airway was imaged with a low-field open-configuration MRI scanner. Tonsillar size was clinically determined and lateral skull radiographs were taken and measured. Pearson correlation coefficients were calculated between the clinical, cephalometric, and MRI variables. RESULTS: Nasopharyngeal and retropalatal cephalometric variables had a significant positive correlation with the MRI findings. Both techniques showed the narrowest measurement to be located in the retropalatal region. Clinical assessment of tonsillar size correlated inversely with MRI findings such as minimal retropalatal cross-sectional airway area (P  =  .000), minimal retroglossal cross-sectional airway area (P  =  .015), and intertonsillar airway width (P  =  .000). Cephalometric soft palate and tonsillar area correlated with clinical tonsillar size (P  =  .001). CONCLUSIONS: The hypothesis is rejected. The findings confirm that the lateral cephalogram is a valid method for measuring dimensions of the nasopharyngeal and retropalatal region. When evaluating oropharyngeal size, clinical assessment of tonsillar size is a relatively reliable method.


Assuntos
Obstrução das Vias Respiratórias/diagnóstico , Cefalometria , Nasofaringe/patologia , Orofaringe/patologia , Síndromes da Apneia do Sono/patologia , Obstrução das Vias Respiratórias/patologia , Criança , Pré-Escolar , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Palato Mole/patologia , Tonsila Palatina/anatomia & histologia , Padrões de Referência , Reprodutibilidade dos Testes
4.
J Neurosci ; 30(43): 14490-501, 2010 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-20980607

RESUMO

Although the Schwann cell basement membrane (BM) is required for normal Schwann cell terminal differentiation, the role of BM-associated collagens in peripheral nerve maturation is poorly understood. Collagen XV is a BM zone component strongly expressed in peripheral nerves, and we show that its absence in mice leads to loosely packed axons in C-fibers and polyaxonal myelination. The simultaneous lack of collagen XV and another peripheral nerve component affecting myelination, laminin α4, leads to severely impaired radial sorting and myelination, and the maturation of the nerve is permanently compromised, contrasting with the slow repair observed in Lama4-/- single knock-out mice. Moreover, the Col15a1-/-;Lama4-/- double knock-out (DKO) mice initially lack C-fibers and, even over 1 year of age have only a few, abnormal C-fibers. The Lama4-/- knock-out results in motor and tactile sensory impairment, which is exacerbated by a simultaneous Col15a1-/- knock-out, whereas sensitivity to heat-induced pain is increased in the DKO mice. Lack of collagen XV results in slower sensory nerve conduction, whereas the Lama4-/- and DKO mice exhibit increased sensory nerve action potentials and decreased compound muscle action potentials; x-ray diffraction revealed less mature myelin in the sciatic nerves of the latter than in controls. Ultrastructural analyses revealed changes in the Schwann cell BM in all three mutants, ranging from severe (DKO) to nearly normal (Col15a1-/-). Collagen XV thus contributes to peripheral nerve maturation and C-fiber formation, and its simultaneous deletion from neural BM zones with laminin α4 leads to a DKO phenotype distinct from those of both single knock-outs.


Assuntos
Membrana Basal/fisiologia , Colágeno/genética , Colágeno/fisiologia , Laminina/genética , Laminina/fisiologia , Nervos Periféricos/fisiologia , Distúrbios Somatossensoriais/genética , Potenciais de Ação/fisiologia , Animais , Axônios/fisiologia , Axônios/ultraestrutura , Membrana Basal/ultraestrutura , Comportamento Animal/fisiologia , Eletrofisiologia , Ensaio de Imunoadsorção Enzimática , Masculino , Camundongos , Camundongos Knockout , Microscopia Imunoeletrônica , Neurônios Motores/fisiologia , Bainha de Mielina/fisiologia , Fibras Nervosas Amielínicas/fisiologia , Condução Nervosa/fisiologia , Nervos Periféricos/ultraestrutura , Estimulação Física , Reflexo/fisiologia , Células Receptoras Sensoriais/fisiologia , Limiar Sensorial/fisiologia , Distúrbios Somatossensoriais/fisiopatologia , Difração de Raios X
5.
Duodecim ; 126(16): 1953-8, 2010.
Artigo em Finlandês | MEDLINE | ID: mdl-20957795

RESUMO

Atrophy demarcating to musculus teres minor is seen in magnetic resonance imaging of the shoulder region in 3 to 5.5% of investigations. We describe seven patients with prolonged or recurrent pain of the shoulder region, who were diagnosed in ENMG with damage of the axillary nerve brand to m. teres minor. Probable causes included tear of the rotator cuff, luxation of the shoulder joint, nerve entrapment in the quadrilateral space, neuritis of the brachial plexus and iatrogenic damage associated with shoulder arthroscopy. This nerve damage cannot be proved clinically.


