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1.
Pediatr Int ; 2021 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-34807498

RESUMO

We performed a retrospective survey and verification of the medical records of death cases of children (and adolescents; aged <18 years) between 2014 and 2016 in pediatric specialty training facilities in Japan. Of the 2827 registered cases at 163 facilities, 2348 cases were included. The rate of identified deaths compared with the demographic survey was 18.2%-21.0% by age group. The breakdown of deaths was determined as follows: 638 cases (27.2%) were due to external factors or unknown causes, 118 (5.0%) were suspected to involve child maltreatment, 932 (39.7%) were of moderate or high preventability or were indeterminable cases. Further detailed verification was required for 1,333 cases (56.8%). Comparison of the three prefectures with high rates of identified deaths in Japan revealed no significant differences, such as in the distribution of diseases, suggesting that there was little selection bias. The autopsy rate of deaths of unknown cause was 43.4%, indicating a high ratio of forensic autopsies. However, sufficient clinical information was not collected; therefore, thorough evaluations were difficult to perform. Cases with a moderate or high possibility of involvement of child maltreatment accounted for 5%, similar to previous studies. However, more objective evaluation is necessary. Preventable death cases including potentially preventable accounted for 25%, indicating that proposals need to be made for specific preventive measures. Individual primary verification followed by secondary verification by multiple organizations is effective. It is anticipated that a Child Death Review (CDR) system with such a multi-layered structure will be established; however, the following challenges were revealed: 1. The subjects of CDR are all child deaths. Even if natural death cases are entrusted to medical organizations, and complicated cases to other special panels, the numbers are very high. Procedures need to be established to sufficiently verify these cases. 2. Although demographic statistics are useful for identifying all deaths, care must be taken when interpreting such data. 3. Detailed verification of the cause-of-death will affect the determination of subsequent preventability. Because verification based only on clinical information is difficult, a procedure that collates non-medical information source should be established. 4. It is necessary to organize the procedures to objectively evaluate the involvement of child maltreatment and raise awareness among practitioners. 5. To propose specific preventive measures, a mechanism to ensure multi-professional diverse perspectives is crucial, in addition to fostering the foundation of individual practitioners. In addition, to implement the proposed measures, it is necessary to discuss the responsibilities and authority of each organization. 6. Once the CDR system is implemented, verification of the system should be repeated. Efforts to learn from child deaths and prevent deaths that are preventable as much as possible are essential duties of pediatricians. Pediatricians are expected to undertake the identified challenges and promote and lead the implementation of the CDR system.

2.
Acute Med Surg ; 8(1): e626, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33552526

RESUMO

Mass gatherings are events characterized by "the concentration of people at a specific location for a specific purpose over a set period of time that have the potential to strain the planning and response resources of the host country or community." Previous reports showed that, as a result of the concentration of people in the limited area, injury and illness occurred due to several factors. The response plan should aim to provide timely medical care to the patients and to reduce the burden on emergency hospitals, and to maintain a daily emergency medical services system for residents of the local area. Although a mass gathering event will place a significant burden on the local health-care system, it can provide the opportunity for long-term benefits of public health-care and improvement of daily medical service systems after the end of the event. The next Olympic and Paralympic Games will be held in Tokyo, during which mass gatherings will occur on a daily basis in the context of the coronavirus disease (COVID-19) epidemic. The Academic Consortium on Emergency Medical Services and Disaster Medical Response Plan during the Tokyo Olympic and Paralympic Games in 2020 (AC2020) was launched 2016, consisting of 28 academic societies in Japan, it has released statements based on assessments of medical risk and publishing guidelines and manuals on its website. This paper outlines the issues and countermeasures for emergency and disaster medical care related to the holding of this big event, focusing on the activities of the academic consortium.

