RESUMO
Several patients with beta-propeller protein-associated neurodegeneration (BPAN)/static encephalopathy with neurodegeneration in adulthood have been reported to present Rett syndrome (RTT)-like features. This report presents an individual with BPAN showing clinical features of RTT. Psychomotor delay and epilepsy onset were noted at 1 year, and regression began at 4 years. Screening of the methyl-CpG binding protein 2 (MECP2) did not show variants. At 22 years, basal ganglia iron deposits were found on magnetic resonance imaging (MRI), and the WD-domain repeat 45 gene (WDR45) variant was identified. Review of the literature showed that BPAN with RTT-like features is associated with more epileptic seizures and less deceleration of head growth, breathing irregularities, and cold extremities than classic RTT with MECP2 variants. These clinical presentations may provide clues for differentiating between these two disorders. However, both WDR45 and MECP2 should be screened in patients presenting a clinical picture of RTT without specific MRI findings of BPAN.
Assuntos
Encefalopatias/genética , Proteínas de Transporte/genética , Proteína 2 de Ligação a Metil-CpG/genética , Síndrome de Rett/genética , Adolescente , Adulto , Gânglios da Base/metabolismo , Gânglios da Base/patologia , Encefalopatias/complicações , Encefalopatias/diagnóstico por imagem , Encefalopatias/patologia , Criança , Pré-Escolar , Epilepsia Parcial Complexa/complicações , Epilepsia Parcial Complexa/diagnóstico por imagem , Epilepsia Parcial Complexa/genética , Epilepsia Parcial Complexa/patologia , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Recém-Nascido , Ferro , Distúrbios do Metabolismo do Ferro/complicações , Distúrbios do Metabolismo do Ferro/diagnóstico por imagem , Distúrbios do Metabolismo do Ferro/genética , Distúrbios do Metabolismo do Ferro/patologia , Imageamento por Ressonância Magnética , Síndrome de Rett/complicações , Síndrome de Rett/diagnóstico por imagem , Síndrome de Rett/patologia , Adulto JovemRESUMO
OBJECTIVE: We carried out a questionnaire survey to investigate the uses of melatonin and ramelteon in Japanese children. METHODS: We sent a questionnaire to councilors of the Japanese Society of Child Neurology by e-mail, and sent the same questionnaire to members of the Japanese Society of Pediatric Psychiatry and Neurology by postal mail. RESULTS: During the first phase of the survey, 220 responses were obtained, and 45% of the respondents prescribed melatonin. Imported supplements and chemical reagents were used by 64% and 29% of melatonin prescribers, respectively. Some prescribed melatonin without patient consent or institutional approval. In patients with pervasive developmental disorder, cerebral palsy, attention-deficit hyperactivity disorder, Rett syndrome, and visual disturbance, melatonin was prescribed by 37%, 29%, 10%, 6%, and 6% of the respondents, respectively. In terms of sleep disorders, melatonin was prescribed by 49% and 42% of respondents in patients with circadian rhythm disorders and insomnia, respectively. Ramelteon was prescribed by 52% of respondents. Regarding types of target diseases and sleep disorders, the use of ramelteon differed little from that of melatonin. In the second phase of the survey on the use of melatonin, 23 doctors prescribed the drug for 254 patients. The daily effective dose ranged from 0.2 mg to 8 mg in patients aged 2 months to 37 years. In more than 60% of the patients who took melatonin, PDD was diagnosed. In the patients with melatonin for insomnia, 90% and 25% had difficulty falling asleep and disorders in circadian rhythm, respectively. CONCLUSIONS: Both melatonin and ramelteon were widely prescribedin Japanese children. Melatonin tended to be used without sufficient ethical consideration in Japan, indicating the necessity of melatonin as medicine. Then, careful determination of an applicable dose are required in future studies.
