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2.
J Med Internet Res ; 25: e45407, 2023 08 17.
Artículo en Inglés | MEDLINE | ID: mdl-37590040

RESUMEN

BACKGROUND: Advancements in mobile health technologies and machine learning approaches have expanded the framework of behavioral phenotypes in obesity treatment to explore the dynamics of temporal changes. OBJECTIVE: This study aimed to investigate the dynamics of behavioral changes during obesity intervention and identify behavioral phenotypes associated with weight change using a hybrid machine learning approach. METHODS: In total, 88 children and adolescents (ages 8-16 years; 62/88, 71% male) with age- and sex-specific BMI ≥85th percentile participated in the study. Behavioral phenotypes were identified using a hybrid 2-stage procedure based on the temporal dynamics of adherence to the 5 behavioral goals during the intervention. Functional principal component analysis was used to determine behavioral phenotypes by extracting principal component factors from the functional data of each participant. Elastic net regression was used to investigate the association between behavioral phenotypes and weight change. RESULTS: Functional principal component analysis identified 2 distinctive behavioral phenotypes, which were named the high or low adherence level and late or early behavior change. The first phenotype explained 47% to 69% of each factor, whereas the second phenotype explained 11% to 17% of the total behavioral dynamics. High or low adherence level was associated with weight change for adherence to screen time (ß=-.0766, 95% CI -.1245 to -.0312), fruit and vegetable intake (ß=.1770, 95% CI .0642-.2561), exercise (ß=-.0711, 95% CI -.0892 to -.0363), drinking water (ß=-.0203, 95% CI -.0218 to -.0123), and sleep duration. Late or early behavioral changes were significantly associated with weight loss for changes in screen time (ß=.0440, 95% CI .0186-.0550), fruit and vegetable intake (ß=-.1177, 95% CI -.1441 to -.0680), and sleep duration (ß=-.0991, 95% CI -.1254 to -.0597). CONCLUSIONS: Overall level of adherence, or the high or low adherence level, and a gradual improvement or deterioration in health-related behaviors, or the late or early behavior change, were differently associated with weight loss for distinctive obesity-related lifestyle behaviors. A large proportion of health-related behaviors remained stable throughout the intervention, which indicates that health care professionals should closely monitor changes made during the early stages of the intervention. TRIAL REGISTRATION: Clinical Research Information Science KCT0004137; https://tinyurl.com/ytxr83ay.


Asunto(s)
Obesidad Infantil , Niño , Masculino , Femenino , Humanos , Obesidad Infantil/terapia , Conductas Relacionadas con la Salud , Tecnología Biomédica , Fenotipo , Evaluación de Resultado en la Atención de Salud
3.
J Korean Med Sci ; 37(12): e103, 2022 Mar 28.
Artículo en Inglés | MEDLINE | ID: mdl-35347907

RESUMEN

BACKGROUND: The coronavirus disease pandemic is predicted to have adverse health effects on children and adolescents who are overweight or obese due to restricted school activity and stay-at-home orders. The purpose of this observational study was to determine the factors associated with weight gain in children and adolescents with overweight and obesity during coronavirus disease 2019 (COVID-19) lockdown. METHODS: Ninety-seven participants (sex- and age-specific body mass index (BMI) ≥ 85th percentile) were included. A baseline examination was conducted pre-COVID-19 (August 2019 to January 2020), and re-examination was performed post-lockdown (June to September 2020) and the results were compared. Correlation and regression analyses were conducted to investigate the association among changes in cardiometabolic markers and lifestyle behaviors with changes in BMI z-score. RESULTS: During the COVID-19 pandemic, an increase in BMI z-score (2.56 [2.01-2.94] to 2.62 [2.03-3.18]) was noticed in children and adolescents with obesity. Changes in cardiometabolic markers including liver enzymes, triglycerides (r = 0.398), leptin (r = 0.578), and adiponectin (r = -0.326), as well as muscular strength (r = -0.212), were correlated with the increase in BMI z-score. According to a multivariate regression analysis, changes in sedentary time (B = 0.016; 95% confidence interval [CI], 0.001-0.032) and fast-food consumption (B = 0.067; 95% CI, 0.013-0.122) were the lifestyle variables associated with BMI z-score increase. CONCLUSION: Changes in lifestyle behaviors including fast-food consumption and sedentary time during the COVID-19 pandemic may be associated with weight gain. In order to prevent health-related risks in children and adolescents with obesity during the pandemic, it is important to maintain the level of physical activity and healthy dietary habits.


