Unique case of a GLI1 amplified biphasic mesenchymal tumor of the orbit.

GLI1-altered mesenchymal tumors are an emerging entity in soft tissue pathology. In the head and neck region, they are most commonly in the tongue. Limited published data indicate a propensity for local recurrence, regional spread, and distant metastasis in both GLI1-rearranged and GLI1-amplified tumors. The purpose of this report is to present the rare case of a GLI1-amplified spindle cell tumor of the orbit and a focused review of the literature. A 54-year-old woman presented with proptosis, eye pain, and ocular motility restriction in the left eye. Imaging demonstrated a tumor occupying the superomedial intraconal orbit that was distinct from the extraocular muscles, optic nerve, and globe. The tumor was totally resected with a combined open transorbital and endoscopic, endonasal approach. Pathological analysis demonstrated a spindled and epithelioid mesenchymal tumor with diffuse nuclear GLI1 expression. PCR-based, next*-generation sarcoma fusion panel was negative for GLI1 fusions, including GLI1::ACTB fusions; however, DDIT3 breaks apart fluorescence in situ hybridization (FISH), which can be used as a surrogate for GLI1 alterations due to proximity to 12q13.3, showing amplification. Post-operatively, the patient had recovered visual acuity. She received adjuvant radiation therapy (60 Gy in 30 fractions). Surveillance for recurrence, regional spread, and distant metastasis has been negative at a 6-month follow-up. Ultimately, we report the first case of a GLI1-amplified mesenchymal neoplasm of the intraconal orbit managed with gross total resection via a combined approach followed by adjuvant radiation therapy.

Multi-drug resistant, biofilm-producing high-risk clonal lineage of Klebsiella in companion and household animals.

Antimicrobial resistance is a global emergency which needs one health approach to address. The present study was conducted to detect the prevalence of beta-lactamase and biofilm-producing Klebsiella strains in rectal swabs (n = 624) collected from healthy dogs, cats, sheep and goats reared as companion or household animals in India. The dogs and cats were frequently exposed to third- or fourth-generation cephalosporins for therapy. The sheep and goats were occasionally exposed to antibiotics and had environmental exposure. Phenotypical ESBL (n = 93) and ACBL (n = 88)-producing Klebsiella were isolated significantly more (P < 0·05) from companion animals than household animals. Majority of the Klebsiella possessed blaCTX-M-15 . The sequences blaCTX-M-15.2 , blaCTX-M-197 and blaCTX-M-225 are reported first time from the companion animals. All ACBL-producing isolates possessed blaAmpC . The present study detected 65·8% of Klebsiella strains as biofilm producers possessing the studied biofilm associated genes. The isolates showed phenotypical resistance against chloramphenicol, tetracycline, doxycycline, co-trimoxazole, ampicillin, cefotaxime/clavulanic acid. The present study showed that companion and household animals (dogs, cats, sheep, goats) may act as a carrier of ESBL/biofilm-producing, multi-drug resistant, high-risk clonal lineage of Klebsiella.

Ecology of bats and their role in emerging zoonotic diseases: a review.

The order Chiroptera is the second largest order of mammals and shows great physiological and ecological diversity. These animals play significant ecological roles as prey and predator as well as facilitating pollination, seed dispersal, arthropod reduction and nutrient distribution and reutilisation in nature. Bats act as hosts to a range of viral, bacterial, fungal and parasitic zoonoses. Human activities increase the likelihood of exposure to bats, thereby increasing the opportunity for infections to spill over. Continuing ecological processes, emergence and spillover of novel pathogens in naïve hosts, including humans, along with other complex natural phenomena require proper understanding that may help in predicting the next spillover. This review will discuss the ecology of bats and their role in the emergence of different zoonoses, particularly those of viral origin, in an organised manner to increase understanding of the factors that may play significant roles in spillover of these pathogens from bats to other animals, including humans.

