Philadelphia chromosome- positive myelodysplastic syndrome with single lineage dysplasia.

Myelodysplastic syndrome (MDS) is a group of acquired clonal disorders characterized by dysplastic and ineffective hematopoiesis in the bone marrow. Various specific karyotypic and molecular abnormalities associated with MDS further guide the prognosis. Although translocation t(9;22)(q34;q11) (Philadelphia positive [Ph+]) and corresponding BCR-ABL fusion transcript are classically defined to differentiate CML from non-CML myeloproliferative disorders, it is also associated with adult acute lymphoblastic leukemia (Ph+ ALL), acute myeloid Leukemia (Ph+ AML), myelodysplastic syndrome (Ph+ MDS). The occurrence of Ph+ MDS is very uncommon, and a review of literature has shown by far 40 cases so far in which the majority are seen on progression to Leukemia. Few had de novo presence of such chromosomal abnormality. Due to its rarity, this entity has not yet found its space in the current WHO classification. Also, the role of tyrosine kinase inhibitors in such a scenario is still debatable. We found two such cases of de novo Ph+ MDS diagnosed at institute of medical sciences, Banaras Hindu university and a brief literature review.

Clinicopathological Profile of the von Willebrand Disease in a Tertiary Care Centre in Varanasi.

Objective The von Willebrand disease (vWD) is one of the most common inherited bleeding disorders in India; however, the diagnostic tests and its interpretation require specialized laboratory and personnel which are not readily available in the eastern part of North India. The purpose of this study is to estimate the relative prevalence of vWD and study the clinical and laboratory features including advanced diagnostic tests. Methods All patients referred to the pathology department for evaluation of bleeding were evaluated for vWD during a period of 4 years. Clinical and laboratory features were analyzed and reported. Results A total of 1,126 cases of bleeding manifestations were evaluated, and 237 cases of inherited bleeding disorders were diagnosed; vWD was diagnosed in 38 (16%) of these 237 cases. Advanced diagnostic tests were done in all of these cases. Conclusion The vWD is among the most common inherited bleeding disorders in the country, second only to hemophilia A. Type-1 vWD was the most frequent with 25 cases (65.7%), followed by type-2N with 7 cases (18.4%).

Indian Society of Hematology and Blood Transfusion (ISHBT) Consensus Document on Hematological Practice During COVID-19 Pandemic.

The SARS-CoV-2 (COVID-19) pandemic is a worldwide public health emergency with widespread impact on health care delivery. Unforeseen challenges have been noted during administration of usual haematology care in these unusual COVID-19 times. Medical services have been overstretched and frontline health workers have borne the brunt of COVID-19 pandemic. Movement restrictions during lockdown prevented large sections of population from accessing health care, blood banks from holding blood drives, and disrupted delivery of diagnostic hematology services. The disruption in hematology care due to COVID-19 pandemic in India has been disproportionately higher compared to other subspecialities as hematology practice in India remains restricted to major cities. In this review we chronicle the challenges encountered in caring for hematology patients during the COVID-19 pandemic in India and put forth recommendations for minimizing their impact on provision of hematology care with special emphasis on hematology practice in lower and middle income countries (LMICs).

Case Report: Histoplasmosis Accompanying Disseminated Tuberculosis in an Immunocompetent Adolescent Boy.

The incidence of tuberculosis in India is quite high. In such a situation, empirical antitubercular therapy (ATT) is often resorted to, when some of the investigation findings are clearly diagnostic of tuberculosis. This may mean missing out on coinfections. Whereas this is particularly true for immunosuppressed patients, rarely even immunocompetent patients may present with such diagnostic dilemmas. We present the case of an adolescent boy who had been previously asymptomatic and who presented with fever with lymphadenopathy, splenomegaly, and pancytopenia. Initially, ATT was administered based on the detection of acid-fast bacteria in lymph node, caseating granulomas with Langhans giant cells, and a positive cartridge-based nucleic acid amplification test specific for Mycobacterium tuberculosis. However, when the patient failed to respond fully to the treatment, additional investigation in the form of bone marrow fungal culture led to the diagnosis of histoplasmosis.

Idiopathic Fatal Pancytopenia: A Case Report.