3.
Mol Genet Metab Rep ; 25: 100672, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33163364

RESUMO

We report a case of a 7-month-old boy with Short-chain enoyl-CoA hydratase (ECHS1) deficiency concomitant with prominent ketoacidosis, and no elevation in plasma lactate levels. He suddenly became unconscious, after he had a lot of defecation. He was referred to our hospital by a local doctor because of a right conjugate deviation and hypotonia. Initial investigations revealed severe anion gap metabolic acidosis, hyperuricemia, hyperketonemia, and normal lactate levels in the blood and cerebrospinal fluid. Magnetic resonance imaging of the brain showed abnormal signals in the bilateral caudate nucleus and globus pallidus, suggesting the possibility of inborn errors of metabolism. Thus, analysis of acylcarnitine analysis and urine organic acid was performed but could not help diagnose his condition. We then performed mutation analysis using a DNA panel. We found the following heterozygous mutations in ECHS1: c.5C > T (p. Ala2Val) and c.176 A > G (p. Asn59Ser), leading to the diagnosis of Leigh encephalopathy. This case report expands our understanding of the multiple symptoms of ECHS1 deficiency and emphasizes the importance of genetic testing for inborn errors of metabolism, such as ECHS1 deficiency, to initiate early treatment.

4.
BMJ Open ; 10(11): e033822, 2020 11 09.
Artigo em Inglês | MEDLINE | ID: mdl-33168548

RESUMO

OBJECTIVES: To examine the association between body temperature (BT) on hospital arrival and in-hospital mortality among paediatric trauma patients. DESIGN: A retrospective cohort study. SETTING: Japan Trauma Data Bank (JTDB, which is a nationwide, prospective, observational trauma registry with data from 235 hospitals). PARTICIPANTS: Paediatric trauma patients <16 years old who were transferred directly from the scene of injury to the hospital and registered in the JTDB from January 2004 to December 2017 were included. We excluded patients >16 years old and those who developed cardiac arrest before or on hospital arrival. PRIMARY OUTCOME: The association between BT on hospital arrival and in-hospital mortality. We conducted multivariate logistic regression analyses to calculate the adjusted ORs, with their 95% CIs, of the association between BT and in-hospital mortality. RESULTS: A total of 9012 patients were included (median age: 9 years (IQR, 6.0-13.0 years), mortality: 2.5% (mortality number was 226 in total 9012 patients)). In the multivariate logistic regression analysis, the corresponding adjusted ORs of BT <36.0°C and BT ≥37.0°C, relative to a BT of 36°C-36.9°C, for in-hospital mortality were 2.83 (95% CI: 1.85 to 4.33) and 0.93 (95% CI: 0.53 to 1.63), respectively. CONCLUSIONS: In paediatric patients with hypothermia (BT <36.0°C) on hospital arrival, a clear association with in-hospital mortality was observed; no such association was observed between higher BT values (≥37.0°C) and outcomes.


Assuntos
Temperatura Corporal , Adolescente , Criança , Pré-Escolar , Feminino , Mortalidade Hospitalar , Humanos , Lactente , Japão/epidemiologia , Modelos Logísticos , Masculino , Estudos Prospectivos , Estudos Retrospectivos
5.
Am J Case Rep ; 21: e921177, 2020 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-32225125

RESUMO

BACKGROUND Myocarditis is a rare but potentially fatal complication of mumps virus infection. Left ventricular non-compaction (LVNC) is a rare congenital abnormality that can lead to development of low cardiac output, cardiac dysfunction, arrhythmias, or sudden cardiac death. To the best of our knowledge, no autopsy cases of mumps myocarditis with LVNC have been reported in the literature. Here, we report an autopsy case of a 21-month-old girl who died due to mumps myocarditis associated with an undiagnosed LVNC. CASE REPORT Postmortem computed tomography demonstrated bilaterally enlarged parotid glands. Serum analysis of anti-mumps IgM titer was positive. Macroscopic and histological examinations revealed glandular destruction with massive inflammatory cell infiltration of the enlarged parotid glands and mild inflammatory cell infiltration of the heart, which showed prominent trabeculations and deep intra-trabecular recesses, indicating LVNC. Immunohistochemical analyses showed positive immunostainings for mumps in the cardiac and salivary gland tissues. CONCLUSIONS These findings suggest that mumps myocarditis associated with LVNC contributed to this patient's death. Myocarditis patients with other comorbidities, including LVNC, may be at higher risk of sudden death. Further reports of mumps myocarditis and LVNC are needed to better understand the mechanisms of sudden unexpected deaths in children.