Assuntos
Músculo Esquelético/inervação , Atrofia Muscular/patologia , Manguito Rotador/inervação , Artroscopia/efeitos adversos , Axila/inervação , Axila/patologia , Humanos , Doença Iatrogênica , Imageamento por Ressonância Magnética , Síndromes de Compressão Nervosa/patologia , Neurite (Inflamação)/patologia , Manguito Rotador/patologia
6.
BMC Neurosci ; 11: 88, 2010 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-20673357

RESUMO

BACKGROUND: Early auditory experiences are a prerequisite for speech and language acquisition. In healthy children, phoneme discrimination abilities improve for native and degrade for unfamiliar, socially irrelevant phoneme contrasts between 6 and 12 months of age as the brain tunes itself to, and specializes in the native spoken language. This process is known as perceptual narrowing, and has been found to predict normal native language acquisition. Prematurely born infants are known to be at an elevated risk for later language problems, but it remains unclear whether these problems relate to early perceptual narrowing. To address this question, we investigated early neurophysiological phoneme discrimination abilities and later language skills in prematurely born infants and in healthy, full-term infants. RESULTS: Our follow-up study shows for the first time that perceptual narrowing for non-native phoneme contrasts found in the healthy controls at 12 months was not observed in very prematurely born infants. An electric mismatch response of the brain indicated that whereas full-term infants gradually lost their ability to discriminate non-native phonemes from 6 to 12 months of age, prematurely born infants kept on this ability. Language performance tested at the age of 2 years showed a significant delay in the prematurely born group. Moreover, those infants who did not become specialized in native phonemes at the age of one year, performed worse in the communicative language test (MacArthur Communicative Development Inventories) at the age of two years. Thus, decline in sensitivity to non-native phonemes served as a predictor for further language development. CONCLUSION: Our data suggest that detrimental effects of prematurity on language skills are based on the low degree of specialization to native language early in development. Moreover, delayed or atypical perceptual narrowing was associated with slower language acquisition. The results hence suggest that language problems related to prematurity may partially originate already from this early tuning stage of language acquisition.


Assuntos
Percepção Auditiva/fisiologia , Discriminação Psicológica/fisiologia , Recém-Nascido Prematuro/fisiologia , Desenvolvimento da Linguagem , Fala/fisiologia , Estimulação Acústica , Análise de Variância , Mapeamento Encefálico , Córtex Cerebral/fisiologia , Pré-Escolar , Eletroencefalografia , Seguimentos , Humanos , Lactente , Recém-Nascido , Testes de Linguagem , Processamento de Sinais Assistido por Computador , Inquéritos e Questionários
7.
Clin Auton Res ; 20(3): 199-204, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20213266

RESUMO

OBJECTIVES: Optic neuritis (ON) is a frequent initial manifestation of multiple sclerosis (MS). Autonomic failure affecting the pupillary function is known to exist in ON patients, and patients with MS are known to have more widespread autonomic dysfunction. For example, sudomotor dysfunction is well known in MS. We carried out a study investigating sudomotor abnormalities in ON patients, and later followed these patients at risk of developing MS. METHODS: Firstly, sudomotor function was measured by sympathetic skin responses (SSRs) in 13 ON patients and in 22 healthy controls. Secondly, thermoregulatory sweating was measured by an evaporimeter after a heating stimulus in 13 ON patients and in 14 healthy control subjects. RESULTS: The SSR latencies to electrical stimuli in the ON patients were significantly prolonged in the upper and lower extremities (p = 0.013-0.002), indicating sudomotor dysfunction. No statistically significant thermoregulatory sweating dysfunction could be found in the ON patients compared to the controls. All ON patients underwent a follow-up (mean duration 12.5 years) during which eight ON patients (62%) converted to clinically definite MS. It seemed that SSRs had no value for identifying patients who later developed MS. INTERPRETATION: Our results enlarge the knowledge of autonomic disorders in ON patients, showing that sudomotor function may also be involved.


