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1.
Nurs Health Sci ; 23(4): 957-966, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34689418

RESUMEN

Mothers of children with special healthcare needs often face many extra difficulties, such as being isolated in the community. This study, conducted in the San'in region of Japan between December 2017 and February 2019, aimed to clarify how the mothers established and adapted their connections within their communities through a qualitative descriptive design study. Participants were 12 mothers caring for children with special healthcare needs. Verbatim data on adapting to life after hospital discharge was collected through interviews and analyzed by the modified grounded theory approach. The data generated 14 concepts, which were grouped into four categories, as follows: Difficulties in life that arise from caring for children in social isolation; gaining an objective view of the current situation and future of caring for children with special healthcare needs; collaboration based on the understanding of relationships with others; and feeling fulfilled in life. These describe four phases that the mothers went through which are similar to each stage of the transition theory. Providing support via a collaborative partnership may be effective for mothers experiencing anxiety during the transition stages.


Asunto(s)
Atención a la Salud , Madres , Femenino , Teoría Fundamentada , Humanos , Japón , Investigación Cualitativa
2.
Pediatr Int ; 61(1): 73-79, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30402965

RESUMEN

BACKGROUND: The number of adolescent patients with anorexia nervosa is increasing. In addition, an increase in pre-adolescent patients with premenarchal onset has also been recognized. Detection of the disease in childhood and adolescence, however, is not always easy because the symptoms are not characteristic during this period. This study was performed to investigate detection of anorexia nervosa in children/adolescents by comparing energy and nutrient intake between patients with anorexia nervosa and healthy thin persons. METHODS: The subjects consisted of 13 girls aged 14.4 ± 3.5 years with anorexia nervosa and 320 healthy girls aged 12.4 ± 1.3 years. Dietary intake was evaluated using a validated diet history questionnaire designed for children/adolescents. Daily energy and nutrient intake were expressed as a percentage of the age- and sex-matched reference amount. RESULTS: Healthy lean (body mass index [BMI], <50th percentile) girls with an above-average score for desiring thinness had higher fat and lower cereal intake, and a trend of lower carbohydrate intake. In contrast, patients with anorexia nervosa, compared with thin (BMI <5th percentile) girls, characteristically had significantly lower energy, fat, zinc, vitamin C, and confectionery intake. CONCLUSIONS: Lean girls with an above-average desire for thinness appear to restrict their energy intake by reducing their intake of carbohydrates such as cereals while maintaining a relatively high fat intake. In contrast, girls with anorexia nervosa avoided fat and had a preference for vegetables. This characteristic eating pattern could be a useful clue for detection of anorexia nervosa in thin children and adolescents.


Asunto(s)
Anorexia Nerviosa/diagnóstico , Dieta/estadística & datos numéricos , Conducta Alimentaria , Delgadez/diagnóstico , Adolescente , Índice de Masa Corporal , Niño , Femenino , Humanos , Encuestas y Cuestionarios
3.
Endocr J ; 64(1): 83-90, 2017 Jan 30.
Artículo en Inglés | MEDLINE | ID: mdl-27725360

RESUMEN

Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease characterized by resistance to aldosterone, and the renal form of PHA1 is associated with heterozygous inactivating mutations in NR3C2, which encodes mineralocorticoid receptor (MR). Here we report a case of renal PHA1 due to a novel frameshift mutation in NR3C2. A 10-day-old Japanese male infant, born at 39 weeks gestation (birth weight, 2,946 g), was admitted to our hospital because of lethargy and vomiting, with a 6.7% weight loss since birth. Laboratory test results were: Na+, 132 mEq/L; K+, 6.6 mEq/L; Cl+, 93 mEq/L. Both plasma aldosterone level and plasma renin activity were markedly elevated at diagnosis, 2,940 ng/dL (normal range: 26.9-75.8 ng/dL) and 560 ng/mL/h (normal range 3.66-12.05 ng/mL/h), respectively. Direct sequence analysis of NR3C2 revealed a novel heterozygous mutation (c.3252delC) in the patient and his father. The mutation causes a frameshift starting at amino acid I 963 within the C terminal ligand-binding domain of MR and results in a putative abnormal stop codon at amino acid 994, with an extension of 10 amino acids compared to normal MR. We performed cell culture experiments to determine the levels of mutant NR3C2 mRNA and MR, and evaluate the effects of the mutation on MR response to aldosterone. The mutation decreased the expression of MR, but not NR3C2 mRNA, and led to decreased MR function, with no dominant negative effect. These results provide important information about MR function and NR3C2 mutation in PHA1.


