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Frontiers in Genetics 2023Despite significant advances over the past decade, patients diagnosed with advanced colorectal cancer (CRC) continue to face unfavorable prognoses. Recent studies have...
Despite significant advances over the past decade, patients diagnosed with advanced colorectal cancer (CRC) continue to face unfavorable prognoses. Recent studies have underscored the pivotal role of lysosomes in tumor development and progression. This led us to postulate and develop a novel lysosomal-centric model for predicting CRC risk and therapeutic response. CRC tissue samples were sourced from the TCGA database, while lysosome-associated genes were collated from the GSEA database. Differentially expressed lysosome-related genes (DE-LRGs) were discerned by contrasting tumor samples with normal tissue. Based on the expression profile of DE-LRGs, patients were stratified into two distinct clusters. Survival disparities between the clusters were delineated using Kaplan-Meier estimators. For tumor microenvironment assessment, we employed ESTIMATE and ssGSEA. Functional pathway enrichment was ascertained using both GSVA and GSEA. Subsequent uni- and multi-variate Cox regression analyses pinpointed risk-associated DE-LRGs. Leveraging these genes, we constructed a novel risk prediction model and derived risk scores. The model's prognostic capability was externally validated using dataset GSE39084. The mutational landscape across risk categories was evaluated using the Maftools algorithm. The potential efficacy of targeted and immunotherapeutic interventions for each patient cohort was gauged using pRRophetic, CYT, and IMvigor210. We identified 46 DE-LRGs. Tumor Immune MicroEnvironment (TIME) assessment revealed that cluster 2 patients exhibited elevated ESTIMATE, Immunocore, and stromal scores, yet diminished tumor purity relative to cluster 1. Notable differences in immune cell infiltration patterns were observed between clusters, and distinct pathway enrichments were evident. Cluster 2 manifested a pronounced expression of immune checkpoint-related genes. Four DE-LRGs (ATP6V0A4, GLA, IDUA, and SLC11A1) were deemed critical for risk association, leading to the formulation of our novel risk model. The model exhibited commendable predictive accuracy, which was corroborated in an external validation cohort. A palpable survival advantage was observed in high-TMB, low-risk subgroups. Moreover, the low-risk cohort displayed heightened sensitivity to both targeted and immunotherapeutic agents. Our findings underscore the potential of lysosome-associated genes as robust prognostic and therapeutic response markers in CRC patients.
PubMed: 38075693
DOI: 10.3389/fgene.2023.1203035 -
The Canadian Veterinary Journal = La... Jan 2024A 6-year-old female huacaya alpaca was referred to the clinic for evaluation with a 1-month history of rapid weight loss, inappetence, lethargy, and severe leukocytosis...
A 6-year-old female huacaya alpaca was referred to the clinic for evaluation with a 1-month history of rapid weight loss, inappetence, lethargy, and severe leukocytosis refractory to medical management. Physical examination revealed a body condition score of 1 out of 5 and a large, firm structure palpable in the right caudoventral abdomen. Abdominal ultrasonographic examination revealed 3 masses with hyperechoic, swirling centers. The largest mass measured 15 cm in diameter with a 2-centimeter capsule, and extended from right of midline into the left inguinal region. Transrectal ultrasonography identified a small uterus and clear delineation between the abdominal masses. Complete blood (cell) count findings were consistent with marked systemic inflammation. Based on initial examination and laboratory findings, exploratory laparotomy was elected. Multiple mesenteric masses strongly adhered to the jejunum were observed within the abdomen. Due to the inoperable conditions and the poor long-term prognosis, the alpaca was euthanized under general anesthesia. Bacterial culture of fluid aspirated from the largest mass revealed . Key clinical message: Clinical progression and attempted treatment of in camelids have not been previously described and the bacterium should be considered as a differential diagnosis for abscessation and persistent leukocytosis. is also considered a zoonotic agent and proper precautions should be taken when handling cases of abdominal abscessation.
