Eight years of follow-up experience in children with mendelian susceptibility to mycobacterial disease and review of the literature.

Background: Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency, caused by non-tuberculous mycobacteria or Bacillus Calmette-Guerin (BCG) vaccine and characterized by severe diseases in childhood.

Objective: In this study, we examined eight years followed-up 12 Turkish children with genetically proven MSMD and we tried to evaluate the survival rate with succesfull disease management, rate of consanguinity, molecular, cellular and clinical features of patients. In addition, we wanted to emphasize the importance of early diagnosis before administration of BCG vaccine in countries where this vaccine is routinely used.

Inborn errors of metabolism in palliative care.

Background: In parallel with the increase in the number of children with life-limiting or life-threatening diseases, the need for and right to pediatric palliative care is also increasing. This study aimed to examine the metabolic diseases, evaluate the symptoms, and review the needs of children who were admitted to the pediatric palliative care service.

Methods: Following the approval of the local ethics committee (18/7/2019-107), the computer records of patients hospitalized in the pediatric palliative care service between December 1, 2018 and January 6, 2019 were reviewed retrospectively.

and Mutations in a Highly Consanguineous Family.

We present a Turkish family with two cousins (OC15 and OC15b) affected with syndromic developmental delay, microcephaly, and trigonocephaly but with some phenotypic traits distinct between them. OC15 showed asymmetrical skeletal defects and syndactyly, while OC15b presented with a more severe microcephaly and semilobal holoprosencephaly. All four progenitors were related and OC15 parents were consanguineous.

A rare central nervous system tumor of childhood with spongiform appearance on brain magnetic resonance imaging; primary diffuse leptomeningeal oligodendrogliomatosis.

Primary diffuse leptomeningeal oligodendrogliomatosis is a rare fatal tumor of childhood. Symptoms usually occur when the tumor causes hydrocephalus. Brain magnetic resonance imaging (MRI) may be nearly normal in the early stages of the disease, while hydrocephalus and multiple leptomeningeal cysts with spongiform appearance may appear later on.

Bacteremia due to healthcare-associated urinary tract infections in children.

Background: Epidemiological data on secondary bacteremia associated with nosocomial urinary tract infections generally include adult patients with urinary catheters.

Aim: To evaluate the frequency and outcome of secondary bacteremia complicating healthcare-associated urinary tract infections.

Material And Methods: This study was conducted between May 2013 and December 2017 at the Dr.

Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants.

Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene. This retrospective study aims to evaluate the clinical manifestations and brain magnetic resonance images (MRI) analysis in 60 genetically confirmed NF1 patients. The results of next-generation sequencing (NGS), Sanger sequencing, and MLPA of NF1 gene were evaluated.

Effect of pyridoxine plus pyridostigmine treatment on vincristine-induced peripheral neuropathy in pediatric patients with acute lymphoblastic leukemia: a single-center experience.

Background: Vincristine (VCR), which is a key component of chemotherapy, is important for survival. VCR is associated with a well-known side effect, including neurotoxicity.

Aims: The aim of this study was to evaluate the features of vincristine-induced peripheral neuropathy (VIPN) and the effectiveness of pyridoxine plus pyridostigmine therapy in children with acute lymphoblastic leukemia.

Are infants with food allergy candidates for respiratory allergy?

Aim: Allergic sensitization in infancy generally develops against food allergens. We aimed to investigate the frequency of aero-allergens sensitization at older ages in infants with food allergy.

Material And Methods: This retrospective cross-sectional study was conducted in Dr.

A comprehensive update of ICET-A Network on COVID-19 in thalassemias: what we know and where we stand.

A review of the literature on COVID-19 pandemic in patients with thalassemias is presented. Globally, the prevalence of COVID-19 among  β-thalassemia patients seems to be lower than in general population; associated co-morbidities aggravated the severity of  COVID- 19, leading to a poorer prognosis, irrespective of age. A multicenter registry will enhance the understanding of COVID-19 in these patients and will lead to more evidence-based management recommendations.

Identification of novel TUBB1 variants in patients with macrothrombocytopenia.

Background/aim: Macrothrombocytopenia is an autosomal-dominant disorder characterized by increased platelet size and a decreased number of circulating platelets. The membrane skeleton and the link between actin filaments of the skeleton and microtubules, which consist of alpha and beta tubulin [including the tubulin beta-1 chain (TUBB1)] heterodimers, are important for normal platelet morphology, and defects in these systems are associated with macrothrombocytopenia.

Materials And Methods: In this study, we sequenced the exons of the TUBB1 gene using DNA isolated from the peripheral blood samples of healthy controls (n = 47) and patients with macrothrombocytopenia (n = 37) from Turkey.

Adverse reactions and influencing factors in children with primary immunodeficiencies receiving intravenous immunglobulin replacement.

Objectives: We aimed to determine adverse reactions and influencing factors, within the scope of the number of patients and total infusions, in patients with primary immunodeficiencies receiving intravenous immunoglobulin (IVIG) replacement.

Materials And Methods: Children with primary immunodeficiencies receiving IVIG replacement in Izmir Dr Behcet Uz Children's Hospital, between June 2014 and June 2016, were included in our study.

Results: The total number of the patients receiving IVIG replacement was 145 (37 female, 108 male).

Preliminary Data on COVID-19 in Patients with Hemoglobinopathies: A Multicentre ICET-A Study.

Objectives: This study aims to investigate, retrospectively, the epidemiological and clinical characteristics, laboratory results, radiologic findings, and outcomes of COVID-19 in patients with transfusion-dependent β thalassemia major (TM), β-thalassemia intermedia (TI) and sickle cell disease (SCD).

