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In this retrospective analysis, we evaluated the impact of age on the outcome of patients with multiple myeloma who received an autologous hematopoietic stem cell transplantation (auto-HCT) at our institution. A total of 1128 patients were divided into the older (>70 years; 182 [16%]) and the younger (≤70 years; 946 [84%]) groups. Compared with the younger cohort, older patients had a higher International Staging System (ISS) stage (ISS-II, 57 [31%] versus 215 [23%]; ISS-III, 52 [28%] versus 211 [22%]; P = .01), higher use of reduced-dose melphalan as a conditioning regimen (140 mg/m², 59 [32%] versus 29 [3%]; P < .001), and a higher comorbidity index (median, 3 versus 2; P = .01). Nonrelapse mortality at 1 year after auto-HCT was significantly higher in older patients (7 [4%] versus 9 [1%]; hazard ratio [HR], 4.1; P = .005). Complete remission rates after auto-HCT for the older and the younger groups were 41% and 46%, respectively. With a median follow-up of 52 months, the 5-year progression-free survival (PFS) was 24% (95% confidence interval [CI], 17% to 32%) and 37% (95% CI, 33% to 40%) in the older and younger groups, respectively (HR, 1.3; P = .02). Five-year OS for the older and younger groups was 56% (95% CI, 47% to 64%) and 73% (95% CI, 70% to 76%; P < .001), respectively. Older age emerged as one of the predictors of shorter OS but not PFS in the multivariate classification and regression tree analysis. In conclusion, age ≥70 years was associated with shorter PFS and OS in patients with multiple myeloma who underwent an auto-HCT.
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Transplante de Células-Tronco Hematopoéticas , Mieloma Múltiplo , Idoso , Intervalo Livre de Doença , Humanos , Mieloma Múltiplo/terapia , Prognóstico , Estudos Retrospectivos , Condicionamento Pré-Transplante , Transplante Autólogo , Resultado do TratamentoRESUMO
The gain/amplification CKS1B gene at chromosome region 1q21 (1q+) is one of the most common genetic aberrations in multiple myeloma (MM). Amplification of CKS1B is frequently associated with the deletion of the CDKN2C gene at chromosome region 1p32 (1p-), which is also associated with inferior outcomes. In this retrospective study, we evaluated the outcomes of patients with 1q+ and/or 1p- after high-dose therapy and autologous hematopoietic cell transplantation (auto-HCT). From January 2006 to December 2015, 1491 newly diagnosed patients with MM underwent upfront high-dose therapy and auto-HCT at our institution. Of those, 899 had the fluorescent in situ hybridization (FISH) data available. FISH was performed at diagnosis and before the start of induction in 686 (76%) patients and after the initiation of induction therapy in 213 (24%) patients. We identified 100 patients with 1q+ and/or 1p- by FISH from the cohort of 899 patients. A control group (n = 287) with diploid cytogenetics and normal FISH panel was selected from the same cohort. From the above 2 cohorts, using a propensity score matched analysis, we identified matched controls for 85 of the 100 patients with 1q+/1p-. Patients were matched for age at auto-HCT, sex, International Staging System stage, induction regimen, creatinine level, disease status at auto-HCT, conditioning regimen, and maintenance therapy. Sixty-seven (79%), 4 (5%), and 14 (16%) patients had 1q+, 1p-, or both 1q+ and 1p-, respectively. There was no significant difference in induction therapy, preparative regimen, or maintenance therapy between the 1q+/1p- and the control group. The median follow-up time for all patients was 29.2 months (range, 0.29 to 84.96). The cumulative incidence of 100-day nonrelapse mortality was 1.2% and 0% for the 1q+/1p- and the control group, respectively. Forty-two patients (50%) in the 1q+/1p- group achieved complete response compared with 40 patients (47%) in the control group. The estimated 3-year progression-free survival (PFS) and overall survival (OS) rates were 41% and 79% for the 1q+/1p- group and 56% and 86% for the control group. Patients in the 1q+/1p- group were at significantly increased risk of progression or death compared to the control group (hazard ratio [HR], 2.21; confidence interval [CI], 1.18 to 4.16; P = .014). No significant association between OS in the 2 groups was observed. The outcome of the 1q+/1p- alone (with no additional high-risk cytogenetics) and the propensity score matched control groups was also compared. Median PFS for the 1q+/1p- alone subgroup was 26.6 months, compared with 38.8 months for the control group (HR, 1.9; CI, 0.9 to 4.08; P = .09). The median OS had not been reached for the 1q+/1p- alone subgroup and was 81.1 months for the control group (HR, 1.25; CI, 0.3 to 4.6; P= .73). 1q+/1p- abnormalities with amplification of CKS1B and deletion ofCDKN2Cgenes were associated with shorter PFS compared with a propensity score matched group of patients with diploid cytogenetics and normal a FISH panel. The outcomes of 1q+/1p- patients with MM have improved with the use of more effective induction, conditioning, and maintenance therapy compared with historical controls, but we still need more effective therapeutic approaches to fully overcome the negative impact of 1q+/1p-.
