Significant Difference In Frequency Research Articles

Acquired dysfunction of CFTR underlies cystic fibrosis-like disease of the canine gallbladder.

Mucocele formation in dogs is a unique and enigmatic muco-obstructive disease of the gallbladder caused by the amassment of abnormal mucus that bears striking pathological similarity to cystic fibrosis. We investigated the role of cystic fibrosis transmembrane conductance regulatory protein (CFTR) in the pathogenesis of this disease. The location and frequency of disease-associated variants in the coding region of CFTR were compared using whole genome sequence data from 2,642 dogs representing breeds at low-risk, high-risk, or with confirmed disease. Expression, localization, and ion transport activity of CFTR were quantified in control and mucocele gallbladders by NanoString, Western blotting, immunofluorescence imaging, and studies in Ussing chambers. Our results establish a significant loss of CFTR-dependent anion secretion by mucocele gallbladder mucosa. A significantly lower quantity of CFTR protein was demonstrated relative to E-cadherin in mucocele compared with control gallbladder mucosa. Immunofluorescence identified CFTR along the apical membrane of epithelial cells in control gallbladders but not in mucocele gallbladder epithelium. Decreases in mRNA copy number for CFTR were accompanied by decreases in mRNA for the Cl-/[Formula: see text] exchanger SLC26A3, K+ channels (KCNQ1, KCNN4), and vasoactive intestinal polypeptide receptor (VIPR1), which suggest a driving force for change in secretory function of gallbladder epithelial cells in the pathogenesis of mucocele formation. There were no significant differences in CFTR gene variant frequency, type, or predicted impact comparing low-risk, high-risk, and definitively diagnosed groups of dogs. This study describes a unique, naturally occurring muco-obstructive disease of the canine gallbladder, with uncanny similarity to cystic fibrosis, and driven by the underlying failure of CFTR function.NEW & NOTEWORTHY Cystic fibrosis transmembrane conductance regulatory protein (CFTR) genomic variants and expression of mRNA, protein, and electrogenic anion secretory activity of CFTR were characterized in dog gallbladder. Acquired inhibition of CFTR expression by gallbladder epithelium was identified as underpinning a naturally occurring muco-obstructive disease of the dog gallbladder that bears striking pathological similarity to animal models of cystic fibrosis.

Genetic variation of FUT3 gene in the Han population from Northern China.

The FUT3 gene encodes α(1,3/1,4)-fucosyltransferase, which is a crucial enzyme in the synthesis of Lewis antigens. FUT3 gene variants show race-specific differences. In this study, we conducted a systematic sequence analysis of the FUT3 coding sequence. The objective was to explore genetic variations of the FUT3 gene within the Han population of Northern China. A cohort of 313 blood donors was recruited for the study. The coding sequence of the FUT3 gene was amplified using polymerase chain reaction, followed by sequencing and haplotype construction. Twelve single nucleotide variations (SNVs) were identified within the coding sequence of the FUT3 gene. Notably, the c.59 T > G site exhibited the highest mutation frequency of 43.13%, followed by the c.508G > A and c.1067 T > A sites with mutation frequencies of 27.48% and 16.93%, respectively. Le was the most common haplotype, accounting for 67.57% of the cases, and Le/Le was the most common diplotype, accounting for 46.33% of the cases. The study also highlighted a significant difference in mutation frequencies of FUT3 gene between the Han Chinese of Northern China and the Dai of Xishuangbanna, China, but not the Han Chinese in Beijing in the North and the Southern Han Chinese, emphasising that Han Chinese in Northern China are genetically most distant from Europeans and closest to East Asians. Our study characterises FUT3 gene variations in Han Chinese from Northern China, and provides basic genetic data for genetics, forensic medicine, and genotyping of Lewis blood groups.

Leisure class stratification among Chinese residents: Evidence from the CGSS

Amidst rapid societal progression in China, leisure has become a crucial component of Chinese residents’ daily lives. However, the unequal distribution of social resources across social strata significantly affects their leisure patterns and practices. This study utilizes data from the Chinese General Social Survey (CGSS) spanning 2006, 2010, and 2017, analyzing the frequency and types of leisure engagement as dependent variables through mean, variance, and OLS regression analyses. The findings indicate considerable leisure stratification within Chinese society, both subjectively and objectively; there are significant differences in leisure participation frequency and type among different social strata, particularly in developed leisure activities. The conclusions of this study may aid in understanding the current state of leisure class stratification among Chinese residents, while its practical recommendations could help mitigate the issues of leisure stratification within Chinese society.

Boric acid toxic sugar bait suppresses male Aedes aegypti (Diptera: Culicidae): wing beat frequency and amplitude, flight activity, fecundity, insemination, and mate-finding Allee effect.

