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This study aimed to evaluate the role of real-time three-dimensional (known as four-dimensional) echocardiography and three-dimensional speckle-tracking echocardiography for the early detection of left ventricular systolic dysfunction in asymptomatic children with type 1 diabetes mellitus. This cross-sectional study included 38 patients (mean age 15.4 ± 2.9, 42.1% male) and 38 age, gender, and body measurements matched healthy children. Each patient underwent an interview about medical history, a detailed clinical examination, blood laboratory tests, conventional echocardiography, and tissue Doppler imaging. Left ventricular ejection fraction; global longitudinal, circumferential, radial strain; twist; and torsion were measured by real-time three-dimensional and speckle-tracking echocardiography. Conventional echocardiography and tissue Doppler imaging showed normal left ventricular systolic function in the patients. Although left ventricular ejection fraction (61.6 ± 1.4%, 61.8 ± 1.1%, p = 0.386), global longitudinal [-26.6 (-27.7 to -26.1)%, -26.2 (-27.7 to -24.9)%, p = 0.224], and radial strain [44.4 (42.4-45.9)%, 43.9 (41-46.1)%, p = 0.513] were similar to the controls, circumferential strain (-27.3 ± 1.3%, -28.0 ± 1.6%, p = 0.048) and twist (9.5 ± 2.3°, 11.4 ± 3.0°, p = 0.003) were decreased in the patients compared with controls. We found that even in children with asymptomatic type 1 diabetes mellitus with normal left ventricular ejection fraction, circumferential function was impaired and rotation pattern was changed. This novel echocardiographic method might be an important tool for detecting left ventricular systolic dysfunction in type 1 diabetes mellitus children before it becomes overt on conventional echocardiography and tissue Doppler imaging.

Background Hypothyroxinemia is defined by low levels of thyroxine (T4) despite low or normal levels of thyroid-stimulating hormone (TSH). This study aimed to evaluate the factors associated with transient hypothyroxinemia of prematurity (THOP) in newborns admitted to the neonatal intensive care unit (NICU). Method This is a single center, retrospective, case-control study. Premature newborns, between 24 and 34 weeks of gestation, hospitalised between January 2014–December 2019 in Istanbul University-Cerrahpasa Faculty of Medicine NICU were analyzed through their medical records. Thyroid function tests were routinely performed between the 10th and 20th days of postnatal life and were evaluated according to the gestational age references. Thirty six possible associated factors (prenatal and postnatal parameters, medical treatments, clinical diagnoses and applications in NICU) were searched in the patient group with THOP ( n  = 71) and the control group with euthyroid prematures ( n  = 73). The factors for THOP were identified by univariate analysis, followed by multivariate analysis. Results Mean gestational ages of the study and the control groups were 29.7 ± 2.48 and 30.5 ± 2.30 weeks, respectively ( p  = 0.606). The birth weight, small for gestational age (SGA), intraventricular hemorrhage (IVH), congenital heart disease (CHD) were found to be the possible associated factors for THOP in the univariate analysis and CHD ( p  = 0.007, odds ratio [OR]:4.9, 95% confidence interval [CI]: 1.5–15.8), BW ( p  = 0.004, OR:0.999, 95% CI: 0.9–1.0) and SGA ( p  = 0.010, OR:4.6, 95% CI: 1.4–14.7) were found to be factors associated with THOP determined by univariate logistic regression analysis. Conclusıons Although some treatment practices might have had direct effects on pituitary–thyroid axis, related with the severity of the newborn clinical conditions, non of them was found to be a associated factor for THOP. However, CHD and SGA may be considered as associated factors with THOP detected in preterm infants.

Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by absent puberty and subsequent infertility due to gonadotropin-releasing hormone (GnRH) deficiency. IHH can be accompanied by normal or compromised olfaction (Kallmann syndrome). Several semaphorins are known potent modulators of GnRH, olfactory, and vomeronasal system development. In this study, we investigated the role of Semaphorin-3F signaling in the etiology of IHH. We screened 216 IHH patients by exome sequencing. We transiently transfected HEK293T cells with plasmids encoding wild type (WT) or corresponding variants to investigate the functional consequences. We performed fluorescent IHC to assess SEMA3F and PLXNA3 expression both in the nasal region and at the nasal/forebrain junction during the early human fetal development. We identified ten rare missense variants in SEMA3F and PLXNA3 in 15 patients from 11 independent families. Most of these variants were predicted to be deleterious by functional assays. SEMA3F and PLXNA3 are both expressed along the olfactory nerve and intracranial projection of the vomeronasal nerve/terminal nerve. PLXNA1-A3 are expressed in the early migratory GnRH neurons. SEMA3F signaling through PLXNA1-A3 is involved in the guidance of GnRH neurons and of olfactory and vomeronasal nerve fibers in humans. Overall, our findings suggest that Semaphorin-3F signaling insufficiency contributes to the pathogenesis of IHH.

Dear Editor; I have reviewed the letter to the editor regarding \"Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene\". I appreciate authors' interest and contributions to our report about 2 cases with LHCGR gene mutations. We have reported two cases with similar clinical features suggesting peripheral precocious puberty, one with a novel and one with a known mutation in LHCGR gene leading to activation of the receptor. It is well known that the management of these patients is quite difficult because of uncontrolled testosterone secretion from the testes which is the main reason for precocious pubertal signs. We initially started bicalutamide and anastrozole treatments in both of our patients, as bicalutamide treatment had been tried in similar cases as a potent antiandrogen (1). However, in the follow-up, bone age advancement continued rapidly with the pubertal progression in both patients. Additionally, serum testosterone levels were still in high range (~400-800 ng/dL) without significant decline. We changed our treatment regimen to ketoconazole and anastrozole because we could not cease the pubertal and bone age advancement that were also associated with high testosterone levels. Unequivocally, we treat the patient not the laboratory results, but we cannot deny the testosterone effect on the clinic. Testosterone is responsible for the appearance of secondary sexual characteristics, whereas estrogen is the hormone responsible for the epiphyseal maturation which is converted from testosterone by aromatization. High testosterone levels are associated with bone age advancement. Evaluation of pubertal progression and bone age advancement associated with serum testosterone levels are important indicators for treatment monitoring (2,3). In conclusion, we could not get any benefit from bicalutamide treatment in our patients, whereas ketoconazole treatment is promising in short term. Overall, 'successful treatment' can only be evaluated in long-term follow-up of these patients. Peer-review: Internal peer-reviewed. Financial Disclosure: The authors declared that this study has received no financial support. References 1. Lenz AM, Shulman D, Eugster EA, Rahhal S, Fuqua JS, Pescovitz OH, Lewis KA. Bicalutamide and third-generation aromatase inhibitors in testotoxicosis. Pediatrics 126:e728-733. 2. Palmert MR, Dunkel L, Witchel SM. 2014 Puberty and its disorders in the male. In: A SM, ed. Pediatric Endocrinology. 4th ed. Philadelphia, PA: Elsevier Saunders; 2014;697-733. 3. Styne D. 2011 Puberty. In: Gardner G, Dolores, S. ed. Greenspan's basic and clinical endocrinology: McGraw-Hill Companies; 527-552.

