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1.
Urol Case Rep ; 53: 102655, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38292565

RESUMO

The urachus is an embryologic remnant that connects the bladder to the umbilicus and typically obliterates during gestation. Urachal cysts are one of the most common congenital urachal anomalies. Urachal cysts may be found incidentally on imaging or present as a palpable mass with abdominal pain and fever. We present a case of a young male with a urachal cyst who presented with lower urinary tract symptoms and a falsely elevated post void residual (PVR) volume on bladder scan. This case illustrates an atypical presentation of a large urachal cyst and highlights the limitations of bladder scanner post-void residual determination.

2.
FASEB J ; 38(2): e23408, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-38197270

RESUMO

The androgen receptor (AR) is essential in the development and differentiation of testes and male genitalia. AR expression is tightly regulated at the translational and posttranslational levels. AR posttranscriptional regulation is a major determinant of AR availability since AR is a direct target of E3 ubiquitin ligase STUB1. Our work indicated that the Rac/Cdc42 guanosine triphosphatase guanine nucleotide exchange factor, ß1 Pix, enhanced AR levels after AR stimulation in HEK293 and HeLa cells. AR stimulation decreased AR ubiquitination which is accompanied by increased ß1 Pix binding to AR. Ectopic expression of ß1 Pix decreased AR ubiquitination in Tm4 and HEK293 cells. We demonstrated that the formation of a multimolecular complex comprised of AR/ß1 Pix/STUB1 responded in a time-dependent manner to AR stimulation. ß1 Pix binding dissociated STUB1 from AR and thus prevented STUB1 from catalyzing receptor ubiquitination. ß1 Pix enhanced AR transcriptional activity and increased AR target gene expression. Irrespective of treatment, immunofluorescence analysis showed a strong nuclear colocalization of endogenous AR and endogenous ßPix in Tm4 cells. However, using Tm4 cell fractionation, AR stimulation decreased ßPix/AR association in the cytosolic fraction and increased binding of AR to ßPix in the nuclear fraction. To support the role of ß1 Pix in androgen regulation, we found that individuals lacking this gene have a significant increase in genitourinary malformations associated with androgen dysfunction. Our data indicate that ß1 Pix is an important modulator of AR stability and ligand-dependent AR transcriptional activity. We propose that ß1 Pix could serve as a promising therapeutic target to modulate AR signaling.


Assuntos
Androgênios , Receptores Androgênicos , Ubiquitina-Proteína Ligases , Humanos , Masculino , Diferenciação Celular , Células HEK293 , Células HeLa , Receptores Androgênicos/genética , Ubiquitina-Proteína Ligases/genética
3.
Urology ; 184: e235-e238, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37951364

RESUMO

Polyorchidism, the presence of more than two testes, usually presents as a painless scrotal mass or is diagnosed incidentally during the management of another condition.1 It is a rare congenital abnormality with approximately 200 reported cases in the literature. Most cases are found on the left side within the scrotum. We report a case of right-sided polyorchidism in a 9-year-old patient found incidentally during inguinal orchiopexy. As there is debate on the management of polyorchidism, a careful approach is required as the surgeon must decide between either scrotal fixation or the removal of the supernumerary testis. This case report will discuss the anatomical and clinical considerations when making this decision.


Assuntos
Orquidopexia , Doenças Testiculares , Masculino , Humanos , Criança , Doenças Testiculares/cirurgia , Escroto/cirurgia , Técnicas Histológicas
4.
J Pediatr Urol ; 20(1): 75.e1-75.e8, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37802719

