Carboxyl-ester lipase (CEL) maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes and pancreatic exocrine dysfunction due to mutations in the CEL gene encoding CEL. The pathogenic mechanism for diabetes development is unknown. Since CEL is expressed mainly in pancreatic acinar cells, we asked whether we could find structural pancreatic changes in CEL-MODY subjects during the course of diabetes development. Furthermore, we hypothesized that the diseased pancreas releases proteins that are detectable in pancreatic fluid and potentially reflect activation or inactivation of disease-specific pathways. We therefore investigated nondiabetic and diabetic CEL-mutation carriers by pancreatic imaging studies and secretin-stimulated duodenal juice sampling. The secretin-stimulated duodenal juice was studied using cytokine assays, mass spectrometry (MS) proteomics, and multiplexed MS-based measurement of kinase activities. We identified multiple pancreatic cysts in all eight diabetic mutation carriers but not in any of the four nondiabetic mutation carriers or the six healthy controls. Furthermore, we identified upregulated mitogen-activated protein kinase (MAPK) target proteins and MAPK-driven cytokines and increased MAPK activity in the secretin-stimulated duodenal juice. These findings show that subjects with CEL-MODY develop multiple pancreatic cysts by the time they develop diabetes and that upregulated MAPK signaling in the pancreatic secretome may reflect the pathophysiological development of pancreatic cysts and diabetes.
Imaging and pathology findings are used to analyze the capability of computed tomography (CT) to distinguish between acute appendicitis and radiological mimickers.
Materials and Methods:
A retrospective review of 5861 patients undergoing abdominopelvic CT from 2000 to 2008 for suspicion of acute appendicitis was performed. Appendix diameter, surrounding inflammation, appendicolith, and location were assessed. Only those cases were included where patients underwent surgery for acute appendicitis on CT findings. Pathology specimens were examined and those indicative of acute appendicitis were identified. Statistical analysis was performed to correlate pathology and CT signs.
A total of 969 of the 5681 patients were included in the study. Acute appendicitis was verified in 870/969 (89%) cases, while 99/969 (11%) demonstrated either chronic findings (i.e., fibrosis [32%], granulomatous disease [16%], lymphoid hyperplasia [11%]) or no abnormality. In regression models, appendiceal diameter >7 mm (odds ratio [OR] = 3.98, P < 0.0001) and mesenteric fat stranding (OR = 6.04, P < 0.0001) were associated with acute appendicitis. Nearly 87% (754/870) of acute appendicitis cases showed both signs on CT, compared with 53% (52/99) of those with other pathologic finding (P < 0.0001). In cases with non-appendicitis findings, 39% (39/99) had only one of these signs compared with 13% (112/870) of those with acute appendicitis (P < 0.0001).
Diseases of the appendix other than acute appendicitis may manifest with isolated radiological findings and should be considered as part of the differential diagnosis in cases of borderline acute appendicitis.
Abdominal radiology; appendicitis; computed tomography
The nuclear hormone receptor estrogen receptor α (ERα) mediates the actions of estrogens in target cells and is a master regulator of the gene expression and proliferative programs of breast cancer cells. The presence of ERα in breast cancer cells is crucial for the effectiveness of endocrine therapies, and its loss is a hallmark of endocrine-insensitive breast tumors. However, the molecular mechanisms underlying the regulation of the cellular levels of ERα are not fully understood. Our findings reveal a unique cellular pathway involving the p38 mitogen-activated protein kinase (p38MAPK)-mediated phosphorylation of ERα at Ser-294 that specifies its turnover by the SCFSkp2 proteasome complex. Consistently, we observed an inverse relationship between ERα and Skp2 or active p38MAPK in breast cancer cell lines and human tumors. ERα regulation by Skp2 was cell cycle stage dependent and critical for promoting the mitogenic effects of estradiol via ERα. Interestingly, by the knockdown of Skp2 or the inhibition of p38MAPK, we restored functional ERα protein levels and the control of gene expression and proliferation by estrogen and antiestrogen in ERα-negative breast cancer cells. Our findings highlight a novel pathway with therapeutic potential for restoring ERα and the responsiveness to endocrine therapy in some endocrine-insensitive ERα-negative breast cancers.
Struma ovarii is an uncommon condition, in which thyroid tissue is the predominant or exclusive element in an ovarian teratoma. Thyroid tissue may demonstrate the same spectrum of pathological features as in the normal thyroid including benign and malignant changes. We present a case of papillary thyroid carcinoma arising in a struma ovarii of the left ovary in a 21-year-old female.
Dermoid cyst; mature cystic teratoma; papillary carcinoma; struma ovarii; ultrasound
Diagnostic imaging plays an important role in the assessment of patients with mechanical cardiac assist devices. Therefore, it is important for radiologists to be familiar with the basic components, function, and radiographic appearances of these devices in order to appropriately diagnose complications. The purpose of this pictorial essay is to review indications, components, normal imaging appearances, and complications of surgically and percutaneously implanted ventricular assist devices, intra-aortic balloon pumps, and cardiac meshes.
Cardiac mesh; Impella; imaging; intra-aortic balloon pump; ventricular assist device
Traumatic ectopic dislocation of testis is a rare occurrence and usually occurs following a motorcycle collision, in what is referred to as “fuel tank injury”. Early identification and subsequent surgical management is of utmost importance to maintain normal spermatogenesis in the dislocated testis. In appropriate clinical setting, scrotal ultrasound examination with gray-scale and color flow Doppler imaging is the method of choice for diagnosis. Computed tomography of the abdomen is a useful adjunct procedure. We report a case of traumatic testicular dislocation with partial testicular torsion following a motorcycle collision, diagnosed with imaging, and subsequently confirmed on surgery.
