Cholestasis associated microtrabecular and pseudoacinar morphologies in hepatocellular carcinoma: Predicting immunophenotypes, clinical, and radiological outcome.

Introduction: Over the last two decades, there has been gradual shift in the approach to management of hepatocellular carcinoma (HCC). More emphasis on obtaining pretreatment biopsies for morphomolecular characterization and developing targeted therapies is becoming increasingly crucial. Gain-of-function mutations of CTNNB1, which encodes beta-catenin, occur in 27% of HCC patients.

Thyroglossal duct cyst in the suprasternal region in an adolescent.

Thyroglossal duct cysts are the most common midline neck swelling in childhood, occurring in the line of descent of the thyroid, anywhere between the foramen caecum and the isthmus of the thyroid. However, the most common location is the thyrohyoid. We present a case of an adolescent male who presented with a suprasternal mass, which was clinically diagnosed as a branchial cyst.

Double infections in the gastrointestinal mucosal biopsies.

Background And Objectives: Gastrointestinal infections are an important cause of morbidity and mortality worldwide. There are a few reports of gastrointestinal double infections in immunocompromised patients. In this study, we retrospectively analyzed double infections identified in gastrointestinal mucosal biopsies in a tertiary care center.

Monogenic SLCO2A1 gene mutation presenting as early onset inflammatory bowel disease-A report of rare case with review of literature.

Chronic enteropathy associated with the SLCO2A1 gene (CEAS) is a rare, autosomal recessive disorder characterized by multiple chronic ulcerative and structuring lesions in the small intestine, primarily affecting the ileum. It often presents with symptoms of chronic blood loss and protein loss, including iron deficiency anemia and abdominal pain, similar to other nonspecific small bowel enteropathies. This case report describes a 15-year-old boy with a 10-year history of recurrent abdominal pain, melena, anemia, and hypoalbuminemia.

Correlation of Liver Fibrosis using Noninvasive Transient Elastography with Histological Staging in Infants with Cholestasis - A Prospective Analytical Study.

Aims: This study primarily aimed to correlate liver fibrosis (LF) assessed by transient elastography (TE) using liver stiffness measurement (LSM score) with liver biopsy fibrosis scoring (METAVIR score) in biliary atresia (BA). Secondary objectives were to assess the diagnostic accuracy of TE in distinguishing BA from other causes of neonatal cholestasis (NC) and the correlation of preoperative LSM score with surgical outcomes 3 months post Kasai portoenterostomy.

Methodology: Infants under 6 months with conjugated hyperbilirubinemia (July 2022-February 2024) were cases and age- and gender-matched healthy infants served as controls.

Neonatal autopsy-is it relevant in today's era?

Autopsy of infants can provide vital information about the cause of death and contributes to the detection of diagnostic errors, especially in a low- or middle-income country. To observe the clinicopathological agreement in neonatal deaths in neonatal intensive care units (NICU) and comment on the additional information retrieved by autopsy. A retrospective observational study was conducted in the NICU from January 2020 to December 2022.

Congenital Intraoral Dermoid and Epidermoid Cyst with Orocutaneous Fistula Presenting with Life-threatening Airway Obstruction in an Infant.

Dermoid cysts and epidermoid cysts in the floor of the mouth are rare in the pediatric age group. In this case report, we have discussed the presentation, management, and literature review of a 6-month-old female child presenting with both dermoid and epidermoid cysts in the floor of the mouth with an orocutaneous fistula.

C11orf95-RELA, YAP1-MAMLD1, and YAP1-FAM118B Fusion Negative Anaplastic Ependymoma with Lipogenic Differentiation.

Lipogenic differentiation in ependymoma is an infrequent occurrence with very few reported cases. The grading was done solely based on the histomorphology and molecular subtyping was not described in such ependymomas. New molecular classification divided ependymomas in nine different subgroups, of which supratentorial location tumor usually exhibits C11orf95-RELA, YAP1-MAMLD1, and YAP1-FAM118B fusion proteins.

