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1.
Urol Case Rep ; 56: 102809, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39157014

RESUMO

Schwannomas are tumors that commonly affect the nerve sheath, typically involving peripheral and cranial nerves. These tumors are rarely found within the pelvis and retroperitoneum. To date, there have been no documented cases of concurrent chromophobe renal cell carcinoma and pelvic schwannoma. We present the case of a 57-year-old female with a right renal mass significant for chromophobe renal cell carcinoma and a left pelvic mass found to be a schwannoma. This case highlights the importance of adding schwannoma to the differential when considering a pelvic mass in the setting of renal cell carcinoma.

2.
J AAPOS ; 28(1): 103810, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-38237725

RESUMO

PURPOSE: To explore the associations between race and retinoblastoma diagnosis in United States children. METHODS: In this analytical nonconcurrent cohort study, we used 1988-2018 data from the Surveillance, Epidemiology, and End-Results (SEER) database. Children ages 0-17 with retinoblastoma were included (n = 758); those with missing data were excluded (n = 11; final cohort: n = 747). The exposure variable was race (White, Black, Asian/Pacific Islanders, American Indian/Alaska Native), and the outcome variable was diagnosis of retinoblastoma before versus after 2 years of age. Covariates included sex, rural-urban continuum, ethnicity, decade of diagnosis, and laterality of disease. Unadjusted and adjusted logistic regression analyses were performed to calculate odds ratios and 95% confidence intervals. RESULTS: No statistically significant association was found between racial/ethnic groups (OR = 0.61-0.99; P = 0.92) and age at diagnosis (OR = 0.86; P = 0.66). Females were more likely to be diagnosed earlier than males (OR = 0.62; 95% CI, 0.44-0.88; P = 0.042). No association was found between urban versus rural subjects (OR = 1.02; 95% CI, 0.60-1.75) or between decades (OR = 0.81; 95% CI, 0.54-1.22 and OR 0.96; 95% CI, 0.62-1.47). CONCLUSIONS: We found no statistically significant difference between racial/ethnic groups for diagnosis of children with retinoblastoma after 2 years of age. Future studies could explore why females are more likely than males to be diagnosed before 2 years of age.


Assuntos
Neoplasias da Retina , Retinoblastoma , Masculino , Criança , Feminino , Humanos , Estados Unidos/epidemiologia , Retinoblastoma/diagnóstico , Retinoblastoma/epidemiologia , Estudos de Coortes , Etnicidade , Neoplasias da Retina/diagnóstico , Neoplasias da Retina/epidemiologia
3.
Sci Adv ; 9(34): eadg3247, 2023 08 25.
Artigo em Inglês | MEDLINE | ID: mdl-37611094

RESUMO

Does warmth from hydrothermal springs play a vital role in the biology and ecology of abyssal animals? Deep off central California, thousands of octopus (Muusoctopus robustus) migrate through cold dark waters to hydrothermal springs near an extinct volcano to mate, nest, and die, forming the largest known aggregation of octopus on Earth. Warmth from the springs plays a key role by raising metabolic rates, speeding embryonic development, and presumably increasing reproductive success; we show that brood times for females are ~1.8 years, far faster than expected for abyssal octopods. Using a high-resolution subsea mapping system, we created landscape-scale maps and image mosaics that reveal 6000 octopus in a 2.5-ha area. Because octopuses die after reproducing, hydrothermal springs indirectly provide a food supplement to the local energy budget. Although localized deep-sea heat sources may be essential to octopuses and other warm-tolerant species, most of these unique and often cryptic habitats remain undiscovered and unexplored.


Assuntos
Octopodiformes , Animais , Feminino , Suplementos Nutricionais , Planeta Terra , Ecologia , Incubadoras , Água
5.
Dis Model Mech ; 14(7)2021 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-34160002