Controlling the spread of arboviral diseases remains a considerable challenge due to the rapid development of insecticide resistance in Aedes mosquitoes. This study evaluated the effects of boric acid-containing toxic sugar bait (TSB) on field populations of resistant Aedes aegypti mosquitoes. In addition, this study examined the flight activity and wing beat frequency and amplitude of males and the flight activity, fecundity, and insemination of females after pairing with males exposed to TSB. The population dynamics of Aedes mosquitoes under imbalanced sex ratios were examined to simulate realistic field conditions for male suppression under the effect of TSB. The mortality of male mosquitoes was consistently high within 24 h after exposure. By contrast, the mortality of female mosquitoes was inconsistent, with over 70% mortality observed at 168 h. The flight activity and wing beat amplitude of treated males were significantly lower than those of controls, but no significant difference in wing beat frequency was detected. The fecundity and insemination of treated female mosquitoes were lower than those of controls. A simulation study indicated that considerably low male population densities led to mating failures, triggering a mate-finding Allee effect and resulting in persistently low population levels. Boric acid-containing TSB could effectively complement current chemical intervention approaches to control resistant mosquito populations. TSB is effective in reducing field male populations and impairing male flight activity and female-seeking behavior, resulting in decreased fecundity and insemination. Male suppression due to TSB potentially results in a small mosquito population. © 2024 Society of Chemical Industry.

Frequency of and sex differences in cancer treatment-related cardiac dysfunction in trastuzumab-treated patients with salivary gland cancer: a retrospective cohort study

BackgroundTrastuzumab treatment for salivary gland, gastric, and breast cancer commonly causes cancer treatment-related cardiac dysfunction (CTRCD). CTRCD incidence by sex has not been well studied.MethodsThis retrospective cohort study investigated frequency of and sex differences in CTRCD in patients with salivary gland cancer treated with trastuzumab at our hospital from April 2017 to March 2022. All patients underwent echocardiography at baseline and after the first, third, and sixth trastuzumab courses. We measured changes in global and regional longitudinal strain (LS) after trastuzumab administration. CTRCD was defined by left ventricular ejection fraction (LVEF) or global LS (GLS). The results were compared by sex.ResultsWe recorded clinical data of 49 patients (median age [IQR], 65 [55–71] years; males [75.5%]). The median follow-up period after the sixth trastuzumab course was 120 (111–128) days. One female patient and no male patient had CTRCD defined by LVEF, and two female patients (16.7%) and seven male patients (18.9%) had CTRCD, defined by GLS. The Kaplan–Meier curves showed no significant difference in CTRCD frequency, defined by GLS (log-rank, p = 0.88), between female and male patients. In the univariate analysis, sex was not associated with CTRCD, defined by GLS. A significant difference in apical LS was observed between baseline and the third follow-up results of male patients.ConclusionsIn this study, CTRCD incidence was not significantly different between male and female patients with salivary gland cancer treated with trastuzumab. Although most previous studies have looked at female patients with breast cancer, a male patient may be found to be at similar risk of myocardial damage.

Knowledge Gaps Identified in a Survey of Maine Physicians' Firearm Safety Counseling Practices.

Numerous medical associations have identified firearm injuries as a public health issue, calling on physicians to provide firearm safety counseling. Data suggest that while many physicians agree with this, few routinely screen and provide counseling. We aimed to survey Maine physicians to assess their current firearm safety counseling practices and knowledge of a new state child access prevention (CAP) law. We conducted an anonymous cross-sectional survey of Maine primary care and psychiatry physicians. We recruited multiple statewide medical organizations, residency programs, and two major health systems to distribute the survey to their membership. Group differences were compared by physician rurality and years in practice using Fisher's Exact and Chi Squared tests. Ninety-five surveys were completed. Though most participants agreed that firearm injury is an important public health issue that physicians can positively affect (92%), few had received prior firearm safety counseling education (27%). There were significant differences in firearm screening frequency, with rural physicians screening more often. More rural physicians and physicians with > 10 years of clinical practice felt they had adequate knowledge to provide meaningful counseling, compared with non-rural and early career physicians, respectively. Overall, 62% of participants were unaware of the 2021 Maine CAP law. This study highlights significant differences in firearm safety counseling practices among Maine physicians based on rurality and years of experience. Participants also reported a significant gap in knowledge of a recent state child access prevention law. Next steps include development of firearm safety counseling education tailored to Maine physicians.

Efficacy of Two Kinds of Scissor-Type Knives for Colorectal Endoscopic Submucosal Dissection: A Retrospective Comparative Study.