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Transplante de Células-Tronco Hematopoéticas , Mieloma Múltiplo , Cromossomos , Humanos , Hibridização in Situ Fluorescente , Mieloma Múltiplo/genética , Mieloma Múltiplo/terapia , Pontuação de Propensão , Estudos Retrospectivos , Transplante Autólogo , Resultado do TratamentoRESUMO
INTRODUCTION: The American Academy of Pediatrics views Certified Child Life Specialists (CCLS) as "an important component of pediatric hospital based care to address the psychosocial concerns that accompany hospitalization." CCLSs help patients and parents navigate the complex medical system in order to minimize psychosocial and emotional stress by implementing age appropriate coping skills. This survey explores the perceptions towards CCLS and their utilization with pediatric urology. MATERIALS AND METHODS: A Survey Monkey questionnaire was developed and distributed to Society for Pediatric Urology members (SPU) (n = 314). Providers were queried about CCLS implementation and their perception regarding CCLS's role in improving health related quality of life (HRQOL). RESULTS: There was a 34.1% response rate (n = 107). Ninety-four providers (87.9%) reported CCLS interaction with their patients and greater than 95% of providers felt CCLS imparted some degree of benefit to their patients' HRQOL. Only 4.7% felt CCLS offered no benefit to the patients. CCLS were consistently used in a minority of inpatient and outpatient settings and never in the radiological setting. They were used at least 50% of the time by the most responders in inpatient and radiological setting and nearly the same in the ambulatory surgery setting. CONCLUSIONS: This survey illuminates that the majority of providers interact with CCLS in clinical settings and believe their involvement is beneficial. However, CCLSs are under-utilized during invasive urological procedures where patient anxiety is high. By understanding perceptions of providers and their practice patterns we can overcome barriers to CCLS use and improve their quality of life.
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Atitude do Pessoal de Saúde , Criança Hospitalizada , Diagnóstico por Imagem , Pessoal de Saúde , Urologia/estatística & dados numéricos , Assistência Ambulatorial/psicologia , Assistência Ambulatorial/estatística & dados numéricos , Procedimentos Cirúrgicos Ambulatórios/psicologia , Procedimentos Cirúrgicos Ambulatórios/estatística & dados numéricos , Criança , Criança Hospitalizada/psicologia , Criança Hospitalizada/estatística & dados numéricos , Diagnóstico por Imagem/psicologia , Diagnóstico por Imagem/estatística & dados numéricos , Família , Pesquisas sobre Atenção à Saúde , Pessoal de Saúde/psicologia , Pessoal de Saúde/estatística & dados numéricos , Hospitalização/estatística & dados numéricos , Humanos , Pacientes Internados/estatística & dados numéricos , Pacientes Ambulatoriais/estatística & dados numéricos , Qualidade de VidaRESUMO
Appropriate clinical waste management is a critical concern in today's era. Resource-constrained countries agonize greatly over this issue in order to mitigate inappropriate clinical waste management practices. The goal of this study is to assess factors behind inappropriate waste management of small clinics in resource-constrained countries. We tested the hypothesis that negligence of government, knowledge and awareness, and financial burden are three key factors behind inappropriate solid waste management of small clinics. A two-phase survey including a pilot study and a main study was conducted for exploratory factor analysis and confirmatory factor analysis, respectively, in the fourth largest city of Pakistan, i.e., Hyderabad. One sample t test was used to validate the hypothesis, the correlation between the three key factors, and the location of the clinics were established. These factors were found to have a contribution to inappropriate waste management of small clinics. The hypothesis was then validated, and all three factors were found to have no significant variation in responses with the contrast of three types of clinic locations, namely, low-, medium-, and high-income areas. Responses were almost identical and bear equal significance from all locations, the financial burden factor is at the highest, the second factor is the negligence of government, and the third factor is that of knowledge and awareness. This study highlights the factors that are usually neglected and can help to improve solid waste management of small clinics in resource-constrained countries.
