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Original Article Open Access
Michelle L. Nuylan, Cynthia A. Mapua, Loraine Kay D. Cabral, Edgardo R. Cortez, Caecilia H.C. Sukowati, Filipinas F. Natividad, Ma. Luisa D. Enriquez
Published online July 12, 2024
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Gene Expression. doi:10.14218/GE.2023.00097
Abstract
The activation of the Kirsten RAS (KRAS) oncogene is one of the factors responsible for the transition from intermediate adenoma to carcinoma in the colon. Approximately 30% to [...] Read more.

The activation of the Kirsten RAS (KRAS) oncogene is one of the factors responsible for the transition from intermediate adenoma to carcinoma in the colon. Approximately 30% to 60% of mutations in colorectal cancer (CRC) occur in the hotspot codons 12 and 13 of exon 1 and codon 61 of exon 2. This study aimed to characterize mutations of the KRAS gene among Filipinos with CRC.

Paired frozen normal and tumor tissues from 35 CRC patients who underwent surgical resection were included. Genomic DNA was extracted, and all five coding exons were amplified by polymerase chain reaction, followed by mutation screening using denaturing high-performance liquid chromatography and DNA sequencing.

From sequencing, 18/35 (51%) samples showed mutations in exon 1 (A11R, G13C, L19W, and silent mutation L23), exon 2 (D54H), and codon 4B (silent mutation D173). Nine mutations could be considered pathogenic as they occurred within the conserved region, potentially contributing to the oncogenic potential of KRAS. Eight of these mutations were also found outside the hotspot region of the KRAS gene. Mutations were significantly associated with tumor stage III (p = 0.007) but not with other clinical parameters or survival.

This study characterizes KRAS mutations in Filipino patients with CRC, suggesting a possible difference in their cancer genetic profiles. Additionally, the use of easily accessible mutation screening techniques, such as denaturing high-performance liquid chromatography, may help increase reports of mutational profiles in Southeast Asian populations.

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Letter to the Editor Open Access
David Yardeni, Asif Hitawala, Lilian Howard, Theo Heller, Meryl Waldman
Published online July 19, 2024
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Journal of Clinical and Translational Hepatology. doi:10.14218/JCTH.2024.00169
Original Article Open Access
Andrés Tirado-Sánchez, Alexandro Bonifaz, Javier Araiza, Sofía Beutelspacher
Published online August 28, 2024
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Journal of Clinical and Translational Pathology. doi:10.14218/JCTP.2023.00060
Abstract
Nail psoriasis is common in patients with plaque psoriasis and is associated with morbidity, including onychomycosis, which can complicate psoriasis treatments and be difficult [...] Read more.

Nail psoriasis is common in patients with plaque psoriasis and is associated with morbidity, including onychomycosis, which can complicate psoriasis treatments and be difficult to differentiate. Matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry is a fast and simple technique for identifying microorganisms through protein analysis. This study aimed to determine the sensitivity and specificity of MALDI-TOF for diagnosing onychomycosis in patients with nail psoriasis, by using conventional mycological and histological methods as the reference standard.

A prospective study was conducted on 88 patients with clinically and histopathologically confirmed nail psoriasis. One hundred nail samples were obtained for direct examination, fungal culture, and mass spectrometry. None of the patients were receiving antifungal or systemic immunosuppressive therapy at the time of sampling.

Potassium hydroxide preparation and fungal culture were positive in 58 out of 100 nail samples from patients with psoriasis. MALDI-TOF identified onychomycosis in 68 out of 100 samples, distinguishing these cases from nail psoriasis without onychomycosis (32 out of 100). An excellent correlation (0.95) was found between MALDI-TOF and conventional onychomycosis diagnostic methods. The sensitivity and specificity of MALDI-TOF for diagnosing onychomycosis in patients with psoriatic nails were 95.4% and 97.5%, respectively.

MALDI-TOF can be used to accurately differentiate cases of nail psoriasis without infection from those with onychomycosis.

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Review Article Open Access
Alexandra Mendelsohn, Alanna Greenberger, Robert D. Friedberg
Published online September 19, 2024
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Exploratory Research and Hypothesis in Medicine. doi:10.14218/ERHM.2024.00004
Abstract
Over the course of the COVID-19 pandemic and its aftermath, growing concerns have emerged about the mental health of children and youth. Disease, loss, and lockdowns presented young [...] Read more.