Assuntos
Ritmo Circadiano/efeitos dos fármacos , Indenos/uso terapêutico , Melatonina/uso terapêutico , Distúrbios do Início e da Manutenção do Sono/tratamento farmacológico , Sono/efeitos dos fármacos , Adolescente , Adulto , Criança , Pré-Escolar , Coleta de Dados , Feminino , Humanos , Lactente , Japão , Masculino , Sono/fisiologia , Adulto JovemRESUMO
Acute encephalopathy with febrile convulsive status epilepticus (AEFCSE) is the most common type of acute encephalopathy in childhood in Japan, which develops with prolonged febrile convulsion, followed by mild unconsciousness. It is generally sporadic and nonrecurrent. In this report, a 1-year-old girl showed signs of AEFCSE triggered by respiratory syncytial virus infection. Two years later, she presented with AEFCSE triggered by influenza virus infection, resulting in severe neurologic sequelae. The patient had a thermolabile genotype of carnitine palmitoyltransferase II (CPT II) variations consisting of three single nucleotide polymorphisms in exons 4 [1055T > G/F352C and 1102G > A/V368I] and 5 [1939A > G/M647V]. The polymorphism has been identified as a genetic predisposition for acute encephalopathy. This report presents the first case of recurrent encephalopathy with CPT II variations that may partially associate with pathogenesis of recurrent AEFCSE.
Assuntos
Encefalopatias/genética , Carnitina O-Palmitoiltransferase/genética , Polimorfismo de Nucleotídeo Único/genética , Encefalopatias/complicações , Encefalopatias/diagnóstico , Eletroencefalografia , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Convulsões Febris/etiologia , Estado Epiléptico/etiologiaRESUMO
Congenital cytomegalovirus (CMV) infection occurs frequently in neonates. However, there are no screening tests or definitive treatments for this infection in Japan. We report a case of a 21-day-old Japanese boy with congenital CMV infection. He was referred to our hospital for treatment of congenital bilateral deafness. Brain magnetic resonance imaging (MRI) revealed cortical dysplasia of the temporal poles, enlarged ventricles, and areas of abnormal intensity in the white matter. He was given a diagnosis of congenital CMV infection based on the detection of CMV DNA in his urine and the umbilical cord. After the administration of valganciclovir, no CMV DNA was detected in his serum, and brain MRI and electroencephalogram findings, motor development, and deafness improved. Further investigation is needed to establish a screening test and treatment for congenital CMV infection in Japan.
Assuntos
Antivirais/administração & dosagem , Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/tratamento farmacológico , Ganciclovir/análogos & derivados , Anticorpos Antivirais/sangue , Biomarcadores/sangue , Biomarcadores/urina , Citomegalovirus/genética , Citomegalovirus/imunologia , Infecções por Citomegalovirus/diagnóstico , DNA Viral/urina , Eletroencefalografia , Ganciclovir/administração & dosagem , Humanos , Imunoglobulina M/sangue , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Resultado do Tratamento , ValganciclovirRESUMO
We report prolonged valganciclovir (VGCV) treatment of a symptomatic cytomegalovirus infection case. Automated auditory brainstem evoked response performed at 5 days of age revealed severe hearing impairment. Cranial magnetic resonance (MR) imaging at 11 days of age showed abnormal findings. At 5 weeks of age, VGCV was started. The viral load in blood cells, plasma, and urine decreased during the 6-week treatment. Because of improvement of hearing level and no adverse effects, VGCV was restarted for an additional 6 weeks. Neither the patient's hearing impairment nor results of cranial MR imaging have become worse in 6 months. It is crucial to gather information from as many cases as possible treated with VGCV to establish a standard protocol for VGCV treatment.
Assuntos
Antivirais/administração & dosagem , Infecções por Citomegalovirus/tratamento farmacológico , Ganciclovir/análogos & derivados , Doenças do Recém-Nascido/tratamento farmacológico , Encéfalo/diagnóstico por imagem , Citomegalovirus/genética , Citomegalovirus/isolamento & purificação , Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/diagnóstico por imagem , Infecções por Citomegalovirus/virologia , DNA Viral/sangue , DNA Viral/urina , Potenciais Evocados Auditivos do Tronco Encefálico , Ganciclovir/administração & dosagem , Perda Auditiva/virologia , Humanos , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico por imagem , Doenças do Recém-Nascido/virologia , Imageamento por Ressonância Magnética , Masculino , Radiografia , Valganciclovir , Carga ViralRESUMO
BACKGROUND: Neuromuscular disorders can be the cause of sudden death of infants because of their weakness and gastroesophageal reflux (GER). METHODS: Muscle biopsy and genetic studies were performed by usual method. RESULTS: In this report four cases of infants with neuromuscular disorders (two cases of congenital myopathy and two cases of spinal muscular atrophy) who had unexpected cardiopulmonary arrest on arrival (CPAOA) are presented. Two of the cases did not show any symptoms, such as muscle weakness prior to CPAOA. The diagnosis was based on the results of the muscle biopsy and genetic examination. CONCLUSION: These results suggest that sudden infant death caused by neuromuscular disorders should be considered.
