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1.
Genes (Basel) ; 15(5)2024 04 27.
Article in English | MEDLINE | ID: mdl-38790186

ABSTRACT

Uterine leiomyomas (ULs) are the most common benign tumor of the uterus. They can be associated with symptoms including abnormal uterine bleeding, pelvic pain, urinary frequency, and pregnancy complications. Despite the high prevalence of UL, its underlying pathophysiology mechanisms have historically been poorly understood. Several mechanisms of pathogenesis have been suggested, implicating various genes, growth factors, cytokines, chemokines, and microRNA aberrations. The purpose of this study is to summarize the current research on the relationship of genetics with UL. Specifically, we performed a literature review of published studies to identify how genetic aberrations drive pathophysiology, epidemiology, and therapeutic approaches of UL. With regards to pathophysiology, research has identified MED12 mutations, HMGA2 overexpression, fumarate hydratase deficiency, and cytogenetic abnormalities as contributors to the development of UL. Additionally, epigenetic modifications, such as histone acetylation and DNA methylation, have been identified as contributing to UL tumorigenesis. Specifically, UL stem cells have been found to contain a unique DNA methylation pattern compared to more differentiated UL cells, suggesting that DNA methylation has a role in tumorigenesis. On a population level, genome-wide association studies (GWASs) and epidemiologic analyses have identified 23 genetic loci associated with younger age at menarche and UL growth. Additionally, various GWASs have investigated genetic loci as potential drivers of racial disparities in UL incidence. For example, decreased expression of Cytohesin 4 in African Americans has been associated with increased UL risk. Recent studies have investigated various therapeutic options, including ten-eleven translocation proteins mediating DNA methylation, adenovirus vectors for drug delivery, and "suicide gene therapy" to induce apoptosis. Overall, improved understanding of the genetic and epigenetic drivers of UL on an individual and population level can propel the discovery of novel therapeutic options.


Subject(s)
Leiomyoma , Uterine Neoplasms , Humans , Female , Leiomyoma/genetics , Leiomyoma/pathology , Leiomyoma/epidemiology , Uterine Neoplasms/genetics , Uterine Neoplasms/pathology , Uterine Neoplasms/therapy , Uterine Neoplasms/epidemiology , Epigenesis, Genetic , DNA Methylation/genetics , Genome-Wide Association Study
2.
Reprod Sci ; 31(3): 645-660, 2024 Mar.
Article in English | MEDLINE | ID: mdl-37907804

ABSTRACT

Collagen is an essential constituent of the uterine extracellular matrix that provides biomechanical strength, resilience, structural integrity, and the tensile properties necessary for the normal functioning of the uterus. Cross-linking is a fundamental step in collagen biosynthesis and is critical for its normal biophysical properties. This step occurs enzymatically via lysyl oxidase (LOX) or non-enzymatically with the production of advanced glycation end-products (AGEs). Cross-links found in uterine tissue include the reducible dehydro-dihydroxylysinonorleucine (deH-DHLNL), dehydro-hydroxylysinonorleucine (deH-HLNL), and histidinohydroxymerodesmosine (HHMD); and the non-reducible pyridinoline (PYD), deoxy-pyridinoline (DPD); and a trace of pentosidine (PEN). Collagen cross-links are instrumental for uterine tissue integrity and the continuation of a healthy pregnancy. Decreased cervical cross-link density is observed in preterm birth, whereas increased tissue stiffness caused by increased cross-link density is a pathogenic feature of uterine fibroids. AGEs disrupt embryo development, decidualization, implantation, and trophoblast invasion. Uterine collagen cross-linking regulators include steroid hormones, such as progesterone and estrogen, prostaglandins, proteoglycans, metalloproteinases, lysyl oxidases, nitric oxide, nicotine, and vitamin D. Thus, uterine collagen cross-linking presents an opportunity to design therapeutic targets and warrants further investigation in common uterine disorders, such as uterine fibroids, cervical insufficiency, preterm birth, dystocia, endometriosis, and adenomyosis.


