Autoimmunity-related LINC01934 and AP002954.4 lncRNA polymorphisms may be effective in pediatric celiac disease: a case-control study.

OBJECTIVE: Various studies have reported that certain long non-coding RNA levels are unusually low in the intestines of celiac disease patients, suggesting that this may be associated with the inflammation observed in celiac disease. Despite these studies, the research aimed at uncovering the potential role of long non-coding RNAs in the pathogenesis of autoimmune diseases like celiac disease remains insufficient. Therefore, in this study, we plan to assess long non-coding RNA polymorphisms associated with autoimmunity in children diagnosed with celiac disease according to the European Society for Paediatric Gastroenterology Hepatology and Nutrition criteria. METHODS: DNA was isolated from paraffin tissue samples of 88 pediatric celiac disease patients and 74 healthy pediatric individuals. Single-nucleotide polymorphism genotyping of five long non-coding RNA polymorphisms associated with autoimmunity (LINC01934-rs1018326, IL18RAP-rs917997, AP002954.4-rs10892258, UQCRC2P1-rs6441961, and HCG14 rs3135316) was conducted using the TaqMan single-nucleotide polymorphism genotyping assays with the LightCycler 480. RESULTS: In our study, the genotypic and allelic frequency distribution of LINC01934-rs1018326 and AP002954.4-rs10892258 polymorphisms was found to be statistically significant in the comparison between the two groups (p<0.05). According to the multiple genetic model analyses, the LINC01934-rs1018326 polymorphism was observed to confer a 1.14-fold risk in the recessive model and a 1.2-fold risk in the additive model for pediatric celiac disease. Similarly, the AP002954.4-rs10892258 polymorphism was found to pose a 1.40-fold risk in the dominant model and a 1.7-fold risk in the additive model. CONCLUSION: Our study results draw attention to the LINC01934-rs1018326 and AP002954.4-rs10892258 polymorphisms in celiac disease and suggest that these polymorphisms may be associated with inflammation in autoimmune diseases like celiac disease.

Predictors of Significant Histological Hepatic Abnormality in Treatment-Naive Patients Infected with HBeAg-Negative Chronic Hepatitis B.

Objective: This study aimed to determine the predictors for significant hepatic abnormality (SHA), a treatment indication, by assessing demographic, laboratory, and radiological results of chronic hepatitis B (CHB) patients who underwent liver biopsy. Materials and Methods: In this retrospective study, individuals with untreated hepatitis B e-antigen (HBeAg)-negative CHB infection were enrolled. Multivariate analysis modeling was conducted with parameters identified as predictors for SHA in univariate analysis. Optimal threshold levels for variables to predict SHA in patients with chronic hepatitis B were determined based on receiver operating characteristic (ROC) curve analysis. Results: A total of 566 patients with untreated chronic hepatitis B were included in the cohort; 61% (345/566) were male, and the median age was 41 years (interquartile range [IQR]=34-50). Notably, 36.9% (209/566) had SHA. In the multivariate analysis, utilizing different models, age, gender, HBV-DNA, LDL, ALT, and platelet count were identified as the most reliable predictors for SHA in CHB patients. For predicting SHA, the area under the ROC curve values of HBV-DNA, AST, and ALT were 0.704 (sensitivity=62.8%, specificity=76.2%; p<0.0001), 0.747 (sensitivity=51.9%, specificity=88.9%; p<0.0001), and 0.737 (sensitivity=68.6%, specificity=68.4%; p<0.0001), respectively. Conclusion: In our study, age, male gender, ALT, AST, HBV-DNA, LDL cholesterol, platelet count, and FIB-4 score were independent predictors of SHA in HBeAg-negative chronic hepatitis B. The most sensitive parameters for SHA were LDL and ALT. The most specific parameters were age, AST, and APRI score. SHA may occur in patients with high HBV-DNA levels, even if ALT values are normal in HBeAg-negative patients.

Adenoid Cystic Carcinoma of the Breast: Multimodality Imaging Findings and Review of the Literature.