RESUMO

Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorder caused by a CAG repeat expansion in the coding region of the ataxin-7 gene. Infantile-onset SCA7 patients display extremely large repeat expansions (>200 CAGs) and exhibit progressive ataxia, dysarthria, dysphagia and retinal degeneration. Severe hypotonia, aspiration pneumonia and respiratory failure often contribute to death in affected infants. To better understand the features of respiratory and upper airway dysfunction in SCA7, we examined breathing and putative phrenic and hypoglossal neuropathology in a knock-in mouse model of early-onset SCA7 carrying an expanded allele with 266 CAG repeats. Whole-body plethysmography was used to measure awake spontaneously breathing SCA7-266Q knock-in mice at baseline in normoxia and during a hypercapnic/hypoxic respiratory challenge at 4 and 8 weeks, before and after the onset of disease. Postmortem studies included quantification of putative phrenic and hypoglossal motor neurons and microglia, and analysis of ataxin-7 aggregation at end stage. SCA7-266Q mice had profound breathing deficits during a respiratory challenge, exhibiting reduced respiratory output and a greater percentage of time in apnea. Histologically, putative phrenic and hypoglossal motor neurons of SCA7 mice exhibited a reduction in number accompanied by increased microglial activation, indicating neurodegeneration and neuroinflammation. Furthermore, intranuclear ataxin-7 accumulation was observed in cells neighboring putative phrenic and hypoglossal motor neurons in SCA7 mice. These findings reveal the importance of phrenic and hypoglossal motor neuron pathology associated with respiratory failure and upper airway dysfunction, which are observed in infantile-onset SCA7 patients and likely contribute to their early death.


Assuntos
Degeneração Retiniana , Ataxias Espinocerebelares , Animais , Ataxina-7 , Modelos Animais de Doenças , Humanos , Camundongos , Proteínas do Tecido Nervoso/genética , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/patologia
6.
Front Surg ; 8: 652524, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33937316

RESUMO

Background: To evaluate robotic-assisted partial nephrectomy (RAPN) renal outcomes associated with ancillary pathology findings in non-neoplastic renal parenchymal tissue. Methods: Tissue samples from 378 RAPNs were analyzed for glomerular disease (GD), vascular disease (VD), and tubulointerstitial disease (TD). One hundred and fifty-two patients were excluded due to insufficient non-neoplastic tissue for analysis and 4 patients were excluded due to calyceal diverticulum. Non-neoplastic tissue was evaluated for GD (negative, moderate, or global), VD (absent, mild, moderate, or severe), and TD (present or absent). Associations of ancillary pathology factors with patient characteristics were explored using the non-parametric Kendall tau-test and propensity score adjusted longitudinal mixed effects regression models were used to evaluate associations of these pathology factors with changes in estimated glomerular filtration rate (eGFR) following RAPN. Results: One hundred and fifty-three (68.9%) patients had hypertension and 50 (22.5%) patients had diabetes. The majority of patients did not have any GD (N = 158, 71.2%) or TD (N = 186, 83.8%) while 129 (58.1%) had VD. VD was categorized as absent (N = 93, 41.9%), mild (N = 45, 20.3%), moderate (N = 76, 34.2%), and severe (N = 8, 6.8%). Older age (P = 0.018), hypertension (P < 0.001), and high grade MAP score (P = 0.047) were associated with a higher number of ancillary pathology factors. High grade MAP score (P = 0.03, P = 0.002) and hypertension (P = 0.02, P < 0.001) were individually associated with GD severity and VD severity, respectively. Older age was also individually associated with VD severity (P = 0.002) and hypertension was associated with TD (P = 0.04). Moderate-to-severe VD was associated with a worse change in eGFR from pre-RAPN to 1-month post-RAPN compared to those with mild or no VD (difference in mean change, -3.4 ml/kg/1.73m2; 95% CI, -6.6 to -0.2 ml/kg/1.73m2; P = 0.036). Conclusions: Moderate-to-severe VD in non-neoplastic renal parenchyma is associated with post-operative changes in eGFR. Older age, hypertension, and high grade MAP scores are associated with the number of ancillary pathologies observed in RAPN specimens.

