Categories
Nevin Manimala Statistics

Rearrangement of KMT2A Characterizes a Subset of Pediatric Parotid Mucoepidermoid Carcinomas Arising Metachronous to Acute Lymphoblastic Leukemia

Fetal Pediatr Pathol. 2023 Jul 30:1-12. doi: 10.1080/15513815.2023.2241903. Online ahead of print.

ABSTRACT

Introduction: Metachronous mucoepidermoid carcinomas (MMEC) may occur in association with childhood leukemias and lymphomas. We compared molecular abnormalities of MMEC in patients with ALL with the abnormalities found in primary mucoepidermoid carcinomas (MECs) in pediatric cases and young adults. Materials and methods: Immunohistochemical stains for p63 and SOX10, molecular alterations in MAML2 and KMT2A genes detected by FISH and/or next-generation sequencing were studied in 12 pediatric MMECs secondary to ALL and six primary MECs in pediatric patients and young adults. Follow-up information of patients in both groups was obtained. Results: KMT2A rearrangements were detected in pediatric MMECs, and they were associated with remarkable histomorphological changes, including deposits of abundant stromal collagen and intratumoral lymphoid proliferations. No KMT2A rearrangements were found in primary MECs. The prognosis of MMEC in patients with ALL, especially in KMT2A-rearranged cases, was worse than in primary MECs. Kruskal-Wallis test showed a statistically significant difference in overall survival between KMT2A-rearranged MMECs and KMT2A-intact MMECs in cases with ALL (p = 0.027). Conclusion: KMT2A-rearranged MMECs in ALL patients may have inherently more aggressive behavior, even when the histomorphology of MMEC suggests a low-grade malignancy.

PMID:37517063 | DOI:10.1080/15513815.2023.2241903

Categories
Nevin Manimala Statistics

Comparative study of the efficacy and safety of topical minoxidil 2% versus topical bimatoprost 0.01% versus topical bimatoprost 0.03% in treatment of eyebrow hypotrichosis: a randomized controlled trial

Arch Dermatol Res. 2023 Jul 30. doi: 10.1007/s00403-023-02679-2. Online ahead of print.

ABSTRACT

Eyebrows are an important feature of facial identity and communications in human beings as well as an important eye defense shield from dust and foreign bodies. To compare the efficacy and safety between 0.01%, 0.03% bimatoprost and minoxidil 2% in gel formulations for eyebrow enhancement. Sixty eligible subjects were female or male, aged 18 years or older with eyebrow hypotrichosis, defined as either a Grade 1 or 2 on the Global Eyebrow Assessment (GEBA) scale. Patients were randomized into 3 groups using block randomization. Group a (20 patients) applied topical 0.03% bimatoprost gel once daily onto both eyebrows, group b (20 patients) applied topical 0.01% bimatoprost gel once daily onto both eyebrows while group c (20 patients) applied topical minoxidil 2% gel once daily onto both eyebrows. A significant improvement in GEBA score was reported in all the three groups after treatment (P ≤ 0.001); however, there was no statistically significant difference between the three groups (P1 = 0.091; P2 = 0.102; P3 = 0.663). Bimatoprost is equally efficacious as minoxidil in enhancement of eyebrows with a more favorable response produced by the 0.03% concentration.

PMID:37517060 | DOI:10.1007/s00403-023-02679-2

Categories
Nevin Manimala Statistics

An algebraic model for inversion and deletion in bacterial genome rearrangement

J Math Biol. 2023 Jul 30;87(2):34. doi: 10.1007/s00285-023-01965-x.

ABSTRACT

Inversions, also sometimes called reversals, are a major contributor to variation among bacterial genomes, with studies suggesting that those involving small numbers of regions are more likely than larger inversions. Deletions may arise in bacterial genomes through the same biological mechanism as inversions, and hence a model that incorporates both is desirable. However, while inversion distances between genomes have been well studied, there has yet to be a model which accounts for the combination of both deletions and inversions. To account for both of these operations, we introduce an algebraic model that utilises partial permutations. This leads to an algorithm for calculating the minimum distance to the most recent common ancestor of two bacterial genomes evolving by inversions (of adjacent regions) and deletions. The algebraic model makes the existing short inversion models more complete and realistic by including deletions, and also introduces new algebraic tools into evolutionary distance problems.

PMID:37517046 | DOI:10.1007/s00285-023-01965-x

Categories
Nevin Manimala Statistics

Application of Familial Y-STR Haplotype Mismatch Tolerance in Genealogy Inference

Fa Yi Xue Za Zhi. 2023 Jun 25;39(3):296-304. doi: 10.12116/j.issn.1004-5619.2022.520602.

