Pubertal Stage-Dependent Anthropometric Variations in Turkish Children with Adolescent Idiopathic Scoliosis: An In-Depth Analysis.

BACKGROUND Identifying predictive factors for anthropometric changes during puberty in adolescent idiopathic scoliosis (AIS) is critical for prognosis and management. This study aimed to discern these factors in the Turkish AIS population, by analyzing variations against female breast development stages and male testicular volume, benchmarked against national standards. MATERIAL AND METHODS A cross-sectional study was conducted between 2018 and 2022, involving children aged 10 to 18 years from the Orthopedics and Pediatrics Clinics. AIS patients and controls were assessed concerning pubertal status (Tanner stage), chronological age, skeletal maturation (Tanner-Whitehouse), and anthropometric parameters (height, weight, and body mass index). RESULTS AIS patients were compared to controls, stratified by pubertal stages. In girls across all stages, significant differences emerged in bone age, BMI, and weight between AIS and controls (p<0.01). In boys, AIS patients significantly differed in bone age from controls across all stages (p<0.001). At stage V, controls demonstrated higher BMI than AIS boys (p<0.001), while at stage I, AIS boys had significantly higher height and weight compared to controls (p<0.001). CONCLUSIONS AIS patients demonstrate distinctive pubertal growth abnormalities, with males and females presenting divergent patterns. Understanding these variations could inform better management of AIS during the critical pubertal growth period.

Association Among Complete Blood Count Parameters, Bone Mineral Density, and Cobb Angle in Cases of Adolescent Idiopathic Scoliosis.

BACKGROUND Improving the quality of life of scoliosis patients with appropriate preventive measures is critical. This study aimed to investigate the relationships among bone mass, Cobb angle, and complete blood count (CBC) parameters in patients with scoliosis. MATERIAL AND METHODS This joint study was conducted by the pediatric department and orthopedics clinics, which used the medical records of patients aged 10-18 years between 2018 and 2022. Patients were divided into 3 groups according to the Cobb angle. Patient blood count levels from medical records and bone mineral density (BMD) Z scores (g/cm²) were compared among groups. Notably, BMD Z scores were calculated using a (BMD) dataset from local Turkish children after adjusting for height and age. RESULTS A total of 184 individuals (120 females, 64 males) were included in the study. There were statistically significant differences among the groups in platelet-to-lymphocyte ratio (PLR). Significant differences in DXA Z scores among groups were found. There was a significantly strong and positive correlation between DXA Z scores and all CBC parameters in patients with severe scoliosis. CONCLUSIONS This study found that CBC parameters can predict BMD in adolescents. Furthermore, the association between vitamin D deficiency and low BMD may contribute to the follow-up of body adaptation in patients with scoliosis receiving conservative treatment.

Association of Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorders with Mean Platelet Volume and Vitamin D.

BACKGROUND The purpose of this study was to assess the values of the mean platelet volume (MPV) in children with attention deficit hyperactivity disorder (ADHD) and with autism spectrum disorders (ASDs) to determine the risk of cardiovascular disease in these 2 disorder groups. MATERIAL AND METHODS The study included a total of 79 patients with ADHD or ASDs and controls in the Van region of Turkey. The control group included subjects of matching age and sex with no ADHD, ASDs, or chronic disease and taking no vitamins. The hematological parameters of the patients, including MPV, vitamin B12, and vitamin D, were assessed. RESULTS The study included a total of 79 children and adolescents aged 2-18 years (32 females and 47 males). Of the patients, 36 were in the ADHD group, 18 in the ASDs group, and 25 in the control group. There was no statistically significant difference in hematological parameters between the groups, but there were significant differences in terms of vitamin D and vitamin B12. The patient groups showed lower levels of vitamin B12 and vitamin D. In the ADHD group, there was a negative correlation between both vitamins and MPV (p<0.05). Partial correlation analysis of the ADHD group showed that MPV in particular was negatively correlated to vitamin D, and not to vitamin B12 (p: 0.03). CONCLUSIONS Both ADHD and ASDs may accompany increased risk for cardiovascular disease due to the presence of vitamin B12 and D deficiency and their own characteristics. Therefore, these disorders should be closely followed up.

The Syndrome of Inappropriate Secretion of Anti-Diuretic Hormone (SIADH) and Brucellosis.

