Multifocal atypical teratoid/rhabdoid tumour in an infant-a rare case report.

BACKGROUND: Atypical teratoid/rhabdoid tumours (AT/RT) are uncommon but aggressive, malignant tumours in the paediatric age group. Presentation of concomitant supratentorial and infratentorial lesions in an infant is extremely rare. We discuss an infant diagnosed with such lesions. Systematic PubMed search was conducted using keywords 'atypical teratoid /rhabdoid tumor', 'paediatric' and 'multifocal'. Reports were included for patients younger than 18 years with two or more lesions. The search yielded additional five cases and were tabulated. Age, sex, location, treatment given and survival/outcome were noted. CASE REPORT: A 10-month-old child presented with complaints of drowsiness and intractable vomiting. Imaging showed multifocal supra- and infratentorial lesions with obstructive hydrocephalus. The child underwent ventriculoperitoneal shunt followed by surgical removal of the posterior fossa lesion. Histopathological features were consistent with AT/RT. CONCLUSIONS: Multifocal AT/RT are very rare. The impact of multifocality in the outcome is not known as very few reports are available. Newer targeted therapies may offer insight in improving outcomes in the future.

Preferences and experiences of parents/guardians of youth with epilepsy and intellectual disability on reproductive health counseling.

OBJECTIVE: To explore the experiences and preferences of parents/guardians of adolescents and young adults (AYA) of childbearing potential with co-occurring epilepsy and intellectual disability (ID) regarding counseling by neurologists on sexual and reproductive health (SRH) topics such as pregnancy, contraception, menstruation, and folic acid supplementation. METHODS: We conducted semi-structured interviews with parents/guardians of AYAs (12-28 years old) of childbearing potential with co-occurring epilepsy and ID, recruited from a tertiary-care children's hospital. We confirmed the diagnoses of epilepsy and ID with the patient's neurologist and parent/guardian. All degrees of ID (e.g. mild/moderate/severe) were eligible. We audio-recorded and transcribed interviews. Two coders performed qualitative thematic analysis. RESULTS: Twenty-five parents/guardians completed interviews. Themes included: (1) Parents/guardians believe their child to be immune from sexual abuse due to their supervision, yet desire counseling about abuse recognition and prevention, which they also report not occurring (2) A common opinion was that counseling on menstruation was more relevant to their child's life than counseling about pregnancy-related topics (3) Parents/guardians reported a lack of counseling on pregnancy-related topics such as folic acid supplementation and teratogenesis and generally also reported some degree of interest in hearing about these topics from neurologists (4) Parents/guardians also reported a lack of counseling on drug interactions between contraception and ASMs, and were highly interested in learning more about this topic (5) Parents/guardians want neurologists to initiate annual comprehensive SRH counseling at puberty about most topics, but report that they often initiate SRH discussions themselves. CONCLUSION: Parents/guardians of AYAs with epilepsy and ID prefer more frequent, neurologist-initiated, comprehensive conversations surrounding SRH particularly emphasizing menstruation and sexual abuse recognition/prevention. Findings may inform professional and patient education and health systems interventions including development of discussion guides and/or decision aides to improve SRH care for AYAs with epilepsy and ID.

Spatial variability of trace gases (NO2, O3 and CO) over Indian region during 2020 and 2021 COVID-19 lockdowns.

COVID-19 lockdown has given us an opportunity to investigate the pollutant concentrations in response to the restricted anthropogenic activities. The atmospheric concentration levels of nitrogen dioxide (NO2), carbon monoxide (CO) and ozone (O3) have been analysed for the periods during the first wave of COVID-19 lockdown in 2020 (25th March-31st May 2020) and during the partial lockdowns due to second wave in 2021 (25th March-15th June 2021) across India. The trace gas measurements from Ozone Monitoring Instrument (OMI) and Atmosphere InfraRed Sounder (AIRS) satellites have been used. An overall decrease in the concentration of O3 (5-10%) and NO2 (20-40%) have been observed during the 2020 lockdown when compared with business as usual (BAU) period in 2019, 2018 and 2017. However, the CO concentration increased up to 10-25% especially in the central-west region. O3 and NO2 slightly increased or had no change in 2021 lockdown when compared with the BAU period, but CO showed a mixed variation prominently influenced by the biomass burning/forest fire activities. The changes in trace gas levels during 2020 lockdown have been predominantly due to the reduction in the anthropogenic activities, whereas in 2021, the changes have been mostly due to natural factors like meteorology and long-range transport, as the emission levels have been similar to that of BAU. Later phases of 2021 lockdown saw the dominant effect of rainfall events resulting in washout of pollutants. This study reveals that partial or local lockdowns have very less impact on reducing pollution levels on a regional scale as natural factors like atmospheric long-range transport and meteorology play deciding roles on their concentration levels.