ABSTRACT

OBJECTIVES: To provide a guideline for genealogy inference and family lineage investigation through a study of the mismatch tolerance distribution of Y-STR loci in Chinese Han male lineage.

METHODS: Three Han lineages with clear genetic relationships were selected. YFiler Platinum PCR amplification Kit was used to obtain the typing data of 35 Y-STR loci in male samples. The variation of Y-STR haplotypes in generation inheritance and the mismatch tolerance at 1-7 kinship levels were statistically analyzed.

RESULTS: Mutations in Y-STR were family-specific with different mutation loci and numbers of mutation in different lineages. Among all the mutations, 66.03% were observed on rapidly and fast mutating loci. At 1-7 kinship levels, the number of mismatch tolerance ranged from 0 to 5 on all 35 Y-STR loci, with a maximum step size of 6. On medium and slow mutant loci, the number of mismatch tolerance ranged from 0 to 2, with a maximum step size of 3; on rapidly and fast mutant loci, the number of mismatch tolerance ranged from 0 to 3, with a maximum step size of 6.

CONCLUSIONS: Combined use of SNP genealogy inference and Y-STR lineage investigation, both 0 and multiple mismatch tolerance need to be considered. Family lineage with 0-3 mismatch tolerance on all 35 Y-STR loci and 0-1 mismatch tolerance on medium and slow loci can be prioritized for screening. When the number of mismatch tolerance is eligible, family lineages with long steps should be carefully excluded. Meanwhile, adding fast mutant loci should also be handled with caution.

PMID:37517019 | DOI:10.12116/j.issn.1004-5619.2022.520602

Categories
Nevin Manimala Statistics

Does lucency equate to revision? A five-year retrospective review of Attune and Triathlon total knee arthroplasty

Knee Surg Sports Traumatol Arthrosc. 2023 Jul 30. doi: 10.1007/s00167-023-07509-6. Online ahead of print.

ABSTRACT

PURPOSE: The Attune® total knee arthroplasty system was introduced in 2013 to address lingering issues of patient dissatisfaction. However, recent literature reports concerns of early tibial tray debonding. The aim of this study was to compare the incidence of radiolucent lines, survivorship and patient reported outcome-measures between the Attune® system and the well-established Triathlon® system.

METHODS: This retrospective database review was conducted at a single institution in Cork, Ireland. All primary Attune® (N = 445) and Triathlon® (N = 285) systems implanted between 2015 and 2016 were reviewed. Radiolucent lines were assessed for those with a minimum two-year radiological follow-up (Attune® = 338; Triathlon® = 231). X-rays were taken post op, at 6 months, 2 years and 5 years. Radiolucent lines were documented using the Modern Knee Society Radiographic System. Five-year survival was assessed using Kaplan-Meier analysis with the Log Rank method to determine statistical significance. The Oxford Knee Score and EQ-5D-5L, were collected pre-op, at 6 months, 2 years and 5 years post-operatively and compared using the Kruskal-Wallis Test.

RESULTS: The Attune® had a higher proportion of radiolucent lines at the tibial tray [87.1% (54/62) vs 61.4% (27/44); p = 0.001] and at the implant-cement interface [62.9% (39/62) vs 43.2% (19/44); p = 0.02]. Conversely, the Triathlon® had a higher proportion AT the femur [38.6% (17/44) vs 12.9% (8/62); p = 0.001] and at the cement-bone interface [56.8% (25/44) vs 37.1% (23/62); p = 0.02]. The overall frequency of radiolucent lines was similar in both the Attune® and Triathlon® groups [17.8%, (60/338) vs 17.7%, (41/231); p = 0.49]. There was no difference in revision-free survival analysis at 5 years (Attune® 97.8% vs Triathlon® 95.8%; p = 0.129). The Attune® performed better at 5 years in the Oxford Knee Score [Attune® = 42.6 (SD 5.2) vs Triathlon® = 41 (SD 6.4); p = 0.001] and in the EQ-5D [Attune® = 0.773 (SD 0.187) vs Triathlon® = 0.729 (SD 0.218); p = 0.013]. There was no difference at 5 years in the EQ-VAS [Attune® = 80.4 (SD 13.7) vs Triathlon® = 78.5 (SD 15.3); p = 0.25].

CONCLUSION: The Attune® system exhibited a higher incidence of radiolucent lines at the tibial tray. However, this did not lead to decreased survivorship at medium term follow-up compared to the Triathlon®. Furthermore, improvements in patient reported outcomes modestly favoured the Attune® system.

LEVEL OF EVIDENCE: III.

