An intriguing high performance liquid chromatogram of a double heterozygosity for Hb Q-India/Hb D-Punjab.

Cation exchange high performance liquid chromatography (HPLC) is commonly utilized as the first method of screening for thalassemias and hemoglobinopathies worldwide. This method of diagnosis requires knowledge of the clinical background and complete blood counts as well as skill and experience in interpreting the sometimes complex results produced. An asymptomatic 27-year-old pregnant North Indian woman was found to have a highly unusual chromatographic pattern with multiple unexpected peaks during routine antenatal screening. Most concerning was a C-window peak as Hb C (HBB: c.19G>A) is rare in ethnic Asian Indian populations. Cellulose acetate electrophoresis at alkaline pH (8.6) and parental screening were performed. These revealed the correct diagnosis to be a double heterozygosity for Hb Q-India (HBA1: c.193G>C) (an uncommon asymptomatic α-globin chain variant) plus Hb D-Punjab (HBB: c.364G>C) (a ß-globin chain variant that is common in this region and is asymptomatic in the heterozygous state). The unexpected C-window peak was the hybrid of the abnormal α-Q-India and ß-D-Punjab globin chains. Another small peak was explained as a variant Hb A2 formed by the combination of α-Q-India and δ-globin chains. Hematopathologists should be cognizant of the complex pattern resulting from coinheritance of both α- and ß-globin structural variants. Second-line testing and parental testing are invaluable in resolving unknown peaks, especially if rare or unexpected variants are being considered. Although both Hb Q-India and Hb D-Punjab are relatively common in northwestern India, to the best of our knowledge, only two recent reports describe a total of three cases of such diagnostically puzzling coinheritance.

Benign granular cell tumor of the lung in a child--a case report.

Amongst the lung tumors, granular cell tumor (GCT), also known as granular cell myoblastoma, or Abrikossoff is one of the rarest tumors. Herein, we present a case of a 6-year-old male child who presented with a history of cough, fever and recurrent pneumonia due to a 8 × 5 × 3 cm GCT.

Malignant Mixed Germ Cell Tumors of the Ovary: A Series of Rare Cases.

BACKGROUND: Malignant mixed germ cell tumors of ovary are rare aggressive cancers affecting young adolescent girls. The commonest combination reported in literature is dysgerminoma and endodermal sinus tumors but in our study the most common combination was immature teratoma and endodermal sinus tumor which is exteremely rare. Preservation of future fertility is a concern. Fertility sparing surgery followed by combination chemotherapy is the current treatment of choice but treatment must be individualized depending upon the nature of the tumor. METHODS: A retrospective study on five patients with these tumors was conducted on patients at Guru Gobind Singh Medical College and Hospital (Punjab, India) between September 2009 to January 2018. RESULTS: Median age of patients was 15.6 years. Histopathological combination was immature teratoma and endodermal sinus tumor (n=3), endodermal sinus tumor and embryonal carcinoma (n=1), and mature and immature teratoma (n=1). Tumor markers AFP, beta HCG and LDH were raised in all except the patient with mature and immature teratoma. All patients underwent surgery followed by combination chemotherapy. Three patients developed metastasis within six months of treatment and died. In the remaining two, no reccurrence was reported till date. CONCLUSION: Malignant mixed germ cell tumors of ovary are extremely rare tumors and have poor prognosis. Fertility preservation is a concern as these patients are usually young adolescent girls but fertility sparing treatment must be individualized on the basis of tumor type, surgical staging, and availability of combination chemotherapy. Considering high recurrence rate and mortality, total hysterectomy with bilateral salpingo-oophorectomy with complete surgical staging followed by combination chemotherapy should be perfomed at advanced stage and aggressive tumor biology. Preservation of fertility must be held secondary.

Primary bilateral plasmablastic lymphoma of the testis in a human immunodeficiency virus positive man.

Human immunodeficiency virus (HIV)-related lymphomas are predominantly aggressive B-cells lymphomas. The most prevalent of the HIV-related lymphomas are diffuse large B-cell non-Hodgkin's lymphoma (NHL), which includes primary central nervous system lymphoma, and Burkitt lymphoma, whereas primary effusion lymphoma, plasmablastic lymphoma (PBL), and classic Hodgkin lymphoma are far less frequent. Of these, PBL is relatively uncommon and displays a distinct predilection for presentation in the oral cavity. In this manuscript, we report a primary testicular form of PBL in 44 year-old Border Security HIV positive patient who presented with bilateral testicular swelling of 1-year duration. On cytopathological and subsequent histopathological examination, the diagnosis of bilateral plasmablastic NHL was made. Extensive systemic work-up failed to reveal any disease outside the testes. Immune suppression rather than HIV itself is implicated in the pathogenesis of lymphomas. Herein, we report a case of PBL as AIDS-related malignancy presenting in testes and its correlation with CD4+ count.

Hodgkin lymphoma masquerading as tuberculosis in a young chronic smoker.

