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View article: A Rare Complication in a Patient with Acute Promyelocytic Leukemia; ATRA and Posaconazole Associated Hypercalcemia
A Rare Complication in a Patient with Acute Promyelocytic Leukemia; ATRA and Posaconazole Associated Hypercalcemia Open
All-trans retinoic acid (ATRA), a derivative of vitamin A, has dramatically altered the treatment landscape for acute promyelocytic leukemia (APL). APL is characterized by the abnormal maturation of myeloid cells, which become arrested at …
View article: Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus
Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus Open
The frequencies of the MODY subtypes differed from previous reports. Although GCK-MODY was the most frequent mutation in Turkish children, similar to previous studies, the second most prevalent MODY subtype was HNF1B-MODY. This study also …
View article: Evaluation of variants in maturity onset of diabetes young related genes in Balıkesir region
Evaluation of variants in maturity onset of diabetes young related genes in Balıkesir region Open
Aims: Maturity-onset diabetes of the young (MODY) is an early-onset, monogenic diabetes with an autosomal dominant inheritance pattern. Single gene mutations that cause dysfunction in pancreatic beta cells are responsible for MODY etiology…
View article: Evaluation of Clinical and Laboratory Findings in the Differential Diagnosis of Central Precocious Puberty and Premature Thelarche
Evaluation of Clinical and Laboratory Findings in the Differential Diagnosis of Central Precocious Puberty and Premature Thelarche Open
Aim: In this study, it was aimed to examine the clinical and laboratory findings that can be used to predict central precocious puberty (CPP) in cases whose breast development started before the age of 8. Materials and Methods: The chronol…
View article: Early Puberty Paradox: An Investigation of Anxiety Levels of Mothers and Children, Children's Quality of Life and, Psychiatric Diagnoses
Early Puberty Paradox: An Investigation of Anxiety Levels of Mothers and Children, Children's Quality of Life and, Psychiatric Diagnoses Open
Purpose Early puberty signs lead to an increase in anxiety levels of parents and children. The aim of this study was to investigate the quality of life and anxiety levels of girls and their mothers who were admitted to a pediatric endocrin…
View article: Nörofibromatozis Tip1’li Olgularda NF1 Geni Varyant Spektrumu: Tek Merkez Deneyimi
Nörofibromatozis Tip1’li Olgularda NF1 Geni Varyant Spektrumu: Tek Merkez Deneyimi Open
Giriş ve Amaç: Nörofibromatozis tip 1 başlıca cafe au lait lekeleri, Lisch nodülleri ve nörofibromlarla karakterize otozomal dominant kalıtımlı bir rasopatidir. Bu çalışmada amacımız, NF1 ön tanısıyla başvuran hastaların genotipik verileri…
View article: The Effect of Levetiracetam Therapy on Lipid Profile in Epileptic Children
The Effect of Levetiracetam Therapy on Lipid Profile in Epileptic Children Open
ÖzObjective: The aim of this study was to evaluate the effect of levetiracetam (LEV) therapy on lipid metabolism in euthyroid nonobese epileptic children. Methods:In this case-control study, we recruited 37 epileptic children receiving LEV…
View article: Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year Open
Congenital generalized lipodystrophy (CGL) is a rare, autosomal recessive disorder characterized by an almost complete absence of body fat. In CGL, patients may have hyperphagia due to leptin deficiency. Recombinant human leptin (metrelept…
View article: Investigation of the effect of comorbid psychopathologies on glycemic control in children and adolescents with type 1 diabetes mellitus (eng)
Investigation of the effect of comorbid psychopathologies on glycemic control in children and adolescents with type 1 diabetes mellitus (eng) Open
Objective:The presence of comorbid psychiatric conditions in chronic diseases makes the management of the disease difficult.Our study, we aimed to examine the relationship between psychiatric comorbid conditions and glycemic control in chi…
View article: Clinical Features of Ectopic Thyroid Gland in Children: Single Center Experience
Clinical Features of Ectopic Thyroid Gland in Children: Single Center Experience Open