Asunto(s)
Mutación del Sistema de Lectura , Seudohipoaldosteronismo/genética , Receptores de Mineralocorticoides/genética , Receptores de Mineralocorticoides/metabolismo , Animales , Células COS , Chlorocebus aethiops , Regulación hacia Abajo/genética , Familia , Humanos , Recién Nacido , Japón , Masculino , Seudohipoaldosteronismo/metabolismo
4.
Clin Endocrinol (Oxf) ; 83(6): 834-41, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25866162

RESUMEN

OBJECTIVE: The type I insulin-like growth factor I receptor (IGF1R) plays an important role in growth. We aimed to evaluate the detailed mechanism underlying the effect of IGF1R on human growth. PATIENTS AND METHODS: We have performed sequence analysis of IGF1R in 55 patients with SGA short stature in Japan, since 2004, and identified novel heterozygous nonsense mutations in 2 patients: an 8-year-old Japanese boy (case 1), with a birthweight of 2228 g (-3·3 SDS) and height of 46 cm (-2·1 SDS), and a 3-year-old Japanese girl (case 2), with a birthweight of 2110 g (-3·0 SDS) and height of 44·3 cm (-2·8 SDS). Both patients had a short stature (-3·2 SDS, -3·1 SDS). We determined the protein expression of mutated IGF1R, assessed the effect of the endoplasmic reticulum-associated degradation (ERAD) pathway on mutated IGF1R, assessed the dominant-negative effect of IGF1R and performed quantitative RT-PCR analysis of IGF1R mRNA expression in whole blood cells. RESULTS: Two novel heterozygous nonsense mutations (case 1: p.Q1250X and case 2: p.W1249X) were identified. Although these mutations did not affect blood IGF1R mRNA levels, they significantly decreased the expression of IGF1R protein in transiently transfected cells. Treatment with the proteasome inhibitor MG132 showed significantly increased IGF1R protein. CONCLUSIONS: Heterozygous nonsense mutations affecting the C-terminal region (p.Q1250X, p.W1249X) of IGF1R decreased the expression of IGF1R through the ERAD pathway. Our study revealed the importance of the C-terminal region and the dosage of this receptor for growth.


Asunto(s)
Codón sin Sentido/genética , Enanismo/genética , Degradación Asociada con el Retículo Endoplásmico/genética , Receptor IGF Tipo 1/genética , Estatura/genética , Estatura/fisiología , Niño , Preescolar , Femenino , Retardo del Crecimiento Fetal/genética , Heterocigoto , Humanos , Japón , Masculino , Mutación
5.
Endocr J ; 62(1): 101-6, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25319875

