A case of concomitant connective tissue disorder and thrombotic thrombocytopenic purpura in an Indian middle aged female

Thrombotic thrombocytopenia (TTP) is a rare disease which is rarely present in adults. Adults usually have an acquired version of disease, associated with some underlying autoimmune disease. There has been paucity of literature about reports which shows the coexistence of connective tissue disorder in patients of acquired TTP. This is a case report of a female who presented with vague symptoms of breathlessness, abdominal pain and petechial rashes and was diagnosed as TTP, developed neurological complications but was stabilized by timely management through plasma exchanges and steroids.

Massive pulmonary embolism – what you may be missing?

Our patient is a 68-year-old woman with no known comorbid illnesses, who presented with fever, cough and haemoptysis of 20-days duration. The fever was insidious in onset, intermittent, high grade and was associated with productive cough. There were intermittent episodes of scoughing up of blood-tinged sputum mixed with clots. She was evaluated at another centre and was diagnosed with a pulmonary embolism based on a computed tomographic imaging of the thorax. When she presentation to us, she was hemodynamically stable and her systemic examination was within normal limits. Her computed tomography (CT) scan were reviewed and she was labelled to have an intermediate risk pulmonary embolism. She was initiated on Injection enoxaparin and was simultaneously evaluated for the aetiology of her illness wherein an USG guided supraclavicular lymph node biopsy lead to a diagnosis of extrapulmonary tuberculosis. She was initiated on first line ATT and was discharged on the same. Anticoagulation was continued on discharge. She is currently doing well on follow up. Our objective is to shed light on the association between tuberculosis and pulmonary embolism and to emphasize the need for a thorough evaluation to identify an occult infective focus in patients presenting with venous thromboembolism.

The Hindi Version of International Consensus Criteria: A Cross-cultural Adaptation and Validation Study for Myalgic Encephalomyelitis in Post-COVID Patients

Context: Fatigue is the most prominent feature of long COVID. With the increasing burden of long COVID cases post-acute phase of illness after recurrent waves of the pandemic, understanding its pathophysiology is of paramount importance. Such fatigue and post-viral illness could be associated with features of neuroimmune exhaustion and thus be a part of a larger syndrome such as myalgic encephalomyelitis (ME). Identifying the proportion of patients having ME from those experiencing fatigue would bring us one step closer to understanding the pathophysiology. International consensus criteria (ICC) originally published in English (ICC-E) is a valid and reliable tool for identifying cases of ME. However, a validated Hindi version of ICC-E is not available. Aims: To develop and validate an equivalent version of ICC-E in the native Hindi language (ICC-H) to suit Indian patients and health care workers even at peripheries and to make conducting large scales surveys more feasible. Subjects and methods: Once permission from the ethics board was granted, guidelines given by MAPI Research Trust were followed and ICC-H was developed from ICC-E, in the following steps: (a) translation to Hindi, (b) back translation, (c) comparison between the translated and back-translated version performed by experts, and (d) pre-pilot test in the intended population. The ICC-H was applied to 53 bilingual individuals knowing both Hindi and English. Statistical analysis used: The distribution of Hindi and English questionnaires was analyzed using the Chi-square test and Spearman’s correlation coefficient was used for correlation between answers of each question. Results: The score of individual items and its global score was highly correlated with each other (p<0.001). The scores of individual components and global scores of ICC-H at baseline and original ICC-E after 4 weeks did not differ significantly. Conclusion: This study shows that the ICC-H is a valid and reliable instrument for the assessment of ME. ICC-H can be used for Hindi speaking population for identifying cases of ME.

FLI1 and MIC2 expression in precursor B-lymphoblastic leukemia with Burkitt-like morphology and extensive extramedullary involvement: A diagnostic challenge in pediatric small round cell tumor

