RESUMO
Vitamin D not only plays an important role in bone metabolism but is also involved in multiple immune-mediated processes in the body which may be adversely affected in those with low levels. Most pediatric studies evaluating the association of vitamin D in patients undergoing allogeneic HSCT are single-center studies. We present the results of retrospective study at 5 centers across the United States in pediatric patients undergoing allogeneic HSCT. (VDD) and (VDI) were defined by vitamin D levels of <20 ng/ml and 21-30 ng/ml, respectively. The mean vitamin D levels pre-HSCT, day +30, and +100 were suggestive of VDI, but normalized thereafter. We compared the transplant characteristics and outcomes in 233 patients with VDD and VDI and those with normal levels and found no statistical difference in neutrophil or platelet engraftment, infections (viral, bacterial, or fungal) post-HSCT, length of hospital stay during HSCT, graft failure, acute or chronic GvHD, survival at day +100 and 1 year, or relapse of primary malignancy. We conclude that VDI or deficiency does not affect any of the common transplant variables after allogeneic HSCT in children. There is a need of a large multicenter prospective study to evaluate its role further.
Assuntos
Transplante de Células-Tronco Hematopoéticas , Deficiência de Vitamina D/complicações , Adolescente , Criança , Pré-Escolar , Feminino , Doença Enxerto-Hospedeiro/epidemiologia , Doença Enxerto-Hospedeiro/etiologia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Transplante de Células-Tronco Hematopoéticas/mortalidade , Humanos , Lactente , Recém-Nascido , Infecções/epidemiologia , Infecções/etiologia , Estimativa de Kaplan-Meier , Tempo de Internação/estatística & dados numéricos , Masculino , Avaliação de Resultados em Cuidados de Saúde , Recidiva , Estudos Retrospectivos , Fatores de Risco , Deficiência de Vitamina D/diagnóstico , Adulto JovemRESUMO
Background Both psychosocial and socioeconomic risk factors contribute to poor glycemic control (GC). Previous research has identified that diabetes care behaviors are generally 'set' by late childhood, further highlighting the importance of psychosocial screening and intervention in the early course of disease management. The purpose of the current study was to determine whether this brief risk assessment tool is associated with GC and acute health care (HC) utilization, and to evaluate the discriminatory utility of the tool for predicting poor outcomes. Methods This was a retrospective cohort design in which we compared risk assessment scores with health outcomes at 6, 12, and 18 months after new-onset type 1 diabetes diagnosis for 158 patients between 2015 and 2017. The two primary outcome variables were GC and acute HC utilization. Results Our data demonstrate that the greatest utility of the tool is for predicting increased acute HC utilization. It was most useful in differentiating between patients with vs. without any acute HC utilization, with excellent discriminatory ability (area under the receiver operator characteristic curve [AUC] = 0.93), sensitivity (90%), and specificity (97%). Conclusions Knowledge of the risk category in addition to identification of individual risk factors within each domain allows for not only clear treatment pathways but also individualized interventions. The risk assessment tool was less effective at differentiating patients with poor GC; however, the tool did have high specificity (83%) for predicting poor GC at 18 months which suggests that the tool may also be useful for predicting patients at risk for poor GC.
Assuntos
Biomarcadores/análise , Diabetes Mellitus Tipo 1/tratamento farmacológico , Hiperglicemia/diagnóstico , Hipoglicemiantes/administração & dosagem , Programas de Rastreamento/métodos , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Medição de Risco/métodos , Glicemia/análise , Criança , Feminino , Seguimentos , Hemoglobinas Glicadas/análise , Humanos , Hiperglicemia/induzido quimicamente , Hiperglicemia/epidemiologia , Hipoglicemiantes/efeitos adversos , Incidência , Masculino , Prognóstico , Curva ROC , Estudos RetrospectivosRESUMO
We present here a case of MIRAGE syndrome due to novel variant (c.2318T>C) in the sterile α motif domain-containing protein 9 (SAMD9) gene. Previous reports have described the clinical phenotype, which includes myelodysplasia, recurrent infections, restriction of growth and development, adrenal insufficiency, genitourinary abnormalities, and enteropathies, often resulting in fatality within the first few years of life. This report illustrates the variability in phenotype by describing an 11-year-old male, diagnosed with MIRAGE at age 9 years when his novel variant was identified through whole exome sequencing. A brief review of previously published cases of MIRAGE syndrome and the genotypic and phenotypic spectrum are presented.
Assuntos
Insuficiência Adrenal/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Síndromes Mielodisplásicas/genética , Criança , Humanos , Masculino , Mutação , Sequenciamento do ExomaRESUMO
This discussion reflects on concepts of obesity in children and adolescents in the early 21st century. It includes reflections on its history, definition, epidemiology, diagnostic perspectives, psychosocial considerations, musculoskeletal complications, endocrine complications and principles of management. In addition to emphasis on diet and exercise, research and clinical applications in the second decade of the 21st century emphasize the increasing use of pharmacotherapy and bariatric surgery for adolescent and adult populations with critical problems of overweight and obesity. We conclude with a discussion of future directions in pediatric obesity management.