Topics: Female; Animals; Yersinia pseudotuberculosis; Camelids, New World; Leukocytosis; Laparotomy
PubMed: 38164383
DOI: No ID Found -
Cureus Dec 2023Breast fibroadenomas, common benign conditions, exhibit distinct clinical and histopathological features. This review highlights clinical presentation and histology... (Review)
Review
Breast fibroadenomas, common benign conditions, exhibit distinct clinical and histopathological features. This review highlights clinical presentation and histology correlations, providing insights for healthcare providers. Palpable masses, pain, and changes in breast appearance align with glandular and stromal components, emphasizing accurate diagnosis. Mammography, ultrasound, and MRI guide tailored treatment decisions. Challenges in differentiating atypical fibroadenomas highlight the need for meticulous histopathological evaluation. Clinical implications stress patient-centered care, shared decision-making, and ongoing follow-up. Future research focuses on genetic investigations and long-term studies. A multidisciplinary approach to breast fibroadenomas ensures comprehensive care for improved outcomes in both medical and emotional aspects.
PubMed: 38179396
DOI: 10.7759/cureus.49948 -
International Journal of Surgery Case... Oct 2023The first clinical presentation of a hernia developing along the Spigelian line had been reported by Klinkosch. The Belgian anatomist Adriaan van der Spieghel (Adrianus...
INTRODUCTION & IMPORTANCE
The first clinical presentation of a hernia developing along the Spigelian line had been reported by Klinkosch. The Belgian anatomist Adriaan van der Spieghel (Adrianus Spigelius) was the first to describe the semilunar line now known as the linea Spigeli in 1645. Spigelian hernias are rare and account for 1 % to 2 % of all abdominal wall hernias. Most of these hernia occurs in the lower abdomen where posterior sheath is deficient. The hernia ring is well defined defect in the transverse aponeurosis.
CASE PRESENTATION
A 60 year old female, presented with a palpable lump at the right lower quadrant of the abdomen since 7 month before her presentation.
CLINICAL DISCUSSION
For the first time the swelling is small and painless then gradually increase in size and associated with dull aching pain. The swelling was reducible with a defect of size 4 × 4 cm palpable in right iliac fossa. There was a positive cough impulse. The swelling was non tender. Other hernial orifices were normal. No inguinal lymphadenopathy noted. Abdominal ultrasonography done revealed a defect in abdominal wall in right iliac fossa with reducible bowel content. Depending on basis of clinical and investigations, a diagnosis of Spigelian hernia was made. After preparation for surgery, exploration done. The defect measuring 4 cm in length was identified and anatomical repair was done with nylon- 0, by suturing medial border of internal oblique and transverse abdominus muscle to the lateral border of rectum abdominal wall followed by hernioplasty by mesh.
CONCLUSION
Spigelian hernias are rare multifactorial disorder leading to defect in the transversus abdominis muscle in anterior abdominal wall. Spigelian hernias carry a significant risk of incarceration and strangulation of sac content. The management of spigelian hernias is almost always surgical which can be done in a traditional open fashion or laparoscopically.
PubMed: 37757738
DOI: 10.1016/j.ijscr.2023.108785 -
Journal of Medical Case Reports Dec 2023Accessory splenic tissue is a commonly encountered phenomenon in medical literature. Typically, these accessory spleens are found in close proximity to the main spleen,...
BACKGROUND
Accessory splenic tissue is a commonly encountered phenomenon in medical literature. Typically, these accessory spleens are found in close proximity to the main spleen, either in the hilum or within the surrounding ligaments. Nevertheless, it is noteworthy that they can also be located in unusual sites such as the jejunum wall, mesentery, pelvis, and, exceptionally rarely, the scrotum. The first documented case of accessory splenic tissue in the scrotum was reported by Sneath in 1913 and is associated with a rare congenital anomaly called splenogonadal fusion. This report describes an infant who presented with a scrotal mass noted by his mother and after examination, investigations, and surgical exploration, it was revealed to be splenogonadal fusion.
CASE DESCRIPTION
An 8-month-old Caucasian male patient presented with a mass in the left testicle and bluish discoloration of the scrotum, which had been incidentally noticed in the previous 2 months. The general physical examination was unremarkable. Other than a palpable scrotal mass that was related to the upper pole of the testis, the rest of examination was unremarkable. Imaging revealed that this mass originated from the tail of the epididymis without infiltrating the testis and tumor markers were normal. On inguinal exploration, a reddish brown 2 × 2 cm mass was found attached to the upper pole and was completely excised without causing any harm to the testis, vessels, or epididymis. Histopathological evaluation confirmed the presence of intratesticular ectopic splenic tissue.
CONCLUSION
Although uncommon, splenogonadal fusion can be included in the differential diagnosis of a testicular swelling. Accurate diagnosis allows for appropriate treatment planning which helps to avoid unnecessary radical orchiectomy, which can have a significant impact on the patient's reproductive and psychological wellbeing.
