Defective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans.

IKKα is a multifunctional serine/threonine kinase that controls various biological processes, either dependent on or independent of its kinase activity. However, the importance of the kinase function of IKKα in human physiology remains unknown since no biallelic variants disrupting its kinase activity have been reported. In this study, we present a homozygous germline missense variant in the kinase domain of IKKα, which is present in three children from two Turkish families.

Evaluation of Complementary Feeding Indicators Among Children Aged 6-23 Months According to the Health Literacy Status of Their Mothers.

Background/objectives: Infant and young child feeding (IYCF) practices directly affect child health, development, and survival, especially under 2 years of age and ultimately affect adult life well-being. As the primary caregivers of the children, mothers with higher health literacy may better perceive the benefits of optimal complementary feeding practices, leading to improved health outcomes for their children. In this study, we aimed to assess complementary feeding practices among children aged 6-23 months in Turkey according to 2021 World Health Organization IYCF indicators [minimum dietary diversity (MDD); minimum meal frequency (MMF); minimum acceptable diet (MAD); egg and/or flesh food consumption (EFF); sweet beverage consumption (SwB); unhealthy food consumption (UFC); zero vegetable or fruit consumption (ZVF); and bottle feeding (BoF)] and investigate their associations with sociodemographic characteristics and mothers' health literacy.

Heavy Metal and Trace Element Status and Dietary Determinants in Children with Phenylketonuria.

Heavy metals are a group of metals and metalloids that have a relatively high density. They can cause toxicity even at very low levels. Trace elements are required by all living organisms to maintain their normal growth, metabolism, and development.

Inborn Errors of Immunity-related Immunological Mechanisms and Pharmacological Therapy Alternatives in Periodontitis.

Periodontitis is a frequent local inflammatory disease. The microbiota and repeated exposure to bacterial endotoxins triggers excessive inflammation through oral mucosal immunity, sometimes leading to a destructive effect on the supportive mucosal tissues around the teeth. Elimination of the pathogens and increasing the tolerance of the cellular immune response is crucial in addition to standard dental therapies like mechanical debridement.

Are adolescents with premenstrual disorder at risk for cardiac arrhythmias?

Background: One of the most commonly experienced symptoms of premenstrual disorder (PMD) is anxiety, and there is a notable rise in sympathomimetic activity in this patient group. Studies have linked fluctuations in systemic autonomic tone to electrocardiography (ECG) changes. This study aims to investigate the relationship between anxiety, a common symptom of PMD, and alterations in QT dispersion (QTd) and P-wave dispersion (Pd) in adolescent females.

Regulation of MYC by CARD14 in human epithelium is a determinant of epidermal homeostasis and disease.

Caspase recruitment domain family member 14 (CARD14) and its variants are associated with both atopic dermatitis (AD) and psoriasis, but their mechanistic impact on skin barrier homeostasis is largely unknown. CARD14 is known to signal via NF-κB; however, CARD14-NF-κB signaling does not fully explain the heterogeneity of CARD14-driven disease. Here, we describe a direct interaction between CARD14 and MYC and show that CARD14 signals through MYC in keratinocytes to coordinate skin barrier homeostasis.

Prevalence of premenstrual syndrome in adolescent girls.

Background: Premenstrual syndrome (PMS) is characterized by physical, cognitive, emotional, and behavioral symptoms that appear during the luteal phase of the menstrual cycle, disappear after menstruation, and are recurrent in every cycle. PMS significantly affects the social and academic lives of adolescents, and historically, it has been neglected by healthcare professionals. We aimed to evaluate the current point prevalence of PMS in Turkish adolescents presented to a tertiary adolescent medicine clinic.

The contribution of milk substitutes to the nutritional status of children with cow's milk allergy.

Background: The impact of alternative milk substitutes on the nutritional status of children with cow's milk allergy (CMA), the prevailing cause of food allergies, is unresolved.

Methods: A cross-sectional study was performed in children older than 2 years with IgE-mediated CMA. Patients' clinical characteristics, anthropometric measurements, dietary intake (by 3-day food diary), and biochemical markers of nutritional status were assessed.

17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.

Purpose: 17α Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management.

