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Byline: Rabi. Sahu, A. Jaiswal, M. Sharma, S. Behari, V. Jain Sir, A 33-year-old lady presented with progressive diplopia, left hemifacial numbness, and left side chewing difficulty of eight years [...]

Byline: M. Sharma, S. Gulati, S. Atri, R. Seth, V. Kalra, T. Das, C. Sarkar Nemaline rod myopathy (NM) is a rare form of congenital myopathy characterized by slowly progressive [...]

Byline: M. Sharma, R. Mannan, N. Singh, S. Gulati, V. Kalra, Chitra. Sarkar BACKGROUND: Limb girdle muscular dystrophy (LGMD) is a phenotypic expression of a heterogeneous group of diseases and [...]

Background: IgG4-related disease is an autoimmune process that presents with tumefactive lesions characterized by storiform fibrosis, a dense lymphoplasmacytic infiltrate rich in IgG4+ plasma cells, obliterative phlebitis, and often elevated serum IgG4 levels. Central nervous system IgG4-related disease is very rare and usually occurs in the form of hypertrophic pachymeningitis or hypophysitis. Presentation as a large solitary meningioma-like mass with overlying hyperostosis in a young adult has not been reported before. Case summary: A 16-year-old male presented with focal seizures for 5 months. Imaging showed a large, extra-axial, and contrast-enhancing mass lesion in the left frontoparietal region with focal calvarial thickening. Histopathology revealed a fibrosclerotic lesion involving dura with a polymorphic infiltrate of plasma cells, mature lymphocytes, histiocytes, and occasional eosinophils. Immunohistochemical workup excluded the possibilities of meningioma, lymphoproliferative neoplasms, and histiocytic lesions. Majority of plasma cells were IgG4+ rendering a diagnosis of IgG4-related disease. Further serological and imaging workup did not reveal any evidence of systemic involvement. His serum IgG4 levels were normal. Considering a gross total resection of the lesion, no further treatment was given and the patient has been asymptomatic since. Conclusion: IgG4-related lesions of the CNS are under-recognized and accurate diagnosis, especially in those with isolated CNS disease and normal serum IgG4 levels, necessitates robust histopathological and laboratory workup to exclude mimics. They may occur as large dural masses with hyperostosis and differentiation from lymphoplasmacyte-rich meningiomas, in particular, can be challenging. While steroids are the mainstay of treatment in IgG4-related disease, surgical resection may be curative in solitary lesions presenting with compressive symptoms. [ABSTRACT FROM AUTHOR]

Secondary head and neck lymphedema (SHNL) is a chronic condition affecting patients who have undergone treatment for head and neck cancers. It results from the disruption of normal lymphatic flow by surgery and/or radiation. The incidence of secondary head and neck lymphedema varies anywhere between 12 and 54% of all patients treated for head and neck cancer, but it is still commonly under-diagnosed in routine clinical practice. In spite of awareness of this condition, treatment has been difficult as definitive staging, diagnostic, and assessment tools are still under development. This review article is aimed at looking at the evidence, standards of management, and deficiencies in current literature related to SHNL to optimize management of these patients and improve their quality of life. [ABSTRACT FROM AUTHOR]

Background: Medical informatics has observed an unrestrained growth in the database. Latest advancements in the field of medical sciences have wiped out lots of critical diseases. Nowadays, the medical industry is affluent in data sources. These data sources are of use only if these are effectively analyzed on time. Methods: Data mining techniques are artificially intelligent and used to investigate known and unknown patterns available in the medical databases. Nowadays, data mining techniques are chronically used to mine abundant data sources of medical science. This paper explores the practice of diverse data mining techniques, the role of dataset used, effect of preprocessing, and the performances of different data mining techniques in diagnosis of different lifestyle based diseases. The venture of this paper is to fetch out stark assessments of different data mining techniques used in medical sciences. Results : By far, surveillance discloses that significant effort has been made for mining the data allied to the Cardiology and Diabetes. As per Google Scholar, in last seven years, the percentage of articles published related to cardio, diabetes, digestive, dentistry and ophthalmology disease diagnosis using data mining are 42%, 26%, 18%, 10% and 4% respectively. So, a little attention has been paid to develop predictive model for the diseases viz. ophthalmology, dentistry and digestive disorders. In addition, the rate of usage of preprocessing in diagnosis of different disorders related to cardio, diabetes, digestive, dentistry and ophthalmology lies between 10.65%–17.75%, 8.48%–14.80%, 4.58–8.93%, 2.96%–7.73% and 5.83%–12.93% respectively. Conclusion: An attention is obligatory to develop smart diagnostic system to aware and save human masses from wide critical spectrum of diseases related to ophthalmology, oral and digestive systems. [ABSTRACT FROM AUTHOR]