Assuntos
Doenças do Sistema Nervoso Autônomo/fisiopatologia , Regulação da Temperatura Corporal/fisiologia , Resposta Galvânica da Pele/fisiologia , Esclerose Múltipla/fisiopatologia , Neurite Óptica/fisiopatologia , Sudorese/fisiologia , Estimulação Acústica , Adulto , Doenças do Sistema Nervoso Autônomo/patologia , Encéfalo/patologia , Estimulação Elétrica , Feminino , Seguimentos , Humanos , Imageamento por Ressonância Magnética , Masculino , Esclerose Múltipla/patologia , Neurite Óptica/patologia , Risco , Doenças da Medula Espinal/patologia , Sistema Nervoso Simpático/fisiopatologia , Perda Insensível de Água/fisiologia , Adulto Jovem
8.
Eur J Orthod ; 32(6): 662-71, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20305055

RESUMO

The present study aimed to assess the cephalometric features in children with sleep-disordered breathing (SDB). The subjects were 70 children (34 boys and 36 girls, mean age 7.3, SD 1.72, range 4.2-11.9 years) with habitual snoring and symptoms of obstructive sleep disorder for more than 6 months. On the basis of overnight polygraphic findings, the subjects were further divided into subgroups of 26 children with diagnosed obstructive sleep apnoea (OSA), 17 with signs of upper airway resistance syndrome (UARS), and 27 with snoring. A control group of 70 non-obstructed children matched for age and gender was selected. Lateral skull radiographs were taken and cephalograms were traced and measured. The differences between the matched groups were studied using t-test for paired samples. Differences between the subgroups were studied using analysis of variance followed by Duncan's multiple comparison method. Children with SDB were characterized by an increased antero-posterior jaw relationship (P = 0.001), increased mandibular inclination in relation to the palatal line (P = 0.01), increased total (P = 0.019) and lower (P = 0.005) anterior face heights, a longer (P = 0.018) and thicker (P = 0.002) soft palate, smaller airway diameters at multiple levels of the naso- and oropharynx, larger oropharyngeal airway diameter at the level of the base of the tongue (P = 0.011), lower hyoid bone position (P = 0.000), and larger craniocervical angles (NSL-CVT, P = 0.014; NSL-OPT, P = 0.023) when compared with the non-obstructed controls. When divided into subgroups according to the severity of the disorder, OSA children deviated significantly from the control children especially in the oropharyngeal variables. Children with UARS and snoring also deviated from the controls, but the obstructed subgroups were not confidently distinguishable from each other by cephalometric measurements. Logistic regression analysis indicated that UARS and OSA were associated with decreased pharyngeal diameters at the levels of the adenoids (PNS-ad1) and tip of the uvula (u1-u2), an increased diameter at the level of the base of the tongue (rl1-rl2), a thicker soft palate, and anteriorly positioned maxilla in relation to the cranial base. Lateral cephalogram may thus reveal important predictors for SDB in children. Attention should be paid to pharyngeal measurements. Systematic orthodontic evaluation of SDB children is needed because of the effects of obstructed sleep on the developing craniofacial skeleton.


Assuntos
Cefalometria , Apneia Obstrutiva do Sono/patologia , Resistência das Vias Respiratórias , Análise de Variância , Estudos de Casos e Controles , Vértebras Cervicais/patologia , Criança , Pré-Escolar , Feminino , Humanos , Osso Hioide/patologia , Modelos Logísticos , Masculino , Palato Mole/patologia , Faringe/patologia , Postura , Ronco/patologia , Estatísticas não Paramétricas
9.
Neonatology ; 97(1): 15-21, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-19571583

RESUMO

BACKGROUND: New imaging techniques allow a detailed visualization of the brain and the findings possibly correlate with neurophysiologic measurements and neurosensory and motor outcomes. Postnatal clinical factors known to associate with neurologic disabilities may contribute to brain abnormalities not visible to the naked eye. OBJECTIVES: We evaluated whether quantitative measurement of organized water diffusion on MR imaging, apparent diffusion coefficient (ADC), relates to neurophysiologic function and to clinical risk factors and motor outcome in preterm infants. METHODS: Diffusion-weighted imaging was successfully performed at term age on 30 infants born <32 weeks of gestation, birth weight <1,000 g. Infants with major destructive brain lesions were excluded from the final analysis (n = 2). ADC was calculated within regions of interest placed in pons and in white matter regions known to contain motor fibers. Brain stem auditory evoked potentials (BAEP) were registered at term age. Gross motor outcome was assessed using Griffiths Scales at 2 years of corrected age. RESULTS: A positive correlation was found between ADC in the pons and the latency of wave III in BAEP (r = 0.619, p = 0.024). Need for inotrope support during the postnatal period and bronchopulmonary dysplasia associated with high ADC values in the pons and in the corona radiata. Infants with poor gross motor outcome had higher ADC in the corona radiata than infants with better outcome (mean = 1.343 vs. 1.197, p = 0.004). CONCLUSIONS: This is the first study to report a relationship between ADC and BAEP measurements in the pons. The study may add to the current knowledge about the relation between postnatal clinical factors and diffusion-weighted imaging when evaluating the high-risk infants.


