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Genomic imprinting is an epigenetic process regulated by germline-derived DNA methylation that is resistant to embryonic reprogramming, resulting in parental origin-specific monoallelic gene expression. A subset of individuals affected by imprinting disorders (IDs) displays multi-locus imprinting disturbances (MLID), which may result from aberrant establishment of imprinted differentially methylated regions (DMRs) in gametes or their maintenance in early embryogenesis. Here we investigated the extent of MLID in a family harbouring a ZFP57 truncating variant and characterize the interactions between human ZFP57 and the KAP1 co-repressor complex. By ectopically targeting ZFP57 to reprogrammed loci in mouse embryos using a dCas9 approach, we confirm that ZFP57 recruitment is sufficient to protect oocyte-derived methylation from reprogramming. Expression profiling in human pre-implantation embryos and oocytes reveals that unlike in mice, ZFP57 is only expressed following embryonic-genome activation, implying that other KRAB-zinc finger proteins (KZNFs) recruit KAP1 prior to blastocyst formation. Furthermore, we uncover ZNF202 and ZNF445 as additional KZNFs likely to recruit KAP1 to imprinted loci during reprogramming in the absence of ZFP57. Together, these data confirm the perplexing link between KZFPs and imprint maintenance and highlight the differences between mouse and humans in this respect.
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Metilação de DNA , Embrião de Mamíferos/metabolismo , Impressão Genômica , Células Germinativas/metabolismo , Oócitos/metabolismo , Proteínas Repressoras/metabolismo , Síndrome de Beckwith-Wiedemann/metabolismo , Estudos de Coortes , DNA (Citosina-5-)-Metiltransferases/metabolismo , DNA Metiltransferase 3A , Humanos , Análise em Microsséries , Mutação , Linhagem , Pseudo-Hipoparatireoidismo/metabolismo , RNA-Seq , Proteínas Repressoras/genética , Irmãos , Transcriptoma , Proteína 28 com Motivo TripartidoRESUMO
Background/Objectives: Develop a clinical and genetic characterization, in a group of small-for-gestational-age (SGA) patients who did not experience catch-up growth Methods: In an ambispective cohort study with (SGA) patients. These patients received one treatment with growth hormone (GH) over 14 years. This study analyzes their response to treatment and conducts a genetic analysis in order to identify cases with specific phenotypic and auxological characteristics, defined as presenting two or more dysmorphic traits and/or a stature below -3 SDS (standard deviation score). Whole-exome sequencing (WES) was performed on selected patients. Results: Forty-four SGA patients were examined, with an average age of 6.4 (2.49) years and an initial size of -3.3 SDS. The pubertal growth was 24.1 (5.2) cm in boys and 14.7 (4.3) cm in girls. WES in 11 SGA patients revealed conclusive genetic variants in eight, including two pathogenic ACAN variants, one 15q26.2-q26.3 deletion, and four variants of uncertain significance in other genes. Conclusions: Treatment with GH in SGA patients was shown to be effective, with a similar response in the group with positive genetic results and in the group who did not undergo a genetic study. Genetic testing based on auxological and clinical criteria proved highly cost-effective.
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Molecular study has become an invaluable tool in the field of RASopathies. Treatment with recombinant human growth hormone is approved in Noonan syndrome but not in the other RASopathies. The aim of this study was to learn about the molecular base of a large cohort of patients with RASopathies, with particular emphasis on patients with pathogenic variants in genes other than PTPN11, and its potential impact on rGH treatment indication. We reviewed the clinical diagnosis and molecular findings in 451 patients with a genetically confirmed RASopathy. HRAS alterations were detected in only 2 out of 19 patients referred with a Costello syndrome suspicion, whereas pathogenic variants in RAF1 and SHOC2 were detected in 3 and 2, respectively. In 22 patients referred with a generic suspicion of RASopathy, including cardiofaciocutaneous syndrome, pathogenic alterations in classic Noonan syndrome genes (PTPN11, SOS1, RAF1, LZTR1, and RIT1) were found in 7 patients and pathogenic variants in genes associated with other RASopathies (HRAS, SHOC2, and PPPCB1) in 4. The correct nosological classification of patients with RASopathies is critical to decide whether they are candidates for treatment with rhGH. Our data illustrate the complexity of differential diagnosis in RASopathies, as well as the importance of genetic testing to guide the diagnostic orientation in these patients.
