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1.
Asian J Surg ; 2024 Jul 08.
Artículo en Inglés | MEDLINE | ID: mdl-38981755
2.
3.
Asian J Surg ; 2024 Jul 03.
Artículo en Inglés | MEDLINE | ID: mdl-38964968
4.
Huan Jing Ke Xue ; 45(7): 3765-3777, 2024 Jul 08.
Artículo en Chino | MEDLINE | ID: mdl-39022925

RESUMEN

Atmospheric precipitation samples were collected in 2018, 2019, and 2021 in Beijing to study the concentrations and changes of the main metal elements and water-soluble ions; the wet deposition fluxes of heavy metals, water-soluble ions, dissolved inorganic nitrogen, and sulfur in the atmospheric precipitation and their impacts on the ecological environment; and the scavenging mechanisms of the typical precipitation to atmospheric pollutants during the study period. The results showed that the precipitation in Beijing during the study period was mostly neutral or alkaline, and the frequency of acid rain occurrence was very low, only accounting for 3.06%. The total concentrations of major metal elements in 2018, 2019, and 2021 were (4 787.46 ±4 704.31), (7 663.07 ±8 395.05), and (2 629.13 ±2 369.51) µg·L-1, respectively. The total equivalent concentrations of ions in 2018, 2019, and 2021 were (851.68 ±649.16), (973.98 ±850.94), and (644.31 ±531.16) µeq·L-1, respectively. The interannual changes in major metal elements and ions followed the order of 2019 > 2018 > 2021. The seasonal average total concentrations of major metal elements in spring, summer, autumn, and winter were (9 624.25 ±7 327.92), (4 088.67 ±5 710.14), (3 357.68 ±3 995.64), and (6 203.19 ±3 857.43) µg·L-1, respectively, and the seasonal average total equivalent concentrations of ions in spring, summer, autumn, and winter were (1 014.71 ±512.21), (729.83 ±589.90), (724.35 ±681.40), and (1 014.03 ±359.67) µeq·L-1, respectively, all presenting the order of spring > winter > summer > autumn. NO3- and SO42- were the main acid-causing ions in precipitation, whereas NH4+ and Ca2+ were the main acid-neutralizing ions. The wet deposition fluxes of the heavy metal Cd were very low [(0.05 ±0.01) mg·ï¼ˆm2·a)-1], only accounting for (0.13 ±0.04)% of the total wet deposition fluxes of main metal elements; however, its soil safety years were 291 years, significantly lower than those of other heavy metals, displaying that its ecological risk was relatively the highest. The total wet precipitation flux of water-soluble ions NH4+, Ca2+, NO3-, and SO42- accounted for (85.72 ±2.18)% of the wet precipitation flux of total ions, suggesting that their comprehensive impact on the ecological environment might have been higher. DIN wet deposition flux was mainly characterized by NH4+-N, which had a positive impact on the ecological environment in summer. SO42--S wet deposition flux was higher in summer, so its positive impact on the ecological environment was also greater. The scavenging effects of atmospheric precipitations to pollutants from the air were impacted by various factors, and the synergism effects of these factors could directly influence the scavenging mechanisms of precipitation to pollutants.

5.
Gynecol Oncol ; 188: 27-34, 2024 Jun 19.
Artículo en Inglés | MEDLINE | ID: mdl-38901080

RESUMEN

OBJECTIVE: Given the low incidence of venous thromboembolism (VTE) in endometrial cancer patients undergoing minimally invasive surgery, coupled with the existing uncertainties within guidelines regarding pharmacologic thromboprophylaxis in this area, there is an urgent need for a comprehensive literature review. This review aims to evaluate the necessity of pharmacologic VTE prophylaxis in these patients. METHODS: PubMed, Embase, Cochrane Central Register of Controlled Trials, International Clinical Trials Registry Platform, and ClinicalTrials.gov were systematically searched from inception to March 10, 2024. The analysis was performed using R version 4.2.3. RESULTS: Seven studies involving 3931 endometrial cancer patients were included in the analysis. Meta-analysis results revealed that within 30 days postoperatively, the incidence of VTE was 0.51% (5 out of 990) in the pharmacologic prophylaxis group and 0.70% (7 out of 995) in the mechanical prophylaxis group, with a relative risk (RR) of 1.14 (95% CI 0.19-6.95), indicating no significant difference between the groups. Additionally, within the same timeframe, the incidence of VTE was 0.37% (4 out of 1083) in the extended pharmacologic prophylaxis group and 1.14% (4 out of 352) in the non-extended pharmacologic prophylaxis group, yielding an RR of 0.41 (95% CI 0.11-1.54), again showing no significant difference between the groups. CONCLUSIONS: Our study indicates that routine pharmacological VTE prophylaxis may not be imperative for endometrial cancer patients undergoing minimally invasive surgery, as mechanical prophylaxis alone seems to be efficacious. However, it is crucial to acknowledge that a subset of high-risk patients may derive benefit from pharmacological prophylaxis or even extended regimens. Nonetheless, the absence of a validated risk prediction model for identifying such patients underscores the need for further research in this area. PROTOCOL REGISTRATION: CRD 42024516595.