BACKGROUND Our study aimed to demonstrate the frequency of the syndrome of inappropriate ADH secretion (SIADH) and associated factors during the course of brucellosis in children and adolescents. MATERIAL AND METHODS The study included children and adolescents aged 0-18 years old diagnosed with brucellosis between 2012 and 2014. The data were collected from patient charts. The diagnosis of brucellosis was made based on titrations >1:160 in standard Wright tube agglutination tests and/or positive culture tests. SIADH diagnosis was made based on the following criteria: euvolemic hyponatremia, serum Na+ <135 mmol/L, presence of serum hypoosmolarity (serum osmolarity <275 mOsm/L), increased urinary sodium (>25 mmol/L with normal dietary salt intake), low uric acid (<2 mg/dL), absence of kidney, thyroid or adrenal disease, and any anti-diuretic use. RESULTS The study included 160 children and adolescents with mean age of 9.58±3.95 years (range: 2-18 years) including 70 girls (43.8%) and 90 boys (56.2%). When the patients were stratified based on SIADH, it was found that SIADH was present in 35 patients (21.9%). SIADH was associated with elevated glucose (p<0.001), ALT (p<0.05), AST (p<0.05), LDH (p<0.001), CRP (p<0.001), and MPV (p<0.001); and decreased potassium (p<0.05), chloride (p<0.001), albumin (p<0.001), total protein (p<0.05), and hemoglobin (p<0.05) levels. CONCLUSIONS Our study reports on the frequency, clinical characteristics, predisposing factors, and management of SIADH that can develop in children and adolescents diagnosed with brucellosis.

Severe cases of osteogenesis imperfecta type VIII due to a homozygous mutation in P3H1 (LEPRE1) and review of the literature.

BACKGROUND: Osteogenesis imperfecta (OI) is a genetic disorder that causes skeletal fragility, multiple fractures and several extraskeletal disorders. Most cases of OI are caused by mutations in COL1A1/A2. Osteogenesis imperfecta type VIII typically causes a severe and fatal phenotype that presents at birth with severe osteopenia, congenital fractures and other clinical manifestations. OBJECTIVES: We describe the cases of an 11-year-old female and a 9-year-old male with homozygous truncating mutations in P3H1. Both cases were born with intrauterine fractures and suffered multiple fractures shortly after birth, requiring multiple operations to correct both fractures and severe scoliosis. The patients have been treated with pamidronate since the age of 2. MATERIAL AND METHODS: Whole exome sequencing (WES) was performed by Gene by Gene using Twist Bioscience technology. Initially, ~36.5 Mb of consensus coding sequences (targeting >98% of RefSeq and Gencode v. 28 regions obtained from the human genome) was replicated from fragmented genomic DNA using the Twist Human Core Exome Plus kit. The subsequent library was sequenced on the Illumina Novaseq Next Generation Sequencing platform to achieve at least ×20 reading depth for >98% of the targeted bases. Variant annotations and filtering was performed using Ingenuity Variant Analysis software. RESULTS: We identified a homozygous mutation in the 3rd exon of P3H1 (c.628C>T/p.Arg210 Ter). Our cases broaden the phenotypic spectrum of OI type VIII as, to the best of our knowledge, these are the first postnatal cases with P3H1 (c.628C>T/p.Arg210 Ter) mutations published in the literature. CONCLUSIONS: We present the first recorded postnatal cases from unrelated families of OI type VIII, broadening our understanding of the severe, but nonfatal spectrum of clinical phenotype of this recessive form of OI.

Hormone disorder and vitamin deficiency in attention deficit hyperactivity disorder (ADHD) and autism spectrum disorders (ASDs).

BACKGROUND: The aim of this study was to analyze thyroid hormones and antibodies, ferritin, vitamins B12 and D, adrenal and gonadal steroid levels, and celiac antibodies in children diagnosed with attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). METHODS: Between February 2014 and July 2014, a total of 77 children and adolescents (31 girls, 46 boys) who were admitted to the Van Training and Research Hospital were included in the study. The study population was divided into three groups including ADHD (n=34), ASD (n=16), and age- and sex-matched healthy controls (n=27). The diagnosis of ADHD was made on the basis of Diagnostic and Statistical Manual of Mental Disorders - Fifth Edition (DSM-5) and DSM-4 Turkish version with the diagnostic interview and Disruptive Behavior Disorder Rating Scale (DBDRS). The diagnosis of ASD was based on the DSM-4 and DSM-5 Turkish version with the diagnostic interview and the Childhood Autism Rating Scale (CARS). The blood samples were obtained between 8:00 and 9:00 A.M. RESULTS: There was a statistically significant difference in vitamin B12 and D levels and ferritin values among the three groups. The ASD group had the highest ferritin and the lowest vitamins B12 and D levels. Vitamin D levels of the ADHD group were significantly lower compared to the healthy controls. CONCLUSIONS: Our study results highlight the importance of supplementation of vitamins B12 and D in the ASD and ADHD patients.