Assuntos
Morte Súbita Cardíaca/etiologia , Cardiopatias Congênitas/complicações , Caxumba/complicações , Miocardite/virologia , Autopsia , Evolução Fatal , Feminino , Humanos , Lactente
6.
BMC Pediatr ; 20(1): 19, 2020 01 16.
Artigo em Inglês | MEDLINE | ID: mdl-31948427

RESUMO

BACKGROUND: Cleidocranial dysplasia (CCD) is a rare skeletal disorder with autosomal dominant inheritance that is characterized by hypoplastic clavicles, delayed closure of the cranial sutures, dental abnormalities, and short stature, among other features. The responsible gene for CCD is RUNX2 located on the short arm of chromosome 6p21. In general, there are intrafamilial variations in height among CCD patients. Few studies have reported data on recombinant human growth hormone (rhGH) treatment for patients with CCD; thus, it remains to be elucidated whether rhGH treatment can improve short stature. Here, we report a case of a 6-year-old girl with CCD who has growth hormone deficiency (GHD) and a novel mutation of RUNX2. CASE PRESENTATION: At 5 years of age, this patient was diagnosed with GHD and rhGH treatment was initiated. Thereafter, she was diagnosed with CCD due to the presence of hypoplastic clavicles and an open fontanelle, which was also observed in her mother and brother. She responded well to rhGH treatment; her height improved from - 3.2 SD to - 2.4 SD after 13 months. CONCLUSION: A detailed patient history and physical examination are necessary for the early diagnosis of CCD. Similarly, to ascertain the effect of rhGH treatment, careful evaluation of the patient's final height post-therapy is needed.


Assuntos
Displasia Cleidocraniana , Nanismo , Hormônio do Crescimento Humano , Criança , Displasia Cleidocraniana/diagnóstico , Displasia Cleidocraniana/genética , Feminino , Hormônio do Crescimento Humano/deficiência , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Masculino
9.
Pediatr Int ; 58(7): 613-5, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26892590

RESUMO

Traumatic herniation of the buccal fat pad is a rare traumatic disease. Treatment consists of either excision or replacement. We herein report the first case in which a traumatic herniation of the buccal fat pad healed naturally. It was necessary to differentiate the disease from lipoblastoma. A 17-month-old boy was admitted to a clinic with an intraoral tumor that had suddenly increased in size. The tumor was diagnosed as herniation of the buccal fat pad on pathology of a biopsy specimen. In the present case, the escaped buccal fat body returned naturally and engrafted without dysfunction or facial defects. Given that young children may easily fall down with various objects in their mouth, care is required to prevent traumatic accidents. Traumatic herniation of the buccal fat pad should be considered in the differentiation of tumors of the oral cavity in young children.


Assuntos
Tecido Adiposo , Bochecha/lesões , Traumatismos Faciais/complicações , Hérnia/etiologia , Traumatismos Faciais/diagnóstico , Hérnia/diagnóstico , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Remissão Espontânea
10.
Blood Coagul Fibrinolysis ; 26(8): 964-6, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26397882

RESUMO

Acquired haemophilia A (AHA) is a life-threatening haemorrhagic disorder that occurs with various underlying conditions such as autoimmune disease, drug reactions, lymphoproliferative diseases, solid tumours and pregnancy/postpartum status. However, in half of all reported cases, the underlying disease is unknown. Most AHA cases develop in adults; paediatric/adolescent cases are extremely rare. The main clinical symptom is bleeding into the skin, muscles, soft tissues and/or mucous membranes. Here, we report the case of an otherwise healthy 12-year-old girl who presented with prolonged bleeding postexodontia. After being diagnosed with AHA, she was successfully treated with recombinant activated factor VII infusion and oral prednisolone. To avoid such unanticipated bleeding when performing dental extraction, preoperative haemostatic screening tests are recommended.