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Instituições de Assistência Ambulatorial , Resíduos Sólidos , Gerenciamento de Resíduos , Instituições de Assistência Ambulatorial/economia , Instituições de Assistência Ambulatorial/organização & administração , Instituições de Assistência Ambulatorial/normas , Monitoramento Ambiental , Análise Fatorial , Humanos , Paquistão , Projetos Piloto , Gerenciamento de Resíduos/economia , Gerenciamento de Resíduos/normasRESUMO
Healthcare waste encompasses a significant quantity of hazardous substances. Poor healthcare waste management can result in serious environmental and human health risks. Asian developing countries are densely populated, and some are highly resource constrained. These countries commonly fail to practice appropriate healthcare waste management. Moreover, facilities in these countries extensively lack proper waste segregation, collection, safe storage, transportation, and disposal. This mini-review recapitulates key issues of healthcare waste management confronting Asian developing countries. Regulations, legislation, and policies are found to be recent, and their implementation varies from one another. Variation in waste generation rate is common. Contradictory methods of waste measurement used by researchers leave these variations questionable. The absence of waste management training programmes roots ignorance among staff and handlers, which leads to unsafe waste handling and causes different health risks. Unsafe and illegal recycling of hazardous waste is a threat to human health, also landfilling is often confused with open dumping, causing environmental damage. Outdated incineration plants need to be replaced with autoclaving, steam sterilisation, and comparatively reasonable new practice of pyrolysis to avoid the emission of toxic gases. The significance of proper healthcare waste management cannot be ignored, especially in Asian developing countries; substantial improvements are required in order to protect the environment and human health from serious risks.
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Eliminação de Resíduos de Serviços de Saúde , Gerenciamento de Resíduos , Ásia , Países em Desenvolvimento , Resíduos Perigosos , HumanosRESUMO
OBJECTIVE: To determine how the use of United States Medical Licensing Examination (USMLE) score cutoffs during the screening process of the Urology Residency Match Program may affect recruitment of applicants who are underrepresented in medicine (URM). MATERIALS AND METHODS: Deidentified data from the Association of American Medical Colleges' (AAMC) Electronic Residency Application Service (ERAS) system was reviewed, representing all applicants to our institution's urology residency program from 2018 to 2022. We analyzed self-reported demographic variables including race/ethnicity, age, sex/gender, as well as USMLE Step 1 and Step 2 scores. Chi-square tests and ANOVA were used to determine the association between race/ethnicity and other sociodemographic factors and academic metrics. Applicants were stratified according to USMLE Step 1 cutoff scores and the distribution of applicants by race/ethnicity was assessed using a Gaussian nonlinear regression fit. RESULTS: A total of 1258 applicants submitted applications to our program during the 5-year period, including 872 males (69.3%) and 386 females (30.7%). Most applicants were White (43.5%), followed by Asian (28.3%), Hispanic/Latino (11.7%), and Black (7.0%). There was an association between race/ethnicity and USMLE scores. Median USMLE Step 1 scores for White, Asian, Hispanic/Latino, and Black applicants were 242, 242, 237, and 232, respectively (P < .001). As cutoff score increases, percentage of URM applicants decreases. CONCLUSION: The use of cutoffs based on USMLE scores disproportionately affects URM applicants. Transitioning from numeric scores to pass/fail may enhance holistic review processes and increase the representation of URM applicants offered interviews at urology residency programs.