Assuntos
Parada Cardíaca/etiologia , Doenças Musculares/complicações , Atrofias Musculares Espinais da Infância/complicações , Morte Súbita do Lactente/etiologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Miopatias da Nemalina/complicações , Miopatias Congênitas EstruturaisRESUMO
Cerebral perfusion and its relation with systemic circulation in extremely LBW (ELBW) infants in the early neonatal period are not well understood. The cerebral tissue oxygenation index (TOI) and cerebral fractional tissue oxygen extraction (FTOE) were monitored in stable 16 ELBW infants (GA <29 wk) using near-infrared spectroscopy (NIRS) at 3-6, 12, 18, 24, 36, 48, and 72 h after birth. The left ventricular end-systolic wall stress (ESWS), left ventricular ejection fraction (LVEF), left ventricular cardiac output (LVCO), and superior vena cava (SVC) flow were also measured simultaneously using echocardiography. The ESWS increased till 18 h and then decreased; LVEF, LVCO, and SVC flow decreased till 12 h and increased thereafter. The TOI decreased till 12 h and correlated with SVC flow; FTOE increased until 12 h and then decreased. These changes in variables of NIRS and echocardiographic measurements contrasted to changes in mean arterial blood pressure (MABP), which showed trends of continuous and gradual increase after birth. We conclude that even stable ELBW infants undergo evident transitional changes in cerebral oxygenation and perfusion in the early postnatal period, which may reflect changes in cardiac function and cardiac output.
Assuntos
Circulação Cerebrovascular/fisiologia , Recém-Nascido de Peso Extremamente Baixo ao Nascer/fisiologia , Fluxo Sanguíneo Regional/fisiologia , Ecocardiografia , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Oxigênio/sangue , Consumo de Oxigênio/fisiologia , Espectroscopia de Luz Próxima ao Infravermelho/métodosRESUMO
AIMS: As an extension of a phase 2/3 study evaluating the efficacy and safety of lisdexamfetamine dimesylate (LDX) 30, 50, or 70 mg/d for 4 weeks in Japanese patients aged 6-17 years with attention-deficit/hyperactivity disorder (ADHD), this study evaluated its long-term safety and efficacy. METHODS: This was a multicenter, open-label study of LDX for 53 weeks. Safety was assessed by regular medical examination for treatment-emergent adverse events (TEAEs); regular recording of body weight, vital signs, and laboratory test values; and completion of dependence questionnaires. Efficacy was assessed using Japanese versions of the ADHD-Rating Scale-IV (ADHD-RS-IV) and Conners' 3rd edition Parent Rating Scale (Conners 3); plus Clinical Global Impression-Improvement (CGI-I), Clinical Global Impression-Severity, and Parent Global Assessment (PGA) scales. RESULTS: Of 132 enrolled patients, 104 completed the trial. Most frequent treatment-related TEAEs were decreased appetite (73.5%), initial insomnia (39.4%), and weight decrease (22.0%). Most TEAEs were mild (82.6% of patients). There were no serious or severe TEAEs or deaths. No treatment-related TEAEs were associated with blood pressure or pulse rate, and no patient had a QTcF interval >500 ms. Statistically significant improvement from baseline to week 53 was observed in the mean ADHD-Rating Scale-IV total score and mean Conners 3 subscale scores. Most patients showed improvement on the CGI-I (78%) and PGA (76.5%) scales. CONCLUSIONS: No significant safety issues were observed with LDX 30, 50, or 70 mg/d administered for 1 year in Japanese children and adolescents with ADHD. LDX was associated with long-term reductions in ADHD symptoms and severity.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Estimulantes do Sistema Nervoso Central/farmacologia , Dimesilato de Lisdexanfetamina/farmacologia , Avaliação de Resultados em Cuidados de Saúde , Adolescente , Estimulantes do Sistema Nervoso Central/administração & dosagem , Estimulantes do Sistema Nervoso Central/efeitos adversos , Criança , Humanos , Japão , Dimesilato de Lisdexanfetamina/administração & dosagem , Dimesilato de Lisdexanfetamina/efeitos adversos , Estudos LongitudinaisRESUMO