Assuntos
Córtex Cerebral/patologia , Imagem de Difusão por Ressonância Magnética/métodos , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Recém-Nascido Prematuro/fisiologia , Tratos Piramidais/patologia , Peso ao Nascer , Mapeamento Encefálico , Displasia Broncopulmonar/patologia , Displasia Broncopulmonar/fisiopatologia , Córtex Cerebral/fisiopatologia , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Atividade Motora , Ponte , Tratos Piramidais/fisiopatologia , Síndrome do Desconforto Respiratório do Recém-Nascido/patologia , Síndrome do Desconforto Respiratório do Recém-Nascido/fisiopatologia
10.
Eur J Orthod ; 31(2): 160-7, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19028674

RESUMO

The aim of the present study was to examine the effects of nocturnal breathing disorders such as obstructive sleep apnoea (OSA) and snoring on developing dental arches. The study group comprised 41 children (22 males, 19 females, mean age 7.2 years, standard deviation 1.93) with diagnosed OSA. Age- and gender-matched groups of 41 snoring and 41 non-obstructed control children were selected. Orthodontic examination was carried out and dental impressions were taken. Malocclusions were diagnosed clinically and 13 linear variables were measured from the dental casts. The differences between the dental arch measurements of the OSA, snoring, and control groups were studied using analysis of variance followed by Duncan's multiple comparison method. Children with diagnosed OSA had a significantly increased overjet, a reduced overbite, and narrower upper and shorter lower dental arches when compared with the controls. Snoring children had similar but not as significant differences as OSA children when compared with the controls. There were more children with an anterior open bite (AOB) in the OSA group (P=0.016) and with a Class II or asymmetric molar relationship in the groups of OSA (P=0.013) and snoring (P=0.004) subjects compared with the non-obstructed controls. There were more subjects with mandibular crowding (P=0.002) and with an AOB (P=0.019) with an increasing obstructive apnoea-hypopnoea index (AHI). These findings are in agreement with previous studies of the effects of increased upper airway resistance on dental arch morphology and can be explained by long-term changes in the position of the head, mandible, and tongue in order to maintain airway adequacy during sleep.


Assuntos
Arco Dental/patologia , Apneia Obstrutiva do Sono/patologia , Resistência das Vias Respiratórias/fisiologia , Dente Pré-Molar/patologia , Estudos de Casos e Controles , Cefalometria , Criança , Pré-Escolar , Dente Canino/patologia , Feminino , Humanos , Masculino , Má Oclusão/diagnóstico , Má Oclusão Classe II de Angle/diagnóstico , Mandíbula/patologia , Maxila/patologia , Modelos Dentários , Dente Molar/patologia , Mordida Aberta/diagnóstico , Tonsila Palatina/patologia , Polissonografia , Postura , Ventilação Pulmonar/fisiologia , Apneia Obstrutiva do Sono/classificação , Ronco/patologia , Dente Decíduo/patologia
11.
Epilepsy Behav ; 10(1): 77-83, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17098479

RESUMO

The purpose of the analysis described here was to assess reproductive endocrine disorders in 148 women with epilepsy (WWE) by epilepsy type and antiepileptic drug use. Women with idiopathic generalized epilepsy had a higher prevalence of reproductive endocrine disorders than control subjects. In addition, hyperandrogenism, polycystic ovaries, and polycystic ovary syndrome were more prevalent in WWE on valproate than in WWE taking other drugs or control women. The use of VPA was a predictor of the development of polycystic ovaries and polycystic ovary syndrome, and the use of valproate and younger age predicted the development of hyperandrogenism. In conclusion, both idiopathic generalized epilepsy and valproate were associated with an increased risk of reproductive endocrine disorders in WWE in this post hoc reanalysis of data on a large number of WWE. This was especially evident if the epilepsy was active and required treatment early in life.