BackgroundThe aim of the study is to identify the effect of salt intake and diabetes itself on blood pressure (BP) profile and microalbuminuria in children with type one diabetes mellitus (T1DM). Our hypothesis is that higher amount of salt consumption and/or hyperglycemia may impair blood pressure pattern in children with T1DM.MethodsThis cross-sectional study included 84 children and adolescents with T1DM (62% females, age 13.9 ± 3.2 years, disease duration 7.3 ± 3.1 years, 43% poorly controlled diabetes) and 54 aged- and sex-matched healthy children with an adequately collected 24-h urine samples. Urine sodium, creatinine, and microalbumin were measured and salt intake was assessed on the basis of sodium excretion in 24-h urine. Blood pressure profile of the children with T1DM was evaluated with 24-h ambulatory blood pressure monitoring.ResultsCompared to the children with well-controlled diabetes, children with poorly controlled diabetes had significantly higher standard deviation scores (SDS) of nighttime systolic BP (0.22 ± 1.28 vs − 0.87 ± 0.76, p = 0.003) and lower dipping in diastole (13.4 ± 5.9 vs 18.4 ± 8.1, p = 0.046). Among T1DM group, children with the highest quartile of salt intake had higher nighttime systolic and diastolic BP-SDS (0.53 ± 1.25 vs − 0.55 ± 0.73, p = 0.002 and 0.89 ± 1.19 vs 0.25 ± 0.63, p = 0.038, respectively) and lower dipping in systole compared to their counterparts (7.7 ± 5.0 vs 11.5 ± 6.1, p = 0.040). High averaged HbA1c was independently associated with higher both daytime and nighttime systolic BP-SDS (p = 0.010, p < 0.001) and nighttime diastolic BP-SDS (p = 0.001), and lower diastolic dipping (p = 0.001). High salt intake was independently associated with higher nighttime systolic BP-SDS (p = 0.002) and lower systolic dipping (p = 0.019). A 24-h MAP-SDS was the only independent risk factor for microalbuminuria (p = 0.035).ConclusionBeside poor diabetic control, high salt consumption appears to be an important modifiable risk factor for impaired BP pattern, which contributes to the development of diabetic kidney disease in children with T1DM.

Background Transient hypothyroxinemia of prematurity (THOP) is defined as a low level of circulating thyroxine (T4), despite low or normal thyroid-stimulating hormone (TSH) levels. Aims: We aimed to evaluate the incidence of THOP, the clinical and laboratory findings of preterm infants with this condition and the levothyroxine (L-T4) treatment. Methods Preterm infants ( n  = 181) delivered at 24–34 weeks of gestation were evaluated by their thyroid function tests that were performed between the 10 th and 20 th days of postnatal life and interpreted according to the gestational age (GA) references. Clinical and laboratory characteristics of the patients with THOP and normal thyroid function tests were compared. Patients with THOP and treated with L-T4 were compared with the ones who were not regarding laboratory, and clinical characteristics. Results Incidence of hypothyroxinemia of prematurity was 45.8% ( n  = 83). Euthyroidism, primary hypothyroidism, and subclinical hypothyroidism were diagnosed in 47.5% ( n  = 86), 5% ( n  = 9) and 1.7% ( n  = 3) of the patients, respectively. Mean birth weight (BW) and GA were significantly lower in the hypothyroxinemia group than in the euthyroid group ( p  < 0.001). L-T4 was started in 43% ( n  = 36) of the patients with THOP. Treatment initiation rate was 44.4% ( n  = 16) in 24–27 wk, 41.6% ( n  = 15) in 28–30 wk, and 13.8% ( n  = 5) in 31–34 wk. As the GA increased, the incidence of THOP and the rate of treatment initiation decreased ( p  < 0.001). The lowest free thyroxine (FT4) cut-off value was 0.72 ng/dl in the treated group. In addition, incidences of vancomycin + amikacin, caffeine, dopamine treatments, RDS, IVH, BPD, central catheter, FFP transfusion, and ventilator support were higher in the treated group ( P  < 0.05). Conclusion This study revealed that prevalence of THOP increased as the GA and BW decreased. As the GA decreased, THOP patients requiring L-T4 treatment increased. Additionally, association with comorbid diseases increased the requirement of treatment.

