Patient-derived tumor organoids (PDTOs) represent a significant advancement in cancer research and personalized medicine. These organoids, derived from various cancer types, have shown the ability to retain the genetic and molecular characteristics of the original tumors, allowing for the detailed study of tumor biology and drug responses on an individual basis. The success rates of establishing PDTOs vary widely and are influenced by factors such as cancer type, tissue quality, and media composition.
View Article and Find Full Text PDFBackground: Preconception expanded carrier screening (ECS) is a genetic test that enables the identification of at-risk carriers of recessive disorders by screening for up to hundreds of genes. Next-generation sequencing (NGS) development has paved the way for its integration into ECS. This study aims to identify the carrier genetic status of couples experiencing or anticipating conception challenges through NGS-based ECS and to gain an overview of the rare genetic disorders in a population with increased consanguinity.
View Article and Find Full Text PDFBackground: Rare genetic disorders may result in death before a definitive clinical diagnosis is established.
Aim: This study aims to outline the processes and challenges in managing, from a genetic perspective, couples who lost children affected by rare genetic disorders.
Results: Six couples who experienced child loss due to rare genetic disorders, seen by the primary author at genetic evaluation and counseling sessions, were retrospectively analyzed.
Ectopic breast tissue (EBT) is relatively common and can occur along the milk line or mammary ridge and often outside this line. We report a case of a female patient presenting with a suprapubic mass for 2 years, found later to be EBT containing a fibroadenoma. We believe this is a very rare finding.
View Article and Find Full Text PDFMultiple primaries in patients with prostate cancer are uncommon. We report a case of prostate adenocarcinoma who did not receive any form of treatment, diagnosed 7 months later with colon adenocarcinoma. The patient underwent right extended hemicolectomy and recovered well.
View Article and Find Full Text PDFThis is a case series of five patients with acute abdomen requiring surgery who tested positive for coronavirus disease 2019 (COVID-19) and were asymptomatic, with the purpose of detection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in peritoneal fluid. Nasopharyngeal swab was done as a prerequisite for admission or prior to admission as part of random testing. Two methods of viral testing were employed: Xpert® Xpress SARS-CoV-2 (rapid test) and real-time reverse transcription polymerase chain reaction (RT-PCR).
View Article and Find Full Text PDFObjectives: To investigate whether the incidence of acute appendicitis increases in summer and whether complicated cases present more in summer.
Methods: A single-center cross-sectional, retrospective study on 697 cases of appendicitis admitted in the year 2018. Inclusion criteria: patients admitted with acute appendicitis who underwent appendectomy of all ages.
COVID-19 mainly causes pulmonary disease. Involvement of gastrointestinal and hepatobiliary systems, among other systems, has been reported. We report a case of acute pancreatitis in a patient with resolving COVID-19 pneumonia.
View Article and Find Full Text PDFThis is a case of a 14-year-old woman diagnosed with acute pancreatitis based on history and laboratory investigations. CT scan confirmed the diagnosis of acute pancreatitis along with the presence of two bezoars in the stomach and proximal jejunum. Gastroscopy showed a large trichobezoar with difficult endoscopic extraction.
View Article and Find Full Text PDFThis is a case of an 8-year-old girl who was previously healthy and presented with unresponsiveness on a background of fever that resolved within 2 days of onset. History was significant for recurrent dental abscesses requiring drainage. Imaging revealed what was unexpected: a brain overloaded with multiple space-occupying lesions and diffuse oedema.
View Article and Find Full Text PDF