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Internato e Residência , Urologia , Humanos , Internato e Residência/estatística & dados numéricos , Urologia/educação , Estados Unidos , Masculino , Feminino , Adulto , Seleção de Pessoal/estatística & dados numéricos , Seleção de Pessoal/normas , Licenciamento em Medicina/estatística & dados numéricos , Grupos Minoritários/estatística & dados numéricosRESUMO
Background: Conventional operative insufflation uses a one-way trocar to handle instruments while maintaining pneumoperitoneum. In 2007, the AirSeal® valveless trocar insufflation system was introduced, which maintains stable pneumoperitoneum while continuously evacuating smoke. Although this device has been validated in adult patients, it has not been extensively validated in the pediatric population. Materials and Methods: A retrospective cohort study of pediatric urology patients aged 0 to 21 who underwent laparoscopic pyeloplasty between March 2016 and October 2021 was performed. Intraoperative physiologic parameters, procedure characteristics, postoperative outcomes, and demographics of each patient in whom either AirSeal insufflation system (AIS) or conventional insufflation system (CIS) was utilized were obtained from hospital records. Data were compared across the AIS and CIS cohorts. The primary outcomes were intraoperative anesthetic and physiologic parameters, including end tidal carbon dioxide, oxygen saturation, body temperature, positive inspiratory pressure, systolic blood pressure, and heart rate. Results: There were no significant differences in the anesthetic and physiologic parameters in the AIS and CIS groups. In addition, no differences in demographics, procedural characteristics, or complication rates were found between the cohorts. Conclusion: The AirSeal valveless trocar insufflation system demonstrates comparable intraoperative anesthetic and physiologic outcomes compared to conventional one-way valve insufflation in pediatric laparoscopic pyeloplasty. Certain surgeon-related qualitative metrics are underappreciated in this study, however, including improved visualization with vigorous suctioning and pressure maintenance with frequent instrument exchanges. Surgeon experience may mask the benefits of these characteristics as it pertains to quantitative surgical outcomes such as estimated blood loss, operative time, and perioperative complications.
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Anestésicos , Insuflação , Laparoscopia , Pneumoperitônio , Urologia , Adulto , Humanos , Criança , Insuflação/métodos , Estudos Retrospectivos , Laparoscopia/métodos , Instrumentos Cirúrgicos , Dióxido de Carbono , Pneumoperitônio Artificial/métodosRESUMO
BACKGROUND: Transcatheter edge-to-edge repair (TEER) of the mitral valve has emerged as the standard treatment for patients with mitral regurgitation (MR) with high surgical risk. Even though MitraClip is widely used, the novel PASCAL device system offers distinct technical features. We aim to study the safety and efficacy of the PASCAL repair system in clinically significant MR. METHODS: PubMed, Medline, Cochrane Central Register of Controlled Trials, and EMBASE were searched for articles published from August 2016 until June 2022 to identify studies that investigated the safety and efficacy of PASCAL for patients with degenerative, functional and mixed MR. Primary performance endpoints were technical, device, and procedural successes. Primary safety endpoint was composite 30 day major adverse events (MAE). Secondary endpoints were MR grade at discharge and 30 days, 30 day postprocedural NYHA functional class, left ventricular ejection fraction (LVEF), change in 6-min walk distance (6MWD), 30-day and 12-month all-cause mortality. RESULTS: We included twelve retrospective and prospective observational studies and one randomized controlled study consisting of 1028 patients with severe, symptomatic MR (NYHA III-IV: 84.0%, MR ≥ 3+: 99.7%) and high surgical risk (mean logistic EuroSCORE of 16.4).Technical success was 95.7%, procedural success was 95.2%, and device success was 86.1% relative to the weighted average. MR grade was ≤2+ in 94.7% of patients at discharge and 94.0% patients at 30-day follow-up. Mean 30-day and 12-month mortality after device implantation were 4.54% and 12.2%. CONCLUSION: The PASCAL repair system appears to be a safe and effective therapeutic option to treat severe, symptomatic MR in high surgical risk patients.
