A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus.

Congenital hyperinsulinism (CHI) is the most common cause of neonatal persistent hypoglycemia caused by mutations in nine known genes. Early diagnosis and treatment are important to prevent brain injury. The clinical presentation and response to pharmacological therapy may vary depending on the underlying pathology.

Recent Declines in Infant and Neonatal Mortality in Turkey from 2007 to 2012: Impact of Improvements in Health Policies.

Background: Infant mortality rate (IMR) and neonatal mortality rate (NMR) are accepted as good indicators to measure the health status of a nation. This report describes recent declines in IMR and NMR in Turkey.

Methods: Data on infants who died before 12 months of life were obtained from the Infant Mortality Monitoring System of Ministry of Health of Turkey between 2007 and 2012.

Medical complications experienced by first-time ischemic stroke patients during inpatient, tertiary level stroke rehabilitation.

[Purpose] The aim of this study was to assess the medical complications in first-time ischemic stroke patients, to identify the factors related to occurrence of complications. [Subjects and Methods] First-time ischemic stroke patients (n=81) admitted to a tertiary level inpatient rehabilitation center during a 5 year period were included in the study. The attending physiatrist noted the presence of specific medical complications and complications that required transfer to the acute care facility from patient records.

Proven Non-β-Lactam Antibiotic Allergy in Children.

Background: Parallel to the increasing use of non-β-lactam (NBL) antibiotics, allergic reactions to this drug group seem to increase. Data about NBL antibiotic hypersensitivity in children are limited. The aim of this study is to evaluate characteristic reactions to NBL antibiotics in children.

Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.

Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without a specific diagnosis.

Evaluation of Iodine Deficiency in Children with Attention Deficit/Hyperactivity Disorder.

Objective: To investigate the incidence of iodine deficiency (ID) and its effects on mental function in children referred to the Dr. Sami Ulus Maternity and Children's Training and Research Hospital with a prospective diagnosis of attention deficit/hyperactivity disorder (ADHD).

Methods: The study was conducted on 89 children referred in the period from September 2009 to June 2010 with a diagnosis of ADHD.

The efficacy and safety of naproxen in acute rheumatic fever: The comparative results of 11-year experience with acetylsalicylic acid and naproxen.

The objective was to compare the efficacy and safety of naproxen (NXN) to acetylsalicylic acid (ASA) in the treatment of acute rheumatic fever (ARF). The data of 338 children were retrospectively analyzed. The patients were grouped according to joint and valve involvement and also drug chosen [methyl prednisolone (mPSL), ASA or NXN].

Accidental cisplatin overdose in a child: Successful management with repetitive plasmapheresis and use of chemoprotective agents.

Cisplatin is one of the effective chemotherapeutic agents widely used for many tumor types in children. The most serious complications of cisplatin overdose are nephrotoxicity and ototoxicity. It may lead to life-threatening complications and even death.

Pediatric bladder/prostate rhabdomyosarcoma: Eight cases from a single center.

In this study, clinical characteristics, treatment modalities and outcome of patients diagnosed with bladder/prostate rhabdomyosarcoma (BP RMS) were evaluated retrospectively. Files of 8 children diagnosed with BP RMS and treated between 2004-2014 were reviewed for clinical characteristics, treatment modalities and outcome. Seven males and one female were diagnosed with BP RMS between 2004-2014.

Brain death and organ donation of children.

We aimed to define the demographic characteristics, clinical features and outcome of patients with brain death, and to emphasize the importance of organ donation from children. Data for the period from September 2009 to October 2012 were collected retrospectively. Twenty children who were diagnosed as brain death were included.

Viral etiology in infants hospitalized for acute bronchiolitis.

Acute bronchiolitis is predominantly a viral disease. Respiratory syncytial virus is the most common agent, but other newly identified viruses have also been considered as causes. The aim of the present study is to determine the respiratory viruses causing acute bronchiolitis in hospitalized infants.

Nonsteroidal anti-inflammatory drug hypersensitivity among children.

Background: Nonsteroidal anti-inflammatory drugs (NSAID) are the second-most frequent drugs that cause hypersensitivity reactions among children. Studies related to NSAIDs hypersensitivity in children are limited. In this study, we aimed to evaluate children admitted with suspicion of NSAIDs reaction.