Classical theory is still inadequate to properly handle the uncertainty of failure data. In real life situation the classical theory is insufficient to covers up the deficiency caused due to the uncertainty in sampling, collection of data and variation in data. Fuzzy logic covers up the deficiency caused due to the above factors and the grading in membership function. Present paper aims to applying the fuzzy methodology to a case study that was undertaken in two randomly selected community developed blocks of Uttar Pradesh. The major objective of the study was to analyze the iodine deficiency disorders in two areas of Uttar Pradesh, one endemic and one non-endemic and to compare prevalence of Goiter in the two areas of study. [ABSTRACT FROM AUTHOR]

The present investigation involved study of Johne's disease in Magra and Marwari sheep of CSWRI, ARC, Bikaner farm, by employing microscopic examination of faecal smears stained by ZN method of acid fast staining and bacterial culture. Out of 588 sheep (533 of Magra and 55 of Marwari breed) 76 (12.92%) animals were found positive for presence of AFB in faeces. A remarkable difference was found among the number of animals passing AFB in their excreta, in Magra flock 76 (14.25%) animals were shedding AFB in faeces while in Marwari flock none of the animals was positive for presence of AFB. The animals were found in different stages of the disease shedding low to very high quantum of AFB in the faeces. This study indicates that as the disease progress, quantum of AFB in faeces increases and simultaneously consistency of faeces also changes from normal to soft pellet at first and latter becoming semi solid and in advance stages diarrhoea is seen. The maximum proportion of animals found positive for presence of AFB in faeces was in the age group of 4-5 years followed by 6-7 and 7-8 years. Whereas, in age group below one year only one animal was shedding AFB in the faeces. The overt clinical signs of the disease were shown by 19 animals. Five animals died of the disease revealed presence of AFB in intestinal mucosal scrappings and in smears from mesenteric lymph nodes. The causative organisms could be cultivated only in four samples (out of total 38) after incubation period of around 13-15 weeks. However, the growth becomes visible within 6-8 week of incubation which becomes luxuriant on subsequent incubations. Out of 4 cultures 3 were showing white, small, moist, convex irregular colonies. In one culture yellow coloured colonies were seen. [ABSTRACT FROM AUTHOR]

Background:Rhabdomyosarcoma is a malignant mesenchymal neoplasm rarely diagnosed in the larynx. Traditionally, it has been treated by radical surgery (i.e. total laryngectomy), followed by radiation and/or chemotherapy. Recent advances suggest that it may be treated with combination therapy comprising high-dose radiation and pulse chemotherapy, with a high success rate.Case report:We report the first documented case of subglottic embryonal rhabdomyosarcoma in an adolescent female treated with chemoradiation alone, and review the literature reflecting a move towards organ preservation.Conclusion:While surgery has been successfully used to treat this neoplasm, combination therapy, as described in our study, also seems effective and has the added advantage of preserving laryngeal function. [ABSTRACT FROM PUBLISHER]

Adenosine deaminase activity (ADA) is a commonly used marker for the diagnosis of pulmonary tuberculosis (PTB). There have been concerns about its usefulness in immune-compromised pa-tients, especially HIV positive patients with very low CD4 counts. The objective of this study was to evaluate the sensitivity of ADA in HIV sero-positive patients having low CD4 counts, and compare it with its sensitivity in HIV sero-negative patients. Suspected tubercular patients on the basis of clinical and radiolog-ical grounds were subjected to laboratory diagnosis for confirma-tion of pulmonary tuberculosis and HIV status after an informed consent. Each patient was evaluated for serum adenosine deami-nase activity (ADA) (by the sensitive colorimetric method de-scribed by Guisti), HIV (by Enzyme linked immune sorbent assay (ELISA) test), and CD4 counts. Out of a total 150 PTB patients, 120 were HIV sero-negative and 30 were HIV sero-positive. In HIV sero-positive PTB patients, the overall sensitivity, specificity, posi-tive predictive value and negative predictive value of ADA was 93%, 95%, 96%, and & 90% respectively, as compared to 95%, 95%, 99% and 76% in HIV in sero-negative PTB. The mean ADA value was 87.1+36.24 in HIV patient with CD4 count >200 cell/microL (mean CD4 count 245 cell/microL), as compared to 71.32+36.35 in patients with CD4 count <200 cell/microL (mean CD4 count 86 cell/microL) which is statistically not significant (p-value > 0.05). There was no correlation between ADA activity and CD4 count (r = -0.460, p< 0.05). We concluded that ADA analysis is a sensitive marker for diagnosis of pulmonary tuberculosis even in HIV patients with very low CD4 counts especially in a high TB endemic region, like India. [ABSTRACT FROM AUTHOR]