RATIONALE AND OBJECTIVES: Adenoid cystic carcinoma (ACC) of the breast is a rare type of breast cancer with favorable prognosis. There is limited data on the radiological findings of this rare tumor in literature. The aim of this study is to determine the most common imaging features and review the literature. MATERIALS AND METHODS: Pathological databases of seven institutions from 2009 to 2021 were retrospectively reviewed, and patients with a diagnosis of ACC of the breast were determined. Thirteen patients whose imaging studies could be recalled from the picture archiving systems (PACS) were included in the study. Clinical and pathological findings as well as follow-up data were recorded. Radiological findings were analyzed and categorized based on BI-RADS 5th edition. RESULTS: There were 16 mass lesions in 13 patients (two multifocal cases, one case with recurrence). Mammography demonstrated 14 masses, while ultrasound (US) demonstrated all. MRI was available in only seven cases, with eight masses. The most common findings were round or oval shape on all modalities (78.57%-93.75%). Other frequent findings were parallel orientation (81.25%), isoechoic or hyperechoic echogenicity (62.5%), high T2 signal (87.5%), restricted diffusion (71.43%), and homogeneous enhancement (62.5%). Mammography, US and MRI showed circumscribed margins resembling a benign lesion in 35.71%, 37.5% and 50% of the lesions respectively. Three patients had a cyst-like echogenicty on US. Half of the lesions were avascular on Doppler US (6/12) and half were soft (2/4) on strain elastography. Although there were benign features on all imaging modalities seperately, all lesions could be categorized as BI-RADS 4 or 5 when the findings were combined. However 9/16 masses were BI-RADS 4A, emphasizing the subtlety of the malignant features. CONCLUSION: ACC of the breast can present with findings resembling a benign lesion on different imaging modalities. Although combination of all imaging findings correctly indicated the suspicious nature of the lesions in all cases, final classification was BI-RADS 4A in most of them. Radiologists should be aware of the more frequent findings of ACC of the breast for early diagnosis. US findings of isoechoic or hyperechoic appearance, and cyst-like echogenicity have not been reported previously in literature.

Leucine-Rich Glioma-Inactivated Protein 1 Antibody-Positive Polyradiculopathy Associated with Epstein-Barr Virus Infection.

Epstein-Barr virus (EBV) has been associated with a plethora of neurological manifestations including polyneuropathy and polyradiculopathy. A 27-year-old man with a recent upper respiratory system infection presented with difficulty in walking. His neurological examination revealed reduced muscle strength in both proximal and distal lower limb muscles without sensory and autonomic signs. Needle electromyography showed abnormal spontaneous activity and reduced recruitment of motor units in muscles innervated by multiple lumbo-sacral roots. Cerebrospinal examination showed increased protein levels with normal cell counts. While spinal MRI was normal, whole-body CT and PET examination showed disseminated lymph node enlargement. Anti-EBV viral capsid antigen and anti-nuclear antigen IgG but not IgM was positive, whereas EBV PCR was negative in blood. Analysis of inguinal lymph node biopsy showed reactive lymphoid hyperplasia and EBV DNA. Leucine-rich glioma-inactivated protein 1 (LGI1) antibody was found in serum but not in CSF. All clinical, imaging, and electrophysiological findings improved following steroid and intravenous immunoglobulin treatment. These findings suggested the acute involvement of lumbo-sacral spinal roots and/or motor neurons. Purely motor polyradiculopathy has been reported in both EBV-positive and LGI1 antibody-positive patients, and EBV infection is known to precede different autoimmune manifestations. Whether EBV infection may trigger LGI1 autoimmunity and cause involvement of spinal motor roots and/or motor neurons needs to be further studied.

Pigmented purpuric dermatosis: Ten years of experience in a tertiary hospital and awareness of mycosis fungoides in differential diagnosis.