BACKGROUND/AIMS: Ectopic thyroid gland is the most common cause of permanent congenital hypothyroidism.Thus, this study aimed to examine the clinical and laboratory findings of patients with ectopic thyroid glands. MATERIALS and METHODS:Ag…
View article: A novel diagnostic tool in determining insulin resistance in obese children: Triglyceride / HDL ratio
A novel diagnostic tool in determining insulin resistance in obese children: Triglyceride / HDL ratio Open
Background/Aim: It is known that the frequency of obesity and insulin resistance is increased in children. Diagnostic laboratory criteria of insulin resistance are unclear in children despite the widespread use of the Homeostasis model ass…
View article: The Assessment of the Quality of Life in Children with Chronic Liver Disease
The Assessment of the Quality of Life in Children with Chronic Liver Disease Open
Both children with chronic liver diseases and their parents have a perceived lower QoL than healthy peers. The effect of chronic liver disease on psychosocial health is more pronounced in children older than 10 years. The quality of life i…
View article: Pseudo-Hyperthyroidism: Biotin Interference in a Case with Renal Failure
Pseudo-Hyperthyroidism: Biotin Interference in a Case with Renal Failure Open
Immunoassay measurements which use biotin should be done 2-7days after the last dose of biotin in patients under biotin treatment, but this time may need be much longer in renal failure patients. During this period or if the biotin therapy…
View article: Clinical Characteristics of 46,XX Males with Congenital Adrenal Hyperplasia
Clinical Characteristics of 46,XX Males with Congenital Adrenal Hyperplasia Open
It was seen that most (65.9%) of the 46,XX CAH cases raised male were diagnosed after two years of age. In these cases, hysterectomy and bilateral salpingoopherectomy, genital corrective surgeries and testicular prosthesis operations were …
View article: A Retrospective Analysis of Children and Adolescents With Diabetic Ketoacidosis in the Intensive Care Unıt: Is It Significant that the Blood Ketone Level Becomes Negative in Diabetic Ketoacidosis?
A Retrospective Analysis of Children and Adolescents With Diabetic Ketoacidosis in the Intensive Care Unıt: Is It Significant that the Blood Ketone Level Becomes Negative in Diabetic Ketoacidosis? Open
As a result, DKA is an acute and serious complication of diabetes, whose results are promising when managed only with minimal individual changes according to guidelines. Bicarbonate administration is not needed except in patients with very…
View article: Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis
Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis Open
Our study expands the mutation spectrum of WSF1 mutations with three novel mutations. Homozygosity mapping may provide enrichment for molecular genetic analysis and early diagnosis of WS1 patients with incomplete phenotype, particul…
View article: Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To <i>PTF1A</i> Enhancer Mutations
Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To <i>PTF1A</i> Enhancer Mutations Open
Context Biallelic mutations in the PTF1A enhancer are the commonest cause of isolated pancreatic agenesis. These patients do not have severe neurological features associated with loss-of-function PTF1A mutations. Their clinical phenotype a…
View article: Frequency of Celiac Disease and Spontaneous Normalization Rate of Celiac Serology in Children and Adolescent Patients with Type 1 Diabetes
Frequency of Celiac Disease and Spontaneous Normalization Rate of Celiac Serology in Children and Adolescent Patients with Type 1 Diabetes Open
In our cohort, the frequency of positive serology for CD was 15.4%, while the rate of BPCD was 6.9%. The majority (97.8%) of cases were diagnosed within the first five years of T1DM. In 23.3% of cases, positive anti-TTG-IgA spontaneously r…
View article: Tip 1 Diyabetli Hastalarda Otoimmün Tiroid Hastaliği Sıklığı
Tip 1 Diyabetli Hastalarda Otoimmün Tiroid Hastaliği Sıklığı Open
GİRİŞ ve AMAÇ: Bu çalışmada, kliniğimizde tip 1 diyabetes mellitus (T1DM) tanısıyla izlenen çocuk ve ergen hastalarda otoimmün tiroid hastalığı (OİTH) sıklığının belirlenmesi ve diğer parametrelerle olan ilişkisinin değerlendirilmesi amaçl…
View article: Bir Diyabet Kampı: Öncesi ve Sonrası?