6.
Int Immunopharmacol ; 137: 112417, 2024 Aug 20.
Artículo en Inglés | MEDLINE | ID: mdl-38897122

RESUMEN

Drug local delivery system that directly supply anti-cancer drugs to the tumor microenvironment (TME) results in excellent tumor control and minimizes side effects associated with the anti-cancer drugs. Immune checkpoint inhibitors (ICIs) have been the mainstay of cancer immunotherapy. However, the systemic administration of ICIs is accompanied by considerable immunotherapy-related toxicity. To explore whether an anti-PD-L1 antibody administered locally via a sustained-release gel-forming carrier retains its effective anticancer function while causing fewer colitis-like side effects, CT, a previously reported depot system, was used to locally deliver an anti-PD-L1 antibody together with curcumin to the TME in bladder cancer-bearing ulcerative colitis model mice. We showed that CT-mediated intratumoral coinjection of an anti-PD-L1 antibody and curcumin enabled sustained release of both the loaded anti-PD-L1 antibody and curcumin, which contributed to substantial anticancer effects with negligible side effects on the colons of the UC model mice. However, although the anti-PD-L1 antibody administered systemically synergized with the CT-mediated intratumoral delivery of curcumin in inhibiting tumour growth, colitis was significantly worsened by intraperitoneal administration of anti-PD-L1 antibody. These findings suggested that CT is a promising agent for the local delivery of anticancer drugs, as it can allow effective anticancer functions to be retained while sharply reducing the adverse side effects associated with the systemic administration of these drugs.


Asunto(s)
Antígeno B7-H1 , Curcumina , Inhibidores de Puntos de Control Inmunológico , Inmunoterapia , Neoplasias de la Vejiga Urinaria , Animales , Neoplasias de la Vejiga Urinaria/tratamiento farmacológico , Neoplasias de la Vejiga Urinaria/inmunología , Neoplasias de la Vejiga Urinaria/terapia , Antígeno B7-H1/antagonistas & inhibidores , Antígeno B7-H1/inmunología , Curcumina/uso terapéutico , Curcumina/administración & dosificación , Ratones , Inmunoterapia/métodos , Inhibidores de Puntos de Control Inmunológico/uso terapéutico , Humanos , Línea Celular Tumoral , Femenino , Colitis/inducido químicamente , Colitis/inmunología , Colitis/tratamiento farmacológico , Microambiente Tumoral/efectos de los fármacos , Microambiente Tumoral/inmunología , Sistemas de Liberación de Medicamentos , Modelos Animales de Enfermedad , Ratones Endogámicos C57BL , Antineoplásicos Inmunológicos/administración & dosificación , Antineoplásicos Inmunológicos/uso terapéutico , Colitis Ulcerosa/inducido químicamente , Colitis Ulcerosa/tratamiento farmacológico , Colitis Ulcerosa/inmunología
7.
Int J Gynecol Cancer ; 34(7): 1070-1076, 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38839080