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BACKGROUND: The integration of continuous glucose monitoring systems with insulin infusion pumps has shown improved glycemic control, with improvements in hyperglycemia, hypoglycemia, Hb1Ac, and greater autonomy in daily life. These have been most studied in adults and there are currently not many articles published in the pediatric population that establish their correlation with age of debut. METHODS: Prospective, single-study. A total of 28 patients (mean age 12 ± 2.43 years, 57% male, duration of diabetes 7.84 ± 2.46 years) were included and divided into two groups according to age at T1D onset (≤4 years and >4 years). Follow-up for 3 months, with glucometric variables extracted at different cut-off points after the start of the closed-loop (baseline, 1 month, 3 months). RESULTS: Significant improvement was evidenced at 1 month and 3 months after closed-loop system implantation, with better glycemic control in the older age group at baseline at TIR (74.06% ± 6.37% vs. 80.33% ± 7.49% at 1 month, p < 0.003; 71.87% ± 6.58% vs. 78.75% ± 5.94% at 3 months, p < 0.009), TAR1 (18.25% ± 4.54% vs. 14.33% ± 5.74% at 1 month, p < 0.006; 19.87% ± 5.15% vs. 14.67% ± 4. 36% at 3 months, p < 0.009) and TAR2 (4.75% ± 2.67% vs. 2.75% ± 1.96% at 1 month, p = 0.0307; 5.40% ± 2.85% vs. 3% ± 2.45% at 3 months, p < 0.027). CONCLUSIONS: the use of automated systems such as the MiniMedTM780G system brings glucometric results closer to those recommended by consensus, especially in age at T1D onset >4 years. However, the management in pediatrics continues to be a challenge even after the implementation of these systems, especially in terms of hyperglycemia and glycemic variability.
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Although the prevalence of pediatric obesity is rising, understanding of the perceptions, attitudes, behaviors, and barriers to effective obesity care among Spanish adolescents living with obesity (ALwO), their caregivers, and healthcare professionals (HCPs) is lacking. In 2021, the cross-sectional ACTION Teens survey study was conducted in 10 countries; results from the Spanish cohort are presented herein. The survey was completed by 648 ALwO, 644 caregivers, and 251 HCPs in Spain. A total of 25% of ALwO and 43% of caregivers thought that their/their child's weight was normal, and more caregivers than ALwO perceived the ALwO's health to be at least good (95% vs. 59%, respectively). Only 53% of ALwO and 9% of caregivers reported receiving an obesity diagnosis, despite HCPs reporting they provide diagnoses to 87% of ALwO/caregivers. Although 65% of HCPs felt that ALwO may not be comfortable discussing weight, only 26% of ALwO who had discussed weight with an HCP (n = 488) reported not feeling comfortable. Inability to control hunger was a key barrier to ALwO losing weight identified by ALwO/caregivers, but not HCPs. Improved communication between the three groups, a better understanding of barriers to weight loss, and improved health education on obesity are needed in order to enhance obesity care in Spain.
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Cuidadores , Obesidade Infantil , Criança , Humanos , Adolescente , Espanha/epidemiologia , Estudos Transversais , Obesidade Infantil/epidemiologia , Obesidade Infantil/terapia , Pessoal de Saúde , Atitude , Atenção à SaúdeRESUMO
WHAT IS THIS SUMMARY ABOUT?: This is a summary of a research survey called ACTION Teens. In our survey, 12,987 people from 10 countries answered questions about obesity. They were: 5275 teenagers with obesity, 5389 caregivers of teenagers with obesity, and 2323 doctors who provide medical care for teenagers with obesity. WHAT WERE THE MAIN RESULTS OF THE SURVEY?: Most teenagers with obesity were worried about their weight and thought that losing weight was their responsibility. Many teenagers had already tried to lose weight. For teenagers, wanting to be more fit or in better shape was the top reason for wanting to lose weight. Some caregivers did not realize how worried their teenager was about their own weight. There were also some caregivers who were not aware of their teenager's recent attempts to lose weight. As a group, the doctors did not know the main reasons why teenagers want to lose weight. They also did not know the main reasons preventing teenagers from losing weight. WHAT DO THE RESULTS OF THE SURVEY MEAN?: Teenagers with obesity will be better supported and understood if there is better communication between teenagers, caregivers, and doctors. Clinical Trial Registration: NCT05013359 (ClinicalTrials.gov).