BACKGROUND: Pigmented purpuric dermatoses (PPD) can clinically mimic many diseases. Histopathology provides a definitive diagnosis. The aim of the study is to reveal the features of patients with PPD and to determine the disease frequency in the differential diagnosis, especially mycosis fungoides (MF). METHODS: We retrospectively reviewed records of patients with PPD admitted to our hospital from January 2010 to May 2019. We studied the histopathological features of 127 patients, and performed pattern analysis on cases with a confirmed histopathologic diagnosis of PPD. Among the cases presenting with clinical features of PPD, but displaying different histopathological diagnoses, we focused on MF and tried to clarify the features of PPD-like MF. RESULTS: Overall, 389 patients were admitted to our hospital with PPD symptoms. Of them, 262 patients were diagnosed clinically and a histopathological examination was performed in 127 patients. Of 127, 87 were diagnosed with PPD, and in the remaining 40, non-specific features (9.4%), vasculitis (6.2%), pityriasis rosea (4.7%), MF (3.9%), suspected-MF (1.5%), and other dermatoses (%5.5) were detected. The biopsy findings of two patients showed PPD, but during follow-up, the diagnosis of MF was established. CONCLUSIONS: MF should be included in the differential diagnosis of PPD cases presenting with longstanding and widespread involvement.

Systemic isotretinoin treatment in a renal transplant patient developing sebaceous hyperplasia due to cyclosporine.

Sebaceous hyperplasia (SH) is a benign tumor with telangiectasia on it, yellowish or skin-colored, with papulosis. Besides genetic factors, aging, ultraviolet rays, sex hormones, calcineurin inhibitors, such as cyclosporin, tacrolimus and systemic steroids, play a role in the development of sebaceous hyperplasia. Cyclosporin is widely used in organ transplant patients. Acne, keratosis pilaris, sebaceous hyperplasia and epidermoid cysts, which are rare side effects, are frequently seen in renal transplant patients and it is suggested that the pilosebaceous unit develops as a result of occlusion with keratinous material. It is thought that cyclosporine causes these side effects by increasing the secretion of sebum and 5-alpha reductase enzyme activity. In this case study, wepresent here a 36-year-old female patient who had been on cyclosporine treatment for 25 years and had a large number of yellowish, umblike papules on her face for 20 years. She had been diagnosed with cyclosporin triggered by clinical and histopathological findings. The patient was started on 40 mg/day (0.6 mg/kg/day) systemic isotretinoin treatment, and after two months treatment, the patient had almost complete regression of the lesions. Systemic isotretinoin is effective and easy to treat treatment for patients with multiple lesions, especially when compared to other treatments. In addition, all of the cases reported in the literature are male, and this report presents the first female transplant patient with SH, which is induced by cyclosporine use.

The Coexistence of Autoimmune Pancreatitis and Crohn's Disease in an Adolescent Case.

Although autoimmune pancreatitis is not seen in children frequently, it is included in the etiology of chronic pancreatitis. A 16-year-old girl who was diagnosed with chronic pancreatitis 4 months previously, presented to the outpatient clinic with abdominal pain on the epigastric region, and left lower abdominal quadrant and bloody defecation. Remarkable laboratory test results were as follows: amylase: 109 U/L, lipase: 196 U/L, Ig G:13.70 g/L, IgG4:2.117 g/L, fecal calprotectin 573 µg/g. In the MRCP examination, revealed enlarged pancreas with a heterogeneous appearance, dilated main pancreatic duct. Colonoscopic and histopathological findings were consistent with inflammatory bowel disease. The case was diagnosed as Crohn's disease coursing with autoimmune pancreatitis. Clinical and laboratory findings regressed after steroid treatment. Autoimmune pancreatitis is important in that it is rarely seen in children and though less frequently it is associated with Crohn's disease. It should be kept in mind that inflammatory bowel disease may develop in the follow-up of autoimmune pancreatitis and autoimmune pancreatitis may be present in the etiology of chronic pancreatitis.

Image-guided breast biopsy and localisation: recommendations for information to women and referring physicians by the European Society of Breast Imaging.