Background The global prevalence of type 1 diabetes mellitus (T1DM) is steadily increasing, particularly among children and young adults. Health-related myths can significantly influence patients’ dietary behaviors and treatment adherence, thereby compromising disease management and metabolic outcomes. Methods This cross-sectional study included 190 adolescents and young adults with T1DM attending a pediatric endocrinology outpatient clinic. Data on demographics, BMI, HbA1c values, and nutrition-related myths were collected through face-to-face interviews. Statistical analyses, including chi-square tests and Spearman correlation coefficients, were performed using SPSS 22.0 software. Logistic regression analysis was conducted to identify independent predictors of metabolic control status ( p  < 0.05). Results Participants had a mean diabetes duration of 7.5 ± 4.63 years, with a mean HbA1c of 7.9 ± 1.44%. Approximately 27.0% of adolescents and 20.0% of young adults were overweight or obese. Only 29.0% of individuals had good metabolic control (HbA1c <%7), while 71.0% had HbA1c ≥ 7. An increase in diabetes duration was found to elevate the risk of poor metabolic control by 1.107 times, whereas a higher total number of answers was associated with a 0.696-fold decrease in this risk ( p  < 0.05). Conclusion Improved knowledge about nutrition myths is associated with better metabolic control among adolescents and young adults with T1DM. Structured education programs tailored to this population may contribute to improved glycemic outcomes. A multidisciplinary team approach is essential to effectively deliver educational content and reinforce evidence-based dietary practices.

The objective of this study was to examine the nutritional habits and exercise patterns in children with type 1 diabetes (T1DM) at the familial level and investigate their relationship with glycemic control. This cross-sectional study included 6-18-year-old patients with T1DM and non-diabetic children from the dietitian outpatient clinic. The Family Nutrition and Physical Activity screening tool (FNPA) was administered to all parents to determine their nutrition and exercise habits. The participants were divided into three subgroups based on their body mass index percentile (underweight, normal weight, overweight/obese), and children with T1DM were further divided into two subgroups based on their Hemoglobin A1c (HbA1c) value as good and poor glycemic control. FNPA scores were compared between the groups/subgroups using t-test/one-way Analysis of Variance (ANOVA). Additionally, a multiple linear regression model was developed to identify the determinants of the FNPA score. A total of 240 children (129 with T1DM) were included in the study. Children with T1DM had significantly higher FNPA scores than non-diabetic children (p=0.013). When the analysis was restricted to subgroups within the same weight status, this difference was significant only between the overweight/obese subgroups (p=0.032). The mean FNPA score of children with T1DM who had good glycemic control was significantly higher than those with poor glycemic control (p<0.001). This study is the first to evaluate the FNPA scale in children with T1DM and demonstrates the relationship between family nutrition and physical activity habits with glycemic control. These results highlight the significance of promoting proper nutrition and physical activity at the family level to achieve treatment goals.

Although the sensitivity and specificity of bilateral inferior petrosal sinus sampling (BIPSS) were shown to be quite high in adult patients, pediatric studies are limited in number and have conflicting results, since BIPSS is much less commonly performed in children. The aim of this study was to assess the role of BIPSS in the detection and accuracy of lateralization of pituitary adenomas in pediatric patients with Cushing disease (CD) and its possible advantage over other diagnostic methods. This was a multicenter, nationwide, web-based study. The diagnostic value of BIPSS in 16 patients, aged between four and 16.5 years with a confirmed diagnosis of CD, was evaluated retrospectively. The sensitivity and specificity of BIPSS and magnetic resonance imaging (MRI) were calculated, and compared statistically. Standard tests, except for morning cortisol level, were effective in proving the presence of Cushing syndrome. While MRI findings were consistent with microadenoma in eight cases (50%), CD presence and lateralization was successfully predicted in 14 of 16 patients using BIPSS. BIPSS compared with MRI examination was significantly more accurate, both in pre-stimulation and post-stimulation results (p=0.047 and p=0.041, respectively). BIPSS showed a significantly higher sensitivity (92.8%) than MRI in detecting the pituitary source of adrenocorticotropic hormone secretion. These results suggest that BIPSS is superior to MRI for diagnostic work-up to confirm the diagnosis of CD. Moreover, in line with previous studies, BIPSS was shown to provide better information about adenoma location, which is vital for possible surgical intervention.