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Implante de Prótese de Valva Cardíaca , Insuficiência da Valva Mitral , Humanos , Insuficiência da Valva Mitral/cirurgia , Volume Sistólico , Implante de Prótese de Valva Cardíaca/efeitos adversos , Estudos Retrospectivos , Função Ventricular Esquerda , Resultado do Tratamento , Cateterismo Cardíaco , Estudos Observacionais como AssuntoRESUMO
Description Atrial fibrillation (AF) remains the most common arrhythmia worldwide and is expected to affect approximately 12 million individuals in the United States alone by 2030. Thromboembolic events remain a feared complication of AF and should be treated and risk-stratified utilizing the CHA2DS2-VASc scoring system. Other complications of AF span a wide spectrum from impaired quality of life (QoL) to an increase in all-cause mortality. Rate control strategies consist of controlling the ventricular rate and have been shown to be a safe and effective strategy for asymptomatic AF patients. In patients who are plagued with symptoms leading to impaired QoL or a decrease in exercise capacity, rhythm control with antiarrhythmic drugs or catheter ablation may be suitable options. Mortality benefits when comparing rate versus rhythm control remain equivocal when comparing multiple studies over the past decade.
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We present a case of chemotherapy refractory spindle cell rhabdomyosarcoma of the lower urinary tract in a 15-month-old female that ultimately required consolidative surgery with cystectomy, urethrectomy, ovarian-sparing hysterectomy, bilateral salpingectomy, anterior vaginal wall resection, and bilateral pelvic lymph node dissection. Genitourinary reconstruction was performed by ileal conduit creation and vaginoplasty. After completion of her maintenance postoperative chemotherapy regimen, the patient has remained disease-free for approximately 27 months.
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Rabdomiossarcoma , Neoplasias da Bexiga Urinária , Derivação Urinária , Humanos , Feminino , Lactente , Bexiga Urinária/cirurgia , Bexiga Urinária/patologia , Neoplasias da Bexiga Urinária/tratamento farmacológico , Neoplasias da Bexiga Urinária/cirurgia , Neoplasias da Bexiga Urinária/patologia , Cistectomia , Rabdomiossarcoma/tratamento farmacológico , Rabdomiossarcoma/cirurgiaRESUMO
BACKGROUND: Clean birth practices can prevent sepsis, one of the leading causes of both maternal and newborn mortality. Evidence suggests that clean birth kits (CBKs), as part of package that includes education, are associated with a reduction in newborn mortality, omphalitis, and puerperal sepsis. However, questions remain about how best to approach the introduction of CBKs in country. We set out to develop a practical decision support tool for programme managers of public health systems who are considering the potential role of CBKs in their strategy for care at birth. METHODS: Development and testing of the decision support tool was a three-stage process involving an international expert group and country level testing. Stage 1, the development of the tool was undertaken by the Birth Kit Working Group and involved a review of the evidence, a consensus meeting, drafting of the proposed tool and expert review. In Stage 2 the tool was tested with users through interviews (9) and a focus group, with federal and provincial level decision makers in Pakistan. In Stage 3 the findings from the country level testing were reviewed by the expert group. RESULTS: The decision support tool comprised three separate algorithms to guide the policy maker or programme manager through the specific steps required in making the country level decision about whether to use CBKs. The algorithms were supported by a series of questions (that could be administered by interview, focus group or questionnaire) to help the decision maker identify the information needed. The country level testing revealed that the decision support tool was easy to follow and helpful in making decisions about the potential role of CBKs. Minor modifications were made and the final algorithms are presented. CONCLUSION: Testing of the tool with users in Pakistan suggests that the tool facilitates discussion and aids decision making. However, testing in other countries is needed to determine whether these results can be replicated and to identify how the tool can be adapted to meet country specific needs.
