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1.
J Inherit Metab Dis ; 2020 Jan 22.
Artículo en Inglés | MEDLINE | ID: mdl-31967322

RESUMEN

Leigh syndrome is a major phenotype of mitochondrial diseases in children. With new therapeutic options being proposed, assessing the mortality and clinical condition of Leigh syndrome patients is crucial for evaluating therapeutics. As data are scarce in Japan, we analysed the mortality rate and clinical condition of Japanese Leigh syndrome patients that we diagnosed since 2007. Data from 166 Japanese patients diagnosed with Leigh syndrome from 2007 to 2017 were reviewed. Patients' present status, method of ventilation and feeding, and degree of disability as of April 2018 was analysed. Overall, 124 (74.7%) were living, 40 (24.1%) were deceased, and 2 (1.2%) were lost to follow-up. Median age of living patients was 8 years (1-39 years). Median length of disease course was 91 months for living patients and 23.5 months for deceased patients. Nearly 90% of deaths occurred by age 6. Mortality rate of patients with onset before 6 months of age was significantly higher than that of onset after 6 months. All patients with neonatal onset were either deceased or bedridden. MT-ATP6 deficiency caused by m.8993T>G mutation and MT-ND5 deficiency induced a severe form of Leigh syndrome. Patients with NDUFAF6, ECHS1, and SURF1 deficiency had relatively mild symptoms and better survival. The impact of onset age on prognosis varied across the genetic diagnoses. The clinical condition of many patients was poor; however, few did not require mechanical ventilation or tube-feeding and were not physically dependent. Early disease onset and genetic diagnosis may have prognostic value.

2.
Adv Exp Med Biol ; 1232: 77-83, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31893397

RESUMEN

Instantaneous orthostatic hypotension (INOH) is one of the main types of orthostatic dysregulation in children and adolescents. In patients with INOH arterial pressure drops considerably after active standing and is slow to recover. We investigated changes in cerebral oxygenation in the bilateral prefrontal cortex during an active standing test in juvenile INOH patients to evaluate changes in cerebral oxygen metabolism. We enrolled 82 INOH patients (mean age 13.8 ± 2.2 years, 52 mild and 30 severe patients) at Nihon University Itabashi Hospital from October 2013 to April 2018. We measured cerebral oxygenated hemoglobin, deoxygenated hemoglobin, and total hemoglobin levels in the bilateral prefrontal cortex using near-infrared spectroscopy during an active standing test. In severe INOH patients, cerebral oxygenation of the right prefrontal cortex remained constant when blood pressure dropped; however, de-oxy-Hb significantly increased. These findings confirm that there is asymmetrical autoregulation between the right and left prefrontal cortex.


Asunto(s)
Circulación Cerebrovascular , Hipotensión Ortostática , Adolescente , Circulación Cerebrovascular/fisiología , Niño , Homeostasis , Humanos , Hipotensión Ortostática/fisiopatología , Oxihemoglobinas , Espectroscopía Infrarroja Corta
3.
J Pediatr Endocrinol Metab ; 32(12): 1391-1394, 2019 Dec 18.
Artículo en Inglés | MEDLINE | ID: mdl-31472068

RESUMEN

Background Diabetic ketoacidosis (DKA) is a common complication of type 1 diabetes mellitus (T1DM). Infants and children with new-onset T1DM may present with DKA, and the risk of cerebral edema is high in infantile DKA. What is new? Neurological deterioration during an episode of DKA is usually attributed to cerebral edema and cerebrovascular accidents. However, cerebral infarction is a very rare complication in infantile DKA. Case presentation We describe a rare case of infantile cerebral infarction caused by severe DKA in a patient with new-onset T1DM. Conclusions Cerebral infarction is an important intracranial complication in infantile DKA. Careful observation and treatment for DKA during the first 24 h of therapy are necessary in infants with new-onset T1DM because the risk of cerebral infarction is highest during this timeframe.