RESUMEN

OBJECTIVE: The role of splenectomy on cytoreductive surgery in patients with ovarian cancer remains controversial. We conducted this meta-analysis to evaluate the safety and impact of survival outcome of splenectomy in patients with ovarian cancer. METHODS: In this meta-analysis we analyzed studies published in PubMed, Embase, Cochrane Central Register of Controlled Trials (CENTRAL), International Clinical Trials Registry Platform (ICTRP), and Clinical Trials. gov that appeared in our search from inception to November 10, 2023. RESULT: This meta-analysis included 10 studies, totaling 6297 patients, comprising one prospective and nine retrospective analyses. The results indicated no significant disparity in overall survival and mortality (OR 1.14, 95% CI 0.69 to 1.87, p=0.62) between the splenectomy cohort and the no splenectomy (required) cohort. Furthermore, relative to the no splenectomy (required) cohort, the splenectomy group showed a heightened incidence of overall post-operative complications (odds ratio (OR) 1.66, 95% CI 1.65 to 2.61, p=0.03), an extended duration of hospitalization (mean difference (MD) 2.88 days, 95% CI 2.09 to 3.67), an increased interval from surgery to the initiation of adjuvant chemotherapy (MD 4.44 days, 95% CI 2.41 to 6.07, p<0.0001), and a greater probability of undergoing reoperation (OR 4.7, 95% CI 1.91 to 11.55, p=0.0007). However, concerning the occurrence of specific post-operative complications such as anastomotic leakage (OR 0.97, 95% CI 0.33 to 2.84, p=0.95), pancreatic fistula (OR 3.25, 95% CI 0.63 to 16.7, p=0.16), abdominal abscess (OR 1.75, 95% CI 0.25 to 12.33, p=0.57), sepsis (OR 1.46, 95% CI 0.77 to 2.77, p=0.25), and thrombotic events (OR 1.82, 95% CI 0.93 to 3.57, p=0.08), no significant differences were observed between the two cohorts. CONCLUSION: Splenectomy does not impact the overall survival and mortality of patients with ovarian cancer. Thus, it can be considered an acceptably safe procedure to obtain optimal cytoreduction. However, caution should be taken when selecting patients for splenectomy because it is associated with an increased incidence of overall post-operative complications, prolonged hospital stays, delayed initiation of adjuvant chemotherapy, and an increased probability of requiring subsequent surgical interventions.


Asunto(s)
Procedimientos Quirúrgicos de Citorreducción , Neoplasias Ováricas , Esplenectomía , Humanos , Esplenectomía/métodos , Femenino , Neoplasias Ováricas/cirugía , Neoplasias Ováricas/patología , Procedimientos Quirúrgicos de Citorreducción/métodos , Procedimientos Quirúrgicos de Citorreducción/efectos adversos , Complicaciones Posoperatorias/epidemiología
8.
BMC Pregnancy Childbirth ; 24(1): 434, 2024 Jun 18.
Artículo en Inglés | MEDLINE | ID: mdl-38890581

RESUMEN

BACKGROUND: The current study sought to investigate the correlation between vitamin D supplementation in pregnant women with vitamin D deficiency in early pregnancy and the incidence of prenatal depression prior to delivery. METHODS: This is a retrospective, single-center study that was conducted at a tertiary hospital in Chengdu, China. We conducted an analysis on pregnant women who were initially diagnosed with vitamin D deficiency at 12-14 weeks of gestation. After starting vitamin D supplementation at a dose of 800 IU daily from 14 weeks onwards, we measured both their vitamin D concentration and depression scores again during median gestational week 39 prior to delivery. RESULTS: The study cohort comprised 1365 women who had been diagnosed with vitamin D deficiency at 12-14 weeks of gestation between November 1st, 2021 to November 1st, 2022. 537 pairs were matched based on a propensity score to control for other confounding factors. After propensity score matching, the baseline vitamin D levels were made consistent between the groups (P = 0.512). The incidence of depression in patients in vitamin D deficiency group following vitamin D supplementation was significantly higher than insufficiency group and reached statistical significance (P < 0.001). Additionally, we observed that serum 25-(OH) D concentration achieving insufficiency status after supplementation was 59.12%. CONCLUSION: Our study indicates that daily supplementation of 800IU of vitamin D can improve the depressive symptoms of individuals who are vitamin D deficiency during early pregnancy but achieve vitamin D insufficiency after supplementation during prenatal period.


Asunto(s)
Depresión , Suplementos Dietéticos , Complicaciones del Embarazo , Deficiencia de Vitamina D , Vitamina D , Humanos , Femenino , Embarazo , Deficiencia de Vitamina D/sangre , Deficiencia de Vitamina D/epidemiología , Deficiencia de Vitamina D/tratamiento farmacológico , Deficiencia de Vitamina D/complicaciones , Estudios Retrospectivos , Vitamina D/sangre , Vitamina D/administración & dosificación , Adulto , Depresión/epidemiología , Complicaciones del Embarazo/psicología , Complicaciones del Embarazo/tratamiento farmacológico , China/epidemiología , Incidencia , Vitaminas/administración & dosificación , Vitaminas/uso terapéutico , Atención Prenatal/métodos
10.
Int J Sports Physiol Perform ; 19(7): 637-644, 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38702046