Bir Diyabet Kampı: Öncesi ve Sonrası? Open
Giriş: Çalışmamızın amacı, pediatrik endokrinoloji kliniğinde takip edilen Tip 1 diabetes mellitus (DM) tanılı çocuk ve ergenlerde, diyabet kampının; HbA1c, vücut kitle indeksi (VKİ) ölçümlerine, anksiyete ve depresyon puanlarına ve yaşam …
View article: Evaluation of the Final Adult Height and Its Determinants in Patients with Growth Hormone Deficiency: A Single-centre Experience from the South-Eastern Region of Turkey
Evaluation of the Final Adult Height and Its Determinants in Patients with Growth Hormone Deficiency: A Single-centre Experience from the South-Eastern Region of Turkey Open
The majority of our patients achieved a final height compatible with their genetic potential as well as population standards when treated with rhGH even having started at a relatively late age. First year delta height-SDS was a predictive …
View article: Validity of Six Month L-Thyroxine Dose for Differentiation of Transient or Permanent Congenital Hypothyroidism
Validity of Six Month L-Thyroxine Dose for Differentiation of Transient or Permanent Congenital Hypothyroidism Open
Results suggest that LT4 requirement at six months of therapy may be a good marker for predicting transient TSH elevation in patients with eutopic thyroid gland, thus facilitating the decision to halt LT4 therapy.
View article: Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the <i>GLI2</i> Gene
Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the <i>GLI2</i> Gene Open
A novel heterozygous IVS11-2A>C(c.1957-2A>C) mutation in the GLI2 gene is reported. There was an extremely distinct phenotypical expression in two siblings and their father. The index case was a boy who developed cholestasis and hyp…
View article: Obez Çocuk ve Ergenlerde D Vitamini ve Tiroid Fonksiyonlarının Yağlı Karaciğer Hastalığı ile İlişkisinin Değerlendirilmesi
Obez Çocuk ve Ergenlerde D Vitamini ve Tiroid Fonksiyonlarının Yağlı Karaciğer Hastalığı ile İlişkisinin Değerlendirilmesi Open
GİRİŞ ve AMAÇ: Çocuklarda ve ergenlerde Yağlı Karaciğer Hastalığı (YKH) prevelansı giderek artmaktadır. İlişkili risk faktörlerini tespit etmek, YKH’nın erken tanı ve tedavisinde önemlidir. Obez çocuk ve ergenlerde D vitamini ve tiroid fon…
View article: Evaluation of the Hypothalamic-Pituitary-Adrenal Axis in a Paediatric Intensive Care Unit
Evaluation of the Hypothalamic-Pituitary-Adrenal Axis in a Paediatric Intensive Care Unit Open
High basal or stimulated cortisol levels are indicative of disease severity in the acute phase of stress. Patients with very high cortisol levels should be particularly carefully monitored because of the high mortality risk.
View article: Bilateral painless testicular mass, acute uveitis and annular cutaneous lesions: an unusual presentation of sarcoidosis and literature review
Bilateral painless testicular mass, acute uveitis and annular cutaneous lesions: an unusual presentation of sarcoidosis and literature review Open
Ahead of Print article withdrawn by publisher.
View article: Horner Syndrome Secondary to Thyroid Surgery
Horner Syndrome Secondary to Thyroid Surgery Open
Horner syndrome (HS), caused by an interruption in the oculosympathetic pathway, is characterised by myosis, ipsilateral blepharoptosis, enophthalmos, facial anhydrosis, and vascular dilation of the lateral part of the face. HS is a rare c…
View article: Vitamin D Levels in Children Admitted to the Endocrine Outpatient Clinic
Vitamin D Levels in Children Admitted to the Endocrine Outpatient Clinic Open
Giriş: D vitamini, kalsiyum ve fosfor metabolizmasını düzenler; eksikliğinde çocukluk çağında riketse yol açar. Ayrıca D vitamininin otoimmün hastalıklar, enflamatuvar barsak hastalığı, romatoid artrit, multipl skleroz, diyabet, birçok kan…
View article: A novel mutation in a case of pseudohypoparathyroidism type Ia
A novel mutation in a case of pseudohypoparathyroidism type Ia Open
Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AH…
View article: Gonadoblastoma and Papillary Tubal Hyperplasia in Ovotesticular Disorder of Sexual Development
Gonadoblastoma and Papillary Tubal Hyperplasia in Ovotesticular Disorder of Sexual Development Open
Ovotesticular disorder of sexual development (DSD), formerly known as true hermaphroditism, is a rare form of DSD in which both testicular and ovarian tissues are present in the same individual either in a single gonad (ovotestis) or in op…