Clinical and Laboratory Characteristics of MODY Cases, Genetic Mutation Spectrum and Phenotype-genotype Relationship.

Objective: Maturity onset diabetes of the young (MODY) occurs due to mutations in genes involved in pancreatic beta cell function and insulin secretion, has heterogeneous clinical and laboratory features, and account for 1-5% of all diabetes cases. The prevalence and distribution of MODY subtypes vary between countries. The aim of this study was to evaluate the clinical and laboratory characteristics, mutation distribution, and phenotype-genotype relationship in a large case series of pediatric Turkish patients genetically diagnosed with MODY.

An exceptional cause of acute respiratory failure in an infant: negative pressure pulmonary edema.

Acute respiratory failure is an important reason for pediatric intensive care admissions. Lung parenchymal disease, airway obstruction, or neuromuscular dysfunction are the most common causes. Negative pressure pulmonary edema, characterized by pulmonary edema associated with upper airway obstruction, can rarely cause sudden onset respiratory failure.

Dyskinesia due to mexiletine overdose: a rare presentation.

Background: Mexiletine, a class IB antiarrhythmic, is a structural analog of lidocaine. Our knowledge of mexiletine overdose is based on lidocaine overdose reports. Only a few cases of mexiletine overdose have been reported, including fatal overdoses.

PREDICT-crFMF score: A novel model for predicting colchicine resistance in children with familial Mediterranean fever.

Objectives: To develop a novel scoring system to predict colchicine resistance in Familial Mediterranean fever (FMF) based on the initial features of the patients.

Methods: The medical records of patients were analyzed prior to the initiation of colchicine. After generating a predictive score in the initial cohort, it was applied to an independent cohort for external validation of effectiveness and reliability.

Surfactant for a Patient with Refractory Pyopneumothorax and Acute Respiratory Distress Syndrome Due to Pneumococcal Necrotizing Pneumonia Complicated by a Bronchopleural Fistula.

Necrotizing pneumonia rarely occurs in children, but when it does it can be complicated by bronchopleural fistula, empyema, pneumothorax, sepsis, and acute respiratory distress syndrome (ARDS). Antimicrobial therapy is the cornerstone of its management; however, surgery is necessary in some cases. Ideally, surgical interventions are kept to a minimum, but this is not always possible if there is a mass effect from air and fluid in the pleural space, pulmonary necrosis leading to massive hemoptysis, uncontrolled sepsis, or difficulties with assisted ventilation.

PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism.

Idiopathic hypogonadotropic hypogonadism (IHH) comprises a group of rare genetic disorders characterized by pubertal failure caused by gonadotropin-releasing hormone (GnRH) deficiency. Genetic factors involved in semaphorin/plexin signaling have been identified in patients with IHH. PlexinB1, a member of the plexin family receptors, serves as the receptor for semaphorin 4D (Sema4D).

A major health problem facing immigrant children: nutritional rickets.

Objectives: Nutritional rickets (NR) is still an important problem and one which increasing influxes of immigrants are further exacerbating. This study evaluated cases of mostly immigrant children followed up with diagnoses of NR in our pediatric endocrinology clinic.

Methods: Details of 20 cases diagnosed with NR between 2017 and 2020 were retrieved from file records.

Point-of-Care Ultrasound-Guided Versus Conventional Bladder Catheterization for Urine Sampling in Children Aged 0 to 24 Months.

Objectives: It can be difficult to obtain urine samples, especially in children aged 0 to 24 months who have not yet completed toilet training. Bladder catheterization is a common method for urine sampling in this age group. However, if the bladder is not adequately filled, this process fails and repeat catheterization is necessary.

Value of strain-wave sonoelastography as an imaging modality in assessment of benign acute myositis in children.

Background/aim: Although sonoelastography is applied in assessment of many organs, studies for evaluation of muscles are very few in number and are mostly limited to adults. With this prospective study, we aimed to evaluate the value of sonoelastography in assessment of influenza related benign acute myositis in children.

Materials And Methods: This study enrolled 25 patients with a clinical diagnosis of benign acute childhood myositis (BACM) and 25 age and sex-matched healthy controls.

Secukinumab may be remedy for systemic amyloidosis findings secondary to hidradenitis suppurativa.

Hidradenitis suppurativa (HS) is a chronic relapsing inflammatory disease of follicular epithelium; many comorbidities occur that disrupt the quality of life of patients. Amyloidosis is one of them. We present a case with systemic amyloidosis secondary to HS and responding positively to secukinumab therapy.

Functional assessment of variants associated with Wolfram syndrome.

Wolfram syndrome (WS) is a heterogeneous multisystem neurodegenerative disorder with two allelic variations in addition to a separate subtype known as WS type 2. The wide phenotypic spectrum of WS includes diabetes mellitus and optic atrophy which is often accompanied by diabetes insipidus, deafness, urological and neurological complications in combination or in isolation. To date, the understanding of the genotype-phenotype relationship in this complex syndrome remains poorly understood.

Antimüllerian Hormone Levels of Infants with Premature Thelarche.

Objective: Antimüllerian hormone (AMH) concentrations in mini puberty are higher than those reported for the prepubertal period. In this study we investigated AMH concentrations in infants with premature thelarche (PT). A healthy control group was used for comparison.

Subnormal Growth Velocity and Related Factors During GnRH Analog Therapy for Idiopathic Central Precocious Puberty.

Objective: Data concerning subnormal growth velocity (GV) and factors that influence this during gonadotropin-releasing hormone analog (GnRHa) therapy for idiopathic central precocious puberty (ICPP) are scarce. We investigated the incidence of subnormal GV and associated factors in patients receiving GnRHa therapy for ICPP.

Methods: In this retrospective cohort study, the records of 50 girls who had been diagnosed with ICPP and started on GnRHa treatment before the age of eight years were investigated.

Abnormal Uterine Bleeding in Adolescents.

Abnormal uterine bleeding (AUB) is the most common gynecologic complaint of adolescents admitted to hospital. Heavy menstrual bleeding (HMB) is the most frequent clinical presentation of AUB. Anovulatory cycles, owing to immature hypothalamic-pituitary-ovarian axis, is the leading etiology of HMB and there is an accompanying bleeding disorder in almost 20% of patients with HMB.

Assessment of the knowledge of diabetes mellitus among school teachers within the scope of the managing diabetes at school program.

Objective: Training teachers and education professionals on diabetes is crucial for full-time monitoring of diabetic children in schools. The objective of this study was to assess the knowledge on diabetes in a group of school teachers in Turkey.

Methods: Between November 2010 and November 2011, 1054 teachers from three regions of Ankara were given a questionnaire to assess their knowledge on diabetes.

Does pseudohypoaldosteronism mask the diagnosis of congenital adrenal hyperplasia?

Hyponatremia and hyperpotassemia occurring in the first few weeks of life primarily indicate aldosterone deficiency due to salt-losing congenital adrenal hyperplasia (SL-CAH), while mineralocorticoid deficiency and insensitivity are the main causes of hyponatremia and hyperpotassemia in older infants. Some patients who present with vomiting and poor sucking, who have hyponatremia and hyperpotassemia and are initially diagnosed as CAH, during follow-up, are found to suffer from pseudohypoaldosteronism (PHA). This situation has been reported several times before.