Topics: Infant; Humans; Male; Testis; Splenic Diseases; Orchiectomy; Scrotum; Digestive System Abnormalities
PubMed: 38098099
DOI: 10.1186/s13256-023-04241-0 -
The Kaohsiung Journal of Medical... Jun 2024Palpable purpura, gastrointestinal symptoms, joint involvement, and renal disease characterize immunoglobulin A vasculitis (IgAV). Renal involvement ranging from mild... (Review)
Review
Palpable purpura, gastrointestinal symptoms, joint involvement, and renal disease characterize immunoglobulin A vasculitis (IgAV). Renal involvement ranging from mild proteinuria to severe nephritic or nephrotic syndrome highlights the importance of monitoring kidney function in patients with IgAV. Recognizing these key features is crucial for early diagnosis and appropriate management to prevent long-term complications related to kidney disease. However, the pathogenesis of IgAV remains unclear. Disease mechanisms involve various factors, including the interplay of aberrantly glycosylated IgA, anti-endothelial cell antibodies, and neutrophils following infection triggers, which are the main pathogenic mechanisms of IgAV. Insights from cases of IgAV related to Coronavirus disease 2019 have offered additional understanding of the connection between infection and IgAV pathogenesis. This review provides a valuable resource for healthcare professionals and rheumatology researchers seeking a better understanding of the clinical features and pathophysiology of IgAV.
PubMed: 38828518
DOI: 10.1002/kjm2.12852 -
Cureus Jul 2023Leukocytoclastic vasculitis, also known as hypersensitivity angiitis, is a cutaneous, small vessel vasculitis of the dermal capillaries and venules. The predominant...
Leukocytoclastic vasculitis, also known as hypersensitivity angiitis, is a cutaneous, small vessel vasculitis of the dermal capillaries and venules. The predominant clinical presentation is palpable purpura. Multiple medications can cause leukocytoclastic vasculitis, as well as autoimmune diseases, infections, and malignancy. The disease process may be limited to only the skin or a manifestation of a systemic vasculitis or process. Treatment is centered on symptom management. Our patient is a 60-year-old female who presented with bilateral dry and wet tender ulcerations. She was previously treated with paclizumab.
PubMed: 37575740
DOI: 10.7759/cureus.41736 -
Translational Breast Cancer Research :... 2024With an increasing number of non-palpable breast lesions detected due to improved screening, accurate localization of these lesions for surgery is crucial. This... (Review)
Review
BACKGROUND AND OBJECTIVE
With an increasing number of non-palpable breast lesions detected due to improved screening, accurate localization of these lesions for surgery is crucial. This literature review explores the evolution of localization methods for non-palpable breast lesions, highlighting the translational journey from concept to clinical practice.
METHODS
A comprehensive search of PubMed, Embase, and Scopus databases until September 2023 was conducted.
KEY CONTENT AND FINDINGS
Multiple methods have been developed throughout the past few decades. (I) Wire-guided localization (WGL) introduced in 1966, has become a reliable method for localization. Its simplicity and cost-effectiveness are its key advantages, but challenges include logistical constraints, patient discomfort, and potential wire migration. (II) Intraoperative ultrasound localization (IOUS) has shown promise in ensuring complete lesion removal with higher negative margin rates. However, its utility is limited to lesions visible on ultrasound (US) imaging. (III) Breast biopsy marker localization: the use of markers has improved the precision of localization without the need for wire. However, marker visibility remains a challenge despite improvements in their design. (IV) Radioactive techniques: radio-guided occult lesion localization (ROLL) and radioactive seed localization (RSL) offer flexibility in scheduling and improved patient comfort. However, they require close multidisciplinary collaboration and specific equipment due to radioactive concerns. (V) Other wireless non-radioactive techniques: wireless non-radioactive techniques have been developed in recent three decades to provide flexible and patient-friendly alternatives. It includes magnetic seed localization, radar techniques, and radiofrequency techniques. Their usage has been gaining popularity due to their safety profile and allowance of more flexible scheduling. However, their high cost and need for additional training remain a barrier to a wider adoption.
CONCLUSIONS
The evolution of breast lesion localization methods has progressed to more patient-friendly techniques, each with its unique advantages and limitations. Future research on patient-reported outcomes, cosmetic outcomes, breast biopsy markers and integration of augmented reality with breast lesion localization are needed.
PubMed: 38751684
DOI: 10.21037/tbcr-23-49