RESUMEN

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene. The residual enzyme activity is strongly associated with the phenotype. We describe a rare case of CAH with a rare CYP21A2 mutation. The patient was a one-year-old Japanese boy. At 16 days old, he was referred to our hospital because of elevated serum 17-OH-progesterone (17-OHP) levels in neonatal screening. The compound heterozygous mutations (IVS2-13 A/C>G, and p.E431K) in CYP21A2 were identified at 2 months old, and we diagnosed non-classical CAH, since he did not have significant physical signs (pigmentation and salt-wasting). However, his body weight decreased, and his serum 17-OHP level (99.5 ng/mL) was elevated at 3 months old. Steroid replacement therapy was started at 3 months old. Our patient's clinical course resembled simple virilizing (SV) CAH, but classification was difficult because the patient showed increased renin activity indicating an aldosterone deficiency, and late onset of symptoms. While the IVS 2-13 A/C>G mutation is common in the classical form of CAH, p.E431K is a rare point mutation. Functional analysis revealed that the residual enzyme activity of p.E431L was 5.08±2.55% for 17-OHP and 4.12±2.37% for progesterone, which is consistent with SV CAH. p.E431 is localized in the L-helix near the heme-binding site. The mutation might interfere with heme binding, leading to deactivation of CYP21A2. This report showed that CYP21A2 p.E431 has an important effect on enzyme activity.


Asunto(s)
Hiperplasia Suprarrenal Congénita/genética , Heterocigoto , Mutación Puntual , Esteroide 21-Hidroxilasa/genética , 17-alfa-Hidroxiprogesterona/sangre , 17-alfa-Hidroxiprogesterona/metabolismo , Hiperplasia Suprarrenal Congénita/sangre , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Hiperplasia Suprarrenal Congénita/enzimología , Sustitución de Aminoácidos , Antiinflamatorios/uso terapéutico , Unión Competitiva , Salud de la Familia , Fludrocortisona/uso terapéutico , Hemo/metabolismo , Humanos , Hidrocortisona/uso terapéutico , Lactante , Masculino , Padres , Progesterona/metabolismo , Esteroide 21-Hidroxilasa/química , Esteroide 21-Hidroxilasa/metabolismo , Especificidad por Sustrato , Resultado del Tratamiento , Regulación hacia Arriba/efectos de los fármacos
6.
J Phys Ther Sci ; 27(3): 947-50, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25931766

RESUMEN

[Purpose] An insufficient head control is the most troublesome condition for children with impaired mobility who require optimal seating. [Subjects and Methods] We report on the clinical trial of the newly developed i2i head & neck positioning & support system called i2i for locomotively disabled children with periventricular leukomalacia (PVL). [Results] Two major advantages of the i2i were observed in the trial. The first was its favorable effect on the alignment of the spine to prevent scoliosis and to provide stable breathing and optimal seating, which resulted in improvement of the children's activities of daily living (ADL). The second was its direct application of force to the head rather than indirectly to the pelvis in a conventional seat arrangement. The conventional way of head support is based on stabilization of the trunk which is based on stabilization of the pelvis by some seating arrangement. [Conclusion] The trial of the i2i device demonstrated its usefulness in helping PVL children with insufficient head control develop their abilities while preventing secondary disability.

7.
Pediatr Int ; 56(3): 389-94, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24920454

RESUMEN

BACKGROUND: A preference for calorie-dense food in men seems to be closely linked with a considerably higher incidence of obesity in adulthood for men than women, but it is not clear in which life stage the gender differences in food preference begin to appear. In order to clarify this, a picture choice method has been developed that is designed to evaluate food preferences or interests in children based on their subjective choices. METHODS: In total, 486 children aged 6-12 years were enrolled. To evaluate food interest, children were instructed to choose any 10 from 36 pictures in the panel showing 10 different foods and 26 other things. The number of foods chosen was set as the food interest score. For food preference, they were also instructed to choose any 10 from 36 pictures in the other panel depicting 36 different foods. For the 10 foods chosen, Japanese food score, energy density, fat energy content, and saturated fatty acid score were calculated. These indices were compared for sex, age group and body mass index. RESULTS: Indices reflecting food interest or fat preference were significantly higher in boys than girls both in the 7-9- and 10-12-year-old age groups. Positive correlations were found between food interest score and energy density, fat energy content, and saturated fatty acid score. CONCLUSIONS: Using the picture choice method, definite gender differences in food preference were identified in early elementary school children. This information could be useful for dietary therapy in childhood obesity.