RESUMEN

PURPOSE: Successful participation in taekwondo (TKD) requires athletes to possess quick decision-making abilities and demonstrate technical proficiency during competition. Dehydration, occurring during both training and competition, is widely recognized to have various negative effects. METHODS: This study investigated the impact of different levels of dehydration on cognitive function, as measured by the Vienna Test System, and the specific performance of kicking techniques among TKD athletes. Using a randomized crossover design, 12 participants were involved in the study. Before and after 1 hour of training at 80% of maximal heart rate, participants were weighed and provided urine samples. All participants were randomly assigned to 3 different hydration conditions: the euhydrated (EUH) group had unrestricted access to fluid consumption, while the hypohydrated (HYP) and severely HYP (S-HYP) groups experienced reductions of 2.0% and 4.0% of their initial body weight, respectively. RESULTS: The EUH group exhibited better reaction speed in reaction-time test-form S1 than the HYP and S-HYP groups. Notably, the EUH group demonstrated a significantly higher success rate in the front-side kick (EUH 98%, HYP 90%, S-HYP 88%; P < .05). However, the success rates of back roundhouse kick and free head kick were similar among the 3 statuses. Furthermore, postexercise heart rates were found to be significantly higher in the HYP and S-HYP groups compared with the EUH group. CONCLUSIONS: This study provides insight into the negative effects of dehydration on cognitive function and TKD-specific performance. It is recommended that TKD athletes maintain optimal hydration levels during training and competition to ensure optimal performance.


Asunto(s)
Rendimiento Atlético , Cognición , Estudios Cruzados , Deshidratación , Artes Marciales , Tiempo de Reacción , Humanos , Artes Marciales/fisiología , Deshidratación/fisiopatología , Cognición/fisiología , Adulto Joven , Masculino , Rendimiento Atlético/fisiología , Rendimiento Atlético/psicología , Femenino , Frecuencia Cardíaca/fisiología , Adulto
11.
Ann Med ; 56(1): 2346537, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38696817

RESUMEN

BACKGROUND: To investigate the effectiveness of the intervention with critical value management and push short messaging service (SMS), and to determine improvement in the referral rate of patients with positive hepatitis C antibody (anti-HCV). METHODS: No intervention was done for patients with positive anti-HCV screening results from 1 January 2015 to 31 October 2021. Patients with positive anti-HCV results at our hospital from 1 November 2021 to 31 July 2022 were informed vide critical value management and push SMS. For inpatients, a competent physician was requested to liaise with the infectious disease physician for consultation, and patients seen in the OPD (outpatient department) were asked to visit the liver disease clinic. The Chi-square correlation test, one-sided two-ratio test and linear regression were used to test the relationship between intervention and referral rate. RESULTS: A total of 638,308 cases were tested for anti-hepatitis C virus (HCV) in our hospital and 5983 of them were positive. 51.8% of the referred patients were aged 18-59 years and 10.8% were aged ≥75 years. The result of Chi-square correlation test between intervention and referral was p = .0000, p < .05. One-sided two-ratio test was performed for statistics of pre-intervention referral rate (p1) and post-intervention referral rate (p2). Normal approximation and Fisher's exact test for the results obtained were 0.000, p < .05, and the alternative hypothesis p1 - p2 < 0 was accepted. The linear regression equation was referral = 0.1396 × intervention + 0.3743, and the result model p = 8.79e - 09, p < .05. The model was significant, and the coefficient of intervention was 0.1396. CONCLUSIONS: The interventions of critical value management and push SMS were correlated with the referral rate of patients with positive anti-HCV.


Asunto(s)
Hepatitis C , Derivación y Consulta , Humanos , Derivación y Consulta/estadística & datos numéricos , Persona de Mediana Edad , Masculino , Femenino , Adulto , Anciano , Adolescente , Hepatitis C/tratamiento farmacológico , Hepatitis C/diagnóstico , Adulto Joven , Anticuerpos contra la Hepatitis C/sangre , Envío de Mensajes de Texto , Mejoramiento de la Calidad
12.
Medicine (Baltimore) ; 103(13): e37551, 2024 Mar 29.
Artículo en Inglés | MEDLINE | ID: mdl-38552066

