Role of HLA alleles polymorphism in systemic lupus erythematosus: A prospective study from North India.

Background: Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder and has complex etiopathogenesis. The most appropriate hypothesis states that genetic susceptibility in the presence of environmental risk factors predisposes to SLE. HLA class II alleles are critical to immune response and are highly polymorphic. Various alleles in HLA-DR and -DQ regions were analyzed in SLE patients and healthy controls to see their role in susceptibility or protection to SLE. Materials and Methods: This was a prospective observational study, in which a total of 100 SLE patients and 100 controls were analyzed. HLA typing was done by polymerase chain reaction (PCR)-sequence-specific oligonucleotide (SSO) method (SSO probe). Results: DRß1*0301 was significantly increased in SLE patients when compared to controls and had the highest odds ratio. Other risk factor alleles found to be increased were DRß1*0701, DQß1*0202, and DQß1*0301, which had a significant positive association with SLE, suggesting their role in susceptibility to SLE. In contrast, DRß1*0401, DRß1*1401, DRß1*1404, DRß1*1501, DQß1*0501, and DQα1*0201 showed statistically significant reduction in SLE patients, while these were much more common in controls, suggesting their protective role. Conclusion: This study is only the second study in patients from North India and it determines the role of DRß1*0301, DRß1*0701, DQß1*0202, and DQß1*0301 alleles as risk factors in SLE patients.

Intact Excision of a Mesenteric Pseudocyst.

Mesenteric cysts are detected in all age groups with almost equal incidence in both genders. Although a rare abdominal growth, it is commonly found in the fifth to seventh decades of life. These are mostly small (asymptomatic) with a 3% chance of malignant transformation. With the increase in the size of the cyst, nonspecific complaints of abdominal pain, distention, discomfort, nausea, vomiting, flatulence, constipation, or diarrhea may develop. Owing to the varied presentation and lack of pathognomonic clinical, laboratory, or imaging findings, these are difficult to diagnose. The subtype mesenteric pseudocyst is even rarer with a reported incidence of less than 1 out of 250,000 hospital admissions and can be found anywhere along the mesentery from the duodenum to the rectum. Etiology is either traumatic or infectious. Incidental diagnosis during abdominal imaging or laparotomy is common. However, it warrants immediate surgical intervention when infected or ruptured. Complete excision of the cyst is the treatment of choice. Here, we report an interesting case of a middle-aged gentleman who had been repeatedly evaluated for a tense abdomen with exudative ascites. Following decompression, he presented to us with a large obliquely mobile mass in the abdomen. The diagnosis was made by clinical and radiological findings and confirmed by histopathological examination of the intact, excised specimen post-laparotomy.

Serum complements and immunoglobulin profiles in systemic lupus erythematosus patients: An observational study at a teaching hospital.

Context: Serum complement proteins and autoantibodies play an important role in the pathogenesis and diagnosis of systemic lupus erythematosus (SLE). Abnormalities in various immunoglobulin levels are described in patients of SLE. Aims: To study the spectrum of clinical manifestations and measure the serum levels of complement C3, complement C4, autoantibodies and immunoglobulin G (IgG) in patients of SLE and compare with healthy controls. Settings and Design: The present study is a prospective hospital-based observational study conducted between May 2014 and December 2018. Statistical Analysis Used: Unpaired t-test was used to compare the mean values between the SLE patients and healthy controls. Material and Methods: A total of 100 cases of SLE and 100 healthy controls were included in the study. The clinical data were retrieved. Serum antinuclear antibody, anti-ds DNA antibody, and anti-Smith antibody levels, and complements C3, C4 and IgG were measured. Results: Arthritis (89%) and anaemia (65%) were two common clinical presentations. The low complement C3 levels and C4 were detected in 64 and 62% of the SLE patients. Serum IgG was increased in 41% of the patients. A reduced level of IgG was detected in 6% of the patients. Conclusion: Primary care physicians should be aware of the clinical and serological manifestations of SLE as early detection will reduce end-organ damage. Autoantibody testing and complement testing should be done in all suspected cases. This study showed a significantly reduced C3 and C4 and elevated IgG in many cases of SLE as compared to control. Hypogammaglobulinemia was also present in a minority of the cases.

Phaeoacremonium species detected in fine needle aspiration: a rare case report.

BACKGROUND: Fine needle aspiration cytology (FNAC) with rapid on-site evaluation has a great potential for the diagnosis of fungal lesions and other opportunistic infections. Fungal infections have been in increasing trend in the past two decades due to immunosuppression, travel, and environmental exposure. Human disease caused by Phaeoacremonium species is rare and was first reported in 1974 as subcutaneous tissue infection in a renal transplant recipient. CASE PRESENTATION: We report a case of subcutaneous tissue swelling in a 67-year-old male, wherein FNAC was done with incidental detection of the fungus (Phaeoacremonium spp). CONCLUSION: There are very few reported cases of subcutaneous infection in humans by Phaeoacremonium spp. Clinical suspicion and FNAC can play an important role in early detection of the fungus, prevent spread, and facilitating early treatment.

Clinico-histopathological study of varicose vein and role of matrix metalloproteinases-1, matrix metalloproteinases-9 and tissue inhibitor of matrix metalloproteinase-1 in varicose vein formation.

BACKGROUND AND AIMS: Varicose vein (VV) is an important cause of morbidity in the young and elderly population. Many studies of the Western country suggest that matrix metalloproteinases (MMPs) and tissue inhibitors of MMPs have a crucial role in the pathogenesis of VV, but limited work has been done in Indian population. The aim of this study is to study detailed histology of VV and to see the expression of MMP-1, MMP-9 and tissue inhibitor of matrix metalloproteinase-1 (TIMP-1). MATERIALS AND METHODS: A total of 63 cases of VV and 10 control leg veins were included in this prospective study. Paraffin sections of VV were prepared. Hematoxylin and eosin (H and E), Masson trichrome and Verhoeff's staining were performed. Immunohistochemistry of VV was done with MMP-1, MMP-9, and TIMP-1 antibodies. Cytoplasmic expression of MMP-1, MMP-9 and TIMP-1 were graded as intense positive (++), weak/slight positive (+), and absent (-). RESULTS: Focal intimal thickening (47.6%), increased medial thickening (73%) and fragmentation of elastin fibers (84.1%) were the major histological changes noted in H and E and special stained sections. MMP-1 expression increased in all layers of VV in 58 cases (92.1%) as compared to control veins. As compared to the control veins, intimal and adventitial expression of MMP-9 were increased in 31 (49.2%) and 40 (63.5%) cases, respectively. Expression of TIMP-1 was absent in both the varicose and the control veins. CONCLUSION: Increased expression of MMP-1 and MMP-9 suggests they have an important role in the pathogenesis of VV.

Cutaneous metastases of prostatic adenocarcinoma.

Prostatic adenocarcinoma (PA) is a common visceral malignancy of elderly men. Cutaneous metastasis of PA is rare. The incidence is <1%. A 55-year-old man presented with urinary symptoms and multiple cutaneous nodules around suprapubic region, inner aspect of both thighs and scrotum. Fine-needle aspiration cytology (FNAC) of cutaneous nodules was suggestive of metastatic adenocarcinoma. Skin and prostatic biopsies confirmed the cytological diagnosis. Serum level of prostate specific antigen was raised. Total prostatectomy revealed adenocarcinoma of Gleason's score 7 (3 + 4). Though rare, cutaneous metastases of PA must be known to cytopathologists. Meticulously performed FNAC in such cases may help in early diagnosis.