Asunto(s)
Preferencias Alimentarias , Factores de Edad , Índice de Masa Corporal , Niño , Conducta de Elección , Femenino , Humanos , Masculino , Factores Sexuales
8.
J Clin Nurs ; 23(21-22): 3045-56, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25453127

RESUMEN

AIMS AND OBJECTIVES: To assess psychosocial profiles of children with achondroplasia using a nationwide survey. BACKGROUND: Achondroplasia, showing short stature and disproportionately short limbs, causes physical inconvenience such as difficulty in reaching high objects. It is, however, still controversial whether the condition is associated with psychological problems, especially in childhood. DESIGN: A cross-sectional descriptive design was employed. METHODS: To evaluate psychosocial profiles and adaptation processes in children with achondroplasia, we developed an inventory of scales based on the psychological stress model of which conceptual framework was comprised of stressor, coping process, coping resource and adaptation outcome domains. Participants were recruited nationwide through the largest advocacy support group for achondroplasia in Japan. Of the 130 group members, 73 X-ray-diagnosed patients, aged 8-18 years, completed the inventory of questionnaires to be analysed. RESULTS: As for the stressor domain, patients experienced short stature-related unpleasant experiences more frequently (z-score: +1·3 in average, +3·9 in physical inconvenience). Nevertheless, these experiences had little effect on the coping process (threat appraisal: -0·2, control appraisal: +0·1) and the adaptation outcome (stress response: +0·3, self-concept: 0·0). Interestingly, self-efficacy in the coping resource domain was noticeably increased (+3·1) and was strongly correlated with most variables in the coping process and in adaptation outcome domains. CONCLUSIONS: Although the children with achondroplasia experienced more short stature-related stressors, there was no evidence of any psychosocial maladaptation. This finding suggests that coping process as well as coping resources such as self-efficacy could be important targets for promoting psychological adjustment in children with achondroplasia. RELEVANCE TO CLINICAL PRACTICE: To help children with achondroplasia adapt socially, nurses and other healthcare providers should routinely assess their psychological adaptation process, especially cognitive appraisal and self-efficacy.


Asunto(s)
Acondroplasia/psicología , Adaptación Psicológica , Estrés Psicológico , Acondroplasia/enfermería , Adolescente , Niño , Estudios Transversales , Femenino , Humanos , Japón , Masculino , Enfermería Pediátrica , Inventario de Personalidad , Autoimagen
9.
Clin Pediatr Endocrinol ; 33(1): 27-34, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38299174

RESUMEN

Burosumab, a fully human monoclonal antibody against fibroblast growth factor 23, is mainly administered to patients with severe X-linked hypophosphatemia (XLH). However, there have been few reports on its use in relatively mild cases. In this report, we administered burosumab to two siblings with XLH who had been effectively treated with oral phosphate and active vitamin D. Both patients showed further improvement in radiographic and laboratory findings with burosumab compared with conventional treatment. Upon switching treatment, popliteal pain was reported in case 1 until her phosphorus levels normalized. This emphasizes the importance of monitoring not only rickets and calcium/phosphate metabolism but all symptoms of XLH after initiating burosumab. Notably, in cases 1 and 2, burosumab sustained catch-up growth, especially in case 1, who had not yet reached puberty. Further clinical studies are needed to determine whether burosumab improves growth and proportional abnormalities in patients with mild XLH.

10.
Yonago Acta Med ; 67(2): 93-99, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38803594

RESUMEN

Alström syndrome is a form of inherited obesity caused by a single gene abnormality and is inherited as an autosomal recessive trait. It is characterised by a variety of clinical manifestations, including progressive visual and hearing impairment, type 2 diabetes mellitus, dilated cardiomyopathy, and hepatic and renal dysfunction, in addition to obesity. Recent insights underline the pivotal involvement of the disease-associated gene (ALMS1) in cilia formation and function, leading to the classification of its clinical manifestations as a ciliopathy. This review delineates the diverse clinical indicators defining the syndrome and elucidates its pathological underpinnings.

