Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.

Background: Heterozygous TRPV4 mutations cause a group of skeletal dysplasias characterized by short stature, short trunk, and skeletal deformities.

Objective: The aim of this study is to compare the natural history of clinical and radiologic features of patients with different TRPV4-related skeletal dysplasias.

Materials And Methods: Thirteen patients with a mutation in TRPV4 were included in the study, and 11 were followed for a median of 6.

Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease.

Introduction: In the pediatric context, most children with autosomal dominant polycystic kidney disease (ADPKD) maintain a normal glomerular filtration rate (GFR) despite underlying structural kidney damage, highlighting the critical need for early intervention and predictive markers. Due to the inverse relationship between kidney volume and kidney function, risk assessments have been presented on the basis of kidney volume. The aim of this study was to use magnetic resonance imaging (MRI)-based kidney volume assessment for risk stratification in pediatric ADPKD and to investigate clinical and genetic differences among risk groups.

Children With Type 1 Spinal Muscular Atrophy Are at Increased Risk for Nephrolithiasis.

Background: Nephrolithiasis is not a well-documented condition in children with spinal muscular atrophy (SMA). It is possible that this condition was underestimated before the era of nusinersen because of a much shorter life expectancy. We present our observational data on nephrolithiasis and its possible risk factors in children with type 1 SMA.

Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.

Objective: Hereditary multiple osteochondromas is an autosomal dominant disorder caused by heterozygous pathogenic variants in EXT1 or EXT2. We aimed to evaluate the clinical and molecular findings of a Turkish cohort with hereditary multiple osteochondroma.

Materials And Methods: Thirty-two patients aged 1.

Biallelic frameshift variants in cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes.

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders characterised by susceptibility to fractures, primarily due to defects in type 1 collagen. The aim of this study is to present a novel OI phenotype and its causative candidate gene.

Methods: Whole-exome sequencing and clinical evaluation were performed in five patients from two unrelated families.

Endoscopic septum division of tubular esophageal duplication in two children and systematic review.

Tubular esophageal duplication is a rare congenital malformation The surgical treatment of this lesion can be challenging. We aimed to present our experience in two cases with tubular esophageal duplication. Both cases were endoscopically treated by a dual knife.

Increased risk for kidney sequelae surrogates in survivors of Wilms tumor.

Background: There is evidence of increased risk of hypertension, albuminuria, and development of chronic kidney disease (CKD) in long-term follow-up of survivors of Wilms tumor (WT). However, most studies were conducted in heterogeneous groups, including patients with solitary kidney. In addition, little is known about tubular dysfunction.

Focusing on Asthma and Chronic Obstructive Pulmonary Disease with COVID-19.

Introduction: We aimed to evaluate clinical and laboratory findings of hospitalized asthma and chronic obstructive pulmonary disease (COPD) patients with COVID-19 and demonstrate that they have different symptoms and/or laboratory results and outcomes than COVID-19 patients with comorbidity (CoV-com) and without comorbidity (CoV-alone).

Methodology: The data of the demographic, clinical, laboratory findings of hospitalized CoV-alone, asthma, COPD patients with COVID-19 (CoV-asthma, CoV-COPD, respectively), and CoV-com were analyzed.

Results: Out of 1082 patients hospitalized for COVID-19, 585 (54.

Transient minimal hydronephrosis on contralateral kidney in infants with unilateral hydronephrosis: Is it an early sign of worsening of the affected kidney?

Background/aim: The criteria for surgical management of ureteropelvic junction obstruction are not well-defined, and there is a risk for loss of renal function before the operation. In this context, certain changes in contralateral kidney had been investigated in order to increase the sensitivity of diagnosis. In this study, we aimed to investigate whether contralateral transient minimal hydronephrosis (CTMH) can be considered as an “early alarm” sign for worsening of the affected kidney in infants with hydronephrosis.

Urinary Ultrasound and Other Imaging for Ureteropelvic Junction Type Hydronephrosis (UPJHN).

Ultrasound is the main imaging study used to diagnose ureteropelvic junction (UPJ) obstruction. On ultrasound, abnormal dilatation of the pelvicalyceal system of varying degrees is seen, whereas the ureter is normal in caliber. A properly performed study provides essential information regarding laterality, renal size, thickness, and architecture of the renal cortex and degree of dilatation of the pelvicalyceal system.

A homozygous HOXA11 variation as a potential novel cause of autosomal recessive congenital anomalies of the kidney and urinary tract.

Congenital anomalies of the kidney and urinary tract (CAKUT) is the leading cause of end-stage kidney disease in children. Until now, more than 50 monogenic causes for CAKUT have been described, all of which only explain 10% to 20% of all patients with CAKUT, suggesting the presence of additional genes that cause CAKUT when mutated. Herein, we report two siblings of a consanguineous family with CAKUT, both of which rapidly progressed to chronic kidney disease in early childhood.

