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1.
Medicine (Baltimore) ; 100(11): e25195, 2021 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-33726012

RESUMO

ABSTRACT: The present study was conducted with an attempt to explore the correlation of serum resistin level and other metabolic hormones and immune function in neonatal umbilical cord blood.The levels of umbilical cord blood resistin, adiponectin, insulin, growth hormone, leptin, thyrotropin, thyroid hormone (T3, T4), lgM, lgA, lgG, CD4, and CD8 were measured in 180 full-term newborns delivered in hospital from October 2018 to November 2019. The delivery mode, weight, height, and gender at birth were recorded.The levels of resistin, insulin, and growth hormone in umbilical cord blood of newborns delivered vaginally were significantly higher than those born by cesarean section (P < .05), while the levels of adiponectin, leptin, TST, T3, T4, lgM, lgA, lgG, CD4, and CD8 were comparable between the 2 groups (P > .05). The levels of resistin, adiponectin, insulin, growth hormone, leptin, TST, T3, T4, lgM, lgA, lgG, CD4, and CD8 in cord blood of male and female newborns were comparable (P > .05). The newborns with birth weight ≥ 3501 g reported comparable results in the levels of resistin and growth hormone compared with those with birth weight of 3000 to 3500 g (P > .05), but were significantly higher than those with birth weight ≤ 2999 g (P < 0.05). In addition, the levels of adiponectin, insulin, leptin, TST, T3, T4, lgM, lgA, lgG, CD4, and CD8 were comparable among the 3 groups (P > .05). Based on Pearson correlation analysis, neonatal umbilical cord blood resistin was positively correlated with adiponectin, leptin, growth hormone, T3, and T4 (r = 0.281, 0.287, 0.321, 0.276, 0.269, P < .05). However, there was no significant correlation between neonatal umbilical cord blood resistin and insulin, TST, lgM, lgA, lgG, CD4, and CD8.The level of serum resistin in neonatal umbilical cord blood was associated with the delivery mode and birth weight, and positively correlated with adiponectin, leptin, growth hormone, T3, and T4. However, no correlation was observed between serum resistin in neonatal umbilical cord blood and insulin, TST, lgM, lgA, lgG, CD4, and CD8.


Assuntos
Adipocinas/sangue , Peso ao Nascer , Parto Obstétrico/estatística & dados numéricos , Sangue Fetal/química , Hormônio do Crescimento Humano/sangue , Hormônios Tireóideos/sangue , Adiponectina/sangue , Feminino , Sangue Fetal/imunologia , Humanos , Imunoglobulina A/sangue , Imunoglobulina G/sangue , Imunoglobulina M/sangue , Recém-Nascido , Insulina/sangue , Leptina/sangue , Contagem de Linfócitos , Masculino , Gravidez , Resistina/sangue , Nascimento a Termo/sangue , Tireotropina/sangue
2.
DNA Cell Biol ; 40(3): 543-552, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33687272

RESUMO

Obesity in puberty, already a time of insulin resistance, increases the risk of developing type 2 diabetes. Human (h) growth hormone (GH) levels also peak during puberty, where it contributes to growth and energy homeostasis through positive effects on maintaining pancreatic ß cell mass. Thus, it is important to understand the effects of overeating and obesity on hGH production in puberty. Three days of overeating in young male adults or high-fat diet (HFD) in pubescent male transgenic (171hGH/CS) CD-1 mice containing the hGH gene (hGH-N) results in excess insulin and a decrease in hGH production. This reduction in these mice occurred during the light phase of the daily cycle, and was associated with decreased availability of the clock-related transcription factor Brain and Muscle ARNT-Like 1 (Bmal1). However, the HFD-induced decrease in hGH-N expression was blocked by forced daily swim activity, which is expected to increase glucocorticoid (GC) levels. The aim of the study was to assess whether GCs, specifically daily injections with a pharmacological dose of dexamethasone (DEX) in the light or dark phase of the daily cycle, can limit the negative effect of HFD for 3 days on hGH-N expression in male 171hGH/CS mice. DEX treatment increased or rescued hGH-N RNA levels, and was associated with elevated Bmal1 transcripts when assessed 12 h after final treatment, and at a time when serum corticosterone levels were suppressed >90%. In addition, a diet-dependent effect on hGH-N RNA levels was observed at 36 h after final treatment, but only in the light stage, presumably due to residual effects of DEX treatment and/or recovery of endogenous corticosterone levels. This is the first evidence for a direct effect of GCs on hGH-N expression in vivo and the ability to potentially limit the negative effect of overeating/obesity on hGH production in puberty.