Scissor-type knives are spreading as safe devises in endoscopic submucosal dissection (ESD). We evaluated the efficacy of two kinds of scissor-type knives (Clutch Cutter: CC, Fujifilm Co.and SB Knife Jr2: SB, SB-KAWASUMI Laboratories. Inc.) in colorectal ESD. This single-center retrospective study analyzed 178 ESD cases treated with CC from January 2020 to August 2021 and 91 cases with SB from September 2021 to December 2023. The two groups were compared through propensity score matching. Therapeutic results, such as ESD procedure time, en bloc resection rate, perioperative bleeding frequency, and complications, were analyzed in each group. Risk factors for long ESD procedure time (≥ 90min) were also examined. After matching, 87 cases in each group were analyzed. There was no significant difference in the ESD procedure time (min, median [interquartile range]) between the CC and SB groups (54.0 [36.0-72.0] vs. 53.0 [39.0-72.0], p = 0.99). Additionally, there were no differences in the en bloc resection (100% vs. 100%, p = 1.00), perioperative perforation (1.1% vs. 1.1%, p = 1.00), or delayed bleeding (1.1% vs. 0.0%, p = 1.00). There was a significant difference in perioperative bleeding frequency (mean ± standard deviation: 1.8 ± 2.6 vs. 3.0 ± 3.5, p < 0.01). The significant risk factors (odds ratio [95% confidence interval]) for long ESD procedure time in patients treated with CC or SB were antiplatelet (7.51 [1.82-31.00]), large lesion size (1.08 [1.05-1.12]), severe fibrosis (24.30 [7.60-77.90]), and perioperative bleeding frequency (1.34 [1.14-1.56]). CC and SB in colorectal ESD enabled high en bloc resection and low complication rates. CC showed significantly less perioperative bleeding than SB.

P-304 Quantitative analysis of uterine peristalsis using optical flow for motion quantification in women with moderate/severe adenomyosis undergoing frozen-thawed embryo transfer following prolonged downregulation with GnRHanalogue

Abstract Study question What is the impact of prolonged downregulation with GnRH analogue (GnRHa) on uterine peristalsis in women with moderate/severe adenomyosis undergoing frozen-thawed embryo transfer? Summary answer Women with moderate/severe adenomyosis have lower coordination of uterine peristalsis and myometrial contractility; prolonged downregulation with GnRHa appears to offer benefit. What is known already Adenomyosis can adversely reduce the chance of pregnancy in women undergoing assisted conception, with altered uterine peristalsis proposed as a mechanism. We aimed to i) develop an objective tool to quantify uterine peristalsis on transvaginal sonography(TVS) using an algorithm based on optical flow for wave motion quantification, ii) compare uterine peristalsis between women with a normal uterus and women with moderate/severe adenomyosis, iii) evaluate the impact of prolonged downregulation with GnRH analogue for 6 weeks vs 1 week on uterine peristalsis in women with moderate/severe adenomyosis undergoing frozen-thawed embryo transfer within the MODA RCT (Modified Downregulation for Adenomyosis). Study design, size, duration Prospective observational cohort study(July 2021–Jan 2024) in women with moderate/severe adenomyosis(n = 26) and a normal uterus(n = 40) having TVS during assisted conception. Participants/materials, setting, methods We included women with moderate/severe adenomyosis or a normal uterus undergoing assisted conception.TVS was performed at baseline(BL),day 6-10 of ovarian stimulation(OS) and day of embryo transfer(ET)by three observers(A/B/C)to assess inter-/intra-observer agreement. TVS recordings(n = 146) were stored offline for optical flow analysis using 3D Slicer(Ver. 4.11). Pixel-level displacements for points at endometrial-myometrial junction(EMJ)and myometrium were used to compute frequency(f) and amplitude(u) by fitting to the 2D-wave equation, fit error was taken as a measure of coordination. Main results and the role of chance We recruited 66 women with moderate/severe adenomyosis (n = 26) or a normal uterus (n = 40) undergoing assisted conception. Uterine peristalsis at the EMJ in women with adenomyosis showed a significantly poorer fit with the ideal wave equation and a significantly higher fit error compared to women with normal uterus at all time points (BL (+ 0.649), OS (+ 0.630), ET (+ 0.685) (n = 66, p&amp;lt;0.001), indicating lower coordination of uterine peristalsis in women with adenomyosis compared to women with a normal uterus. Fit error of myometrial contractility was also significantly lower in women with adenomyosis at all time points (BL (+ 0.656), OS (+ 0.510) and ET (+ 0.639) (n = 66, p &amp;lt; 0.001). There was no significant difference in wave amplitude or frequency in women with adenomyosis compared to women with a normal uterus (p &amp;gt; 0.06). Women with moderate/severe adenomyosis exposed to prolonged downregulation with GnRH analogue for 6 weeks had lower fit error of uterine peristalsis (UP) and myometrial contractility (MC) on the day of embryo transfer compared to women receiving 1 week GnRH analogue (UP ET(+0.615) (n = 19, p = 0.058) (MC ET(+4.28) (n = 19, p &amp;lt; 0.05). Inter- and intra-observer agreement was found to be moderate to substantial across all wave features(ICC 0.58-0.79). Limitations, reasons for caution There is a need to recruit a larger cohort of patients and correlate wave features with clinical outcomes to increase the robustness of the conclusions drawn in this study. Wider implications of the findings Our algorithm for wave motion quantification offers an objective,reproducible measuring tool to quantify uterine peristalsis with potential for wide clinical application.Women with adenomyosis have higher fit error and lower coordination of uterine peristalsis and myometrial contractility,which may account for their reduction in chances of conception.Prolonged GnRHa appears to offer benefit. Trial registration number N/A