11.
Endocr J ; 60(1): 107-12, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-22972224

RESUMEN

Leprechaunism (Donohue syndrome) is the most severe type of insulin receptor (INSR) gene anomaly with the majority of patients surviving for only 2 years. We report a surviving 2 -year-old male with leprechaunism, bearing novel compound heterozygous mutations in the INSR. The patient is a Japanese boy with acanthosis nigricans, lack of subcutaneous fat, hirsutism, thick lips, gum hypertrophy and extremely high insulin levels (6702 mU/mL). He was as having identified novel compound heterozygous mutations in INSR (p.T910M and p. E1047K). At 24 day-old, recombinant human insulin-like growth factor 1 (rh-IGF1) treatment was started because of poor weight gain. At 2 years old, the patient's serum glucose level and HbA1C value had worsened, and both a bolus of rh-IGF-1 and a subcutaneous injection of a rapid-acting insulin analog after meals, in addition to α-glycosidase inhibitor, were initiated from 2 years onward. Oxygen administration and biphasic positive airway pressure treatment were also initiated from 2 years old due to upper airway obstruction with adenoidal hypertrophy. In the experiments conducted using COS7 cells homozygously transfected with the INSR mutation, T910M INSR failed to process the proreceptor and decreased insulin-stimulated tyrosine phosphorylation. E1047K INSR resulted in a complete absence of insulin-stimulated tyrosine phosphorylation. These findings suggest the near absence of INSR in this patient. We consider that the rhIGF1 treatment contributed to his long survival, but it was not able to prevent his diabetic condition. Our report provides important insights into the function of INSR, and for the treatment of leprechaunism.


Asunto(s)
Síndrome de Donohue/genética , Receptor de Insulina/genética , Preescolar , Síndrome de Donohue/tratamiento farmacológico , Humanos , Hipoglucemiantes/uso terapéutico , Lactante , Insulina de Acción Corta/uso terapéutico , Factor I del Crecimiento Similar a la Insulina/uso terapéutico , Masculino , Mutación , Proteínas Recombinantes/uso terapéutico
12.
Yonago Acta Med ; 66(1): 67-77, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36820282

RESUMEN

Background: The administration of basic life support (BLS) by bystanders is essential to improve the survival rates of patients who have experienced out-of-hospital cardiac arrest (OHCA). Although providing BLS to individuals who experience OHCA greatly improves their chances of survival, the actual implementation rate is low. Therefore, we investigated the association between bystanders' willingness to perform BLS and facilitative/obstructive factors with the objective of identifying educational methods that would improve the likelihood of bystanders performing BLS should they encounter a patient with OHCA. Methods: The study participants included 502 male and 498 female Japanese residents (total, 1000 participants) with no experience in performing BLS and 42 male and 59 female Japanese residents (total 101 participants) with experience in performing BLS. The participants were aged 15-65 years. Both groups graded the strength of their willingness to perform BLS in the future on a 4-point scale, as well as their level of agreement with factors facilitating or obstructing their willingness to perform BLS. These factors were established based on the theory of helping behavior, which defines psychological states when helping others in social psychology.We then analyzed the associations between willingness to perform BLS in the future and their level of agreement with factors facilitating or obstructing their willingness to perform BLS. Results: The willingness to perform BLS decreased in accordance with the increase in the level of intervention required for patients who experienced OHCA , and was significantly associated with four facilitating factors: sufficient ability and experience to perform BLS, personal advantage, high personal norms, and psychological closeness to the patient. Conclusion: Our results suggested that workshops and other educational activities focused on these facilitative factors may be helpful in increasing the rate at which bystanders perform BLS.

