TRPV6 gene mutation associated with giant pancreatic pseudocyst with mediastinal extension in a pediatric patient: Lessons learned.

Pancreatic pseudocyst is a common complication secondary to acute or chronic pancreatitis. The extension of a pseudocyst into the mediastinum is extremely rare, with notably few reported cases in the pediatric age group found in the literature. This report presents a giant pancreatic pseudocyst with mediastinal extension that developed secondary to TRPV6 gene mutation in a 12-year-old male patient with no previously known disease and normal laboratory values.

Investigation of the effects of Gamma Knife radiosurgery on optic pathways using diffusion tensor MRI within the first year after treatment.

Purpose: To investigate the radiation-induced effects of Gamma Knife radiosurgery (GKRS) for sellar-parasellar tumors on optic pathways using DTI parameters within the first year after treatment.

Methods: Twenty-five patients with sellar-parasellar tumors underwent MRI before and 3 months after GKRS, including T1WI, DTI, T2WI. Moreover, 21 patients underwent follow-up DTI 6-8 months after radiosurgery.

Efficacy of radiological depth of invasion measurements on magnetic resonance images acquired at different magnetic field strengths and imaging sequences in predicting cervical lymph node metastasis and other outcomes in tongue cancer.

Objectives: We investigated the correlation between magnetic resonance imaging (MRI) parameters and tumor pathological depth of invasion (pDOI), between pDOI and radiological DOI (rDOI), between rDOI and duration between biopsy and MRI, and between rDOI and duration between MRI and surgery to determine the efficacy of rDOI in identifying small lesions and other conditions.

Study Design: We examined 36 adult patients who had been diagnosed histopathologically with cancer of the tongue and had undergone a glossectomy. Using 1.

Assessment of lacrimal gland involvement in primary Sjögren's syndrome using gray-scale ultrasonography and shear wave elastography.

Objectives: The aim of this study was to assess lacrimal gland involvement in primary Sjögren's syndrome (pSS) using lacrimal gland gray-scale ultrasound (LGUS) and two-dimensional shear wave elastography (2D-SWE).

Methods: Eighty-five pSS patients with a mean age of 51.16 ± 10.

Three Different Faces of Schwannoma in Pediatric Patients.

Background: Schwannomas arise from nerve sheaths of cranial, peripheral, and spinal nerve or nerve roots. Most intracranial schwannomas arise from the cranial nerves, predominantly the vestibulocochlear nerve. In addition to cranial nerve schwannomas, intraparenchymal schwannomas of the brain and intramedullary schwannomas of the spinal cord are extremely rare.

Fetal Orbital Epidermal Cyst Pre-postnatal Imaging Findings: A Case Report and Literature Review.

Background: Fetal ultrasonographic evaluation is a routine part of pregnancy follow-up, and examination of orbital structures is also part of the routine evaluation. Although orbital developmental anomalies are common in the neonatal period, diagnosis in the intrauterine period is not common. To our knowledge, three cases with a diagnosis of congenital orbital epidermal cysts have been reported in the literature, and two of them had fetal imaging findings.

Diagnostic performance of gray-scale ultrasound and shear wave elastography in assessing salivary gland involvement in patients with primary Sjögren's syndrome.

Purpose: To investigate the diagnostic performance of gray-scale ultrasound (US) and shear wave elastography (SWE) for determining salivary gland involvement primary Sjögren's syndrome (pSS).

Methods: In this prospective study, the salivary glands of 72 healthy volunteers and 74 participants with pSS were examined by two blinded radiologists with consensus using gray-scale US and SWE. SWE parameters were compared between groups.

A rare MRI finding of NF-1: perineural arachnoidal gliomatosis.

Optic pathway gliomas are the most common central nervous system neoplasms in patients with neurofibromatosis type 1. Perineural arachnoidal gliomatosis is a rare and distinctive growth pattern of optic nerve glioma, in which the tumor infiltrates through the pia mater and pre-dominantly involves the subarachnoid space around the optic nerve. Here, we report an 8-year-old girl with perineural arachnoidal gliomatosis associated with neurofibromatosis type 1.

Dynamic contrast-enhanced magnetic resonance imaging for evaluating early response to radiosurgery in patients with vestibular schwannoma.

Purpose: This study aimed to use dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) to evaluate early treatment response in vestibular schwannoma (VS) patients after radiosurgery.

Methods: Twenty-four VS patients who underwent gamma knife radiosurgery were prospectively followed up for at least four years. DCE-MRI sequences, in addition to standard MRI protocol, were obtained prior to radiosurgery, at 3 and 6 months.

Determination of Myocardial Scar Tissue in Coronary Slow Flow Phenomenon and The Relationship Between Amount of Scar Tissue and Nt-ProBNP.

Background: Pathophysiology and prognosis are not clearly determined in patients with the coronary slow flow phenomenon (CSFP). These patients present with various clinical conditions ranging from being asymptomatic to being admitted with sudden cardiac death.

Objectives: We aimed at assessing the findings of late gadolinium enhancement (LGE) in cardiac magnetic resonance imaging (CMR) as an indicator of myocardial fibrosis.

Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

The extensive usage of next generation sequencing, particularly for the patients affected with neurodevelopmental disorders, has increased our understanding and enabled identifying novel disorder genes. Here, we report an extended consanguineous family having at least three affected children with ACTL6B-related neurodevelopmental disorder and expand the known phenotypic spectrum by characterizing the clinical findings using a standardized vocabulary, Human Phenotype Ontology Terms.

Assessment of Endothelial Dysfunction With Flow-Mediated Dilatation in Myeloproliferative Disorders.

Background: Thrombosis is the most important cardiovascular complication of classical myeloproliferative disorders (MPDs). Endothelial dysfunction (ED) is known to play a major role in the mechanism of thrombophilia in MPDs.

Methods: Endothelial dysfunction and its associations with other parameters were investigated.