RESUMO

INTRODUCTION: Persistence of embryonic urachal structures due to a failure of the urachus to involute into the median umbilical ligament is known as a urachal anomaly (UA). UAs may remain asymptomatic or lead to abdominal pain and recurrent infections. Management of UAs in pediatric patients has historically lacked a clear consensus between conservative and surgical management. While both urologists and general surgeons manage this pathology, a comparison of management style and outcomes between these specialties has not been published to our knowledge. OBJECTIVE: To (1) evaluate trends in management of UAs among pediatric urologists and general surgeons across three tertiary care children's hospitals and (2) identify factors that place patients at higher risk for requiring surgery. STUDY DESIGN: All patients diagnosed with a UA from 2016 to 2020 at our multi-site institution were identified by ICD-10 code Q64.4 "malformation of the urachus" and retrospectively reviewed. Patient demographics, treatment specialty, remnant subtype, and management strategy were recorded. Data was dichotomized between both urology and general surgery as well as between surgical and nonsurgical intervention to identify and compare management strategies. RESULTS: Overall, 143 patients diagnosed with UAs were identified. Of these patients, 74 were treated by urology and 69 were treated by general surgery. Patients who were treated by urology were significantly more likely to receive conservative treatment (66.2% treated conservatively vs. 33.8% treated surgically), while patients treated by general surgery were significantly more likely to undergo surgery (84.1% treated surgically vs. 15.9% treated conservatively, p < .0001). Though, urology was more likely to treat patients who presented incidentally (p < .01), and general surgery was more likely to treat patients who presented with an infected remnant (p < .01). Patients of male sex were more likely overall to receive surgery compared to female patients (p < .01). DISCUSSION: Management of UAs by urologists was more conservative than general surgeons. However, both specialties treat distinctly different patient presentations, with urology managing more incidental remnants and general surgery operating on more emergent, infected urachi. Limitations of the study included its retrospective nature and the insufficient reporting of urachal remnant subtypes and presence of infection among patients. CONCLUSIONS: Management strategies of UAs differ among urology and general surgery, but surgical and conservative treatments are necessary to appropriately treat their distinct patient populations. This study provides valuable insight into current practices of UA management and may help to inform future treatment.


Assuntos
Cisto do Úraco , Úraco , Urologia , Criança , Humanos , Masculino , Feminino , Estudos Retrospectivos , Úraco/cirurgia , Úraco/anormalidades , Tratamento Conservador , Urologistas , Cisto do Úraco/diagnóstico , Cisto do Úraco/cirurgia
5.
Soft Matter ; 19(29): 5502-5512, 2023 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-37434553

RESUMO

Polymer nanocomposites (PNCs) offer a broad range of thermophysical properties that are linked to their compositions. However, it is challenging to establish a universal composition-property relationship in PNCs due to their wide-ranging composition and chemical space. Here, we address this problem and develop a new method to model the composition-microstructure relation of a PNC through an intelligent machine-learning pipeline named nanoNET. The nanoNET is a nanoparticles (NPs) distribution predictor, built upon computer vision and image recognition concepts. It integrates unsupervised deep learning and regression in a fully automated pipeline. We conduct coarse-grained molecular dynamics simulations of PNCs and utilize the data to establish and validate the nanoNET. Within this framework, a random forest regression model predicts the distribution of NPs in a PNC in a latent space. Subsequently, a convolutional neural network-based decoder converts the latent space representation to the actual radial distribution function (RDF) of NPs in the given PNC. The nanoNET predicts NPs distribution in many unknown PNCs very accurately. This method is very generic and can accelerate the design, discovery, and fundamental understanding of composition-microstructure relationships in PNCs and other molecular systems.

6.
Blood ; 142(22): 1871-1878, 2023 11 30.
Artigo em Inglês | MEDLINE | ID: mdl-37494698

RESUMO

Most patients with solitary bone plasmacytomas (SBP) progress to multiple myeloma (MM) after definitive radiation therapy as their primary treatment. Whether the presence of high-risk (HR) cytogenetic abnormalities by fluorescence in situ hybridization (FISH) in the clonal plasma cells, obtained either directly from the diagnostic SBP tissue or the corresponding bone marrow examination at the time of diagnosis, is associated with a shorter time to progression (TTP) to MM is unknown. This study evaluated all patients diagnosed with SBP at the Mayo Clinic from January 2012 to July 2022. The presence of del(17p), t(14;16), t(4;14), or +1q (gain or amplification) by FISH in clonal plasma cells was defined as HR. A total of 114 patients were included in this cohort, and baseline FISH was available for 55 patients (48%), of which 22 were classified as HR (40%). The median TTP to MM for patients with SBP and HR FISH was 8 months (95% confidence interval [CI], 6.3-26) compared with 42 months (95% CI, 25-not reached [NR]) in patients with SBP without HR FISH (P < .001). In a multivariate analysis, only HR FISH was a significant predictor for shorter TTP to MM, independent of minimal marrow involvement and an abnormal serum free light chain ratio at diagnosis. Deletion (17p) and gain 1q abnormalities were the most common FISH abnormalities responsible for the short TTP to MM. Thus, assessing for HR FISH abnormalities in clonal plasma cells derived from either the diagnostic SBP tissue or the staging bone marrow examination of patients with newly diagnosed SBP is feasible and prognostic for a shorter TTP to MM.


