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1.
Urology ; 2024 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-38677374

RESUMO

OBJECTIVE: To quantify the incremental downstream revenue generated from subsequent treatment of men who received an inflatable penile prosthesis (IPP) to treat erectile dysfunction (ED), compared to men without ED. METHODS: The 100% Medicare Standard Analytic Files were used to conduct a retrospective claims analysis of the 5-year revenue generated by patients receiving IPP to treat their ED, compared to a propensity-matched cohort of men without ED. Men aged 65 years or older with ED who underwent IPP implantation (Current Procedural Terminology 54405) in a hospital outpatient setting between January 1, 2016 and December 31, 2021, and who had continuous Medicare Parts A and B enrollment for 12 months pre-index IPP and 5 years post-index IPP discharge date were included in the study. Men without ED but with comparable characteristics were identified and used as a comparator group. Revenue received by hospitals from Medicare was defined as the sum of payments for patient services, other payor-paid amounts, patient deductibles, copayments, and coinsurance. Revenue was inflated to 2022 US dollars. The mean values and their corresponding standard deviations (SD) are reported. RESULTS: After matching, there were 2905 men with ED who received an IPP and 7462 men without ED. The IPP cohort showed a significantly higher 5-year cumulative revenue (mean=$34,571 [SD=$50,234]) compared to the men without ED (mean=$3189 [SD=$11,527]). When stratified by diagnosis type, the differences in revenue were $10,258 for circulatory disease, $2646 for diabetes, $2013 for urology, and $1043 for prostate cancer. Significantly more IPP patients had at least 1 health encounter for these conditions over the 5-year follow-up period than their matched controls (55.0% vs 7.8% for circulatory, 46.7% vs 16.8% for urology, 19.3% vs 3.6% for diabetes, and 19.0% vs 3.0% for prostate cancer). CONCLUSION: Men with ED who received IPP generated substantially higher revenue for the healthcare system over a 5-year period, nearly 10 times as much, compared to men without ED, excluding the initial cost of the IPP procedure. The presence of ED, coupled with IPP usage, is associated with significantly increased healthcare revenue across a range of medical conditions compared to men without ED. These findings emphasize the financial implications for advanced ED programs to improve access to necessary care for these patients. Healthcare facilities may leverage these insights to effectively allocate resources to deliver critical healthcare to men with ED.

2.
Cureus ; 14(10): e30265, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36381801

RESUMO

This is a case of a 60-year-old Hispanic male with a history of poorly controlled diabetes who presented to the hospital with a chief complaint of a mass in the penis with mucopurulent discharge and drainage. The patient reported that the mass has been present for one year and had increased in size over the past six months. The patient had the mass biopsied at an outside surgical center one year ago, which was supposedly negative for cancer. On the initial physical examination, there was a large exophytic necrotic mass entirely replacing the penis with complete obliteration of the normal architecture of the glans and phallus with foul, purulent discharge. Significant bilateral palpable inguinal lymphadenopathy was present. A bedside biopsy was performed, which revealed squamous cell carcinoma (SCC). Computed tomography (CT) of the chest, abdomen, and pelvis was ordered for staging and revealed extensive pulmonary and hepatic metastasis, as well as bulky inguinal and retroperitoneal lymph node involvement. Systemic chemotherapy was offered to the patient; however, the patient declined and opted for hospice.

3.
Case Rep Gastroenterol ; 16(1): 1-7, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35221881

RESUMO

Gastric hemangiomas (GHs) are extremely rare vascular lesions of mesodermal origin that may occur in isolation or in conjunction with underlying congenital pathology. Due to the scarcity of these tumors, there is no standardized diagnostic method; however, many have found the combination of endoscopic investigation and radiographic imaging to be most effective, with the presence of phleboliths on computerized tomography as being pathognomonic for GHs. Surgical treatment for symptomatic lesions is curative with no reports of recurrence. We describe a 21-year-old woman who presented with epigastric pain and one episode of 250 mL hematemesis earlier that morning. Under the impression of an upper gastrointestinal bleed due to peptic ulcer disease, esophagogastroduodenoscopy was performed which revealed a 5-cm blood clot-like mass similar in appearance to that of a II-b peptic ulcer, but the presence of a bridging fold led to the suspicion of a possible submucosal tumor. Dynamic computerized tomography scan showed similar findings, and the patient was referred for surgical intervention. Laparoscopic distal gastrectomy was performed with the final diagnosis of cavernous GH made via histological evaluation. The patient was discharged 9 days later with no complications. This case puts emphasis on the importance of considering cavernous GH as a potential cause of severe upper GI bleeding especially in those with atypical demographic profile and history.