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Pessoal Administrativo , Técnicas de Apoio para a Decisão , Infecção Puerperal/prevenção & controle , Sepse/prevenção & controle , Algoritmos , Parto Obstétrico/instrumentação , Parto Obstétrico/métodos , Feminino , Grupos Focais , Parto Domiciliar/instrumentação , Parto Domiciliar/métodos , Humanos , Recém-Nascido , Paquistão , GravidezRESUMO
Malignant priapism, or priapism secondary to locally invasive or metastatic cancer, is a rarely reported phenomenon with a very poor prognosis. We report on a case of malignant priapism secondary to metastasis of urothelial carcinoma of the bladder in a 73 year old gentleman who underwent a radical cystectomy with negative margins but positive nodal disease three months prior to presentation. The rapid progression of disease and resultant demise of this patient is unusual even when compared to the limited available literature. Rapid progression to muscle invasion despite intravesical immunotherapy, histologic involvement of the prostate and seminal vesicles with extensive lymphovascular invasion, and the rapid development of metastasis are all consistent with the aggressive nature of a cancer that has metastasized to the penis. Further, while conservative penile sparing therapy may be a goal in patients with limited life expectancy, ongoing pain and infectious concerns may force the physician to resort to a penectomy.
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Neoplasias Penianas/complicações , Neoplasias Penianas/secundário , Priapismo/etiologia , Neoplasias da Bexiga Urinária/patologia , Idoso , Evolução Fatal , Humanos , Imageamento por Ressonância Magnética , Masculino , Neoplasias Penianas/diagnóstico , PrognósticoRESUMO
A 64-year-old patient came to urology OPD with a manually inserted electric wire piece in the urethra. A plain X-ray KUB confirmed the location of an electric wire in the urethra extending to the bladder. He was scheduled for a cystoscopy, on which it was observed that there was an electric wire piece present in the urethra, which was removed under direct vision. There were no postoperative complications. This case report provides a brief overview of the condition presentation and evaluation. The key consideration for the management of such cases with review of the literature are discussed in detail.
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Iatrogenic aortic dissection is a rare but potentially fatal complication of percutaneous coronary intervention (PCI). Iatrogenic aortic dissection following PCI is rare with most cases reporting dissection originating within the coronary vessels with propagation into the ascending aorta. In this specific case, dissection was without coronary involvement, with dissection extending from the ascending aorta into the descending aorta and iliac vessels. Although PCI via radial approach is associated with fewer vascular complications than with femoral approach, significant adverse outcomes may still occur and require prompt intervention. This case highlights the highly atypical presentation of iatrogenic aortic dissection following cardiac catheterization presenting as acute limb ischemia. In such patients as with ours, immediate surgical intervention is necessary with overall poor prognosis.
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Bacteria, fungi and grasses use siderophores to access micronutrients. Hence, the metal binding efficiency of siderophores is directly related to ecosystem productivity. Salinization of natural solutions, linked to climate change induced sea level rise and changing precipitation patterns, is a serious ecological threat. In this study, we investigate the impact of salinization on the zinc(II) binding efficiency of the major siderophore functional groups, namely the catecholate (for bacterial siderophores), α-hydroxycarboxylate (for plant siderophores; phytosiderophores) and hydroxamate (for fungal siderophores) bidentate motifs. Our analysis suggests that the order of increasing susceptibility of siderophore classes to salinity in terms of their zinc(II) chelating ability is: hydroxamate < catecholate < α-hydroxycarboxylate. Based on this ordering, we predict that plant productivity is more sensitive to salinization than either bacterial or fungal productivity. Finally, we show that previously observed increases in phytosiderophore release by barley plants grown under salt stress in a medium without initial micronutrient deficiencies, are in line with the reduced zinc(II) binding efficiency of the α-hydroxycarboxylate ligand and hence important for the salinity tolerance of whole-plant zinc(II) status.
