Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in CEP19 Gene.

Introduction: Early-onset severe obesity is usually the result of an underlying genetic disorder, and several genes have recently been shown to cause syndromic and nonsyndromic forms of obesity. The "centrosomal protein 19 (CEP19)" gene encodes for a centrosomal and ciliary protein. Homozygous variants in the CEP19 gene are extremely rare causes of early-onset severe monogenic obesity. Herein, we present a Turkish family with early-onset severe obesity with variable features. Methods: Sanger sequencing and whole-exome sequencing were performed to identify the genetic etiology in the family. Results: The index case was a 12-year-old female who presented with severe obesity (BMI of 62.7 kg/m2), metabolic syndrome, and diabetic ketoacidosis. Her nonidentical twin female siblings also had early-onset severe obesity, metabolic syndrome, and diabetes. In addition, one of the affected siblings had situs inversus abdominalis, polysplenia, lumbar vertebral fusion, and abnormal lateralization. A novel homozygous nonsense (c.169C>T, p. Arg57*) pathogenic variant was detected in exon 3 of the CEP19 gene in all affected members of the family. One unaffected sister and unaffected parents were heterozygous for the variant. This variant is predicted to cause a stop codon at amino acid sequence 57, leading to a truncated CEP19 protein. Discussion/Conclusion: Our study expands the phenotypical manifestations and variation database of CEP19 variants. The findings in one of our patients reaffirm its role in the assembly and function of both motile and immotile cilia.

The value of dual-energy computed tomography in the evaluation of myocarditis

PURPOSE: The inflammation of the heart muscle is referred to as acute myocarditis. Cardiac magnetic resonance imaging (CMR) has become the primary method for a non-invasive assessment of myocardial inflammation. However, there are several drawbacks of CMR. During the last decade, dual energy computed tomography (DECT) has been used in cardiac imaging. The current study aims to assess the efficacy and feasibility of DECT in acute myocarditis and compare the results to CMR. METHODS: This prospective study included patients who had myocarditis but no coronary artery pathology. Two observers evaluated the patients for acute myocarditis using DECT and CMR. CMR was performed on 22 patients within 24 hours of DECT, which was administered within 12 hours following the onset of chest pain. Inter-observer agreement was tested with Cohen's Kappa coefficient, and Spearman's correlation was used to examine the possible correlations. A P value of <0.050 was accepted as statistically significant. RESULTS: The DECT and CMR agreement was significant for transmural diagnoses, excellent for subepicardial and intramyocardial diagnoses, and perfect for nodular and band-like patterns. CONCLUSION: The findings of this study showed that the dark areas on the color-coded iodine map created with DECT were strongly correlated with CMR in acute cases of myocarditis. In addition, DECT is a robust imaging method that can also be used in the diagnosis of acute myocarditis. Furthermore, it provides information about coronary arteries faster and more reliably than magnetic resonance imaging without any limitations.

Comparison of the Efficacy of Systemic Versus Local Steroid Treatment in Idiopathic Granulomatous Mastitis: A Cohort Study.

INTRODUCTION: Steroid therapy is known to be effective against granulomatous mastitis. We aimed to compare the efficacy of local versus systemic steroid administration in patients with idiopathic granulomatous mastitis. MATERIALS AND METHODS: This prospective cohort study included 58 patients who had either local (n = 42) or systemic (n = 16) treatment due to granulomatous mastitis between 2015 and 2019. Recurrence rates were determined as per ultrasound and magnetic resonance imaging examinations and the rate of side effects was evaluated as per patient complaints and physical examinations at the end of a 2-year follow-up period. RESULTS: Median doses of 140 mg and 3810 mg were administered to the local and systemic group, respectively. Six (14.3%) patients in the local treatment group and 13 (81.3%) in the systemic treatment group had steroid-related side effects. The local treatment group had significantly fewer side effects than the systemic treatment group (P < 0.001). The recurrence rates were similar in both groups (P > 0.05). CONCLUSIONS: Local steroid injection was as effective as systemic steroid therapy. Compared to systemic therapy, local steroid administration can be considered as a new therapeutic protocol with a lower dose and side effect rate.

Mirror aneurysms of extracranial internal carotid arteries in a patient with beta-thalassemia major.

Beta-thalassemia major is a chronic disorder characterised by severe anemia. This patient with beta-thalassemia major is the first magnetic resonance (MR) angiographic case for symmetric mirror aneurysms of the extracranial internal carotid arteries. For diagnosis of vascular complications requires angiographic procedures such as catheter angiography, computed tomography angiography, MR angiography, or Doppler ultrasonography. Time-of-flight MR angiography is a non-invasive useful technique in diagnosis of the aneurysmatic patients.