4.
BMC Pregnancy Childbirth ; 20(1): 745, 2020 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-33256673

RESUMO

BACKGROUND: Maternal health during pregnancy is a key input in fetal health and child development. This study aims to systematically describe the health behaviors of pregnant women in rural China and identify which subgroups of women are more likely to engage in unhealthy behaviors during pregnancy. METHODS: We surveyed 1088 pregnant women in rural northwestern China on exposure to unhealthy substances, nutritional behaviors, the timing and frequency of antenatal care, and demographic characteristics. RESULTS: Pregnant women were active in seeking antenatal care and had low rates of alcohol consumption (5.1%), exposure to toxins (4.8%), and exposure to radiation (2.9%). However, tobacco exposure was widespread (40.3%), as was low dietary diversity (61.8%), unhealthy weight gain (59.7%), unhealthy pre-pregnancy BMI (29.7%), and no folic acid intake (17.1%). Maternal education is closely linked to better health behaviors, whereas experience with a previous pregnancy is not. CONCLUSIONS: Tobacco exposure and unhealthy nutritional behaviors are common among pregnant women in rural northwestern China. The findings indicate that in the absence of professional health information, relying on experience of previous pregnancies alone may not help rural women avoid unhealthy maternal behaviors. Maternal health education campaigns targeting nutrition and tobacco exposure during pregnancy may improve maternal, fetal, and child health in rural China.


Assuntos
Comportamentos Relacionados com a Saúde , Gestantes , Cuidado Pré-Natal/estatística & dados numéricos , Estudos Transversais , Feminino , Idade Gestacional , Ganho de Peso na Gestação , Humanos , Estado Nutricional , Gravidez , População Rural/estatística & dados numéricos , Inquéritos e Questionários , Poluição por Fumaça de Tabaco/estatística & dados numéricos
6.
J Urol ; 204(2): 231-238, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32125227

RESUMO

PURPOSE: Patients with kidney cancer are at risk for chronic kidney disease after radical and partial nephrectomy. We determined if the urine albumin-to-creatinine ratio is independently associated with progressive chronic kidney disease after nephrectomy. MATERIALS AND METHODS: We performed a cohort study based within a large, integrated health care system. We identified patients who underwent radical or partial nephrectomy from 2004 to 2014 with urine albumin-to-creatinine ratio measured in the 12 months before surgery. We fit multivariable models to determine if the urine albumin-to-creatinine ratio was associated with the time to chronic kidney disease progression (defined as reaching stage 4 or 5 chronic kidney disease, estimated glomerular filtration rate less than 30 ml/minute/1.73 m2). We performed a parallel analysis measuring the time to stage 3b, 4 or 5 chronic kidney disease (estimated glomerular filtration rate less than 45 ml/minute/1.73 m2) among patients with normal or near normal preoperative kidney function (estimated glomerular filtration rate 60 ml/minute/1.73 m2 or greater). We also examined the association between urine albumin-to-creatinine ratio and survival. RESULTS: A total of 1,930 patients underwent radical or partial nephrectomy and had preoperative urine albumin-to-creatinine ratio and preoperative and postoperative estimated glomerular filtration rate. Of these patients 658 (34%) and 157 (8%) had moderate (urine albumin-to-creatinine ratio 30 to 300 mg/gm) or severe albuminuria (urine albumin-to-creatinine ratio greater than 300 mg/gm), respectively. Albuminuria severity was independently associated with progressive chronic kidney disease after radical (moderate albuminuria HR 1.7, 95% CI 1.4-2.2; severe albuminuria HR 2.3, 95% CI 1.7-3.1) and partial nephrectomy (moderate albuminuria HR 1.8, 95% CI 1.2-2.7; severe albuminuria HR 4.3, 95% CI 2.7-7.0). Albuminuria was also associated with survival following radical and partial nephrectomy. CONCLUSIONS: In patients undergoing radical or partial nephrectomy the severity of albuminuria can stratify risk of progressive chronic kidney disease.


Assuntos
Albuminúria/urina , Creatinina/urina , Rim/fisiopatologia , Nefrectomia , Complicações Pós-Operatórias/urina , Insuficiência Renal Crônica/urina , Idoso , Estudos de Coortes , Progressão da Doença , Feminino , Taxa de Filtração Glomerular , Humanos , Masculino , Pessoa de Meia-Idade , Nefrectomia/métodos , Período Pós-Operatório , Período Pré-Operatório
7.
Neurourol Urodyn ; 38(6): 1783-1791, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31215706