An investigation of sleep problems, gastrointestinal symptoms, comorbid psychopathology and challenging behavior in children and adolescents with Down Syndrome

BackgroundDown syndrome (DS) is one of the most common chromosomal abnormalities, and children with DS have increased risks of receiving diagnoses of specific comorbidities. AimsThis study aimed to assess the frequencies and relationships between sleep problems, gastrointestinal (GI) symptoms, comorbid psychopathology, and challenging behavior. Methods and proceduresThe Children’s Sleep Habits Questionnaire, Gastrointestinal Symptom Inventory, Autism Spectrum Disorder-Comorbid for Children, and Behavior Problems Inventory-Short Form were completed by 123 parents of children and adolescents with DS. Outcomes and resultsThe frequency of GI symptoms was 74.8 %, with high frequencies also found for: sleep problems (100 %), challenging behavior (100 %), and moderate to severe levels of comorbid psychopathology (tantrum=80 %; repetitive behavior=63 %; avoidant behavior=82 %; worry/depressed=61 %; conduct behavior=100 %; over-eating=100 %; under-eating=100 %). A significant moderate correlation was found between total GI symptoms and self-injurious behavior frequency. Children who presented with abdominal pain engaged in self-injurious behavior more frequently than those with no abdominal pain. Conclusions and implicationsFindings indicated a high frequency of sleep problems, comorbid psychopathology, GI symptoms, and challenging behavior and demonstrated a relationship between GI symptoms and self-injurious behavior in children and adolescents with DS. This research illustrated the importance of investigating comorbid conditions in individuals with DS. What this paper adds?Down Syndrome (DS) is a genetic condition characterized by trisomy 21 and is a leading cause of intellectual disability worldwide. The prevalence of DS is commonly associated with advanced maternal age and is associated with multiple comorbid conditions. The current study aimed to investigate the frequency of and relationship between sleep problems, gastrointestinal symptoms, comorbid psychopathology, and challenging behavior in children and adolescents with DS. High-frequency levels were found for sleep problems (100 %), challenging behavior (100 %), gastrointestinal symptoms (74.8 %), and moderate to severe levels of the different comorbid psychopathologies (tantrum=80 %; repetitive behavior=63 %; avoidant behavior=82 %; worry/depressed=61 %; conduct behavior=100 %; over-eating=100 %; under-eating=100 %). Results indicated a significant difference in self-injurious behavior frequency between individuals who presented with abdominal pain and those who did not. This study is the first to investigate the relationship of multiple comorbid conditions in a sample of children with DS. This paper adds to the literature by demonstrating the frequency of a number of comorbid conditions in children and adolescents with DS. The paper also adds novel findings to the literature by investigating the relationships between comorbid conditions in this population. The findings of this paper highlighted the frequency and comorbidities that exist between gastrointestinal symptoms, sleep problems, comorbid psychopathology, and challenging behavior. Analyses indicated that those who presented with abdominal pain, engaged in self-injurious behavior more frequently.Sleep problems, gastrointestinal symptoms, comorbid psychopathology, and challenging behavior in children and adolescents with Down Syndrome.