SMARCB1 (INI-1) - Deficient sinonasal carcinoma: Report of two cases.

SMARCB1 (INI-1)-deficient sinonasal carcinoma is a rare, poorly differentiated carcinoma defined by complete loss of tumor suppressor gene SMARCB1 (INI-1) within the neoplastic cell nuclei demonstrated by the immunohistochemical stain. SMARCB1 (INI-1) gene inactivation has been implicated in the pathogenesis of a diverse group of malignant neoplasms that tend to share "rhabdoid" morphology. SMARCB1 (INI-1)-deficient sinonasal carcinoma was first reported by Agaimy et al. in 2014. These tumors are often basaloid with focal rhabdoid differentiation, prominent necrosis, increased mitotic activity, and aggressive behavior. Other than being INI-1 and NUT negative, they are positive for pancytokeratin and express variable immunoreactivity for squamous markers like p63 and neuroendocrine markers like synaptophysin. Most patients present with locally advanced disease and hence a combination of chemotherapy, radiotherapy, and surgery is usually recommended.

Ectopic Cervical Thymoma: An Uncommon Entity.

Thymomas originates from the epithelial cells of thymic tissue. These tumors commonly occur in the anterior mediastinum. However, thymomas can arise anywhere from the aberrant or remnant thymus in the neck or mediastinum. Ectopic cervical thymoma is a rare disease. It is important to be aware that cervical masses can also be thymomas rather than thyroid or parathyroid masses. Here, we present a case of a 62-year-old female who presented with swelling in the neck and was diagnosed with cervical thymoma type AB.

Ovarian borderline mucinous tumor with squamous overgrowth: An unusual finding with review of literature.

Borderline mucinous tumor (BMT) is often associated with other entities such as dermoid cyst, Brenner tumor, and endometriosis. Squamous areas are often associated which may be a part of BMT or its associated conditions. Here, we describe squamous overgrowth in a case of intestinal type of mucinous borderline tumor in a 29-year-old uniparous female and discuss the diagnostic difficulties.

Mucoepidermoid Carcinoma of Salivary Gland: Limitations and Pitfalls on FNA.

Mucoepidermoid Carcinoma (MEC) is the most common malignant neoplasm of salivary gland origin. However, its morphologic heterogeneity poses difficulty in interpretation. In the present series we discuss the morphologic features of MEC, limitations and pitfalls in its diagnosis on Fine Needle Aspiration Cytology (FNAC). Fourteen cases of suspected MEC were evaluated cytologically followed by histopathological examination for confirmation. A definite cytological diagnosis was rendered in nine cases; three of the remaining five were underdiagnosed as abscess, pleomorphic adenoma and mucus cyst. Of the remaining two cases, one case each of sebaceous carcinoma and sialadenitis was mislabeled as MEC on cytology. A satisfactory aspirate composed of intermediate cells, mucin secreting cells and squamous cells in a mucinous background may not be obtained in all cases of low grade MEC. High grade MEC can be classified as squamous cell carcinoma. Hence, awareness of confounding factors with clinicopathologic correlation and judicious use of frozen section can help in minimizing errors.

Bladder Adenocarcinoma: A Persisting Diagnostic Dilemma.

Primary urinary Bladder Adenocarcinoma (PBA) is an uncommon neoplasm and can cause diagnostic difficulties due to histologic similarities with adenocarcinomas of adjacent structures like Gastrointestinal Tract (GIT) and prostate, since involvement of the bladder by metastasis or direct spread can occur. Seven cases of bladder adenocarcinomas were diagnosed during a period of four years in a tertiary care hospital. Patient's age ranged from 26-78 years with a male predilection. Three cases were signet ring type adenocarcinomas, two cases were subtyped as enteric variant, one as mucinous variant and one as adenocarcinoma Not Otherwise Specified (NOS) variant. One case showed urachal involvement. Common site of involvement was the base and posterior wall of the bladder. Three cases had prior history of GIT malignancy. No morphologic difference was identified to differentiate primary from secondary adenocarcinomas. Bladder adenocarcinoma is rare tumours. Primary and secondary adenocarcinomas cannot be distinguished from each other on morphologic grounds. Ancillary studies may have limited role in distinguishing between the two. Hence, clinical correlation has a major role in their evaluation.