4.
J Infect Chemother ; 25(11): 913-916, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31189503

RESUMEN

Rotavirus infection is a major cause of gastroenteritis, which occurs mainly in children. Liver dysfunction due to rotavirus gastroenteritis has been reported; however, acute hepatitis due to this disease is very rare. We present a rare case in which rotavirus gastroenteritis led to sequential diagnosis of acute hepatitis and systemic primary carnitine deficiency (CDSP) in a 1-year-old girl. The patient's symptoms (hypoglycemia, hepatomegaly, and elevated levels of serum transaminases and creatinine kinase) suggested a steatosis causing liver dysfunction. She was initially considered to have a beta oxygenation defect or secondary carnitine deficiency caused by pivalic acid-containing antibiotics; however, repetitive carnitine analysis and free carnitine clearance measurement confirmed primary carnitine deficiency (carnitine transporter deficiency). Children with severe liver dysfunction due to rotavirus infection and presenting with liver steatosis should undergo blood acyl carnitine analysis to detect potential carnitine or other beta oxidation deficiencies, especially if newborn screening for these diseases is not available.


Asunto(s)
Cardiomiopatías/etiología , Carnitina/deficiencia , Gastroenteritis/complicaciones , Gastroenteritis/etiología , Hepatitis/etiología , Hiperamonemia/etiología , Enfermedades Musculares/etiología , Infecciones por Rotavirus/complicaciones , Enfermedad Aguda , Cardiomiopatías/virología , Femenino , Gastroenteritis/virología , Hepatitis/virología , Humanos , Hiperamonemia/virología , Lactante , Enfermedades Musculares/virología , Rotavirus/patogenicidad
5.
Brain Dev ; 41(6): 559-562, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-30772096

RESUMEN

BACKGROUND: Confusional migraine is a rare type of migraine presenting as an acute confusional state. However, the mechanism of this confusional state remains unclear. SUBJECT AND METHODS: We examined an 11-year-old girl with confusional migraine, using electroencephalography, brain magnetic resonance imaging, cerebrovascular magnetic resonance angiography, and single-photon emission computed tomography to investigate cerebral blood flow changes. RESULTS: Our findings revealed vessel narrowing in the left middle and posterior cerebral artery territory, indicating vasospasm and suggesting that the confusion was caused by hypoperfusion. However, abnormal increased cerebral blood flow in the left middle and posterior cerebral artery territory was observed during the non-confusional state. CONCLUSION: The recorded cerebral blood flow changes are similar to those associated with migraine attacks, gradually changing from abnormally low to abnormally high during the confusional and post-confusional state.


Asunto(s)
Circulación Cerebrovascular/fisiología , Trastornos Migrañosos/fisiopatología , Niño , Confusión/fisiopatología , Electroencefalografía/métodos , Femenino , Humanos , Angiografía por Resonancia Magnética/métodos , Imagen por Resonancia Magnética/métodos , Trastornos Migrañosos/sangre , Trastornos Migrañosos/complicaciones , Tomografía Computarizada de Emisión de Fotón Único/métodos
6.
Tohoku J Exp Med ; 244(4): 279-282, 2018 04.
Artículo en Inglés | MEDLINE | ID: mdl-29628457

RESUMEN

Carnitine is a water-soluble amino acid derivative required for ß-oxidation of long-chain fatty acids. In carnitine cycle abnormalities and low carnitine states, fatty acid ß-oxidation is inhibited during fasting, resulting in hypoglycemia. Pivalic acid is a substance used in prodrugs to increase absorption of parent drugs, and antibiotics containing pivalic acid are frequently used as wide spectrum antibiotics for pediatric patients in Japan. Pivalic acid released after absorption is conjugated with free carnitine to form pivaloylcarnitine, which is then excreted in urine. As a consequence, long-term administration of pivalic acid containing antibiotics has been associated with depletion of free carnitine, inhibition of energy production and subsequent hypoglycemia. Here we report a case of a 23-month-old boy treated with an antibiotic containing pivalic acid for 3 days for upper respiratory tract infection. Laboratory data at referral indicated hypoglycemia, decreased free carnitine and elevated five-carbon acylcarnitine. Isomer separation confirmed the major component of increased five-carbon acylcarnitine to be pivaloylcarnitine, thereby excluding the possibility of a genetic metabolic disorder detected with similar acylcarnitine profile. The level of carnitine was normal when the antibiotic was not administered. Our case shows that the use of antibiotics containing pivalic acid in young children requires consideration of hypocarnitinemia, even with short-term administration.