Pancytopenia is defined as decrease in red blood cells, white blood cells and platelets. Many disease processes involve the bone marrow primarily or secondarily resulting in pancytopenia. A 55-year-old male presented with generalized body weakness and few episodes of malena for last one year. Physical and systemic examination was unremarkable. CBC report revealed pancytopenia. Other haematological parameters were within normal limit. Stool for occult blood was positive. USG and CECT abdomen showed no abnormality. The patient was evaluated for any evidence of malignancy but no clue was found. Bone marrow examination was done as patient was having pancytopenia. Bone marrow smears, clot sections and bone marrow biopsy was normal. Immunohistochemistry and cytogenetics study was unremarkable. Patient was admitted in hospital for 1 month and his condition rapidly deteriorated. The cause of pancytopenia remained unexplained and therefore it was named as Idiopathic fatal pancytopenia. "Idiopathic Fatal Pancytopenia (IFP)" is an emerging new entity with a grave prognosis. We wish to sensitize the medical community and the scientists to this rapidly fatal condition.

Value of bone marrow imprint smears in early diagnosis of bone marrow pathologies.

BACKGROUND: Examination of bone marrow plays a pivotal role in the practice of haematology. It can be evaluated by three ways-bone marrow aspiration (BMA), bone marrow touch imprints (BMI) and bone marrow biopsy (BMBx). AIM AND OBJECTIVE: To study the efficacy and reliability of BMI smears in comparison to BMA smears, in making a diagnosis of diseases involving bone marrow. Setting and Designs: This study was carried out in the Department of Pathology, Institute of Medical Sciences, Varanasi over a period of 26 months. MATERIALS AND METHODS: A total number of 182 cases, with their BMA, BMI and BMBx samples (from each and every case), were evaluated and their findings even compared. STATISTICAL ANALYSIS: All the observations were evaluated using simple and basic statistical tool, i.e. percentage. RESULTS: The cellularity or cell density on BMI correlated with the cellularity of BMBx in 78.6% cases, which was higher than the value observed with BMA smears (71.4%). The spreading quality was better and cytological details were better appreciated in BMI as compared to BMA. Also, the presence of lymphoglandular bodies and particles on BMI were additive diagnostic clues. All of those findings were reflected in the higher diagnostic accuracy of BMI than BMA. CONCLUSION: BMI should be a standard practice and be considered as an early and reliable diagnostic tool for evaluating bone marrow pathologies.

Floatation of decalcified bone marrow core biopsy - a clue to marrow hypocellularity.

UNLABELLED: Background : Examination of bone marrow plays a pivotal role in the practice of haematology. It can be evaluated by three ways - bone marrow aspiration smears (BMA), bone marrow touch imprints (BMI) and bone marrow biopsy (BMB). BMB sections are considered to be the gold standard for assessing overall marrow cellularity. AIM AND OBJECTIVE: To evaluate the correlation, if any, between bone marrow cellularity and floatation pattern of the core biopsy specimen, after proper decalcification. SETTING AND DESIGN: This study was carried out in the Department of Pathology, Institute of Medical Sciences, Varanasi over a period of 26 months. MATERIALS AND METHODS: Specimens of BMA, BMI and BMB were collected from 182 cases. The core biopsy specimens were fixed in 10% buffered formalin for 24 hours, and were decalcified in 5% formic acid for 12 hours. The properly decalcified core biopsy samples were then put into adequate-sized container filled with 10% buffered formalin, and floatation pattern was documented. STATISTICAL ANALYSIS: All the observations were evaluated using simple and basic statistical tools, i.e. sensitivity, specificity, positive predictive value. Chi square test was applied for obtaining statistical correlation i.e. p-value. RESULTS: Out of 182 core biopsy specimens, 32.4% (n=59) floated, while rests sank. Out of the 59 floating core biopsies, 57 were hypocellular. Seven core biopsies, among 123 specimens that sank, were hypocellular. The sensitivity and specificity of floatation pattern for hypocellular marrow were 89.2% and 99.1%, respectively. A strong correlation (p-value <0.001) between the floatation pattern and bone marrow cellularity was obtained. CONCLUSION: Assessment of floatation pattern of properly decalcified marrow core specimen is reliable for assessing marrow hypocellularity.

Primary cerebral nocardiosis in a renal transplant recipient: a case report.