Primary Small Cell Carcinoma of The Esophagus - An Eight Year Retrospective Study.

INTRODUCTION: Primary small cell carcinoma of the esophagus is a rare and aggressive tumor. Patients present with metastatic disease and have a poor clinical outcome. The objective of the study was to correlate clinical and histopathological features of primary small cell carcinoma of the esophagus diagnosed and treated at our hospital. MATERIALS AND METHODS: A retrospective study of 11 patients diagnosed with primary small cell carcinoma of the esophagus in Kasturba Hospital, Manipal between 2006 and 2014 was done. The histopathological and immunohistochemical features were correlated with clinical and endoscopic findings. RESULTS: Eleven patients were diagnosed to have small cell carcinoma of esophagus with a male preponderance. Common presenting symptoms were dysphagia and weight loss. Majority of the patients showed mid esophageal ulceroproliferative growth. Biopsy findings were consistent with the characteristic morphology of small cell carcinoma and demonstrated immunoreactivity to neuroendocrine markers. In addition, few cases also showed adjacent squamous dysplasia/carcinoma. Most of the patients presented with metastatic disease, liver being the most common site. These patients were treated by chemotherapy and radiotherapy. CONCLUSION: Esophageal small cell carcinomas are aggressive tumors with high rates of distant metastasis. Presence of squamous dysplasia /squamous cell carcinoma in the adjacent mucosa supports the hypothesis that this neoplasm arise from pleuripotent stem cells. Presence of the latter is also useful to rule out spread from lung primary.

Hepatic Epithelioid Hemangioendothelioma in an Eight Year old - A Case Report.

Hepatic epithelioid haemangio-endothelioma (HEHE) is a rare vascular tumour of endothelial origin. The etiology of this tumour is unknown and has a variable clinical outcome. It usually affects adults and is extremely rare in children. Histologically, HEHE is characterized by epithelioid to dendritic tumour cells with intracytoplasmic lumina containing RBCs and a myxoid to sclerotic stroma. Being a rare entity, awareness and a high degree of suspicion is required to correctly identify this tumour. We report a case of hepatic hemangioendothelioma in an 8-year-old child.

Gastric cryptococcal infection as an initial presentation of AIDS: a rare case report.

Cryptococcus neoformans has been recognized as a human pathogen over centuries. This has achieved new prominence in the recent years as it is an opportunistic fungi causing fatal, deep mycotic infections in immunocompromised states. Although cryptococcus is principally a pathogen of central nervous system, wide variety of other organs may also be involved. Gastrointestinal cryptococcosis is rarely reported either as an isolated finding or in a disseminated disease. However, even with the strikingly increased incidence of the disease, occurrence of obvious gastrointestinal symptoms directly attributable to cryptococcosis is outstandingly rare. We report a case of gastric cryptococcal infection with esophageal herpes as an initial presentation in an AIDS patient.

Computer simulation of protein-ligand interactions: challenges and applications.

The accurate modeling of protein-ligand interactions, like any prediction of macromolecular structure, requires an energy function of sufficient detail to account for all relevant interactions and a conformational search method that can reliably find the energetically favorable conformations of a heterogeneous system. Both of these prerequisites represent daunting challenges. Consequently, the routine docking of small molecules or peptides to proteins in their correct binding modes, and the reliable ranking of binding affinities remain unsolved problems. Nonetheless, computational techniques are continually evolving so as to broaden the range of feasible applications, and the accuracy of predictions and theoretical approaches can often be of great help in guiding and interpreting experiments. We discuss the energetics of protein-ligand systems and survey conformational searching techniques. We illustrate how molecular modeling of a protein-ligand complex sheds light on the observed resistance of a mutant dihydrofolate reductase to the antibiotic trimethoprim. In another example, we show that relaxation of side chains in different crystal structures of the same complex, benzamidine bound to trypsin, is needed to draw sensible conclusions from the calculations. The results of these relatively simple conformational searches underscore the importance of incorporating protein flexibility in simulations of protein-ligand interactions, even in the context of relatively rigid binding pockets.