Objective: To further define the efficacy and safety profiles of lisdexamfetamine dimesylate (LDX) in Japanese pediatric patients with attention-deficit/hyperactivity disorder (ADHD). Methods: This was a multicenter, randomized, double-blind, placebo-controlled study of LDX 30, 50, or 70 mg/day for 4 weeks in 76 patients 6-17 years of age with ADHD in Japan. The primary efficacy endpoint was the change in the ADHD Rating Scale-IV (ADHD-RS-IV) total score from baseline to 4 weeks. Secondary efficacy endpoints were: Conners' Third Edition (Japanese version) Parent Rating Scale (Conners 3), Clinical Global Impression-Improvement (CGI-I) scale, and Parent Global Assessment (PGA) scale. Results: Change in the ADHD-RS-IV total score from baseline to 4 weeks was significantly greater (p < 0.0001) in all LDX dosage groups versus placebo (30 mg, -16.38; 50 mg, -18.10; 70 mg, -16.47; placebo, -2.78). At all time points, improvements (decreases) in the ADHD-RS-IV total score were significantly greater in all LDX groups versus placebo. At weeks 3 and 4, improvements from baseline in Conners 3 inattention plus hyperactivity/impulsivity subscale scores were significantly greater (p ≤ 0.0082) for all LDX dosages versus placebo. At week 4, the proportion of LDX-treated patients "much improved" or "very much improved" was 61%-71% on the CGI-I scale (p ≤ 0.0019) and 56%-65% on the PGA scale (p ≤ 0.0170). LDX was generally well tolerated. The most frequent treatment-emergent adverse events (AEs) were decreased appetite, headache, and initial insomnia. No severe/serious AEs occurred, and no AEs specific to Japanese patients were evident. Conclusions: The superiority of LDX 30, 50, and 70 mg/day over placebo was confirmed in Japanese pediatric patients with ADHD, and no major safety or tolerability concerns were identified.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Dimesilato de Lisdexanfetamina/efeitos adversos , Dimesilato de Lisdexanfetamina/uso terapêutico , Adolescente , Estimulantes do Sistema Nervoso Central/efeitos adversos , Estimulantes do Sistema Nervoso Central/uso terapêutico , Criança , Relação Dose-Resposta a Droga , Método Duplo-Cego , Feminino , Humanos , Japão , MasculinoRESUMO
Objective: To establish valid, objective biomarkers for ADHD using machine learning. Method: Machine learning was used to predict disorder severity from new brain function data, using a support vector machine (SVM). A multicenter approach was used to collect data for machine learning training, including behavioral and physiological indicators, age, and reverse Stroop task (RST) data from 108 children with ADHD and 108 typically developing (TD) children. Near-infrared spectroscopy (NIRS) was used to quantify change in prefrontal cortex oxygenated hemoglobin during RST. Verification data were from 62 children with ADHD and 37 TD children from six facilities in Japan. Results: The SVM general performance results showed sensitivity of 88.71%, specificity of 83.78%, and an overall discrimination rate of 86.25%. Conclusion: A SVM using an objective index from RST may be useful as an auxiliary biomarker for diagnosis for children with ADHD.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Criança , Humanos , Japão , Aprendizado de Máquina , Córtex Pré-Frontal , Espectroscopia de Luz Próxima ao InfravermelhoRESUMO
BACKGROUND: The neural correlates of executive function disorders are thought to be predominantly localized within the prefrontal cortex (PFC). However, no study to date has investigated changes in this system across different age groups in children with attention deficit hyperactivity disorder (ADHD). Thus, this study aimed to explore changes in PFC function in children with ADHD. METHODS: Study participants included typically developing (TD) children (nâ¯=â¯140) and children with ADHD (nâ¯=â¯67) of primary school age. Behavioral executive functions and their neural basis were evaluated between the TD children and children with ADHD and also across different age periods (younger and older children). To examine executive function, inhibitory control was assessed using the reverse Stroop task, and PFC near-infrared spectroscopic measurements were used to investigate the neural mechanisms involved. RESULTS: Both ADHD symptoms and the ability to inhibit color interference improved with age. Compared to TD children, children with ADHD demonstrated decreased activation of the right and middle PFC across all age groups. Interestingly, the left PFC appeared to play a compensatory role. CONCLUSION: Children with ADHD exhibited changes in PFC function that varied with age. Longitudinal studies are required to assess the potential of using PFC function as an early biomarker of ADHD.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Lobo Frontal/fisiopatologia , Fatores Etários , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico por imagem , Transtorno do Deficit de Atenção com Hiperatividade/metabolismo , Mapeamento Encefálico/métodos , Criança , Função Executiva/fisiologia , Feminino , Lobo Frontal/diagnóstico por imagem , Humanos , Processamento de Imagem Assistida por Computador/métodos , Imageamento por Ressonância Magnética/métodos , Masculino , Córtex Pré-Frontal/diagnóstico por imagem , Córtex Pré-Frontal/fisiopatologia , Espectroscopia de Luz Próxima ao Infravermelho/métodosRESUMO