P-355 Effect of biphasic CAPA-IVM on ovarian tissue oocytes of transgender men

Abstract Study question Can CAPA-IVM (Biphasic in-vitro maturation) with C-type natriuretic peptide (CNP), followed by in vitro maturation (IVM) improve ovarian tissue oocyte (OTO) maturation in transgender patients? Summary answer CAPA-IVM did not show any significant difference in maturation competence and frequency of chromosomal aberrations when compared with standard and in-house IVM. What is known already OTO-IVM is a method of fertility preservation in patients where prior ovarian stimulation is undesired. It has resulted in live births in cancer and polycystic ovarian syndrome (PCOS) patients. CAPA-IVM has further improved oocyte competency in these patients by synchronizing nuclear and cytoplasmic maturity. Similarly, OTO can be collected from transgender men without ovarian stimulation during gender reassignment surgery. While oocytes do survive and mature, OTO-IVM in transgender men is characterized by decreased fertilization rate and severely compromised developmental competency. We investigated whether CAPA-IVM can improve cytoplasmic immaturity for transgender OTO. Study design, size, duration Patients were recruited from July 2022 to July 2023. Both ovaries were collected from 9 transgender patients (age= 20-24 years, mean age=22 years) who underwent gender reassignment surgery after testosterone treatment (mean length= 34 months). All ovaries were collected in cold medium (4oC) and manipulation was performed within 30 minutes of the collection for the retrieval of cumulus oocyte complexes (COCs). Participants/materials, setting, methods Collected COCs were cultured either in in-house IVM and Standard (Medicult) IVM medium for 48 hours or in biphasic CAPA-IVM for 54 hours (24 hours pre-maturation culture and 30 hours IVM). Following maturation, oocytes were analyzed for calcium (Ca2+)-releasing potential and developmental competency after ICSI. In vitro matured MI (metaphase I) oocytes from stimulated IVF patients served as controls. Genetic analysis was performed on subsequent embryos to detect chromosomal abnormalities in all groups. Main results and the role of chance After culturing 330 COCs, the survival rate following maturation was similar in the in-house IVM (79%) compared to Medicult (72%, p = 0.221) and CAPA-IVM (73%, p = 0.251). A similar maturation rate (i.e. 55-57%) was observed in the different groups. Following ICSI, 15/25 (60%) CAPA-IVM, 13/19 (68.5%) Medicult IVM, and 17/28 (61%) in-house IVM oocytes were normally fertilized, which was lower than controls (24/29, 83%). Blastocyst rate was inferior in all OTO groups and significantly lower (p = 0.031) in Medicult-IVM (0/13) compared to controls (7/24). Ca2+-releasing potential of oocytes was determined as a product of amplitude and frequency, in arbitrary units (AU). The average values for CAPA-IVM (1.74AU), Medicult IVM (1.24AU), and in-house IVM (1.54AU) were significantly lower (p = 0.022, p = 0.008 and p = 0.017 respectively) compared to controls (4.76AU). Shallow whole genome sequencing of developed embryos (Day 2- Day 5) showed that 8/13 (61.5%) in CAPA-IVM, 4/8 (50%) in In-house IVM, 1/6 (17%) in Medicult, and 4/12 (33%) in the Control group were chromosomally normal. Limitations, reasons for caution The limited inclusion of patients warrants caution in the interpretation of the results. Moreover, the lack of a better control group might mask the properties of OTO-IVM. Wider implications of the findings Our preliminary results do not demonstrate an improvement in oocyte maturation and embryo development with the implementation of CAPA-IVM. However, future proteomics and transcriptomic studies would shed more light on the advantages of the current IVM systems and decipher the true potential of OTO-IVM from transgender men. Trial registration number not applicable

Polymorphism of angiogenesis regulation factor genes (VEGF/VEGFR), and extracellular matrix remodeling genes (MMP/TIMP), and the levels of their products in extracellular tissues of patients with primary and secondary lymphedema.

Cells of various organs and systems perform their functions and intercellular interactions not in an inert environment, but in the microenvironment of tissue fluids. Violations of the normal drainage of tissue fluids accompany lymphedema. An important mechanism of angiogenesis and vasculogenesis regulation in tissue fluids is the production and reception of vascular endothelial growth factors in combination with the regulation of matrix metalloproteinases. The aim of the work was to perform: a comparative analysis of some polymorphisms of vascular endothelial growth factor and their receptors and the genes encoding matrix metalloproteinases in two forms of lymphedema; an analysis of the relationship of these genes' polymorphisms with the levels of vascular endothelial growth factor and matrix metalloproteinases and their inhibitors in serum and affected tissues. Polymorphism of VEGF (rs699947, rs3025039), KDR (rs10020464, rs11133360), NRP2 (rs849530, rs849563, rs16837641), matrix metalloproteinases MMP2 (rs2438650), MMP3 (rs3025058), MMP9 (rs3918242), Timp1 (rs6609533) and their combinations were analyzed by the Restriction Fragment Length Polymorphism method and TaqMan RT-PCR. The serum and tissue fluid levels were determined using the ELISA test system. Changes in the frequency distribution of MMP2 genotypes in primary and MMP3 in secondary lymphedema are shown. Significant frequency differences in NRP2 genotypes were revealed by comparing primary and secondary lymphedema. Features of the distribution of complex genotypes in primary and secondary lymphedema were revealed. The correlation analysis revealed the interdependence of the concentrations of the MMP, TIMP and VEGF products and differences in the structure of the correlation matrices of patients with both forms of lymphedema. It was shown that, in primary lymphedema, genotypes associated with low MMP2 and TIMP2 in serum and tissue fluid are detected, while in secondary lymphedema, other associations of the production levels with combined genetic traits are observed.

Evaluation of Different Materials used in Prosthetic of Dental Implants: A Comparitive Study

ABSTRACT Background: Implant-supported prostheses have become a cornerstone of restorative dentistry, offering patients an effective solution for missing teeth. However, the choice of material for these prostheses can significantly impact their maintenance requirements and long-term success. Methods: Patient records of individuals who received implant-supported prostheses over a 2-year period were reviewed. Data on maintenance interventions, including adjustments, repairs, and replacements were collected and analyzed for metal alloys, ceramics, and composites. Results: Metal alloys exhibited slightly higher average numbers of adjustments compared to ceramics and composites. Ceramics required a higher mean number of repairs and replacements compared to other materials. Statistical analysis revealed significant differences in adjustment frequency between metal alloys and ceramics (P = 0.047), but no significant differences were observed for repairs or replacements. Conclusion: The outcomes imply that material choice plays a significant role in the maintenance requirements of implant dental prostheses. While metal alloys may require more frequent adjustments, ceramics and composites may necessitate more repairs and replacements over time. Clinicians should consider these factors when selecting materials for implant prostheses and develop tailored maintenance protocols to optimize treatment outcomes.