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Cuidadores , Obesidade , Humanos , Adolescente , Obesidade/epidemiologia , Obesidade/terapia , Idioma , Redução de Peso , Atenção à SaúdeRESUMO
Objective: The objective was to analyze the efficacy of recombinant human growth hormone (rhGH) treatment in children born small for gestational age (SGA) without catch-up growth treated before the onset of puberty, with follow-up until adult height. The influence of demographic and auxological factors on the final response evaluated as adult height and height gain was assessed. Patients and methods: A prospective longitudinal observational study performed in a tertiary hospital, involving SGA patients, who started treatment with rhGH between October 2003 and April 2015. Potential response predictors were evaluated by multiple regression analysis and receiver operating characteristic curves. Results: Of the initial 96 patients included, 61 patients (28 boys and 33 girls) reached adult height. Adult height gain in standard deviation (SDS) was 0.99 (0.8) and 1.49 (0.94), respectively (p < 0.05). An adult height greater than -2 SDS was reached in 75% of the girls but only in 53% of the boys. The pubertal height gain was 22.6 (5.8) cm in boys and 18.8 (4.5) cm in girls. The multiple regression model obtained for total height gain explained 42% of the variability in this variable including sex, height gain during the first year, and the difference from target height at the start of treatment. A first-year height gain of 0.69 SDS was the optimal point for assessing a final height gain greater than 1.5 SDS with a specificity of 70% and a sensitivity of 71%. Conclusion: Most SGA patients achieve normalization of height above -2 SD, the percentage being higher in girls. According to our predictive model, height gain in the first year is the most important variable for predicting good response to treatment. During puberty, there is a loss of height SDS, probably due to a lower total pubertal gain with respect to the reference population, which is more marked in boys.
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AIMS: To evaluate the relationship between daily sensor scan rates and changes in HbA1c and hypoglycemia in children. METHODS: We enrolled 145 paediatric T1D patients into a prospective, interventional study of the impact of the FreeStyle Libre 1 system on measures of glycemic control. RESULTS: HbA1c was higher at lower scan rates, and decreased as the scan rate increased to 15-20 scans, after which it rose at higher scan rates. An analysis of the change in hypoglycemia, based on the number of daily sensor scans, showed there was a significant correlation between daily scan rates and hypoglycemia. Subjects with higher daily scan rates reduced all levels of hypoglycaemia. CONCLUSIONS: HbA1c is higher at lower scan rates, and decreases as scan rate increases. Reductions in hypoglycemia were evident in subjects with higher daily scan rates.
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Some people, including minors, have a gender identity that does not correspond to the sex assigned at birth. They are known as trans* people, which is an umbrella term that encompasses transgender, transsexual, and other identities not conforming to the assigned gender. Healthcare units for trans* minors require multidisciplinary working, undertaken by personnel expert in gender identity, enabling, when requested, interventions for the minor and their social-familial environment, in an individualized and flexible way during the gender affirmation path. This service model also includes hormonal treatments tailored as much as possible to the individual's needs, beyond the dichotomic goals of a traditional binary model. This guide addresses the general aspects of professional care of trans* minors and presents the current evidence-based protocol of hormonal treatments for trans* and non-binary adolescents. In addition, it details key aspects related to expected body changes and their possible side effects, as well as prior counselling about fertility preservation.