This study assessed the validity of cerebrospinal fluid oxidative status of pediatric patients with central nervous system diseases, using the Diacron-Reactive Oxygen Metabolites test (d-Roms; Diacron International s.r.l.; Grosseto, Italy). Eighty-seven pediatric patients (8 with bacterial meningitis, 18 with aseptic meningitis, 23 with febrile seizures, 6 with rotavirus gastroenteritis-induced convulsions, 16 with epilepsy, 2 with adrenoleukodystrophy, 2 with multiple sclerosis, and 12 control subjects) were enrolled. An analysis of the infection-associated group (bacterial meningitis, aseptic meningitis, febrile seizures, and rotavirus gastroenteritis-induced convulsions) indicated that cerebrospinal fluid Diacron-Reactive Oxygen Metabolite levels in the bacterial meningitis group were significantly higher than in other infection-associated groups. In the bacterial meningitis group, the cerebrospinal fluid Diacron-Reactive Oxygen Metabolite levels obtained after improvement were significantly decreased compared with pre-improvement values. In the noninfection-associated group (epilepsy, adrenoleukodystrophy, and multiple sclerosis), the cerebrospinal fluid Diacron-Reactive Oxygen Metabolite levels in symptomatic epilepsy patients were higher than in cryptogenic epilepsy patients and control subjects, but not significantly. Progressive patients with adrenoleukodystrophy or multiple sclerosis demonstrated high Diacron-Reactive Oxygen Metabolite levels compared with another early-stage adrenoleukodystrophy patient. Oxidative stress may be associated with the pathogenesis of various pediatric central nervous system diseases. Cerebrospinal fluid Diacron-Reactive Oxygen Metabolite levels may correlate with clinical status in these diseases.
Assuntos
Doenças do Sistema Nervoso Central/líquido cefalorraquidiano , Radicais Livres/líquido cefalorraquidiano , Pediatria , Espécies Reativas de Oxigênio/líquido cefalorraquidiano , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças do Sistema Nervoso Central/classificação , Doenças do Sistema Nervoso Central/terapia , Criança , Pré-Escolar , Feminino , Radicais Livres/sangue , Humanos , Lactente , Masculino , Meningite Asséptica/líquido cefalorraquidiano , Meningite Asséptica/complicações , Meningites Bacterianas/líquido cefalorraquidiano , Meningites Bacterianas/complicações , Pessoa de Meia-Idade , Espécies Reativas de Oxigênio/sangue , Estatísticas não ParamétricasAssuntos
Ácidos Graxos/líquido cefalorraquidiano , Deficiência Intelectual/líquido cefalorraquidiano , Distrofia Muscular de Duchenne/líquido cefalorraquidiano , Aberrações Cromossômicas , Humanos , Lactente , Deficiência Intelectual/complicações , Masculino , Distrofia Muscular de Duchenne/complicações , Distrofia Muscular de Duchenne/genéticaRESUMO
The aim of this study was to assess the validity of serum and CSF oxidative status of patients with IE in their initial stage through the d-ROM (Diacron-Reactive Oxygen Metabolites, Italy) test, compared to those with other neurological diseases. The study was conducted on the following four groups: (1) influenza virus-associated encephalopathy (IE, n = 8), including four patients showing neurological sequelae or mortal; (2) influenza virus-associated febrile seizures (IFS, n = 11); (3) febrile convulsion (FC, n = 10): (4) enterovirus-associated encephalopathy (EE, n = 4), including one patient with neurological sequelae. The CSF d-ROM levels in the IE group were significantly higher than those in the IFS and the FC groups but not in the EE group. In addition, general laboratory findings such as leukocytes, platelets, C-reactive protein, aspartate aminotransferase, creatinine, creatinine kinase and LDH, including interleukin-6 (IL-6), were analyzed in each group. The CSF d-ROM levels in the IE group were significantly higher than those in the IFS and FC groups but not in the EE group. As for the serum d-ROM levels and general laboratory findings, with the exception of CSF IL-6 levels in IE, no significant differences were detected compared with the other groups. In patients with IE, the CSF d-ROM levels could be a valid predictive biomarker of the severity, and oxidative stress may be related to the pathogenesis of IE.