Assuntos
Dexametasona/farmacologia , Dieta Hiperlipídica/efeitos adversos , Regulação da Expressão Gênica/efeitos dos fármacos , Hormônio do Crescimento Humano/biossíntese , Animais , Hormônio do Crescimento Humano/genética , Masculino , Camundongos , Camundongos Transgênicos , Fatores de Tempo
3.
Mil Med Res ; 8(1): 18, 2021 03 09.
Artigo em Inglês | MEDLINE | ID: mdl-33685528

RESUMO

BACKGROUND: Vacuum sealing drainage (VSD) and epidermal growth factor (EGF) both play an important role in the treatment of wounds. This study aims to explore the effects of the combination of VSD and EGF on wound healing and the optimal concentration and time of EGF. METHODS: We tested the proliferation and migration capacity of HaCaT and L929 cells at different EGF concentrations (0, 1, 5, 10, and 100 ng/ml) and different EGF action times (2, 10, and 30 min). A full-thickness skin defect model was established using male, 30-week-old Bama pigs. The experiment included groups as follows: routine dressing change after covering with sterile auxiliary material (Control), continuous negative pressure drainage of the wound (VSD), continuous negative pressure drainage of the wound and injection of EGF 10 min followed by removal by continuous lavage (V + E 10 min), and continuous negative pressure drainage of the wound and injection of EGF 30 min followed by removal by continuous lavage (V + E 30 min). The wound healing rate, histological repair effect and collagen deposition were compared among the four groups. RESULTS: An EGF concentration of 10 ng/ml and an action time of 10 min had optimal effects on the proliferation and migration capacities of HaCaT and L929 cells. The drug dispersion effect was better than drug infusion after bolus injection effect, and the contact surface was wider. Compared with other groups, the V + E 10 min group promoted wound healing to the greatest extent and obtained the best histological score. CONCLUSIONS: A recombinant human epidermal growth factor (rhEGF) concentration of 10 ng/ml can promote the proliferation and migration of epithelial cells and fibroblasts to the greatest extent in vitro. VSD combined with rhEGF kept in place for 10 min and then washed, can promote wound healing better than the other treatments in vivo.


Assuntos
Fator de Crescimento Epidérmico/uso terapêutico , Hormônio do Crescimento Humano/uso terapêutico , Tratamento de Ferimentos com Pressão Negativa/normas , Cicatrização/efeitos dos fármacos , Animais , Fator de Crescimento Epidérmico/farmacologia , Hormônio do Crescimento Humano/farmacologia , Tratamento de Ferimentos com Pressão Negativa/métodos , Suínos
4.
Eur J Endocrinol ; 184(4): C5-C7, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33524002

RESUMO

Adult growth hormone deficiency (GHD) is a syndrome characterized by adverse phenotypic, metabolic, and quality-of-life features. Over the past 2 decades, there is accumulating evidence demonstrating improvement of most of these parameters when GH is optimally replaced. Appropriate selection of patients at risk of GHD is crucial when considering and performing testing to establish the diagnosis. While generally safe, GH replacement requires careful dose initiation and monitoring to assure effectiveness and tolerance in treated patients. Several consensus clinical practice guidelines recommend evaluation of adults presenting with hypothalamic-pituitary disorders for GHD. However, the clinical practice of managing such patients varies among countries largely due to lack of recognition of the condition, lack of GH availability, and lack of reimbursement of the drug, as demonstrated from a large online survey prepared by the European Society of Endocrinology involving 2148 patients from Europe and Australia. These data reinforce the notion of the large variability of disease recognition, clinical practice and education of adult GHD amongst healthcare professionals, and the lack of availability and reimbursement of the drug contributing to the under-utilization of GH replacement therapy in several countries. This commentary article highlights the fact that despite the publication of several guideline recommendations and positive long-term safety and efficacy data of GH replacement, there is still a need for increased education to enhance the awareness in the general population and improve the knowledge of healthcare professionals and administrators of adult GHD as a disease state to allow for early identification and treatment optimization.