The diabetic sausage toe: Prevalence, presentation and outcomes.

Osteomyelitis (OM) in diabetic foot infection could have many presentations such as an infected ulcer spreading to the bone or superimposed to Charcot neuroarthropathy. However, the sausage toe as a diabetic OM presentation was very rarely investigated; therefore, this study aims to assess the prevalence and signs of this presentation along with treatment modalities and outcomes. This is a retrospective series of patients presenting a sausage toe on admission. Several methods were conducted to diagnose OM, and three treatment modalities were applied. Two groups were compared: acute and chronic sausage toes. Outcomes were defined as sausage toe prevalence, ulcer location, OM prevalence, and comparative treatment results. Out of 82 diabetic toe infection cases, 24 (30%) presented as 'sausage toe'. The side of the proximal interphalangeal joint of the lateral toes was the most frequent ulcer location (50%), mostly on the dorsal aspect followed by the side aspect. There were 15 (62.5%) acute cases and 9 (37.5%) chronic cases. MRI showed signs of OM in 21 (87.5%) cases and signs of septic arthritis in 3 (12.5%) cases. At the final follow-up, a successful treatment was recorded in five (20%) cases with antibiotics alone. Out of the 19 (42%) procedures, conservative surgery was performed successfully in 8 (58%) cases while amputation was needed in 11 (45.8%) cases. There was no significant difference in amputation frequency between acute and chronic groups. This is the first study documenting the sausage toe as a prevalent presentation of diabetic toe infection. The deformity is conclusive of deep infection with a very high osteomyelitis frequency. Surgery is often required for infection control and healing, mainly for chronic cases, and treatment outcomes did not differ between acute and chronic sausage toe groups. It could be beneficial to include this entity in the diabetic wound classification systems.

Effects of Adult Men’s Lifestyle on Scalp Health

Purpose: This study aims to investigate the association of dietary habits and general characteristics of adult Korean men with scalp conditions.Methods: Statistical Package for the Social Sciences version 25.0 was used for data analysis, with a &lt;i&gt;p&lt;/i&gt;-value of 0.05 indicating significance. Frequency analysis was conducted to investigate participants’ general characteristics. Exploratory factor analysis was conducted to validate the measurement tool and Cronbach’s α coefficient verified reliability. Cross-tabulation was used to explore dietary habits and differences by general characteristics. Independent sample &lt;i&gt;t&lt;/i&gt;-test and one-way analysis of variance were utilized to investigate scalp condition following general characteristics and dietary habits, with the Scheffe test used for post-hoc analysis.Results: Statistically significant differences were observed in dietary habits (&lt;i&gt;p&lt;/i&gt;&lt;0.05), with the low-intake group demonstrating relatively higher scalp conditions than the high-intake group (M=2.27 vs. M=2.10). Analysis by general characteristics revealed significant differences in age, marital status, occupation, stress, sleep, exercise, shampoo type, and frequency (&lt;i&gt;p&lt;/i&gt;&lt;0.05).Conclusion: Individuals with healthier dietary habits exhibited better scalp conditions. Poorer scalp conditions were associated with older age, higher stress levels, shorter sleep duration, and poor exercise habits. Balanced dietary habits, effective stress management, improved sleep quality, and regular exercise are required for maintaining a healthy scalp. Further investigation on systematic management is warranted.

GENETIC POLYMORPHISMS IN RAD51, RAD52 AND RAD54 GENES OF HOMOLOGOUS RECOMBINATION REPAIR PATHWAY IN BREAST CANCER: A CASE-CONTROL STUDY FROM PUNJAB

A case-control study was conducted on 600 subjects (300 cases and 300 controls) to understand the association of genetic polymorphisms of RAD51 (rs1801320, rs1801321, rs121917739, rs2619681), RAD52 (rs4987207, rs4987208) and RAD54 (rs2295466) genes in breast cancer patients and controls in population of Punjab. Genotyping of the selected SNPs of RAD51 and RAD52 gene was done by PCR-RFLP, whereas ARMS-PCR was used for RAD54 gene polymorphism. Our study identified significant associations between specific SNPs in the RAD51 and RAD52 genes and breast cancer risk. Notably, three RAD51 SNPs (rs1801320, rs1801321, and rs121917739) and one RAD52 SNP (rs4987208) showed significant genotype frequency differences between cases and controls. Genetic model analysis revealed that minor alleles of four RAD51 SNPs (rs1801320, rs1801321, rs121917739, and rs2619681) and two RAD52 SNPs (rs4987207 and rs4987208) were linked to increased breast cancer risk. Haplotype analysis further supported these findings, with 10 RAD51 haplotypes and two RAD52 haplotypes (G-G and T-G) significantly associated with higher breast cancer risk. Additionally, the GT + TT genotype of RAD52 rs4987207 was associated with lower odds of metastasis, while the TG + GG genotype of rs4987208 was linked to lymph node involvement and higher tumor grade.