7.
Transl Androl Urol ; 10(1): 227-235, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33532312

RESUMO

BACKGROUND: Adherent perinephric fat (APF) contributes to surgical complexity and can be associated with adverse perioperative outcomes for partial nephrectomy (PN). The Mayo Adhesive Probability (MAP) score accurately predicts the presence of APF during robotic-assisted partial nephrectomy (RAPN). Our primary aim is to validate MAP score as a predictor of APF in open partial nephrectomy (OPNx). METHODS: We reviewed 105 consecutive OPNx (100 patients) performed by a single surgeon with intraoperative determination of APF. We evaluated the ability of the MAP score to discriminate between those with APF and those without APF by estimating the area under the receiver operating characteristic curve (AUROCC). The association of perioperative outcomes with APF was evaluated as well. RESULTS: Forty-three patients [49%; 95% confidence interval (CI), 39-59%] had intraoperative identification of APF. The MAP score had excellent ability to predict APF in OPNx (AUROCC, 0.82; 95% CI, 0.74-0.92). APF was observed in 6% of patients with a MAP score of 0-1, 27% with score 2, 52% with score 3, 75% with score 4, and 90% with score 5. The presence of APF was associated with longer operative times (P=0.004) and higher estimated blood loss (EBL) (P=0.003). Although not statistically significant, our study did suggest that APF may be associated with postoperative complications and prolonged length of stay (LOS) (>3 days). CONCLUSIONS: MAP score accurately predicts the presence of APF in patients undergoing OPNx. APF is associated with longer operative time and higher blood loss in OPNx.

8.
J Laparoendosc Adv Surg Tech A ; 31(2): 189-193, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32584655

RESUMO

Background: The risk of renal cell carcinoma (RCC) development in the native kidney of patients on dialysis or with a renal transplant is increased compared to the general population. This study examines perioperative outcomes of laparoscopic radical nephrectomy (LN) in dialysis patients or renal transplant patients compared to normal controls. Methods: Four hundred twelve consecutive LN were evaluated (July 2007 to October 2018). Patients were divided into three groups (control, dialysis, and transplant). Perioperative outcomes, including operating room time (OT), postoperative complications, hospital length of stay, and 90-day readmission rates, were evaluated for the three groups. Results: There were 62 patients in the dialysis group, 20 renal transplants, and 330 normal controls. Dialysis patients were younger (median: 58 years versus 67 years; P = .002) and predominantly male (73% versus 59%, P = .047). Dialysis patients compared to controls had shorter total OT (median: 133 versus 149; P = .022), more papillary RCC (27% versus 10%; P < .001), and fewer high grade tumors (73% [8/11] versus 94% [100/106]; P = .038). Renal transplant patients had a higher rate of 90-day readmission (20% versus 6%; P = .034) and more papillary RCC (30% versus 10%; P = .016) compared to controls. Conclusion: LN on dialysis patients does not alter expected perioperative outcomes compared to a large cohort of control LN. LN on renal transplant patients carries a higher 90-day readmission rate than control LN.


Assuntos
Carcinoma de Células Renais/cirurgia , Neoplasias Renais/cirurgia , Transplante de Rim , Diálise Renal , Adulto , Idoso , Feminino , Humanos , Laparoscopia/efeitos adversos , Masculino , Pessoa de Meia-Idade , Nefrectomia/efeitos adversos , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos
9.
Int J Urol ; 28(1): 75-79, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33135845

RESUMO

OBJECTIVE: To validate the Martini nomogram predicting the decline in estimated glomerular filtration rate after robotic-assisted partial nephrectomy. METHODS: Estimated glomerular filtration rate of 406 patients from a single surgeon series was calculated before robotic-assisted partial nephrectomy and at postoperative intervals. To determine the risk group, we calculated the total score and corresponding risk of significant estimated glomerular filtration rate reduction at 15 months using the Martini nomogram. The primary outcome was a reduction in estimated glomerular filtration rate of ≥25% from preoperative levels between 1 and 12 months after surgery. RESULTS: The median length of follow up for this study was 12 months (interquartile range 6-12 months). Overall, 134 (33%) patients were in the low-, 143 (35%) in the intermediate-, 119 (29%) in the high- and 10 (2%) in the very high-risk groups. The Kaplan-Meier estimates for the probability of significant estimated glomerular filtration rate reduction by 12 months after robotic-assisted partial nephrectomy was 12.9% in the low-risk group, 24.0% in the intermediate-risk group, 49.7% in the high-risk group and 40.0% in the very high-risk group. Harrell's C-index for discriminating between those with and without a significant reduction in estimated glomerular filtration rate 1-12 months after robotic-assisted partial nephrectomy was 0.73 (95% confidence interval 0.68-0.78). CONCLUSIONS: The risk groups proposed by the Martini nomogram are accurate in predicting those at higher risk for a >25% decline in postoperative estimated glomerular filtration rate after robotic-assisted partial nephrectomy at 12 months.