Assuntos
Terapia de Reposição Hormonal/métodos , Hormônio do Crescimento Humano/deficiência , Adulto , Endocrinologistas/educação , Pessoal de Saúde/educação , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Doenças Hipotalâmicas/diagnóstico , Doenças Hipotalâmicas/terapia , Doenças da Hipófise/diagnóstico , Doenças da Hipófise/terapia , Guias de Prática Clínica como Assunto , Inquéritos e Questionários
5.
Medicine (Baltimore) ; 100(5): e23984, 2021 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-33592853

RESUMO

BACKGROUND: Diabetic foot ulcer (DFU) is one of the serious complications of diabetes. It is the result of a joint effect of lower extremities vascular lesions, neuropathy, and infection, which require amputation and even threaten the life of the patient. At present, the conventional treatment for DFU includes infection control, wound care, wound reduction, reduction of foot pressure, use of dressings that are beneficial to wound surface healing, etc, but the effectiveness is not satisfactory. Recombinant human growth hormone and alginate dressing have been used in clinical, but there is lack of the relevant evidence of its effectiveness and safety, so this study evaluates the clinical effectiveness and safety of recombinant human growth hormone combined with alginate dressing in the treatment of DFU by systematic evaluation, the purpose is to provide a theoretical basis for the treatment of diabetic foot ulcer. METHODS: This study mainly retrieves the randomized controlled trial of recombinant human growth hormone combined alginate dressing in the treatment of DFU in 7 electronic databases, such as PubMed, EMbase, Cochrane Library, SinoMed, CNKI, WANGFANG database, and VIP database. All the retrieval dates of database are from the establishment of the database until May 31, 2020. At the same time, searching the related degree papers, conference papers, and other gray literature by manual. The original literature data are independently screened and extracted by 2 researchers on the basis of inclusion and exclusion criteria and literature information sheets, and cross-checked and resolved through group discussions and consultations when there are differences of the opinion. Assessing the methodological quality of inclusion in the study based on the "Bias Risk Assessment Form" of the Cochrane Collaboration Network. Using the software of RevMan 5.3.3 and STATA 13.0 for statistical analysis. RESULTS: This study compares the main and secondary outcome indicators by systematic evaluation and it will provide strong evidence of recombinant human growth hormone combined alginate dressing in the treatment of DFU. ETHICS AND DISSEMINATION: All data in this study are obtained through the web database and do not involve humans, so ethical approval is not suitable for this study. OSF REGISTRATION NUMBER: DOI 10.17605/OSF.IO/W6P24. CONCLUSION: This study will give positive conclusions about the effectiveness and safety of recombinant human growth hormone combined alginate dressing in the treatment of DFU.


Assuntos
Alginatos/uso terapêutico , Bandagens , Pé Diabético/terapia , Hormônio do Crescimento Humano/uso terapêutico , Proteínas Recombinantes/uso terapêutico , Terapia Combinada , Humanos , Metanálise como Assunto , Ensaios Clínicos Controlados Aleatórios como Assunto , Projetos de Pesquisa , Revisões Sistemáticas como Assunto , Resultado do Tratamento , Cicatrização
6.
Cardiovasc Ther ; 2021: 2680107, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33552234

RESUMO

Background: The probable impact of growth hormone (GH) as a heart failure (HF) treatment strategy is still less investigated. Therefore, we aimed to evaluate the relation of 3-month GH prescription on left ventricular ejection fraction (LVEF), interventricular septum (IVS), posterior left ventricle (LV) thickness, end systolic and end diastolic diameters (ESD and EDD), and pulmonary arterial pressure (PAP) among Iranian individuals suffering from HF due to MI attack. Methods: A total of 16 clinically stable participants with HF diagnosis and LVEF < 40% were selected for enrollment in this pilot randomized double-blinded study. They were randomly assigned equally to groups received 5 IU subcutaneous GH or placebo. Injections were done every other day for a total of 3-month duration. After termination of intervention and nine months afterwards, cardiac outcomes were assessed. Results: Baseline and 12-month posttrial participants' characteristics were similar. LVEF was increased significantly by three months started from baseline in individuals receiving GH (32 ± 3.80% to 43.80 ± 4.60%, P = 0.002). During the next 9 months of follow-up concurrent with cessation of injections, LVEF was declined (43.80 ± 4.60% to 32.20 ± 6.97%, P = 0.008). LVEF and ESD were remarkably higher and lower in GH group compared with controls by the end date of injections (43.80 ± 4.60% vs. 33.14 ± 4.84%, P = 0.02 and 39.43 ± 3.45 mm vs. 33 ± 3.16 mm, P = 0.03, respectively). No other considerable association was found in terms of other predefined variables in neither GH nor placebo groups. Conclusions: GH administration in HF patients was associated with increased LVEF function. Several randomized clinical trials are necessary proving this relation. This trial is registered with IRCT201704083035N1.