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Disforia de Gênero , Guias de Prática Clínica como Assunto , Pessoas Transgênero , Transexualidade , Adolescente , Feminino , Disforia de Gênero/tratamento farmacológico , Identidade de Gênero , Humanos , Masculino , Menores de Idade , Transexualidade/terapiaRESUMO
INTRODUCTION: Analysis of the impact on severe hypoglycaemia and direct costs of the introduction of the FreeStyle Libre sensor in paediatric population with type 1 Diabetes Mellitus. MATERIAL AND METHODS: Ambispective single-centre study to assess the impact on severe hypoglycaemia and direct costs, focusing on consumption of materials, in paediatric population with type 1 Diabetes Mellitus before and after introduction of the FreeStyle Libre 1 sensor. RESULTS: A significant decrease was found in episodes of severe hypoglycaemia, with 4.2 episodes of severe hypoglycaemia per 100 patients under follow-up versus 0.25 episodes per 100 patients a year after introduction of the system. This represents a cost difference for severe hypoglycaemia, estimated at 6559.52 before introduction and 409.97 after introduction of the FreeStyle Libre sensor. We found a decrease in the daily consumption of capillary blood glucose strips, which translates as a decrease in the cost of materials and helps mitigate the cost of the sensor. The cost in materials for the patient with FreeStyle Libre was 185.13 per patient and year higher than conventional control with capillary blood glucose strips.
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Diabetes Mellitus Tipo 1 , Hipoglicemia , Criança , Humanos , Glicemia , Hipoglicemiantes/uso terapêutico , Custos de Cuidados de SaúdeRESUMO
BACKGROUND: There is limited evidence regarding the experiences, challenges, and needs of adolescents living with obesity (ALwO), their caregivers, and healthcare professionals (HCPs). OBJECTIVES: The cross-sectional, survey-based global ACTION Teens study aimed to identify perceptions, attitudes, behaviours, and barriers to effective obesity care among ALwO, caregivers of ALwO, and HCPs. METHODS: ALwO (aged 12 to <18 years; N = 5275), caregivers (N = 5389), and HCPs treating ALwO (N = 2323) from 10 countries completed an online survey (August-December 2021). RESULTS: Most ALwO perceived their weight as above normal (76% vs. 66% of caregivers), were worried about its impact on their health (85% vs. 80% of caregivers), and recently made a weight loss attempt (58%). While 45% of caregivers believed ALwO would slim down with age, only 24% of HCPs agreed. Most commonly reported weight loss motivators for ALwO were wanting to be more fit/in better shape according to ALwO (40%) and caregivers (32%), and improved confidence/social life according to HCPs (69%). ALwO weight loss barriers included lack of hunger control (most commonly reported by ALwO/caregivers), lack of motivation, unhealthy eating habits (most commonly agreed by HCPs), and lack of exercise. CONCLUSIONS: Misalignment between ALwO, caregivers, and HCPs-including caregivers' underestimation of the impact of obesity on ALwO and HCPs' misperception of key motivators/barriers for weight loss-suggests a need for improved communication and education.
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Cuidadores , Obesidade Infantil , Adolescente , Atitude do Pessoal de Saúde , Estudos Transversais , Humanos , Obesidade Infantil/epidemiologia , Obesidade Infantil/prevenção & controle , Redução de PesoRESUMO
INTRODUCTION: Treatment with growth hormone (GH) is not approved for idiopathic short stature (ISS) in Europe. OBJECTIVES: To compare the growth of children treated with isolated GH deficiency (IGHD) vs. ISS-treated and untreated children. METHODS: A retrospective descriptive study of patients treated in the last 14 years for IGHD (Group A), in comparison with ISS-treated (Group B) and untreated (Group C) subjects. RESULTS: Group A had 67 males, who showed a height gain of 1.24 SD. Group B had 30 boys, who showed a height gain of 1.47 SD. Group C had 42 boys, who showed an improvement of 0.37 SD. The final heights were -1.52 SD, -1.31 SD, and -2.03 SD, respectively. Group A and C did not reach their target heights (with differences of 0.27 SD and 0.59 SD, respectively). Group B surpassed their target height by 0.29 SD. CONCLUSIONS: The final heights of the IGHD and treated ISS are similar. Treated groups were taller than untreated groups.