Assuntos
Mieloma Múltiplo , Plasmocitoma , Humanos , Plasmocitoma/genética , Hibridização in Situ Fluorescente , Aberrações Cromossômicas , Mieloma Múltiplo/diagnóstico , Mieloma Múltiplo/genética , Prognóstico , Progressão da Doença
7.
Eur J Haematol ; 111(2): 318-321, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37209032

RESUMO

Daratumumab is an anti-CD38 antibody that is increasingly incorporated in induction regimens for treating patients with newly diagnosed multiple myeloma (NDMM). Previous reports have demonstrated a lower yield of hematopoietic stem cells (HSCs) after induction with daratumumab; however, none of them reported a failure to collect an adequate number of HSCs. We describe a case of adequate HSC mobilization failure in a patient who inadvertently received excessive doses of daratumumab and was confirmed by higher-than-expected circulating levels of daratumumab by mass spectrometry. Eventual clearance of circulating daratumumab was associated with the successful mobilization and harvesting of HSCs.


Assuntos
Antineoplásicos , Mieloma Múltiplo , Humanos , ADP-Ribosil Ciclase 1/metabolismo , Antineoplásicos/uso terapêutico , Mieloma Múltiplo/diagnóstico , Mieloma Múltiplo/tratamento farmacológico , Anticorpos Monoclonais/uso terapêutico , Anticorpos Monoclonais/farmacologia , Células-Tronco Hematopoéticas/metabolismo
8.
Urology ; 178: 143-146, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37121356

RESUMO

Intrascrotal neurofibromas are extensive tumors that grow from peripheral nerves within the scrotum and are exceedingly rare among the benign extratesticular tumors. Though the risk is low, potential for malignancy and patient discomfort make diagnosis and surgical evaluation imperative. Pediatric neurofibromas are typically only associated with neurofibromatosis type 1. However, herein, we describe a rare case of a benign, intrascrotal plexiform neurofibroma in a 10-year-old male who lacks any stigmata associated with this genetic disorder. Diagnostic and surgical challenges as well as histopathological findings are discussed.


Assuntos
Neurofibroma Plexiforme , Neurofibroma , Neurofibromatose 1 , Masculino , Humanos , Criança , Neurofibroma Plexiforme/diagnóstico , Neurofibroma Plexiforme/cirurgia , Nervos Periféricos , Escroto/patologia
9.
Int J Surg Case Rep ; 102: 107825, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36473270

RESUMO

INTRODUCTION: Small bowel obstruction (SBO) is recognized as the most common surgical emergency following abdominal procedures. Moreover, a pneumothorax secondary to an SBO is an infrequent phenomenon less commonly reported in recent literature. Clinical presentation includes progressive dyspnea and fatigue. The diagnosis was made with imaging. In this case report, the authors present a rare case of concurrent surgical complications (pneumothorax, SBO, perforation of the stomach, and hiatal hernia). CASE PRESENTATION: A 62 years-old African American patient who presented with severe sudden onset difficulty breathing two days following laparoscopic toupet fundoplication procedure. She was given oxygen via cannula and the underwent chest tube insertion. She was then transferred to different facility under care of a cardio thoracic surgeon. CLINICAL DISCUSSION: Although SBO is most common emergency following an abdominal procedure, pneumothorax is rarely reported. This case report depicts a unique presentation of pneumothorax secondary to SBO and a discussion section conferring complication risk versus benefits of diverse management modalities (surgical or conservative), and a review of recent literature, further aiding healthcare professionals in the diagnosis and management of patients with SBO complications. CONCLUSION: Review of this case and the literature show a rare presentation of secondary pneumothorax following exploratory laparotomy for SBO. Recognizing the clinical signs and even a small suspicion should prompt one to order imaging. Chest X-ray is inexpensive and can rapidly rule out pneumothorax. These complications have high mortality in patients above the age of 60 years, hence, timely management is of utmost importance.