Asunto(s)
Antibacterianos/efectos adversos , Carnitina/sangre , Carnitina/orina , Enfermedades Metabólicas/inducido químicamente , Enfermedades Metabólicas/diagnóstico , Ácidos Pentanoicos/efectos adversos , Carbono/química , Carnitina/análogos & derivados , Humanos , Hipoglucemia/diagnóstico , Lactante , Masculino , Oxígeno/química , Espectrometría de Masas en Tándem
7.
Brain Dev ; 40(7): 592-595, 2018 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-29606344

RESUMEN

BACKGROUND: Neurological manifestations caused by hypoglycemia range from reversible focal deficits and transient encephalopathy to irreversible coma or death. Recently, high signal intensity lesions in the splenium of the corpus callosum on diffusion-weighted magnetic resonance imaging were reported in adults experiencing hypoglycemia. However, patients presenting with agraphia are rare. SUBJECT AND METHODS: We examined a 17-year-old left-handed female patient with type 1 diabetes who exhibited transient left agraphia with a reversible splenium lesion of the corpus callosum on diffusion-weighted imaging caused by hypoglycemia, which was improved with blood glucose management alone. CONCLUSION: This rare case indicates that agraphia, a sign of callosal disconnection syndrome, can result from a reversible splenial lesion of the corpus callosum caused by hypoglycemia.


Asunto(s)
Agrafia/diagnóstico por imagen , Agrafia/etiología , Cuerpo Calloso/diagnóstico por imagen , Hipoglucemia/complicaciones , Hipoglucemia/diagnóstico por imagen , Adolescente , Agrafia/fisiopatología , Agrafia/terapia , Cuerpo Calloso/fisiopatología , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/diagnóstico por imagen , Diabetes Mellitus Tipo 1/fisiopatología , Diabetes Mellitus Tipo 1/terapia , Imagen de Difusión por Resonancia Magnética , Femenino , Humanos , Hipoglucemia/fisiopatología , Hipoglucemia/terapia
9.
Pediatr Transplant ; 21(5)2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-28612395

RESUMEN

Classical MSUD is often fatal without appropriate medical interventions because of metabolic crisis. There are numerous reports suggesting the therapeutic potential of deceased donor liver transplantation for MSUD. However, the usefulness of LDLT for MSUD is unknown. We report a case of classical MSUD, which was successfully managed by LDLT from the patient's father at 1 year of age. Abnormal brain findings, which were cured with effective treatment, gradually disappeared after LDLT. The patient then developed normally. Findings from this case suggest the importance of LDLT for maintaining low leucine levels and subsequent normal neurological development. Although LDLT involves a modest surgical insult, LDLT with a related donor achieves acceptable leucine levels for life.


Asunto(s)
Trasplante de Hígado/métodos , Donadores Vivos , Enfermedad de la Orina de Jarabe de Arce/diagnóstico por imagen , Enfermedad de la Orina de Jarabe de Arce/cirugía , Preescolar , Femenino , Humanos , Imagen por Resonancia Magnética
10.
J Inherit Metab Dis ; 40(5): 685-693, 2017 09.
Artículo en Inglés | MEDLINE | ID: mdl-28429146

RESUMEN

Leigh syndrome (LS) is a progressive neurodegenerative disorder of infancy and early childhood. It is clinically diagnosed by typical manifestations and characteristic computed tomography (CT) or magnetic resonance imaging (MRI) studies. Unravelling mitochondrial respiratory chain (MRC) dysfunction behind LS is essential for deeper understanding of the disease, which may lead to the development of new therapies and cure. The aim of this study was to evaluate the clinical validity of various diagnostic tools in confirming MRC disorder in LS and Leigh-like syndrome (LL). The results of enzyme assays, molecular analysis, and cellular oxygen consumption rate (OCR) measurements were examined. Of 106 patients, 41 were biochemically and genetically verified, and 34 had reduced MRC activity but no causative mutations. Seven patients with normal MRC complex activities had mutations in the MT-ATP6 gene. Five further patients with normal activity in MRC were identified with causative mutations. Conversely, 12 out of 60 enzyme assays performed for genetically verified patients returned normal results. No biochemical or genetic background was confirmed for 19 patients. OCR was reduced in ten out of 19 patients with negative enzyme assay results. Inconsistent enzyme assay results between fibroblast and skeletal muscle biopsy samples were observed in 33% of 37 simultaneously analyzed cases. These data suggest that highest diagnostic rate is reached using a combined enzymatic and genetic approach, analyzing more than one type of biological materials where suitable. Microscale oxygraphy detected MRC impairment in 50% cases with no defect in MRC complex activities.