MR arthrographic evaluation of posterior paraglenoid labral cysts: a retrospective study.

BACKGROUND: Paraglenoid labral cysts (PLCs) around the shoulder are uncommon. Magnetic resonance imaging (MRI) is the primary imaging modality for the description of PLCs. PURPOSE: The purpose of this study was to evaluate PLCs in the posterior part of the glenoid bone via MR arthrography as well as to describe associated labral abnormalities. MATERIAL AND METHODS: This retrospective study included 14 patients, diagnosed with 15 posterior PLCs at MR arthrography between 2007 and 2012. Conventional MRI and MR arthrography were used for all patients. RESULTS: A total of 15 PLCs were detected in 14 patients with eight located on the right shoulder and six on the left shoulder. One case had two PLCs. While two cysts were multiloculated, the remaining 13 were seen as unilocated simple cysts. Moreover, 14 of 15 posterior PLCs (60%) were associated with labral tears at MR arthrography. The cysts in proximity to the glenoid labrum were posterosuperior in 33.3% (n = 5), mid-posterior in 36.7% (n = 7), and postero-inferior in 20% (n = 3). The majority of patients with posterosuperior and mid-posterior cysts had an associated superior labral tear from anterior to posterior (SLAP) lesions. Four of six patients with mid-posterior cysts had minimal denervation atrophy in the infraspinatus muscle. CONCLUSION: Posterior PLCs are mostly associated with posterior labral defects. The majority of cysts localized in the posterosuperior and mid-posterior were also associated with SLAP lesions. Denervation atrophy in the infraspinatus muscle may frequently accompany mid-posterior PLCs.

Anomalous Origins of Ophthalmic Arteries on Three-Dimensional Time-of-Flight Magnetic Resonance Angiography and Their Clinical Importance.

AIM: The purpose of this paper was to evaluate rare cases of anomalous origins of the ophthalmic artery (OA) according to magnetic resonance angiography (MRA) findings. METHODS: This retrospective study included 80 patients diagnosed with anomalous OA origins between March 2015 and July 2018 from a sample of 16,024 patients. The patients included 47 females and 33 males with a mean age of 38.16 years (range 18-62 years). Three-dimensional time-of-flight (3D-TOF) MRA was performed for all patients. RESULTS: Eighty (0.5%) patients had anomalous OA origins. The most common type of OA origin anomaly was the right OA originating from the middle meningeal artery (0.17%). Twelve (0.07%) patients had OAs with an extradural origin. CONCLUSIONS: Anomalous origins of the OA are rare. 3D-TOF MRA is a noninvasive imaging method that can be applied for the diagnosis of OA anomalies. Some OA variations can have a protective effect against ocular complications in vaso-occlusive events. Therefore, it is critical to know the variant anatomy of OAs.

Evaluation of giant arachnoid granulations with high-resolution 3D-volumetric MR sequences at 3T.

PURPOSE: To evaluate the contribution to the diagnosis of the giant arachnoid granulations (AGs) of three-dimensional (3D) high-resolution magnetic resonance (MR) imaging sequences such as T2-weighted sampling perfection with application optimized contrasts using different flip-angle evolution (SPACE) and post-contrast T1-weighted magnetization prepared rapid gradient echo (MPRAGE). MATERIALS AND METHODS: Patients with 45 giant AGs were included in this retrospective study. All the patients were performed 3D T2-weighted SPACE and contrast enhanced MR venography sequences, as well as conventional cerebral MR imaging sequences. Post-contrast T1 weighted MPRAGE sequence were performed on 38/45 patients. All cerebral MR examinations were reviewed by the 2 neuroradiologists. Each GA was evaluated carefully to assess location and mean diameter. RESULTS: The most common location for giant AGs was at both transverse sinuses. Fluid signal feature within the giant AGs was not isointense to CSF on SE T1 and FLAIR MR imaging in 32 of 45 giant AGs. There were cerebral herniation into AG in 10 (22.2 %) of 45 giant AGs. 33 (73.3 %) of 45 giant AGs had central vein finding into AG in contrast enhanced MR venography. Signal void phenomenon into AG in 3D T2-weighted SPACE MR sequence was identified in 28 (62.2 %) of 45 giant AGs. CONCLUSIONS: Fluid within giant AGs had no completely CSF-like signal intensity on conventional and 3D high-resolution MR imaging sequences. Majority of CSF-incongruent fluid within giant AGs on conventional sequences is mostly due to intra-AG CSF flow.

