Canan Altay

Abdominal sarcoidosis: cross-sectional imaging findings

Sarcoidosis is a multisystem inflammatory disease of unknown etiology. The lungs and the lymphoid system are the most commonly involved organs. Extrapulmonary involvement is reported in 30% of patients, and the abdomen is the most common extrapulmonary site with a frequency of 50%-70%. Although intra-abdominal sarcoidosis is usually asymptomatic, its presence may affect the prognosis and treatment options. The lesions are less characteristic and may mimick neoplastic or infectious diseases such as lymphoma, diffuse metastasis, and granulomatous inflammation. The liver and spleen are the most common abdominal sites of involvement. Sarcoidosis of the gastrointestinal system, pancreas, and kidneys are extremely rare. Adenopathy which is most commonly found in the porta hepatis, exudative ascites, and multiple granulomatous nodules studding the peritoneum are the reported manifestations of abdominal sarcoidosis. Since abdominal sarcoidosis is less common and long-standing, unrecognized disease can result in significant morbidity and mortality. Imaging contributes to diagnosis and management of intra-abdominal sarcoidosis. In this report we reviewed the cross-sectional imaging findings of hepatobiliary, gastrointestinal, and genitourinary sarcoidosis.

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey

CONTEXT Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near-total lack of body fat. OBJECTIVE We aimed to study natural history and disease burden of various subtypes of CGL. DESIGN We attempted to ascertain nearly all patients with CGL in Turkey. SETTING This was a nationwide study. PATIENTS OR OTHER PARTICIPANTS Participants included 33 patients (22 families) with CGL and 30 healthy controls. MAIN OUTCOME MEASURE(S) We wanted to ascertain genotypes by sequencing of the known genes. Whole-body magnetic resonance imaging was used to investigate the extent of fat loss. Metabolic abnormalities and end-organ complications were measured on prospective follow-up. RESULTS Analysis of the AGPAT2 gene revealed four previously reported and four novel mutations (CGL1; c.144C>A, c.667_705delinsCTGCG, c.268delC, and c.316+1G>T). Analysis of the BSCL2 gene revealed four different homozygous and one compound heterozygous possible disease-causing mutations (CGL2), including four novel mutations (c.280C>T, c.631delG, c.62A>T, and c.465-468delGACT). Two homozygous PTRF mutations (c.481-482insGTGA and c.259C>T) were identified (CGL4). Patients with CGL1 had preservation of adipose tissue in the palms, soles, scalp, and orbital region, and had relatively lower serum adiponectin levels as compared to CGL2 patients. CGL4 patients had myopathy and other distinct clinical features. All patients developed various metabolic abnormalities associated with insulin resistance. Hepatic involvement was more severe in CGL2. End-organ complications were observed at young ages. Two patients died at age 62 years from cardiovascular events. CONCLUSIONS CGL patients from Turkey had both previously reported and novel mutations of the AGPAT2, BSCL2, and PTRF genes. Our study highlights the early onset of severe metabolic abnormalities and increased risk of end-organ complications in patients with CGL.

Magnetic Resonance Sialography Findings of Submandibular Ducts Imaging

Purpose. We aimed to assess the problem solving capability of magnetic resonance sialography (MR sialography), a noninvasive method for imaging submandibular gland ducts and determining duct-related pathologies, by comparing diseased and healthy cases. Materials and Methods. We conducted radiological assessment on a total of 60 submandibular glands (mean age 44.7) in 20 cases and 10 volunteers. MR sialography examinations were conducted with single-shot fast spin-echo sequence by using a surface coil placed on the submandibular gland. Each gland was evaluated in terms of the length, width and stricture of the main duct, as well as the difference between the intraparenchymal duct width, and the main duct width. Statistical analysis was performed. Results. In the MR sialography the primary duct mean length was determined as 51 mm (40–57 mm) in all submandibular glands. On the MR sialography imaging, the visualization ratio of the ductal system of submandibular gland was evaluated in the cases and volunteers. Conclusion. MR sialography is an effective and a noninvasive method in imaging submandibular gland ducts, demonstrating the presence, location and degree of stricture/dilatation, and elucidating the disease etiology.

Acquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalities

OBJECTIVE Acquired partial lipodystrophy (APL) is a rare disorder characterized by progressive selective fat loss. In previous studies, metabolic abnormalities were reported to be relatively rare in APL, whilst they were quite common in other types of lipodystrophy syndromes. METHODS In this nationwide cohort study, we evaluated 21 Turkish patients with APL who were enrolled in a prospective follow-up protocol. Subjects were investigated for metabolic abnormalities. Fat distribution was assessed by whole body MRI. Hepatic steatosis was evaluated by ultrasound, MRI and MR spectroscopy. Patients with diabetes underwent a mix meal stimulated C-peptide/insulin test to investigate pancreatic beta cell functions. Leptin and adiponectin levels were measured. RESULTS Fifteen individuals (71.4%) had at least one metabolic abnormality. Six patients (28.6%) had diabetes, 12 (57.1%) hypertrigylceridemia, 10 (47.6%) low HDL cholesterol, and 11 (52.4%) hepatic steatosis. Steatohepatitis was further confirmed in 2 patients with liver biopsy. Anti-GAD was negative in all APL patients with diabetes. APL patients with diabetes had lower leptin and adiponectin levels compared to patients with type 2 diabetes and healthy controls. However, contrary to what we observed in patients with congenital generalized lipodystrophy (CGL), we did not detect consistently very low leptin levels in APL patients. The mix meal test suggested that APL patients with diabetes had a significant amount of functional pancreatic beta cells, and their diabetes was apparently associated with insulin resistance. CONCLUSIONS Our results show that APL is associated with increased risk for developing metabolic abnormalities. We suggest that close long-term follow-up is required to identify and manage metabolic abnormalities in APL.

CT and MRI findings of developmental abnormalities and ectopia varieties of the thyroid gland.

Ectopic thyroid tissue may be observed anywhere from the tongue base to the lower neck. It is rarely seen in the mediastinum and abdominal cavity. Computed tomography and magnetic resonance imaging are very sensitive for detection and localization of ectopic thyroid tissue. This pictorial essay presents the radiological characteristics of developmental abnormalities and ectopia varieties of the thyroid gland.

Can primary failure of arteriovenous fistulas be anticipated

Primary failure, early thrombosis, and inadequate maturation are the main complications encountered in arteriovenous fistulas. Doppler ultrasonographic assessment of flow‐mediated dilatation (FMD) is currently used for the early diagnosis of atherosclerosis. Clinical experience in the use of FMD for preoperative assessment of vasculature is rather limited; therefore, we sought to elucidate the relationship between preoperative FMD and primary failure of the fistula. Thirty‐three patients with end‐stage renal disease who were admitted to our hospital between January and July 2005 were included in our study. Medical histories were established and the internal diameter, wall thickness, peak systolic flow rate, and resistive index (RI) were measured in the cephalic vein and radial and brachial arteries. Flow‐mediated dilatation and nitrate‐mediated dilatation (NMD) of the brachial artery were assessed. Fistulas were evaluated 48 hours and 30 days postoperatively. Brachial arterial internal diameter was lower in all fistulas that developed primary failure in 48 hours (0.4 ± 0.07 cm vs. 0.35 ± 0.07 cm, P = 0.016). The radial artery RI was found to be significantly elevated in fistulas with both early (48‐hour) and late‐term (30‐day) failure (0.9 ± 0.08 vs. 0.68 ± 0.3, P = 0.01, and 0.86 ± 0.8 vs. 0.67 ± 0.3, P = 0.038, respectively). The brachial artery peak systolic flow rate was significantly reduced in patients in the radiocephalic fistula group that developed early and late‐term failure (42.9 ± 12 cm/sec vs. 68.4 ± 10 cm/sec, P = 0.01, and 44.1 ± 13 cm/sec vs. 57.7 ± 16 cm/sec, P = 0.038, respectively). Our study, constrained by a smaller, older patient group, was unable to show a statistically significant correlation between FMD, NMD, and fistula success. Any single parameter may not be sufficient to assess vascular health preoperatively. A multifactorial approach incorporating parameters evaluating arterial and venous function might be more effective in predicting fistula success. Further studies on larger patient groups may indeed demonstrate the value of these assessments.

Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy

OBJECTIVE Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by partial lack of subcutaneous fat. METHODS This multicenter prospective observational study included data from 56 subjects with FPLD (18 independent Turkish families). Thirty healthy controls were enrolled for comparison. RESULTS Pathogenic variants of the LMNA gene were determined in nine families. Of those, typical exon 8 codon 482 pathogenic variants were identified in four families. Analysis of the LMNA gene also revealed exon 1 codon 47, exon 5 codon 306, exon 6 codon 349, exon 9 codon 528, and exon 11 codon 582 pathogenic variants. Analysis of the PPARG gene revealed exon 3 p.Y151C pathogenic variant in two families and exon 7 p.H477L pathogenic variant in one family. A non-pathogenic exon 5 p.R215Q variant of the LMNB2 gene was detected in another family. Five other families harbored no mutation in any of the genes sequenced. MRI studies showed slightly different fat distribution patterns among subjects with different point mutations, though it was strikingly different in subjects with LMNA p.R349W pathogenic variant. Subjects with pathogenic variants of the PPARG gene were associated with less prominent fat loss and relatively higher levels of leptin compared to those with pathogenic variants in the LMNA gene. Various metabolic abnormalities associated with insulin resistance were detected in all subjects. End-organ complications were observed. CONCLUSION We have identified various pathogenic variants scattered throughout the LMNA and PPARG genes in Turkish patients with FPLD. Phenotypic heterogeneity is remarkable in patients with LMNA pathogenic variants related to the site of missense mutations. FPLD, caused by pathogenic variants either in LMNA or PPARG is associated with metabolic abnormalities associated with insulin resistance that lead to increased morbidity.

Differentiation between Phyllodes Tumors and Fibroadenomas Based on Mammographic Sonographic and MRI Features.

Background: This study was performed to compare the mammographic, sonographic, and magnetic resonance imaging (MRI) characteristics of phyllodes tumors and fibroadenomas, which may resemble each other. Methods: Preoperative mammograms, B-mode and Doppler sonograms, and dynamic breast MRIs of 72 patients with pathologically proven fibroadenomas and 70 patients with pathologically proven phyllodes tumor were evaluated in this retrospective study. Statistical significance was evaluated using chi-square and Fishers exact tests. Correlations in lesion size among radiological methods were examined by Pearsons correlation analysis. Results: The features that differed on mammogram were size, shape, and margin of the mass. Sonograms showed significant differences in size, shape, margin, echo pattern, and vascularization of the mass. Pearsons correlation analysis showed strong agreement among radiological methods in terms of assessment of size. Tumor size ≥ 3 cm, irregular shape, microlobulated margins, complex internal echo pattern, and hypervascularity were significant findings of phyllodes tumors. Internal cystic areas on MRI were frequently associated with phyllodes tumors. Conclusion: Mammographic, sonographic, and MRI findings of fibroadenomas and phyllodes tumors could help radiologists to ascertain imaging-histological concordance and guide clinicians in their decision making regarding adequate follow-up or the necessity of biopsy.

Computed tomography findings of an unusual maxillary sinus mass: brown tumor due to tertiary hyperparathyroidism.

Brown tumor is a non-neoplastic bone lesion that develops secondary to hyperparathyroidism and it is very rare in the maxillofacial region. We report the case of a 59-year-old man who presented with pain and a swelling in the left cheek. Computed tomography (CT) demonstrated an expansile and radioluscent lesion in the left maxillary sinus. Incisional biopsy was performed, and the diagnosis was Brown tumor. Brown tumor must be considered in the differential diagnosis of expansile lesions of maxillary sinus.

Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -γ (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations.

To describe the phenotype associated with a novel heterozygous missense PPARG mutation discovered in a Turkish family and to compare the fat distribution and metabolic characteristics of subjects with the peroxisome proliferator activator receptor ‐γ (PPARG) mutation with those of a cluster of patients with familial partial lipodystrophy with classic codon 482 Lamin A/C (LMNA) mutations.