Assuntos
Epilepsia/classificação , Epilepsia/fisiopatologia , Hiperandrogenismo/etiologia , Síndrome do Ovário Policístico/etiologia , Adolescente , Adulto , Análise de Variância , Anticonvulsivantes/efeitos adversos , Feminino , Humanos , Modelos Logísticos , Radioimunoensaio/métodos , Reprodução , Estudos Retrospectivos , Testosterona/sangue , Ácido Valproico/efeitos adversos
12.
Epilepsia ; 45(8): 933-9, 2004 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-15270759

RESUMO

PURPOSE: Cardiovascular dysregulation has been detected in patients with temporal lobe epilepsy (TLE) by using cardiovascular reflex tests and analysis of heart rate variability (HRV). The two methods have not previously been used in the same study to compare them in the assessment of cardioregulatory function. Magnetic resonance imaging (MRI) is considered the best method to reveal structural changes such as hippocampal sclerosis associated with TLE. It is not known whether these structural changes modify cardioregulatory function in patients with TLE. METHODS: Standard cardiovascular reflex tests and analysis of spectral and dynamic measures from 24-h electrocardiogram (ECG) recordings were performed for eight patients with and 31 patients without hippocampal sclerosis and for 72 control subjects. MRI also was performed in each patient to reveal hippocampal sclerosis. RESULTS: Various measures of cardiovascular reflexes and HRV were diminished in patients with TLE compared with the control subjects. No significant differences were found in the measures obtained from the cardiovascular reflex tests or analysis of HRV between those with and without hippocampal sclerosis, although a nonsignificant trend toward reduced values was seen among those with hippocampal sclerosis. The values of cardiovascular reflexes and spectral analysis of HRV correlated with each other. CONCLUSIONS: These results suggest that functional rather than structural changes related to TLE are involved mainly as a mechanism of altered cardioregulatory function. The cardiovascular reflex test and analysis of HRV both appear to be useful in studying cardioregulation in patients with TLE.


Assuntos
Sistema Nervoso Autônomo/fisiopatologia , Sistema Cardiovascular/fisiopatologia , Eletroencefalografia/estatística & dados numéricos , Epilepsia do Lobo Temporal/fisiopatologia , Hipocampo/patologia , Adulto , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/fisiopatologia , Ritmo Circadiano/fisiologia , Epilepsia do Lobo Temporal/patologia , Feminino , Lateralidade Funcional , Testes de Função Cardíaca , Frequência Cardíaca/fisiologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Monitorização Fisiológica/estatística & dados numéricos , Esclerose
13.
J Neurol ; 251(5): 556-63, 2004 May.
Artigo em Inglês | MEDLINE | ID: mdl-15164188

RESUMO

Computed tomography provides a sensitive method for investigating skeletal muscle changes in neuromuscular diseases, but this method has not been applied to mitochondrial myopathies. We characterized the pattern of muscle involvement in patients with the 3243A>G mutation in mitochondrial DNA (mtDNA), the common MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) mutation. Twenty-four patients, age 19-73 years, with 3243A>G were examined. Clinical evaluation included assessment of muscle strength and functional capacity. All the patients underwent muscle computed tomography, and muscle samples from 17 of them were examined for the presence of ragged red fibres and for the 3243A>G heteroplasmy. Venous blood lactate at rest and serum creatine kinase were determined. Clinical myopathy was found in six patients, while nine showed mild muscle weakness and nine had normal muscle function. The upper and lower limbs were equally affected, but the proximal muscles were more severely affected than the distal ones. CT revealed abnormalities in the muscles of 13 patients (54%; 95% confidence interval, 33-76%), including the six with clinical myopathy and seven without clinical myopathy. Myopathic changes were found most frequently in the pelvic muscles, with predominant involvement of the gluteus maximus. These data show that CT reveals frequent abnormal findings in the muscle of patients with the 3243A>G mtDNA mutation. Muscle CT is a useful adjunct to clinical evaluation in these patients.