L'ordre des Chiroptères, le deuxième des mammifères en nombre d'espèces, présente des caractéristiques physiologiques et écologiques très diverses. Ces animaux jouent un rôle écologique majeur à divers titres, en tant que proies et prédateurs, mais aussi parce qu'ils interviennent dans la pollinisation, la dispersion des semences, la réduction des populations d'arthropodes et la répartition et réutilisation des nutriments dans la nature. Les chauves-souris sont les hôtes d'un large éventail de virus, bactéries, champignons et parasites zoonotiques. Les activités humaines entraînent une probabilité accrue d'exposition aux chauves-souris, ce qui à son tour multiplie les situations à la faveur desquelles les maladies infectieuses peuvent se transmettre d'une espèce réservoir à des hôtes accidentels. Les processus écologiques continus, l'émergence d'agents pathogènes nouveaux et l'atteinte accidentelle d'une espèce réceptive mais habituellement non touchée, y compris l'homme, ainsi que d'autres phénomènes naturels complexes, doivent être correctement appréhendés afin de pouvoir prédire la prochaine occurrence de ce type de transmission inter-espèces. Les auteurs examinent l'écologie des chauves-souris et leur rôle dans l'émergence de plusieurs zoonoses, notamment d'origine virale, en les présentant sous forme raisonnée afin de mieux faire comprendre les facteurs susceptibles de jouer un rôle significatif dans la transmission de ces agents pathogènes des chauves-souris à d'autres espèces, y compris l'homme.

El orden de los quirópteros, que es el segundo más grande de los órdenes de mamíferos, presenta una gran diversidad fisiológica y ecológica. Estos animales cumplen importantes funciones ecológicas como presas y predadores, además de facilitar la polinización, la dispersión de semillas, la reducción de las poblaciones de artrópodos y la distribución y reutilización de nutrientes en el medio natural. Los murciélagos son hospedadores de una serie de zoonosis víricas, bacterianas, fúngicas y parasitarias. Las actividades humanas aumentan la probabilidad de exposición a murciélagos, acrecentando con ello las posibilidades de extensión secundaria de una infección. Los continuos procesos ecológicos, la aparición de nuevos patógenos y su extensión a hospedadores no expuestos previamente, incluidas las personas, junto con otros fenómenos naturales complejos, obligan a conocer cabalmente estos procesos para ayudar a predecir dónde puede darse la siguiente extensión secundaria. Los autores examinan la ecología de los murciélagos y la función que estos cumplen en el surgimiento de diferentes zoonosis, en especial las de origen vírico, de manera organizada para conocer mejor los factores que pueden influir sustancialmente en el paso de esos patógenos del murciélago a otros animales, en particular el ser humano.

Diagnostic accuracy of FNAC and cyto-histopathological correlation in testicular and paratesticular mass lesions.

OBJECTIVE: FNAC has a definitive role and has proved extremely useful in diagnosis of testicular and paratesticular mass lesions. In view of the dearth of literature of studies involving large cohorts of patients, the present study describes at length the detailed cytological evaluation of testicular and paratesticular mass lesions. METHODS: Our study consisted of 85 cases in 5-year retrospective and 1-year prospective analyses carried out in the Department of Pathology, Government Medical College, Jammu. The study depicts cytomorphological findings of testicular and paratesticular mass lesions. We evaluate the concordance rate of cytological diagnosis with the histological diagnosis as a percentage and assess the diagnostic accuracy of FNAC by calculating sensitivity and specificity. RESULTS: Out of 85 cases, inflammatory lesions comprised the largest group comprising 47 cases (55.29%) followed by 20 cases (23.5%) of cystic lesions. In addition, there were 10 cases (11.76%) of malignant tumours and three cases (3.5%) of benign tumours. Overall, acute orchitis was the most common inflammatory lesions (12.94%) followed by tubercular epididymitis (9.4%). The most common cystic lesion was benign epididymal cyst (10.5%) and the most common malignant tumours were seminoma and embryonal carcinoma. Cytohistological correlation was available for 16 (18.82%) cases only and cytological diagnosis was concordant with the histological diagnosis in all these cases. Sensitivity and specificity of FNAC was 100% in our study. CONCLUSION: FNAC is a useful diagnostic modality for testicular and paratesticular mass lesions due to its high sensitivity and specificity in discriminating between different types of lesions and high concordance rates with histopathological diagnosis.

Ultrastructural changes in the sublingual salivary gland of prenatal buffalo (Bubalus bubalis).