Assuntos
Neoplasias Renais , Procedimentos Cirúrgicos Robóticos , Taxa de Filtração Glomerular , Humanos , Rim/cirurgia , Neoplasias Renais/cirurgia , Nefrectomia/efeitos adversos , Nomogramas , Estudos Retrospectivos , Procedimentos Cirúrgicos Robóticos/efeitos adversos , Resultado do Tratamento
10.
Urology ; 145: 141-146, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32958224

RESUMO

OBJECTIVES: To evaluate the association between excised parenchymal mass (EPM) and postoperative renal function (eGFR) following robotic-assisted partial nephrectomy (RAPN). EPM is the amount of healthy renal parenchyma excised during partial nephrectomy in order to achieve safe surgical margins. METHODS: We evaluated 406 consecutive RAPN performed by a single surgeon to eliminate variations in technique as a factor in EPM. EPM (mL) = (specimen volume * π/6) - (tumor volume * π/6). RENAL score was categorized as easy (4-6), moderate (7-9), or hard (10-12). EPM was grouped into four categories: ≤ 3.9 mL, 4.0-9.9 mL, 10.0-17.7 mL, and >17.7 mL. eGFR was evaluated preoperatively, postoperative day 1 (POD1), 1 month, and 6 months postoperatively. RESULTS: Median age was 63 years (22-84 years), 252 (62.1%) were male, and median EPM was 9.9 mL (interquartile range 3.9 to 17.7 mL). The median EPM and interquartile range for each RENAL category was 3.7 mL (2.0, 7.9), 12 mL (5.7, 19.4), and 16.2 mL (7.9, 24.3), respectively. Higher EPM was associated with worse changes in eGFR at POD1 (P = 0.005) and 1 month after RAPN (P = 0.002) but was not statistically significant at the 6-month time period (P = 0.35) CONCLUSION: Increased tumor complexity is associated with an increase in EPM during RAPN. Increased EPM is associated with eGFR decline at POD1 and 1 month post RAPN but not at 6 months postoperatively.


Assuntos
Neoplasias Renais/cirurgia , Rim/patologia , Nefrectomia/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Procedimentos Cirúrgicos Robóticos/efeitos adversos , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Taxa de Filtração Glomerular/fisiologia , Humanos , Rim/fisiopatologia , Rim/cirurgia , Neoplasias Renais/patologia , Masculino , Margens de Excisão , Pessoa de Meia-Idade , Nefrectomia/métodos , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/fisiopatologia , Estudos Retrospectivos , Medição de Risco/métodos , Procedimentos Cirúrgicos Robóticos/métodos , Carga Tumoral , Adulto Jovem
11.
Can J Urol ; 27(4): 10278-10284, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32861252

RESUMO

INTRODUCTION: To evaluate the utility of the Aorta-Lesion-Attenuation-Difference (ALAD) and Peak Early-phase Enhancement Ratio (PEER) on contrast-enhanced computed tomography (CT) to differentiate between the appearances of chromophobe renal cell carcinoma, clear cell renal cell carcinoma, and oncocytoma. MATERIAL AND METHODS: ALAD and PEER values were retrospectively measured by a reviewer from 119 patients with surgically resected renal masses (chromophobe renal cell carcinoma n = 29, clear cell renal cell carcinoma n = 28, and oncocytoma n = 62). The ALAD value is expressed as: ALAD = Hounsfield Units aorta - Hounsfield Units mass. PEER is expressed as (Hounsfield Units contrast tumor - Hounsfield Units non-contrast tumor):( Hounsfield Units contrast cortex - Hounsfield Units non-contrast cortex). RESULTS: The ALAD median was 27.6 for oncocytomas, 68.5 for chromophobe renal cell carcinoma, and 55.4 for clear cell renal cell carcinoma. A significant difference between ALAD values of oncocytoma and chromophobe renal cell carcinoma was observed in the nephrographic (area under the ROC curve 0.92) and excretory phases (area under the ROC curve 0.95). The PEER median was 0.74 for oncocytomas and 0.37 for chromophobe renal cell carcinoma. The PEER values significantly differed while comparing oncocytomas and chromophobe renal cell carcinoma in the nephrographic and excretory phases. CONCLUSIONS: Preoperative contrast-enhanced CT ALAD and PEER values both significantly differentiate between chromophobe renal cell carcinoma and oncocytoma. PEER may be more effective in contrast-enhanced CT scans lacking distinct phases.