Jain A, Sharma MC, Sarkar C, Bhatia R, Singh S, Gulati S, Handa R. Detection of the membrane attack complex as a diagnostic tool in dermatomyositis. Acta Neurol Scand: 2011: 123: 122-129. © 2010 John Wiley & Sons A/S. Currently there is no reliable diagnostic marker to distinguish between the subgroups of idiopathic inflammatory myopathies (IIMs), i.e. dermatomyositis (DM), polymyositis (PM) and inclusion body myositis (IBM). Membrane attack complex (MAC) has been shown to be involved in the pathogenesis of dermatomyositis but its role as a diagnostic marker has not been evaluated. To assess the diagnostic utility of MAC deposition in distinguishing dermatomyositis from other neuromuscular disorders. Immunohistochemical detection of MAC deposition on endomysial microvessels was carried out on 127 muscle biopsies comprising of 21 cases of dermatomyositis, 42 other IIMs and 64 non-IIM neuromuscular diseases. MAC deposition showed a high sensitivity (80.9%) and specificity (85%) to differentiate DM from other IIMs. Its specificity was higher (98.4%) in discriminating DM from non-IIM muscular diseases and IIM from non-IIMs. MAC deposition can serve as a reliable marker to distinguish DM from other IIMs (i.e. PM and IBM) as well as from non-IIM diseases. It can also serve as a useful adjunct in diagnosis of IIMs when there is diagnostic dilemma with their morphologic similarities. These results provide further credence to the long-standing view that MAC-mediated capillary destruction is involved in the immunopathogenesis of DM. [ABSTRACT FROM AUTHOR]

Parasitic infestations of the breast are uncommon. They may occur as a part of generalized disease, or present as primary breast infestations, making diagnosis difficult. Clinically, they are difficult to differentiate from the more common breast pathologies. However, imaging plays an important role, and different modalities often help distinguish and diagnose these rare conditions. [ABSTRACT FROM AUTHOR]

A 36-year-old female patient presented with a massive painless swelling in the left mandible. The patient's medical history was unremarkable. The initial clinical and radiological evaluation indicated an aggressive odontogenic neoplasm or a metastasis from an unknown primary; the suspicion of a systemic metabolic or endocrine disorder lay low on the list of differential diagnoses. Further investigations revealed gross skeletal changes and a hypoechoic right parathyroid mass. The total serum parathyroid hormone levels and ultrasound-guided fine needle aspiration cytology (FNAC) of the mandibular and parathyroid lesions provided the diagnosis of primary hyperparathyroidism presenting as a mandibular brown tumour. This case thus highlights the importance of a thorough diagnostic work-up for all lesions in the maxillofacial region and also serves to add another facet to the myriad of presentations associated with primary hyperparathyroidism. [ABSTRACT FROM AUTHOR]

Primary systemic or AL amyloidosis is a multisystem disorder characterized by diffuse extracellular infiltration of a fibrillar protein of monoclonal light chain origin (AL). Majority of the patients have monoclonal immunoglobulin in serum and/or urine and some have clonal proliferation of plasma cells in their bone marrow. This disease has the widest spectrum of organ involvement, most commonly affecting the kidneys, heart and liver. Involvement of peripheral nervous system is not infrequent and may be the presenting feature of the disease process. Thus, recognition of peripheral neuropathy and affecting the kidney as an early symptom of AL amyloidosis may widen the scope for therapeutic intervention. We describe here a rare case of primary amyloidosis (AL) κ-light chain presenting with clinical features of peripheral neuropathy and affecting the kidney and heart at an early age of 18 years, hitherto unreported in literature. The case was further interesting as it was not associated with increased serum/urine immunoglobulins or plasma cells in bone marrow. Diagnosis was confirmed using immuno-electron microscopy on sural nerve biopsy. [ABSTRACT FROM AUTHOR]