PMID:37516985 | DOI:10.1007/s00167-023-07509-6

Categories
Nevin Manimala Statistics

Expression profiling of luminal B breast tumor in Indian women

J Cancer Res Clin Oncol. 2023 Jul 30. doi: 10.1007/s00432-023-05195-y. Online ahead of print.

ABSTRACT

PURPOSE: In this study, we aimed at profiling of luminal B breast cancer specific gene expression pattern in Indian women using mRNA-seq and validation based on TCGA expression data.

METHODS: RNA isolated from luminal B tumor and adjacent normal tissues was used for library construction and sequencing. Reference-based assemblies of these reads were used for differential gene expression analysis using DeSeq2. The DEGs were evaluated using TCGA expression data. Kaplan-Meier survival method was used to evaluate association between genes showing luminal B specific differential expression pattern and breast cancer prognosis and statistical significance was assessed using log-rank test. Alternate splicing analysis was done using rmats.

RESULTS: Differential expression analysis identified 2371 differentially expressed genes (DEGs) in luminal B breast tumors in comparison with adjacent normal tissues of Indian Women. Of them, 1692 DEGs were validated using TCGA luminal B paired samples. Integration of this data with the DEGs obtained by comparative analysis of unpaired luminal B with luminal A unpaired samples from TCGA resulted in 291 DEGs showing luminal B specific expression pattern. Further, 26 genes of prognostic value were identified. Differential splicing analysis between luminal B tumors and adjacent normal tissues in our cohort led to the identification of 687 genes showing significant differential alternate splicing events.

CONCLUSION: This study profiled gene expression pattern of luminal B tumors of Indian women and identified 26 key genes of prognostic value for luminal B breast cancer. This study also profiled differential alternate splicing and identified important alternate splicing events in luminal B breast cancer.

PMID:37516983 | DOI:10.1007/s00432-023-05195-y

Categories
Nevin Manimala Statistics

Predicting ankle and knee sagittal kinematics and kinetics using an ankle-mounted inertial sensor

Comput Methods Biomech Biomed Engin. 2023 Jul 30:1-14. doi: 10.1080/10255842.2023.2224912. Online ahead of print.

ABSTRACT

The purpose of this study was to develop a machine learning model to reconstruct time series kinematic and kinetic profiles of the ankle and knee joint across six different tasks using an ankle-mounted IMU. Four male collegiate basketball players performed repeated tasks, including walking, jogging, running, sidestep cutting, max-height jumping, and stop-jumping, resulting in a total of 102 movements. Ankle and knee flexion-extension angles and moments were estimated using motion capture and inverse dynamics and considered ‘actual data’ for the purpose of model fitting. Synchronous acceleration and angular velocity data were collected from right ankle-mounted IMUs. A time-series feature extraction model was used to determine a set of features used as input to a random forest regression model to predict the ankle and knee kinematics and kinetics. Five-fold cross-validation was performed to verify the model accuracy, and statistical parametric mapping was used to determine the difference between the predicted and experimental time series. The random forest regression model predicted the time-series profiles of the ankle and knee flexion-extension angles and moments with high accuracy (Kinematics: R2 ranged from 0.782 to 0.962, RMSE ranged from 2.19° to 11.58°; Kinetics: R2 ranged from 0.711 to 0.966, RMSE ranged from 0.10 Nm/kg to 0.41 Nm/kg). There were differences between predicted and actual time series for the knee flexion-extension moment during stop-jumping and walking. An appropriately trained feature-based regression model can predict time series knee and ankle joint angles and moments across a wide range of tasks using a single ankle-mounted IMU.

PMID:37516980 | DOI:10.1080/10255842.2023.2224912

Categories
Nevin Manimala Statistics

Determining the Effectiveness of an Adult Food Literacy Program Using a Matched Control Group

J Nutr Educ Behav. 2023 Jul 27:S1499-4046(23)00392-5. doi: 10.1016/j.jneb.2023.06.001. Online ahead of print.

ABSTRACT

OBJECTIVE: To determine the effect of Food Sensations for Adults on food literacy behaviors and selected dietary behaviors.

METHODS: A quasi-experimental design using preprogram and postprogram questionnaires over 4 weeks with a control group (n = 75) matched for sex, age group, and socioeconomic disadvantage to program participants (n = 867). General linear mixed models assessed change in food literacy behavior frequency in 3 self-reported domains (plan and manage, selection, and preparation) and fruit and vegetable servings.

RESULTS: Postprogram, Food Sensations for Adults participants reported modest yet statistically significant score improvements in 2 of the 3 domains of food literacy behaviors in the plan and manage (12.4%) and preparation (9.8%) domains, as well as servings of vegetables (22.6% or 0.5 servings).