RESUMO

AIMS: Sacral neuromodulation (SNM) is a standard therapy for refractory overactive bladder (OAB). Traditionally, SNM placement involves placement of an S3 lead with 1-3 weeks of testing before considering a permanent implant. Given the potential risk of bacterial contamination during testing and high success rates published by some experts, we compared the costs of traditional 2-stage against single-stage SNM placement for OAB. METHODS: We performed a cost minimization analysis using published data on 2-stage SNM success rates, SNM infection rates, and direct reimbursements from Medicare for 2017. We compared the costs associated with a 2-stage vs single-stage approach. We performed sensitivity analyses of the primary variables listed above to assess where threshold values occurred and used separate models for freestanding ambulatory surgery centers (ASC) and outpatient hospital departments (OHD). RESULTS: Based on published literature, our base case assumed a 69% SNM success rate, a 5% 2-stage approach infection rate, a 1.7% single-stage approach infection rate, and removal of 50% of non-working single-stage SNMs. In both ASC ($17 613 vs $18 194) and OHD ($19 832 vs $21 181) settings, single-stage SNM placement was less costly than 2-stage placement. The minimum SNM success rates to achieve savings with a single-stage approach occur at 65.4% and 61.3% for ASC and OHD, respectively. CONCLUSIONS: Using Medicare reimbursement, single-stage SNM placement is likely to be less costly than 2-stage placement for most practitioners. The savings are tied to SNM success rates and reimbursement rates, with reduced costs up to $5014 per case in centers of excellence (≥ 90% success).


Assuntos
Terapia por Estimulação Elétrica/economia , Bexiga Urinária Hiperativa/economia , Bexiga Urinária Hiperativa/cirurgia , Procedimentos Cirúrgicos Urológicos/economia , Idoso , Procedimentos Cirúrgicos Ambulatórios/economia , Custos e Análise de Custo , Árvores de Decisões , Terapia por Estimulação Elétrica/métodos , Feminino , Humanos , Infecções/etiologia , Infecções/psicologia , Reembolso de Seguro de Saúde/estatística & dados numéricos , Medicare/estatística & dados numéricos , Pessoa de Meia-Idade , Resultado do Tratamento , Estados Unidos , Procedimentos Cirúrgicos Urológicos/métodos
8.
Can J Urol ; 25(6): 9614-9616, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30553288

RESUMO

While renal angiomyolipomas (AMLs) generally remain small and asymptomatic, larger AMLs are more common in tuberous sclerosis patients. Giant AMLs over 20 cm are a rare entity and little is known about their management. We present a unique case of a 48-year-old woman with tuberous sclerosis and a 39 cm AML arising from a solitary kidney, after undergoing nephrectomy for a prior AML. Giant renal AMLs can occur in patients with tuberous sclerosis and resection should be considered even for large tumors. Renal sparing is often difficult and patients should be counseled about potential need for postoperative hemodialysis.


Assuntos
Angiomiolipoma/patologia , Neoplasias Renais/patologia , Segunda Neoplasia Primária/patologia , Rim Único/complicações , Esclerose Tuberosa/complicações , Angiomiolipoma/complicações , Angiomiolipoma/cirurgia , Feminino , Humanos , Neoplasias Renais/complicações , Neoplasias Renais/cirurgia , Pessoa de Meia-Idade , Segunda Neoplasia Primária/complicações , Segunda Neoplasia Primária/cirurgia , Nefrectomia , Carga Tumoral
9.
Urology ; 117: 86-88, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29656065

RESUMO

OBJECTIVE: To determine whether patients with solid organ transplant (SOT) are at higher risk of developing complications after inflatable penile prosthesis (IPP) implantation. METHODS: We retrospectively reviewed outcomes data for all patients with SOT who underwent IPP placement at our institution. A cohort of age-matched IPP recipients without SOT were used as controls. RESULTS: We identified 26 patients who underwent SOT and IPP between 1999 and 2015, and 26 controls. Transplants included heart (3), liver (2), kidney only (17), and kidney and pancreas (4). Mean follow-up time after IPP placement was 29.5 months (SOT group) and 13.5 months (controls). Age at IPP did not significantly differ between groups (53.7 + 8.1 vs 56.4 + 9.0, P = .26), nor did body mass index (30.3 + 5.5 vs 30.2 + 4.7, P = .92), history of prostatectomy (7.7% vs 15.4%, P = .39), rectal surgery (3.9% vs 3.9%, P = 1.00), hyperlipidemia (69.2% vs 69.2%, P = 1.00), hypertension (92.3% vs 76.9%, P = .25), or heart disease (57.7% vs 30.8%, P = .093). Peripheral vascular disease was more common in transplant patients (26.9% vs 3.9%, P = .021), as were stroke (19.2% vs 0.0%, P = .05) and diabetes (84.6% vs 53.6%, P = .016). No significant differences in IPP reoperation rates existed between patients with vs without SOT (11.5% vs 11.5%, P = 1.00), nor did they differ by organ transplanted (P = 1.00). No differences in IPP reoperation rate existed between 2-piece vs 3-piece IPP models (P = .47). CONCLUSION: Outcomes of IPP implantation in patients with SOT are similar to those of nontransplant patients. Patients with SOT should be considered suitable candidates for penile prosthesis.