Assuntos
Exsanguinação/tratamento farmacológico , Hemofilia A/tratamento farmacológico , Extração Dentária/efeitos adversos , Criança , Exsanguinação/sangue , Exsanguinação/etiologia , Exsanguinação/patologia , Fator VIIa/uso terapêutico , Feminino , Hemofilia A/sangue , Hemofilia A/etiologia , Hemofilia A/patologia , Hemostáticos/uso terapêutico , Humanos , Prednisolona/uso terapêutico , Proteínas Recombinantes/uso terapêutico , Resultado do Tratamento
11.
Springerplus ; 4: 412, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26266083

RESUMO

BACKGROUND: Low competency for determination of brain death (BD) and unfamiliarity with Japanese BD (JBD) criteria among pediatricians were highlighted in previous nationwide studies. Because the JBD criteria were amended in 2010 to allow organ donation from pediatric brain-dead donors, we created a 2-day training course to assess knowledge and improve skill in the determination and diagnosis of pediatric BD. METHODS: The course consisted of two modules: a multistation round session and a group discussion session, and was bookended by a before and after 20-question test. In the multistation round session, participants rotated between stations staffed by expert faculty members. For hands-on skill development, we used the Sim Junior 3G™ simulation mannequin (Laerdal Medical, Wappingers Falls, NY, USA) for structured simulations. In the group discussion session, we implemented simulation-based role playing to practice decision making in prepared scenarios of complicated clinical situations. We investigated the participants' impressions of the course by self-scoring and questionnaires. RESULTS: Of 147 pediatric healthcare providers from multiple specialties who participated in this course, 145 completed the entire process. The course was evaluated in three aspects with self-scoring and questionnaires: (1) value (4.58 ± 0.64; range 1-5); (2) time schedule (2.40 ± 0.61; range 1-3); and (3) difficulty (2.89 ± 0.43; range 1-5). Finally, participants scored the entire course program (9.64 ± 1.69; range 1-11). Various positive feedbacks were obtained from a total of 93 participants. Post-test scores (83.6 %) were significantly higher than pre-test scores (62.9 %). CONCLUSION: This simulation-based course represents an effective method to train pediatric healthcare providers in determining BD in Japan and may improve baseline knowledge of BD among participants.

12.
Int J Pediatr Otorhinolaryngol ; 78(11): 1917-22, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25213423

RESUMO

OBJECTIVES: An ectopic cervical thymus (ECT) is regarded as a rare congenital anomaly; therefore, the optimal diagnostic and therapeutic strategy remains a debatable matter. We designed a study to elucidate the clinicopathological characteristics of ECTs in consecutive, unselected infant autopsies, to help guide case management. METHODS: We searched for ECTs in all of the 21 consecutive, unselected infant autopsy cases performed at our institution over a period of 3 years, and all ECT consensus diagnoses were confirmed by histological examination. The following clinical characteristics were evaluated in cases with ECTs: age, gender, birth week and weight, clinical symptoms due to the ECT(s), position on discovery of death, cause of death, ECT contribution to the cause of death, and concomitant congenital disorders. The anatomical features evaluated included the location, number, size, color, shape, and margins of the ECTs, and the presence of a mediastinal thymus. Histological findings of the ECT(s) and the mediastinal thymus were compared within each individual. Fusion of the parathyroid and the ECT was also investigated histologically. Spearman's rank correlation coefficient (ρ) and the corresponding P value were calculated to determine if there was an association between ECT diameter and age. RESULTS: We detected 10 ECT lesions in seven cases (33%) among the 21 infant autopsy cases. The ECT cases involved five boys and two girls, with ages ranging from 1 day to 4 months. There were no reports of a positive family history of sudden death or antemortem clinical symptoms due to ECT in any of the cases. The ECTs were considered incidental regarding the cause of death, with the exception of one case that was extremely rare. Most ECTs were localized to the inferior thyroid, ranging from 0.4 to 1.9 cm in size. Size demonstrated a significant negative correlation with age (ρ=-0.75 and P=0.034). CONCLUSIONS: This study revealed that ECT is an essentially benign anomaly that occurs frequently during the development of the thymus, and may disappear over the first few years of life. These results suggest a conservative approach to the management of ECTs would be appropriate.


