SIADH as a Rare Complication of Foramen Magnum Stenosis in an Infant With Achondroplasia.

Achondroplasia is the most common skeletal dysplasia and is associated with serious complications such as foramen magnum stenosis (FMS). This case report describes an infant with achondroplasia who presented with a syndrome of inappropriate antidiuretic hormone secretion (SIADH), secondary to significant FMS and myelocompression. A 2-month-old boy with prenatally diagnosed achondroplasia was referred due to disordered breathing and altered consciousness.

Neutropenia Occurs More Often Under Carbimazole than Under Methimazole Treatment in Pediatric Graves' Disease Patients.

Agranulocytosis is a rare antithyroid drug treatment (ATD) side effect seen in children suffering from Graves' disease (GD). Neutropenia is a recognized adverse event associated with ATD but has also been reported as pre-treatment neutropenia in GD. We performed a retrospective cohort study to analyze the longitudinal clinical and biochemical data of 161 pediatric patients with GD who received either methimazole (MMI) or carbimazole (CBZ) as ATD.

Whole Genome Sequence of a Novel Bacteriophage APT65 Infecting .

Background: is a prevalent pathogenic bacterium in aquaculture that causes economic loss around the world. Antimicrobials are used to control and prevent the incidence of bacterial pathogens in aquaculture. However, they lead to the emergence of antimicrobial resistance strains and the accumulation of antibiotic residues in fish tissue.

The first outbreak of citrobacteriosis caused by in reared Russian sturgeon () in Turkiye.

Russian sturgeon () is an endangered fish species and also an important resource for the sturgeon aquaculture industry in Turkiye. Recently, a fatal and persistent bacterial disease occurred in the reared sturgeon kept in a trout farm in Turkiye. The disease outbreak has been with notable external signs including petechial hemorrhages and systemic anemia.

A Rare Cause of Autistic Regression in a Boy with Down Syndrome: Hashimoto Encephalopathy.

Background: Hashimoto encephalopathy (HE) is a rare condition associated with autoimmune thyroid disease. We aimed to report the youngest patient with Down syndrome and HE with an unusual presentation.

Case Report: Six years and six months old boy with Down syndrome admitted due to loss of speech.

Impact of eating habits and nutritional status on children with autism spectrum disorder.

Objectives: Obesity is common among children with Autism Spectrum Disorder (ASD). They suffer more feeding problems than children with normal developmental milestones. Several kinds of diet are recommended for children with ASD.

Evaluation of hydration status of children with obesity-a pilot study.

Objectives: To compare the hydration status between children with obesity and normal-weighted children and to determine whether obesity is related to less water consumption.

Methods: Children aged between 7 and 18 years with obesity (Group 1, n=31) were compared with nonobese healthy volunteers (Group 2, n=30) in terms of body composition analysis, urine density and daily fluid intake.

Results: The fluid intake per body surface of Group 1 was found significantly less than Group 2 (p<0.

Identification of Three Novel and One Known Mutation in the Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis.

Objective: Bi-allelic mutations in the cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by nonautoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and neuropsychiatric disorders. Patients presenting with an incomplete phenotype of WS1 were evaluated using homozygosity mapping and subsequent whole-exome sequencing.

Methods: Four unrelated consanguineous Turkish families, including seven affected children, and their unaffected parents and siblings were evaluated.

Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets.

Context: Hypophosphatemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5, SLC9A3R1, SLC34A1, or SLC34A3.

Objective: A large kindred with 5 HR patients was recruited with dominant inheritance. The study was undertaken to investigate underlying genetic defects in HR patients.

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Purpose: Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohort of molecularly confirmed cases.

Methods: We compiled clinical, genetic and serological data from a total of 26 patients from 18 pedigrees, all with biallelic ACP5 mutations.

Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism.

Objective: Mutations in the KATP channel genes is the most common cause of congenital hyperinsulinism (CHI) of infancy. Our aim was to report the clinical and genetic characteristics, treatment modalities, and long-term prognosis of patients with CHI.

Methods: Clinical and biochemical findings, operation procedures, and results of genetic analysis were retrospectively evaluated in 22 CHI patients from two pediatric endocrine centers in Turkey.

Higher body fat and lower fat-free mass in girls with premature adrenarche.