13.
Yonago Acta Med ; 66(1): 120-128, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36820297

RESUMEN

Background: Survival rates increase when basic life support (BLS) is provided by bystanders to patients with acute diseases, such as out-of-hospital cardiac arrest; however, its implementation rate is not high. In this study, we investigated "interest on BLS," "knowledge on BLS," and "experience on BLS" as factors related to the willingness to implement BLS among junior high school, high school, and college students who have multiple opportunities to learn it. Methods: This is an observational study using a questionnaire survey. The participants were 112 junior high school students, 114 high school students, and 109 university students (non-medical), totaling 294 (87.8% response rate). The questionnaire listed three items on the strength of willingness to perform BLS, three items on attributes of the participant, four items on the score of interest on BLS, one item on the score of knowledge on BLS, and two items on the score of experience on BLS. Results: Among junior high school students, the factors that were significantly associated with the willingness to perform BLS were "Presence of someone who died" and "Interest on BLS" score. Among high school and college students, the factors that were significantly associated with the willingness to perform BLS were "Interest on BLS" and "Knowledge on BLS" scores. Conclusion: For junior high school students, creating an environment in which they can visualize the actual situation may increase their interest, whereas for high school and university students, in addition to such an environment, conducting seminars of short duration may help them to consolidate their knowledge and increase their willingness to implement BLS.

14.
Clin Endocrinol (Oxf) ; 77(2): 246-54, 2012 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22309212

RESUMEN

BACKGROUND: IGFs play key roles in intrauterine and postnatal growth through the IGF-I receptor (IGF-IR). We identified a family bearing a new heterozygous missense mutation at the L2 domain of IGF-IR (R431L). METHOD: We analysed the nucleotide sequences of the IGF1R gene of the family. We prepared R(-) cells (fibroblasts with targeted disruption of the IGF-IR gene) expressing wild-type or R431L IGF-IR and performed functional analyses by evaluating IGF-I binding, IGF-I-stimulated DNA synthesis, tyrosine phosphorylation of IGF-IR and its substrates, and internalization by measuring [(125) I]IGF-I internalization. We also performed confocal microscopy analysis. RESULTS: We identified a family bearing a new heterozygous missense mutation at the L2 domain of IGF-IR (R431L) through an 8-year-old girl and her mother, both born with intrauterine growth retardation. In experiments conducted using cells homozygously transfected with the IGF-IR R431L mutation; (i) IGF-I binding was not affected; (ii) DNA synthesis induced by IGF-I was decreased; (iii) IGF-IR internalization stimulated by IGF-I was decreased and (iv) IGF-I-stimulated tyrosine phosphorylation was reduced IGF-IR by low concentrations of IGF-I and on insulin receptor substrate (IRS)-1 and IRS-2. CONCLUSION: A missense mutation (R431L) leads to the inhibition of cell proliferation, attenuation of IGF signalling and decrease in internalization of IGF-IR. The results of this study suggest a novel link between a mutation at the IGF-IR L2 domain and intrauterine and postnatal growth retardation.


Asunto(s)
Retardo del Crecimiento Fetal/genética , Trastornos del Crecimiento/genética , Receptor IGF Tipo 1/genética , Animales , Línea Celular , Proliferación Celular , Niño , Femenino , Predisposición Genética a la Enfermedad/genética , Humanos , Immunoblotting , Factor I del Crecimiento Similar a la Insulina/metabolismo , Ratones , Microscopía Confocal , Mutación Missense , Fosforilación , Receptor IGF Tipo 1/metabolismo
15.
Pediatr Diabetes ; 13(1): 33-44, 2012 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-22128760

