Hemophilia is a single gene disorder and as a genetical coagulation system problem it is a life-long bleeding disorder. Even though routine treatment modalities as plasma-derived and then recombinant factor concentrates available for last 50 years, unmet needs is continuing for hemophilia therapy. Gold standart treatment is regularly prophylactic FVIII/FIX infusions. However, life-long and frequent intra-venous infusions become medical burden for patients and families. New agents as enhanced half-life (EHL) factor concentrates and non-factor therapies which are able to be used subcutaneously are very hopeful. In this review, EHL factor concentrates, FVIII mimetic agents and re-balancing therapies will be discussed. Although celluler gene therapy is very hopeful and successful phase-3 studies are reported, gene therapy for hemophilia will not be mentioned in this review.

Objective: It is well known that there are different rates of liver damage in celiac disease (CD). A wide spectrum of cases has been reported, ranging from asymptomatic transaminase elevation to cirrhosis. In this study, we investigated the frequency and clinical features of liver stress in children diagnosed with CD in our department.
Methods: Patients who were aged 1-18, serologically and histologically diagnosed as having CD and followed up were retrospectively included. Medical history, physical examination, serum anti-tissue transglutaminase and anti-endomysium antibodies, duodenal histology, liver function tests and imaging findings were evaluated.
Results: One hundred and eleven patients were included in the study. Of the patients, 74 were girls (64%) and 40 were boys (36%), and the mean age of admission was 7.1±4.3 years (1-18 years). The follow-up period was 3.5±4.4 (1-16) years. At diagnosis, alanine aminotransferase (ALT) was elevated in 5 (4.5%) of the 111 patients, and at follow-up, 3 patients were found to have lower levels that returned to the normal range. Elevation of gamma-glutamyl transferase (GGT) (3.7%) was found in 4 patients. Sclerosing cholangitis was diagnosed by liver biopsy in 2 patients with elevated GGT. Abdominal ultrasonography (USG) was performed in 50 (45%) patients. Hepatomegaly was found in 4 (3.6%) of these 50 patients and biliar dilatation in 2 (1.8%) patients. Abdominal USG also revealed hepatomegaly in 4 patients, without elevation in GGT and ALT levels.
Conclusion: We found 8% liver-related findings at the time of diagnosis in children with CD. No new liver effects were observed in 29% of patients followed up for five years.

Objective: Various pharmaceuticals may be involved in pediatric intoxications, and treatment can be challenging for physicians. However knowledge of the clinical manifestations and prognosis of intoxication will be of assistance to physicians in conducting an appropriate clinical evaluation. The purpose of this study was to analyze the patient characteristics, outcomes and clinical features of pediatric intoxication.
Methods: One hundred eighty five children aged between 1 and 17 years with pharmaceutical intoxication (135 mild, 18 moderate, and 32 severe cases) were included in the study. Demographic characteristics, clinical features, and outcomes were compared between the subgroups of clinical severity and in terms of reasons for exposure.
Results: Suicidal behaviour was responsible for 61.1% and accidental exposure for 38.9% of intoxications. The drug group most frequently responsible for intoxication was analgesic-antipyretic medications. Clinical severity, length of hospitalization, and multiple drug intoxication rates were higher in the suicide group than in the accidental group (p=0.037, p=0.016, and p<0.001 respectively). Mortality occurred in one patient.
Conclusion: Analgesics and neurological system agents were responsible for the majority of intoxications. Intoxication for purposes of suicide resulted in longer hospital length of stay, and greater clinical severity than accidental poisoning. Understanding the differences between intentional and accidental intoxication may be assistance to physicians in performing appropriate assessments.

Objective: Skeletal dysplasia is a heterogeneous group of diseases that lead to abnormal enchondral ossification and typing of the disease is quite complex. C-type natriuretic peptide (CNP), one of the members of the natriuretic peptide family, has been implicated in bone development, and CNP levels are high in some types of skeletal dysplasia. The aim of this study was to evaluate the use of CNP as a marker for skeletal dysplasia types and to investigate its role in typing.
Methods: Thirty-seven patients aged six months to 18 years [26 (70.3%) girls] were included in this cross-sectional study from among 75 skeletal dysplasia patients. All subjects were physically examined; anthropometric measurements were obtained, and bone surveys were evaluated. ELISA was used to assess CNP plasma levels. Forty-nine healthy children aged six months to 18 years [24 girls (49%)] comprised the control group.
Results: The CNP concentration of the patient group (n=37) was 1.31±1.40 ng/mL which was similar to the control group (n=49) at 1.04±1.40 ng/mL (p=0.207). However, the CNP concentration of patients with achondroplasia (n=17) was significantly higher (1.79±1.64 ng/mL) than the control group (p=0.032).
Conclusion: Our study contributes evidence concerning CNP values of both healthy children and children with skeletal dysplasia. Compared with healthy children, those with achondroplasia have elevated plasma levels of CNP. Further larger studies are necessary to assess the use CNP as a marker for the diagnosis and typing of skeletal dysplasia.

Due to having medical knowledge, sometimes doctors may not need to refer to other doctors in case of illness of themselves or their relatives. Therefore, the correct diagnosis may be delayed. This paper discussed this issue from the perspective of a daughter whose father, a doctor, caused the diagnosis of her diseases to be delayed. However, delay in diagnosis is difficult to measure, reasons for the delay can originate from the system or can be caused by the course of the disease, by the patient, and sometimes by physicians, as in our patient.

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease characterized by bone marrow dysfunction, exocrine pancreatic insufficiency and skeletal abnormalities. Persistent or intermittent neutropenia caused by bone marrow hypoplasia is the most common hematological abnormality in SDS. It can be difficult to diagnose the disease that usually occurs in early childhood. SDS should be kept in mind in the differential diagnosis of neutropenic patients. If the signs of pancreatic insufficiency are not observed, the diagnosis may be missed. The article wanted to present a patient with pancreatic insufficiency and SDS with the biallelic mutation who presented with neutropenia in a newborn.