Assuntos
Insuficiência Cardíaca/tratamento farmacológico , Hormônio do Crescimento Humano/administração & dosagem , Infarto do Miocárdio/complicações , Volume Sistólico/efeitos dos fármacos , Função Ventricular Esquerda/efeitos dos fármacos , Adulto , Idoso , Método Duplo-Cego , Esquema de Medicação , Insuficiência Cardíaca/etiologia , Insuficiência Cardíaca/fisiopatologia , Humanos , Injeções Subcutâneas , Irã (Geográfico) , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/fisiopatologia , Infarto do Miocárdio/terapia , Projetos Piloto , Recuperação de Função Fisiológica , Fatores de Tempo , Resultado do Tratamento
8.
Medicine (Baltimore) ; 100(7): e24871, 2021 Feb 19.
Artigo em Inglês | MEDLINE | ID: mdl-33607861

RESUMO

BACKGROUND: Idiopathic short stature (ISS) causes a high economic burden worldwide. As part of a research project that synthesizes economic evidence for Korean medicine treatment of ISS, we describe the methods that will be used for the comprehensive review of articles that analyze health-related economic evaluation for available interventions for ISS using a systematic review methodology. METHODS: Eight electronic English, Korean, and Chinese databases will be searched from their inception until December 2020 to identify studies on the economic evaluation of available interventions on ISS, without language, study design, or publication status restrictions. From the included studies, the effectiveness, utility, and cost data will be collected as the outcome measures by two researchers independently. Descriptive analysis of individual studies will be conducted. If it is judged that the interventions and outcomes of the included studies are sufficiently homogeneous, we will attempt a quantitative synthesis through meta-analysis using Review Manager version 5.4 software (Cochrane, London, UK). RESULTS: This study will summarize the evidence regarding the economic evaluation of available interventions for ISS. CONCLUSIONS: The findings of this review will help clinicians and patients in evidence-based decision-making in clinical settings and help policy makers develop effective policies and distribute resources based on the available evidence.


Assuntos
Análise Custo-Benefício/métodos , Nanismo/economia , Nanismo/terapia , Acupuntura/métodos , Pessoal Administrativo/legislação & jurisprudência , Tomada de Decisão Clínica/ética , Efeitos Psicossociais da Doença , Gerenciamento de Dados , Nanismo/epidemiologia , Feminino , Recursos em Saúde/provisão & distribução , Medicina Herbária/métodos , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Masculino , Ensaios Clínicos Controlados não Aleatórios como Assunto , Ensaios Clínicos Controlados Aleatórios como Assunto , República da Coreia/epidemiologia
9.
Int J Mol Sci ; 22(2)2021 Jan 13.
Artigo em Inglês | MEDLINE | ID: mdl-33451138

RESUMO

We report on a patient born to consanguineous parents, presenting with Growth Hormone Deficiency (GHD) and osteoporosis. SNP-array analysis and exome sequencing disclosed long contiguous stretches of homozygosity and two distinct homozygous variants in HESX1 (Q6H) and COL1A1 (E1361K) genes. The HESX1 variant was described as causative in a few subjects with an incompletely penetrant dominant form of combined pituitary hormone deficiency (CPHD). The COL1A1 variant is rare, and so far it has never been found in a homozygous form. Segregation analysis showed that both variants were inherited from heterozygous unaffected parents. Present results further elucidate the inheritance pattern of HESX1 variants and recommend assessing the clinical impact of variants located in C-terminal propeptide of COL1A1 gene for their potential association with rare recessive and early onset forms of osteoporosis.