10.
Development ; 149(23)2022 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-36448532

RESUMO

Undescended testis (UDT) affects 6% of male births. Despite surgical correction, some men with unilateral UDT may experience infertility with the contralateral descended testis (CDT) showing no A-dark spermatogonia. To improve our understanding of the etiology of infertility in UDT, we generated a novel murine model of left unilateral UDT. Gubernaculum-specific Wnt4 knockout (KO) mice (Wnt4-cKO) were generated using retinoic acid receptor ß2-cre mice and were found to have a smaller left-unilateral UDT. Wnt4-cKO mice with abdominal UDT had an increase in serum follicle-stimulating hormone and luteinizing hormone and an absence of germ cells in the undescended testicle. Wnt4-cKO mice with inguinal UDT had normal hormonal profiles, and 50% of these mice had no sperm in the left epididymis. Wnt4-cKO mice had fertility defects and produced 52% fewer litters and 78% fewer pups than control mice. Wnt4-cKO testes demonstrated increased expression of estrogen receptor α and SOX9, upregulation of female gonadal genes, and a decrease in male gonadal genes in both CDT and UDT. Several WNT4 variants were identified in boys with UDT. The presence of UDT and fertility defects in Wnt4-cKO mice highlights the crucial role of WNT4 in testicular development.


Assuntos
Criptorquidismo , Infertilidade , Feminino , Masculino , Humanos , Camundongos , Animais , Gubernáculo , Criptorquidismo/genética , Fertilidade/genética , Espermatogônias , Camundongos Knockout , Proteína Wnt4/genética
11.
FASEB J ; 36(11): e22567, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36196997

RESUMO

Despite the high prevalence of hypospadias and cryptorchidism, the genetic basis for these conditions is only beginning to be understood. Using array-comparative-genomic-hybridization (aCGH), potassium-channel-tetramerization-domain-containing-13 (KCTD13) encoded at 16p11.2 was identified as a candidate gene involved in hypospadias, cryptorchidism and other genitourinary (GU) tract anomalies. Copy number variants (CNVs) at 16p11.2 are among the most common syndromic genomic variants identified to date. Many patients with CNVs at this locus exhibit GU and/or neurodevelopmental phenotypes. KCTD13 encodes a substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3-ubiquitin-protein-ligase complex (BCR (BTB-CUL3-RBX1) E3-ubiquitin-protein-ligase complex (B-cell receptor (BCR) [BTB (the BTB domain is a conserved motif involved in protein-protein interactions) Cullin3 complex RING protein Rbx1] E3-ubiqutin-protein-ligase complex), which has essential roles in the regulation of cellular cytoskeleton, migration, proliferation, and neurodevelopment; yet its role in GU development is unknown. The prevalence of KCTD13 CNVs in patients with GU anomalies (2.58%) is significantly elevated when compared with patients without GU anomalies or in the general population (0.10%). KCTD13 is robustly expressed in the developing GU tract. Loss of KCTD13 in cell lines results in significantly decreased levels of nuclear androgen receptor (AR), suggesting that loss of KCTD13 affects AR sub-cellular localization. Kctd13 haploinsufficiency and homozygous deletion in mice cause a significant increase in the incidence of cryptorchidism and micropenis. KCTD13-deficient mice exhibit testicular and penile abnormalities together with significantly reduced levels of nuclear AR and SOX9. In conclusion, gene-dosage changes of murine Kctd13 diminish nuclear AR sub-cellular localization, as well as decrease SOX9 expression levels which likely contribute in part to the abnormal GU tract development in Kctd13 mouse models and in patients with CNVs in KCTD13.


Assuntos
Criptorquidismo , Hipospadia , Complexos Ubiquitina-Proteína Ligase/metabolismo , Androgênios , Animais , Criptorquidismo/genética , Dosagem de Genes , Homozigoto , Humanos , Masculino , Camundongos , Proteínas Nucleares/metabolismo , Potássio , Receptores Androgênicos/genética , Receptores de Antígenos de Linfócitos B/genética , Deleção de Sequência , Ubiquitina-Proteína Ligases/metabolismo , Ubiquitinas/genética , Anormalidades Urogenitais
12.
J Paediatr Child Health ; 57(8): 1215-1221, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34008264