Pediatric small round cell tumors (PSRCTs) constitute a large proportion of childhood malignancies with overlapping diagnostic and clinical features but radically different therapies. Here, we report a case of 16-year-old male child presenting with diffuse abdominal and mediastinal mass, axillary lymphadenopathy, and pleural effusion. Bone marrow aspirate showed near total replacement by small round malignant cells. The bone marrow biopsy showed interstitial infiltration by malignant cells, which were CD45? CD3? CD20? MIC2+ FLI1+ and diagnosis of Ewing's sarcoma was established. In contrast, flowcytometric immunophenotyping of the bone marrow aspirate showed CD45? cells, which were CD19+ cytCD79a+ CD10+ CD81+ CD38+ HLA-DR+ CD22+ CD20? consistent with B-cell acute lymphoblastic leukemia (B-ALL). The extended immunostaining panel on bone marrow biopsy also showed positivity for cytCD79a, CD10, CD19, and BCL-2, whereas fluorescent in-situ hybridization for EWSR1 gene rearrangement was negative. Thus, a final diagnosis of CD45? FLI1+ MIC2+ B-ALL was established. Rare cases of CD45? B-ALL with immunoreactivity for MIC2 and Friend leukemia virus integration 1 (FLI1) have posed a diagnostic challenge for PSRCTs in the recent past. This case report highlights the role of multimodality approach in establishing a correct diagnosis in CD45? PSRCTs to ensure definitive therapy and better clinical outcome.

Qualitative defects with normal sperm counts in a patient attending infertility clinic

Background: Sperm morphology is an important qualitative parameter in semen analysis. Aim: To assess qualitative defects in the semen with normal sperm counts. Setting and Design: This was a prospective and descriptive study done in a tertiary care center. Materials and Methods: Seventy-five semen samples with normal sperm counts were evaluated. Qualitative defects of sperms on Papanicolaou-stained slides were assessed. The defects were noted as follows: head (tapering head, large head, small head, round head, bifid head), middle piece (bent neck, broad middle piece, excess residual cytoplasm), and tail (coiled tail). Results: All cases showed the qualitative defects in spite of the normal counts. The defects found in head – pointed/tapering head (1%–20%), round head (1%–7%), large head (1%–3%) and others (0%–2%); in middle piece – bent neck (1%–8%), excess cytoplasm (1%–3%) or broad middle piece (1%–12%); and in tail – coiled tail (1%–5%). Conclusions: Qualitative defects are often seen even in cases with normal sperm counts.

Male breast cancer: A single institute experience.

BACKGROUND: Male breast cancer (MBC) is a rare disease and accounts for 1% of all breast cancers. There is limited data on MBC from India. The aim of our study was to assess clinico‑pathological parameters and outcome in MBC patients. MATERIALS AND METHODS: This analysis was carried out in 76 patients of MBC who were registered at Institute Rotary Cancer Hospital of All India Institute Of Medical Sciences between 1996 and 2012. Patients’ records were retrospective reviewed and data obtained from the computer database using International Classification of Diseases code (C‑50). RESULTS: The median age was 59 years (range: 28‑80). The median duration of symptoms was 11 months (range: 0.5‑40). Breast lump was the most common presenting symptom (left > right side). American Joint Committee on Cancer (7th edition) stage distribution was Stage I‑2.6%, Stage II‑13.1%, Stage III‑59.3% and Stage IV‑25%. Modified radical mastectomy was the commonest surgical procedure. Moreover, 30% of tumors were high‑grade and 70% had pathological node positive disease. Estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 (HER2)/neu positivity was 80% and 28%, respectively. Triple negative breast cancer constituted 19% of cases. With a median follow‑up of 36 months, 3 years relapse free survival and overall survival was 60% and 80%. Advanced stage and visceral metastasis at baseline predicted poor outcome. CONCLUSION: MBC constituted 0.8% at our institute. Our study population had a longer time to presentation, advanced disease at presentation, more HER2/neu positivity and triple negativity higher than the available literature.

Young breast cancer: A single center experience.

BACKGROUND: Breast cancer in women aged less than 35 years is uncommon and accounts for 1‑2% of all breast cancer in the West. There is a paucity of data on young breast cancer from India. The aim of this study was to analyze the clinical, pathological, prognostic factors and outcome in young breast cancer patients. MATERIALS AND METHODS: This analysis was performed in 251 patients aged <35 years or less (defined as breast cancer in the young), who were registered at our institute over an 11 year period between 2001 and 2011. RESULTS: The median age was 31 years (range 18‑35). Positive family history (siblings and parents) was elicited in only 10 patients. The TNM stage distribution was: Stage I was 2.5%, stage II ‑ 20.5%, stage III ‑ 55% and stage IV - 22%. The median clinical tumor size was 5.1 cm. Modified radical mastectomy was the most common surgical procedure and this was done in 79% of cases. 40% of tumors were high grade and 60% had pathological node positive disease. Estrogen and Progesterone and human epidermal growth factor receptor 2/neu positivity were 33% and 29% respectively. Triple negative breast cancer constituted 31% of patients. With a median follow‑up of 30 months, 3 years relapse free survival and overall survival was 51% and 66%. CONCLUSION: Young women constituted 8% of breast cancer cases. Advanced disease at presentation and triple negativity (nearly one third of patients) results poor outcome.