Asunto(s)
Enfermedad de Leigh/diagnóstico , Adolescente , Adulto , Grupo de Ascendencia Continental Asiática , Niño , Transporte de Electrón/genética , Femenino , Fibroblastos/fisiología , Humanos , Enfermedad de Leigh/genética , Masculino , Mitocondrias/genética , ATPasas de Translocación de Protón Mitocondriales/genética , Músculo Esquelético/fisiología , Mutación/genética , Consumo de Oxígeno/genética , Adulto Joven
11.
Pediatr Emerg Care ; 33(6): 418-421, 2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27228148

RESUMEN

Acute focal bacterial nephritis (AFBN) is a localized bacterial infection of the kidney presenting as an inflammatory mass without frank abscess formation. In children, most patients with AFBN present with nonspecific conditions, such as fever, vomiting, and abdominal pain. A small number of reported cases are accompanied by neurological symptoms, including meningeal irritation, unconsciousness, and seizures. We experienced 2 rare cases of AFBN associated with central nervous system lesions. The first case was a 3-year-old girl who had neurological symptoms, including unconsciousness and seizures, with AFBN associated with acute reversible encephalopathy. The second case was a 5-year-old girl who had neurological symptoms, including unconsciousness, with AFBN accompanied by clinically mild encephalitis/encephalopathy with a reversible splenial lesion.


Asunto(s)
Infecciones Bacterianas/complicaciones , Encefalopatías/complicaciones , Sistema Nervioso Central/patología , Encefalitis/complicaciones , Nefritis/microbiología , Antibacterianos/uso terapéutico , Infecciones Bacterianas/tratamiento farmacológico , Encefalopatías/tratamiento farmacológico , Sistema Nervioso Central/diagnóstico por imagen , Líquido Cefalorraquídeo/química , Líquido Cefalorraquídeo/citología , Preescolar , Imagen de Difusión por Resonancia Magnética/métodos , Femenino , Humanos , Nefritis/diagnóstico , Tomografía Computarizada por Rayos X/métodos , Resultado del Tratamiento
12.
Pediatr Neurosurg ; 52(1): 46-50, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-27721316

RESUMEN

Glutaric acidemia type 1 is a rare autosomal recessive disease caused by a deficiency of glutaryl-CoA dehydrogenase. Previous studies have reported subdural hemorrhage in untreated patients with glutaric acidemia type 1. However, there is only one report of severe acute subdural hemorrhage after minor head trauma in a patient with glutaric acidemia type 1 under guideline-recommended treatment. We report a second case of life-threatening severe acute subdural hemorrhage after a minor head trauma in a patient with glutaric acidemia type 1. This patient was previously diagnosed by newborn screening, and treatment began at 25 days of age. Early diagnosis and guideline-recommended treatment produce better outcomes for patients with glutaric acidemia type 1, although the risk of subdural hemorrhage remains.


Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/cirugía , Encefalopatías Metabólicas/cirugía , Traumatismos Craneocerebrales/cirugía , Glutaril-CoA Deshidrogenasa/deficiencia , Hematoma Subdural Agudo/cirugía , Índice de Severidad de la Enfermedad , Errores Innatos del Metabolismo de los Aminoácidos/complicaciones , Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico por imagen , Encefalopatías Metabólicas/complicaciones , Encefalopatías Metabólicas/diagnóstico por imagen , Traumatismos Craneocerebrales/complicaciones , Traumatismos Craneocerebrales/diagnóstico por imagen , Hematoma Subdural Agudo/complicaciones , Hematoma Subdural Agudo/diagnóstico por imagen , Humanos , Lactante , Masculino , Resultado del Tratamiento
13.
Pediatr Int ; 58(9): 936-9, 2016 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-27463219

RESUMEN

Extrapontine myelinolysis (EPM) is an uncommon disorder in children, with few pediatric cases reported to date. We report the first case of an infant with EPM without central pontine myelinolysis (CPM) presenting with severe hypernatremia. On admission, the infant had impaired consciousness, mild dehydration, and severe hypernatremia (190 mmol/L). The following day, the patient developed abnormal involuntary movements. Brain magnetic resonance imaging (MRI) confirmed EPM without CPM. He recovered without sequelae, and clinical examinations were within normal limits approximately 6 months after discharge. Brain MRI at 1 year after onset showed complete disappearance of the previous EPM regions. To the best of our knowledge, this represents the youngest patient with EPM without CPM presenting with severe hypernatremia. Given that treatment for osmotic demyelination syndrome (ODS) is yet to be established, preventing the development of ODS is crucial.