Nocardial brain abscess is a rare central nervous system infection. A 50 year old renal transplant recipient developed a nocardial cerebral abscess. It manifested clinically with pyrexia of unknown origin, recurrent episodes of convulsions and a right sided hemiparesis. The purulent material was drained and sent to the Microbiology Laboratory for culture and sensitivity studies. Direct microscopy and culture confirmed the diagnosis of nocardial infection.

Immunosuppressive therapy in aplastic anemia.

OBJECTIVE: To assess the response to antithymocyte globulin based immunosuppressive therapy (IST) in pediatric patients with idiopathic aplastic anemia. METHODS: Thirty patients (19 boys and 11 girls) with aplastic anemia received antithymocyte globulin and cyclosporine. Twenty-two patients had severe and 8 had very severe aplastic anemia. RESULTS: Mean age of the patients was 9.19 ± 2.56 y. Three patients died within 1 mo of therapy, two due to sepsis and one due to intracranial hemorrhage. Twenty-seven patients were analyzed for response to therapy. Eight patients (29.7%) responded at 3 mo: 3 complete response (CR) and 5 partial response (PR). Six mo after the therapy, overall response (OR) was seen in 9/27 (33.3%), with one more patient in no response group achieving partial response. At 1 year, patients in CR maintained their status and 1 patient in PR group relapsed. He again achieved partial response with repeat course of ATG. Responders had significantly shorter duration of illness and higher absolute neutrophil count as compared to non responders to IST. None of the patients developed acute leukemia in the follow up. CONCLUSIONS: The treatment of aplastic anemia in pediatric patients is a challenging task. One third of the patients achieved overall response which included both complete and partial response.

Primary amoebic meningo-encephalitis due to Naegleria fowleri.

Primary amoebic meningo-encephalitis is a fulminant, often rapidly fatal infection affecting individuals with a recent history of swimming in warm fresh water. A fatal case of primary amoebic meningoencephalitis due to Naegleria fowleri in a 35 years old male suffering from human immunodeficiency virus with pulmonary tuberculosis infection is reported. Naegleria fowleri was diagnosed by wet mount examination of cerebrospinal fluid and the diagnosis was confirmed by culture of the cerebrospinal fluid on non-nutrient agar layered with Escherichia coli. The patient was treated with amphotericin B and antituberculous treatment but the outcome was fatal. Primary amoebic meningo-encephalitis should be suspected in every case of pyogenic meningo-encephalitis in which no bacteria or fungus is found on cerebrospinal fluid examination.

Mycotic keratitis in India: a five-year retrospective study.

BACKGROUND: Mycotic keratitis is a fungal infection of the cornea. This infection is difficult to treat and it can lead to severe visual impairment or blindness. It is worldwide in distribution, but is more common in the tropics and subtropical regions. Trauma is the major predisposing factor, followed by ocular and systemic defects, prior application of corticosteroids, and prolonged use of antibiotic eye-drops. The objective of this study was to determine causative agents and to identify the predisposing factors of mycotic keratitis. METHODOLOGY: Corneal scrapings from 90 corneal ulcer patients with suspected fungal etiology were subjected to direct examination by 10% KOH mount, Gram stain and culture. RESULTS: This study included 90 subjects with corneal ulcers, based on clinical suspicion, of whom 41 cases were diagnosed with mycotic keratitis in the laboratory. Among these 41 cases, culture showed fungal growth only in 36 cases whereas the remaining five cases were positive only by potassium hydroxide (KOH) preparation. Males were more commonly affected and were mostly in the age group of 31-40 years. Aspergillus flavus was the most common fungus isolated followed by fusarium solani. CONCLUSION: Rapid diagnosis and early institution of antifungal therapy is necessary to prevent ocular morbidity and blindness. Although culture helps in definite diagnosis and identification, direct microscopic detection of fungal structures in corneal scrapes or biopsies permits a rapid presumptive diagnosis.

Cutaneous zygomycosis: a possible postoperative complication in immunocompetent individuals.

Fungi in the class of zygomycetes usually produce serious infections in diabetics and immunocompromised hosts. Cutaneous zygomycosis is a less common form, with an unpredictable extent of anatomical involvement and clinical course. Here, we report two cases of primary cutaneous zygomycosis as postoperative complications in otherwise healthy females. Zygomycosis was suspected and specimens from the surgical debridement were examined by microbiological and histopathological studies for confirming the clinical diagnosis. Rapid diagnosis, liposomal amphotericin B, and proper debridement of affected tissue are necessary to avoid a fatal outcome.