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Wild progenitors are an excellent source for strengthening the genetic basis and accumulation of desirable variation lost because of directional selection and adaptation in modern cultivars. Here, we re-evaluate a landrace of Gossypium hirsutum, formerly known as Gossypium purpurascens. Our study seeks to understand the genomic structure, variation, and breeding potential of this landrace, providing potential insights into the biogeographic history and genomic changes likely associated with domestication. A core set of accessions, including current varieties, obsolete accessions, G. purpurascens, and other geographical landraces, are subjected to genotyping along with multilocation phenotyping. Population fixation statistics suggests a marked differentiation between G. purpurascens and three other groups, emphasizing the divergent genomic behavior of G. purpurascens. Phylogenetic analysis establishes the primitive nature of G. purpurascens, identifying it as a vital source of functional variation, the inclusion of which in the upland cotton (cultivated G. hirsutum) gene pool may broaden the genetic basis of modern cultivars. Genome-wide association results indicate multiple loci associated with domestication regions corresponding to flowering and fiber quality. Moreover, the conserved nature of G. purpurascens can also provide insights into the evolutionary process of G. hirsutum.
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Genoma de Planta , Gossypium/genética , Cromossomos de Plantas , Fibra de Algodão , Domesticação , Flores/genética , Variação Genética , Estudo de Associação Genômica Ampla , Genômica , Genótipo , Gossypium/classificação , Filogenia , Locos de Características Quantitativas/genéticaRESUMO
For about a century, plant breeding has widely exploited the heterosis phenomenon-often considered as hybrid vigor-to increase agricultural productivity. The ensuing F1 hybrids can substantially outperform their progenitors due to heterozygous combinations that mitigate deleterious mutations occurring in each genome. However, only fragmented knowledge is available concerning the underlying genes and processes that foster heterosis. Although cotton is among the highly valued crops, its improvement programs that involve the exploitation of heterosis are still limited in terms of significant accomplishments to make it broadly applicable in different agro-ecological zones. Here, F1 hybrids were derived from mating a diverse Upland Cotton germplasm with commercially valuable cultivars in the Line × Tester fashion and evaluated across multiple environments for 10 measurable traits. These traits were dissected into five different heterosis types and specific combining ability (SCA). Subsequent genome-wide predictions along-with association analyses uncovered a set of 298 highly significant key single nucleotide polymorphisms (SNPs)/Quantitative Trait Nucleotides (QTNs) and 271 heterotic Quantitative Trait Nucleotides (hQTNs) related to agronomic and fiber quality traits. The integration of a genome wide association study with RNA-sequence analysis yielded 275 candidate genes in the vicinity of key SNPs/QTNs. Fiber micronaire (MIC) and lint percentage (LP) had the maximum number of associated genes, i.e., each with 45 related to QTNs/hQTNs. A total of 54 putative candidate genes were identified in association with HETEROSIS of quoted traits. The novel players in the heterosis mechanism highlighted in this study may prove to be scientifically and biologically important for cotton biologists, and for those breeders engaged in cotton fiber and yield improvement programs.
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Cotton possesses certain physical features, including leaf and stem trichomes that help plants deter damage caused by insect pests, and to some extent, from abiotic factors as well. Among those features, trichomes (pubescence) hold a special place as a first line of defense and a managemental tool against sucking insect pests of cotton. Different insect pests of cotton (whiteflies, aphids, jassids, and boll weevil) severely damage the yield and quality of the crop. Likewise, whiteflies, aphids, jassids, and other insect pests are considered as potential carriers for cotton leaf curl viruses and other diseases. Genotyping by sequencing (GBS) study was conducted to understand and explore the genomic regions governing hairy (Pubescence) leaves and stem phenotypes. A total of 224 individuals developed from an intraspecific cross (densely haired cotton (Liaoyang duomao mian) × hairless cotton (Zong 128)) and characterized phenotypically for leaf and stem pubescence in different environments. Here we identify and report significant QTLs (quantitative trait loci) associated with leaf and stem pubescence, and the response of plant under pest (aphid) infestation. Further, we identified putative genes colocalized on chromosome A06 governing mechanism for trichome development and host-pest interaction. Our study provides a comprehensive insight into genetic architecture that can be employed to improve molecular marker-assisted breeding programs aimed at developing biotic (insect pests) resilient cotton cultivars.