RESUMO

AIM: Bedwetting is a common paediatric condition. #Bedwetting has been established as the official hashtag to structure Twitter discussions about the condition. We analysed online Twitter discussions for #Bedwetting. METHODS: Symplur, a Twitter analytics service was employed to aggregate Twitter activity, users and content including #Bedwetting, between October 2013 and November 2018. Activity was analysed via tweet volume and user adoption. Users were assorted using geographic location, occupation and affiliation data. Content in #Bedwetting Tweets was undertaken by retrieving information about retweets, links, frequently used words and hashtags. RESULTS: A total of 101 412 tweets and 9957 users utilising #Bedwetting were identified. Most tweets were sent with links (93%). The average ± SD number of tweets using #Bedwetting per month increased from 96 ± 87 in 2013 to 2935 ± 1644 in 2015. Tweet volume decreased to 1960 ± 257 in 2016 and subsequently increased to 2901 ± 1110 in 2017. New users increased from 4 in 2013 to 9957 users in 2018. Users tweeted from 69 countries. Advocacy organisations comprised 35% of the top 100 influencers. Common words in #Bedwetting tweets were 'potty', 'best' and 'training'. Popular associated hashtags were #Pottytraining, #Solutions and #Moms. Hyperlinks in #Bedwetting tweets included advocacy, academic and commercial websites. CONCLUSIONS: Our analysis of #Bedwetting highlights that Twitter is frequently used to discuss the condition's diagnosis and management. Various stakeholders in health care are utilising the platform to build awareness about bedwetting. We identified that Twitter is being employed to drive web traffic to other internet websites.


Assuntos
Enurese Noturna , Mídias Sociais , Criança , Humanos
13.
Development ; 148(8)2021 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-33913480

RESUMO

Multiple morphological abnormalities of the sperm flagella (MMAF) are a major cause of asthenoteratozoospermia. We have identified protease serine 50 (PRSS50) as having a crucial role in sperm development, because Prss50-null mice presented with impaired fertility and sperm tail abnormalities. PRSS50 could also be involved in centrosome function because these mice showed a threefold increase in acephalic sperm (head-tail junction defect), sperm with multiple heads (spermatid division defect) and sperm with multiple tails, including novel two conjoined sperm (complete or partial parts of several flagellum on the same plasma membrane). Our data support that, in the testis, as in tumorigenesis, PRSS50 activates NFκB target genes, such as the centromere protein leucine-rich repeats and WD repeat domain-containing protein 1 (LRWD1), which is required for heterochromatin maintenance. Prss50-null testes have increased IκκB, and reduced LRWD1 and histone expression. Low levels of de-repressed histone markers, such as H3K9me3, in the Prss50-null mouse testis may cause increases in post-meiosis proteins, such as AKAP4, affecting sperm formation. We provide important insights into the complex mechanisms of sperm development, the importance of testis proteases in fertility and a novel mechanism for MMAF.


Assuntos
Fertilidade , Serina Proteases/metabolismo , Cauda do Espermatozoide/enzimologia , Testículo/enzimologia , Animais , Astenozoospermia/enzimologia , Astenozoospermia/genética , Heterocromatina/enzimologia , Heterocromatina/genética , Histonas/biossíntese , Quinase I-kappa B/genética , Quinase I-kappa B/metabolismo , Masculino , Camundongos , Camundongos Mutantes , Proteínas dos Microtúbulos/genética , Proteínas dos Microtúbulos/metabolismo , Serina Proteases/deficiência , Cabeça do Espermatozoide/enzimologia
14.
Development ; 148(1)2021 01 13.
Artigo em Inglês | MEDLINE | ID: mdl-33441379

RESUMO

Cryptorchidism is the most common urologic birth defect in men and is a predisposing factor of male infertility and testicular cancer, yet the etiology remains largely unknown. E2F1 microdeletions and microduplications contribute to cryptorchidism, infertility and testicular tumors. Although E2f1 deletion or overexpression in mice causes spermatogenic failure, the mechanism by which E2f1 influences testicular function is unknown. This investigation revealed that E2f1-null mice develop cryptorchidism with severe gubernacular defects and progressive loss of germ cells resulting in infertility and, in rare cases, testicular tumors. It was hypothesized that germ cell depletion resulted from an increase in WNT4 levels. To test this hypothesis, the phenotype of a double-null mouse model lacking both Wnt4 and E2f1 in germ cells was analyzed. Double-null mice are fertile. This finding indicates that germ cell maintenance is dependent on E2f1 repression of Wnt4, supporting a role for Wnt4 in germ cell survival. In the future, modulation of WNT4 expression in men with cryptorchidism and spermatogenic failure due to E2F1 copy number variations may provide a novel approach to improve their spermatogenesis and perhaps their fertility potential after orchidopexy.