Assuntos
Cirurgia Bariátrica , Exercício Físico , Obesidade Infantil/epidemiologia , Obesidade Infantil/terapia , Fármacos Antiobesidade/uso terapêutico , Cirurgia Bariátrica/métodos , Índice de Massa Corporal , Criança , Dieta , Medicina Baseada em Evidências , Saúde Global , Humanos , Sobrepeso/epidemiologia , Sobrepeso/terapia , Obesidade Infantil/diagnóstico , Obesidade Infantil/genética , Prevalência , Fatores de Risco , Estados Unidos/epidemiologia , Programas de Redução de Peso/métodos , Organização Mundial da SaúdeAssuntos
Síndrome Metabólica/diagnóstico , Síndrome Metabólica/epidemiologia , Adolescente , Saúde do Adolescente , Fatores Etários , Glicemia , Pressão Sanguínea , Criança , Feminino , Predisposição Genética para Doença , Comportamentos Relacionados com a Saúde , Humanos , Estilo de Vida , Lipídeos/sangue , Síndrome Metabólica/terapia , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Síndrome do Ovário Policístico/epidemiologia , Prevalência , Fatores de Risco , Circunferência da CinturaRESUMO
There are rapid advances being made in the field of medicine! New research continues to investigate etiopathogenic mechanisms underlying many endocrine disorders, new tests to facilitate diagnosis, and newer treatment options. The discussion in this article focuses on a few of the important concerns in adolescent endocrinology and highlights some recent concepts that are important for the physicians taking care of these adolescents. This article also includes a brief update on diabetes mellitus types 1 and 2, obesity, and polycystic ovarian syndrome; new thoughts and controversies about vitamin D and current management of the common thyroid disorders; adrenal insufficiency; and concerns with disorders of puberty in adolescents.
Assuntos
Medicina do Adolescente , Doenças do Sistema Endócrino/terapia , Endocrinologia/tendências , Pediatria , Adolescente , Automonitorização da Glicemia , Anticoncepcionais Orais Hormonais/uso terapêutico , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/tratamento farmacológico , Doenças do Sistema Endócrino/diagnóstico , Feminino , Humanos , Hipoglicemiantes/uso terapêutico , Insulina/uso terapêutico , Obesidade/diagnóstico , Obesidade/terapia , Síndrome do Ovário Policístico/diagnóstico , Síndrome do Ovário Policístico/tratamento farmacológico , Puberdade , Doenças da Glândula Tireoide/diagnóstico , Doenças da Glândula Tireoide/terapia , Deficiência de Vitamina D/diagnóstico , Deficiência de Vitamina D/tratamento farmacológicoRESUMO
Bone is a metabolically active organ that undergoes constant remodeling. Bone is very important for maintaining homeostasis of calcium and phosphorous in the body. Disorders of bone metabolism may encompass disease processes involving underactive or overactive bone turnover. The spectrum of abnormal bone metabolism includes rickets and osteomalacia; osteopenia and osteoporosis; osteogenesis imperfecta, renal osteodystrophy; osteopetrosis and osteosclerosis; and effect of pharmacologic therapies on bone metabolism. The recognition, evaluation, treatment, and prevention of these conditions will be discussed after a brief description of normal bone metabolism.
Assuntos
Doenças Ósseas Metabólicas/diagnóstico , Doenças Ósseas Metabólicas/terapia , Adolescente , Desenvolvimento Ósseo/efeitos dos fármacos , Distúrbio Mineral e Ósseo na Doença Renal Crônica/diagnóstico , Distúrbio Mineral e Ósseo na Doença Renal Crônica/etiologia , Distúrbio Mineral e Ósseo na Doença Renal Crônica/terapia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Humanos , Osteogênese Imperfeita/diagnóstico , Osteogênese Imperfeita/etiologia , Osteogênese Imperfeita/terapia , Osteopetrose/diagnóstico , Osteopetrose/etiologia , Osteopetrose/terapia , Osteoporose/diagnóstico , Osteoporose/etiologia , Osteoporose/terapia , Raquitismo/diagnóstico , Raquitismo/etiologia , Raquitismo/terapiaRESUMO
Diabetes mellitus (DM) is a chronic metabolic disorder caused by absolute or relative insulin deficiency. It causes disturbances in carbohydrate, protein, and fat metabolism. Environmental triggers superimposed on a genetic predisposition are responsible for the clinical expression of the syndrome. This article outlines current ideas in diagnosis and treatment of diabetes in adolescents. The"team approach" to outpatient diabetes management is described,with the hope that it will be of benefit to primary care physicians and their office staff. Advances in diabetes care regimens, and tools used in diabetes care are briefly summarized. Summary tables are provided to assist in routine care, troubleshooting, and advanced management.
Assuntos
Diabetes Mellitus/terapia , Hipoglicemiantes/uso terapêutico , Insulina/uso terapêutico , Visita a Consultório Médico , Equipe de Assistência ao Paciente/organização & administração , Adolescente , Medicina do Adolescente , Consumo de Bebidas Alcoólicas/fisiopatologia , Automonitorização da Glicemia/métodos , Complicações do Diabetes/fisiopatologia , Diabetes Mellitus/diagnóstico , Testes Diagnósticos de Rotina , Feminino , Humanos , Masculino , Educação de Pacientes como Assunto/métodos , Gravidez , Fumar/fisiopatologia , Esportes/fisiologia , Esportes/psicologiaRESUMO
Pituitary apoplexy is an acute clinical event usually caused by hemorrhage or infarction in a pituitary adenoma. We report the unusual case of hemorrhagic pituitary apoplexy in an 18 year-old male with previously undiagnosed type 2 diabetes mellitus who presented with unexplained hyperglycemia (glucose 49.2 mmol/l [887 mg/dl]) and obtundation and in whom an initial diagnosis of non-ketotic hyperglycemic coma (NKHC) was made. MRI revealed a heterogeneous mass arising from an expanded sella turcica into the suprasellar cistern. Despite well-controlled glucose levels on continuous insulin infusion, dexamethasone, and initiation of bromoergocriptine (parlodel) therapy, the patient's vision and pupillary responses deteriorated acutely. Following emergency transphenoidal surgery, the patient's vision and mental status improved. Data confirmed preoperative panhypopituitarism; serum prolactin was 396 ng/ml (microg/l). Immunostudies demonstrated tumoral labeling for prolactin, but not for ACTH, GH, TSH, LH, FSH, or P53.