Assuntos
Colágeno Tipo I/genética , Proteínas de Homeodomínio/genética , Homozigoto , Hormônio do Crescimento Humano/deficiência , Mutação , Osteoporose/diagnóstico , Osteoporose/etiologia , Adolescente , Idade de Início , Substituição de Aminoácidos , Colágeno Tipo I/química , Análise Mutacional de DNA , Facies , Estudos de Associação Genética , Predisposição Genética para Doença , Proteínas de Homeodomínio/química , Humanos , Hipopituitarismo/complicações , Hipopituitarismo/genética , Imagem por Ressonância Magnética , Masculino , Modelos Moleculares , Fenótipo , Polimorfismo de Nucleotídeo Único , Radiografia , Relação Estrutura-Atividade
10.
Endocr Pract ; 27(1): 51-55, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33475501

RESUMO

OBJECTIVE: Acromegaly is characterized by increased serum concentrations of growth hormone (GH) and insulin-like growth factor 1 (IGF-1). Although animal studies have demonstrated a relationship between these hormones and cancer risk, the results of human studies evaluating cancer prevalence in acromegaly are inconsistent. We aimed to investigate the prevalence of malignant neoplasms in patients with acromegaly. METHODS: Cancer risk was evaluated in a cohort of 280 patients (male/female: 120/160; mean age: 50.93 ± 12.07 years) with acromegaly. Patients were categorized into 2 groups according to the presence or absence of cancer. Standard incidence ratios were calculated as compared to the general population. RESULTS: From 280 patients, cancer was diagnosed in 19 (6.8%) patients; 9 (47%) of them had thyroid cancer, which was the most common cancer type. Standard incidence ratios of all cancers were 0.8 (95% CI, 0.5-1.1) and 1.0 (95% CI, 0.8-1.3) in men and women, respectively. Compared to patients without cancer, the current age was higher in patients with cancer (59 [49-65] to 51 [42-59], P = .027). In contrast, the age at diagnosis was similar in both groups. Not only was the time to diagnosis and disease duration similar in both groups but also the basal and current GH and IGF-1 levels. The prevalence of active disease was also similar between the groups (32% to 23%, P = .394). CONCLUSION: Our findings were not consistent with the studies suggesting that patients with acromegaly encounter an increased cancer risk. Furthermore, there were similar basal and current GH and IGF-1 levels in patients with acromegaly, both with and without cancer.


Assuntos
Acromegalia , Hormônio do Crescimento Humano , Neoplasias , Acromegalia/complicações , Acromegalia/epidemiologia , Adulto , Feminino , Hormônio do Crescimento , Humanos , Fator de Crescimento Insulin-Like I , Masculino , Pessoa de Meia-Idade , Neoplasias/epidemiologia , Prevalência
11.
Expert Rev Med Devices ; 18(1): 91-106, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33307881

RESUMO

BACKGROUND: Growth hormone (GH) treatment preference and adherence are affected by delivery device convenience, injection-site pain, confidence in correct dose administration, and device satisfaction. This survey investigated if switching device to NordiFlex® improved treatment experience in pediatric patients in South Korea. DESIGN AND METHODS: Patients aged 4-≤18 years were surveyed. Participants were NordiFlex® users who previously used NordiLet®/other devices. Participants compared preference, self-reported adherence, satisfaction, perceived ease of use, and device subjective benefits (across four domains: ease of use, self-efficacy, minimal disruption of daily life, positive feelings about injections) of NordiFlex® vs. previous device. RESULTS: Ninety-four patients were enrolled, of which 91.5% previously used NordiLet®. Significantly more patients preferred, and were more satisfied with NordiFlex® vs. previous device; mean score: 0.65 (95% confidence interval [CI]:0.41;0.88) and 0.61 (95% CI:0.36;0.85), respectively. Participants reported greater perceived ease of use (0.49 [95% CI:0.26;0.72]) and fewer missed injections (0.20 [95% CI:0.06;0.34], with NordiFlex® vs. previous device. Bivariate analysis showed significant associations between preference for NordiFlex® and higher scores on self-efficacy, ease of use, minimal disruption of daily life, and positive feelings about injection (all p < 0.001). CONCLUSION: These results suggest that improvements in device features could be associated with improved treatment experience.