Assuntos
Carcinoma de Células Renais/diagnóstico por imagem , Meios de Contraste , Neoplasias Renais/diagnóstico por imagem , Intensificação de Imagem Radiográfica/métodos , Tomografia Computadorizada por Raios X/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Aorta , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
12.
BMC Urol ; 20(1): 124, 2020 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-32807136

RESUMO

BACKGROUND: To examine the association of preoperative Mayo Adhesive Probability (MAP) scores in the donor (MAPd) and non-donor kidneys (MAPnd) with post-donation renal function. METHODS: Three hundred thirty-one patients undergoing hand assisted laparoscopic donor nephrectomy (HALDN) were reviewed. MAPd and MAPnd were obtained. Estimated glomerular filtration rate (eGFR) was recorded preoperatively and at 1 day, 1 month, and 6 months postoperatively. RESULTS: Two hundred females and 131 males were evaluated with median BMI 26.4 kg/m2 (range 17.1-39.6) and median age 45 years (range 19-78). MAPd score was 0 for 231 patients (69.8%) and > 0 for 100 patients (30.2%). MAPnd score was 0 for 234 patients (70.7%) and > 0 for 97 patients (29.3%). The median preoperative eGFR was 86.6 ml/min/1.73m2 (range 48.8-138.4). After adjusting for preoperative eGFR, BMI, ASA score, and kidney sidedness, postoperative eGFR was associated with MAP score in the non-donated kidney (p = 0.014) but not in the donated kidney (p = 0.24). Compared to donors with MAPnd = 0, donors with a MAPnd > 0, mean eGFR was - 2.33 ml/min/1.73m2 lower at postoperative day 1 (95% CI - 4.24 to - 0.41, p = 0.018), - 3.02 ml/min/1.73m2 lower at 1 month (95% CI - 5.11 to - 0.93, p = 0.005), and - 2.63 ml/min/1.73m2 lower at 6 months postoperatively (95% CI - 5.01 to - 0.26, p = 0.030). CONCLUSIONS: MAP score > 0 in the non-donated kidney is associated with worse renal function in the 6 months following HALDN.


Assuntos
Rim/fisiologia , Laparoscopia , Nefrectomia , Tecido Adiposo/diagnóstico por imagem , Adulto , Idoso , Feminino , Taxa de Filtração Glomerular , Humanos , Rim/diagnóstico por imagem , Testes de Função Renal , Doadores Vivos , Masculino , Pessoa de Meia-Idade , Nefrectomia/métodos , Valor Preditivo dos Testes , Estudos Retrospectivos , Fatores de Tempo , Tomografia Computadorizada por Raios X , Adulto Jovem
13.
Respir Physiol Neurobiol ; 282: 103525, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32805420

RESUMO

Amyotrophic Lateral Sclerosis (ALS) is a devastating neurodegenerative disorder that results in death due to respiratory failure. Many genetic defects are associated with ALS; one such defect is a mutation in the gene encoding optineurin (OPTN). Using an optineurin null mouse (Optn-/-), we sought to characterize the impact of optineurin deficiency on respiratory neurodegeneration. Respiratory function was assessed at 6 and 12 mo of age using whole body plethysmography at baseline during normoxia (FiO2: 0.21; N2 balance) and during a respiratory challenge with hypoxia and hypercapnia (FiCO2: 0.07, FiO2: 0.10; N2 balance). Histological analyses to assess motor neuron viability and respiratory nerve integrity were performed in the medulla, cervical spinal cord, hypoglossal nerve, and phrenic nerve. Minute ventilation, peak inspiratory flow, and peak expiratory flow are significantly reduced during a respiratory challenge in 6 mo Optn-/-mice. By 12 mo, tidal volume is also significantly reduced in Optn-/- mice. Furthermore, 12mo Optn-/- mice exhibit hypoglossal motor neuron loss, phrenic and hypoglossal dysmyelination, and accumulated mitochondria in the hypoglossal nerve axons. Overall, these data indicate that Optn-/- mice display neurodegenerative respiratory dysfunction and are a useful model to study the impact of novel therapies on respiratory function for optineurin-deficient ALS patients.