Prevalence of Pancreato-Biliary Maljunction in Children with Choledochal Cyst - A Prospective Observational Study.

Background: Pancreatico-biliary maljunction (PBM) is often found to be associated with choledochal cysts (CCs). According to a European multicenter study, the prevalence of PBM in cases of CC is found to be 72.2%, however, there is no Indian study depicting the prevalence of PBM in Indian children with CCs, which is one of the main postulated factors in the etiopathogenesis of CC.

Diagnostic Performance of Ultrasound-Based International Ovarian Tumor Analysis Simple Rules and Assessment of Different NEoplasias in the adneXa Model for Predicting Malignancy in Women with Ovarian Tumors: A Prospective Cohort Study.

Background: Comparative performance of various ultrasound models in diagnosing ovarian lesions has not been adequately studied. This study aimed to evaluate the diagnostic performance of the International Ovarian Tumor Analysis (IOTA) simple rules and Assessment of Different NEoplasias in the adneXa (ADNEX) models in women with ovarian lesions.

Methods: Women 18-80 years, with an ovarian lesion planned for surgery were recruited in this prospective observational cohort study.

Holocord metastasis from supratentorial glioblastoma multiforme: an uncommon manifestation of a common tumor.

Intramedullary metastasis from primary glioblastoma multiforme (GBM) is a rare phenomenon with a poor prognosis. The rate of spinal metastasis from intracranial GBM has been variably reported to be 0.4-2%.

Radicular variant of dens in dente (RDinD) in a patient undergoing radioisotope therapy.

Dense in dente is a developmental anomaly frequently encountered in permanent maxillary incisors, with a prevalence rate of 0.25-10%. Our review of the scientific literature on a radicular variant of dens in dente (RDinD) in permanent molar teeth identified only two reported cases with a confirmed diagnosis.

Usefulness of Leucocyte Cell Population Data by Sysmex XN1000 Hematology Analyzer in Rapid Identification of Acute Leukemia.

Unlabelled: Leukocyte cell population data (CPD) generated by hematology auto analyzers are reported to be useful in screening of sepsis patients. However, there is a paucity of literature highlighting the utility of CPD in screening of acute leukemias (AL). Leucocyte CPD obtained by Sysmex XN1000 hematology analyzer from 210 cases of ALs [22 acute promyelocytic leukemia (APL), 79 non-APL acute myeloid leukemia (non-APL-AML) and 109 acute lymphoblastic leukemia (ALL)] were compared with 100 healthy and 52 reactive controls.

Presentation of potential genes and deleterious variants associated with non-syndromic hearing loss: a computational approach.

Non-syndromic hearing loss (NSHL) is a common hereditary disorder. Both clinical and genetic heterogeneity has created many obstacles to understanding the causes of NSHL. The present study has attempted to ravel the genetic aetiology in NSHL progression and to screen out potential target genes using computational approaches.

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Congenital nonsyndromic hearing loss (NSHL) has been considered as one of the most prevalent chronic disorder in children. It affects the physical and mental conditions of a large children population worldwide. Because of the genetic heterogeneity, the identification of target gene is very challenging.

Factors predicting perioperative outcomes in patients with myasthenia gravis or thymic neoplasms undergoing thymectomy by video-assisted thoracoscopic approach.

Background: The purpose of this study was to identify the factors which predict the perioperative outcomes after video-assisted thoracoscopic surgery (VATS) thymectomy in patients with myasthenia gravis (MG) or thymic neoplasms.

Patients And Methods: Data of consecutive patients who had undergone VATS thymectomy in our institution from August 2016 to April 2018 were collected retrospectively from a prospectively maintained database followed by prospective recruitment of patients who underwent VATS thymectomy from April 2018 to February 2020.

Results: A total of 31 patients were included.

Primary gastrointestinal anaplastic large cell lymphoma: A critical reappraisal with a systematic review of the world literature.