Assuntos
Hormônio do Crescimento Humano/farmacologia , Injeções/instrumentação , Medidas de Resultados Relatados pelo Paciente , Adolescente , Cuidadores , Criança , Feminino , Hormônio do Crescimento Humano/administração & dosagem , Humanos , Masculino , Análise Multivariada , Cooperação do Paciente , Satisfação do Paciente , República da Coreia , Autorrelato , Inquéritos e Questionários , Resultado do Tratamento
12.
Ter Arkh ; 92(10): 48-53, 2020 Nov 24.
Artigo em Russo | MEDLINE | ID: mdl-33346479

RESUMO

AIM: To investigate the value of 24 hours post-surgery measurement of growth hormone (GH) level for prognosis of surgical outcomes in acromegaly. MATERIALS AND METHODS: A prospective cohort study included 45 patients with newly diagnosed acromegaly. The degree of parasellar extension was measured on the preoperative sellar magnetic resonance imaging according to the Knosps classification. All patients underwent a transsphenoid adenomectomy performed by one neurosurgeon. Basal GH level was measured at 24 hours after surgery. The efficacy of transsphenoidal adenomectomy evaluated at 12 months after surgery. RESULTS: Acromegaly remission was achieved in 19 (42%) of 45 patients at 12 months after surgery. Pituitary microadenomas and the absence of paracellular invasion, corresponding to Knosp Grade 02, had low prognostic value for long-term remission due to low sensitivity (31.6%) and low specificity (38.5%), respectively. The highest prognostic value for acromegaly remission was showed for 24 hours post-surgery GH level with cut-off 1.30 ng/ml with sensitivity of 96.2% (95% confidence interval 81.199.8%) and specificity of 84.2% (95% confidence interval 62.494.4%). CONCLUSION: The study demonstrated the possibility of using GH level at 24 after surgery as a predictor for acromegaly remission. GH level 1.30 ng/ml at 24 hours after surgery showed better predictive value for long-term remission compared with the presence of microadenomas and Knosp Grade 02. The absence of decrease of GH level on the first day after surgery may serve as a reason for more close monitoring of patients in the postoperative period. Further studies in a larger number of observers are required to confirm our findings.


Assuntos
Acromegalia , Hormônio do Crescimento Humano , Acromegalia/diagnóstico , Acromegalia/cirurgia , Humanos , Fator de Crescimento Insulin-Like I , Período Pós-Operatório , Prognóstico , Estudos Prospectivos , Estudos Retrospectivos , Resultado do Tratamento
14.
Medicine (Baltimore) ; 99(40): e22432, 2020 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-33019423

RESUMO

Nesfatin-1 was identified as a satiety factor involved in the regulation of metabolism. Altered levels of circulating nesfatin-1 had been observed in a variety of diseases characterized by energy imbalance. However, there was no published data about nesfatin-1 levels in acromegaly.We evaluated serum nesfatin-1 levels in 13 patients with acromegaly at baseline and postoperatively, and in 21 age- and body mass index (BMI)-matched healthy subjects.Compared with the healthy subjects, patients with acromegaly had significantly increased levels of serum insulin, high-density lipoprotein cholesterol, triglyceride, and growth hormone (GH). Moreover, the acromegaly group had nesfatin-1 levels higher than controls (1.96 ±â€Š0.56 ng/mL vs 0.61 ±â€Š0.10 ng/mL, P = .004). There was a positive correlation of serum nesfatin-1 levels with diastolic blood pressure (r = 0.579, P = .038) and homeostasis model assessment of insulin resistance (HOMA-IR) (r = 0.598, P = .031) in patients with acromegaly. While a successful surgery decreased serum GH levels, the serum nesfatin-1 levels did not change in acromegaly (P = .965). At last, we compared serum GH/nesfatin-1 levels with predictive markers for aggressive behaviors in pituitary adenomas. There was no relationship between serum nesfatin-1 levels and tumor's size, Ki-67 index, mutant p53, or MGMT proteins. However, increased serum GH levels were positively correlated with tumors' size (P = .023) and mutant p53 proteins expression (P = .028).Circulating nesfatin-1 was increased in acromegaly, which was involved in metabolism regulation.


Assuntos
Acromegalia/sangue , Nucleobindinas/sangue , Adenoma/sangue , Adenoma/patologia , Adenoma/cirurgia , Adulto , Pressão Sanguínea , Estudos de Casos e Controles , Feminino , Hormônio do Crescimento Humano/sangue , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Hipofisárias/sangue , Neoplasias Hipofisárias/patologia , Neoplasias Hipofisárias/cirurgia , Curva ROC
15.
Yonsei Med J ; 61(11): 981-985, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33107243

