Antenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in Newborns.

Signs of virilization, such as clitoromegaly, labio-scrotal fusion, and urogenital sinus may be observed in females with 21-hydroxylase deficiency (21-OHD) and other rare virilizing forms of congenital adrenal hyperplasia (CAH). This makes sex determination difficult, and multiple reconstructive surgeries in the postnatal period may be required. As 21-OHD is an autosomal recessive disease, the chance of any child being affected is one in four and so only one in eight will be an affected female.

Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency.

Although the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21OHD), which accounts for more than 95% of cases, other rare causes of CAH such as 11 beta-hydroxylase deficiency (11βOHD), 3 beta-hydroxy steroid dehydrogenase (3β-HSD) deficiency, 17 hydroxylase deficiency and lipoid CAH may also be encountered in clinical practice. 11βOHD is the most common type of CAH after 21OHD, and CYP11B1 deficiency in adrenal steroidogenesis causes the inability to produce cortisol and aldosterone and the excessive production of adrenal androgens. Although the clinical and laboratory features are similar to 21OHD, findings of mineralocorticoid deficiency are not observed.

Treatment and follow-up of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Childhood and Adolescence.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. More than 95% of the cases occur as a result of defects in the gene encoding 21-hydroxylase (CYP21A2). 21 hydroxylase deficiency has been divided into classical and non-classical forms.

Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. Between 90% and 99% of cases of CAH are caused by 21-hydroxylase deficiency (21OHD) caused by mutations in CYP21A2. Although 21OHD has been historically divided into classical and non-classical forms, it is now thought to show a continuous phenotype.

What's new in the pediatric spine?

Introduction: The field of pediatric spine surgery has encountered major changes and evolutions lately, with new treatment options available and the development of enabling technologies. This article aims to summarize the most relevant recent literature.

Materials And Methods: The five most relevant topics were selected and assigned to one or two authors who performed a comprehensive Pubmed database search for articles published in the last 4 years (2021-2024).

Milk ladder: Who? When? How? Where? with the lowest risk of reaction.

The milk ladder (ML) approach, which is the gradual reintroduction of the milk allergen from the least allergenic forms to the most allergenic forms into the diet of the patients, has been utilized mostly in non-IgE-mediated but in some countries also in IgE-mediated-CMPA due to its possible benefits which include nutrition, quality of life and tolerance induction. Despite increasing interest, so far, there is no guideline on ML; thus, the use of this approach shows discrepancies among healthcare professionals as many factors such as dietary habits, patient history, test results, workload, and facilities of the hospitals, the anxiety of the parents/patients may affect the decision on how, when, where and whom to use ML. Here, we reviewed current data on implementing the ML, suggested a 4-step ML including receipts and amounts, and shared our experience on optimal patient selection, appropriate time and steps for initiating ML, and time intervals between the steps targeting the lowest risk of reaction.

The relationship between serum phenylalanine levels, genotype, and developmental assessment test results in non-phenylketonuria mild hyperphenylalaninemia patients.

Unlabelled: Phenylalanine (PA) levels below 360 µmol/L do not require treatment; however, cognitive deficits have been observed in patients with elevated PA levels, necessitating a safe upper limit for treatment and therapeutic objectives. The main purpose of this study is to evaluate the correlation between developmental assessments (Denver Developmental Screening Test-II [DDST-II] and Ankara Developmental Screening Inventory [ADSI]) and electroencephalogram (EEG) findings with blood PA levels and genotypic data in non-phenylketonuria mild Hyperphenylalaninemia (HPA) patients, to re-evaluate their treatment status based on potential adverse outcomes. This study encompassed 40 patients aged 1-5 years diagnosed with HPA and not on treatment, identified through initial blood PA levels, and monitored for a minimum of 1 year on an unrestricted diet.

Central precocious puberty in a toddler with hypothalamic hamartoma.

Objectives: Hypothalamic hamartoma (HH) is a rare condition that causes epilepsy and central precocious puberty (CPP) at an early age. In this report, we describe a child with CPP secondary to HH and discuss the current literature.

Case Presentation: A 26-month-old girl was brought to our hospital for evaluation of breast enlargement.

Integrating cancer into crisis: a global vision for action from WHO and partners.

More than a billion people live in fragile, conflict-affected, and vulnerable settings requiring humanitarian support, where cancer is a substantial health issue. Despite its substantial effect on populations, cancer care remains underprioritised in emergency preparedness and response frameworks and humanitarian operational planning. This Policy Review summarises the perspectives and actionable recommendations from the First Global High-Level Technical Meeting on Non-communicable Diseases in Humanitarian Settings, with a focus on cancer.

Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.

Glycogen storage disorders (GSD) GSD-IX are characterized by deficiencies in muscular and/or hepatic phosphorylase enzymes. GSD type IX za is an X-linked disorder, while IXb and IXc are autosomal recessive disorders resulting from pathogenic variants in the genes encoding the Phosphorylase b Kinase regulatory subunit alpha (PHKA), beta (PHKB), and gamma (PHKG), respectively. Despite progress in understanding these diseases, there are still unclear questions regarding their clinical manifestations, genetic variations, and the relationship between genotype and phenotype.

Pediatric cochlear implantation in otitis media with effusion: Are ventilation tubes truly necessary?

Objective: We aimed to evaluate the clinical findings of our cochlear implant (CI) patients with otitis media with effusion (OME) and CI patients treated with ventilation tube (VT) for OME.