Assuntos
Fator de Transcrição E2F1/metabolismo , Espermatogênese , Testículo/metabolismo , Proteína Wnt4/metabolismo , Envelhecimento/patologia , Animais , Animais Recém-Nascidos , Barreira Hematotesticular/patologia , Ciclo Celular/genética , Criptorquidismo/genética , Criptorquidismo/patologia , Fator de Transcrição E2F1/deficiência , Fertilidade , Regulação da Expressão Gênica , Masculino , Camundongos Endogâmicos C57BL , Modelos Biológicos , Transdução de Sinais , Espermatozoides/metabolismo , Testículo/patologia
15.
Andrology ; 8(5): 1243-1255, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32385972

RESUMO

BACKGROUND: Genitourinary anomalies occur in approximately 1% of humans, but in most cases, the cause is unknown. Aristaless-like homeobox 4 (ALX4) is an important homeodomain transcription factor. ALX4 mutations in humans and mouse have been associated with craniofacial defects and genitourinary anomalies such as cryptorchidism and epispadias. OBJECTIVES: To investigate the presence and the functional impact of ALX4 variants in patients with genitourinary defects. MATERIALS AND METHODS: Two separate patient cohorts were analyzed. One includes clinical exome-sequencing (ES) data from 7500 individuals. The other includes 52 ALX4 Sanger-sequenced individuals with bladder exstrophy-epispadias complex (BEEC). Dual luciferase assays were conducted to investigate the functional transcriptional impact of ALX4 variants in HeLa cells and HEK293 cells. RESULTS: A total of 41 distinct ALX4 heterozygous missense variants were identified in the ES cohort with 15 variants present as recurrent in multiple patients. p.G369E and p.L373F were the only two present in individuals with genitourinary defects. A p.L373F heterozygous variant was also identified in one of the 52 individuals in the BEEC cohort. p.L373F and p.G369E were tested in vitro as both are considered damaging by MutationTaster, although only p.G369E was considered damaging by PolyPhen-2. p.L373F did not alter transcriptional activity in HeLa and HEK293 cells. p.G369E caused a significant 3.4- and 1.8-fold decrease in transcriptional activities relative to wild-type ALX4 in HEK293 and HeLa cells, respectively. DISCUSSION AND CONCLUSIONS: Our study supports the idea that transcription factors like ALX4 could influence the normal development of the GU tract in humans as demonstrated in mouse models as ALX4 variant p.G369E (predicted pathogenic by multiple databases) affects ALX4 function in vitro. Variant p.L373F (predicted pathogenic by only MutationTaster) did not affect ALX4 function in vitro. Exon-sequence information and mouse genetics provide important insights into the complex mechanisms driving genitourinary defects allowing the association of transcriptional defects with congenital disorders.


Assuntos
Proteínas de Ligação a DNA/genética , Fatores de Transcrição/genética , Anormalidades Urogenitais/genética , Variação Genética , Células HEK293 , Células HeLa , Humanos
16.
J Pediatr Surg ; 55(11): 2397-2402, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32471759

RESUMO

INTRODUCTION: Pediatric patients with complex colorectal and genitourinary conditions often require coordinated multidisciplinary care; however, this coordinated care can be hard to structure and deliver. The purpose of this paper is to review the development and implementation of a multidisciplinary colorectal and pelvic health program, one year after the program's initiation. METHODS: This is an observational retrospective 1-year study (10/1/2017 to 9/30/2018). In fiscal year (FY) 2018, a multidisciplinary colorectal and pelvic health program was initiated. The program development incorporated bimonthly team meetings, educational conferences, and initiation of three clinics: a complex colorectal and genitourinary reconstruction clinic, a bowel management clinic, and a colonic motility clinic. Conditions treated included complex anorectal and cloacal malformations, Hirschsprung disease, and idiopathic constipation. The fiscal year was selected to provide comparative administrative data after program implementation. RESULTS: During the study period, 121 patients underwent comprehensive collaborative evaluation of which 58 (47%) were new to the institution compared to 12 (19%) new patients in the previous year (p < 0.001). In FY 2018, there were 130 procedures performed and 512 collaborative visits with an average of 47 visits per month. This was a 3.4-fold increase in visits compared to FY2017 (171 visits). Of the new patients, 60% (35/58), traveled a median of 181 miles, representing 33 statewide counties, and 4 states compared to a median of 93 miles in the previous fiscal year (p = 0.004). CONCLUSION: The development of a colorectal and pelvic health program is feasible and requires a collaborative approach, necessitating multiple service lines within an institution. Program creation and implementation can result in rapid institutional clinical growth by filling a local and regional need through coordinated multidisciplinary care. LEVEL OF EVIDENCE: IV.