Asunto(s)
COVID-19 , Adolescente , COVID-19/epidemiología , Niño , Control de Enfermedades Transmisibles , Humanos , Obesidad/complicaciones , Obesidad/epidemiología , Sobrepeso/epidemiología , Pandemias , Conducta Sedentaria , Aumento de Peso
4.
Endocr Pract ; 27(10): 983-991, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34144210

RESUMEN

OBJECTIVE: To analyze the relationship between body composition, metabolic parameters, and bone mineral density (BMD) according to sex and the degree of obesity in children and adolescents. METHODS: A total of 236 subjects with obesity, aged 10 to 15 years (36.9% girls), were enrolled. Obesity was classified into simple (SmOb) and extreme (ExOb) forms. The BMD of the total body, less head, was measured by dual energy x-ray absorptiometry, and the BMD z-score was used to evaluate the relationship of body composition with metabolic parameters. RESULTS: BMD z-scores were higher in subjects with ExOb than in those with SmOb. Lean mass index (LMI), body mass index z-score, and vitamin D intake showed positive relationships, whereas percentage of body fat and serum leptin level showed negative relationships with BMD z-scores in boys. In girls, LMI and body mass index z-score showed positive relationships with BMD z-scores. In multivariable linear regressions, serum leptin level showed negative relationships with BMD z-score, only in boys. In addition, positive relationships of LMI and negative relationships of percentage of body fat with BMD z-scores were observed in subjects with SmOb. However, positive relationships of LMI with BMD z-scores were attenuated in subjects with ExOb. CONCLUSION: High BMD appears to be positively associated with lean mass in children and adolescents with obesity, which might be a natural protective mechanism to withstand the excess weight. However, excessive body fat appears to be negatively associated with BMD, which might attenuate the positive relationship between lean mass and BMD in subjects with ExOb.


Asunto(s)
Densidad Ósea , Obesidad Infantil , Absorciometría de Fotón , Adolescente , Composición Corporal , Índice de Masa Corporal , Niño , Femenino , Humanos , Masculino , Obesidad Infantil/epidemiología
5.
J Med Genet ; 57(2): 124-131, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31649052

RESUMEN

BACKGROUND: Ambroxol (ABX) has been suggested as an augmentative pharmacological agent for neuronopathic Gaucher disease (nGD). This study assessed the long-term safety and efficacy of combined therapy with high-dose ABX and enzyme replacement therapy (ERT) in nGD. METHODS: ABX+ERT therapy was administered for 4.5 years in four patients with nGD. ABX was initiated at a dose of 1.5 mg/kg/day, and the dose was escalated up to 27 mg/kg/day. The target plasma level was 10 µmol/L or less. The changes in glucocerebrosidase activity, biochemical, safety and neurocognitive findings were assessed. RESULTS: Enhanced residual GCcase activity was observed in all patients, as evidenced in both in vitro and in vivo studies. During the first 2 years of study with ABX (up to 21 mg/kg/day), mean seizure frequencies and neurocognitive function worsened. After ABX dosage was increased up to 27 mg/kg/day of ABX, its trough plasma concentration was 3.2-8.8 µmol/L. Drug-to-drug interaction, especially with antiepileptic drug significantly affected the pharmacokinetic parameters of ABX. Importantly, at 27 mg/kg/day of ABX, the seizure frequencies markedly decreased from the baseline, and the neurocognitive function was improved. In addition, Lyso-Gb1, a biomarker for the severity and progression of GD, was normalised in all patients. High-dose ABX was well-tolerated with no severe adverse events. CONCLUSIONS: Long-term treatment with high-dose ABX+ERT was safe and might help to arrest the progression of the neurological manifestations in GD.


Asunto(s)
Ambroxol/administración & dosificación , Terapia de Reemplazo Enzimático , Epilepsias Mioclónicas/tratamiento farmacológico , Enfermedad de Gaucher/tratamiento farmacológico , Adolescente , Biomarcadores/sangre , Niño , Relación Dosis-Respuesta a Droga , Epilepsias Mioclónicas/sangre , Epilepsias Mioclónicas/patología , Femenino , Enfermedad de Gaucher/sangre , Enfermedad de Gaucher/patología , Glucosilceramidasa/sangre , Humanos , Masculino
6.
J Hum Genet ; 65(2): 79-89, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31776437