RESUMO

3-M syndrome is a rare autosomal recessive growth disorder characterized by severe growth retardation, low birth weight, characteristic facial features, and skeletal anomalies, for which three causative genes (CUL7, OBSL1, and CCDC8) have been identified. We herein report two Korean siblings with 3-M syndrome caused by two novel OBSL1 mutations, and describe the effect of a combined treatment with growth hormone (GH) and a gonadotropin-releasing hormone (GnRH) agonist. A 7-year-old girl with short stature (-3.37 standard deviation score, SDS) and breast budding presented with subtle dysmorphic features, including macrocephaly, frontal bossing, a triangular face, prominent philtrum, full lips, a short neck, and fifth-finger clinodactyly. GnRH stimulation test revealed a pubertal pattern and advanced bone age of 8 years and 10 months. Her older sister, aged 10 years and 9 months, had experienced an early menarche, and had an advanced bone age (13.5 years) and predicted adult height of 142 cm (-4.04 SDS). Targeted exome sequencing identified that the siblings had two heteroallelic mutations in OBSL1. Both siblings underwent a combination therapy with GH and a GnRH agonist. A height gain was noted in both siblings even after short-term treatment. To fully elucidate the effects of the combined therapy, a larger cohort should be analyzed following a longer treatment period. However, such an analysis would be challenging due to the rarity of this disease.


Assuntos
Proteínas do Citoesqueleto/genética , Nanismo/tratamento farmacológico , Hormônio Liberador de Gonadotropina/uso terapêutico , Hormônio do Crescimento Humano/uso terapêutico , Hipotonia Muscular/tratamento farmacológico , Puberdade Precoce/genética , Coluna Vertebral/anormalidades , Criança , Nanismo/diagnóstico , Feminino , Hormônio Liberador de Gonadotropina/agonistas , Humanos , Hipotonia Muscular/diagnóstico , Mutação , República da Coreia , Irmãos , Resultado do Tratamento , Sequenciamento Completo do Exoma
16.
Eur J Endocrinol ; 183(6): 581-595, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33055295

RESUMO

Objective: Copy number variation (CNV) has been associated with idiopathic short stature, small for gestational age and Silver-Russell syndrome (SRS). It has not been extensively investigated in growth hormone insensitivity (GHI; short stature, IGF-1 deficiency and normal/high GH) or previously in IGF-1 insensitivity (short stature, high/normal GH and IGF-1). Design and methods: Array comparative genomic hybridisation was performed with ~60 000 probe oligonucleotide array in GHI (n = 53) and IGF-1 insensitivity (n = 10) subjects. Published literature, mouse models, DECIPHER CNV tracks, growth associated GWAS loci and pathway enrichment analyses were used to identify key biological pathways/novel candidate growth genes within the CNV regions. Results: Both cohorts were enriched for class 3-5 CNVs (7/53 (13%) GHI and 3/10 (30%) IGF-1 insensitivity patients). Interestingly, 6/10 (60%) CNV subjects had diagnostic/associated clinical features of SRS. 5/10 subjects (50%) had CNVs previously reported in suspected SRS: 1q21 (n = 2), 12q14 (n = 1) deletions and Xp22 (n = 1), Xq26 (n = 1) duplications. A novel 15q11 deletion, previously associated with growth failure but not SRS/GHI was identified. Bioinformatic analysis identified 45 novel candidate growth genes, 15 being associated with growth in GWAS. The WNT canonical pathway was enriched in the GHI cohort and CLOCK was identified as an upstream regulator in the IGF-1 insensitivity cohorts. Conclusions: Our cohort was enriched for low frequency CNVs. Our study emphasises the importance of CNV testing in GHI and IGF-1 insensitivity patients, particularly GHI subjects with SRS features. Functional experimental evidence is now required to validate the novel candidate growth genes, interactions and biological pathways identified.


Assuntos
Variações do Número de Cópias de DNA/genética , Testes Genéticos/métodos , Hormônio do Crescimento Humano/genética , Fator de Crescimento Insulin-Like I/genética , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Hormônio do Crescimento Humano/sangue , Humanos , Lactente , Fator de Crescimento Insulin-Like I/metabolismo , Masculino
17.
Vnitr Lek ; 66(4): 82-86, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32972190

RESUMO

Acromegaly is a rare disease with incidence of 3-4 patients per 1 000000 per year, which is mainly caused by benign tumour of the pituitary gland. Long-term presence of elevated growth hormone (GH) and insulin like growth factor 1 (IGF-1) levels accompanying this disease is associated with rheumatologic, cardiovascular, pulmonary and metabolic complications. Cardiovascular complications of acromegaly include a cardiomyopathy, arterial hypertension, arrhytmias, valvulopathy as well as endothelial dysfunction. Cardiovascular diseases are the leading cause of mortality in patients with acromegaly. An early diagnosis of acromegaly significantly influences both morbidity and mortality of patients suffering from this disease. We describe a 39-year-old patient with undiagnosed acromegaly presented with acute heart failure caused by acromegalic cardiomyopathy.