Assuntos
Coristoma/patologia , Timo , Doenças da Traqueia/patologia , Asfixia/etiologia , Feminino , Humanos , Achados Incidentais , Lactente , Recém-Nascido , Masculino , Doenças Raras/patologia
13.
Int J Pediatr Otorhinolaryngol ; 77(9): 1609-12, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23890765

RESUMO

An ectopic cervical thymus is a rare congenital anomaly that can be located anywhere along the developmental pathway of thymic descent. Most lesions manifest as a cystic mass and have an indolent course. Two fatal cases associated with ectopic cervical thymus in the form of a solid mass are presented in conjunction with a review of the clinicopathological characteristics of the solid form. This report emphasizes the importance of considering a diagnosis of ectopic cervical thymus in infants with neck masses, with or without obstructive symptoms, to prevent possibly fatal outcomes.


Assuntos
Coristoma/complicações , Morte Súbita do Lactente/etiologia , Timo , Doenças da Traqueia/complicações , Obstrução das Vias Respiratórias/diagnóstico por imagem , Obstrução das Vias Respiratórias/etiologia , Autopsia , Vértebras Cervicais , Coristoma/diagnóstico por imagem , Humanos , Lactente , Masculino , Decúbito Ventral , Doenças Raras , Decúbito Dorsal , Tomografia Computadorizada por Raios X , Doenças da Traqueia/diagnóstico por imagem
14.
Pediatr Int ; 54(6): 948-58, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22748165

RESUMO

BACKGROUND: The Japanese Society of Emergency Pediatrics has formulated evidence-based guidelines for the management of intussusception in children in order to diagnose intussusceptions promptly, to initiate appropriate treatment as early as possible, and to protect intussuscepted children from death. METHODS: Literature was collected systematically via the Internet using the key words "intussusception" and "children." The evidence level of each paper was rated in accordance with the levels of evidence of the Oxford Center for Evidence-based Medicine. The guidelines consisted of 50 clinical questions and the answers. Grades of recommendation were added to the procedures recommended on the basis of the strength of evidence levels. RESULTS: Three criteria of "diagnostic criteria,""severity assessment criteria," and "criteria for patient transfer" were proposed aiming at an early diagnosis, selection of appropriate treatment, and patient transfer for referral to a tertiary hospital in severe cases. Barium is no longer recommended for enema reduction (recommendation D) because the patient becomes severely ill once perforation occurs. Use of other contrast media, such as water-soluble iodinated contrast, normal saline, or air, is recommended under either fluoroscopic or sonographic guidance. Delayed repeat enema improves reduction success rate, and is recommended if the initial enema partially reduced the intussusception and if the patient condition is stable. CONCLUSIONS: The guidelines offer standards of management, but it is not necessarily the purpose of the guidelines to regulate clinical practices. One should judge each individual clinical situation in accordance with experiences, available devices, and the patient's condition.


Assuntos
Intussuscepção/diagnóstico , Intussuscepção/terapia , Distribuição por Idade , Criança , Pré-Escolar , Meios de Contraste , Gerenciamento Clínico , Medicina Baseada em Evidências , Feminino , Fluoroscopia , Humanos , Lactente , Intussuscepção/epidemiologia , Japão/epidemiologia , Masculino , Distribuição por Sexo , Sociedades Médicas
15.
Forensic Sci Int ; 221(1-3): e25-9, 2012 Sep 10.
Artigo em Inglês | MEDLINE | ID: mdl-22607980

RESUMO

Extrahepatic biliary atresia (EHBA) is a rare disease characterized by progressive and obliterative cholangiopathy in infants and is one of the major causes of secondary vitamin K deficiency bleeding (VKDB) due to cholestasis-induced fat malabsorption. Breast feeding increases the tendency of bleeding in EHBA patients because breast milk contains low amounts of vitamin K. A 2-month-old female infant unexpectedly died, with symptoms of vomiting and jaundice prior to death. She had been born by uncomplicated vaginal delivery and exhibited normal growth and development with breastfeeding. There was no history of trauma. She received vitamin K prophylaxis orally. In an emergency hospital, a CT scan showed a right intracranial hematoma and mass effect with midline shift to the left. In the postmortem examination, severe atresia was observed in the whole extrahepatic bile duct. Histologically, cholestasis, periductal fibrosis, and distorted bile ductules were noted. The gallbladder was not identified. A subdural hematoma and cerebellar tonsillar herniation were found; however, no traumatic injury in any part of the body was observed. Together, these findings suggest that the subdural hemorrhage was caused by secondary vitamin K deficiency resulting from a combination of cholestasis-induced fat malabsorption and breastfeeding. Subdural hemorrhage by secondary VKDB sometimes occurs even when vitamin K prophylaxis is continued. This case demonstrated that intrinsic factors, such as secondary VKDB (e.g., EHBA, neonatal hepatitis, chronic diarrhea), should also be considered in infant autopsy cases presenting with subdural hemorrhage.