Over the course of the COVID-19 pandemic and its aftermath, growing concerns have emerged about the mental health of children and youth. Disease, loss, and lockdowns presented young people with enormous stressors, and much research suggests elevated levels of pediatric depression, anxiety, suicidality, and obsessive-compulsive behavior. However, considerable debate remains about the nature and persistence of these symptoms. This narrative review, conducted approximately four years after the onset of the pandemic, summarizes the major findings from four years of research, including empirical studies, meta-analyses, and systematic reviews. Studies were sourced from scholarly databases using the keywords “COVID-19”, “children”, “adolescents”, and “mental health”. The existing literature on the prevalence of depression in youth indicated that worldwide rates varied from 2.2% to 11.8% of the population, with one study revealing that one in four young people reported depressive symptoms. More specifically, 44% of youth in the United States demonstrated depression, while in China, the prevalence rate ranged from 11% to 44% of young people. Reviewed data showed that 20% of youth globally endorsed symptoms of anxiety or stress reactions, with countries such as Denmark (44%), Canada (45%), and the United States (32%) reporting extremely high rates. In the implications section, recommendations for screening and intervention procedures are outlined.

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Original Article Open Access
Kayla Brice, Candice Arline, Luis E. Raez, Katerine Dumais, Mark Block
Published online September 25, 2024
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Journal of Clinical and Translational Pathology. doi:10.14218/JCTP.2024.00021
Abstract
Tumor molecular analysis using next-generation sequencing (NGS) is the standard of care for guiding lung cancer treatment. Endobronchial ultrasound-guided transbronchial needle [...] Read more.

Tumor molecular analysis using next-generation sequencing (NGS) is the standard of care for guiding lung cancer treatment. Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is a minimally invasive technique used to sample mediastinal lymph nodes for diagnosing and staging lung cancer. This study aimed to determine if EBUS-TBNA provided adequate tissue samples for NGS.

We evaluated EBUS-TBNA samples from adult advanced non-small cell lung cancer patients who had both EBUS-TBNA and liquid biopsy samples analyzed by NGS between July 1, 2015 and June 30, 2021. Additionally, we compared the results with those from liquid biopsies performed on these patients.

Among the 44 evaluated patients, 43% were male, with a median age of 66 years at diagnosis. Seventy-five percent were smokers, 79.5% were White, 6.8% were Black, and 9.1% were Asian. EBUS-TBNA samples were sufficient for NGS in 95.5% of cases. The median turnaround time for EBUS-TBNA NGS was 38.5 days compared with eight days for NGS in liquid biopsies. Actionable genetic aberrations were detected in 71% of patients.

Our findings demonstrated that EBUS-TBNA provided sufficient tissue for identifying actionable genetic aberrations in patients with advanced non-small cell lung cancer.

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Review Article Open Access
Xiulin Hu, Congjia Ma, Xiangyu Kong
Published online September 25, 2024
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Cancer Screening and Prevention. doi:10.14218/CSP.2024.00017
Abstract
Pancreatic ductal adenocarcinoma (PDAC) is an aggressive disease with difficulties in early diagnosis, poor prognosis, and limited effective therapies. Early detection and effective [...] Read more.

Pancreatic ductal adenocarcinoma (PDAC) is an aggressive disease with difficulties in early diagnosis, poor prognosis, and limited effective therapies. Early detection and effective treatment offer the optimal chance to improve survival rates. Various studies have shown that gut microbiota dysbiosis is closely related to PDAC, with potential mechanism involving immune regulation, metabolic process impact, and reshaping the tumor microenvironment. A comprehensive understanding of the microbiota in PDAC might lead to the establishment of screening or early-stage diagnosis methods, implementation of cancer bacteriotherapy such as fecal microbiota transplantation, creating new opportunities and fostering hope for desperate PDAC patients.

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Original Article Open Access
Arshad A. Pandith, Usma Manzoor, Ina Amin, Shayaq Ul Abeer Rasool, Zahoor A. Wani, Iqbal Qasim, Saima Wani, Iqra Anwar, Shayesta Rah, Masarat Rashid, Adil Lateef, Aabida Ahmad
Published online June 12, 2024
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Gene Expression. doi:10.14218/GE.2023.00144
Abstract
HLA-G gene harbors certain polymorphic variations that can potentially impact its biological activity, and therefore, may confer a risk for recurrent pregnancy loss (RPL). This [...] Read more.