Assuntos
Encefalite Viral/líquido cefalorraquidiano , Encefalite Viral/diagnóstico , Radicais Livres/líquido cefalorraquidiano , Influenza Humana/complicações , Orthomyxoviridae/imunologia , Espécies Reativas de Oxigênio/líquido cefalorraquidiano , Biomarcadores/sangue , Biomarcadores/líquido cefalorraquidiano , Criança , Pré-Escolar , Diagnóstico Diferencial , Encefalite Viral/sangue , Feminino , Radicais Livres/sangue , Humanos , Interleucina-6/sangue , Contagem de Leucócitos , Masculino , Estresse Oxidativo/fisiologia , Contagem de Plaquetas , Valor Preditivo dos Testes , Espécies Reativas de Oxigênio/sangueRESUMO
We used a three-dimensional video motion analysis system to evaluate techniques for inducing the Collis horizontal reaction in 46 infants (total 217 times) from 1-9 months old. Additionally, we examined the safety of different techniques for inducing the Collis horizontal reaction in 20 infants (total 66 times), from 1-3 months old, 40 times by holding the shoulder joint and 26 times by not holding the shoulder joint. Regardless of who performed the examination, the average height that induced the reaction increased from 24.3 to 34.6 cm and the average speed of reaction increased from 28.2 to 43.4 m/s as the age of the infants increased. Additionally, when the Collis horizontal reaction was induced in infants 1-3 months old by holding the shoulder joint of infants, the average fall angle of the head was 7.291 degrees and was not significantly larger than when the reaction was induced by not holding the shoulder joint, which resulted is an average fall angle of the head was 19.302 degrees. However, although the average speed to support the body increased, the fall angle of the head did not increase when the shoulder joint was held. The Collis horizontal reaction is usually not performed in early infancy before head control is acquired, because of the burden to neck caused by the fall of the head and the excess expansion of shoulder joint capsule. However these results suggest that when performing the Collis horizontal reaction in early infancy before head control is acquired, the Collis horizontal reaction can be safely performed by holding the shoulder joint, regardless of the skill of the diagnostician. Therefore, the Collis horizontal reaction is an excellent method to assess infant development, and can be performed at the usual infant health examinations.
Assuntos
Desenvolvimento Infantil/fisiologia , Destreza Motora/fisiologia , Movimento/fisiologia , Exame Físico/métodos , Tempo de Reação/fisiologia , Humanos , Lactente , PosturaRESUMO
At four months old, infants of 72% challenged with the Collis horizontal reaction touch the floor with the back of their free hand. As the infants grow older, the ratio of infants that open their free hand and perform a support reaction increases from 0% to 100%. At nine months old, all infants perform this support reaction with their free hand palm-side down. To assess infant development more accurately, we used a three-dimensional video motion analysis system to evaluate upper limb movement in 38 infants (total 151 times) from 4-9 months old during the second and third phases determined by the Collis horizontal reaction. By analyzing the constituent components of upper limb movement during the Collis horizontal reaction, we assessed the usefulness of the reactions as an objective tool to measure developmental changes in infants. During the analysis, we thought to assess the speed of the upper limb reaction was respect to pronating the forearm, supporting the body with the palm down, and location of their free hand. The analysis shows that if development progresses normally and infants pronate the forearm to support the body with the palm down, the central value at which their free hand is located moves to a point under the shoulder. The results suggest that in infants four to nine months old, the Collis horizontal reaction is an excellent method to assess not only the present physical development level, but also future physical development attainment by only evaluating developmental changes of upper limb movement only.