RESUMEN

This study aimed to investigate the feasibility, indications, and benefits of transvaginal natural orifice transluminal endoscopic surgery (v-NOTES) hysterectomy for nonmalignant gynecological diseases. The clinical data, including the baseline information and surgical conditions of 81 patients who underwent v-NOTES hysterectomy for nonmalignant gynecological diseases in a tertiary university hospital from October 2018 to August 2022, were retrospectively analyzed and compared with the total laparoscopic hysterectomy group (200 cases) and the transumbilical laparoendoscopic Single Site Surgery group (150 cases). In comparison with the other 2 groups, the highest proportion of patients in the v-NOTES group had cervical intraepithelial neoplasia. Accordingly, mean preoperative uterine volume measured by sonography was significantly smaller in the v-notes group. In the v-NOTES group, the mean number of vaginal deliveries and age were significantly higher, while the mean number of previous abdominal surgeries was lower compared to the other 2 groups. The V-NOTES group had a shorter operation time, shorter postoperative urinary catheter insertion time, earlier intestinal recovery days, shorter hospital stay, and lower visual analogue scale scores after surgery, and the differences were statistically significant. When indicated appropriately, v-NOTES hysterectomy can be a feasible and advantageous surgical modality. In particular, in comparison to the laparoendoscopic Single Site Surgery and total laparoscopic hysterectomy groups, the v-NOTES group had advantages in postoperative recovery and had more aesthetic surgical results.


Asunto(s)
Laparoscopía , Cirugía Endoscópica por Orificios Naturales , Femenino , Humanos , Histerectomía Vaginal/métodos , Estudios Transversales , Estudios Retrospectivos , Histerectomía/métodos , Cirugía Endoscópica por Orificios Naturales/métodos , Laparoscopía/métodos
13.
Gynecol Oncol ; 184: 198-205, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38335803

RESUMEN

OBJECTIVE: To investigate the impact of lymph-vascular space invasion (LVSI) status on the prognosis of endometrial cancer (EC) according to a three-tiered scoring system for LVSI. METHODS: PubMed, Embase, Cochrane Central Register of Controlled Trials (CENTRAL), International Clinical Trials Registry Platform (ICTRP), and Clinical Trials.gov were searched from inception to September 1st, 2023. The analysis was conducted using STATA 16.0. RESULTS: A total of 9 studies with 4456 EC patients were included in the analysis. No LVSI was found in 72% of EC patients (95% CI 0.65-0.79), while focal and substantial LVSI were present in 16% (95% CI 0.11-0.21) and 13% (95% CI 0.08-018) of patients, respectively. Compared to the no LVSI group, the focal and substantial LVSI groups had poorer overall survival (for focal LVSI: HR 1.33, 95% CI 1.02-1.74; for substantial LVSI: HR 2.51, 95% CI 1.61-3.90), poorer disease-free survival (for substantial LVSI: HR 2.86, 95% CI 1.21-6.77), and an increased risk of recurrence, including pelvic recurrence (for focal LVSI: HR 2.05, 95% CI 1.03-4.07; for substantial LVSI: HR 6.06, 95% CI 3.31-11.08), distant recurrence (for focal LVSI: HR 2.04, 95% CI 1.42-2.92; for substantial LVSI: HR 3.36, 95% CI 2.35-4.793), and lymph node involvement (for focal LVSI: OR 3.52, 95% CI 1.339.34; for substantial LVSI: OR 5.42, 95% CI 2.78-10.58). Substantial LVSI was more prone to pelvic recurrence (HR 1.82, 95% CI 1.05-3.15) and distant recurrence (HR 2.21, 95% CI 1.48-3.28) than focal LVSI. CONCLUSIONS: EC patients with focal and substantial LVSI had poorer survival, recurrence, and a higher incidence of lymph node metastasis than patients without LVSI. The substantial LVSI group was associated with even worse prognosis than the focal LVSI group. The three-tiered LVSI scoring system might effectively predict the prognosis of EC and guide clinical decision-making. PROTOCOL REGISTRATION: CRD 42023451793.


Asunto(s)
Neoplasias Endometriales , Metástasis Linfática , Invasividad Neoplásica , Humanos , Femenino , Neoplasias Endometriales/patología , Neoplasias Endometriales/mortalidad , Pronóstico , Vasos Linfáticos/patología , Ganglios Linfáticos/patología
16.
J Vis Exp ; (204)2024 Feb 02.
Artículo en Inglés | MEDLINE | ID: mdl-38372363