Assuntos
Acromegalia , Cardiomiopatias , Doenças Cardiovasculares , Cardiopatias , Insuficiência Cardíaca , Hormônio do Crescimento Humano , Acromegalia/complicações , Acromegalia/diagnóstico , Adulto , Insuficiência Cardíaca/etiologia , Humanos , Fator de Crescimento Insulin-Like I
18.
Medicine (Baltimore) ; 99(37): e22147, 2020 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-32925771

RESUMO

Health disorders in mothers and their children are subject to mutual influences arising from the nature of mother-child relationship. The aim of the study was to analyze the issue of anxiety amongst mothers of short children in aspect of growth hormone (GH) therapy in Poland.The study was based on a group of 101 mothers of originally short-stature children: 70 with GH deficiency treated with recombinant human GH and 31 undergoing the diagnostic process, without any treatment. Collected medical data included the child's gender, height and weight, chronological age, bone age delay, and GH therapy duration. For all children the height SDS (standard deviation score of height) and BMI SDS (standard deviation score of body mass index) were calculated. The Spielberger State-Trait Anxiety Inventory (STAI) was used to evaluate anxiety levels among the recruited mothers. Obtained results revealed low trait anxiety levels in all mothers, with no statistically significant differences between the groups. State anxiety levels were significantly higher in mothers of children without diagnosis and treatment than in mothers of children receiving appropriate therapy. Significantly lower levels of maternal state anxiety were observed during the first stage of the GH therapy, and they were further reduced in mothers of children treated for more than 4 years.Growth failure in Polish children is not associated with high maternal anxiety as a personality trait, but lack of diagnosis and lack of appropriate treatment seem to generate high levels of anxiety as a transient state in mothers. The initiation of GH therapy induces a substantial reduction of maternal state anxiety, and the duration of this treatment causes its further decrease. Mothers of short children undergoing diagnostic process could benefit from psychological support, but it seems to be unnecessary when their children are treated with GH.


Assuntos
Ansiedade/epidemiologia , Transtornos do Crescimento/psicologia , Hormônio do Crescimento/deficiência , Hormônio do Crescimento Humano/uso terapêutico , Mães/psicologia , Adolescente , Fatores Etários , Estatura , Índice de Massa Corporal , Peso Corporal , Criança , Pré-Escolar , Feminino , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/tratamento farmacológico , Humanos , Masculino , Polônia/epidemiologia , Fatores Sexuais
19.
Pediatr Endocrinol Rev ; 17(4): 287-292, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32780951

RESUMO

Glucose dysregulation (GD), a feature of growth hormone excess, in the setting of acromegaly is well known by clinicians. However, less well known is that GD may be a feature of growth hormone deficiency. The fact that either ends of the spectrum of growth hormone (excess or deficiency) can be associated with diabetes mellitus is unique and clinicians should especially recognize that impaired glucose tolerance and even diabetes mellitus may develop in individuals predisposed to having growth hormone deficiency.


Assuntos
Diabetes Mellitus , Acromegalia , Glucose , Hormônio do Crescimento Humano , Humanos
20.
Pediatr Endocrinol Rev ; 17(4): 327-330, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32780956

RESUMO

Skeletal dysplasias are the disorders of the skeletal and cartilaginous tissues. Short stature is the hallmark presentation. Achondroplasia is the commonest skeletal dysplasia. Growth hormone (GH) has been widely used in children with achondroplasia. Various studies have shown 1st year increase in height velocity is about 2-3cm. Apart from achondroplasia, studies have also shown positive effect of GH in hypochondroplasia children. However, in hypochondroplasia GH treatment seems to give better results when administered at puberty. Other forms of skeletal dysplasias are rare, so no conclusion on GH use in such patients can be drawn.


Assuntos
Hormônio do Crescimento Humano/uso terapêutico , Osteocondrodisplasias , Acondroplasia , Estatura , Humanos , Osteocondrodisplasias/tratamento farmacológico
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