Assuntos
Esclerose Lateral Amiotrófica , Proteínas de Ciclo Celular/deficiência , Nervo Hipoglosso/patologia , Proteínas de Membrana Transportadoras/deficiência , Mitofagia/fisiologia , Neurônios Motores/patologia , Degeneração Neural/patologia , Nervo Frênico/patologia , Insuficiência Respiratória , Esclerose Lateral Amiotrófica/complicações , Esclerose Lateral Amiotrófica/genética , Esclerose Lateral Amiotrófica/patologia , Esclerose Lateral Amiotrófica/fisiopatologia , Animais , Modelos Animais de Doenças , Camundongos , Camundongos Endogâmicos C57BL , Insuficiência Respiratória/etiologia , Insuficiência Respiratória/genética , Insuficiência Respiratória/patologia , Insuficiência Respiratória/fisiopatologia
14.
Urology ; 144: 136-141, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32619599

RESUMO

OBJECTIVES: To evaluate the learning curve of robotic-assisted partial nephrectomy as it pertains to operative time (OT) and advanced perioperative variables such as achievement of trifecta, postoperative complications, 30-day readmission rates (RR), warm ischemia time (WIT), and functional volume loss (FVL). METHODS: We evaluated 418 consecutive robotic-assisted partial nephrectomy performed by a single surgeon between February 2008 and April 2019. Multivariable log-log regression models were used to evaluate the associations between case number and continuous outcomes (OT, WIT, and FVL). Multivariable logistic regression models were used to evaluate the association of case number with dichotomous outcomes (trifecta, postoperative complications, RR). RESULTS: Among the 406 eligible patients included in the study, 252 (62.1%) were male, median age was 63 years (range, 22-84), and median body mass index was 29 kg/m2 (interquartile range 26-33). Surgeon experience was associated with shorter OT (-2.5% per 50% increase in case number; 95% confidence interval; P <.001) and plateaus around 77 cases performed. There was slight improvement with trifecta (odds ratio [per 50% increase in cases] = 1.08; 95% confidence interval) and the plateau was also at 77 cases, however, this was not statistically significant (P = .086). We did not find statistically significant associations of surgeon experience with FVL (P = .77), postoperative complications (P = .74), WIT (P = .73), or 30-day RR (P = .33). CONCLUSION: There does not appear to be a relationship between surgical experience and grade 3 or higher postoperative complications, 30-day RR, WIT, or FVL. Trifecta outcomes and maximum OT performance appear to be optimized at approximately 77 cases.


Assuntos
Neoplasias Renais/cirurgia , Curva de Aprendizado , Nefrectomia/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Procedimentos Cirúrgicos Robóticos/efeitos adversos , Idoso , Competência Clínica/estatística & dados numéricos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nefrectomia/educação , Nefrectomia/métodos , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Procedimentos Cirúrgicos Robóticos/educação , Procedimentos Cirúrgicos Robóticos/métodos , Cirurgiões/educação , Cirurgiões/estatística & dados numéricos , Resultado do Tratamento , Urologistas/educação , Urologistas/estatística & dados numéricos , Isquemia Quente/efeitos adversos
15.
Sci Rep ; 10(1): 8967, 2020 06 02.
Artigo em Inglês | MEDLINE | ID: mdl-32488044

RESUMO

Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease caused by deleterious mutations in the DMD gene which encodes the dystrophin protein. Skeletal muscle weakness and eventual muscle degradation due to loss of dystrophin are well-documented pathological hallmarks of DMD. In contrast, the neuropathology of this disease remains understudied despite the emerging evidence of neurological abnormalities induced by dystrophin loss. Using quantitative morphological analysis of nerve sections, we characterize axonopathies in the phrenic and hypoglossal (XII) nerves of mdx mice. We observe dysfunction in these nerves - which innervate the diaphragm and genioglossus respectively - that we propose contributes to respiratory failure, the most common cause of death in DMD. These observations highlight the importance in the further characterization of the neuropathology of DMD. Additionally, these observations underscore the necessity in correcting both the nervous system pathology in addition to skeletal muscle deficits to ameliorate this disease.


