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1.
Brain Dev ; 42(1): 28-34, 2020 Jan.
Article in English | MEDLINE | ID: mdl-31604594

ABSTRACT

OBJECTIVE: To investigate the effect of guidelines for management of febrile seizures on the clinical practice, we conducted a nationwide survey in Japan. METHODS: The Japanese guidelines for management of febrile seizures 2015 (GL2015) was released in 2015. In 2016, a questionnaire was sent to all 512 certified hospitals (3 pediatricians each) of the Japan Pediatric Society and all 47 prefecture Pediatric Associations (10 private pediatricians each) in Japan asking about management policies for febrile seizures (FSs) during 2013-2014 and 2016. The questionnaires were about the following procedures: (1) lumbar punctures, blood examinations, and diazepam suppositories for children after a first simple FS at emergency departments; and (2) prophylactic diazepam during febrile illnesses in children with two or three past simple FSs, with no known predictors of recurrence. RESULTS: A total of 1327 pediatricians (66.2%) answered the questionnaire. Numbers of pediatricians performing lumbar punctures and blood examinations, and giving diazepam suppositories after a first simple FS were less in 2016 than in 2013-2014 (1.2% and 2.0%, 53.1% and 61.3%, and 36.7% and 51.9%, respectively). Pediatricians recommending prophylactic diazepam for children with two and three FSs decreased from 45.7% and 82.4% in 2013-2014 to 31.0% and 65.0% in 2016, respectively. CONCLUSION: GL2015 had an effect on the clinical practices of pediatricians. On the other hand, 65% recommended prophylactic diazepam to children with three simple FSs even though GL2015 did not recommend use of diazepam based on number of previous FS. Anxiety about frequent seizures may affect pediatricians' clinical practice.


Subject(s)
Guideline Adherence/statistics & numerical data , Practice Guidelines as Topic , Seizures, Febrile/therapy , Child , Female , Humans , Japan , Male , Surveys and Questionnaires
4.
Clin Endocrinol (Oxf) ; 76(3): 420-4, 2012 Mar.
Article in English | MEDLINE | ID: mdl-21933221

ABSTRACT

CONTEXT: Mutations in the GH1 gene have been identified in patients with isolated growth hormone deficiency (IGHD). Mutations causing aberrant splicing of exon 3 of GH1 that have been identified in IGHD are inherited in an autosomal dominant manner, whereas other mutations in GH1 that have been identified in IGHD are inherited in an autosomal recessive manner. OBJECTIVE: Two siblings born from nonconsanguineous healthy parents exhibited IGHD. To elucidate the cause, GH1 in all family members was analysed. RESULTS: Two novel mutations in GH1, a point mutation in intron 3 and a 16-bp deletion in exon 3, were identified by sequence analyses. The intronic mutation was present in both siblings and was predicted to cause aberrant splicing. The deletion was present in one of the siblings as well as the mother with normal stature and was predicted to cause rapid degradation of mRNA through nonsense-mediated mRNA decay. The point mutation was not identified in the parents' peripheral blood DNA; however, it was detected in the DNA extracted from the father's sperms. As a trace of the mutant allele was detected in the peripheral blood of the father using PCR-RFLP, the mutation is likely to have occurred de novo at an early developmental stage before differentiation of somatic cells and germline cells. CONCLUSIONS: This is the first report of mosaicism for a mutation in GH1 in a family with IGHD. It is clear that the intronic mutation plays a dominant role in the pathogenesis of IGHD in this family, as one of the siblings who had only the point mutation was affected. On the other hand, the other sibling was a compound heterozygote for the point mutation and the 16-bp deletion and it may be arguable whether IGHD in this patient should be regarded as autosomal dominant or recessive.


Subject(s)
Human Growth Hormone/deficiency , Human Growth Hormone/genetics , Mosaicism , Mutation , Base Sequence , Child, Preschool , DNA Mutational Analysis , Fathers , Female , Humans , Infant , Male , Molecular Sequence Data , Pedigree , RNA Splice Sites/genetics , Sequence Deletion , Siblings
5.
J Pediatr ; 156(1): 158-60, 2010 Jan.
Article in English | MEDLINE | ID: mdl-20006770

ABSTRACT

A 22-month-old toddler presented with involuntary movements, hemiparesis, and behavioral changes. Magnetic resonance imaging showed no abnormality, but positron emission tomography (PET) showed focal hypermetabolism. By immunohistochemical technique with the patient's sera in control brain sections, autoantibodies recognizing the same areas as found by PET scanning were identified and disappeared after intravenous immunoglobulin therapy. PET scanning may be useful in the diagnosis of autoimmune encephalitis.


Subject(s)
Autoimmune Diseases/metabolism , Brain/metabolism , Encephalitis/metabolism , Positron-Emission Tomography , Autoantibodies/analysis , Encephalitis/drug therapy , Female , Humans , Immunoglobulin G/immunology , Immunoglobulins, Intravenous/administration & dosage , Immunoglobulins, Intravenous/therapeutic use , Immunohistochemistry , Immunologic Factors/administration & dosage , Immunologic Factors/therapeutic use , Infant , Magnetic Resonance Imaging
6.
J Paediatr Child Health ; 45(11): 636-40, 2009 Nov.
Article in English | MEDLINE | ID: mdl-19845844

ABSTRACT

AIM: This study assessed changes in depressive tendency of children with growth hormone deficiency. METHODS: The 41 children with growth hormone deficiency were assessed using the Depression Self-Rating Scale for Children. A score of 16 or more indicated a depressive tendency. The first assessment was carried out before growth hormone treatment, and the second one was carried out at 6 months or longer after the beginning of growth hormone treatment. RESULTS: The Depression Self-Rating Scale for Children improved significantly from 9.7 +/- 6.1 points before treatment to 6.9 +/- 4.6 points after treatment (P= 0.0013). A depressive tendency was observed in six patients (15%) before growth hormone treatment, and in two patients (5%) after treatment. No significant relationship was observed between the decrease in the score and the length of the treatment. A significant improvement was observed for 6 of the 18 items in the Depression Self-Rating Scale for Children. CONCLUSION: A depressive tendency was relatively common in children with growth hormone deficiency, and the Depression Self-Rating Scale for Children was decreased after growth hormone treatment. These results suggest that growth hormone treatment may have positive effects on the psychosocial aspects in children with growth hormone deficiency.


Subject(s)
Depression/etiology , Growth Disorders/psychology , Human Growth Hormone/deficiency , Adolescent , Child , Depression/diagnosis , Depression/drug therapy , Female , Growth Disorders/drug therapy , Human Growth Hormone/therapeutic use , Humans , Japan , Male , Psychiatric Status Rating Scales , Quality of Life
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