Assuntos
Atresia Biliar/complicações , Hematoma Subdural/etiologia , Deficiência de Vitamina K/complicações , Ductos Biliares Extra-Hepáticos/patologia , Atresia Biliar/patologia , Colestase Extra-Hepática/complicações , Encefalocele/patologia , Feminino , Fibrose/patologia , Patologia Legal , Hematoma Subdural/patologia , Humanos , Lactente , Cirrose Hepática/patologia , Vitamina K/uso terapêutico , Deficiência de Vitamina K/tratamento farmacológico , Deficiência de Vitamina K/etiologia , Vitaminas/uso terapêutico
16.
BMC Pediatr ; 12: 36, 2012 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-22439793

RESUMO

BACKGROUND: The epidemiology of intussusception, including its incidence, can vary between different countries. The aim of this study was to describe the epidemiology of childhood intussusception in Japan using data from a nationwide inpatient database. METHODS: We screened the database for eligible cases ≤ 18 years of age, who were coded with a discharge diagnosis of intussusception (International Classification of Diseases, 10th revision: K-561) between July to December in 2007 and 2008. We then selected cases according to Level 1 of the diagnostic certainty criteria developed by the Brighton Collaboration Intussusception Working Group. We examined the demographics, management, and outcomes of cases, and estimated the incidence of intussusception. RESULTS: We identified 2,427 cases of intussusception. There were an estimated 2,000 cases of infantile intussusception annually in Japan, an incidence of 180-190 cases per 100,000 infants. The median age at diagnosis was 17 months, and two-thirds of the patients were male. Treatment with an enema was successful in 93.0% of cases (2255/2427). The remainder required surgery. Secondary cases accounted for 3.1% (76/2427). Median length of hospital stay was 3 days. Of the 2,427 cases, we found 2 fatal cases associated with intussusception. CONCLUSIONS: This is currently the largest survey of childhood intussusception in Asia using a standardized case definition. Our results provide an estimate of the baseline risk of intussusception in Japan, and it is higher than the risk observed in other countries.


Assuntos
Enema/estatística & dados numéricos , Intussuscepção/epidemiologia , Adolescente , Criança , Pré-Escolar , Feminino , Hospitalização , Humanos , Incidência , Lactente , Intussuscepção/complicações , Intussuscepção/terapia , Japão/epidemiologia , Tempo de Internação , Masculino , Risco
17.
J Hum Genet ; 57(5): 338-41, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22399141

RESUMO

Paroxysmal kinesigenic dyskinesia (PKD (MIM128000)) is a neurological disorder characterized by recurrent attacks of involuntary movements. Benign familial infantile convulsion (BFIC) is also one of a neurological disorder characterized by clusters of epileptic seizures. The BFIC1 (MIM601764), BFIC2 (MIM605751) and BFIC4 (MIM612627) loci have been mapped to chromosome 19q, 16p and 1p, respectively, while BFIC3 (MIM607745) is caused by mutations in SCN2A on chromosome 2q24. Furthermore, patients with BFIC have been observed in a family concurrently with PKD. Both PKD and BFIC2 are heritable paroxysmal disorders and map to the same region on chromosome 16. Recently, the causative gene of PKD, the protein-rich transmembrane protein 2 (PRRT2), has been detected using whole-exome sequencing. We performed mutation analysis of PRRT2 by direct sequencing in 81 members of 17 families containing 15 PKD families and two BFIC families. Direct sequencing revealed that two mutations, c.649dupC and c.748C>T, were detected in all members of the PKD and BFIC families. Our results suggest that BFIC2 is caused by a truncated mutation that also causes PKD. Thus, PKD and BFIC2 are genetically identical and may cause convulsions and involuntary movements via a similar mechanism.