Assuntos
Axônios/patologia , Distrofina/genética , Mutação com Perda de Função , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/patologia , Animais , Diafragma/inervação , Modelos Animais de Doenças , Nervo Hipoglosso/patologia , Nervo Hipoglosso/fisiopatologia , Camundongos Endogâmicos mdx , Distrofia Muscular de Duchenne/complicações , Nervo Frênico/patologia , Nervo Frênico/fisiopatologia , Insuficiência Respiratória/etiologia
16.
Int J Mol Sci ; 21(6)2020 Mar 24.
Artigo em Inglês | MEDLINE | ID: mdl-32214050

RESUMO

Pompe disease is a glycogen storage disease caused by a deficiency in acid α-glucosidase (GAA), a hydrolase necessary for the degradation of lysosomal glycogen. This deficiency in GAA results in muscle and neuronal glycogen accumulation, which causes respiratory insufficiency. Pompe disease mouse models provide a means of assessing respiratory pathology and are important for pre-clinical studies of novel therapies that aim to treat respiratory dysfunction and improve quality of life. This review aims to compile and summarize existing manuscripts that characterize the respiratory phenotype of Pompe mouse models. Manuscripts included in this review were selected utilizing specific search terms and exclusion criteria. Analysis of these findings demonstrate that Pompe disease mouse models have respiratory physiological defects as well as pathologies in the diaphragm, tongue, higher-order respiratory control centers, phrenic and hypoglossal motor nuclei, phrenic and hypoglossal nerves, neuromuscular junctions, and airway smooth muscle. Overall, the culmination of these pathologies contributes to severe respiratory dysfunction, underscoring the importance of characterizing the respiratory phenotype while developing effective therapies for patients.


Assuntos
Modelos Animais de Doenças , Doença de Depósito de Glicogênio Tipo II/genética , Fenótipo , Respiração , Animais , Doença de Depósito de Glicogênio Tipo II/patologia , Doença de Depósito de Glicogênio Tipo II/fisiopatologia , Camundongos
17.
J Robot Surg ; 14(1): 185-190, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30993524

RESUMO

To prospectively evaluate factors that predict achievement of trifecta and pentafecta following robotic-assisted partial nephrectomy (RAPN). Clinical variables of 330 RAPNs performed for a single renal tumor were analyzed for association with post-operative trifecta and pentafecta achievement. Trifecta was defined as warm ischemia time (WIT) ≤ 25 min, negative surgical margins, and no post-operative complications ≥ Clavien grade 3. Pentafecta was defined as trifecta criteria plus > 90% preservation of estimated glomerular filtration rate (eGFR) and no stage upgrade of chronic kidney disease from pre-operative up to 12 months post-RAPN. After adjustment for multiple testing, p < 0.007 was considered statistically significant. Among 330 patients, trifecta was achieved in 280 patients (84.8%). Among the 152 patients with eGFR available at 12 months following RAPN, pentafecta was achieved in 39 (25.8%). A lower R.E.N.A.L. score was associated with increased odds of achieving trifecta (OR 3.38, p < 0.001) and pentafecta (OR 2.83 p < 0.001). No other pre-operative characteristics were associated with trifecta or pentafecta. Patients who achieved trifecta had a lower median estimated blood loss (EBL) (300 vs 400, p = 0.029) and shorter operative time (223 vs 234 min, p = 0.004) compared to patients without trifecta. There were no significant differences in EBL or operative time in patients who achieved or failed to achieve pentafecta. R.E.N.A.L score is the only pre-operative variable associated with achieving trifecta and pentafecta following RAPN. Lower EBL and operative time are associated with trifecta but not pentafecta outcomes.


Assuntos
Nefrectomia/métodos , Procedimentos Cirúrgicos Robóticos/métodos , Humanos , Neoplasias Renais/cirurgia , Estudos Prospectivos , Resultado do Tratamento
18.
Int J Med Robot ; 16(1): e2069, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31875349

RESUMO

BACKGROUND: Renal tumor scoring systems, such as the contact surface area value, aim to assist in predicting outcomes following robotic-assisted partial nephrectomy. The aim of this study is to identify associations between specific postoperative outcomes and the contact surface area of renal masses. METHODS: We analyzed 332 consecutive robotic-assisted partial nephrectomies and calculated contact surface area for renal tumors with the contact surface area formula (CSA = 2πrd), where π ≈ 3.14, r = greatest tumor radius (cm), and d = greatest tumor depth (cm). RESULTS: Higher contact surface area was associated with longer warm ischemia time (P < .001), higher estimated blood loss (P < .001), and longer length of hospital stay (LOS) (P < .001). Higher contact surface area was significantly associated with decreased renal function at 1 day, 1 month, and 6 months following robotic-assisted partial nephrectomy. CONCLUSIONS: Contact surface area is associated with certain outcomes following robotic-assisted partial nephrectomy and may be a useful predictive tool.