Assuntos
Desenvolvimento Infantil/fisiologia , Movimento/fisiologia , Exame Físico/métodos , Tempo de Reação/fisiologia , Extremidade Superior/fisiologia , Humanos , Lactente , Destreza Motora/fisiologia , PosturaRESUMO
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive weakness and wasting of facial, shoulder-girdle and upper arm muscles. Despite of the characteristic clinical features, the diagnosis of FSHD is sometimes difficult because clinical symptoms are extremely variable including facial sparing type, limb-girdle type, and distal myopathy type. Most of the FSHD patients have a deletion in the subtelomeric region of chromosome 4q35 (FSHMD1A), however the linkage analysis in some families suggested genetic heterogeneity. In the present study, we identified 40 patients without a deletion in the 4q35 region (non-4q35del) among 200 Japanese patients who were clinically suspected to have FHSD. All non-4q35del patients had shoulder-girdle weakness and 75% also had facial weakness. Eight patients showed clinical features that were indistinguishable from FSHD, but two of them had Becker muscular dystrophy. FSHD is clinically, and most likely genetically, as well, variable. Other forms of muscular dystrophy can also mimic FSHD.
Assuntos
Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/patologia , Distrofia Muscular Facioescapuloumeral/genética , Distrofia Muscular Facioescapuloumeral/patologia , Adolescente , Adulto , Biópsia , Cromossomos Humanos Par 4 , Diagnóstico Diferencial , Distrofina/genética , Fácies , Feminino , Deleção de Genes , Humanos , Japão , Masculino , Pessoa de Meia-IdadeRESUMO
An 8-month-male infant was admitted to our institute in order to investigate his developmental delay. He had facial features-long palpebral fissures with eversion of the lower lateral eyelids, arched eyebrows with lateral sparseness, depressed nasal tip, large, prominent and cupped ears. From these characteristical features, he was diagnosed as having Kabuki make-up syndrome (KS). When he was 2 months old, he was admitted to our institute because of intractable stridor and liver dysfunction associated with cytomegalovirus (CMV) infection. In KS, increased susceptibility to infection is described. We suspected persistent CMV infection because of an increased susceptibility to infection in KS. Recently acute idiopathic thrombocytopenic purpura (ITP) was diagnosed. According to the correlation between the number of CMV DNA copies and his platelet count, it is speculated that ITP would occur when the number of CMV DNA copies was elevated.
Assuntos
Anormalidades Múltiplas , Infecções por Citomegalovirus/diagnóstico , Diagnóstico Diferencial , Face/anormalidades , Transtornos do Crescimento/diagnóstico , Humanos , Lactente , Masculino , SíndromeRESUMO
We investigated (1) whether cerebral hypothermia during kainic acid (KA)-induced seizures was neuroprotective; and (2) whether nitric oxide (NO) production in the brain during seizures was altered by cerebral hypothermia in immature rabbits. Twelve female rabbits, aged 2 weeks, were anesthetized, paralyzed and mechanically ventilated. We continuously measured NO production in the brain by NO-selective electrode, cortical electroencephalogram (EEG), regional cerebral blood flow (rCBF) by laser Doppler flowmetry, rectal and cerebral temperatures and mean arterial blood pressure (MABP) during KA (12 mg/kg, i.v.)-induced seizures in the hypothermic group (n = 6; rectal temperature, 33 degrees C), and in the normothermic group (n = 6; rectal temperature, 37 degrees C). The normothermic group showed a gradual increase in NO generation in the brain, which was significantly inhibited in the hypothermic group. There were no significant differences in the increases in rCBF, MABP, arterial blood gases, blood glucose, or EEG abnormalities between the two groups. Neuronal damages in the hippocampus (CA3) were significantly lower in hypothermia than in normothermia. These results suggest that hypothermia attenuates NO production during drug-induced seizures and decreases hippocampal brain lesions in the immature rabbit brain. These results may help to explain the neuroprotective effects of hypothermia.