Hodgkin lymphomas are malignant hemato-lymphoid neoplasms involving lymph nodes and extra-nodal sites. Bone marrow infiltration at diagnosis is uncommon, occurring in approximately 10 % cases. Such infiltration, when present, is usually focal and often associated with extensive disease, systemic symptoms, cytopenias and unfavorable histology. In the unusual event of the absence of significant peripheral lymphadenopathy, these lymphoma-related B-symptoms may easily masquerade as an infectious illness. A 30-year-old male was initially administered inappropriate anti-tubercular chemotherapy in a primary care setting for a presumptive impression of pulmonary tuberculosis. On re-evaluation due to unresponsiveness to the drugs, bulky mediastinal lymphadenopathy was detected. However, his axillary lymph node aspirate revealed epithelioid cell granulomas further confounding the picture. The correct diagnosis of Hodgkin lymphoma was finally established when a bone marrow biopsy (for fever and pancytopenia) revealed the typical neoplastic Reed Sternberg cells that were confirmed immunohistochemically. The case highlights the necessity of an early bone marrow examination in patients with unexplained fever and peripheral blood cytopenias. Physicians in tropical third-world countries with resource constraints and high disease burdens need to strike a fine balance between maintaining a high index of suspicion for tuberculosis yet being wary of the risk of missing lymphoma in such patients.

Bronchial mucous gland adenoma presenting as massive hemoptysis: A diagnostic dilemma.

Mucous gland adenoma of the lung is an uncommon benign tumor that histologically resembles the mucus-secreting component of tracheobronchial gland. The majority arises within the main, lobar, or segmental bronchi but parenchymal involvement had also been reported. We herein present a case of mucous gland adenoma arising from the left lower lobe bronchus. The 32-year-old female presented with massive hemoptysis, productive cough, and dyspnoea and was clinically misdiagnosed as tuberculosis. Radiology proved to be inconclusive. This case highlights the importance of a complete lung work up in patients presenting with signs of respiratory tract infections.

A rare association of celiac disease and aplastic anemia: case report of a child and review of literature.

An association between severe aplastic anemia and other autoimmune diseases is rare and has been described in adults for eosinophilic fasciitis, thymomas, systemic lupus erythematosus, and thyroid disorders. Herein we report a patient with celiac disease who was not strictly following a gluten-free diet and presented with progressive pallor, fever, and weakness of 1 month's duration. On investigation, he had pancytopenia, which on subsequent evaluation revealed aplastic anemia. An association between aplastic anemia and celiac disease has rarely been reported. To the best of author's knowledge, only 1 pediatric case of celiac disease associated with aplastic anemia has been published. This is the second report to suggest such an association in children.

Diffuse perforated necrotising amoebic colitis with histoplasmosis in an immunocompetent individual presenting as an acute abdomen.

Perforated necrotising amoebic colitis associated with intestinal histoplasmosis has rarely been reported in an immunocompetent individual. Radiology and preoperative features are non-specific and requires histopathological examination for a definitive diagnosis. Hence, this condition needs to be considered in the differential diagnosis of complicated infective colitis.

Biochemical, histological, and memory impairment effects of chronic copper toxicity: a model for non-Wilsonian brain copper toxicosis in Wistar rat.

Animal models of copper toxicosis rarely exhibit neurological impairments and increased brain copper accumulation impeding the development of novel therapeutic approaches to treat neurodegenerative diseases having high brain Cu content. The aim of this study was to investigate the effects of intraperitoneally injected copper lactate (0.15 mg Cu/100 g body weight) daily for 90 days on copper and zinc levels in the liver and hippocampus, on biochemical parameters, and on neurobehavioral functions (by Morris water maze) of male Wistar rats. Copper-administered animals exhibited significantly decreased serum acetylcholinesterase (AChE) activity and impaired neuromuscular coordination and spatial memory compared to control rats. Copper-intoxicated rats showed significant increase in liver and hippocampus copper content (99.1 and 73 % increase, respectively), 40.7 % reduction in hepatic zinc content, and interestingly, 77.1 % increase in hippocampus zinc content with concomitant increase in copper and zinc levels in serum and urine compared to control rats. Massive grade 4 copper depositions and grade 1 copper-associated protein in hepatocytes of copper-intoxicated rats were substantiated by rhodanine and orcein stains, respectively. Copper-intoxicated rats demonstrated swelling and increase in the number of astrocytes and copper deposition in the choroid plexus, with degenerated neurons showing pyknotic nuclei and dense eosinophilic cytoplasm. In conclusion, the present study shows the first evidence in vivo that chronic copper toxicity causes impaired spatial memory and neuromuscular coordination, swelling of astrocytes, decreased serum AChE activity, copper deposition in the choroid plexus, neuronal degeneration, and augmented levels of copper and zinc in the hippocampus of male Wistar rats.

Primary chondrosarcoma of male breast: a rare case.

Sarcomas of the breast are relatively rare and account for 1% of all primary malignant tumors of the breast. Pure and primary chondrosarcoma of the male breast is an extremely rare tumor. It may arise either from the breast stroma itself or from underlying bone or cartilage. Differential diagnoses include cystosarcoma phyllodes and breast metaplastic carcinoma with chondroid differentiation.