Effects of childhood obesity on ocular pulse amplitude and intraocular pressure / Efeitos da obesidade infantil na amplitude do pulso ocular e na pressão intraocular

ABSTRACT Purpose: To assess intraocular pressure and ocular pulse amplitude changes in obese children and adolescents using dynamic contour tonometry. Methods: 137 cases, 64 obese and 73 healthy children, who were both age-matched and gender-matched, comprised the study population in this cross-sectional study. Children with body mass index values >95% for sex and age were regarded as obese. Participants underwent detailed ophthalmological examinations, including intraocular pressure measurement using a Pascal dynamic contour tonometer. Relationships between intraocular pressure and ocular pulse amplitude measurements and age, sex, obesity, pubertal status, and insulin resistance were investigated. Results: Bilateral ocular pulse amplitude was lower while intraocular pressure was higher in the obese group than in the control group (p<0.001). No significant relationship was observed between insulin resistance and intraocular pressure or ocular pulse amplitude (p>0.005). No correlation was determined between systolic and diastolic blood pressure, homeostasis model assessment for insulin resistance, or blood lipid levels and intraocular pressure and ocular pulse amplitude. Conclusion: Our results show that obesity caused an increase in intraocular pressure and a decrease in ocular pulse amplitude independently of insulin resistance in children and adolescents. Prospective studies involving long-term follow-up of cases are now needed to assess the probable adverse effects of these ocular findings in obese children.

RESUMO Objetivo: Avaliar a pressão intraocular e as alterações da amplitude do pulso ocular em crianças e adolescentes obesos, usando tonometria de contorno dinâmico. Métodos: Um total de 137 casos, sendo 64 crianças obesas e 73 crianças saudáveis, pareadas por idade e sexo, compôs a população estudada neste estudo transversal. Crianças com valores de índice de massa corporal superior ao percentil de 95% para seu sexo e idade foram consideradas obesas. Os participantes foram submetidos a exames oftalmológicos detalhados, incluindo a medição da pressão intraocular com um tonômetro de contorno dinâmico Pascal. As relações entre a pressão intraocular e as medidas da amplitude do pulso ocular com a idade, sexo, obesidade, estado puberal e resistência à insulina foram investigadas. Resultados: A amplitude do pulso ocular bilateral foi menor no grupo obeso do que no grupo controle saudável (p<0,001), enquanto a pressão intraocular foi maior (p<0,001). Não foi observada nenhuma relação significativa entre a resistência à insulina e a pressão intraocular ou a amplitude de pulso ocular (p>0,005). Não foi determinada nenhuma correlação entre a pressão arterial sistólica e diastólica, a avaliação do modelo de homeostase para resistência à insulina ou os níveis de lipídios sanguíneos e a pressão intraocular e a amplitude de pulso ocular. Conclusão: Os resultados mostraram que a obesidade causou um aumento da pressão intraocular e uma diminuição da amplitude do pulso ocular em crianças e adolescentes, independentemente da resistência à insulina. São necessários agora estudos prospectivos envolvendo o seguimento de longo prazo dos casos, para avaliar os prováveis efeitos adversos desses achados oculares observados em crianças obesas.

Ellis-van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey.

Ellis-van Creveld syndrome 10-year-old Turkish girl and her parents were first degree cousins. A novel pathogenic variant (p.Glu1178Glyfs*82) was detected in the EVC2 gene in patient. She had no peg-shaped teeth, multiple frenula, and limb shortness.

Self-Concept, Depression, and Anxiety Levels of Adolescents with Polycystic Ovary Syndrome.

STUDY OBJECTIVE: In this study we explored the level and severity of issues related to self-concept, depression, and anxiety in adolescents with polycystic ovary syndrome (PCOS). DESIGN: Cross-sectional and case-control study. SETTING: The research was conducted in the outpatient Pediatric Endocrinology Clinic of Adiyaman University School of Medicine in Turkey. PARTICIPANTS: The study population comprised 153 patients with PCOS and 161 healthy adolescents. INTERVENTIONS AND MAIN OUTCOME MEASURES: The Personal Information Form, State-Trait Anxiety Inventory for Children, Children's Depression Inventory, and Piers-Harris Children's Self-Concept Scale were administered to all of the participants who took part in the study. RESULTS: The Piers-Harris Children's Self-Concept Scale scores were lower in the PCOS group than in the control group (P < .001). In addition, the scores for the Children's Depression Inventory were also significantly higher in the PCOS group (P < .001). The State-Trait Anxiety Inventory for Children scores showed statistically significant higher levels of state anxiety and trait anxiety in the PCOS group (P < .001). CONCLUSION: Adolescents with PCOS had lower self-concept scores, greater anxiety levels, and increased depressive symptoms than the healthy controls. Future studies are needed to examine the psychiatric problems in adolescents with PCOS.

Serum 25-hydroxyvitamin D is associated with insulin resistance independently of obesity in children ages 5-17.