RESUMEN

DNA double-strand breaks (DSBs) represent the most perilous DNA lesions, capable of inducing substantial genetic information loss and cellular demise. In response, cells employ two primary mechanisms for DSB repair: nonhomologous end joining (NHEJ) and homologous recombination (HR). Quantifying the efficiency of NHEJ and HR separately is crucial for exploring the relevant mechanisms and factors associated with each. The NHEJ assay and HR assay are established methods used to measure the efficiency of their respective repair pathways. These methods rely on meticulously designed plasmids containing a disrupted green fluorescent protein (GFP) gene with recognition sites for endonuclease I-SceI, which induces DSBs. Here, we describe the extrachromosomal NHEJ assay and HR assay, which involve co-transfecting HEK-293T cells with EJ5-GFP/DR-GFP plasmids, an I-SceI expressing plasmid, and an mCherry expressing plasmid. Quantitative results of NHEJ and HR efficiency are obtained by calculating the ratio of GFP-positive cells to mCherry-positive cells, as counted by flow cytometry. In contrast to chromosomally integrated assays, these extrachromosomal assays are more suitable for conducting comparative investigations involving multiple established stable cell lines.


Asunto(s)
Roturas del ADN de Doble Cadena , Reparación del ADN , Humanos , Proteínas Fluorescentes Verdes/genética , Células HEK293 , Recombinación Homóloga , Reparación del ADN por Unión de Extremidades
17.
J Int Soc Sports Nutr ; 21(1): 2300259, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38193521

RESUMEN

BACKGROUND: Maintaining proper immune function and hormone status is important for athletes to avoid upper respiratory tract infection (URTI) and insufficient recovery, which is detrimental to sport performance and health. The aim of this study was to evaluate whether three-week supplementation of L-glutamine could benefit the mucosal immunity and hormonal status of combat-sport athletes as well as their rates of upper respiratory tract infection (URTI) and subjective feelings of well-being after intensive training. METHODS: Twenty-one combat-sport athletes from the National Taiwan University of Sport were recruited in this study. After intensive training, two groups of the participants were asked to consume powder form of 0.3 g/kg body weight of L-glutamine (GLU group) or maltodextrin (PLA group) with drinking water in a randomized design at the same time every day during 3 weeks. Saliva samples were collected to measure immunoglobulin A (IgA), nitric oxide (NO), testosterone (T) and cortisol (C) before and after three-week supplementation; moreover, Hooper's index questionnaires were completed for wellness assessment. The incidence and duration of URTI were recorded by using a health checklist throughout the entire study period. RESULTS: Supplementation of L-glutamine significantly enhanced the concentrations of IgA and NO in saliva; additionally, the incidence of URTI was significantly reduced. Regarding hormones, T concentration was significantly decreased in the PLA group, whereas C concentration was significantly increased, resulting in a significant decrease of T/C ratio. In contrast, the GLU group showed a significant increase of T/C ratio, while the mood scores of the Hooper's index questionnaire were higher in the PLA group. CONCLUSIONS: Three-week supplementation of L-glutamine after intensive training enhanced the mucosal immunity, improved hormonal status and reduced the rate of URTI of combat-sport athletes while feelings of well-being were also enhanced. Therefore, L-glutamine would be beneficial for the sports performance and recovery of athletes.


Asunto(s)
Rendimiento Atlético , Infecciones del Sistema Respiratorio , Humanos , Glutamina , Inmunidad Mucosa , Atletas , Inmunoglobulina A , Óxido Nítrico , Infecciones del Sistema Respiratorio/prevención & control , Suplementos Dietéticos , Poliésteres
18.
Mol Genet Genomic Med ; 12(1): e2356, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38284442

RESUMEN

BACKGROUND: Cryptic translocations can be identified via genetic analysis of aborted tissues or malformed infants, but it is difficult to deduce the parental origins of the translocations. In the absence of such information, it is not easy to distinguish translocations from normal embryos during pre-implantation genetic testing, that seeks to block familial transmission of translocations. METHODS: Here, we present a new method that detects cryptic translocations and blocks familial transmission thereof. Whole-genome, low-coverage mate-pair sequencing (WGLMPS) revealed chromosome breakpoint sequences, and preimplantation genetic haplotyping (PGH) was then used to discard embryos with cryptic translocations. RESULTS: Cryptic translocations were found in all four families, and familial transmission was successfully blocked in one family. CONCLUSION: Whole-genome, low-coverage mate-pair sequencing combined with preimplantation genetic haplotyping methods powerfully and practically identify cryptic translocations and block familial transmissions.


Asunto(s)
Pruebas Genéticas , Translocación Genética , Humanos , Puntos de Rotura del Cromosoma , Reordenamiento Génico
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