Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series

INTRODUCTION: Paroxysmal kinesigenic dyskinesia is characterized by sudden attacks of involuntary movements. It is often misdiagnosed clinically as psychogenic illness, which distresses the patients to a great extent. A correct diagnosis will improve the quality of life in patients with paroxysmal kinesigenic dyskinesia because treatment with low doses of anticonvulsants is effective for eliminating the clinical manifestations. Paroxysmal kinesigenic dyskinesia can occur independently of or concurrently with benign infantile convulsion. Identification of PRRT2 as the causative gene of benign infantile convulsion and paroxysmal kinesigenic dyskinesia allows genetic confirmation of the clinical diagnosis. CASE PRESENTATION: We describe the clinical features of a Japanese family with either paroxysmal kinesigenic dyskinesia or benign infantile convulsion. A PRRT2 missense mutation (c.981C > G, p.Ile327Met) was identified in two patients with benign infantile convulsion and three patients with paroxysmal kinesigenic dyskinesia as well as in two unaffected individuals. Allowing incomplete penetrance in the mutation carriers, this mutation co-segregated completely with the phenotype. The patients with paroxysmal kinesigenic dyskinesia had been misdiagnosed with psychogenic illness for many years. They were correctly diagnosed with paroxysmal kinesigenic dyskinesia when their children visited a pediatrician for benign infantile convulsion. Treatment with carbamazepine controlled their involuntary movements completely. CONCLUSIONS: Paroxysmal kinesigenic dyskinesia is a treatable movement disorder that is often misdiagnosed clinically as psychogenic illness. It is important to note that two clinically distinct disorders, benign infantile convulsion and paroxysmal kinesigenic dyskinesia, are allelic conditions caused by PRRT2 mutations. Paroxysmal kinesigenic dyskinesia should be suspected in families with a child with benign infantile convulsion

Determination of the reference value and systematic bias of the functional reach test in Japanese elderly people by meta-analysis

AbstractBackground/PurposeThe functional reach test (FRT), which was developed as a clinical balance assessment tool, has been widely used as a fall risk assessment tool in elderly people. The aim of the present study was to investigate the reference value and the presence of systematic bias in the FRT using the methodology of meta-analysis in community-dwelling elderly people.MethodsRelevant research articles were sought from electronic databases: MEDLINE, EMBASE, Cumulative Index to Nursing and Allied Health Literature (CINAHL) and Igakucyuouzasshi. The search was conducted from January 1990 to August 2011, and the terms “functional reach” and “elderly” were used in combination in the search. The searches were limited to peer-reviewed research articles involving Japanese elderly people with good functioning, aged 60 years and older. Weighted means were calculated for the reference value of FRT by a fixed effect model and a random effect model. Furthermore, weighted least squares regression was performed to determine the presence of systematic bias in the reference value of FRT.ResultsA total of 19 articles fulfilled the inclusion criteria, including 4274 participants whose mean age ranged from 69.0 to 81.4 years. The reference value of FRT was 29.44 cm (95% confidence interval: 27.60–31.27 cm) using the random-effect model, since the reference value using the fixed-effect model was found to have significant heterogeneity. Furthermore, multivariate weighted least squares regression was performed, and sex, age, height, and measurement method (one-arm or two-arm reach) were all independently associated with the FRT value (multiple R2 = 0.295, χ2 = 76.6, p < 0.001).ConclusionsSince participants' characteristics (sex, age, and height) and measurement method are probably related to systematic error in the FRT, judgment of physical function in elderly people using only the reference value determined in this study may have limitations

産後うつ状態の母親はどのような経験をしたのか

　産後うつ状態の母親がうつ病をどのように経験し，うつ症状によって生活にどのような困難を感じていたのか，また母親の回復を導いたものは何だったのかを明らかにすることを目的とし，産後うつ状態を経験した女性7名に半構成的面接を行い，データを質的記述的に分析した．7名中5名は産後うつ病の自助グループのスタッフ等であり，スタッフとして見聞きした他の母親の経験も語った．その結果，産後うつ状態の母親の経験として，【産後うつ病について知らなかった】，【自分が産後うつであることを認められなかった】，【家族に理解してもらえず孤独だった】，【育児に対して負担感や怖い気持ちがあった】，【集中力や思考力，判断力の低下で日常生活に困難があった】，【罪悪感や自責感があった】，【自分からつらい気持ちや要求を言えなかった】，【他者との人間関係に困難があった】，【回復に導いてくれたものがあった】という9個のカテゴリーが抽出された．これらの背景には，母親や家族を含めた周囲の人々が，産後うつ病に関する知識を十分持っていないことや産後うつ病に対する偏見があること，母親という役割に対して理想化したイメージを持っていることが影響していると考えられた