Asunto(s)
Hipernatremia/etiología , Mielinólisis Pontino Central/complicaciones , Sodio/sangre , Humanos , Hipernatremia/sangre , Hipernatremia/diagnóstico , Lactante , Imagen por Resonancia Magnética/métodos , Masculino , Mielinólisis Pontino Central/diagnóstico , Índice de Severidad de la Enfermedad
14.
Pediatr Int ; 58(8): 778-81, 2016 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-27324861

RESUMEN

A 7-month-old girl was brought to hospital due to vomiting. Upon admission, she was in a convulsive state and stupor with extremely low blood glucose. Head computed tomography showed brain edema, and comprehensive treatment for acute encephalopathy was initiated immediately. Severe hypoglycemia, metabolic acidosis, elevation of ammonia and serum transaminases and creatine kinase suggested metabolic decompensation. Infusion of a high-glucose solution containing vitamins, biotin, and l-carnitine resolved the metabolic crisis quickly, but brain damage was irreversible. She was found to have been fed exclusively on a hypoallergenic formula (HF) for 7 months, although she was found later to be non-allergic. Evidence of inborn metabolic diseases was absent, therefore biotin deficiency and carnitine deficiency were concluded to be a consequence of reliance on a HF for a prolonged period. Health-care professionals should warn parents of the consequences of using HF.


Asunto(s)
Glucemia/análisis , Encefalopatías/etiología , Encéfalo/diagnóstico por imagen , Hipoglucemia/complicaciones , Fórmulas Infantiles/efectos adversos , Encefalopatías/sangre , Encefalopatías/diagnóstico , Femenino , Humanos , Hipoglucemia/sangre , Hipoglucemia/diagnóstico , Lactante , Imagen por Resonancia Magnética
15.
Pediatr Neurol ; 51(4): 550-2, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25266617

RESUMEN

BACKGROUND: Wolf-Hirschhorn syndrome is a congenital malformation syndrome resulting from deletion of the short arm of chromosome 4. Individuals with Wolf-Hirschhorn syndrome may have a "Greek warrior helmet" appearance, growth retardation, developmental delay, muscular hypotonia, epilepsy, and difficulty with language including verbal communication. An affinity for music has not previously been reported in these patients. PATIENTS: We describe two patients with Wolf-Hirschhorn syndrome who both have a strong affinity for music. One patient is a 20-year-old woman who likes to listen to music all day and can hum many tunes. The other patient is a 9-year-old girl who is calmed by music and received music therapy, with subsequent improvement in her communication skills (eye contact, joint attention, and vocalizations to request music). CONCLUSIONS: Individuals with Wolf-Hirschhorn syndrome may have a strong affinity for music and may benefit from music therapy. Additional studies are needed to investigate the interest in music in individuals with Wolf-Hirschhorn syndrome.


Asunto(s)
Música/psicología , Síndrome de Wolf-Hirschhorn/psicología , Adulto , Niño , Femenino , Humanos , Musicoterapia , Síndrome de Wolf-Hirschhorn/terapia , Adulto Joven
16.
Adv Exp Med Biol ; 812: 253-261, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24729241

RESUMEN

Orthostatic dysregulation (OD) has been classified into subtypes by heart rate and blood pressure; however, the hemodynamics of brains have not yet been revealed. Therefore, we investigated changes in cerebral blood flow and oxygenation during an active standing test to clarify the pathophysiology of two subtypes: postural tachycardia syndrome (POTS) and neurally mediated syncope (NMS). We studied 31 children (15 boys, 16 girls; mean age, 14.0 ± 1.7 years) who presented with OD at the Department of Pediatrics and Child Health, Nihon University School of Medicine between 2009 and 2011. OD was diagnosed using the Japanese clinical guidelines for juvenile orthostatic dysregulation. After a 10-min resting period in the supine position, patients were asked to quickly stand up and keep upright for 10 min. Cerebral blood flow and cerebral oxygenation were measured using transcranial Doppler sonography and near-infrared spectroscopy. POTS showed a significant decrease of oxy-Hb and resistance index (RI), suggesting transient ischemia with maintainable cerebral autoregulation. NMS showed a decrease of oxy-Hb and an increase of RI, suggesting ischemia and impairment of autoregulation.