Characteristics and Prognosis of Allergic Proctocolitis in Infants.

Objectives: The dietary protein proctocolitis, also known as allergic proctocolitis (AP), is characterized by the presence of mucoid, frothy, and bloody stools in an otherwise healthy infant. The aim of this study was to describe a group of children with AP, diagnosed according to the criterion-standard method, food challenge to provide clinicians with more information on typical presentation, and an overview on nutritional management strategies and prognosis.

Methods: We collected data on infants with AP in our allergy and gastroenterology outpatient clinics.

Antenatal hydronephrosis: a single center's experience and follow-up strategies.

This study was performed to evaluate the role of postnatal ultrasonography (US) in predicting the final diagnosis and need of surgery of antenatal hydronephrosis patients. One hundred and twenty six renal units (RUs) of 76 patients with diagnosis of antenatal hydronephrosis (ANH) were studied. An early postnatal US no later than the first week of life was requested.

Negative predictive value of drug provocation tests in children.

Background: The negative predictive value of the drug provocation test is important for both the patient and the physician. However, in children, this predictive value is unresolved.

Methods: The study included patients who had drug provocation test with a suspected drug and was diagnosed as 'not allergic to the drug'.

Risk factors of severe atopic dermatitis in childhood: single-center experience.

The aim of this study was to evaluate the risk factors of disease severity to facilitate better management of children with severe atopic dermatitis (AD). All the patients were diagnosed using Hanifin-Rajka criteria. After medical and family histories were obtained and a detailed physical examination was performed, disease severity was determined with the objective SCORing Atopic Dermatitis (SCORAD) index.

Alpha-fetoprotein-producing hepatoid gastric adenocarcinoma in a child presenting with spontaneous gastric perforation.

Gastric adenocarcinoma is a rare entity in the pediatric population. Gastric hepatoid adenocarcinoma with elevated serum alpha-fetoprotein (AFP) is seen extremely rarely in children. A 12-year-old boy was admitted to the hospital with complaint of abdominal pain.

Allergic diseases in children with primary immunodeficiencies.

The aim of this study was to evaluate and compare the frequency of atopy and allergic disease in all groups of primary immunodeficiency (PID) patients. The study was done on 318 patients with PID between the ages of 6 months and 18 years. The patients and their parents were questioned regarding their histories of asthma and allergic disease.

Use of plerixafor for peripheral blood stem cell mobilization failure in children.

Background: Peripheral blood stem cell mobilization is usually performed following chemotherapy plus G-CSF in children. This standard approach may not be successful in some heavily pretreated patients undergoing mobilization. Plerixafor (AMD3100) has been used in adults as a second line mobilizing agent.

The management of bilateral Wilms tumor.

Wilms tumor (WT) is the most common malignant renal tumor in childhood. Approximately 5-7% of WT patients present with bilateral disease, either synchronously or metachronously. Bilateral WT usually occurs in younger children and more often in girls.

Wilms tumor with intravascular tumor thrombus.

Wilms tumor (WT) is one of the most common solid tumors in children. It is the second most common extracranial solid tumor after neuroblastoma. WT has a strong tendency to invade blood vessels in the form of tumor thrombus, into the renal veins, and inferior vena cava and even into the right atrium.

Reactive thrombocytosis in children.

The aim of this study was to evaluate the causes of thrombocytosis, which was defined as a platelet count greater than 500 x 10(9)/L, and to compare the groups with mild and severe thrombocytosis. A total of 484 patients were evaluated for the etiology of thrombocytosis. Patients with a platelet count between 500-800 x 10(9)/L were considered to have mild thrombocytosis, while those with a count of ≥800 x 10(9)/L were considered as having severe thrombocytosis.

Congenital thrombotic thrombocytopenic purpura with novel mutations in three unrelated Turkish children.

Congenital thrombotic thrombocytopenic purpura (TTP) is an inherited disease caused by mutations in the ADAMTS 13 gene and has been reported to have diverse ages of presentation, ranging from the newborn period to adulthood. Herein, we present three cases of congenital TTP who were symptomatic during childhood (neonatal period, 7 and 10 years) and were each initially given different diagnoses. Congenital TTP was later diagnosed by molecular analysis and responsiveness to fresh frozen plasma.