Objective: Idiopathic premature adrenarche (PA) refers to presence of androgenic signs before the age of eight years in girls in the absence of thelarche. In children with PA, increased adrenal androgens lead to changes in body composition and transient growth acceleration. Although the association between PA and some components of the metabolic syndrome is well known, body composition has not been extensively studied in these patients.

The debate on the link between subclinical hypothyroidism and childhood migraine: is initial endocrinological evaluation necessary for children with migraine?

Subclinical hypothyroidism (SH) is characterized by mildly elevated thyroid stimulating hormone (TSH) levels with normal serum-free thyroxine (fT4). While the prevalence of SH is 2 % in pediatric population, it has been reported much higher in children with migraine headache. In this study, the presence of subclinical hypothyroidism and associated endocrinological abnormalities in children with migraine naïve to treatment was investigated.

Perinephric adipose tissue thickness in relation to blood pressure, plasma apelin and C-reactive protein levels in obese adolescents.

Background: Visceral adiposity plays an important role in the pathogenesis of obesity related hypertension. Measurement of perinephric adipose tissue (PNAT) thickness has not been studied yet. We aimed to define the relation of PNAT with hypertension, and to investigate its correlations with apelin and C-reactive protein.

Epilepsy treatment by sacrificing vitamin D.

Epilepsy is one of the most common neurologic disorders in childhood that often requires long term treatment with antiepileptic drugs. Both antiepileptic treatment and the comorbidities associated with epilepsy have a negative impact on bone health in growing children. Given the fact that vitamin D deficiency is a major public health problem worldwide, clinicians caring for children with chronic diseases should be aware of effects of the medication on the bone metabolism.

Should patients with Down syndrome be screened for testicular microlithiasis?

Background: Testicular microlithiasis (TM) is a rare condition characterized by asymptomatic calcification of seminiferous tubules and is considered as a precursor of testicular germ cell tumors. The prevalence of TM has been reported higher in patients with Down syndrome (DS) than general population. Our aim was to determine the prevalence of TM in our patients with DS.

Remission with cabergoline in adolescent boys with Cushing's disease.

Cabergoline is a long-acting dopamine receptor agonist used for treatment of patients with uncured Cushing's disease (CD) and, as a first-line treatment, was used in only limited numbers of patients. This report presents two adolescent boys with CD who were treated with cabergoline. Two adolescent boys with clinical and laboratory findings of CD are presented.

Profile of hypothyroidism in Down's syndrome.

Objective: Although the association between Down's syndrome (DS) and thyroid dysfunction is well recognized, the cause of this condition is not known.

Methods: Hospital records of patients with DS and hypothyroidism referred to our clinic were retrospectively reviewed. Initial thyroid hormone and thyrotropin (TSH) levels, age at admission, initial anthropometric measurements, age at the beginning of therapy, initial L-thyroxine (L-T4) doses, time to normalization of the thyroid function tests, and L-T4 dose at last visit were recorded.

Hoffmann's syndrome and pituitary hyperplasia in an adolescent secondary to Hashimoto thyroiditis.

Background: Diffuse muscle hypertrophy is a rare complication of acquired hypothyroidism. When accompanied by stiffness, weakness, and painful muscle cramps, the condition is known as Hoffmann's syndrome (HS). HS is usually seen in young adults due to long-standing untreated primary hypothyroidism.

Clinical features and management of diabetic ketoacidosis in different age groups of children: children less than 5 years of age are at higher risk of metabolic decompensation.

Objective: To characterize the clinical features and biochemical status at presentation of diabetic ketoacidosis (DKA) in different age groups of children, and to analyze the outcomes of a certain treatment protocol.

Methods: We reviewed records of patients with DKA who were admitted to our hospital between January 2007 and December 2010. Patients were divided into three subgroups according to age, and the results were compared between these groups.

Developmental defects of the thyroid gland: relationship with advanced maternal age.

Objective: Developmental defects of the thyroid gland are the most frequent causes of permanent congenital hypothyroidism. This study aimed to investigate the epidemiological features of patients with thyroid dysgenesis (TD).

Methods: Medical records of 234 patients with TD followed between the years 2008 and 2010 were evaluated retrospectively.

Delirium in diabetic ketoacidosis: a case report.

A 15-year-old female patient with known type 1 diabetes mellitus was referred because of abdominal pain. On admission, she was alert but dehydrated with marked Kussmaul breathing. Blood glucose was 414 mg/dL (23 mmol/L).