RESUMEN

Neurofibromatosis type 1 (NF1) is caused by heterozygous mutation in the NF1 gene. NF1 is one of the most common human genetic diseases. However, the overall genotype-phenotype correlation has not been known, due to a wide spectrum of genotypic and phenotypic heterogeneity. Here we describe the detailed clinical and genetic features of 427 Korean NF1 patients from 389 unrelated families. Long range PCR and sequencing of genomic DNA with multiplex ligation-dependent probe amplification analysis identified 250 different NF1 mutations in 363 families (93%), including 94 novel mutations. With an emphasis on phenotypes requiring medical attention (classified and termed: NF1+), we investigated the correlation of NF1+ and mutation types. NF1+ was more prevalent in patients with truncating/splicing mutations and large deletions than in those with missense mutations (59.6%, 64.3% vs. 36.6%, p = 0.001). This difference was especially significant in the patients younger than age 19 years. The number of items in NF1+ was a higher in the former groups (0.95 ± 0.06, 1.18 ± 0.20 vs. 0.56 ± 0.10, p = 0.002). These results suggest that mutation types are associated not only with higher prevalence of severe phenotypes in NF1 but also with their earlier onset.


Asunto(s)
Estudios de Asociación Genética , Neurofibromatosis 1/genética , Neurofibromina 1/genética , Adolescente , Adulto , Anciano , Niño , Preescolar , Estudios de Cohortes , Análisis Mutacional de ADN , Femenino , Genotipo , Heterocigoto , Humanos , Lactante , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa Multiplex , Mutación , Fenotipo , Adulto Joven
7.
J Med Genet ; 55(9): 587-593, 2018 09.
Artículo en Inglés | MEDLINE | ID: mdl-29618506

RESUMEN

BACKGROUND: To identify biochemical and genetic features that characterise neurological Wilson disease as a distinct disease subgroup. METHODS: Detailed biochemical profiles and genotypic characteristics of neurological (86 patients) and hepatic subgroups (233 patients) from 368 unrelated Korean families were analysed. RESULTS: Compared with patients in the hepatic subgroup, patients in the neurological subgroup had a later age at onset, a higher proportion with Kayser-Fleischer rings and higher serum creatinine levels, and a lower proportion with favourable outcome (62% vs 80%, P<0.016). At diagnosis, the neurological subgroup had lower serum ceruloplasmin (3.1±2.1 mg/dL vs 4.2±3.2 mg/dL, P<0.001), total copper (26.4±13.8 µg/dL vs 35.8±42.4 µg/dL, P=0.005), free copper (17.2±12.5 µg/dL vs 23.5±38.2 µg/dL, P=0.038) and urinary copper (280.9±162.9 µg/day vs 611.1±1124.2 µg/day, P<0.001) levels. Serum aspartate aminotransferase, alanine aminotransferase, gamma glutamyltransferase and total bilirubin levels, as well as prothrombin time, were also lower in the neurological subgroup. Liver cirrhosis was more common but mostly compensated in the neurological subgroup. Frameshift, nonsense or splice-site ATP7B mutations and mutations in transduction or ATP hinge domains (2.4% vs 23.1%, P=0.006) were less common in the neurological subgroup. CONCLUSION: The neurological subgroup had distinct clinical, biochemical and genetic profiles. Further studies are required to identify the factors, with or without association with copper metabolism, underlying the neurological presentation for which treatment needs to be targeted to improve the clinical outcome of this subgroup.


Asunto(s)
ATPasas Transportadoras de Cobre/genética , Cobre/metabolismo , Degeneración Hepatolenticular/metabolismo , Mutación , Adolescente , Adulto , Edad de Inicio , Pueblo Asiatico , Encefalopatías/metabolismo , Ceruloplasmina/análisis , Niño , Preescolar , Cobre/sangre , Cobre/orina , ATPasas Transportadoras de Cobre/metabolismo , Creatinina/sangre , Femenino , Degeneración Hepatolenticular/enzimología , Degeneración Hepatolenticular/genética , Humanos , Masculino , Adulto Joven
8.
BMC Med Genet ; 19(1): 35, 2018 03 05.
Artículo en Inglés | MEDLINE | ID: mdl-29506479

