Staging and evaluation of neoadjuvant chemotherapy response with ¹⁸F-FDG PET/CT in NUT-midline carcinoma in a child: a case report and review of the literature.

NUT midline carcinoma (NMC) is a newly defined and lethal cancer with aggressive course. It mostly affects children and young adults. Diagnosis is confirmed with the evidence of BRD4-NUT mutation on the chromosome 15q14 by fluorescence in situ hybridization.

Extended endoscopic transsphenoidal approach infrachiasmatic corridor.

An extended endoscopic transsphenoidal approach is required for skull base lesions extending to the suprasellar area. Inferior approach using the infrachiasmatic corridor allows access to the lesions through the tumor growth that is favorable for the extended transsphenoidal approaches. Infrachiasmatic corridor is a safer route for the inferior approaches that is made up by basal arachnoid membrane and Liliequist's membrane with its leaves (diencephalic and mesencephalic leaf).

Psychomotor retardation caused by a defective thyroid hormone transporter: report of two families with different MCT8 mutations.

Background/aims: Monocarboxylate transporter 8 (MCT8) is essential for thyroid hormone (TH) transport in the brain. Mutations in MCT8 are associated with the Allan-Herndon-Dudley syndrome (AHDS), characterized by severe psychomotor retardation and altered serum thyroid parameters. Here we report two novel mutations in MCT8 and discuss the clinical findings.

Endocrine cancer syndromes: an update.

Endocrine neoplasms comprise a variety of benign and malign tumors that arise from the endocrine glands or neuroendocrine tissues. Although most endocrine neoplasms are sporadic, others are secondary to mutations of many known tumor-predisposing genes. Endocrine cancer syndromes, including Multiple Endocrine Neoplasia type 1 (MEN1), Multiple Endocrine Neoplasia type 2 (MEN2A and MEN2B), Multiple Endocrine Neoplasia type 4 (MEN4) syndromes, and inherited syndromes with different endocrine neoplasms (von Hippel-Lindau disease, Carney complex, Neurofibromatosis type 1, others) are heterogeneous group of cancer susceptibility syndromes that affect one or more of the endocrine glands or neuroendocrine tissues.

A case of central precocious puberty due to concomitant hypothalamic hamartoma and juvenile pilocytic astrocytoma.

Central precocious puberty (CPP) is caused by premature activation of the hypothalamo-pituitary-gonadal axis. More than 50% of boys with CPP have an identifiable etiology. Hypothalamic hamartoma (HH), hydrocephalus, tumors, infections, congenital defects, ischemia, radiation, or injury of the brain are the most common causes of secondary CPP.

The effect of L-thyroxine treatment on left ventricular functions in children with subclinical hypothyroidism.

Objective: The aim of this study was to search for evidence suggesting treatment for childhood subclinical hypothyroidism (SH) by evaluating left ventricular (LV) functions of children with SH by using M-mode and tissue Doppler echocardiography (TDE).

Methods: Children with SH and euthyroid healthy children (control group) were enrolled in the study. At baseline and 6 months after euthyroidism was achieved, M-mode and TDE were performed and LV functions were evaluated.

Gr-Pt hybrid NP modified GCPE as label and indicator free electrochemical genosensor platform.

Glassy carbon paste electrode (GCPE) was modified with graphene platinum hybrid nanoparticle (Gr-Pt hybrid NP) and used as a transducer for label and indicator free electrochemical genosensor. 22 mer oligonucleotides representing Escherichia coli bacteria were used as a model case. As far as it is known, this study is the first study where Gr-Pt hybrid NP was incorporated into GCPE and used for genosensor transducer.

A novel missense mutation in HSD17B3 gene in a 46, XY adolescent presenting with primary amenorrhea and virilization at puberty.

Deficiency of 17β-hydroxysteroid dehydrogenase type3 (17β-HSD3) isoenzyme which catalyzes the synthesis of testosterone from Δ4-androstenedione, is the cause of 46, XY disorders of sex development (DSD). 17β-HSD3 deficiency is a rare autosomal recessive disorder, which is caused by mutations in the HSD17B gene found on chromosome 9q22. Up to now, almost 33 mutations in the HSD17B3 gene have been reported.

Role for streptococcal collagen-like protein 1 in M1T1 group A Streptococcus resistance to neutrophil extracellular traps.

Streptococcal collagen-like protein 1 (Scl-1) is one of the most highly expressed proteins in the invasive M1T1 serotype group A Streptococcus (GAS), a globally disseminated clone associated with higher risk of severe invasive infections. Previous studies using recombinant Scl-1 protein suggested a role in cell attachment and binding and inhibition of serum proteins. Here, we studied the contribution of Scl-1 to the virulence of the M1T1 clone in the physiological context of the live bacterium by generating an isogenic strain lacking the scl-1 gene.

Acceleration of puberty during growth hormone therapy in a child with septo-optic dysplasia.

Septo-optic dysplasia (SOD) is a heterogeneous disorder of the central nervous system characterized by various endocrinological and neurological findings. It is a complex disease caused by a combination of genetic and environmental factors. Herein, we report the case of a 5.

Isolated hyperthyrotropinemia in childhood obesity and its relation with metabolic parameters.

Purpose: The aim of the presented study was to evaluate the prevalence of isolated hyperthyrotropinemia (IH) in obese children and the relation between anthropometric and metabolic parameters.

Methods: Hospital records of the children, who presented to the Pediatric Endocrinology outpatient clinic of our institution with obesity, and age and gender-matched healthy children, who had undergone thyroid function test for any reason were retrospectively reviewed.

Results: The prevalence of IH was significantly higher in the obese group than in the controls (9.

Fasting and postprandial levels of a novel anorexigenic peptide nesfatin in childhood obesity.