Design: A total of 17 Centers, from 10 countries, following 9,499 patients with hemoglobinopathies, participated in the survey.

Main Outcome Data: Clinical, laboratory, and radiologic findings and outcomes of patients with COVID-19 were collected from medical records and summarized.

Comparison of the effectiveness of simple carbohydrates on hypoglycemic episodes in children and adolescents with type 1 diabetes mellitus: A randomized study in a diabetes camp.

Background: Hypoglycemia is the most common and severe complication of insulin treatment during the management of type 1 diabetes mellitus (T1DM). Despite its importance, there is a lack of data about the efficacy and superiority of the carbohydrate sources used in hypoglycemia management in children and adolescents.

Objective: We aimed to compare the effectiveness of honey, fruit juice, and sugar cubes as simple carbohydrates used in the primary treatment of hypoglycemia in children and adolescents with T1DM, who attended a diabetes summer camp.

Short-term efficacy of ORS formulation and propranolol regimen in children with POTS.

Background: To evaluate the short-term effectiveness of reduced-osmolarity oral rehydration salt formulation (ORS) and propranolol in children diagnosed with postural orthostatic tachycardia syndrome (POTS) in head-up tilt testing (HUTT).

Methods: Children were admitted with symptoms of orthostatic intolerance (OI) occurring in a standing position and disappearing in the supine position. Patients with heart rate increments of ≥40bpm and symptoms of OI constituted the pediatric POTS group in HUTT.

The Importance of Thiopurine S-Methyltransferase Gene Analysis Before Azathioprine Therapy.

Neuromyelitis optica is an inflammatory central nervous system syndrome associated with serum aquaporin-4 IgG antibody. Optic nerve and spinal cord involvement is typical. We report a 9-year-old girl with a diagnosis of neuromyelitis optica, who developed azathioprine-induced pancytopenia that was subsequently found to be caused by thiopurine-methyltransferase mutation.

Retrospective evaluation of childhood paraphenylenediamine intoxication due to black henna.

Background And Objectives: Paraphenylenediamine (PPD) is a toxic substance in henna. Oral intake of this substance causes severe systemic toxicity. To the best of our knowledge there are no studies in the literature conducted only on children exposed to henna intoxication.

Serotype distribution of in children with invasive disease in Turkey: 2015-2018.

: To determine the serotype distribution of pneumococcus causing invasive pneumococcal disease (meningitidis, bacteremia and empyema) in children in Turkey, and to observe potential changes in this distribution in time to guide effective vaccine strategies. : We surveyed with conventional bacteriological techniques and with real-time polymerase chain reaction (RT-PCR) in samples of cerebrospinal fluid (CSF), blood and pleural fluid. strains were isolated from 33 different hospitals in Turkey, which are giving health services to approximately 60% of the Turkish population.

Influenza-related hospitalizations due to acute lower respiratory tract infections in a tertiary care children's hospital in Turkey.

Background: The influenza virus is a significant cause of acute lower respiratory tract infections (LRTI) requiring hospitalization in childhood and leads to severe morbidity and mortality, especially in certain risk groups.

Objectives: The study aims to evaluate acute LRTI due to influenza in a tertiary care hospital and the risk factors for hospitalization among Turkish children.

Study Design: Children between 1 month and 18 years of age who were hospitalized at Dr.

Infection control practices in children during COVID-19 pandemic: Differences from adults.

Background: Limited studies have been published on practices and management of Coronavirus Disease 2019 (COVID-19) in children. Despite the fact that COVID-19 rarely caused any severe disease in children, the asymptomatic children might be playing an important role for spreading COVID-19 in healthcare facilities. This review aimed at sharing our experience of how to handle patients with COVID-19 in a pediatric referral and tertiary care hospital to prevent the possible transmissions to the healthcare workers (HCWs).

Correction to: Central line bundle including split-septum device and single-use prefilled flushing syringes to prevent port-associated bloodstream infections: a cost and resource-utilization analysis.

An amendment to this paper has been published and can be accessed via the original article.

Do microdeletions lead to immune deficiency?

Introduction: Microdeletion syndromes may be accompanied by immunological disorders. This study aimed to evaluate the clinical and laboratory data as well as the immune functions of patients diagnosed with a microdeletion syndrome.

Material And Methods: 39 patients diagnosed with microdeletion syndrome who were monitored at the Pediatric Genetics and Immunology clinics at Dr.

Validity and reliability analysis of the Turkish version of pediatric nutritional risk score scale.

Background/aims: We aimed to perform the validity and reliability analysis of the Turkish version of the Pediatric Nutritional Risk Score (PNRS).

Materials And Methods: The study group consisted of 149 patients aged between 1 month and 18 years who were admitted to the hospital for at least 48 h. The patients' age, gender, anthropometric measurements, length of stay, admission diagnosis, daily body weights, food consumption, and pain status were recorded.

Central line bundle including split-septum device and single-use prefilled flushing syringes to prevent port-associated bloodstream infections: a cost and resource-utilization analysis.

Background: Central line bundle programs were found to be effective in decreasing central line-associated bloodstream infection rates in pediatric cancer patients with ports. However, cost-effectiveness studies of central line bundle programs in pediatric cancer patients are limited, and most available data are from intensive care unit or adult studies.

Methods: In this cross-sectional study spanning 6 years, comprehensive assessment of total health care costs attributable to CLABSI's associated with ports between two periods.