Subject(s)
Leiomyoma , Premature Birth , Infant, Newborn , Pregnancy , Female , Humans , Collagen , Cervix Uteri , Biology
3.
Medicine (Baltimore) ; 101(40): e30915, 2022 Oct 07.
Article in English | MEDLINE | ID: mdl-36221380

ABSTRACT

BACKGROUND: We aimed to compare static and dynamic balance parameters and health quality parameters in ballerina and non-ballerina adolescents with hallux valgus deformity. METHODS: Forty five volunteer female adolescent ballet students between the ages of 7 and 17, with hallux valgus were recruited. Group 1 = in the control group, 31 sedentary adolescents with hallux valgus were included. Group 2 = Romberg test and Flamingo test were used for static balance. The SEBT (Star Excursion Balance Test) was used to measure dynamic balance. RESULTS: Age, sex, and body mass index (BMI) characteristics were similar between ballerina and control groups (P < .05). The Romberg test stands upright with closed eyes, with a significant difference 47.22 in group 1 and 38.13 in group 2. In contrast there was a significant difference between the two groups in the Romberg test single limb with eyes open and closed. For open eyes single limb test mean score was 55.06 in ballerinas and 44.2 in sedentary group, similarly single limb test with closed eyes mean score was 25.68 in group 1 and 18.67 in group 2. CONCLUSION: In conclusion, the results of this study show that ballerinas have better single-limb and closed-eye balance than sedentary individuals with HV deformities.


Subject(s)
Dancing , Hallux Valgus , Hallux , Adolescent , Child , Female , Humans
4.
J Telemed Telecare ; : 1357633X221117335, 2022 Aug 02.
Article in English | MEDLINE | ID: mdl-35916001

ABSTRACT

INTRODUCTION: Many assessment methods are used in physiotherapy to analyze the fitness level and injury risk in athletes, and to determine the general health status and the effectiveness of the treatment applied in patients. Considering the need for telehealth use, it is essential to determine the usability of tests performed as tele-assessment. This study aimed to examine the intra-rater reliability, validity, and feasibility of the tele-assessment version of core strength and endurance and functional capacity assessments in healthy individuals. METHODS: "Curl-up," "Modified Push-up," "Plank," and "Lateral Bridge" tests were used for core strength and endurance performance assessment, and "Timed Up and Go," "30 second Sit to Stand," and "Functional Reach Test" tests were used for functional capacity assessment in healthy individuals. Participants were evaluated first by tele-assessment, then one hour later on the same day, all assessments were repeated face-to-face procedures by the researchers thus the validity of the tele-assessment method was determined. All tests were applied as tele-assessment one week later to determine the intra-rater reliability of the tele-assessment method. The system usability scale was applied to evaluate the usability of our tele-assessment method. RESULTS: Eighty healthy people were enrolled. Intraclass correlation coefficients ranged between 0.91 and 0.97 for core performance tests and between 0.95 and 0.97 for functional tests. All tele-assessment versions of the core performance and functional tests were highly correlated with the face-to-face versions. DISCUSSION: Core strength-endurance and functional tests performed via tele-assessment were reliable, valid, and feasible for practically measuring the performance of healthy young adults. This study supports the tele-assessment versions of these tests. TRIAL REGISTRATION NUMBER AND TRIAL REGISTER: Clinicaltrials.gov: NCT04899804.