RESUMEN

BACKGROUND: Adrenal hypoplasia is a rare congenital disorder, which can be classified into a non-syndromic form, without extra-adrenal features, and a syndromic form, with such features. Despite biochemical and molecular genetic evaluation, etiologic diagnosis cannot be performed in many patients with adrenal hypoplasia. CASE PRESENTATION: The patient in this case was a boy born at 31 weeks of gestation with a weight of 882 g (< 3rd percentile) to non-consanguineous parents. Genital examination showed micropenis and bilateral cryptorchidism. On the third day of life, he manifested hypotension with high urine output, hyponatremia, hyperkalemia, hypernatriuria, high plasma adrenocorticotropic hormone level, and high plasma renin activity, suggesting acute adrenal insufficiency. The serum 17α-hydroxyprogesterone level was normal. Adrenal insufficiency improved following administration of hydrocortisone and 9α-fludrocortisone, but the patient died of recurrent infection at 4 months of age. He was suspected as IMAGE (Intrauterine growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) syndrome. However, no mutation in CDKN1C was identified. Targeted exome sequencing using the TruSight One Sequencing Panel (Illumina) identified a heterozygous mutation of c.2944C > T (p.R982C) in exon 3 in SAMD9. CONCLUSION: This report describes the first Korean case of MIRAGE syndrome. The patient presented with severe primary adrenal insufficiency, intrauterine growth retardation, and recurrent infection. SAMD9 mutation should be considered in patients who present with adrenal hypoplasia and extra-adrenal phenotypes.


Asunto(s)
Insuficiencia Suprarrenal/diagnóstico , Insuficiencia Suprarrenal/genética , Secuenciación del Exoma , Retardo del Crecimiento Fetal/diagnóstico , Retardo del Crecimiento Fetal/genética , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Anomalías Urogenitales/diagnóstico , Anomalías Urogenitales/genética , 17-alfa-Hidroxiprogesterona/sangre , Hormona Adrenocorticotrópica/sangre , Pueblo Asiatico/genética , Criptorquidismo/diagnóstico , Criptorquidismo/genética , Inhibidor p57 de las Quinasas Dependientes de la Ciclina/genética , Exones , Enfermedades de los Genitales Masculinos/diagnóstico , Enfermedades de los Genitales Masculinos/genética , Humanos , Hidrocortisona/uso terapéutico , Recién Nacido , Péptidos y Proteínas de Señalización Intracelular , Masculino , Mutación , Pene/anomalías , Proteínas/genética , Renina/sangre
9.
J Hum Genet ; 63(3): 383-386, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-29235540

RESUMEN

Over 100 types of congenital disorders of glycosylation (CDG) have been reported and the number is rapidly increasing. However, each type is very rare and is problematic to diagnose. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG (CDG type IIb) is an extremely rare CDG that has only been reported in three patients from two unrelated families. Using targeted exome sequencing, we identified another patient affected by this condition. This patient had increased serum trisialotransferrin levels. Importantly, a review of the features of all four patients revealed the recognizable clinical hallmarks of MOGS-CDG. The distinct dysmorphic features of this condition include long eyelashes, retrognathia, hirsutism, clenched overlapped fingers, hypoventilation, hepatomegaly, generalized edema, and immunodeficiency.


Asunto(s)
Trastornos Congénitos de Glicosilación/diagnóstico , Trastornos Congénitos de Glicosilación/genética , Estudios de Asociación Genética , Fenotipo , Alelos , Sustitución de Aminoácidos , Biomarcadores , Trastornos Congénitos de Glicosilación/metabolismo , ADN Mitocondrial , Genotipo , Humanos , Lactante , Cariotipo , Masculino , Mutación , Secuenciación del Exoma , alfa-Glucosidasas/genética
10.
J Hum Genet ; 63(8): 911-917, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-29773863

RESUMEN

Argininosuccinic aciduria (ASA), which is considered to be the second most common urea cycle disorder (UCD), is caused by an argininosuccinate lyase deficiency and is biochemically characterized by elevation of argininosuccinic acid and arginine deficiency. In addition to hyperammonemia, other characteristic features of ASA include hepatic fibrosis, hypertension, neurocognitive deficiencies, and trichorrhexis nodosa. Herein, we retrospectively reviewed the clinical findings, biochemical profiles, and genotypic characteristics of five Korean patients with ASA, who showed typical phenotypes and biochemical findings of the disease. Molecular analysis of these patients revealed six novel ASL mutations. Next, we investigated the prevalence of all types of UCDs in Korea. Of note, over a two decade periods, ASA was only detected in 6.3% of patients with a UCD, which made it the fourth most common UCD in Korea. In comparison with Caucasians, in whom ASA is the second most common UCD, ASA is comparatively rare in East Asian populations, including Japanese and Koreans. These findings suggest the possibility of geographic variation in UCDs among ethnic groups.