Pregnancy associated breast cancer: An institutional experience.

BACKGROUND: Pregnancy‑associated breast cancer (PABC) has been defined as breast cancer diagnosed during pregnancy or within 1 year of delivery. There is a paucity of data on PABC from India. The aim of our study was to assess the clinical‑pathological parameters and outcome of PABC at Institute Rotary Cancer Hospital, All India Institute of Medical Sciences. MATERIALS AND METHODS: We screened approximately 3,750 cases registered from January 2001 to December 2012 and found 26 cases of PABC. Patients’ records were obtained from the computer database using International Classification of Diseases code (C‑50). RESULTS: The median age was 26 years (range 20‑35). The median duration of symptoms was 11.5 months. The American Joint Committee on Cancer stage distribution was Stage I ‑ 1, Stage II ‑ 3, Stage III ‑ 14 and in Stage IV ‑ 8 patients. Median clinical tumor size is 5.5 cm. Four patients were presented with the inflammatory breast cancer. Positive family history was elicited in three patients. Twenty‑one patients were diagnosed after delivery, two patients in the first trimester, two patients in the second trimester and three patients in the third trimester. Estrogen receptor (ER), progesterone receptor (PR) negativity and human epidermal growth factor receptor 2 (HER2/neu) positivity was 56% and 38%, respectively. Nearly, 40% of patients had a high‑grade tumor and 70% had pathological node positivity. With a median follow‑up of 33 months, 3 years relapse free survival and overall survival was 40% and 50% respectively. Bone was the most common site for systemic relapse. CONCLUSIONS: PABC constituted 0.7% of all breast cancer patients. It is associated with advanced stage at presentation. Half of them were ER/PR negative and one‑third was HER2/neu positive.

Triple‑negative breast cancer: An institutional analysis.

AIM: Triple‑negative breast cancer (TNBC) is defined by the lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER 2)/neu. It has been identified as an independent poor prognostic factor for survival. The aim of this study was to compare the clinico‑pathological characteristics and treatment outcomes of patients with TNBC and non‑TNBC. MATERIALS AND METHODS: We carried out an analysis of 706 patients with invasive breast cancer between January 2007 and December 2011 in whom information on the status of ER, PR, and HER2/neu were available. RESULTS: One hundred and fifty‑five patients (21.9%) patients had TNBC. Patients with TNBC had a significantly lower median age [46.2 vs. 49.8 years; P = 0.005, 95% confidence interval (CI): 0.98 to 2.38] and a higher proportion of high‑grade tumors as compared to the non‑TNBC group (43 vs. 24%; P < 0.0001). After a median follow‑up of 30 months, the three‑year relapse‑free survival (RFS) was significantly lower in the TNBC group (76 vs. 64%; log rank P = 0.002). Three‑year overall survival (OS) was lower in the TNBC group but not statistically significant. Age <49 years, higher nodal stage, and larger tumor size (>5 cm) were associated with poor outcome. CONCLUSION: TNBC is significantly associated with younger age and high‑grade tumors and constitutes 21.9% of all breast cancers in our institute. Triple negativity was a significantly poor prognostic factor for RFS but not OS.

Prevalence of ZAP-70 and CD 38 in Indian chronic lymphocytic leukemia patients.

Aim of Study: Chronic lymphocytic leukemia (CLL) is the most common chronic lympho-proliferative disorder. This study was undertaken to know the prevalence of ZAP-70 and CD 38 in the treatment naive patients of CLL seen at a tertiary care centre of north India. Materials and Methods: ZAP-70 and CD 38 were tested by flow cytometry on peripheral blood samples. ZAP-70 positive and CD 38 positivity was defined as positive expression on 20% and 30% of CLL cells, respectively. Clinico-hematological profile and its correlation with ZAP-70 and CD 38 were assessed in consecutive 80 CLL patients. Results: There were 64 males and median age of the group was 58 years. Sixteen patients (20%) were asymptomatic and diagnosed incidentally. Median total lymphocyte count (TLC) at presentation was 62 × 10 9 /L. Rai stage distribution was: Stage 0-6, stage I-20, stage II-36, stage III-5, and stage IV-13. ZAP-70 and CD 38 positivity were detected in 20 patients (25%) and 29 patients (36%), respectively. Eleven patients were positive and 34 were negative for both ZAP-70 and CD 38 yielding a concordance rate of 56%. There was no statistically significant difference between ZAP-70 and CD 38 positivity and negativity with regard to age, sex, Lymphocyte count, lymphadenopathy, organomegaly, and Rai staging. Conclusion: ZAP-70 and CD 38 positivity were detected 25% and 36%, respectively, with concordance rate of 56%, which is higher than Western literature. There was no correlation of ZAP-70 and CD 38 positivity with age, sex, lymphadenopathy, organomegaly, and Rai staging.