The article presents case studies related to laboratory samples with "unsuitable" laboratory comments which has diagnostic implications to the disease which affect the serum. It mentions that case of a 21-year-old man with type 2 diabetes mellitus and acute abdominal pain, and is diagnosed with hypovolaemia. It discusses the case of a 71-year-old man with abdominal pain, type 2 diabetes mellitus, and with a history of alcohol intake, and also demonstrated signs of mucosal bleeding.

To report a rare case of hamartoma of the hypopharynx. A case of hamanoma of the hypopharynx is reported here in a 51-year-old man who presented with sudden absolute dysphagia. A contrast enhanced CT scan of the patient revealed a non-infiltrative, polypoidal, lipomatous mass in the hypopharynx. This provisional diagnosis helped us in approaching the lesion conservatively by a transoral route. The lesion, originating from the left aryepiglottic fold, was excised using Eve's tonsil snare. A bistopathological diagnosis of hamanoma was made. A thorough evaluation is needed, including radiology, for assessing the complaints of dysphagia in a patient in fifth decade, to rule out mitotie pathology. In this case the preoperative radiology was helpful in establishing a preliminary diagnosis of non-malignant etiology. Hamartoma should be considered a rare but possible differential diagnosis in such cases. [ABSTRACT FROM AUTHOR]

Epitheloid hemangioendothelioma is an uncommon vascular neoplasm and has an unpredictable clinical behavior. It is characterized by round or spindle-shaped endothelial cells with cytoplasmic vacuolation. Most often, epitheloid hemangioendothelioma arise from the soft tissues of the upper and lower extremities and it has borderline malignant potential. We describe the first reported case of epitheloid hemangioendothelioma in the urinary bladder, which was treated by transurethral resection. The diagnosis was confirmed by immunohistochemistry. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented which discusses a case study of a 32-year-old woman diagnosed with cardiac septal hypertrophy and sporadic progressive external ophthalmoplegia (PEO) and ragged red fibers (RRF) in muscle biopsy with relapses.

Background: Japanese encephalitis (JE), a vector-borne viral disease, caused by a group B arbovirus (Flavivirus) and transmitted by Culicine mosquito. Acute Encephalitis Syndrome (AES) is most widely caused by Japanese Encephalitis (JE) virus. Bihar stands third in the reporting of JE cases in India and still there is a deficiency of the data coming from locales in the state. The current study was carried out to assess the status and trends of AES and JE in Bihar state and to know the status of districts in the disease, so to come up with the recommendations for its prevention and control. Methods & Materials: Epidemiological data on the monthly basis for AES and JE in over the past 6 years (2009-2014) was collected as reported by State Health Authorities with prior necessary permission. Results: The total numbers of 4400 cases (733 cases/year) with an average Case Fatality Rate (CFR) of 30% in aggregate of AES for the entire study period. A total 396 JE cases reported approximately 14% CFR. The peaks are shown in start and end of the monsoon months i.e. May-June and September -October for AES and JE respectively. District such as Patna, Nalanda, Jehenabad, Nawada, Gaya, Aurangabad, Vaishali, Muzaffarpur, Sheohar, East Champaran have annual incidence rate ranging from 4.7 to 25.0 per lakh population, which falls in highest incidence reporting for AES while Patna, Jehenabad, Nawada, Gaya, Lakhisarai, Gopalganj, Siwan, East Champaran and West Champaran have annual incidence rate ranging from 0.546 to 1.78 per lakh for JE. Study shows the incidence of AES and JE in Bihar is keep increasing since 2009. Conclusion: AES and JE is an endemic problem in Bihar state with now all district reporting cases of AES and JE. Reporting and surveillance mechanism needs to be strengthened at local level also. Confidence among the private practitioners needs to be developed for reporting of AES cases which are participating less in surveillance activities. Intense IEC activities concentrate efforts for prevention and control strategy must be operationalized at sub district level and village level to increase the participation from community so that passive surveillance increase. [ABSTRACT FROM AUTHOR]