Asunto(s)
Aciduria Argininosuccínica/epidemiología , Aciduria Argininosuccínica/genética , Trastornos Innatos del Ciclo de la Urea/epidemiología , Trastornos Innatos del Ciclo de la Urea/genética , Análisis Mutacional de ADN , Progresión de la Enfermedad , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Prevalencia , República de Corea/epidemiología
11.
J Neurooncol ; 138(1): 55-62, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-29352447

RESUMEN

As survival rates have improved owing to advances in management strategies for pediatric brain tumors, long-term complications such as endocrine dysfunction, have emerged as a major issue. This study investigated the long-term endocrine effects of childhood-onset brain tumors in a large number of patients. This study included 151 patients with brain tumors diagnosed between January 1995 and December 2016. The following data were retrospectively reviewed: tumor location, tumor histology, endocrine abnormalities, hypothalamic involvement on brain imaging, treatment modalities, and trends in body mass index. The mean age at diagnosis of patients with sellar/suprasellar (SE/SUP-SE) tumors and supra/infratentorial (ST/IT) tumors was 9.9 ± 4.5 and 6.5 ± 4.2 years, respectively. In patient with prepubertal age at diagnosis, height standard deviation score was lower in patients with SE/SUP-SE tumors at diagnosis (P = 0.031), which was lower in patients with ST/IT tumors at the final visit (P < 0.001). The prevalence of combined pituitary hormone deficiencies was higher among patients with SE/SUP-SE tumors than in those with ST/IT tumors (81.7 vs. 36.1%, P < 0.001). Among 98 non-obese patients with SE/SUP-SE tumors, 36.7% developed obesity. The prevalence of combined pituitary hormone deficiencies and obesity was higher in patients with SE/SUP-SE tumors than in those with tumors in other locations; growth impairment was more severe in patients with ST/IT tumors.


Asunto(s)
Índice de Masa Corporal , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/patología , Enfermedades del Sistema Endocrino/etiología , Adolescente , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Estudios Retrospectivos
12.
J Med Genet ; 54(11): 771-780, 2017 11.
Artículo en Inglés | MEDLINE | ID: mdl-28835480

RESUMEN

BACKGROUND: Fabry disease is characterised by the progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in vascular endothelial cells. Enzyme replacement therapy (ERT) clears this accumulation. We analysed plasma proteome profiles before and after ERT to characterise its molecular pathology. METHODS: Two-dimensional electrophoresis and matrix-assisted laser desorption/ionisation-time of flight tandem mass spectrometry (MALDI-TOF MS) and tandem mass spectrometry (MS/MS) were done using plasma samples before and after ERT in eight patients with classical Fabry disease RESULTS: After short-term ERT (4-12 months), the levels of 15 plasma proteins involved in inflammation, oxidative and ischaemic injury, or complement activation were reduced significantly. Among them, ß-actin (ACTB), inactivated complement C3b (iC3b), and C4B were elevated significantly in pre-ERT Fabry disease plasma compared with control plasma. After longer-term ERT (46-96 months), iC3b levels gradually decreased, whereas the levels of other proteins varied. The gradual reduction of iC3b was comparable to that of Gb3 levels. In addition, iC3b increased significantly in pre-ERT Fabry disease mouse plasma, and C3 deposits were notable in renal tissues of pre-enzyme replacement therapy patients. CONCLUSION: These results indicated that C3-mediated complement activation might be altered in Fabry disease and ERT might promote its stabilisation.


Asunto(s)
Proteínas Sanguíneas/metabolismo , Terapia de Reemplazo Enzimático , Enfermedad de Fabry/tratamiento farmacológico , Plasma/química , Adolescente , Adulto , Animales , Biomarcadores/sangre , Niño , Enfermedad de Fabry/enzimología , Enfermedad de Fabry/metabolismo , Humanos , Ratones , Ratones Endogámicos C57BL , Ratones Noqueados , Persona de Mediana Edad , Proteómica , Trihexosilceramidas/sangre
13.
Scand J Med Sci Sports ; 28(10): 2207-2215, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-29938849