Assuntos
Constipação Intestinal/terapia , Doença de Hirschsprung/terapia , Criança , Cloaca/patologia , Humanos , Diafragma da Pelve , Desenvolvimento de Programas , Estudos Retrospectivos
17.
J Pediatr Urol ; 16(5): 585.e1-585.e7, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32340880

RESUMO

BACKGROUND: Anterior urethral valves (AUV) and associated anterior urethral diverticula (AUD) are a rare cause of congenital lower urinary tract obstruction. They occur 25-30 times less frequently than posterior urethral valves (PUV) and historically tend to have a less aggressive presentation and outcome. However, due to the low incidence, little is known about management and long-term prognosis. OBJECTIVE: We aim to evaluate the outcomes after AUV valve ablation and compare this group to a previously studied PUV cohort. STUDY DESIGN: In this IRB-approved study, we retrospectively identified all patients from 2002 to 2017 undergoing valve ablation using CPT code 52400. Charts were manually reviewed to identify AUV patients, their presenting symptoms, timing of diagnosis, pre and postnatal imaging findings, age at presentation and valve ablation, creatinine, recurrences, additional surgeries and follow-up. The AUV group was then compared to a previously studied PUV cohort of 104 patients from our institution. RESULTS: Nine AUV patients were identified. Only four (44%) patients were diagnosed prenatally. Three (33%) patients were diagnosed neonatally, one for weak stream/dribbling and two for febrile UTIs. The remaining two patients were diagnosed at ages 3 and 4 due to dysuria and penile swelling with micturition. Patients presenting later in life had no evidence of renal dysfunction or VUR. All patients underwent primary TUR-AUV (1 laser, 4 cold knife, 4 cautery), but 55% had residual valves and/or diverticula identified on routine postoperative imaging in two patients and due to development of clinic symptoms in three patients. All five patients with recurrences underwent repeat endoscopic evaluation, and thereafter two patients required urethral reconstruction. In contrast, only 15% (16/104) of PUV patients required re-TUR (p = 0.01). At an average follow-up time of 4.24 years (range 0.6-11.4 years), 44% of patients had no evidence of CKD, and two patients (22%) had progressed to CKD of at least stage IIIA, compared to 21.4% in the PUV cohort at a mean follow-up of 2.3 years. DISCUSSION: The overall incidence of AUV is low, making it difficult to characterize these patients definitively. However, despite a milder phenotype and later presentation in most AUV patients, they do require more aggressive surgical treatment for complete resolution of the AUV. Furthermore, the long-term renal outcomes appear more severe than previously reported. CONCLUSIONS: The poorer outcomes of AUV patients both with respect to recurrence and long-term CKD indicate that close urologic follow-up is essential in this group.


Assuntos
Divertículo , Doenças Uretrais , Pré-Escolar , Humanos , Lactente , Masculino , Estudos Retrospectivos , Uretra/diagnóstico por imagem , Uretra/cirurgia , Doenças Uretrais/diagnóstico por imagem , Doenças Uretrais/cirurgia , Micção
18.
Can Urol Assoc J ; 14(7): E328-E333, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32017691

RESUMO

INTRODUCTION: We sought to perform a quantitative and qualitative analysis of online Twitter discussion of enuresis using the hashtag #Enuresis. METHODS: Symplur, a fee-based Twitter analytics service, was employed to aggregate and analyze Twitter activity, users, and content for #Enuresis, the official Twitter hashtag for enuresis, between June 2016 and November 2018. Twitter activity was analyzed using average tweets and new users per month. Users were classified based on geographic location, occupation, and organizational affiliation. Content analysis was performed by retrieving information about Twitter engagement metrics, including retweets, links, media, mentions, replies, and frequently used words and hashtags. RESULTS: A total of 3133 tweets and 1555 users utilizing #Enuresis were identified between June 28, 2016 and November 28, 2018. The average ± standard deviation (SD) number of tweets using #Enuresis per month were not significantly different from 2016 through 2018 (p=0.292). The number of users increased from six to 1555 during the study period, but there was no statistically significant increase in number of new users per month (p=0.346). Physicians comprised 14% of the top 100 influencers, followed by medical device organizations (13%). Popular hashtags in #Enuresis tweets were #Bedwetting, #PisEnLaCama, #schoolnurses, #helpingkids, #ninos, and #salud. Hyperlinks used in #Enuresis tweets included advocacy, academic, commercial, and other social media websites. CONCLUSIONS: Our analysis of #Enuresis demonstrates that the online Twitter discussion regarding enuresis is growing. These results indicate that enuresis has a global appeal and has especially gained traction in European countries, as well as in the U.S.