Vitamin D receptor polymorphisms and associated miRNAs in the development of breast cancer in African American women

Breast cancer (BCa) is a prevalent form of cancer in women, exhibiting varying rates and distribution across different ethnic groups. Among these groups, African American (AA) women have the highest incidence of BCa and the lowest levels of Vitamin D (VD). Numerous studies have explored the connection between variations in the VDR gene and BCa risk, particularly in different populations, but research on the AA population remains limited. Epigenetic modifications, including specific microRNAs (miRNAs), can influence gene expression without altering the genetic code and have been implicated in cancer initiation and progression. Our hypothesis suggests that VDR gene variations may increase BCa risk in AA women and that changes in miRNA expression profiles could contribute to BCa development. Using data from the 1000 Genome Project, we identified five VDR gene variants with significant frequency differences between AA and European-American (EA) populations. We genotyped 404 African American BCa cases and controls for five variants using TaqMan® assays. SNPstats assessed their association with BCa risk. The rs1544410 variant’s recessive model (A/A) showed a decreased BCa risk in AA (odds ratio 0.33, 95% CI: 0.15–0.73, p-value 0.0041). Conversely, the rs2853563 variant’s recessive model (A/A) was linked to an increased BCa risk (odds ratio 4.04, 95% CI: 1.49–10.95, p-value 0.0022). We investigated miRNA expression influenced by VD in HCC1806 Triple-Negative Breast Cancer (TNBC) cell lines with the A/A allele for rs2853563. nCounter® Nanostring technology assessed miRNA profiles after calcitriol treatment. Our results indicated that calcitriol treatment led to reduced expression of six miRNAs, four of which are associated with tumor suppression in the presence of the AA genotype in TNBC cell lines. These findings suggest that specific VDR genotypes could have a potential effect on the miRNAs expression which could potentially serve as markers for cell proliferation in TNBC.

Large-Scale Molecular Epidemiological Survey of Blastocystis sp. among Herbivores in Egypt and Assessment of Potential Zoonotic Risk.

Given the proven zoonotic potential of the intestinal protozoan Blastocystis sp., a fast-growing number of surveys are being conducted to identify potential animal reservoirs for transmission of the parasite. Nevertheless, few epidemiological studies have been conducted on farmed animals in Egypt. Therefore, a total of 1089 fecal samples were collected from herbivores (sheep, goats, camels, horses, and rabbits) in six Egyptian governorates (Dakahlia, Gharbia, Kafr El Sheikh, Giza, Aswan, and Sharqia). Samples were screened for the presence of Blastocystis sp. by real-time PCR followed by sequencing of positive PCR products and phylogenetic analysis for subtyping of the isolates. Overall, Blastocystis sp. was identified in 37.6% of the samples, with significant differences in frequency between animal groups (sheep, 65.5%; camels, 62.2%; goats, 36.0%; rabbits, 10.1%; horses, 3.3%). Mixed infections were reported in 35.7% of the Blastocystis sp.-positive samples. A wide range of subtypes (STs) with varying frequency were identified from single infections in ruminants including sheep (ST1-ST3, ST5, ST10, ST14, ST21, ST24, ST26, and ST40), goats (ST1, ST3, ST5, ST10, ST26, ST40, ST43, and ST44), and camels (ST3, ST10, ST21, ST24-ST26, ST30, and ST44). Most of them overlapped across these animal groups, highlighting their adaptation to ruminant hosts. In other herbivores, only three and two STs were evidenced in rabbits (ST1-ST3) and horses (ST3 and ST44), respectively. The greater occurrence and wider genetic diversity of parasite isolates among ruminants, in contrast to other herbivores, strongly suggested that dietary habits likely played a significant role in influencing both the colonization rates of Blastocystis sp. and ST preference. Of all the isolates subtyped herein, 66.3% were reported as potentially zoonotic, emphasizing the significant role these animal groups may play in transmitting the parasite to humans. These findings also expand our knowledge on the prevalence, genetic diversity, host specificity, and zoonotic potential of Blastocystis sp. in herbivores.