RESUMEN

This study aimed to validate body composition analysis using bioelectrical impedance analysis (BIA) against dual-energy X-ray absorptiometry (DXA) in children with obesity and to compare agreement between BIA and DXA according to their degree of obesity. Three hundred and sixteen children aged 6-17 years participated in the Intervention for Childhood and Adolescents Obesity via Activity and Nutrition study. We divided participants by body mass index (BMI) percentile (group 1: mild to moderate obesity; group 2: severe obesity) and compared body composition variables, eg, percentage of body fat (%BF), fat mass (FM), and fat-free mass (FFM) using BIA and DXA. The %BF and FM of BIA were significantly lower (-1.8% and -0.8 kg, respectively), and the FFM of BIA was significantly higher (1.4 kg) than those of DXA. There were significant negative relationships between the absolute value of differences from BIA and DXA and BMI z-scores in %BF, FM, and FFM (regression coefficient [ß]: -1.39, 95% confidence interval [CI]: -1.81 to -0.97; ß: -0.34, 95%CI: -0.61 to -0.06; ß: -0.73, 95%CI: -1.03 to -0.44, respectively). The gap of body compositions between BIA and DXA decreased as participants became more obese, and the differences of FM in boys with severe obesity and the differences of %BF and FFM in girls with severe obesity were much less than those in children with mild to moderate obesity. In conclusion, the agreement between DXA and BIA was better for children with severe obesity than for children with mild to moderate obesity.


Asunto(s)
Composición Corporal , Impedancia Eléctrica , Obesidad Mórbida/fisiopatología , Obesidad Infantil/fisiopatología , Absorciometría de Fotón , Adiposidad , Adolescente , Índice de Masa Corporal , Niño , Femenino , Humanos , Masculino
14.
Endocr J ; 65(3): 307-315, 2018 Mar 28.
Artículo en Inglés | MEDLINE | ID: mdl-29279457

RESUMEN

Prolactinoma is a benign tumor of the pituitary gland that rarely occurs in children and adolescents; thus, the clinical spectrum and long-term prognosis in these patients remain unknown. This study was performed to investigate the long-term outcomes of medical treatment and the prognostic factors for remission and relapse in children and adolescents with prolactinoma. Three male subjects and four female subjects between the ages of 7- and 17-years-old were included in this study. The mean initial serum prolactin level was 443 ± 251.8 ng/mL (range, 152-946 ng/mL). During the follow-up period (range, 0.6-20 years), a dopamine agonist was administered, and surgery or radiotherapy was performed in cases of resistance to medical treatment or relapse. Unlike female subjects with macroadenoma who often exhibit a good clinical course, two male subjects with early onset macroadenoma presented with visual disturbances. These subjects showed resistance to medical therapy and relapsed, eventually requiring surgical removal and radiotherapy; one of the subjects manifested a metastatic thrombus in the internal jugular vein. In conclusion, pediatric prolactinoma exhibits a broad clinical spectrum, a relatively high incidence of macroadenoma, resistance to medical therapy, and frequent tumor relapses. In addition, a poor prognosis appears to be correlated with male sex, age at disease onset, and histopathological characteristics.


Asunto(s)
Agonistas de Dopamina/uso terapéutico , Neoplasias Hipofisarias/diagnóstico , Prolactina/sangre , Prolactinoma/diagnóstico , Adolescente , Edad de Inicio , Niño , Femenino , Humanos , Masculino , Recurrencia Local de Neoplasia , Neoplasias Hipofisarias/sangre , Neoplasias Hipofisarias/tratamiento farmacológico , Pronóstico , Estudios Retrospectivos , Factores Sexuales
15.
BMC Pediatr ; 18(1): 103, 2018 03 08.
Artículo en Inglés | MEDLINE | ID: mdl-29519241