Bilateral Synchronous Testicular Germ Cell Tumors in Children: Case Report and Review of the Literature.

Bilateral testicular tumors are very rare in pediatric patients and only a few case reports have been reported. These patients have a high risk of sterility due to bilateral orchiectomy and subsequent gonadotoxic treatments. Therefore, if possible, testis-sparing surgery should be performed in patients with benign masses and testicular tissue preservation may be recommended in order to maintain fertility in later life.

Comparison of the efficacy of physical examination and radiological imaging in detecting sacroiliitis in patients with juvenile spondyloarthropathies.

Objectives: To determine and compare the effectiveness of history, physical examination, conventional radiography and magnetic resonance imaging (MRI) in the detection of sacroiliitis in juvenile spondyloarthropathies.

Methods: One hundred and one patients with JSpA, 33 patients with other diseases and 24 children without rheumatologic complaints were included in the study. Subjects were evaluated using physical examination, laboratory findings, pelvic radiography and MRI.

A novel combined treatment for plasminogen deficiency with lung involvement.

Plasminogen deficiency is characterized by fibrin-rich pseudomembrane formation on all mucosal surfaces, particularly the conjunctiva. Respiratory system involvement is common; fibrin often obstructs the upper or lower respiratory tract, causing death. Although many treatments have been applied, no definitive treatment (especially of the respiratory involvement) yet exists.

Adrenal masses in children: Imaging, surgical treatment and outcome.

Background/objective: This study aims to evaluate the current surgical approach to adrenal masses in the pediatric age group.

Methods: We retrospectively analyzed cases that underwent surgery for adrenal masses between 2007 and 2017. Patients were assessed regarding age, sex, primary diagnosis, image defined risk factors (IDRF), surgical treatment method, complications, duration of hospital stay, and follow-up.

Quantitative Assessment of Thyroid, Submandibular, and Parotid Glands Elasticity With Shear-Wave Elastography in Children.

Tissue elasticity is becoming a more commonly used parameter in evaluation of parenchyma in inflammatory diseases. Considering the changes in the thyroid and salivary glands with adolescence, determination of mean elasticity ranges with a function of age is necessary to apply ultrasound elastography more widely in the pediatric population.The thyroid, submandibular, and parotid glands of 127 healthy volunteers (66 males, 61 females; mean age = 10.

Sinusoidal Obstruction Syndrome During Chemotherapy of Pediatric Cancers and its Successful Management With Defibrotide.

Sinusoidal obstruction syndrome (SOS) is a life-threatening complication generally occurring after hematopoietic stem cell transplantation. SOS after standard dose chemotherapy in malignancies is rare. Between the year 1995 and 2016, 414 patients were diagnosed with acute lymphoblastic leukemia and 113 patients were diagnosed with Wilms tumor in our institution.

Primary pericardial synovial sarcoma in an adolescent patient: magnetic resonance and diffusion-weighted imaging features.

Primary synovial sarcomas of the pericardium are extremely rare tumors, especially in pediatric population. As far as we know, only few cases have been reported in the literature. This uncommon location for synovial sarcomas could lead to misdiagnosis.

The impact of share wave elastography in differentiation of hepatic hemangioma from malignant liver tumors in pediatric population.

Objective: In children it is crucial to differentiate malignant liver tumors from the most common benign tumor, hepatic hemangiomas since the treatment strategies are quite different. We aimed to evaluate the efficiency of shear wave elastography (SWE) technique in differentiation of malignant hepatic tumors and hepatic hemangiomas.

Methods: Twenty patients with hepatic tumor were included in our study.

Nephrocalcinosis as a complication of subcutaneous fat necrosis of the newborn.

Subcutaneous fat necrosis of the newborn is an uncommon disorder affecting the adipose tissue of term infants. It is usually known as a transient, benign and self-limited disease, characterized by painful skin lesions beginning within the first week of life. The prognosis of the disease is generally good, but it may be complicated by potentially life-threatening metabolic alterations, including hypercalcemia, thrombocytopenia, hypoglycemia, and hypertriglyceridemia.

Treatment of pediatric Burkitt lymphoma in Turkey.

This study aimed to assess the demographic data and treatment results of children who were diagnosed with Burkitt lymphoma and treated according to the Berlin-Frankfurt-Münster-95 (BFM) protocol in a single institution. A total of 48 patients (37 boys, 77%) with a median age of 8 years (range 2 to 16 years) at diagnosis, were evaluated. Primary tumor sites were abdomen (70.

Pelvic MRI findings of juvenile-onset ankylosing spondylitis.

Ankylosing spondylitis (AS) is the most common clinical subgroup of sero-negative spondyloarthropathies. Radiographic and clinical signs of bilateral inflammatory involvement of sacroiliac joints are the gold standard for the diagnosis of juvenile AS. Although radiographic evidence of sacroiliitis is included in the definition, it is not mandatory for the diagnosis of juvenile AS.