AIM: The present study was aimed to elucidate ultrastructural changes in the development of sublingual salivary gland of buffalo during prenatal life. MATERIALS AND METHODS: The study was carried out on sublingual salivary gland of 36 buffalo fetuses ranging from 13.2 cm curved crown-rump length (CVRL) (88(th) day) to full term. The fetuses were categorized into three groups based on their CVRL. RESULTS: The cells lining the terminal tubules were undifferentiated with poorly developed cytoplasmic organelles but lacked secretory granules (SGs) at 13.2 cm CVRL (88(th) day). The SGs appeared first in the form of membrane-bound secretory vesicles with homogeneous electron-dense as well as electron-lucent contents at 21.2 cm CVRL (122(nd) day); however, mucous acinar cells contained electron-lucent granules, while serous secretory cells as well as serous demilunes showed electron-dense granules at 34 cm CVRL (150(th) day) of prenatal life. At 53.5 cm CVRL (194(th) day), both mucous and serous acini were differentiated by the density of SGs. CONCLUSION: The cytoplasm of acinar cells was filled with mitochondria, rough endoplasmic reticulum, and Golgi profiles in mid and late fetal age groups. The SGs were increased in number during the late fetal age group. The myoepithelial cells (MECs) were located at the base of the acinar cells as well as intercalated and striated ducts and were stellate in shape. The ultrastructure of MEC revealed a parallel stream of myofilaments in the cytoplasm and its processes. The mucous cells were predominantly present in the sublingual salivary gland and were pyramidal in shape.

Basal cell adenoma-clinicopathological, immunohistochemical analysis and surgical considerations of a rare salivary gland tumor with review of literature.

INTRODUCTION: Basal cell adenoma (BCA) of the salivary glands is a rare benign salivary gland tumour. Differentiation of BCA from varied entities involving maxillofacial area is mandatory. AIM: To analyze the clinicopathological, histopathologic features, immunohistochemcal analysis and surgical considerations of this rare entity. MATERIALS AND METHODS: This study included 12 cases of BCA from archives of department reported over the period of 13 years. All the pertaining clinicopathologic features such as incidence, age, sex and site of lesions were assessed. Tissue sections were stained by using panel of immunohistochemical markers, i.e. Pan CK, CK 5/6 and S100, Calponin, p63, CD 117 and smooth muscle actin. RESULTS: BCA was observed in 26-52 years age group (mean age, 38.75 years) with female propensity of 7:5 male to female ratio. It is seen more commonly in parotid gland, followed by upper lip, buccal mucosa and palate. Solid type is the most common histopathologic type followed by tubular, membranous and trabecular. Only one case of membranous type of BCA showed recurrence. Pan CK, CK 5/6 showed strong immunoreactivity, calponin showed moderate staining, p63 and Ki-67 mild staining, whereas CD 117 and SMA showed negative immunostaining. CONCLUSION: Vigilant comprehensive analysis of all the pertaining clinicopathologic and histopathologic features and immunohistochemical analysis are required for differentiating from other lesions with basaloid differentiation having varying prognosis.

Ocular phototherapy.

Phototherapy can be translated to mean 'light or radiant energy-induced treatment.' Lasers have become the exclusive source of light or radiant energy for all applications of phototherapy. Depending on the wavelength, intensity, and duration of exposure, tissues can either absorb the energy (photocoagulation, thermotherapy, and photodynamic therapy (PDT)) or undergo ionization (photodisruption). For phototherapy to be effective, the energy has to be absorbed by tissues or more specifically by naturally occurring pigment (xanthophyll, haemoglobin, and melanin) within them. In tissues or tumours that lack natural pigment, dyes (verteporphin, Visudyne) with narrow absorption spectrum can be injected intravenously that act as focal absorbent of laser energy after they have preferentially localized within the tumour. Ocular phototherapy has broad applications in treatment of ocular tumours. Laser photocoagulation, thermotherapy, and PDT can be delivered with low rates of complications and with ease in the outpatient setting. Review of the current literature suggests excellent results when these treatments are applied for benign tumours, particularly for vascular tumours such as circumscribed choroidal haemangioma. For primary malignant tumours, such as choroidal melanoma, thermotherapy, and PDT do not offer local tumour control rates that are equivalent or higher than those achieved with plaque or proton radiation therapy. However, for secondary malignant tumours (choroidal metastases), thermotherapy and PDT can be applied as a palliative treatment. Greater experience is necessary to fully comprehend risks, comparative benefits, and complication of ocular phototherapy of ocular tumours.