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BACKGROUND: Good metabolic control of Type 1 diabetes (T1D) leads to a reduction in complications. The only validated parameter for establishing the degree of control is glycated hemoglobin (HbA1c). We examined the relationship between HbA1c and a continuous glucose monitoring (CGM) system. MATERIALS AND METHODS: A cohort prospective study with 191 pediatric patients with T1D was conducted. Time in range (TIR), time below range (TBR), coefficient of variation (CV), number of capillary blood glucose tests, and HbA1c before sensor insertion and at one year of use were collected. RESULTS: Patients were classified into five groups according to HbA1c at one year of using CGM. They performed fewer capillary blood glucose test at one year using CGM (-6 +/- 2, p < 0.0001). We found statistically significant differences in TIR between categories. Although groups with HbA1c < 6.5% and HbA1c 6.5-7% had the highest TIR (62.214 and 50.462%), their values were highly below optimal control according to CGM consensus. Groups with TBR < 5% were those with HbA1c between 6.5% and 8%. CONCLUSIONS: In our study, groups classified as well-controlled by guidelines were not consistent with good control according to the CGM consensus criteria. HbA1c should not be considered as the only parameter for metabolic control. CGM parameters allow individualized targets.
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INTRODUCTION: Diabetes mellitus 1 is the second most frequent chronic disease, and the most frequent endocrine-metabolic disorder in childhood. The estimated prevalence is between 1.1 and 1.4 / 1000 children under 15 years years-old. In Andalusia the prevalence is higher (1.7 per thousand). The objective of the study is to evaluate health-related quality of life (HRQoL) and adherence to treatment, specifically in the paediatric population of Andalusia. METHODS: A multicentre cross-sectional observational analytical study was conducted on a sample of 178 patients from six hospitals with a Paediatric Endocrinology Unit. Each patient received two questionnaires; quality of life (PedsQL version 3.0) and adherence to the self-care recommendations (SCI-R) treatment. The demographic, clinical, metabolic control data, and possible complications were also collected. RESULTS: High levels were obtained in both adherence and health-related quality of life (HRQoL). Adherence was inversely related to age and HbA1c. The health-related quality of life (HRQoL) was associated with the use of a continuous real-time glucose monitoring system (MCG-TR) combined with continuous subcutaneous insulin infusion (CSII), as well as with a lower number of severe hypoglycaemia and renal complications. The mean HbA1c was 7.1%. 12,9% of patients used ISCI. 83.2% used capillary glycemia exclusively, while 16.8% used some interstitial glucose monitoring device. CONCLUSIONS: This is the first study in Andalusia that analyzes the health-related quality of life (HRQoL) of pediatric patients. The results show high levels of adherence and health-related quality of life (HRQoL), as well as good metabolic control.
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Diabetes Mellitus Tipo 1 , Cooperação do Paciente , Qualidade de Vida , Adolescente , Glicemia , Automonitorização da Glicemia , Criança , Pré-Escolar , Estudos Transversais , Diabetes Mellitus Tipo 1/tratamento farmacológico , Humanos , Hipoglicemiantes/uso terapêutico , Autocuidado , Espanha/epidemiologiaRESUMO
Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by macroglossia, macrosomia, and abdominal wall defects. It is a multigenic disorder caused in most patients by alterations in growth regulatory genes. A small number of individuals with BWS (5-10%) have mutations in CDKN1C, a cyclin-dependent kinase inhibitor of G1 cyclin complexes that functions as a negative regulator of cellular growth and proliferation. Here, we report on eight patients with BWS and CDKN1C mutations and review previous reported cases. We analyzed 72 patients (50 BWS, 17 with isolated hemihyperplasia (IH), three with omphalocele, and two with macroglossia) for CDKN1C defects with the aim to search for new mutations and to define genotype-phenotype correlations. Our findings suggest that BWS patients with CDKN1C mutations have a different pattern of clinical malformations than those with other molecular defects. Polydactyly, genital abnormalities, extra nipple, and cleft palate are more frequently observed in BWS with mutations in CDKN1C. The clinical observation of these malformations may help to decide which genetic characterization should be undertaken (i.e., CDKN1C screening), thus optimizing the laboratory evaluation for BWS.