Asunto(s)
Circulación Cerebrovascular , Oxígeno/sangre , Síndrome de Taquicardia Postural Ortostática/sangre , Postura , Síncope/sangre , Niño , Femenino , Humanos , Masculino
17.
Adv Exp Med Biol ; 812: 271-278, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24729243

RESUMEN

Near-infrared spectroscopy enables recognition of various brain conditions based on certain factors, such as oxygenated hemoglobin (oxy-Hb). Since July 2012, we have been trying to determine the mechanisms of autonomic function in Japanese children with orthostatic intolerance (also called orthostatic dysregulation) in Nihon University Itabashi Hospital in Tokyo, Japan. A total of 23 children aged 7-16 years diagnosed with postural tachycardia syndrome (POTS), a subtype of orthostatic dysregulation, were enrolled in the study. We evaluated the relation between asymmetry in frontal cortex activity and the automatic nervous system and compared oxy-Hb changes in the right and left frontal cortices during an active standing test. We observed that during active standing oxy-Hb decreased in the frontal cortex. The oxy-Hb changes were asymmetrical, with a significantly larger decrease in the left frontal cortex than in the right frontal cortex, suggesting that tachycardia during active standing in POTS patients might be caused by activation of the right frontal cortex, which induces sympathetic nervous system activity.


Asunto(s)
Encéfalo/irrigación sanguínea , Oxígeno/sangre , Síndrome de Taquicardia Postural Ortostática/sangre , Postura , Adolescente , Niño , Femenino , Humanos , Masculino
18.
No To Hattatsu ; 46(1): 16-21, 2014 Jan.
Artículo en Japonés | MEDLINE | ID: mdl-24620425

RESUMEN

OBJECTIVE: We investigated the clinical efficacy and pharmacokinetics of lamotrigine (LTG) as an add-on therapy in childhood-onset intractable epilepsy. METHODS: We reviewed the charts of 28 outpatients who had received LTG as an add-on therapy. The data collected included epilepsy type, seizure frequency, concomitant anti-epileptic drugs, dosage of LTG and LTG serum levels. Furthermore, we reviewed the relationship between the LTG serum levels (microg/ml) and dosage of LTG (mg/kg/day), as well as the relationship between the LTG serum levels (microg/ml) and clinical efficacy in the following 2 groups:the valproate sodium (VPA) combination group and the non-VPA combination group. RESULTS: A reduction of 50% or more in seizure frequency was observed in 10 patients. In addition, there was a high correlation between the LTG serum levels and the dosage of LTG in each group. In the VPA combination group, the average of LTG serum levels in patients with adequate therapeutic response (50% reduction in seizure frequency) was higher than that in patients without adequate therapeutic response. In the non-VPA combination group, the average LTG serum level in adequate response patients was lower than that in patients without adequate therapeutic response. However, the epilepsy types of adequate response patients differed in the two groups. CONCLUSIONS: The LTG serum level is predictable based on the dosage of LTG. It was judged that the effective blood concentration of LTG differed when used with VPA, although factors other than the combined use of VPA should have been taken into consideration also.


Asunto(s)
Convulsiones/tratamiento farmacológico , Triazinas/farmacocinética , Adolescente , Edad de Inicio , Niño , Quimioterapia Combinada/métodos , Femenino , Humanos , Lamotrigina , Masculino , Resultado del Tratamiento , Triazinas/uso terapéutico , Ácido Valproico/administración & dosificación , Ácido Valproico/uso terapéutico
19.
BMC Pediatr ; 14: 27, 2014 Jan 30.
Artículo en Inglés | MEDLINE | ID: mdl-24479564