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Afídeos/fisiologia , Cromossomos de Plantas/genética , Resistência à Doença/genética , Gossypium/genética , Doenças das Plantas/genética , Locos de Características Quantitativas , Tricomas/genética , Animais , Mapeamento Cromossômico , Resistência à Doença/imunologia , Ligação Genética , Genótipo , Gossypium/crescimento & desenvolvimento , Gossypium/parasitologia , Fenótipo , Doenças das Plantas/imunologia , Doenças das Plantas/parasitologia , Tricomas/crescimento & desenvolvimento , Tricomas/parasitologiaRESUMO
Upland cotton is the most economically important fibre crop. The human-mediated selection has resulted in modern upland cultivars with higher yield and better fibre quality. However, changes in genome structure resulted from human-mediated selection are poorly understood. Comparative population genomics offers us tools to dissect the genetic history of domestication and helps to understand the genome-wide effects of human-mediated selection. Hereby, we report a comprehensive assessment of Gossypium hirsutum landraces, obsolete cultivars and modern cultivars based on high throughput genome-wide sequencing of the core set of genotypes. As a result of the genome-wide scan, we identified 93 differential regions and 311 selection sweeps associated with domestication and improvement. Furthermore, we performed genome-wide association studies to identify traits associated with the differential regions and selection sweeps. Our study provides a genetic basis to understand the domestication process in Chinese cotton cultivars. It also provides a comprehensive insight into changes in genome structure due to selection and improvement during the last century. We also identified multiple genome-wide associations (GWAS associations) for fibre yield, quality and other morphological characteristics.
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INTRODUCTION AND OBJECTIVES: Anorectal malformations (ARMs) represent a complex spectrum of anorectal and genitourinary anomalies and a paucity of evidence is available on long-term urologic outcomes in all ARM subtypes. It was our subjective bias from being a referral center for ARM patients that the subtype of rectovestibular fistula and absent vagina had higher risk of renal and bladder abnormalities than typical rectovestibular fistula patients. Therefore, to confirm or refute our clinical suspicions, the purpose of this study was to review this specific cohort of ARM patients and describe both the clinical urological and urodynamic outcomes. METHODS: A retrospective cohort study was performed for 120 patients who were treated for ARM and vaginal replacement at our institution between 1991 and 2017. Fifteen patients with rectovestibular fistula and absent vagina were included in our review. Demographic and clinical data were abstracted from their medical records, including urodynamic findings, need for clean intermittent catheterization (CIC), urinary continence, and renal function. RESULTS: Vaginal replacement surgery was undertaken concomitantly with ARM repair in 10 of the 15 patients (67%). One patient was lost to follow up, and mean follow up postoperatively was 39â¯months. In all but one patient, rectum or colon was used as the substrate for vaginal replacement. Of the 15 patients, 13 had continence data available. A total of 10 patients (77%) were able to achieve social continence. Overall six patients used CIC to manage their bladder and 40% of continent patients used CIC. Urinary continence outcomes in patients who had partial vaginal replacement compared to those with total vaginal replacement did not reveal a clinically significant difference. Continence was achieved in 3/4 patients (75%) with a history of tethered cord compared to 7/9 patients (78%) without a history of tethered cord release. Urodynamics were performed postoperatively in 7 of the 157 patients (47%). Uninhibited detrusor contractions (UDCs) were present in 3 out of 7 patients, and a cystometric capacity greater than expected was noted in 4 patients. Additionally, 2 patients had end filling detrusor pressure greater than 40â¯cm H2O. GFR data were available for 13 of the 15 patients and (85%) were classified as chronic kidney disease (CKD) stage I or not having any significant loss of renal function. CONCLUSIONS: In this cohort of rectovestibular fistula and absent vagina, 77% reported achieving urinary continence. However CIC was employed in 40% of the patients which is higher than prior published noncloaca female ARM patient population. Urodynamic abnormalities were noted when performed and led to change in bladder management. Renal function measured with GFR was normal in 85%. Patients with rectovestibular fistula and absent vagina benefit from urologic screening given higher rates of lower urinary tract dysfunction that can require CIC to protect the upper urinary tract and achieve urinary continence. TYPE OF STUDY: Case series. LEVEL OF EVIDENCE: Level IV.