We summarise here the information to be provided to women and referring physicians about percutaneous breast biopsy and lesion localisation under imaging guidance. After explaining why a preoperative diagnosis with a percutaneous biopsy is preferred to surgical biopsy, we illustrate the criteria used by radiologists for choosing the most appropriate combination of device type for sampling and imaging technique for guidance. Then, we describe the commonly used devices, from fine-needle sampling to tissue biopsy with larger needles, namely core needle biopsy and vacuum-assisted biopsy, and how mammography, digital breast tomosynthesis, ultrasound, or magnetic resonance imaging work for targeting the lesion for sampling or localisation. The differences among the techniques available for localisation (carbon marking, metallic wire, radiotracer injection, radioactive seed, and magnetic seed localisation) are illustrated. Type and rate of possible complications are described and the issue of concomitant antiplatelet or anticoagulant therapy is also addressed. The importance of pathological-radiological correlation is highlighted: when evaluating the results of any needle sampling, the radiologist must check the concordance between the cytology/pathology report of the sample and the radiological appearance of the biopsied lesion. We recommend that special attention is paid to a proper and tactful approach when communicating to the woman the need for tissue sampling as well as the possibility of cancer diagnosis, repeat tissue sampling, and or even surgery when tissue sampling shows a lesion with uncertain malignant potential (also referred to as "high-risk" or B3 lesions). Finally, seven frequently asked questions are answered.

Multifactorial Painful Leg Ulcers Due to Hyperhomocysteinemia, Plasminogen Activator Inhibitor-1 4G/5G Heterozygote Gene Mutation, and Beta Thalassemia Minor: A Case Report.

Leg ulcers may occur due to many autoimmune, hereditary, inflammatory, and infectious causes including venous, arterial, and neuropathic ulcers. Hyperhomocysteinemia is a metabolic disorder caused by various enzyme defects in methionine metabolism. The most common cause is methylenetetrahydrofolatreductase (MTHFR) enzyme gene mutations. Hyperhomocysteinemia is an independent risk factor for deep vein thrombosis and peripheral arterial disease. The effects of endothelial cell damage on smooth muscle hypertrophy, platelet aggregation, coagulation, and fibrinolysis cause atherogenesis and thrombosis, leading to venous and arterial lower extremity ulcers. In this article, we report the case of a 47-year-old male patient who was admitted to our clinic due to painful leg ulcers that started 1 year ago. He had a history of vena cava inferior thrombosis, deep vein thrombosis, and 40 pack-year smoking. Histopathological examination of punch biopsy taken from ulcerative lesion showed intense inflammatory infiltration in the middle dermis, erythrocyte extravasation, leukocytoclasia, and thrombus formation in a small diameter venule lumen. There were nonspecific findings in direct immunofluorescence examination. He was found as having MTHFR C677T homozygote and plasminogen activator inhibitor-1 4G/5G heterozygote gene mutation with high homocysteine level of 22.90 µmol/L, and he was diagnosed as hyperhomocysteinemia. He was recommended to quit smoking because it triggered thrombosis in hyperhomocysteinemia. Herein, we present a case of hyperhomocysteinemia due to MTHFR mutation, which is one of the rare hereditary thrombophilia causes.

Position paper on screening for breast cancer by the European Society of Breast Imaging (EUSOBI) and 30 national breast radiology bodies from Austria, Belgium, Bosnia and Herzegovina, Bulgaria, Croatia, Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Iceland, Ireland, Italy, Israel, Lithuania, Moldova, The Netherlands, Norway, Poland, Portugal, Romania, Serbia, Slovakia, Spain, Sweden, Switzerland and Turkey.