Anaplastic large cell lymphoma (ALCL) is a distinct T-cell non-Hodgkin lymphoma involving both nodal and extra-nodal sites with a specific anaplastic lymphoma kinase 1 (ALK-1) gene rearrangement. The commonly involved extranodal sites include skin, bone, soft tissue, lungs, and liver. ALCL primarily involving gastrointestinal (GI) tract is rare.

Pulmonary anaplastic large-cell lymphoma: A case-based systematic review of world literature.

We describe a case of ALK1 negative (-) pulmonary anaplastic large-cell lymphoma (pALCL) in an adult female with an unfavorable outcome following combination chemotherapy and present a systematic review of 39 such sporadic cases reported over the past 28 years (1990-2018). pALCL occurred in 26 males and 13 females (median age, 43 years [5-81]) and 13/39 (33.33%) were ≤18 years.

Anti-N-Methyl-D-Aspartate Receptor Encephalitis Associated with Mature Ovarian Teratoma in a Young Adolescent: A Case Report.

Background: Ovarian teratoma has an uncommon association with anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis. This is a life-threatening condition, and here, we describe a case of an adolescent girl with anti-NMDAR encephalitis caused by an ovarian teratoma.

Case: A 14-year-old girl presented with acute features of fever, severe headache, altered behavioral changes, delirium, autonomic instability, episodes of seizure, and involuntary movement over a period of 1 month.

Comprehensive functional network analysis and screening of deleterious pathogenic variants in non-syndromic hearing loss causative genes.

Hearing loss (HL) is a significant public health problem and causes the most frequent congenital disability in developed societies. The genetic analysis of non-syndromic hearing loss (NSHL) may be considered as a complement to the existent plethora of diagnostic modalities available. The present study focuses on exploring more target genes with respective non-synonymous single nucleotide polymorphisms (nsSNPs) involved in the development of NSHL.

Aesthetic Outcome of Gynecomastia Management with Conventional Liposuction and Cross-Chest Liposuction: A Prospective Comparative Study.

Background: Liposuction is the most accepted technique for treatment of gynecomastia at present with or without residual gland tissue excision. Conventional liposuction uses incisions for introduction of cannula, made usually at the inframammary crease or axilla resulting in consequent scars. Cross-chest liposuction technique was introduced to avoid these additional scars and improve the aesthetic outcome.

Intraconal orbital dermoid cyst: a rare location.

Intraconal dermoid cysts are very unusual in routine clinical practice. Clinical symptoms depend upon the site and extension of the lesion. Though rare, proptosis, diplopia, and orbital pain are the presenting symptoms encountered in patients with an intraorbital dermoid cyst.

Primary malignant giant cell tumor of the sternum.

Primary malignant giant cell tumor (PMGCT) is a diagnosis based on the presence of a high-grade sarcomatous component along with a typical benign giant cell tumor (GCT). We report the first case of PMGCT of the sternum in a 28-year-old male with painless swelling over the manubrium sterni. The differential diagnoses of PMGCT and giant cell-rich osteosarcoma were considered.

Xanthogranulomatous cystitis masquerading as bladder tumor in a child.

Xanthogranulomatous cystitis affecting the urinary bladder is extremely rare, and only around thirty adult cases and two pediatric cases have been reported in the literature. The treatment is predominantly surgical as the lesion is mostly infiltrative and mimics malignancy. We report probably the third pediatric case, who presented with symptoms of urinary tract infection and urinary retention and was initially suspected as bladder tumor on imaging.

Essential interpretations of bioinformatics in COVID-19 pandemic.

The currently emerging pathogen SARS-CoV-2 has produced the global pandemic crisis by causing COVID-19. The unique and novel genetic makeup of SARS-CoV-2 has created hurdles in biological research, due to which the potential drug/vaccine candidates have not yet been discovered by the scientific community. Meanwhile, the advantages of bioinformatics in viral research had created a milestone since last few decades.