RESUMEN

OBJECTIVE: To determine the HLA-DRB1, DQB1, DPB1, A, C, and B genotypes among Japanese children with autoimmune type 1 diabetes. METHODS: Four hundred and thirty patients who were GADAb and/or IA-2Ab-positive (Type 1A) were recruited from 37 medical centers as part of a nationwide multicenter collaborative study. DNA samples from 83 siblings of the children with Type 1A diabetes and 149 parent-child trios were also analyzed. A case-control study and a transmission disequilibrium test (TDT) were then performed. RESULTS: The susceptible and protective DRB1 and DQB1 alleles and haplotypes were confirmed. DPB1 alleles unique to the Japanese population and those common to multiple ethnic groups were also present. A linkage disequilibrium (LD) analysis showed both susceptible and protective haplotypes. The TDT did not reveal any alleles that were transmitted preferentially from the mother or father to children with Type 1A. Homozygosity for DRB1-09:01-DQB1-03:03 and heterozygosity for DRB1-04:05-DQB1-04:01 and DRB1-08:02-DQB1-03:02 were associated with an extremely high risk of Type 1A. A comparison of children with Type 1A and their parents and siblings suggested a dose effect of susceptible DRB1-DQB1 haplotypes and an effect of protective alleles on immunological pathogenesis. DRB1-09:01 appeared to be strongly associated with an early onset in preschool children with Type 1A diabetes. CONCLUSIONS: This study demonstrated the characteristic association of HLA-class II and class I genes with Type 1A diabetes among Japanese children. A TDT did not reveal the genomic imprinting of HLA-class II and class I genes in Type 1A diabetes.


Asunto(s)
Pueblo Asiatico/genética , Diabetes Mellitus Tipo 1/genética , Familia , Genes MHC Clase II/genética , Genes MHC Clase I/genética , Adolescente , Pueblo Asiatico/estadística & datos numéricos , Niño , Preescolar , Análisis Mutacional de ADN , Diabetes Mellitus Tipo 1/clasificación , Diabetes Mellitus Tipo 1/etnología , Femenino , Genotipo , Humanos , Lactante , Recién Nacido , Masculino
16.
Pediatr Int ; 54(5): 720-4, 2012 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23005908

RESUMEN

We report a 14-year-old boy with Castleman disease in this article. He complained of short stature, and his body height was 133.8 cm (<3rd percentile; z score -4.5). There was marked delay in the appearance of secondary sexual characteristics. He was found to have a remittent fever and a lower mid-abdominal tumor. Blood test revealed microcytic hypochromic anemia, thrombocytosis, polyclonal hypergammaglobulinemia, hyperfibrinogenemia, and elevated erythrocyte sedimentation rate. The serum IL-6 and C-reactive protein levels were increased. The mass was found to be mixed hyaline vascular and plasma cell type of Castleman disease through a pathological examination. Lymph nodes affected by Castleman disease cause overproduction of IL-6. It decreases IGF-1, IGFBP-3 and serum testosterone levels. As a result of tumorectomy, his short stature and delay in the development of secondary sexual characteristics were improved.


Asunto(s)
Enfermedad de Castleman/complicaciones , Enanismo/etiología , Ganglios Linfáticos/patología , Pubertad Tardía/etiología , Adolescente , Enfermedad de Castleman/diagnóstico , Enfermedad de Castleman/patología , Humanos , Ganglios Linfáticos/metabolismo , Masculino
17.
Yonago Acta Med ; 65(4): 303-314, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-36474901

RESUMEN

Background: Diabetes self-management education through peer support has beneficial effects, especially in regions with limited medical resources. To ensure peer educators continue to provide peer-led education programs, it is important that they remain motivated to instruct patients. Here, to explore measures to enhance peer-educators' motivation toward such programs, we examined the cognitive and emotional changes in Filipino type 2 diabetics after 7-month activities as peer educators. Methods: We individually performed semi-structured interviews with 13 peer educators with 20 years of age or above in August 2017 (immediately before starting their peer-education activities) and in March 2018 (7 months after the start). The first interview was performed after the peer educators had received 2-day training of diabetes self-management. In both interviews, we asked the peer educators about their feelings toward peer-led educational activities (e.g., satisfaction, difficulty, reward, confidence, and challenges). Their replies about their own cognition and emotions were interpreted and integrated, and then analyzed qualitatively. Results: Four and seven categories were extracted from the first and second interviews, respectively. The category "Cognition of patients' active learning attitudes and of positive changes in patients' physical conditions and behavior" observed in the second interview led to "Cognition of growth as a peer educator" and "Satisfaction with supporting patients as a peer educator." These two feelings gave the peer educators' "Increased motivation to continue the activities as a peer educator." This motivation was also associated with "Active collaboration among peer educators," which was affected by "Difficulties and concerns in working as a peer educator." Conclusion: To sustain diabetic peer-led education programs, we suggest that interventions be implemented that increase peer educators' motivation toward their activities and stimulate their awareness of the importance of collaborating with one another. Such collaboration should help to overcome the difficulties they may face in providing peer-led education.

