Unknown presentation of a rare genetic disorder: Monogenic diabetes in young type 4 presenting with hepatic cysts and procoagulant state.

Maturity onset diabetes in young (MODY) is the most common form of monogenic diabetes, which characteristically presents in adolescents and young adults. Till date, pathogenic variations involving 14 different genes have been causally implicated with the development of MODY. Maturity onset diabetes in young type 4 (MODY-4) is a very rare form of MODY. We present here case of 28-year-old nonobese male patient with distinct family history of diabetes spanning two generations, incidentally, detected to have a rare form of diabetes on genetic analysis when he presented with recurrent thromboembolic manifestations: deep vein thrombosis and pulmonary thromboembolism. Our case highlights a previously unknown disease association of a rare genetic disorder. Increasing awareness about this genetic disorder and early identification of such cases will enhance our understanding of hitherto unknown disease associations and the pathophysiological role of genetic mutations. This may contribute to the improved treatment and prevention of debilitating diseases such as diabetes.

Are vitamin D, B12, and folate deficiency associated with depressive disorder? A case-control study.

Background: Depression is a global burden with complex etiopathogenesis. Some nutrients including vitamin D, B12, and folate deficiency have been considered risk factors for depression. Therefore, this study has been contemplated to find out the possible association of vitamin D, B12, and folate deficiency with depression. Method: This study included 81 case subjects with depression and 95 control subjects without any International Classification of Diseases (ICD)-10 diagnosis. The sociodemographic details were collected from each subject. Beck's Depression Inventory (BDI) was administered to identify the severity of depression. The blood samples were collected and measured for vitamin D, B12, and folate along with other laboratory investigations as per exclusion criteria. The data were obtained and analyzed using descriptive and inferential statistics. Results: The mean age ± standard deviation (SD) of the case and control subjects were 34.86 ± 9.25 and 33.49 ± 8.44, respectively, without any significant difference (P > 0.05). The subjects with vitamin D deficiency were found to have four times higher odds (OR 4.703; 95% CI = 2.378-9.300) for depression compared to subjects with sufficient vitamin D levels. In addition, there was a negative correlation between vitamin D levels and the severity of depression as per BDI scoring (r = -.384, P < 0.01). However, there was no significant association identified between the case and control group with respect to serum vitamin B12 and folate levels. Conclusion: The results of the study revealed that vitamin D deficiency has an association with depression. However, further research studies are needed to validate its correlation to the etiopathogenesis of depression.

Solid papillary carcinoma of the breast.

Solid Papillary Carcinoma (SPC) of the breast is a rare tumor with an incidence of less than 1%, mainly affecting elderly females. It is morphologically characterized by well-defined nodules with low-grade nuclear features associated with fibrovascular cores and shows neuroendocrine differentiation. SPC can be in-situ or invasive but has a favorable prognosis. It is a morphological mimicker of some pre-malignant conditions leading to its frequent misdiagnosis. An appropriate immunohistochemical (IHC) panel workup helps in distinguishing this tumor from its various morphological mimics. In this report, we present one such case of SPC with a small focus of invasion, reviewing the literature.

Solid papillary carcinoma of the breast

Solid Papillary Carcinoma (SPC) of the breast is a rare tumor with an incidence of less than 1%, mainly affecting elderly females. It is morphologically characterized by well-defined nodules with low-grade nuclear features associated with fibrovascular cores and shows neuroendocrine differentiation. SPC can be in-situ or invasive but has a favorable prognosis. It is a morphological mimicker of some pre-malignant conditions leading to its frequent misdiagnosis. An appropriate immunohistochemical (IHC) panel workup helps in distinguishing this tumor from its various morphological mimics. In this report, we present one such case of SPC with a small focus of invasion, reviewing the literature.

A study to analyze the pattern of synovial lesions from synovial biopsies in a tertiary care centre.

INTRODUCTION: Synovium has been documented as a primary site of inflammation and a major effector organ in a variety of joint diseases. Study of simple technique like synovial biopsy can help in early diagnosis and treatment of diseases significantly improving outcome of patient in cases of rheumatoid arthritis, osteoarthritis, etc., Only limited data exist on utility of synovial biopsies. AIM AND OBJECTIVES: To analyze the pattern of synovial lesions to differentiate between different kinds of arthritis. Also, to identify early stages of arthritis so as to prevent unnecessary invasive surgical procedure. MATERIALS AND METHODS: It's a retrospective study to analyze 103 cases of synovial lesions diagnosed in last five years at a tertiary care orthopedic center. All synovial biopsies obtained mainly by open method and few by arthroscopic method, that came to the Dept of Pathology were included. Lesions were classified into four categories that is, inflammatory joint diseases, degenerative joint diseases, tumor-like conditions and tumors. RESULTS: Age group most affected was between 61 and 70 years, with male predominance. Osteoarthritis (OA) was the most common histopathological diagnosis. Early OA tissues showed greater lining layer thickness, vessel proliferation, and inflammation, while surface fibrin deposition along with fibrosis was noted in later stages. CONCLUSION: The histo-morphological observations made in this study may have important therapeutic implications for some patients during the early evolution of arthritis and could prevent unnecessary operative intervention of later stages.