CONCLUSION AND IMPLICATIONS: Quasi-experimental designs indicate food literacy programs can produce modest short-term changes across a range of food literacy and dietary behaviors.

PMID:37516955 | DOI:10.1016/j.jneb.2023.06.001

Categories
Nevin Manimala Statistics

Is Hand Therapy Associated With a Delay in Surgical Treatment in Thumb Carpometacarpal Arthritis?

J Hand Surg Am. 2023 Jul 29:S0363-5023(23)00296-4. doi: 10.1016/j.jhsa.2023.05.019. Online ahead of print.

ABSTRACT

PURPOSE: Thumb carpometacarpal (CMC) osteoarthritis (OA) causes functional disability and an increased health care burden in the aging population. The role of therapy in thumb CMC OA has been minimally analyzed in the literature. We hypothesized that patients treated with therapy for thumb CMC OA would demonstrate reduced rates of surgery for this diagnosis.

METHODS: We queried a national insurance dataset for all patients with an International Classification of Diseases, Ninth Revision, or International Statistical Classification of Diseases, Tenth Revision, code for thumb CMC OA, with a minimum of 2 years of follow-up. A 2:1 propensity-matched cohort of patients with CMC OA who did not receive therapy versus a therapy cohort was created, with a minimum of two sessions of hand therapy for inclusion. The primary outcome was the rate of thumb CMC OA surgery occurring within 2 years of diagnosis; time to surgery and use of thumb CMC injections were secondary outcomes. Multivariable logistic regression analysis was used to identify the risk factors for undergoing surgical treatment.

RESULTS: After matching, the therapy cohort comprised 14,548 patients, with a matched group of 28,930 patients who did not undergo therapy. In the overall sample, the rate of surgery within 2 years was 22.5%. Two-year surgical treatment rates were significantly higher for those who did not undergo therapy when compared with those who did (29.3% vs 13.1%). Patients treated with therapy had a significantly longer time to surgery, with no difference in the rate of surgery after one year. In multivariable regression of all included variables, lack of therapy intervention had the highest odds of surgery for thumb CMC OA (odds ratio 4.3).

CONCLUSIONS: We present the findings of a large insurance database evaluating the association of therapy with rates of surgical treatment for thumb CMC arthritis. On average, those treated with therapy had longer times to surgery, and the 2-year surgery rates for patients diagnosed with thumb CMC arthritis were significantly higher in those who did not undergo therapy treatment.

TYPE OF STUDY/LEVEL OF EVIDENCE: Prognostic II.

PMID:37516939 | DOI:10.1016/j.jhsa.2023.05.019

Categories
Nevin Manimala Statistics

Prevalence and Determinants of Female-Perpetrated Intimate Partner Violence against Heterosexual Men Living with HIV in a Semi Rural Community, Northern Nigeria

West Afr J Med. 2023 Jul 28;40(7):761-768.

ABSTRACT

BACKGROUND: Globally, female-perpetrated IPV has been well studied among various groups but little is known about IPV against heterosexual men living with HIV. This study sought to identify the prevalence and determinants of female-perpetrated IPV among heterosexual HIV-positive men in Birnin Kudu, Jigawa State, Nigeria.

MATERIALS AND METHODS: This was a descriptive crosssectional study carried out at one secondary and tertiary health facility respectively, both situated in Birnin Kudu. Using an intervieweradministered pre-tested questionnaire, the prevalence and determinants of female-perpetrated IPV was assessed among 322 heterosexual HIV-positive men attending the anti-retroviral therapy clinics at the two health facilities. Data was entered into and analyzed using statistical package for social sciences version 25.

RESULTS: The prevalence of IPV in the last year was 45% (145D 322). Out of the survivors of IPV, 143 (98.6%), 75 (51.7%), and 51 (35.2%) had experienced psychological aggression, physical assault and sexual coercion respectively. The number of children fathered, experience of childhood violence, and marital status were significantly associated with IPV (p< 0.05) However, they remained significant determinants of IPV after controlling for confounders (ethnicity, marital status, educational status ) {Adjusted Odds ratio (aOR) = 7.34 and 95% confidence interval (C.I.) = 1.49 – 35.4; aOR= 1.84 C.I. 1.33 – 2.80; aOR = O.51 (0.29 – 0.90) respectively}.

CONCLUSION: This study identified a high prevalence of femaleperpetrated IPV against heterosexual men living with HIV and emphasizes that exposure to childhood violence and being childless are determinants of IPV. Efforts should be made to screen for IPV among men living with HIV so as to optimize their health and wellbeing.

PMID:37516936