18.
Diabetes ; 70(8): 1874-1884, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-34074726

RESUMEN

We previously reported genotype-phenotype correlations in 12 missense variants causing severe insulin resistance, located in the second and third fibronectin type III (FnIII) domains of the insulin receptor (INSR), containing the α-ß cleavage and part of insulin-binding sites. This study aimed to identify genotype-phenotype correlations in FnIII domain variants of IGF1R, a structurally related homolog of INSR, which may be associated with growth retardation, using the recently reported crystal structures of IGF1R. A structural bioinformatics analysis of five previously reported disease-associated heterozygous missense variants and a likely benign variant in the FnIII domains of IGF1R predicted that the disease-associated variants would severely impair the hydrophobic core formation and stability of the FnIII domains or affect the α-ß cleavage site, while the likely benign variant would not affect the folding of the domains. A functional analysis of these variants in CHO cells showed impaired receptor processing and autophosphorylation in cells expressing the disease-associated variants but not in those expressing the wild-type form or the likely benign variant. These results demonstrated genotype-phenotype correlations in the FnIII domain variants of IGF1R, which are presumably consistent with those of INSR and would help in the early diagnosis of patients with disease-associated IGF1R variants.


Asunto(s)
Antígenos CD/genética , Estatura/genética , Trastornos del Crecimiento/genética , Receptor IGF Tipo 1/genética , Receptor de Insulina/genética , Animales , Antígenos CD/metabolismo , Células CHO , Cricetinae , Cricetulus , Estudios de Asociación Genética , Humanos , Resistencia a la Insulina/genética , Mutación Missense , Fenotipo , Receptor IGF Tipo 1/metabolismo , Receptor de Insulina/metabolismo , Estudios Retrospectivos
19.
Yonago Acta Med ; 63(4): 282-293, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-33253342

RESUMEN

BACKGROUND: Training peer leaders to deliver patient education is expected to be a low-cost approach to providing healthcare in urban-poor areas affected by a shortage of healthcare professionals. The purpose of this study was to examine the effects of a training program on the self-efficacy and knowledge of peer leaders with type 2 diabetes. METHODS: A single-group longitudinal survey with baseline, intervention, and follow-up periods was conducted at a diabetes clinic in a small municipality in Metro Manila, Philippines. The intervention, a self-efficacy theory-based training program for peer-leaders of diabetic patients conducted in August 2017, comprised hands-on learning, demonstrations, quizzes, role-playing, group sharing, physical exercise, and a buffet lunch. The primary outcome was participants' self-efficacy for management of their diabetes. Secondary outcomes were participants' knowledge of diabetes and levels of emotional distress, motivation, and confidence for guiding their peers, satisfaction with the training program, hemoglobin A1c, and quality of life. RESULTS: At 12 and 18 months after the intervention, participants' knowledge of diabetes was significantly increased compared with baseline (both P < 0.05). At earlier time points, an increasing, but not significant, trend was observed. The change in knowledge of diabetes from baseline to 18 months after intervention tended to be positively correlated with the change in self-efficacy (r = 0.594, P = 0.054). No significant differences were observed for any of the other outcomes, although the descriptive statistics showed an increasing trend for all of the outcomes except motivation. CONCLUSION: The training program significantly improved participants' knowledge of diabetes at 12 and 18 months after the training programs compared with baseline. A positive correlation between the changes in the levels of knowledge and self-efficacy suggested that the observed improvement of self-efficacy was facilitated by the improvement of knowledge of diabetes.

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