Isolated CNS Relapse in Acute Lymphoblastic Leukemia (ALL): An Experience from a Tertiary Care Center.

Aims and Objectives In this study the various parameters of acute lymphoblastic leukemia (ALL), including the clinical features, peripheral blood and bone marrow (BM) findings, immunophenotypic and cytogenetic details in ALL cases who had isolated relapse involving the central nervous system (CNS), were studied. Patients/Materials and Methods Duration of the study is from 2015 to 2019 in which 5 ALL cases were presented to this tertiary care center. The presenting symptoms varied from headache, fever, and distension of abdomen. These cases were either on therapy or post completion of chemotherapy. The diagnosis of CNS relapse followed after the examination of cerebrospinal fluid (CSF). Patients also underwent BM examination to rule out systemic relapse. Results Age of patients ranged from 7 months to 42 years. There were three female patients. Two patients had isolated CNS relapse 3.5 years after completing therapy and succumbed to their illness. Two patients had t(9;22) while one patient had t(1;14) cytogenetic abnormality at diagnosis. One patient was diagnosed as T-ALL. Treatment offered was German Multicentre ALL protocol for induction along with 10 cycles of maintenance. Conclusion The most common hematolymphoid malignancy in children namely ALL accounts for 75% of childhood leukemias. Complete remission rates reach up to 70 to 80%. CNS involvement is known to occur in these cases. CNS relapse may occur alone or with systemic relapse. Advances in therapeutic protocols along with CNS prophylaxis have drastically brought down the rates of CNS relapse. It is essential to maintain a high degree of suspicion so that these cases of isolated CNS relapse can be identified at the earliest and definitive therapy can be offered.

Management outcomes of mucormycosis in COVID-19 patients: A preliminary report from a tertiary care hospital.

BACKGROUND: Coronavirus disease 2019 (COVID-19) continues to be a significant health problem worldwide. The unprecedented surge of mucormycosis in patients with COVID-19 is a new emerging challenge. Although a few studies documenting high incidence of mucormycosis in COVID -19 patients have recently emerged in literature, data pertaining to treatment outcomes in such cohorts is lacking. Here, we report our experience in management of mucormycosis in COVID-19 patients at our tertiary care centre. METHOD: The clinical, imaging, histopathological and treatment data of 20 patients with mucormycosis (in setting of COVID-19) was analysed. RESULTS: 35% and 65 % of cases developed mucormycosis in setting of active and recovered COVID-19 infections respectively. Diabetes mellitus was documented in 80% cases, with 55% demonstrating HbA1c >10%. Steroid was administered in 80% during COVID-19 illness. Imaging demonstrated paranasal sinus (PNS), orbital and intracranial extension in 100%, 55% and 20% patients respectively. All received amphotericin and underwent endoscopic debridement, 20% underwent orbital decompression and 5% maxillectomy with orbital exenteration. 6/20(30%) patients died (4 with rhino-orbito-cerebral disease, 1 with extensive orbito-maxillary involvement and 1 sino-nasal disease). All 6 patients received steroids and documented poor glycaemic control. CONCLUSION: The strong association of hyperglycemia and steroid intake with mucormycosis in COVID-19 cases warrants judicious use of corticosteroids and optimal glycaemic control. Our study highlights that good clinical outcome can be achieved in invasive mucormycosis provided prompt treatment is instituted with aggressive surgical debridement and antifungal medication.

Evaluation of Bone Marrow Microvessel Density in Patients with Aplastic Anemia.

Bone marrow microenvironment plays a crucial role in the growth of hemopoietic cells and bone marrow function, which in turn depends on an intact microvasculature. Our study assesses the microvessel density (MVD) in the bone marrow of aplastic anemia (AA) patients, compares with MVD of controls and MVD among the different types of AA. Bone marrow specimens from 60 patients with AA and 17 controls were studied. There were 33 patients with non severe AA (NSAA), 12 patients with severe AA (SAA) and 15 patients with very severe AA (VSAA). MVD was calculated on sections stained immunohistochemically for CD34. The mean bone marrow MVD in AA group was 1.28 ± 0.36, being significantly lower than that in control group (6.80 ± 1.59, p < 0.001). MVD of SAA and NSAA patients were 1.16 ± 0.35 and 1.49 ± 0.27, respectively, being significantly different (p = 0.003). MVD of VSAA was 0.93 ± 0.25 and the difference with NSAA is significant, however there was no significant difference between SAA and VSAA. Bone marrow MVD is low in AA patients and is likely to have a role in pathophysiology of bone marrow failure. Proangiogenic agents together with specific therapy might accelerate the recovery of hematopoiesis in AA patients.