Background: Line probe assay (LPA) is standard diagnostic tool to detect multidrug resistant tuberculosis. Noninterpretable (NI) results in LPA (complete missing or light wild-type 3 and 8 bands with ...no mutation band in rpoB gene region) poses a diagnostic challenge.
Methods: Sputum samples obtained between October 2016 and July 2017 at the Intermediate Reference Laboratory, All India Institute of Medical Sciences Hospital, New Delhi, India were screened. Smear-positive and smear-negative culturepositive specimens were subjected to LPA Genotype MTBDRplus Ver 2.0. Smear-negative with culture-negative and culture contamination were excluded. LPA NI samples were subjected to phenotypic drug susceptibility testing (pDST) using MGIT-960 and sequencing.
Results: A total of 1,614 sputum specimens were screened and 1,340 were included for the study (smear-positive n=1,188 and smear-negative culture-positive n=152). LPA demonstrated 1,306 (97.5%) valid results with TUB (Mycobacterium tuberculosis) band, 24 (1.8%) NI, three (0.2%) valid results without TUB band, and seven (0.5%) invalid results. Among the NI results, 22 isolates (91.7%) were found to be rifampicin (RIF) resistant and two (8.3%) were RIF sensitive in the pDST. Sequencing revealed that rpoB mutations were noted in all 22 cases with RIF resistance, whereas the remaining two cases had wild-type strains. Of the 22 cases with rpoB mutations, the most frequent mutation was S531W (n=10, 45.5%), followed by S531F (n=6, 27.2%), L530P (n=2, 9.1%), A532V (n=2, 9.1%), and L533P (n=2, 9.1%).
Conclusion: The present study showed that the results of the Genotype MTBDRplus assay were NI in a small proportion of isolates. pDST and rpoB sequencing were useful in elucidating the cause and clinical meaning of the NI results.
Cutaneous angiosarcoma is a rare vascular tumour especially of elderly males. We present a rare case of elderly female who presented with scalp lesion, parotid swelling and posed a diagnostic ...challenge. Further work up including biopsy of the lesion revealed the diagnosis of cutaneous angiosarcoma. Rarity of the case due to presence of this rare tumour in a darkcolored female and wide spread presentation of the tumour prompted us to report the case. This case adds to the literature of few cases describing this rare tumour in Indian subcontinent. It attempts to alert the clinicians of this entity, as early diagnosis of the tumour may possibly improve the already known dismal prognosis!
Invasive central nervous system (CNS) aspergillosis is acquired by either hematogenous dissemination or direct spread from a sinus infection. We describe a series of nine patients with CNS ...aspergillosis from a tertiary care teaching institute in North India who were treated with voriconazole alone or in combination with surgery. All patients who had clinical and radiological features consistent with fungal CNS infection, showed the presence of septate hyphae on histopathology/microscopy and were either culture positive for Aspergillus spp. or had serum galactomannan positivity were diagnosed as CNS aspergillosis. Clinical features, risk factors, diagnostic modalities, treatment details and outcome at last follow-up were recorded for all patients diagnosed with CNS aspergillosis. A total of nine patients were diagnosed with CNS aspergillosis. The median duration of presentation at our hospital was six months (IQR-2-9 months). Six patients had concomitant sinus involvement, while two patients had skull-base involvement as well. All patients were treated with voriconazole therapy, and three of these patients underwent surgery. All but one patient survived at the last follow-up (median duration was 14 months (IQR- 8-21.5). Two patients had complete resolution, and voriconazole was stopped at the last follow-up, and the rest of the patients were continued on voriconazole. Of the six patients who were continued on voriconazole, all but one had more than 50% radiological resolution on follow-up imaging. Invasive CNS aspergillosis is an important cause of CNS fungal infection that is often diagnosed late and requires long-term voriconazole-based therapy.
A 54-year-old female, known case of hypertension and diabetes mellitus (controlled), was admitted with prolonged fever for 1½ months. On evaluation, fever workup was inconclusive and multiple ...cultures were negative. On re-assessment of history, she gave a history of cardiac catheterization 1 month back. Further evaluation revealed aortic valve vegetation on two-dimensional echo with raised beta-D glucan levels. She was managed with antifungal therapy followed by valve replacement surgery. The patient improved following the management and is doing fine. This case highlights the importance of detailed history-taking and evaluation. It also highlights the not uncommon occurrence of fungal endocarditis in patients with healthcare contact and the role of biomarkers as surrogate in case of culture-negative endocarditis.
Fungal rhinosinusitis is not very uncommon in diabetic patients, but Scedosporium apiospermum as a cause of this infection is rare. We report a case of fungal rhinosinusitis by Scedosporium spp. in a ...diabetic male along with literature review. The patient is on voriconazole, with adequate therapeutic response after 6 months of follow up.
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare fatal autosomal recessive disorder of immune dysregulation. The disease presents most commonly in the first year of life; however, ...symptomatic presentation throughout childhood and adulthood has also been identified. Biallelic mutation in the
gene is present in 20%-50% of all cases of FHL. Secondary hemophagocytic lymphohistiocytosis (HLH) in association with hematological malignancies is known; however, whether mutations in HLH-associated genes can be associated with FHL and hematolymphoid neoplasms is not well documented. Also, Epstein-Barr-virus- (EBV) positive systemic T-cell lymphoproliferative disease (SE-LPD) in the setting of FHL is not clearly understood. Here, we present the case of a young boy who presented with typical features of childhood FHL harboring the perforin gene (
) mutation, and had SE-LPD diagnosed on autopsy, along with evidence of recent EBV infection. The patient expired due to progressive disease. Five siblings died in the second or third decade of life with undiagnosed disease. Genetic counseling was provided to the two surviving siblings and parents, but they could not afford genetic testing. One surviving sibling has intermittent fever and is on close follow-up for possible bone marrow transplantation.
Nipah virus, an enveloped ribonucleic acid virus, has been a major cause of encephalitis out- breaks with high mortality, primarily in the Indo-Bangladesh regions. Except for the first outbreak in ...Malaysia-Singapore, which was related to contact with pigs and the outbreak in Philippines associated with horse slaughter, most other outbreaks have affected the Indo- Bangladesh regions. The Indo-Bangladesh outbreaks were associated with consumption of raw date palm sap contaminated by fruit bats and had a very high secondary attack rate. The patient usually presents with fever, encephalitis and/or respiratory involvement with or without thrombocytopenia, leukopenia and transaminitis. Diagnosis can be confirmed by isolation and nucleic acid amplification in the acute phase or antibody detection during the convalescent phase. Treatment is mostly limited to supportive care and syndromic management of acute encephalitis syndrome. Ribavirin, m102.4 monoclonal antibody and favipiravir are the only anti-virals with some activity against Nipah virus. Standard precautions, hand hygiene and personal protective equipments are the cornerstone of comprehensive infection prevention and control strategy. With the recent outbreaks affecting newer geographical areas, there is a need for physicians to be aware of this disease and keep abreast of its current detection and management strategies.
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