Methods: Data from 97 nationwide cases were analyzed using the CEDD-NET web system.

Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report.

Objectives: Dihydropyrimidinase deficiency is a rare autosomal recessive disorder of the pyrimidine degradation pathway, with fewer than 40 patients published. Clinical findings are variable and some patients may remain asymptomatic. Global developmental delay and increased susceptibility to 5-fluorouracil are commonly reported.

Impact of interruption of CFTR modulator therapies.

Novel drug therapy targeting the defective cystic fibrosis transmembrane conductance regulator protein has the potential to significantly enhance the quality of life for numerous patients with cystic fibrosis. However, in some countries social insurance does not pay for modulators because these drugs are extremely expensive. This study sought to understand the impact on the health of children whose modulator treatments were interrupted because of legal procedures and delivery processes.

Recognition of nuts and seeds in children with/without food allergies and their mothers: A reflection of culinary culture.

Background: Nuts and seeds are among the leading causes of food allergy. Effective food allergy management hinges on the ability to identify and avoid relevant foods.

Aim: To evaluate the nut/seed recognition ability in both children and mothers.

APECED and the place of AIRE in the puzzle of the immune network associated with autoimmunity.

In the last 20 years, discoveries about the autoimmune regulator (AIRE) protein and its critical role in immune tolerance have provided fundamental insights into understanding the molecular basis of autoimmunity. This review provides a comprehensive overview of the effect of AIRE on immunological tolerance and the characteristics of autoimmune diseases in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), which is caused by biallelic AIRE mutations. A better understanding of the immunological mechanisms of AIRE deficiency may enlighten immune tolerance mechanisms and new diagnostic and treatment strategies for autoimmune diseases.

Galectin-3 levels in children with cystic fibrosis.

Cystic fibrosis (CF) is a multisystemic disease in which airway obstruction, infection, and inflammation play a critical role in the pathogenesis and progression of CF lung disease. The carbohydrate-binding protein Galectin-3 is increased in several inflammatory and fibrotic diseases and has recently been forwarded as a biomarker in these diseases. We aimed to define the role of serum Galectin-3 in children with CF by comparison with healthy subjects.

Adult congenital heart disease training in Europe: current status, disparities and potential solutions.

Objectives: This study aimed to determine the status of training of adult congenital heart disease (ACHD) cardiologists in Europe.

Methods: A questionnaire was sent to ACHD cardiologists from 34 European countries.

Results: Representatives from 31 of 34 countries (91%) responded.

Nutritional risks in children with food allergy.

Food allergies (FA) are a growing problem in the pediatric population and clinical features differ according to the underlying immunological mechanisms. While the primary management strategy is to eliminate the culprit food from the diet, assessment of the potential nutritional risks of elimination is also an integral part of management. In cases that do not improve over time; if you have basic food allergies and multiple food allergies, this can also lead to negative nutritional consequences.

Childhood interstitial lung disease in Turkey: first data from the national registry.

The childhood interstitial lung diseases (chILD) Turkey registry (chILD-TR) was established in November 2021 to increase awareness of disease, and in collaboration with the centers to improve the diagnostic and treatment standards. Here, the first results of the chILD registry system were presented. In this prospective cohort study, data were collected using a data-entry software system.

Interplay between carotid artery dissection and thrombophilia leading to ischaemic stroke after minor head trauma in an adolescent: a case report.

Stroke in children is more common than is often realised; there are numerous potential causes, including carotid artery injury resulting from minor head or neck trauma, as well as genetic conditions associated with thrombophilia. A 13-year-old boy suffered an arterial ischaemic stroke (AIS) secondary to dissection of the left internal carotid artery (ICA) after he headed the ball during a game of football. He presented with generalised tonic-clonic seizure, loss of consciousness, right-sided hemiplegia and aphasia.

Glycogen storage diseases: An update.

Glycogen storage diseases (GSDs), also referred to as glycogenoses, are inherited metabolic disorders of glycogen metabolism caused by deficiency of enzymes or transporters involved in the synthesis or degradation of glycogen leading to aberrant storage and/or utilization. The overall estimated GSD incidence is 1 case per 20000-43000 live births. There are over 20 types of GSD including the subtypes.