Cryptococcal meningitis with an antecedent cutaneous Cryptococcal lesion.

Cutaneous cryptococcosis, caused by an encapsulated yeast, Cryptococcus neoformans, is generally associated with concomitant systemic infection. Here we report a case of primary cutaneous cryptococcosis with spread to central nervous system in an HIV seronegative young boy. In the present case, a 17-year-old boy who was suffering from a non-healing ulcer on his right great toe for 5 months, presented with the signs and symptoms of meningitis. Cryptococcus neoformans var. gattii was isolated from the CSF of the patient. Amphotericin B administration produced recovery from the meningitis as well as from the ulcer. This case study suggests that primary cutaneous cryptococcosis can be diagnosed provisionally by a simple Gram stained smear and India ink examination in order to avoid occurrence of disseminated cryptococcosis, including meningial involvement, which may have a fatal outcome.

A case of Actinomycotic mycetoma involving the right foot.

A 45-year-old male presented with history of multiple swellings over the foot with sinuses discharging seropurulent pus. Actinomadura madurae was demonstrated and identified by microbiological culture from the pus obtained directly of the lesion. This case is reported to emphasize the importance of laboratory diagnosis in the management and assessment of the prognosis of such cases.

Evaluation of different serological techniques in laboratory diagnosis of brucellosis.

Diagnosis of brucellosis is vital for early institution of proper therapy as untreated cases may progress to chronic stage. Though the demonstration of the causative agent in blood is considered as the most conclusive test in the diagnosis of brucellosis, isolation of brucella organism by blood culture is relatively low. Hence a number of sensitive and rapid serological tests have been introduced for the diagnosis of brucellosis. In the present study, an attempt was made to compare the efficacies of existing serological tests such as agglutination reaction with newer rapid tests which help in the detection of either specific antigen or antibody. The study included specimens from 80 patients clinically suspected to be suffering from brucellosis and 20 apparently healthy controls. All serum samples were subjected for evidence of brucellosis by five serological tests viz, standard tube agglutination test, 2-mercaptoethanol test, modified antiglobulin test, counter immuno-electrophoresis and passive haemagglutination test for antibody detection and two serological tests viz, counter immunoelectrophoresis and latex agglutination test for antigen detection. Eighty blood samples were processed for microbiological evidence of brucellosis and yielded only 8 isolates of Brucella melitensis of biotype 1. By standard tube agglutination test, 25 sera showed titre of brucella agglutinins equal to more than the diagnostic titre (i.e., more than or equal to 160 IU). Counter immuno-electrophoresis test and latex agglutination showed presence of antigen in 3 and 4 blood culture negative cases respectively.

Pulmonary nocardiosis presenting as fungal ball--a rare entity.

Pulmonary intracavitary infection caused by Nocardia is an opportunistic infection and is believed to be a rare entity. We describe a case report of a patient with culture positive Nocardia asteroides who presented with complaints of cough and expectoration with episodes of haemoptysis and dyspnoea. The diagnosis of nocardiosis was made by microscopic examination of the surgically resected portion of the lung and confirmed on culture.

Pulmonary fungal ball in non-immunocompromised patient: a case report.

Fungal ball caused by Aspergillus species is an opportunistic infection. We describe a case report of a patient with culture positive Aspergillus fumigatus who presented with complaints of cough and expectoration with recurrent episodes of haemoptysis. Tuberculosis is the commonest cause of haemoptysis in India. However fungal ball is also one of the leading cause of haemoptysis. Hence laboratory evaluation of haemoptysis should not only include work up for tuberculosis but sample should also be submitted for mycological evaluation.

Hepatocellular carcinoma presenting as neutrophilic leukaemoid reaction--a rare entity.

Leukaemoid reaction is a rare, growth factor-driven, paraneoplastic manifestation of hepatocellular carcinoma. It may masquerade as the neutrophilic chronic myeloid leukaemia or as chronic neutrophilic leukaemia. A 52-year-old male presented with hepatosplenomegaly and severe leucocytosis. He had progressive leucocytosis, neutrophil alkaline phosphatase score elevated, liver function tests altered. FNAC from the mass in the liver revealed features of moderately differentiated hepatocellular carcinoma. The patient deteriorated within two weeks and died thereafter.