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Síndrome de Beckwith-Wiedemann/genética , Inibidor de Quinase Dependente de Ciclina p57/genética , Adulto , Criança , Pré-Escolar , Inibidor de Quinase Dependente de Ciclina p57/química , Feminino , Genótipo , Humanos , Lactente , Masculino , Mutação , Fenótipo , Polimorfismo Genético , Conformação ProteicaRESUMO
CONTEXT: Mutations in cytochrome P450 oxidoreductase (POR) cause a form of congenital adrenal hyperplasia (CAH). We report a novel R550W mutation in POR identified in a 46,XX patient with signs of aromatase deficiency. OBJECTIVE: Analysis of aromatase deficiency from the R550W mutation in POR. DESIGN, SETTING, AND PATIENT: Both the child and the mother had signs of virilization. Ultrasound revealed the presence of uterus and ovaries. No defects in CYP19A1 were found, but further analysis with a targeted Disorders of Sexual Development NGS panel (DSDSeq.V1, 111 genes) on a NextSeq (Illumina) platform in Madrid and Barcelona, Spain, revealed compound heterozygous mutations c.73_74delCT/p.L25FfsTer93 and c.1648C > T/p.R550W in POR. Wild-type and R550W POR were produced as recombinant proteins and tested with multiple cytochrome P450 enzymes at University Children's Hospital, Bern, Switzerland. MAIN OUTCOME MEASURE AND RESULTS: POR-R550W showed 41% of the WT activity in cytochrome c and 7.7% activity for reduction of MTT. Assays of CYP19A1 showed a severe loss of activity, and CYP17A1 as well as CYP21A2 activities were also lost by more than 95%. Loss of CYP2C9, CYP2C19, and CYP3A4 activities was observed for the R550W-POR. Predicted adverse effect on aromatase activity as well as a reduction in binding of NADPH was confirmed. CONCLUSIONS: Pathological effects due to POR-R550W were identified, expanding the knowledge of molecular pathways associated with aromatase deficiency. Screening of the POR gene may provide a diagnosis in CAH without defects in genes for steroid metabolizing enzymes.
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Transtornos 46, XX do Desenvolvimento Sexual/patologia , Hiperplasia Suprarrenal Congênita/patologia , Aromatase/deficiência , Aromatase/genética , Mutação , Transtornos 46, XX do Desenvolvimento Sexual/genética , Hiperplasia Suprarrenal Congênita/genética , Criança , Feminino , Humanos , Masculino , Linhagem , Fenótipo , PrognósticoRESUMO
Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features. NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called LEOPARD syndrome), cardiofaciocutaneous syndrome, or Costello syndrome, are caused by mutations in genes encoding proteins of the RAS-MAPKinases pathway. Because of this shared mechanism, these conditions have been collectively termed «RASopathies¼. Despite the recent advances in molecular genetics, nearly 20% of patients still lack a genetic cause, and diagnosis is still made mainly on clinical grounds. NS is a clinically and genetically heterogeneous condition, with variable expressivity and a changing phenotype with age, and affects multiple organs and systems. Therefore, it is essential that physicians involved in the care of these patients are familiarised with their manifestations and the management recommendations, including management of growth and development. Data on growth hormone treatment efficacy are sparse, and show a modest response in height gains, similar to that observed in Turner syndrome. The role of RAS/MAPK hyper-activation in the pathophysiology of this group of disorders offers a unique opportunity for the development of targeted approaches.