Does neurologic deterioration help to differentiate between pseudoprogression and true disease progression in newly diagnosed glioblastoma multiforme?

Enlarging or new lesions frequently appear on magnetic resonance imaging (mri) after concurrent administration of radiation therapy and temozolomide in glioblastoma multiforme (gbm) patients. However, in nearly half such cases, the observed radiologic changes are not due to true disease progression, but instead are a result of a post-radiation inflammatory state called "pseudoprogression." Retrospective studies have reported that neurologic deterioration at the time of the post-chemoradiotherapy mri is found more commonly in patients with true disease progression. We report a gbm patient with both radiologic progression on the post-chemoradiotherapy mri and concomitant neurologic deterioration, and we caution against incorporating clinical deterioration into the management schema of patients with possible pseudoprogression.

Is tobacco smoking protective for sarcoidosis? A case-control study from North India.

BACKGROUND: While tobacco smoking is commonly believed to be negatively associated with the occurrence of sarcoidosis, the relationship of environmental tobacco smoke (ETS) exposure with sarcoidosis is largely un-explored. We studied the impact of active smoking and ETS exposure on disease severity in newly diagnosed cases of sarcoidosis from India. METHODS: Data on demographic variables, smoking habits and exposure to environmental tobacco smoke (ETS) among non-smoker sarcoidosis patients was collected prospectively. Presence of smoking and ETS exposure were compared among cases and controls. Among the sarcoidosis patients, clinical manifestations, radiology, spirometry and histopathological grading of lung biopsy were compared between the smokers vs. non-smokers and ETS exposed vs. not-exposed. RESULTS: We studied 98 newly diagnosed cases of sarcoidosis and 196 age, sex and religion- matched healthy volunteers. The study group comprised of 62 (63%) men and 36 (37%) women. The prevalence of smoking was similar in cases and controls (12.2% vs. 15.3%, p = 0.48). Among the never smoker patients with sarcoidosis, 20 (23%) reported ETS exposure vis-a-vis 57 (34%) in the matched controls. A conditional logistic regression analyses showed insignificant negative association with active smoking (OR 0.75; 95% CI, 0.35-1.56) or ETS exposure (OR 0.58; 95% CI, 0.32-1.06) after adjusting for age, gender, religion, and education. There were no differences in the clinical manifestations, radiological staging, spirometry and histopathological grading of lung biopsy in any of the group comparisons studied. CONCLUSION: Smoking or ETS exposure may not have significant negative association with sarcoidosis. Also, tobacco smoke might not have any effect on the clinical behavior or disease severity in sarcoidosis. The belief that smoking is protective for sarcoidosis is not substantiated in this study and appears to be misfounded.

Survival with retinoblastoma in the USA: 1975-2004.

BACKGROUND: The purpose of this study was to determine the survival of retinoblastoma in the USA over a 30-year period from 1975 to 2004 using a systematic review of existing databases. METHODS: Nine hundred and ninety-two cases of retinoblastoma (International Classification of Oncology (ICDO-3) codes C69.2 (retina) and C69.9 (eye, NOS)) were derived from the Surveillance, Epidemiology and End Results (SEER) program database in the USA from 1975 to 2004. All 17 current SEER registries were utilised to allow for optimal patient volume for statistical analysis. Survival rates were calculated by the Kaplan-Meier method and differences evaluated with logrank and Wilcoxon tests. Cause of death was obtained and reviewed for all deceased patients. All retinoblastoma patient records were reviewed for treatments given and occurrence of second malignant neoplasms. RESULTS: There were a total of 990 distinct patients with retinoblastoma. Almost all cases (99.1%) were reported by the hospitals, and histopathological confirmation was available in 87.7% of cases. Over the period of 30 years (1975-2004), the 5-year observed actuarial survival rate increased from 92.3% (1975-84) to 93.9% (1985-94) to 96.5% (1995-2004). The difference in rates was statistically significant (Wilcoxon = 6.2393, p = 0.0442). The proportion of cases treated with radiotherapy first increased from 20.5% in 1975-9 to 34.6% in 1985-9 and then sharply decreased to 6.5% in 2000-4. CONCLUSIONS: Over the last 30 years, there has been a gradual improvement in 5-year survival of children with retinoblastoma in the USA.