Focal frontal epileptiform discharges in a patient with eyelid myoclonia and absence seizures

AbstractEyelid myoclonia with absences is classified as a unique type of generalized seizure. Its pathogenesis is proposed to involve the functional abnormalities in cortical–subcortical networks. Here, we describe the case of a 7-year-old boy who had eyelid myoclonia with absences, along with focal motor seizures. Video-EEG monitoring demonstrated eyelid myoclonia associated with 4- to 5-Hz generalized polyspike–waves preceded by focal frontal discharges. Interictal EEG showed focal epileptiform discharges over the frontal regions. Our case suggests an important role of the frontal lobe in the generation of eyelid myoclonia with absences

Dificuldades e facilidades apontadas por enfermeiras de um hospital de ensino na execução do processo de enfermagem

OBJECTIVE: To identify the difficult and easy aspects of performing the different stages of the nursing process, according to the reports of nurses working at Hospital São Paulo. METHODS: Eighty-three nurses from 20 different hospital units, where the nursing process was regularly implemented, answered structured research questionnaires. RESULTS: Nursing diagnosis and evolution were the phases where nurses reported more difficulties. Most of the difficult and easy points reported are related to the nurses' theoretical and practical knowledge to perform the phases of the process. CONCLUSION: Insufficient knowledge becomes an obstacle for the nurses' compliance to the nursing process. An evaluation of theoretical and practical teaching of the nursing process during undergraduate courses is recommended, as well as continuous education in hospital settings.OBJETIVO: Identificar las dificultades y facilidades mencionadas por enfermeras del Hospital São Paulo en la ejecución de las fases del proceso de enfermería. MÉTODOS: Fueron entrevistadas 83 enfermeras, que trabajaban en 20 unidades de internamiento que poseen el proceso de enfermería implantado en el servicio, utilizándose cuestionarios estructurados. RESULTADOS: El diagnóstico y evolución de enfermería fueron las fases que las enfermeras refirieron tener mayor dificultad para operacionalizar. El núcleo de las dificultades y facilidades está relacionado con el nivel de conocimiento teórico y práctico de las enfermeras para la ejecución de las fases del proceso de enfermería. CONCLUSIÓN: La falta de conocimiento suficiente se vuelve una barrera para la adhesión de las enfermeras al método. Se sugiere la evaluación de la enseñanza teórica y práctica del proceso de enfermería en el pregrado y la educación permanente en los servicios hospitalarios.OBJETIVO: Identificar as dificuldades e facilidades mencionadas por enfermeiras do Hospital São Paulo na execução das fases do processo de enfermagem. MÉTODOS: Foram entrevistadas 83 enfermeiras, atuantes em 20 unidades de internaçaõ que possuem o processo de enfermagem implantado no serviço, utilizando-se questionários estruturados. RESULTADOS: O diagnóstico e evolução de enfermagem foram as fases que as enfermeiras referiram ter maior dificuldade para operacionalizar. O núcleo das dificuldades e facilidades está relacionado com o nível de conhecimento teórico e prático das enfermeiras para a execução das fases do processo de enfermagem. CONCLUSÃO: A falta de conhecimento suficiente torna-se uma barreira para a adesão das enfermeiras ao método. Sugere-se a avaliação do ensino teórico e prático do processo de enfermagem na graduação e a educação permanente nos serviços hospitalares.Centro Universitário São CamiloHealth Ministry National Health Surveillance AgencyUniversidade Federal de São Paulo (UNIFESP) Nursing DepartmentUNIFESP, Nursing DepartmentSciEL

A Case of Meningococcal Meningitis in Tokyo and A Carrier Rate of Neisseria meningitidis in Those Close to The Patient.