Assuntos
DNA Mitocondrial/genética , Síndrome MELAS/patologia , Músculo Esquelético/patologia , Mutação Puntual , Tomógrafos Computadorizados , Adulto , Idoso , Eletromiografia/métodos , Feminino , Humanos , Síndrome MELAS/genética , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/metabolismo , Estatísticas não Paramétricas
14.
Clin Auton Res ; 14(2): 119-24, 2004 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15095055

RESUMO

Diminished heart rate (HR) variability has been reported in patients with early phase Parkinson's disease (PD) using standardized cardiovascular reflex tests. However, limited data exist on HR variability during sleep; thus the present study was performed to investigate the characteristics of HR variability during different sleep stages. The HR variability of 21 newly diagnosed and untreated PD patients and of 22 control subjects was evaluated by using time domain, frequency domain and non-linear methods and by analyzing HR reactions to body movements during the different sleep stages (non-REM stages S1-4 and the REM stage). The nocturnal cardiac autonomic control was disturbed in PD patients compared to controls both during sleep and waking. HR reactions to body movements were decreased especially during REM sleep referring to defective sympathetic cardiovascular control. High frequency spectral power of HR variability was attenuated in the patients in waking and during non-REM sleep but not during REM sleep suggesting that parasympathetic cardiovascular control is also affected in early PD. However, the variance of R-R intervals during non-REM sleep was significantly increased in PD patients. Especially during this sleep stage the patients also moved more than the controls. HR variability is decreased not only in waking but also during sleep in PD patients. However, the increased variance of HR during non-REM sleep refers that in early phase of PD cardiovascular system is still able to react to changing body circumstances. Furthermore, our findings suggest that the indicators measuring the dominant sympathetic or parasympathetic activity of each given sleep stage are the most sensitive measures in revealing disturbed nocturnal ANS function.


Assuntos
Sistema Nervoso Autônomo/fisiopatologia , Ritmo Circadiano/fisiologia , Coração/inervação , Coração/fisiologia , Doença de Parkinson/fisiopatologia , Adulto , Idoso , Feminino , Frequência Cardíaca/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Movimento , Sono REM , Vigília
15.
J Neurol ; 250(9): 1063-9, 2003 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-14504967

RESUMO

OBJECTIVE: To assess the influence of central and peripheral neurological diseases on the incidence of accidental falls of the aged. DESIGN: 1. Case-control study with cross-section at two years and 2. prospective study in a follow-up up to seven years thereafter. SETTING: Sample of a population study including all 589 inhabitants older than 70 years in three rural communities. PARTICIPANTS: 44 subjects with recurrent falls during two years' follow-up and 41 age and sex matched controls. MEASURES: Neurological diseases and evaluation, other diseases, and incidence of falls during the seven years' follow-up after the cross-section. RESULTS: Compared with the controls the fallers had more often multiple vascular lesions of the brain, extrapyramidal symptoms and signs as well as lumbar nerve root lesions. In the follow-up, cerebrovascular disease, especially with multiple lesions and residual signs of pyramidal tract lesion, Parkinson's disease, rigidity and hypokinesia were associated with increases risk of falling. In multivariate analysis signs of pyramidal tract lesion, rigidity and prior falls were predictors of falls. An increase in the incidence of falls was also associated with vascular lesion of the cerebellum, cerebral white matter hypodensity and cortical atrophy visible on CT. CONCLUSIONS: High incidence of falls was associated with chronic central nervous system diseases. Lumbar root lesions were more common among the fallers but did not increase the incidence of falls in the follow-up. Neurological diseases and evaluation, other diseases, and incidence of falls during the seven years' follow-up after the cross-section. Compared with the controls the fallers had more often multiple vascular lesions of the brain, extrapyramidal symptoms and signs as well as lumbar nerve root lesions. In the follow-up, cerebrovascular disease, especially with multiple lesions and residual signs of pyramidal tract lesion, Parkinson's disease, rigidity and hypokinesia were associated with increased risk of falling. In multivariate analysis signs of pyramidal tract lesion, rigidity, and prior falls were predictors of falls. An increase in the incidence of falls was also associated with vascular lesion of the cerebellum, cerebral white matter hypodensity and cortical atrophy visible on CT.