RESUMEN

BACKGROUND: Dalteparin, a low-molecular-weight heparin, has anticoagulant and anti-angiogenic activity. This study investigated whether dalteparin reduced coronary artery lesion (CAL) prevalence, and resistance to intravenous immunoglobulin (IVIG) therapy in Kawasaki disease (KD). METHODS: This retrospective study comprised two parts. In the first cohort, 126 patients with KD (68 male, 58 female; median age: 22 months, range: 1-67 months) admitted to Nihon University Nerima-Hikarigaoka Hospital from January 2004 to June 2008, received either dalteparin 75 IU/kg/day, IVIG 400 mg/kg/day for 5 consecutive days, and aspirin 30 mg/kg/day, or dalteparin 75 IU/kg/day and aspirin 30 mg/kg/day, until clinical improvement. Control data came from the 2005-6 Nationwide KD survey. In the second cohort, 112 patients with KD (59 male, 53 female; median age: 19 months, range: 1-66 months) admitted from June 2010 to February 2012, received either dalteparin 75 IU/kg/day, IVIG 2.0 g/kg over 12 h, and aspirin 30 mg/kg/day, or dalteparin 75 IU/kg/day and aspirin 30 mg/kg/day. Control data came from the 2009-10 Nationwide KD survey. No patients enrolled in the nationwide surveys received dalteparin. All patients at our institution were given dalteparin in their combination therapy. RESULTS: A comparison of the first cohort with controls in the nationwide survey showed that the prevalence of initial administration of IVIG was 80.2% versus 86.0%; the rate of additional IVIG administration was 7.1% versus 14.0% (p = 0.03); CAL prevalence in the acute period was 4.8% versus 11.9% (p < 0.01); and the prevalence of cardiovascular sequelae was 0% versus 3.8% (p < 0.05). A comparison of the second cohort with controls in the nationwide survey showed that the rate of initial administration of IVIG was 92.9% versus 89.5%; the rate of additional IVIG administration was 8.9% versus 17.1% (p = 0.02); the prevalence of resistance to IVIG was 3.6% versus 14.9% (p < 0.001); and CAL prevalence in the acute period was 2.7% versus 8.6% (p = 0.03). CONCLUSIONS: This study found that adjunctive dalteparin was associated with a lower prevalence of IVIG resistance and CAL in young children with KD. TRIAL REGISTRATION UMIN-CTR: UMIN000010349.


Asunto(s)
Anticoagulantes/uso terapéutico , Dalteparina/uso terapéutico , Síndrome Mucocutáneo Linfonodular/tratamiento farmacológico , Quimioterapia Adyuvante , Preescolar , Enfermedad de la Arteria Coronaria/etiología , Enfermedad de la Arteria Coronaria/prevención & control , Femenino , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Lactante , Masculino , Síndrome Mucocutáneo Linfonodular/complicaciones , Proyectos Piloto , Estudios Retrospectivos
20.
J Infect Chemother ; 20(2): 134-8, 2014 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-24462436

RESUMEN

Mycoplasma pneumoniae is a common cause of respiratory tract illness in children. Among the most common extrapulmonary manifestations are disorders of the central nervous system, including meningitis, meningoencephalitis, cerebellitis, polyneuropathy, acute disseminated encephalomyelitis, and Guillain-Barré syndrome. Guillain-Barré syndrome, also known as acute inflammatory demyelinating polyradiculoneuropathy, is an acute-onset, immune-mediated disorder of the peripheral nervous system. The central nervous system is usually intact in patients with Guillain-Barré syndrome. However, there have been some reports of an association of Guillain-Barré syndrome with central nervous system involvement in children. We report a 3-year-old boy with M. pneumoniae infection associated with Guillain-Barré syndrome and encephalitis. Both serum anti-GM1 ganglioside (IgG and IgM) and anti-galactocerebroside IgG antibodies were detected in our patient: the former in the earlier stage of the disease, and the latter in the later stage. We speculate that anti-GM1 ganglioside was associated more with encephalitis, and anti-galactocerebroside antibody was associated more with GBS in our case. Our patient is the youngest report of Guillain-Barré syndrome with central nervous system involvement, and the first report of a pediatric patient with associated M. pneumoniae infection. Such cases are rarely reported, but highlight the need for awareness of the association of the infection with Guillain-Barré syndrome with central nervous system involvement.


Asunto(s)
Encefalitis/microbiología , Síndrome de Guillain-Barré/microbiología , Neumonía por Mycoplasma/complicaciones , Preescolar , Humanos , Masculino
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