Ectopic testis; fuel tank injury; traumatic dislocation of testis
Collision tumor is a rare condition in which two neoplasms (usually benign and malignant), both growing in the same general area, collide with each other and become intermingled. We present histopathology and imaging correlation of xanthogranulomatous pyelonephritis coexistent with squamous cell carcinoma and osteogenic sarcoma of the kidney.
Computed tomography; kidney; MAG3; neoplasms; osteogenic sarcoma; squamous cell carcinoma; xanthogranulomatous pyelonephritis
Hepatic hydrothorax secondary to transdiaphragmatic spread of peritoneal fluid can cause respiratory discomfort to the patient. Draining of hydrothorax helps relieve these symptoms. Pleurovenous shunt (Denver shunt) is a relatively non-invasive method of shunting the pleural fluid to the central venous system. Reported complications of pleurovenous shunts are shunt failure, pulmonary edema, post shunt coagulopathy, deep vein thrombosis, and infection. We report a rare case of a leak at the venous end of the catheter that was placed within the right internal jugular vein, resulting in a large collection in the neck.
Denver shunt; hepatic hydrothorax; peritoneovenous shunt; pleurovenous shunt
Median arcuate ligament (MAL) syndrome is a controversial condition characterized by compression of the celiac trunk and symptoms of intestinal angina. We present a case of MAL compressing the celiomesenteric trunk, a rare variation. We report computed tomography (CT) angiography and three-dimensional reconstructions of this rare phenomenon.
Celiomesenteric trunk; CT angiography; median arcuate ligament
Post-cholecystectomy syndrome (PCS) is a common manifestation in patients with cholecystectomy. The patients exhibit a heterogeneous group of symptoms, such as upper abdominal pain, vomiting, gastrointestinal disorders, jaundice, and dyspepsia. Choledocholithiasis, biliary dyskinesia, and dilation of cystic duct remnants are common causes of these symptoms. The symptoms can recur after a symptom-free period following cholecystectomy or they can persist after surgery. Ultrasonography, computed tomography (CT), and magnetic resonance imaging scan, which are non-invasive methods of imaging, have a high sensitivity in detecting the causes of PCS. We report a case of an 84-year-old lady who came to the Ultrasound Department with recurrent episodes of abdominal pain following cholecystectomy. The gray-scale sonography showed a dilated cystic structure, which was confirmed as the duct remnant in follow-up contrast-enhanced CT.
Biliary dyskinesia; choledocholithiasis; cystic duct remnant; post-cholecystectomy syndrome
Testicular epidermoid cysts are the most common benign tumors of the testes, but account for only 1-2% of all testicular tumors. In a young man presenting with a testicular mass, a high index of suspicion must be maintained for the malignant testicular germ cell tumor, which is 50-times more common than testicular epidermoid cyst. Bilateral testicular epidermoid cysts are a very rare condition, with only a few reports in the literature. It is extremely important in this condition to make a correct pre-operative diagnosis on imaging to enable a testis-sparing surgery.
Congenital; epidermoids; ultrasound; testes
Tunica albuginea (TA) cyst is the most common extratesticular benign mass, which is usually palpable. Ultrasound examination is the imaging modality of choice to characterize palpable testicular lesions. This pictorial essay presents the spectrum of sonographic features of TA cysts in order to assist radiologists in making the correct diagnosis and avoid unnecessary surgeries.
Testicular cyst; tunica albuginea cyst; tunica albuginea; ultrasound
Racial differences are known to account for a higher incidence of systemic lupus erythematosus (SLE), as well as increased disease severity and mortality. The purpose of this study was to determine if there are any race-specific risk factors that affect measures of subclinical atherosclerosis in SLE patients.
Traditional and SLE-related cardiovascular disease (CVD) risk factors were assessed in 106 female SLE patients. Carotid medial intimal medial thickness (mIMT) and coronary artery calcification (CAC) were measured on all subjects. Differences were evaluated between races for all clinical, serologic, and CVD risk factors and the racial interactions with all covariables. Outcomes included mIMT and CAC.
There were no significant differences between races with regard to mIMT or CAC. Significant covariables in the final model for mIMT included age, triglycerides, glucose, and race-age and race-smoking interactions. A prediction model with fixed significant covariables demonstrated that Black subjects with a smoking history had a significantly higher mIMT than Blacks who had never smoked, an effect not seen in Whites. There were no differences between having CAC or with the CAC scores between the races. In the final model for CAC, age and SLE disease duration were significant covariables impacting CAC.
When controlling for other significant CVD covariables and interactions, Black women, but not White, with SLE with a history of smoking have higher mIMT measurements than those who have never smoked. This is the first report documenting the race-specific effect of smoking on subclinical measures of CVD in SLE.
lupus; cardiovascular; smoking; race
Female fertility declines dramatically with age, and childbearing at older maternal ages has significant medical consequences for mother and infant that are well-known to health professionals. Despite this, the average maternal age in the United States continues to rise. Many factors likely contribute to this secular trend; to date, no research has examined whether American women are aware of the complications of deferring conception and how this correlates with health literacy. The purpose of this study was to evaluate women's knowledge of the implications of delaying pregnancy. A structured, in-person interview was administered to 300 women between 20 and 50 years of age attending 1 of 2 gynecologic clinics at a single institution. Demographic information, medical history, and gynecologic history were obtained; and participants answered questions about the implications of aging for fertility and pregnancy outcome. Health literacy and numeracy were assessed. Participants demonstrated knowledge deficits about the implications of aging on fertility and pregnancy, and many were unfamiliar with success rates of infertility treatments. Several demographic factors correlated with knowledge; health literacy and numeracy were both important predictive variables. To the authors' knowledge, this is the first study of women's knowledge about fertility, aging, and their health literacy. Awareness of the importance of health literacy and numeracy should inform future educational efforts about fertility.