AIM: To determine the association of vitamin D with insulin resistance and obesity in children. METHODS: A total of 92 obese and 58 non-obese children aged 5-17 years were evaluated. Data were collected related to anthropometric (weight, height), and biochemical parameters (fasting plasma glucose, serum insulin, serum 25-hydroxyvitamin D, lipid profile, vitamin B12, parathormone) and physical examination (blood pressure, acanthosis nigricans, stria, lipomastia). Insulin resistance (IR) was calculated using the homeostasis model assessment (HOMA). HOMA-IR = fasting insulin level (µU/ml) × fasting glucose (mg/dL)/405. A HOMA-IR value >2.5 was defined as insulin resistance. RESULTS: According to the US Endocrine Society classification, vitamin D deficiency (0-20 ng/ml) was determined at significantly higher rates in the obese group than in the control group (p < 0.001). The rate of subjects with a vitamin D level of 20-30 ng/ml was significantly lower in the obese group than in the control group (p < 0.001) Within the obese group a statistically significant difference was determined between the insulin resistant and non-insulin resistant groups in respect of serum 25-hydroxyvitamin D levels (p = 0.001) and vitamin B12 levels (p = 0.001). A significant negative correlation was determined between serum 25-hydroxyvitamin D and HOMA-IR (r=-0.256, p = 0.016) and insulin (r = -0.258, p = 0.015). The systolic blood pressure (p = 0.001) and diastolic blood pressure (p = 0.003) values were significantly different in the control and obese groups. A statistically significant difference was determined between the control and obese groups in terms of the levels of insulin, HOMA-IR, HbA1c, cortisol, LDL, total cholesterol, HDL, triglyceride, hemoglobin, MCV, MPV, and calcium. CONCLUSION: The prevalence of vitamin D deficiency was higher in obese children compared to normal-weight and overweight children. Serum 25(OH)D levels showed a negative correlation with insulin and HOMA-IR. Serum 25(OH)D is associated with insulin resistance independently of obesity.

Response to growth hormone treatment in very young patients with growth hormone deficiencies and mini-puberty.

BACKGROUND: The aim of the study was to assess the response to growth hormone (GH) treatment in very young patients with GH deficiency (GHD) through a national, multi-center study. Possible factors affecting growth response were assessed (especially mini-puberty). METHODS: Medical reports of GHD patients in whom treatment was initiated between 0 and 3 years of age were retrospectively evaluated. RESULTS: The cohort numbered 67. The diagnosis age was 12.4±8.6 months, peak GH stimulation test response (at diagnosis) as 1.0±1.4 ng/mL. The first and second years length gain was 15.0±4.3 and 10.4±3.4 cm. Weight gain had the largest effect on first year growth response; whereas weight gain and GH dose were both important factors affecting second year growth response. In the multiple pituitary hormone deficiency (MPHD) group (n=50), first year GH response was significantly greater than in the isolated GH deficiency (IGHD) group (n=17) (p=0.030). In addition first year growth response of infants starting GH between 0 and 12 months of age (n=24) was significantly greater than those who started treatment between 12 and 36 months of age (n=43) (p<0.001). These differences were not seen in the second year. Δ Length/height standard deviation score (SDS), Δ body weight SDS, length/height SDS, weight SDS in MPHD without hypogonadism for the first year of the GH treatment were found as significantly better than MPHD with hypogonadism. CONCLUSIONS: Early onsets of GH treatment, good weight gain in the first year of the treatment and good weight gain-GH dose in the second year of the treatment are the factors that have the greatest effect on length gain in early onset GHD. The presence of the sex steroid hormones during minipubertal period influence growth pattern positively under GH treatment (closer to the normal percentage according to age and gender).

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.

CONTEXT: Pituitary stalk interruption syndrome (PSIS) is a rare, congenital anomaly of the pituitary gland characterized by pituitary gland insufficiency, thin or discontinuous pituitary stalk, anterior pituitary hypoplasia, and ectopic positioning of the posterior pituitary gland (neurohypophysis). The clinical presentation of patients with PSIS varies from isolated growth hormone (GH) deficiency to combined pituitary insufficiency and accompanying extrapituitary findings. Mutations in HESX1, LHX4, OTX2, SOX3, and PROKR2 have been associated with PSIS in less than 5% of cases; thus, the underlying genetic etiology for the vast majority of cases remains to be determined. OBJECTIVE: We applied whole-exome sequencing (WES) to a consanguineous family with two affected siblings who have pituitary gland insufficiency and radiographic findings of hypoplastic (thin) pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pitiutary stalk-characteristic clinical diagnostic findings of PSIS. DESIGN AND PARTICIPANTS: WES was applied to two affected and one unaffected siblings. RESULTS: WES of two affected and one unaffected sibling revealed a unique homozygous missense mutation in GPR161, which encodes the orphan G protein-coupled receptor 161, a protein responsible for transducing extracellular signals across the plasma membrane into the cell. CONCLUSION: Mutations of GPR161 may be implicated as a potential novel cause of PSIS.