EUSOBI and 30 national breast radiology bodies support mammography for population-based screening, demonstrated to reduce breast cancer (BC) mortality and treatment impact. According to the International Agency for Research on Cancer, the reduction in mortality is 40 % for women aged 50-69 years taking up the invitation while the probability of false-positive needle biopsy is <1 % per round and overdiagnosis is only 1-10 % for a 20-year screening. Mortality reduction was also observed for the age groups 40-49 years and 70-74 years, although with "limited evidence". Thus, we firstly recommend biennial screening mammography for average-risk women aged 50-69 years; extension up to 73 or 75 years, biennially, is a second priority, from 40-45 to 49 years, annually, a third priority. Screening with thermography or other optical tools as alternatives to mammography is discouraged. Preference should be given to population screening programmes on a territorial basis, with double reading. Adoption of digital mammography (not film-screen or phosphor-plate computer radiography) is a priority, which also improves sensitivity in dense breasts. Radiologists qualified as screening readers should be involved in programmes. Digital breast tomosynthesis is also set to become "routine mammography" in the screening setting in the next future. Dedicated pathways for high-risk women offering breast MRI according to national or international guidelines and recommendations are encouraged. KEY POINTS: • EUSOBI and 30 national breast radiology bodies support screening mammography. • A first priority is double-reading biennial mammography for women aged 50-69 years. • Extension to 73-75 and from 40-45 to 49 years is also encouraged. • Digital mammography (not film-screen or computer radiography) should be used. • DBT is set to become "routine mammography" in the screening setting in the next future.

Vacuum-assisted stereotactic breast biopsy in the diagnosis and management of suspicious microcalcifications.

PURPOSE: We aimed to present our biopsy method and retrospectively evaluate the results, upgrade rate, and follow-up findings of stereotactic vacuum-assisted breast biopsy (VABB) procedures performed in our clinic. METHODS: Two hundred thirty-four patients with mammographically detected nonpalpable breast lesions underwent VABB using a 9 gauge biopsy probe and prone biopsy table. A total of 195 patients (median age 53 years, range 32-80 years) with 198 microcalcification-only lesions with a follow-up of at least one year were included in the study. The location of the lesion relative to the needle was determined from the postfire images, and unlike the conventional technique, tissue retrieval was predominantly performed from that location, followed by a complete 360° rotation, if needed. RESULTS: The median core number was 8.5. Biopsy results revealed 135 benign, 24 atypical, and 39 malignant lesions. The total upgrade rate at surgery was 7.7% (6.1% for ductal carcinomas in situ and 10.5% for atypical lesions). Patients with benign lesions were followed up for a median period of 27.5 months, with no interval change. At the follow-up, scar formation was seen in 23 patients (17%); three of the scars were remarkable for resembling a malignancy. CONCLUSION: Our biposy method is fast and practical, and it is easily tolerated by patients without compromising accuracy. Patients with a diagnosis of atypia still need to undergo a diagnostic surgical procedure and those with a malignancy need to undergo curative surgery, even if the lesion is totally excised at biopsy. VABB may leave a scar in the breast tissue, which may resemble a malignancy, albeit rarely.

Radio-guided lymph node biopsy for the diagnosis of axillary lymphadenopathy.

Ultrasonography-guided needle biopsy techniques have limitations and conventional excisional biopsy may pose challenges in the diagnosis of ultrasonography-demonstrable axillary lymphadenopathy. In this study, we report an alternative technique, radio-guided lymph node biopsy, and describe its technical aspects and diagnostic role. Between January 2006 and December 2009, six patients were included in this study (five women and one man, aged 23-65 years). After a complete clinical evaluation, all the patients were referred to our general surgery clinic for excisional lymph node biopsy from the axilla. The indications of biopsy were either the new onset of an axillary lympadenopathy on post-therapeutic screening or the presence of a persistent axillary lymphadenopathy. In all of the cases, ultrasonography confirmed the clinical suspicion of axillary lymphadenopathy and the radio-guided lymph node biopsy technique was used for the diagnosis. Tc-99m-labelled human serum albumin macroagregate in saline was injected under ultrasonographic guidance for the localization of the lymph nodes. A γ-probe was used to guide the excisions.The lymph nodes that were involved were successfully localized and excised surgically. The postoperative course was uneventful and no complications occurred in all cases. Pathological examination of the excised lymph nodes showed reactive hyperplasia in three patients, tuberculous lymphadenitis in one patient, Hodgkin's lymphoma in another and, non-Hodgkin's lymphoma in one patient. Radio-guided lymph node biopsy has proved to be an accurate and a safe technique for the diagnosis of axillary lymphadenopathies in the indicated subset of patients.

The role of US and MR imaging in detecting local chest wall tumor recurrence after mastectomy.