Assuntos
Acidentes por Quedas/estatística & dados numéricos , Doenças do Sistema Nervoso/complicações , Doenças do Sistema Nervoso/epidemiologia , Acidentes por Quedas/prevenção & controle , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Intervalos de Confiança , Estudos Transversais , Feminino , Seguimentos , Humanos , Masculino , Doenças do Sistema Nervoso/diagnóstico , Razão de Chances , Distribuição de Poisson , Estudos Prospectivos
16.
J Neurol ; 250(2): 216-21, 2003 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-12574954

RESUMO

Peripheral neuropathy is one of the clinical manifestations of the MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) syndrome, but its frequency and phenotypic variability have not been properly characterised. We therefore studied the clinical and electrophysiological features of peripheral neuropathy in 32 patients with the 3243A > G mutation in mitochondrial DNA by using clinical examination, assessment of Neuropathy Symptom Score, Neuropathy Disability Score, and electrophysiological examinations. Seven patients (22 %; 95 % confidence interval, 9-40 %) fulfilled the electrodiagnostic criteria for polyneuropathy. Mixed axon loss and demyelinating sensorimotor neuropathy was the most common type of polyneuropathy, while one patient presented with uniform demyelinating sensorimotor polyneuropathy. Sensory more than motor neuropathy was diagnosed in four patients. Clinically and electrophysiologically confirmed carpal tunnel syndrome (CTS) occurred in three patients (9.4 %), suggesting a higher prevalence than in the general population. Patients with neuropathy were in general more severely affected than those without neuropathy, although no correlation was found between the presence of neuropathy and the degree of mutant heteroplasmy in muscle. Higher age and male gender were associated with an increased risk of neuropathy. Our results show that peripheral neuropathy is not uncommon in patients with the 3243A > G mutation, and they also may have an increased risk of CTS.


Assuntos
DNA Mitocondrial/genética , Síndrome MELAS/genética , Mutação/genética , Doenças do Sistema Nervoso Periférico/genética , Potenciais de Ação/fisiologia , Idoso , Estudos de Coortes , Eletrodiagnóstico , Eletrofisiologia , Feminino , Finlândia , Frequência do Gene , Humanos , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/fisiopatologia , Condução Nervosa/fisiologia , Doenças do Sistema Nervoso Periférico/fisiopatologia , Fenótipo
17.
Early Hum Dev ; 70(1-2): 25-34, 2002 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-12441202

RESUMO

BACKGROUND: Brainstem auditory potential (BAEP) has been used to demonstrate brainstem damage and to provide prognosis for the outcome for newborn children. There are contradictory results of its power to predict problems in language development or problems at school. It is well known that preterm children experience an excess of these problems. AIM: To study if BAEP findings of 8-year-old preterm children differ from those of the full-term born control children and whether there is correlation to their linguistic problems or to the findings in magnetic resonance imaging (MRI). STUDY DESIGN: Population-based cohort study. SUBJECTS: Forty-two preterm children aged 8 years born with birth weight <1750 g and their matched full-term control children with birth weight >2500 g, 24 of whom had BAEP recordings and MRI. OUTCOME MEASURES: Differences in BAEPs between the preterm and the control children. Correlation of BAEPs with linguistic problems and with MRI findings. RESULTS: No differences were found in the absolute latencies nor in the interpeak intervals and in the I/V amplitude ratio. Nor did the results differ even when cerebral palsy disabled preterm children, preterm children with mild neurodevelopmental dysfunction or healthy preterm children were compared to each other or to the control children. No correlation to the linguistic problems or to the findings of periventricular leukomalacia (PVL) in MRI or to the different measurements of the brainstem were found. CONCLUSION: If hearing impairment does not exist, BAEP does not give further information on neurodevelopmental nor linguistic problems of the preterm children.


Assuntos
Potenciais Evocados Auditivos do Tronco Encefálico , Recém-Nascido Prematuro , Transtornos da Linguagem/epidemiologia , Imageamento por Ressonância Magnética , Desempenho Psicomotor/fisiologia , Encéfalo/patologia , Paralisia Cerebral , Criança , Estudos de Coortes , Finlândia/epidemiologia , Humanos , Recém-Nascido , Recém-Nascido Prematuro/fisiologia , Recém-Nascido Prematuro/psicologia , Desenvolvimento da Linguagem , Transtornos da Linguagem/diagnóstico , Testes de Linguagem , Psicolinguística
18.
Cancer ; 94(9): 2466-73, 2002 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-12015772