Methods: The medical records of patients who underwent CI surgery at Hacettepe University, Department of Otorhinolaryngology, between November 1997 and March 2023 were reviewed. Patients who had OME or VT in the implanted ear at the time of surgery were included in the study.

Evaluation of pediatric spinal ependymomas: A 25-year retrospective observational study.

This study aims to evaluate the clinical and radiological features, histopathological characteristics, treatment modalities, and their effectiveness, as well as long-term follow-up results of pediatric spinal ependymomas treated at a single institution. In this retrospective study, medical records of 14 pediatric patients (3 females and 11 males) who were surgically treated for spinal ependymoma in our institution between 1995 and 2020 were reviewed. Data regarding age, gender, presenting symptoms and signs, radiological findings, postoperative status, extent of resection, histopathological grading, recurrence, tumor growth, seeding, and adjuvant treatment were collected and analyzed.

Comparative analysis of protein expression profiles with genotypes in the diagnosis of Inborn Errors of Immunity.

Background: Inborn Errors of Immunity (IEIs) are genetic diseases resulting from harmful genetic variations that hinder the proper functioning of the immune system. The broad range of IEIs involves multiple systems, presenting characteristics similar to allergies, autoimmune or inflammatory diseases, and malignancies. Given this complexity, there is an urgent need for a precise multi-parametric molecular diagnostic approach.

Association between timing of maternal energy consumption and adiposity in breastfeeding infants: A prospective cohort study.

Background: Lactating women's food intake timing may play a critical role in maternal and infant nutrition health. We aimed to examine associations of breastfeeding mothers' diet quantity and circadian timing of food intake with subsequent weight status of exclusively breastfed infants over a 6-month period.

Methods: This prospective observational study comprised pairs of healthy singleton breastfed infants and their corresponding healthy lactating mothers.

Optimizing Individualized Antimicrobial Dosing in Pediatric Patients: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.

Background: Therapeutic drug monitoring (TDM) and target concentration intervention (TCI) represent significant advancements in individualized medicine, aiming to tailor dosages based on patient-specific characteristics. These approaches account for intra- and inter-individual physiological and clinical variability, with the goal of improving target attainment and clinical remission while reducing treatment failure and adverse effects.

Objectives: The objective is to assess and enhance the current body of randomized controlled trials (RCTs) that have investigated alternative personalized dosing strategies, such as TDM and TCI, in terms of their efficacy and safety for individualized antimicrobial dosing in pediatric populations.

Examining the Role of Exercise Training in Enhancing Life for Adult Congenital Heart Disease: Systematic Review.

Background: Current guidelines advise exercise for most congenital heart disease patients (CHD). However, physical activity remains low in CHD individuals, with limited research on exercise's effects in adults.

Objectives: The aim of this study is to evaluate the safety and efficacy of exercise training on exercise capacity and quality of life in adult congenital heart disease (ACHD) patients.

Citrate Anticoagulation in Continuous Renal Replacement Therapy: Multicenter PICU Study of Filter-Related Outcomes.

Objectives: To examine citrate anticoagulation in continuous renal replacement therapy (CRRT) in the PICU.

Design: Post hoc analysis of a curated, multicenter dataset collected from January 1, 2022, to June 1, 2023.

Setting: Seven PICUs in Turkey.

Evaluation of cardiac function using echocardiography in childhood-onset systemic lupus erythematosus patients treated with hydroxychloroquine.

Background: This study aimed to evaluate the effects of hydroxychloroquine on cardiac functions and left ventricular mass in patients with childhood-onset systemic lupus erythematosus (cSLE).

Research Design And Methods: Fifty patients with cSLE undergoing treatment with hydroxychloroquine underwent echocardiographic evaluation. All patients exhibited negative disease activity markers and were clinically in remission.

Definition of sinonasal and otological exacerbation in patients with primary ciliary dyskinesia: an expert consensus.

Background: Recurrent infections of the nose, sinuses and ears are common problems for people with primary ciliary dyskinesia. While pulmonary exacerbations in primary ciliary dyskinesia are defined, there is no definition for ear-nose-throat exacerbations, a potential outcome for research and clinical trials.

Methods: We set up an expert panel of 24 ear-nose-throat specialists, respiratory physicians, other healthcare professionals and patients to develop consensus definitions of sinonasal and otological exacerbations in children and adults with primary ciliary dyskinesia for research settings.

Covered Stent Correction for Sinus Venosus Atrial Septal Defects, an Emerging Alternative to Surgical Repair: Results of an International Registry.

Background: Covered stent correction for a sinus venosus atrial septal defect (SVASD) was first performed in 2009. This innovative approach was initially viewed as experimental and was reserved for highly selected patients with unusual anatomic variants. In 2016, increasing numbers of procedures began to be performed, and in several centers, it is now offered as a standard of care option alongside surgical repair.

The frequency of serious bacterial infection in febrile infants less than 90 days infected with SARS-CoV-2 and other respiratory viral pathogens.

Background: The primary aim of this study was to compare the groups, SARS-CoV-2-positive and -negative patients, in terms of the frequency of SBI. The SARS-CoV-2-positive group was compared with the other-RVPs-positive group as a secondary evaluation in terms of serious bacterial infection (SBI).

Methods: This retrospective multicenter cohort study was conducted at four university hospitals from March 2020 to December 2021.