5.
Article in English | MEDLINE | ID: mdl-35298412

ABSTRACT

BACKGROUND: It is well-known that hallux valgus (HV) alters foot biomechanics. In different populations, HV and postural stability has been studied, but HV and the adolescent ballet dancer has not been studied. The aims of this study were to explore the effect of HV on adolescent ballet dancers' balance and to assess the health-related quality of life (HRQOL) of adolescent ballet dancers with HV. METHODS: Female ballet dancers aged 8 to 16 years were screened prospectively and divided into two groups: those with HV (group 1) and those without HV (group 2). The HV diagnosis was made clinically. The groups were compared according to balance parameters and HRQOL questionnaires. RESULTS: In group 1 (n = 31) and group 2 (n = 24), the mean age was 11.6 years and 12.2 years, respectively. Mean first metatarsophalangeal angle was 13.4° (range, 10°-15°) in group 2 and 19.8° (range, 16°-25°) in group 1. A statistically significant difference was found according to the nonparametric Mann-Whitney U test results in the comparison of HV angle between groups. According to Spearman rho correlation analysis, it was determined that the increase in HV angle caused deterioration in the flamingo static balance test (r = 0.552; P = .019). No significant relationship was found between HRQOL questionnaires and the presence of HV (P > .05). CONCLUSIONS: Adolescent ballet dancers experience static balance impairment due to HV angle increase. Clinical measurement of HV and application of balance parameters made easy without need of set ups to perform evaluation with high numbers of participants in concordance with the literature.


Subject(s)
Dancing , Hallux Valgus , Adolescent , Child , Female , Foot , Humans , Lower Extremity , Quality of Life
6.
J Orthop Case Rep ; 11(7): 70-73, 2021 Jul.
Article in English | MEDLINE | ID: mdl-34790608

ABSTRACT

INTRODUCTION: Ulnar volar dislocation (UVD) is a very rare entity. Due to rarity of condition, usually, it's misdiagnosed at emergency departments and management of this clinical entity is not well studied. Here, we report a case of UVD impressing diagnostic challenge, indication of treatment, and follow-up. CASE REPORT: A 29-year-old man presented to orthopedic outpatient service with complaining of the right wrist pain. He had an assault history 3 days before. In the emergency department, he had been diagnosed as wrist sprain. Splint and pain killers were prescribed. Due to increase of pain, he admitted to orthopedics. He was diagnosed UVD. Under general anesthesia, joint was reduced with forced pronation maneuver. After 3 weeks immobilization period, magnetic resonance images revealed partial injury of triangular fibrocartilage complex then splint removed and rehabilitation initiated. Over than 24 months, he is doing well without movement limitation and wrist strength impairment. CONCLUSION: For prevention misdiagnosis of UVD, physical examination is very important. Forearm rotation limitation with pain in the wrist should be indicative for distal radioulnar joint injury. Physical examination should be supported with proper evaluation of suitable radiographs. After reduction of joint, magnetic resonance images give clues about ligamentous injury. Our case supports the importance of rigorous physical examination and evaluation of radiographs for wrist injury. In the presence of partial injury of ligaments, the condition can be treated with shorter periods of immobilization and early rehabilitation.

7.
Angle Orthod ; 89(5): 742-750, 2019 09.
Article in English | MEDLINE | ID: mdl-30855180

ABSTRACT

OBJECTIVES: To determine the best bonding method of orthodontic attachment among monolithic zirconia, feldspathic porcelain, hybrid porcelain, and the impact of surface-conditioning methods using a three-dimensional optical profilometer after debonding. MATERIALS AND METHODS: 56 feldspathic porcelain, 56 monolithic zirconia, and 56 hybrid porcelain samples were divided into four surface treatment subgroups: (1) hydrofluoric (HF) acid etch + silane, (2) Al2O3 sandblasting + silane, (3) silicoating (SiO2), and (4) diamond bur + silane. The specimens were tested to evaluate shear bond strength (SBS). Residual composite was removed after debonding. Three-dimensional white-light interferometry was used to obtain quantitative measurements on surface roughness. RESULTS: The highest SBS value was found for the HF acid-etched feldspathic porcelain group. The average surface roughness values were significantly higher in all material groups in which diamond bur was applied, while roughening with Cojet provided average surface roughness values closer to the original material surface. CONCLUSIONS: Variations in structures of the materials and roughening techniques affected the SBS and surface roughness findings.


Subject(s)
Dental Bonding , Orthodontic Brackets , Dental Porcelain , Materials Testing , Resin Cements , Shear Strength , Silanes , Silicon Dioxide , Surface Properties
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