Assuntos
Coreia/genética , Epilepsia Neonatal Benigna/genética , Proteínas de Membrana/genética , Mutação , Proteínas do Tecido Nervoso/genética , /genética , Análise Mutacional de DNA , Família , Humanos , Linhagem
19.
Brain Nerve ; 62(1): 43-50, 2010 Jan.
Artigo em Japonês | MEDLINE | ID: mdl-20112791

RESUMO

In 2006, the number of pediatric outpatients consulting our hospital during non-practice hours increased by 218.1% of that in 1996. The number of pediatric inpatients during non-practice hours in 2006 increased by 71.3% of that in 1996. In 2006, the number of patients who were admitted with neurological disorders in children during non-practice hours increased to 213.3% of that in 1996. The proportion of these pediatric patients among those who were admitted during non-practice hours was 16.6% in our hospital, suggesting the importance of neurological disorders in pediatric emergency medicine. More than 60% of inpatients with neurological disorders in children were 3 years old or younger. The most common neurological symptoms observed at admission included convulsion (81.6%) and disturbance of consciousness (8.5%). The disorders were mainly febrile seizure (41.4%) and epilepsy (29.0%). Most patients with severe disorders requiring emergency medicine, such as head bruise, acute encephalitis/encephalopathy, purulent meningitis, and head trauma, were admitted during non-practice hours. The prognoses of most neurological disorders in children were favorable. However, patients with sequelae (especially, hypoxic encephalopathy, acute encephalitis/encephalopathy) showed an unfavorable neurological prognosis. Early rehabilitation during admission was useful as a support method for their families. In the future, a comprehensive rehabilitation program for children with acquired brain injury should be established and laws to promote home care must be passed.


Assuntos
Serviço Hospitalar de Emergência , Doenças do Sistema Nervoso , Lesões Encefálicas/epidemiologia , Lesões Encefálicas/reabilitação , Criança , Serviço Hospitalar de Emergência/estatística & dados numéricos , Serviço Hospitalar de Emergência/tendências , Humanos , Pacientes Internados/estatística & dados numéricos , Japão/epidemiologia , Doenças do Sistema Nervoso/epidemiologia , Doenças do Sistema Nervoso/etiologia , Prognóstico
20.
Pediatr Int ; 52(2): 273-8, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19761516

RESUMO

BACKGROUND: Respiratory syncytial virus (RSV) infection in infants can develop into a severe condition. METHODS: A survey of patients with severe RSV infection in hospitals in Kyoto Prefecture was performed from 2003 to 2007. Patients requiring intubation and those with cardiopulmonary arrest on arrival (CPAOA) were considered to have severe RSV infection. RESULTS: Twenty-five patients with severe infection were identified and detailed data were available for 21 patients, of whom 18 required intubation and three had CPAOA. The male/female ratio was 12/9 and age ranged from 8 days to 19 years (average, 5.2 months; median: 2 months). At admission white blood cell count, lactate dehydrogenase (P < 0.05), and blood glucose (P < 0.01) were higher and Na was lower (P < 0.01) in the 18 patients with severe infection (excluding the CPAOA cases) compared to 18 sex- and age-matched patients with mild RSV infection. The incidence of bacterial infection was also higher in severe cases (P < 0.05). The outcome was death in four patients (19.0%, including two sudden deaths), aftereffects in two (9.5%), hospital discharge with improvement in 14 (66.7%), and an unclear outcome in one patient. Excluding the two sudden death cases, 14 of 19 patients (73.7%) were extubated within 2 weeks. The period of intubation was longer in older patients (P < 0.05). CONCLUSION: Because severe RSV infection led to sudden death in two cases, detection of RSV is important at admission for an infant with CPAOA. Fourteen patients (66.7%), however, had good outcomes and most patients were extubated within 2 weeks.


Assuntos
Infecções por Vírus Respiratório Sincicial/epidemiologia , Feminino , Humanos , Lactente , Japão , Masculino , Índice de Gravidade de Doença , Inquéritos e Questionários , Fatores de Tempo
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