Background: Nesfatin-1, a recently discovered anorexigenic peptide, is expressed in several tissues, including pancreatic islet cells and central nervous system. However, its pathophysiological role in the development of obesity and insulin resistance remains unknown.

Aim: To investigate the possible involvement of nesfatin-1 in the pathogenesis of childhood obesity, we examined the relationship between fasting and postprandial nesfatin-1 concentrations and metabolic/antropometric parameters in obese children.

The relation of leptin and soluble leptin receptor levels with metabolic and clinical parameters in obese and healthy children.

We investigated the relation of serum leptin, soluble leptin receptor (sLR) and free leptin index (FLI) with metabolic and anthropometric parameters in obese and healthy children. Height, weight, waist circumference (WC), fasting serum glucose, insulin, lipid profile, leptin and sLR levels of 35 obese children and 36 healthy children were measured and FLI was calculated as the ratio of leptin to sLR. In obese children, serum leptin and FLI were found significantly higher, while sLR level was significantly lower than the healthy children.

Anterior visual pathways in amblyopia: quantitative assessment with diffusion tensor imaging.

Purpose: To detect the abnormalities of the anterior visual pathways in children with amblyopia with diffusion tensor imaging.

Methods: Ten children with unilateral amblyopia, 5 children with bilateral amblyopia, and 10 control children were treated using diffusion tensor imaging scanning in this institutional practice. Fractional anisotropy and mean diffusivity values were analyzed using diffusion tensor imaging in the prechiasmatic and chiasmatic regions.

Assessment of sleep problems in children with familial Mediterranean fever.

Aims: This study aimed to investigate sleep patterns, sleep disturbances and possible factors that are associated with sleep disturbances among children with familial Mediterranean fever (FMF).

Patients And Methods: Fifty-one patients with FMF and 84 age- and sex-matched healthy controls were enrolled in the study. The patients who had an attack during the last 2 weeks were not included.

Are cardiac magnetic resonance imaging and radionuclide ventriculography good options against echocardiography for evaluation of anthracycline induced chronic cardiotoxicity in childhood cancer survivors?

Anthracyclines are widely used for the treatment of solid tumors in pediatric oncology. However, their uses may be limited by progressive chronic cardiotoxicity related to the cumulative dosage. The aims of this study are to compare diagnostic techniques and prepare an algorithm for diagnosis of anthracycline induced chronic cardiotoxicity.

A novel activating ABCC8 mutation underlying neonatal diabetes mellitus in an infant presenting with cerebral sinovenous thrombosis.

Neonatal diabetes mellitus is a rare clinical condition, which develops most commonly secondary to mutations in KCNJ11 and ABCC8 genes encoding ATP-sensitive K+ channels. Patients are typically diagnosed with hyperglycemia-related symptoms in the first 6 months of life and rarely with ketoacidosis. In this article, we report an infant who presented with focal clonic convulsion and thereafter was diagnosed with neonatal diabetes mellitus and thrombi in cerebral venous sinus.

Decreased vitamin D levels in children with familial Mediterranean fever.

Objectives: To determine the frequency of vitamin D deficiency in children with familial Mediterranean fever (FMF) and to investigate the factors associated with low vitamin D status.

Design And Methods: Forty-four patients with FMF and 39 age- and sex-matched healthy controls were enrolled in this study. Demographic data, FMF symptoms, disease duration, time to delay for diagnosis, duration of follow-up, disease severity score, MEFV gene mutation, cumulative colchicine dose, compliance to treatment and serum C-reactive protein levels were recorded for each patient.

46,XX male disorder of sexual development:a case report.

The main factor influencing sex determination of an embryo is the sex-determining region Y (SRY), a master regulatory gene located on the Y chromosome. The presence of SRY causes the bipotential gonad to differentiate into a testis. However, some individuals carry a Y chromosome but are phenotypically female (46,XY females) or have a female karyotype but are phenotypically male (46,XX males).

Comparison of the diagnostic performances of diffusion parameters in diffusion weighted imaging and diffusion tensor imaging of breast lesions.

Purpose: To evaluate the diagnostic efficiency of the diffusion parameters measured by conventional diffusion-weighted imaging (DWI) and diffusion tensor imaging (DTI) for discrimination of malignant breast lesions from benign lesions and the normal breast.

Materials And Methods: The study included 52 women with 55 breast lesions (30 malignant, 25 benign). DTI and DWI were performed complementary to dynamic contrast MRI at 3T.

Low omentin-1 levels are related with clinical and metabolic parameters in obese children.

This is the first clinical study evaluating the relation of serum omentin 1 levels with anthropometric and metabolic parameters in obese children with a particular interest to identify the possible role of omentin 1 in childhood obesity and related metabolic disturbances.The study included obese children with a body mass index (BMI)>95th percentile and healthy children with a BMI<85th percentile. The healthy and obese subjects had similar age and gender distribution.

Golden bullet-denosumab: early rapid response of metastatic giant cell tumor of the bone.

Giant cell tumor of the bone (GCTB) is usually a benign, locally aggressive tumor with metastatic potential. Histogenesis of GCTB is unknown and a correlation has not been found between histologic and clinical course. For this reason, many authors consider its prognosis unpredictable.

Prosocial bonuses increase employee satisfaction and team performance.

In three field studies, we explore the impact of providing employees and teammates with prosocial bonuses, a novel type of bonus spent on others rather than on oneself. In Experiment 1, we show that prosocial bonuses in the form of donations to charity lead to happier and more satisfied employees at an Australian bank. In Experiments 2a and 2b, we show that prosocial bonuses in the form of expenditures on teammates lead to better performance in both sports teams in Canada and pharmaceutical sales teams in Belgium.