Assuntos
Neoplasias Renais/cirurgia , Nefrectomia/métodos , Procedimentos Cirúrgicos Robóticos/métodos , Idoso , Feminino , Taxa de Filtração Glomerular , Humanos , Neoplasias Renais/patologia , Neoplasias Renais/fisiopatologia , Tempo de Internação , Masculino , Pessoa de Meia-Idade
19.
Scand J Urol ; 53(5): 344-349, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31549563

RESUMO

Objective: Diagnostic work-up of suspicious renal masses has traditionally been conducted with contrast-enhanced computed tomography (CECT) and/or magnetic resonance imaging (MRI). However, patients who are not candidates for intravenous contrast due to allergy, renal insufficiency, or those on dialysis are discouraged from utilizing traditional contrast imaging due to risks of anaphylaxis, nephrotoxicity, or further kidney damage. We evaluated contrast-enhanced ultrasound (CEUS) in patients on dialysis who would benefit from alternative imaging options to CECT or MRI.Methods: Following IRB approval, nine renal masses from eight patients (aged 54-74 years) with chronic renal insufficiency were evaluated with CEUS and shown to be enhancing after the intravenous administration of ultrasound contrast agent. The ultrasound contrast agent Lumason (Sulfur hexafluoride lipid type-A microspheres, Bracco Diagnostics, Monroe Township, NJ, USA) was utilized. Enhancement was considered present when microbubble contrast agent was visualized within the lesion of interest.Results: Nine CEUS enhancing masses were pathologically examined following laparoscopic radical nephrectomy. Eight of the nine lesions were renal cell carcinoma (two clear cell, four papillary, two cystic). One resected mass was an unspecified benign renal lesion.Conclusions: In this sample of surgically resected tumors, CEUS was effective in characterizing renal lesions as solid neoplasms or complex cystic lesions suspicious for neoplasm-findings which merit further investigation.


Assuntos
Carcinoma de Células Renais/diagnóstico por imagem , Carcinoma de Células Renais/cirurgia , Meios de Contraste , Falência Renal Crônica/terapia , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/cirurgia , Diálise Renal , Hexafluoreto de Enxofre , Idoso , Carcinoma de Células Renais/complicações , Humanos , Falência Renal Crônica/complicações , Neoplasias Renais/complicações , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Ultrassonografia/métodos
20.
Integr Comp Biol ; 59(4): 751-764, 2019 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-31268144

RESUMO

Sponges perceive and respond to a range of stimuli. How they do this is still difficult to pin down despite now having transcriptomes and genomes of an array of species. Here we evaluate the current understanding of sponge behavior and present new observations on sponge activity in situ. We also explore biosynthesis pathways available to sponges from data in genomes/transcriptomes of sponges and other non-bilaterians with a focus on exploring the role of chemical signaling pathways mediating sponge behavior and how such chemical signal pathways may have evolved. Sponge larvae respond to light but opsins are not used, nor is there a common photoreceptor molecule or mechanism used across sponge groups. Other cues are gravity and chemicals. In situ recordings of behavior show that both shallow and deep-water sponges move a lot over minutes and hours, and correlation of behavior with temperature, pressure, oxygen, and water movement suggests that at least one sponge responds to changes in atmospheric pressure. The sensors for these cues as far as we know are individual cells and, except in the case of electrical signaling in Hexactinellida, these most likely act as independent effectors, generating a whole-body reaction by the global reach of the stimulus to all parts of the animal. We found no evidence for use of conventional neurotransmitters such as serotonin and dopamine. Intriguingly, some chemicals synthesized by symbiont microbes could mean other more complex signaling occurs, but how that interplay might happen is not understood. Our review suggests chemical signaling pathways found in sponges do not reflect loss of a more complex set.


Assuntos
Genoma , Movimento/fisiologia , Poríferos/fisiologia , Transcriptoma , Animais , Poríferos/genética , Transdução de Sinais
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