19.
J Pediatr Surg ; 2020 Jan 09.
Artigo em Inglês | MEDLINE | ID: mdl-31955989

RESUMO

PURPOSE: Robot-assisted laparoscopic extravesical ureteral reimplantation has previously been described as a viable minimally invasive option to open surgery. However, concerns for robotic surgery have been raised owing to assumed higher costs and heterogeneous clinical outcomes. We hypothesized that similar hospital charges and clinical outcomes occur when comparing open and robotic cases in matched cohorts. MATERIALS AND METHODS: Open and robotic reimplantation cases from 2013 to 2015 for primary vesicoureteral reflux were matched by age using 1:1 nearest neighbor matching. The matched cohorts were analyzed and compared for their direct itemized hospital charges per surgical case, complications, and clinical outcomes. RESULTS: There were 38 patients in each group after age-matching the 135 patients. Operating room charges were higher for the robotic group compared to the open group (p=0.002), whereas pharmacy and laboratory costs were lower for the robotic group. However, there were no significant differences in total overall charges between the open and robotic groups with cystoscopy or without cystoscopy (p=0.345, p=0.533), since the median hospital stay length was shorter for the robotic group (p<0.001). Clinical success rates were identical for the two groups (open 94.8% vs robotic 94.8%). There were also no significant differences in number of complications between the two cohorts. CONCLUSIONS: This is the first age-matched study comparing hospital charges and clinical outcomes of pediatric open and robotic reimplantation. While operating room charges were higher for the robotic cohort, lower hospitalization charges led to comparable overall hospital charges, as well as equivalent clinical outcomes for both cohorts. LEVEL OF STUDY: Level III (Retrospective comparative study) TYPE OF STUDY: Retrospective Study.

20.
J Pediatr Urol ; 15(5): 480.e1-480.e7, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31495779

RESUMO

INTRODUCTION: Although grayscale and Doppler ultrasound (US) findings of testicular torsion (TT) have previously been described in the literature, other US findings may provide more prognostic information to families. OBJECTIVE: The authors hypothesized that a comprehensive analysis of US findings of TT that focused on time-dependent changes would lead to additional ultrasonographic morphologic findings and clinically relevant prognostic information. STUDY DESIGN: The authors reviewed the records of pediatric patients with acute TT from 2010 to 2017. The sizes and parenchymal characteristics of the torsed and contralateral testes on US were analyzed in relation to the time duration from the onset of scrotal pain to the time of surgery (0-6 h, 6-12 h, 12-24 h, 24-48 h, and >48 h), torsion degree, and clinical outcomes of the testes. RESULTS: Patient demographics, time intervals, and US measurements of the torsed and contralateral testes showed significant differences with respect to testicular viability (Summary Table). The mean volume ratios of torsed to contralateral testis showed significant differences between the 0-6 h and the 12-24 h time groups as well as the 6-12 h and the 12-24 h time groups (P = 0.003 and P = 0.035, respectively), as well as significant differences between the viable and non-viable testes (P = 0.005). Regarding testicular heterogeneity, two novel grayscale sonographic findings were noted: (1) multiple hypoechoic lines that were termed 'testicular fragmentation' and (2) hyperechoic patches that were termed 'testicular patching'. The presence of these two findings were significantly increased as TT time duration increased (P < 0.001), and these findings were significantly associated with testicular non-viability (P < 0.001). Torsion degree was also noted to be significantly higher in the non-viable testes (P < 0.001). Presence of hydrocele or scrotal edema also showed significant differences between the TT time groups (P < 0.001). DISCUSSION: The results of this study demonstrated ultrasonographic findings related to time dependent changes in TT and provided prognostic information regarding testicular viability. CONCLUSIONS: Specific US grayscale findings in torsed testes (testicular fragmentation and testicular patching) were identified that provide prognostic information regarding time duration of testicular torsion and testicular viability. Testicular fragmentation and testicular patching significantly increased as TT time increased, with increasing risk for testicular non-viability.


Assuntos
Torção do Cordão Espermático/diagnóstico , Cordão Espermático/diagnóstico por imagem , Ultrassonografia Doppler em Cores/métodos , Adolescente , Criança , Pré-Escolar , Seguimentos , Humanos , Masculino , Prognóstico , Reprodutibilidade dos Testes , Estudos Retrospectivos
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