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.

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.

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.