Serogroup B Neisseria meningitidis was isolated from a 3-year-old girl with acute meningitis. The patient was completely recovered from the disease by the successful treatment by ampicillin and cefotaxime. From nasopharyngeal swab culture, N. meningitidis was isolated from her parents and 5 out of 93 pupils and kindergarten staff. The isolates from the parents were serogroup B and those from the pupils of the kindergarten were serogroup A. Since the mother of the patient reported an episode of common cold-like symptoms a few days before the patient\u27s illness, we speculate that the mother was the possible source of infection

Detection of Pathologic Heart Murmurs Using a Piezoelectric Sensor

This study aimed to evaluate the capability of a piezoelectric sensor to detect a heart murmur in patients with congenital heart defects. Heart sounds and murmurs were recorded using a piezoelectric sensor and an electronic stethoscope in healthy neonates (n = 9) and in neonates with systolic murmurs caused by congenital heart defects (n = 9) who were born at a hospital. Signal data were digitally filtered by high-pass filtering, and the envelope of the processed signals was calculated. The amplitudes of systolic murmurs were evaluated using the signal-to-noise ratio and compared between healthy neonates and those with congenital heart defects. In addition, the correlation between the amplitudes of systolic murmurs recorded by the piezoelectric sensor and electronic stethoscope was determined. The amplitudes of systolic murmurs detected by the piezoelectric sensor were significantly higher in neonates with congenital heart defects than in healthy neonates (p < 0.01). Systolic murmurs recorded by the piezoelectric sensor had a strong correlation with those recorded by the electronic stethoscope (rho = 0.899 and p < 0.01, respectively). The piezoelectric sensor can detect heart murmurs objectively. Mechanical improvement and automatic analysis algorithms are expected to improve recording in the future

特定健康診査受診者の保健指導受講の有無と3 年後の健診・医療データとの関連の検討

This study was performed to examine whether specific medical examinees’ attendance at a health guidance program influenced the results of health checkups conducted 3 years later and other medical service data. The study population consisted of 250 individuals residing in Town B, Prefecture A, who were enrolled in the national health insurance plan; had received a specific medical checkup in 2012 and subsequently became eligible for health guidance; had received another specific medical checkup in 2015; and for whom relevant medical service data were available. The main variables were age, gender, results of both checkups, annual medical fees, and whether they had received consultations on lifestyle-related diseases at a medical institution. Participants were grouped according to whether they had attended health guidance during the 3-year study period (attendance vs. non-attendance), and ensured that all participant data were anonymized. After 3 years, significant decreases in diastolic blood pressure (DBP) (p < 0.001) and low-density lipoprotein cholesterol (LDL-C) (p = 0.005) were observed among males in the attendance group, while the females in the same group showed significant decreases in body weight (p = 0.043), DBP (p = 0.011), and LDL-C (p = 0.002). To examine how the changes in health checkup results differed between groups, we calculated difference scores by subtracting the 2012 data from the 2015 data. The males in the attendance group showed a significantly greater decrease in DBP ( − 4.12 ± 7.20, p = 0.014) than the males in the non-attendance group. The females in the non-attendance group showed a significantly greater increase in high-density lipoprotein cholesterol (HDL-C) than the females in the attendance group (2.95 ± 8.33, p = 0.042). The number of patients who consulted medical institutions for hypertension (p = 0.039) and hyperlipidemia (p = 0.010) were also significantly increased in the females in the non-attendance group. The significant decrease in DBP among males in the attendance group may have been because these individuals reviewed their lifestyle habits after receiving health guidance. The increase in HDL-C among the females in the non-attendance group could be attributed to their participation in exercise therapy during consultations with other medical institutions. The results of this study clearly indicated the importance of organizing health guidance with collaboration between municipality and medical institutions

Prevalence, definition, and etiology of cesarean scar defect and treatment of cesarean scar disorder : A narrative review

Background: Cesarean scar defects (CSD) are caused by cesarean sections and cause various symptoms. Although there has been no previous consensus on the name of this condition for a long time, it has been named cesarean scar disorder (CSDi). Methods: This review summarizes the definition, prevalence, and etiology of CSD, as well as the pathophysiology and treatment of CSDi. We focused on surgical therapy and examined the effects and procedures of laparoscopy, hysteroscopy, and transvaginal surgery. Main findings: The definition of CSD was proposed as an anechoic lesion with a depth of at least 2 mm because of the varied prevalence, owing to the lack of consensus. CSD incidence depends on the number of times, procedure, and situation of cesarean sections. Histopathological findings in CSD are fibrosis and adenomyosis, and chronic inflammation in the uterine and pelvic cavities decreases fertility in women with CSDi. Although the surgical procedures are not standardized, laparoscopic, hysteroscopic, and transvaginal surgeries are effective. Conclusion: The cause and pathology of CSDi are becoming clear. However, there is variability in the prevalence and treatment strategies. Therefore, it is necessary to conduct further studies using the same definitions.journal articl