PURPOSE: To determine the role of clinical examination, ultrasonography (US), and magnetic resonance imaging (MRI) in detecting local tumor recurrence in patients who underwent modified radical mastectomy for breast cancer. MATERIALS AND METHODS: The study included 27 patients who were examined between April 1999 and April 2003. US evaluation of the chest wall was performed in all patients. MRI was performed on 10 patients due to suspicious findings in clinical examination, on 3 patients due to US findings, and on 8 patients due to both US and clinical examination findings. Six patients without any suspicious findings underwent MRI for follow-up purposes. The lesions detected with MRI were evaluated according to their morphology, contrast enhancement characteristics and dynamics. The focal lesions that enhanced intensely at the early phase were accepted as suspicious for malignancy. RESULTS: Of the 10 cases that underwent biopsy secondary to suspicious lesions for malignancy according to MRI findings, 7 were found to have recurrence. In the remaining 3 patients, recurrence diagnosis was made based on the fact that the lesions regressed in response to chemotherapy. In 17 cases, there were no suspicious findings on MRI for local recurrence. In 2 of these cases, biopsies were performed due to suspicious US findings; however, no malignancies were detected. The sensitivity and specificity of clinical examination in detecting local recurrence was 70% and 35.2%, respectively. These values were 90% and 88.2% for US, and 100% and 100% for MRI. CONCLUSION: In patients with mastectomy, US and MRI were more successful in detecting local recurrence than clinical examination. Considering the fact that US is cheaper and more readily available than MRI, it should be part of the routine follow-up in order to detect local recurrence early. MRI will be helpful in cases with suspicious US findings by increasing the specificity of the evaluation as well as determining the actual size and spread of any lesions, which is valuable information for the subsequent management and response to the particular treatment.

Ultrasound of superficial lymph nodes.

US is a powerful tool for characterization of superficial lymph nodes. Unlike other imaging techniques like CT and MRI, which mainly depend on size for differential diagnosis, US can evaluate important parameters such as shape, margins, internal structure and abnormal vascularization. It has the advantage of showing early subtle findings of neoplastic involvement like asymmetric thickening and focal lobulations in the cortex, as well as late findings such as diffuse cortical thickening and absence of hilum. It is possible to evaluate the heterogeneous inner structure due to necrosis, unsharp or irregular borders due to extracapsular spread and abnormal vascularization with multiple subcapsular feeding vessels due to tumor angiogenesis. The advances in US technology like high-resolution transducers, power Doppler function and contrast agents have all contributed to the well established role of US in the evaluation of lymph nodes. This article mainly focuses on the sonographic criteria for differential diagnosis of normal, reactive, inflammatous and neoplastic lymph nodes as well as examination techniques in the neck, axilla, internal mammary and inguinal regions and indications in various clinical settings.

Gray scale and power Doppler US in the preoperative evaluation of axillary metastases in breast cancer patients with no palpable lymph nodes.

The purpose of this study is to evaluate the accuracy of gray scale and Doppler US findings in the detection of axillary metastases in breast cancer patients with no palpable lymph nodes. One-hundred and ninety-eight lymph nodes detected in 83 women were evaluated. The size and longitudinal/transverse axis ratios of each node were documented. Absence of echogenic hilum, asymmetrical cortical thickening, and presence of peripheral flow were prospectively considered signs of malignancy. Histopathologically, there were 93 malignant and 105 benign nodes. The above criteria and a low longitudinal-transverse axis ratio were statistically significant for malignancy. In lymph nodes smaller than 1 cm, only asymmetric cortical thickening and presence of peripheral flow were significant. The sensitivity, specificity, positive predictive value, negative predictive value and accuracy of US were 86.49, 93.62, 91.43, 89.8 and 90.48%, respectively. In conclusion, US is successful and reliable in the determination of axillary metastatic involvement in nonpalpable and small lymph nodes. Inclusion of axillary US in the preoperative diagnostic evaluation would be complimentary to sentinel node biopsy, and also could eliminate the need for it in patients with positive US results, after confirmation with biopsy.