RESUMO

BACKGROUND: The objective of the current study was to determine whether therapy for childhood acute lymphoblastic leukemia (ALL) results in long-lasting neurologic signs or electrophysiologic injuries within the motor tracts. METHODS: Twenty-seven children who were treated for ALL were studied clinically 5 years after the cessation of therapy by means of motor-evoked potentials (MEPs) elicited by magnetic stimulation transcranially and peripherally. An equal number of healthy children matched with regard to age, gender, and height served as the control group. RESULTS: The MEP latencies to the hands and legs elicited by stimulation at the cortex were prolonged significantly in the children treated for ALL compared with the control group, with the differences being 2.2 milliseconds [ms] (P < 0.001) from the cortex to the thenar on the right side and 2.0 ms (P < 0.001) on the left, and 1.4 ms (P = 0.004) from the cortex to the leg on the right side and 1.3 ms (P = 0.004) on the left. Correspondingly, the MEP latency from the fifth lumbar vertebrae (LV) level to the leg also was prolonged, by 1.0 ms (P = 0.005) on the right side and 0.8 ms (P = 0.005) on the left side. The calculated latency between the cortex and the LV level was not found to be significantly longer in those patients treated for ALL compared with the healthy controls. Neurologic signs, in the form of depressed deep tendon reflexes, were observed in 8% of the patients, whereas approximately 33% of the patients were found to have fine or gross motor difficulties and dysdiadochokinesia. CONCLUSIONS: Neurologic signs still persisted 5 years after therapy for ALL. Approximately 33% of the patients had fine or gross motor difficulties and dysdiadochokinesia, and demyelinative injuries to the peripheral nerve tracts were found proximally but not within the central nervous system.


Assuntos
Doença dos Neurônios Motores/etiologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Adolescente , Adulto , Braço/inervação , Criança , Potencial Evocado Motor , Feminino , Seguimentos , Humanos , Perna (Membro)/inervação , Masculino , Doença dos Neurônios Motores/fisiopatologia , Fatores de Tempo
19.
Pediatrics ; 109(4): e55, 2002 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-11927728

RESUMO

OBJECTIVE: The pathophysiological mechanisms of growth impairment frequently associated with the obstructive sleep apnea syndrome (OSAS) in children are poorly defined. The main objective of this study was to evaluate whether nighttime upper airway obstruction attributable to adenotonsillar hypertrophy and subsequent surgical treatment affect the circulating concentrations of insulin-like growth factor-I (IGF-I) and IGF-binding protein 3 (IGFBP-3) along with other growth parameters in children. PATIENTS AND METHODS: We initially studied 70 children (mean age: 5.8 years; range: 2.4-10.5 years) admitted to a university hospital because of clinical symptoms of OSAS. Their sleep was monitored with a 6-channel computerized polygraph. Data on anthropometry and circulating concentrations of IGF-I and IGFBP-3 were generated and compared with corresponding characteristics in control children (N = 35). Thirty children with an obstructive apnea-hypopnea index (OAHI) of 1 or more were categorized as children with OSAS (mean OAHI: 5.4 [95% confidence interval for mean (CI): 3.8-6.9]), whereas 40 children with an OAHI of <1 were considered as primary snorers (PS) (mean OAHI 0.13 [95% CI: 0.05-0.21]). Nineteen children with OAHI >2 underwent adenotonsillectomy attributable to OSAS and were reassessed 6 months later together with 34 nonoperated children with OAHI <2. RESULTS: There were no initial differences in relative height and weight for height between the 3 groups of children. No differences were observed in peripheral IGF-I concentrations, but both OSAS and PS children had reduced peripheral IGFBP-3 levels. The operated children with initial OSAS experienced a highly significant reduction in their OAHI from 7.1 (95% CI: 5.1-9.1) to 0.37 (95% CI: 0.2-0.95). Weight-for-height, body mass index, body fat mass, and fat-free mass increased during the follow-up in the operated children with OSAS, whereas only fat-free mass and relative height increased in the PS children. Both the IGF-I and the IGFBP-3 concentrations increased significantly in the operated children, whereas no significant changes were seen in the PS children. CONCLUSIONS: These observations indicate that growth hormone secretion is impaired in children with OSAS and PS. Respiratory improvement after adenotonsillectomy in children with OSAS results in weight gain and restored growth hormone secretion.


Assuntos
Crescimento , Apneia Obstrutiva do Sono/fisiopatologia , Apneia Obstrutiva do Sono/cirurgia , Ronco/fisiopatologia , Adenoidectomia , Antropometria , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina/metabolismo , Fator de Crescimento Insulin-Like I/metabolismo , Masculino , Apneia Obstrutiva do Sono/complicações , Ronco/complicações , Tonsilectomia , Aumento de Peso
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