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Síndrome de Noonan , Diagnóstico Diferencial , Marcadores Genéticos , Genótipo , Humanos , Proteínas Quinases Ativadas por Mitógeno/genética , Mutação , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/genética , Síndrome de Noonan/fisiopatologia , Síndrome de Noonan/terapia , Fenótipo , Proteínas Proto-Oncogênicas p21(ras)/genéticaRESUMO
INTRODUCTION: Protocol for prescribing hormone replacement therapy in isolated growth hormone (GH) deficiency includes magnetic resonance imaging of the brain. There is controversy on the frequency of structural pituitary abnormalities and on the importance of abnormal MRI findings on prognosis and response to GH replacement. METHODS: A descriptive, retrospective study of children of both sexes aged 0-14 years, who had undergone brain MRI, diagnosed with isolated GH deficiency at a tertiary hospital in the past 14 years, aimed at reporting the frequency of abnormal MRI findings in isolated GH deficiency, and to establish whether differences exist in height diagnosis and evolution according to MRI findings. MRI findings were also compared with the findings reported in healthy children in order to establish incidence. RESULTS: 96 patients were studied, of whom 74/96 (77%) reached adult age. Abnormal MRI findings were seen in 11.5% of them (8/11 of pituitary origin). No brain or pituitary tumor was seen in any case. Patients with abnormal images had a mean age at treatment start of 8 years, a target height of -0.8SD, and a final height of 1.04SD, while patients with normal MRI findings had an age at treatment start of 10 years old, a target height of -1.44SD, and a final height of -1.75SD, with statistically significant differences. CONCLUSIONS: Patients with abnormal MRI findings show a more favorable response to GH replacement therapy.
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Encéfalo/diagnóstico por imagem , Nanismo Hipofisário/tratamento farmacológico , Terapia de Reposição Hormonal , Hormônio do Crescimento Humano/uso terapêutico , Imageamento por Ressonância Magnética , Hipófise/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Nanismo Hipofisário/diagnóstico por imagem , Feminino , Humanos , Lactente , Masculino , Estudos RetrospectivosRESUMO
OBJETIVE: The aim of this study was to examine the quality of life, anxiety and affectivity in children and adolescents with type 1 diabetes (T1D) and in their parents after participating in a diabetes summer camp. METHOD: A total of 20 children and adolescents with T1D, aged 8-14, and their parents participated. The study design was quasi-experimental longitudinal with an intra-subject factor with two measurements (pre/post), and an inter-group factor (child/parent). RESULTS: After attending camp, a significantly increased quality of life, demonstrated by the emotional well-being and self-esteem scores, was found in the children but not in the parents. Less negative affectivity and an improvement in positive affectivity was seen in the parents, but not in the children. Differences in anxiety were found in both the children and the parents. CONCLUSIONS: This research presents empirical evidence of the benefits of participation in a diabetes camp in both children and their parents.
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Ansiedade/epidemiologia , Acampamento , Diabetes Mellitus Tipo 1 , Pais/psicologia , Qualidade de Vida , Adolescente , Criança , Diabetes Mellitus Tipo 1/terapia , Feminino , Humanos , Estudos Longitudinais , MasculinoRESUMO
INTRODUCTION: Growth in patients with isolated growth hormone (GH) deficiency is heterogeneous despite treatment due to the low specificity of diagnostic tests, making it necessary to define efficacy variables. AIMS: To evaluate efficacy of hormone replacement therapy in children with isolated GH deficiency. METHODS: Observational-ambispective study of patients treated in our department in the last 14 years for isolated GH deficiency. This was defined as a GH level less than 7.4mg/dl in response to 2 stimulation tests in patients with height<2SD and a decreased growth rate. RESULTS: The study included a total 97 patients, of whom 69% were boys. The large majority (89.58%) achieved final height. None of them had side effects. The median dose of GH used was 0.028mg/kg/day (0.03-0.025). There was a gain of 1.17 SD in final height. Around three-quarters (71.13%) of the patients were reassessed in adulthood, of whom 39.4% maintained the deficiency, and 79.31% achieved target range height. Target height, estimated height, and the total pubertal gain were positively correlated with final height, while the bone age/chronological age ratio and the initial insulin-like growth factor-1 showed a negative correlation. CONCLUSIONS: A majority of patients reached target size, although only a few of them maintained the deficiency in adulthood. Target size, estimated adult height, and pubertal variables are directly related to adult height, while bone age/chronological age and insulin-like growth factor-1 were inversely related, and these can be used as efficacy variables. No adverse effects were observed in the sample with the doses used for the treatment.