Incidence of retinoblastoma in the USA: 1975-2004.

BACKGROUND: The purpose of this study was to determine the age-adjusted incidence of retinoblastoma in the USA over a 30-year period from 1975 to 2004 using a review of existing databases. METHODS: Six hundred and fifty-eight patients with retinoblastoma (International Classification of Oncology (ICDO-3) codes C69.2 (retina) and C69.9 (eye, NOS)) were derived from the Surveillance, Epidemiology, and End Results (SEER) program database in the USA from 1975 to 2004. Nine historical SEER registries were utilised. The significance of trend in age-adjusted incidence rate was determined using the chi(2) test, and 95% CIs were calculated. The patients were stratified according to age at diagnosis, laterality, gender and race. RESULTS: There were a total of 658 cases of retinoblastoma, representing 6.1% of all childhood cancers under age 5 years. The mean age-adjusted incidence of retinoblastoma in the USA was 11.8 per million children aged 0-4 years (95% CI 10.9 to 12.8). There was no significant trend in age-adjusted incidence for all races/genders, nor was there any significant variation of incidence between races or between genders. The proportion of bilateral cases (26.7%) versus unilateral cases (71.9%) remained stable over the 30-year period. CONCLUSIONS: The mean age-adjusted incidence rate of retinoblastoma of 11.8 cases per million children aged 0-4 years in the USA is similar to rates reported from European countries. The age-adjusted incidence rate of retinoblastoma in the USA has remained stable for the last 30 years.

Dosimetric comparison of 106Ru and 125I plaques for treatment of shallow (

The aim of this study was to compare dosimetric parameters between iodine-125 ((125)I) and ruthenium-106 ((106)Ru) plaques of similar sizes in the treatment of choroidal melanomas. The study design included retrospective double planning of each case. 26 consecutive patients with choroidal melanomas measuring 5 mm or less in thickness were included. Dose distributions were calculated using Plaque Simulator treatment-planning software for a prescription of 85 Gy to the tumour apex. Doses to the outer sclera, lens, fovea and optic disc were obtained for each case using appropriately sized plaques of each isotope. Statistical inferences were made using the non-parametric Wilcoxon signed rank test. The mean dose to the macula, disc and lens was 18%, 53% and 89% less, respectively, with (106)Ru than with (125)I. Scleral doses were greater for (106)Ru. The use of collaborative ocular melanoma study dosimetry results in even higher mean doses to the macula, disc, lens and sclera. Two-dimensional dose distributions and dose volume histograms demonstrated the increase in dose outside the tumour volume using (125)I. This comparison shows that, for tumours not exceeding 5 mm in thickness, the use of (106)Ru plaques has the potential to reduce the radiation dose to nearby normal structures and possibly lower the risk of radiation-induced visual loss.

Proton beam therapy for iris melanoma: a review of 15 cases.

AIM: To report results of proton beam therapy for iris melanoma. METHODS: A retrospective case series of 15 patients with nonresectable iris melanomas treated with proton beam therapy between August 1998 and August 2004. The main outcome measures were (1) local tumour control, (2) complications, and (3) eye retention. RESULTS: Of the 15 cases, 11 patients showed documented growth (including two cases of local recurrence following iridocyclectomy) while a further three cases were biopsy-proven melanoma. One patient presented with a newly acquired vascular nodule of the iris associated with angle seeding and glaucoma. Tumour control at mean follow-up of 34 months was 93% (14 of 15 eyes). Common complications included glaucoma in 53% (five patients had glaucoma prior to irradiation), dry eye (27%) and cataract in three patients (20%). Eye retention was possible in 80% (12 cases). CONCLUSION: Proton beam therapy is an effective treatment for cases of nonresectable iris melanoma. The major complications are cataract and glaucoma.