An experience with 156 patients attending a newly organized pain and palliative care clinic in a tertiary hospital.

Context: Pain and palliative care clinic (PCC). Aims: The primary object of this study was to enumerate the demographic characteristics of patients attending a newly organized PCC. The secondary purpose was to detect symptom prevalence and frequency of different cancers in these patients. Settings and Design: Prospective cross-sectional descriptive study. Materials and Methods: A prospective cross-sectional descriptive study was done on patients referred to the PCC of a tertiary hospital in North India. Comprehensive details of all patients were recorded systematically on the first visit on a proforma specially prepared for the newly established palliative care clinic. Statistical Analysis Used: The descriptive statistics of palliative care data was presented in terms of frequencies and percentages (%) for categorical variables. Results: The data collected at our PCC showed that out of 156 patients, 87 were males and 69 were females. Patients of all ages varying from 6 to 85 years were seen. Most patients (82.1%) lived with their families, and 28 (17.1%) patients lived alone and had no financial support. The most common primary diagnoses were head and neck cancers (38.5%), carcinoma cervix (15.4%), breast cancer (10.3%), colorectal cancer (6.4%), and lung cancer (4.5%). Frequency of seven most common symptoms was pain (100%), insomnia (64.1%), loss of appetite (34.6%), nausea (32.7%), vomiting (32.1%), constipation (31.4%) and sore mouth (28.8%). Conclusions: Population-based studies determine the actual magnitude of sufferers and suffering and show that palliative care services should be included as an essential component in a tertiary care hospital. The objective should be to reach out to the patient and help in improving the patent's quality of life in every way possible.

Absolute lymphocyte count: A cost-effective method of monitoring HIV-infected individuals.

Aim: Depletion of CD4 cell count is a hallmark of disease progression in AIDS. CD4 cell count is essential for physicians to decide about the timing of initiation of antiretroviral therapy (ART) and for prophylaxis of opportunistic infections. WHO has recommended that, absolute lymphocyte count (ALC) of ≤1200/μL can substitute CD4 cell count of ≤200/μL in resource-constrained countries throughout the world. Materials and Methods: This study was undertaken to know whether there is a correlation between CD4 cell count and ALC in HIV-infected individuals. A single sample of blood was withdrawn for ALC and CD4 cell count. The samples received from December 1, 2004 to December 31, 2005 were analyzed. Results: A total of 196 samples were collected from 185 patients. After exclusion, a total of 182 samples were analyzed. Results revealed that male:female ratio was 126:56 and their age ranged from 13 to 67 years. The median ALC was 1747 cells/μL, whereas the CD4 cell count ranged from 5 to 2848. The correlation coefficient between ALC and CD4 cell count was significant (0.714). There were 49 patients with an ALC of ≤1200/μL of whom 77.6% patients had CD4 cell count ≤ 200/μL (true positive) and 22.4% had CD4 cell count > 200/μL (false positive). There were 133 patients with an ALC of >1200/μL of whom 84.2% had CD4 cell count > 200/μL (true negative) and 15.8% had CD4 cell count ≤ 200/μL (false negative). Taking ALC of ≤1200/μL as a predictor of CD4 cell count ≤ 200/μL ,the sensitivity of the test was 64.4% and specificity was 91.1%. The positive predictive value was 77.6%, negative predictive value was 84.2%, and accuracy was 82.4%. Conclusion: We found that an ALC of ≤ 1520/μL has higher sensitivity (78%) for a CD4 cell count of ≤ 200/μL. The ALC was found to be significantly cost-effective in our setup but chances of missing out patients requiring ART was 1 in 5 using the WHO guidelines.