RESUMEN

BACKGROUND: Fatty acid oxidation disorders (FAODs) include more than 15 distinct disorders with variable clinical manifestations. After the introduction of newborn screening using tandem mass spectrometry, early identification of FAODs became feasible. This study describes the clinical, biochemical and molecular characteristics of FAODs patients detected by newborn screening (NBS) compared with those of 9 patients with symptomatic presentations. METHODS: Clinical and genetic features of FAODs patients diagnosed by NBS and by symptomatic presentations were reviewed. RESULTS: Fourteen patients were diagnosed with FAODs by NBS at the age of 54.8 ± 4.8 days: 5 with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, 5 with medium chain acyl-CoA dehydrogenase (MCAD) deficiency, 1 with primary carnitine deficiency, 1 with carnitine palmitoyltransferase 1A (CPT1A) deficiency, 1 with long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein (LCAHD/MTP) deficiency, and 1 with short chain acyl-CoA dehydrogenase (SCAD) deficiency. Three patients with VLCAD or LCHAD/MTP deficiency developed recurrent rhabdomyolysis or cardiomyopathy, and one patient died of cardiomyopathy. The other 10 patients remained neurodevelopmentally normal and asymptomatic during the follow-up. In 8 patients with symptomatic presentation, FAODs manifested as LCHAD/MTP deficiencies by recurrent rhabdomyolysis or cadiomyopathy (6 patients), and VLCAD deficiency by cardiomyopathy (1 patient), and CPT1A deficiency by hepatic failure (1 patient). Two patients with LCHAD/MTP deficiencies died due to severe cardiomyopathy in the neonatal period, and developmental disability was noted in CPT1A deficiency (1 patient). CONCLUSIONS: NBS helped to identify the broad spectrum of FAODs and introduce early intervention to improve the clinical outcome of each patient. However, severe clinical manifestations developed in some patients, indicating that careful, life-long observation is warranted in all FAODs patients.


Asunto(s)
Errores Innatos del Metabolismo Lipídico/diagnóstico , Tamizaje Neonatal , Biomarcadores/metabolismo , Diagnóstico Precoz , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Errores Innatos del Metabolismo Lipídico/metabolismo , Errores Innatos del Metabolismo Lipídico/terapia , Masculino , Estudios Retrospectivos , Espectrometría de Masas en Tándem , Resultado del Tratamiento
16.
Pediatr Exerc Sci ; 30(1): 58-68, 2018 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-28556755

RESUMEN

The prevalence of childhood obesity has increased at an alarming rate. The increased obesity rate in pediatrics parallels the increased risks for developing metabolic abnormalities, such as insulin resistance, type 2 diabetes, and nonalcoholic fatty liver disease. In particular, the strong relationship between obesity and such health consequences is well explained by the excessive accumulation of depot-specific body adiposity, such as visceral adipose tissue, intrahepatic lipid content, intermuscular adipose tissue, and/or intramyocellular lipid content. Limited evidence suggests that both aerobic and resistance exercise alone, independent of weight loss, can be an effective therapeutic strategy for improving risk markers of metabolic abnormalities as well as inducing positive changes in depot-specific body adiposity in obese children and adolescents. However, the independent role of exercise alone (without calorie restriction) in body fat distribution is still unclear, and the results are less conclusive in pediatrics. In this brief review, the effects of aerobic and resistance exercise on depot-specific body adiposity changes in children and adolescents are discussed.


Asunto(s)
Adiposidad , Ejercicio Físico , Obesidad Infantil/prevención & control , Tejido Adiposo , Adolescente , Niño , Humanos , Grasa Intraabdominal , Lípidos/química , Hígado/química , Músculo Esquelético/química , Ensayos Clínicos Controlados Aleatorios como Asunto , Entrenamiento de Fuerza
17.
Mol Med ; 23: 149-154, 2017 07.
Artículo en Inglés | MEDLINE | ID: mdl-28467518

RESUMEN

Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia, caused by defects in the steroidogenic acute regulatory protein (STAR). The STAR p.Q258* mutation is the most common mutation in China, Japan, and Korea, suggesting a founder effect. This study aimed to investigate the phenotypic and mutation spectrum of STAR defects and identify a founder effect of the p.Q258* mutation in Korean patients with CLAH. For 45 patients from 42 independent pedigrees, haplotype analysis was performed in 10 unrelated trio families, including patients with the p.Q258* mutation whose DNA samples were available, using 1,972 single nucleotide polymorphism (SNP) and six short tandem repeat (STR) markers. An Illumina Infinium® Human Omni2.5-8 v1.3 performed the SNP genotyping. Among 84 alleles from 42 unrelated families, mutation p.Q258* was found in 74 alleles (88.1%) from 41 families. A shared haplotype was identified in 17 of 20 alleles from 10 patients (size, 198 kb). The age of the founder mutation was estimated as 4,875 years (95% credible set: 3,575-7,925 years) assuming an intergenerational time interval of 25 years. The STAR p.Q258* mutation is the most common in Korean patients with CLAH, suggesting a founder effect. The age of the mutation corresponded with the date when the Korean people settled in the Korean peninsula. The high prevalence of p.Q258* in Japan and China also suggests a founder effect in Asian countries.