HLA-G gene harbors certain polymorphic variations that can potentially impact its biological activity, and therefore, may confer a risk for recurrent pregnancy loss (RPL). This study aimed to analyze whether HLA-G polymorphic variations (G*0103, G*0104, and G0105N) are related to the risk of RPL in women from Kashmir, North India.

A total of 200 women who suffered ≥2 RPLs and 240 healthy controls were recruited from the same geographical region. Additionally, 100 spouses of RPL affected women and 60 products of conception were evaluated. HLA-G genotyping was performed using the polymerase chain reaction-restriction fragment length polymorphism method.

The variant genotype 0103:0103 in exon 2 of HLA-G was not detected. The genotype 0104/0105 was detected in 100% of RPL patients, spouses, and controls. Exon 2 and variant genotypes G*0103 in exon 2 and G*0105 in exon 3 of HLA-G were absent in our population and thus did not contribute to the etiopathogenesis of RPL. In contrast, the exon 3 HLA-G variant G*0104N was significantly more frequent in RPL patients and their spouses compared to the control group (p<0.05). The presence of the HLA-G variant genotype G*0104N (exon 3) was detected in 13% of RPL patients and 7% of their male partners, indicating a significantly higher frequency than in controls and suggesting a substantial risk for RPL (p<0.05).

This study revealed that the higher frequency of the HLA-G*0104 allele in both partners strongly predicted a substantial risk for RPL in our population.

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Hot Topic Commentary Open Access
Danzhu Zhao, George Y. Wu
Published online November 8, 2024
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Journal of Clinical and Translational Hepatology. doi:10.14218/JCTH.2024.00265
Review Article Open Access
Zhuoya Sun, Lupeng Qiu, Xiao Zhao, Shunchang Jiao
Published online June 25, 2024
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Oncology Advances. doi:10.14218/OnA.2023.00043
Abstract
The tumor microenvironment is a dynamic cellular landscape critical to cancer progression. Within it, tumor-infiltrating lymphocytes hold a dual role, contributing to both tumor [...] Read more.

The tumor microenvironment is a dynamic cellular landscape critical to cancer progression. Within it, tumor-infiltrating lymphocytes hold a dual role, contributing to both tumor suppression and progression. This review synthesized current knowledge on tumor-infiltrating lymphocytes, emphasizing their prognostic significance and therapeutic potential. By dissecting their interactions within the tumor microenvironment and with cancer cells, we sought to uncover the complexities of the immune response in cancer and explored the future direction of immunotherapeutic strategies.

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Original Article Open Access
Xin Ji, Hong Chen
Published online March 29, 2024
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Cancer Screening and Prevention. doi:10.14218/CSP.2024.00002
Abstract
Currently, the mechanism of occurrence and development of colonic polyps and colonic cancer has not been fully elucidated. Previous studies have shown a certain relationship between [...] Read more.

Currently, the mechanism of occurrence and development of colonic polyps and colonic cancer has not been fully elucidated. Previous studies have shown a certain relationship between bile acid (BA) profile and the development of colonic cancer. Through an analysis of the relationship between alterations in the serum BA profile and colonic neoplasms, this study sought to develop new biomarkers for assessing the risk of colon illnesses and offer fresh perspectives for identifying treatment targets.

The study encompassed 135 individuals who showed no abnormalities during colonoscopy, 204 patients with colonic polyps, and 92 patients with colonic cancer, all diagnosed and treated at Zhongda Hospital, Southeast University, from January 1, 2022, to June 1, 2023. Serum BA profiles, liver function, and clinical data were collected for statistical analysis.

The concentration of deoxycholic acid in patients with colonic neoplasms was lower than that in the control group, whereas levels of taurocholic acid, taurochenodeoxycholic acid, and glycochenodeoxycholic acid were significantly higher in the colonic neoplasms group than in the control group (P < 0.05). Subgroup analysis revealed that there were statistical differences in the content of cholic acid, ursodeoxycholic acid, and glycoursodeoxycholic acid among different pathological types of colonic neoplasms. Logistic regression analysis indicated a negative correlation between the concentration of glycodeoxycholic acid and the risk of developing colonic neoplasms.

Compared with the normal population, the serum BA profile of colonic neoplasms patients has changed. Patients with colonic neoplasms exhibit elevated levels of primary conjugated BAs and decreased levels of secondary free BA (deoxycholic acid).

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