Multiple Pulmonary and Hepatic Arteriovenous Malformations in a Patient With Rendu-Osler-Weber Disease / Malformaciones arteriovenosas pulmonares y hepáticas múltiples en un paciente con enfermedad de Rendu-Osler-Webe

No disponible

The Value of Superb Microvascular Imaging in Detecting Hepatic Artery Occlusion in Liver Transplantation: A Preliminary Study.

Superb microvascular imaging (SMI) is an innovative color Doppler technique that is used to evaluate low-velocity blood flow in particular. Our purpose in this study was to examine the sensitivity and specificity of SMI for assessing occlusion of the hepatic artery after liver transplantation. Ninety-five prospective patients who underwent liver transplantation were included in our study between April 2014 and February 2018. The patients were assessed with color power Doppler sonography and SMI method examinations in this study. Those who were suspected of having hepatic artery occlusion were assessed with computed tomography angiography. Computed tomography angiography was used in all the patients who were suspected of having occlusion of the hepatic artery on power Doppler and SMI method. The hepatic artery was considered to be patent and have normal flow on color Doppler examination in 72 (75.7%) of the total 95 patients. The hepatic artery was not observed in 23 (24.2%) of the patients with color Doppler sonography. In 3 of those 23 patients, arterial flow was detected with power Doppler sonography (31%). The sensitivity of SMI for the detection of hepatic artery occlusion was 100%, the specificity was 97.87%, the positive predictive value was 33.33%, and the negative predictive value was 100%. Thus, SMI is a noninvasive technique that is easy to use and has high sensitivity in patients who have undergone liver transplantation. In patients who are suspected of having hepatic artery occlusion with Doppler ultrasound, SMI can detect hepatic artery occlusion without the need for invasive techniques.

Diagnostic efficiency of multidetector computed tomography with multiplanar reformatted imaging and virtual cystoscopy in the assessment of bladder tumors after transurethral resection.

PURPOSE: In the assessment of recurrent bladder tumors, diagnostic efficiency of virtual cystoscopy carried out by multidetector computed tomography (MDCT) was investigated and compared with the criterion standard of conventional cystoscopy. MATERIALS AND METHODS: Twenty-seven patients between 39 and 83 years who had undergone transurethral resection because of bladder tumors were assessed using virtual and conventional cystoscopy. Virtual cystoscopy was performed using a 16-MDCT (Aquilion, Toshiba Medical Systems, Tokyo, Japan) in the supine and prone positions. After axial scanning, the 2-dimensional axial images were assessed, followed by coronal and sagittal multiplanar reconstruction of the images. In addition, virtual cystoscopy and cystographic investigations were performed using software in which volume-rendering technical algorithms shaded the surface display. In the images obtained, the existence and localization of lesions, morphological features, environment invasions, involvement of lymph nodes, and, if any, metastases of abdomen were assessed. RESULTS: For bladder pathologies, the sensitivity and specificity of CT cystography coupled with virtual cystoscopy were 91% and 92%, respectively. The percentage of correct diagnoses using CT cystography was 92%. In addition to bladder pathologies, we investigated liver metastases, kidney cysts, fluid in abdomen, and lymphadenopathies. CONCLUSIONS: Using MDCT with virtual cystoscopy to assess primary bladder tumors and, in particular, to determine tumor recurrence after transurethral resection is a minimally invasive method that can be used in the long-term follow-up care of patients.

Computed tomography findings in diseases of the adrenal gland.

The adrenal gland is a common site of disease, with an abnormality prevalence as high as 9% in autopsy series. With the increasing use of CT, adrenal lesions are frequently found in the daily practice of radiology and are diagnosed in up to 5% of CT examinations performed for varied reasons. Imaging features on CT can establish a specific diagnosis of many of these lesions, including myelolipoma, hematoma and cysts. Once a diagnostic dilemma, now adenomas can be accurately diagnosed using unenhanced CT, chemical shift magnetic resonance imaging and CT contrast washout analysis. Because the adrenal gland is also a frequent site of metastasis, recent literature has focused on imaging characterization of adrenal masses for differentiation of adenomas from metastases. In patients without known malignancy, most adrenal lesions are benign and a specific diagnosis can now be made on the basis of imaging features. It is important to understand the prevalence of adrenal abnormalities because the gland is a common site of disorders, and the increased use of cross-sectional imaging has increased the frequency of detection of adrenal lesions. The prevalence of disease is important in predicting the risk of malignancy when an adrenal mass is discovered in a patient without known cancer. Detection of adrenal gland diseases has increased substantially with the advent and widespread use of imaging techniques. Although several imaging modalities can be used, CT has a central role in both detection and differential diagnosis of an adrenal lesion. The aim of this article is to review the CT findings of adrenal gland diseases.