Asunto(s)
Hiperplasia Suprarrenal Congénita/genética , Pueblo Asiatico/genética , Trastorno del Desarrollo Sexual 46,XY/genética , Fosfoproteínas/genética , Preescolar , Femenino , Efecto Fundador , Humanos , Lactante , Recién Nacido , Masculino , Mutación , Polimorfismo de Nucleótido Simple
18.
Am J Physiol Endocrinol Metab ; 305(10): E1222-9, 2013 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-24045865

RESUMEN

It is unclear whether regular exercise alone (no caloric restriction) is a useful strategy to reduce adiposity and obesity-related metabolic risk factors in obese girls. We examined the effects of aerobic (AE) vs. resistance exercise (RE) alone on visceral adipose tissue (VAT), intrahepatic lipid, and insulin sensitivity in obese girls. Forty-four obese adolescent girls (BMI ≥95th percentile, 12-18 yr) with abdominal obesity (waist circumference 106.5 ± 11.1 cm) were randomized to 3 mo of 180 min/wk AE (n = 16) or RE (n = 16) or a nonexercising control group (n = 12). Total fat and VAT were assessed by MRI and intrahepatic lipid by proton magnetic resonance spectroscopy. Intermuscular AT (IMAT) was measured by CT. Insulin sensitivity was evaluated by a 3-h hyperinsulinemic (80 mU·m(2)·min(-1)) euglycemic clamp. Compared with controls (0.13 ± 1.10 kg), body weight did not change (P > 0.1) in the AE (-1.31 ± 1.43 kg) and RE (-0.31 ± 1.38 kg) groups. Despite the absence of weight loss, total body fat (%) and IMAT decreased (P < 0.05) in both exercise groups compared with control. Compared with control, significant (P < 0.05) reductions in VAT (Δ-15.68 ± 7.64 cm(2)) and intrahepatic lipid (Δ-1.70 ± 0.74%) and improvement in insulin sensitivity (Δ0.92 ± 0.27 mg·kg(-1)·min(-1) per µU/ml) were observed in the AE group but not the RE group. Improvements in insulin sensitivity in the AE group were associated with the reductions in total AT mass (r = -0.65, P = 0.02). In obese adolescent girls, AE but not RE is effective in reducing liver fat and visceral adiposity and improving insulin sensitivity independent of weight loss or calorie restriction.


Asunto(s)
Ejercicio Físico/fisiología , Resistencia a la Insulina , Grasa Intraabdominal/metabolismo , Metabolismo de los Lípidos , Hígado/metabolismo , Obesidad/metabolismo , Adiposidad/fisiología , Adolescente , Factores de Edad , Niño , Femenino , Humanos , Grasa Intraabdominal/patología , Obesidad/terapia , Entrenamiento de Fuerza , Pérdida de Peso/fisiología
20.
Eur J Clin Nutr ; 77(1): 127-134, 2023 01.
Artículo en Inglés | MEDLINE | ID: mdl-36076070

RESUMEN

BACKGROUND/OBJECTIVES: This study aimed to identify the factors associated with short- or long-term non-response to an obesity intervention in children and adolescents. SUBJECTS/METHODS: In this observational study, a total of 242 children and adolescents (sex- and age-specific body mass index (BMI) ≥ 85th percentile) were divided into three groups according to the BMI z-score change after 6 (n = 163) and 24 months (n = 110) of participating in an obesity intervention: responders, low responders, and non-responders if the BMI z-score decrease was ≥0.25, 0 to 0.25, and if it increased, respectively. RESULTS: Short-term non-response was associated with higher maternal psychosocial stress (OR = 2.34, 95% CI [1.07-5.11]) and adolescence (>11 years; OR = 2.40, 95% CI [1.10-5.22]). The odds of long-term non-response were reduced by an increased vegetable consumption of more than five dishes per week (OR = 0.21, 95% CI [0.07-0.69]) and an hour of increased sleep duration during weekends (OR = 0.14, 95% CI [0.04-0.53]). CONCLUSIONS: Short-term non-response was associated with child and maternal characteristics, whereas long-term non-response was associated with actual lifestyle changes such as sleep duration and vegetable consumption. Children with obesity may benefit from an hour of weekend catch-up sleep in lowering the risk of long-term treatment non-response. An individualized approach should be considered for children of older age and mothers with a higher level of stress, as they may not benefit from a conventional short-term lifestyle intervention.


Asunto(s)
Obesidad Infantil , Adolescente , Humanos , Niño , Obesidad Infantil/terapia , Índice de Masa Corporal , Estilo de Vida , Padres , Sueño
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