Pulse wave signal-driven machine learning for identifying left ventricular enlargement in heart failure patients

BackgroundLeft ventricular enlargement (LVE) is a common manifestation of cardiac remodeling that is closely associated with cardiac dysfunction, heart failure (HF), and arrhythmias. This study aimed to propose a machine learning (ML)-based strategy to identify LVE in HF patients by means of pulse wave signals.MethodWe constructed two high-quality pulse wave datasets comprising a non-LVE group and an LVE group based on the 264 HF patients. Fourier series calculations were employed to determine if significant frequency differences existed between the two datasets, thereby ensuring their validity. Then, the ML-based identification was undertaken by means of classification and regression models: a weighted random forest model was employed for binary classification of the datasets, and a densely connected convolutional network was utilized to directly estimate the left ventricular diastolic diameter index (LVDdI) through regression. Finally, the accuracy of the two models was validated by comparing their results with clinical measurements, using accuracy and the area under the receiver operating characteristic curve (AUC-ROC) to assess their capability for identifying LVE patients.ResultsThe classification model exhibited superior performance with an accuracy of 0.91 and an AUC-ROC of 0.93. The regression model achieved an accuracy of 0.88 and an AUC-ROC of 0.89, indicating that both models can quickly and accurately identify LVE in HF patients.ConclusionThe proposed ML methods are verified to achieve effective classification and regression with good performance for identifying LVE in HF patients based on pulse wave signals. This study thus demonstrates the feasibility and potential of the ML-based strategy for clinical practice while offering an effective and robust tool for diagnosing and intervening ventricular remodeling.

Liquid-based cytology specimens for next-generation sequencing in lung adenocarcinoma: challenges and evaluation of targeted therapy

BackgroundTo explore challenges of liquid-based cytology (LBC) specimens for next-generation sequencing (NGS) in lung adenocarcinoma and evaluate the efficacy of targeted therapy.MethodsA retrospective analysis was conducted on the NGS test of 357 cases of advanced lung adenocarcinoma LBC specimens and compared with results of histological specimens to assess the consistency. The impact of tumor cellularity on NGS test results was evaluated. The utility of epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs) was collected. Clinical efficacy evaluation was performed and survival curve analysis was conducted using the Kaplan-Meier method.ResultsThere were 275 TKI-naive and 82 TKI-treated specimens, the mutation rates of cancer-related genes detected in both groups were similar (86.2% vs. 86.6%). The EGFR mutation rate in the TKI treated group was higher than that in the TKI-naive group (69.5% > 54.9%, P = 0.019). There was no significant difference in the EGFR mutation frequency among different tumor cellularity in the TKI-naive group. However, in the TKI treated group, the frequency of EGFR sensitizing mutation and T790M resistance mutation in specimens with < 20% tumor cellularity was significantly lower than that in specimens with ≥ 20% tumor cellularity. Among 22 cases with matched histological specimens, 72.7% (16/22) of LBC specimens were completely consistent with results of histological specimens. Among 92 patients with EGFR-mutant lung adenocarcinoma treated with EGFR-TKIs in the two cohorts, 88 cases experienced progression, and the median progression-free survival (PFS) was 12.1 months.ConclusionsCytological specimens are important sources for gene detection of advanced lung adenocarcinoma. When using LBC specimens for molecular testing, it is recommended to fully evaluate the tumor cellularity of the specimens.

GCT-14. TREATMENT APPROACH FOR METASTATIC INTRACRANIAL GERMINOMA: A MULTI-INSTITUTIONAL EXPERIENCE

Abstract BACKGROUND Germinoma is the most common CNS germ cell tumor in children. Treatment with 24Gy craniospinal irradiation (CSI) with boost to 40Gy alone results in excellent survival irrespective of disease stage. For localized germinoma, recent studies have demonstrated the efficacy of neoadjuvant chemotherapy in decreasing the field/dose of radiation therapy (RT) needed for cure. For metastatic germinoma however, the optimal RT approach when combined with chemotherapy is unclear. Herein, we present our experience in treating patients with metastatic germinoma. METHODS We performed a retrospective, IRB-approved study of patients with metastatic germinoma diagnosed between 2001-2023 at Boston Children’s Hospital, Dana-Farber Cancer Institute, Brigham and Women’s Hospital, and Mass General Hospital. Clinical features, treatment plan, and outcomes were collected and analyzed using the Kaplan-Meier method and Fisher’s exact test. RESULTS Twenty-eight patients with metastatic germinoma were identified. Median age at diagnosis was 15.9 years (range:6.2-25.9). Metastasis was intracranial in 20, craniospinal in three and CSF-only in five patients. Six patients received CSI only. Twenty-two patients received neoadjuvant chemotherapy and CSI. Median number of chemotherapy cycles was 4 (range:3-6). Seventeen patients had complete response, four patients had partial response, and one patient had progressive disease with chemotherapy. All patients went on to receive CSI, with median dose of 21Gy (range:18-36Gy) with median IF boost to 36Gy (range:30-51.6Gy). Median duration of follow-up was 11 years (range:0.3-25.3). There were no recurrences or deaths within the cohort. Analysis of long-term outcomes data revealed no significant differences in frequency of endocrinopathies, CNS vasculopathies, or memory loss between the doses of RT. CONCLUSIONS Our data show that neoadjuvant chemotherapy followed by CSI is associated with excellent overall survival in patients with metastatic germinoma. Importantly, our experience suggests that in combination with neoadjuvant chemotherapy, 21Gy CSI may be sufficient as a curative dose in this patient population.