Assuntos
Transplante de Órgãos , Implante Peniano/efeitos adversos , Prótese de Pênis/efeitos adversos , Complicações Pós-Operatórias/etiologia , Idoso , Estudos de Casos e Controles , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Reoperação , Estudos Retrospectivos
10.
Urol Ann ; 10(1): 1-6, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29416267

RESUMO

Penile-sparing modalities are gaining widespread adoption for the management of low-stage penile cancer due to an increasing demonstration of sound oncologic, cosmetic, sexual, psychosocial, and quality of life outcomes. This review aims to provide a comprehensive overview of the respective treatment options in the armamentarium of the practicing urologist in dealing with this rare but problematic condition.

11.
Urol Ann ; 10(1): 7-14, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29416268

RESUMO

Robotic surgery in the treatment in certain urological diseases has become a mainstay. With the increasing use of the robotic platform, some surgeries which were historically performed open have transitioned to a minimally invasive technique. Recently, the robotic approach has become more utilized for ureteral reconstruction. In this article, the authors review the surgical techniques for a number of major ureteral reconstuctive surgeries and briefly discuss the outcomes reported in the literature.

12.
J Endourol ; 32(3): 236-244, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29338314

RESUMO

INTRODUCTION: Intrarenal inflammation has been implicated in the pathogenesis of nephrolithiasis, with prior work showing increased urine levels of IL-6, IL-8, and CCL-2 in stone patients. However, no studies have assessed for inflammation in the renal papillae. We sought to characterize novel papillary tip and urinary biomarkers in stone patients. MATERIALS AND METHODS: Ninety-two patients with nephrolithiasis undergoing percutaneous nephrolithotomy were enrolled. Papillary tip biopsies, kidney urine, and bladder urine were collected, as well as voided urine from eight healthy volunteers. Quantitative polymerase chain reaction was performed to measure inflammatory gene expression. RESULTS: Initial 84-gene polymerase chain reaction array revealed significant elevation of several cytokines in stone patients vs controls (fold change 2.3-694). Twenty-four genes were selected for final analysis. In 41 pairs of urine samples, levels of CCL5, CD40, FasL, RIPK2, SELE, TLR3, and IL-15 were significantly elevated in kidney vs bladder urine (p0.0001-0.04). In 23 triplets of samples, expression of these cytokines plus CCL2, CCL7, CCR2, CSF1, CXCL9, and CXCL10, was significantly greater in papillary tips vs urine samples (p0.001-0.05). Cytokine elevation was independent of maximum postoperative heart rate, respiratory rate, temperature, leukocyte count, urinary tract infection in the past year, presence or absence of antibiotics at the time of surgery, and stone composition (all p > 0.05). CONCLUSION: Expression of CCL-2, CCL-5, CCL-7, CCR-2, CD40, CSF1, CXCL-9, CXCL-10, Fas-L, RIPK2, SELE, and TLR-3 is markedly elevated in the papillary tips, kidney urine, and bladder urine of nephrolithiasis patients. Cytokine elevation was independent of signs of systemic inflammation. These findings further support the role of inflammation in nephrolithiasis and imply that the inflammatory process likely begins at the renal papillae. These may represent novel biomarkers of stone disease, which may be useful in basic nephrolithiasis research, disease diagnosis, and prognosis.


Assuntos
Citocinas/metabolismo , Medula Renal/metabolismo , Nefrolitíase/metabolismo , Adulto , Idoso , Biomarcadores/urina , Biópsia , Estudos de Casos e Controles , Citocinas/urina , Feminino , Humanos , Cálculos Renais/metabolismo , Cálculos Renais/cirurgia , Masculino , Pessoa de Meia-Idade , Nefrolitíase/urina , Nefrolitotomia Percutânea , Prognóstico
13.
Clin Adv Hematol Oncol ; 15(9): 708-715, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28949942

RESUMO

Seminomas account for approximately 50% of all cases of testicular cancer. Testicular cancer is a highly curable disease that can be broadly classified as either seminomatous or nonseminomatous; the management and treatment of the 2 forms vary widely. Although surgery plays a large role in the management of nonseminoma, its role in the management of seminoma is much more limited. Most clinicians in the United States choose orchiectomy followed by surveillance for patients with stage I seminomatous disease, and chemotherapy or radiation-followed by surgery for the management of residual masses-for patients with disease that is stage II and higher. Recently, clinicians have proposed a larger role for surgery in stage II seminoma to avoid the long-term toxic effects of chemotherapy and radiation therapy. In this review, we discuss the oncologic rationale for the treatment of seminoma, the role of surgery, and the use of minimally invasive operative techniques for retroperitoneal lymph node dissection.


Assuntos
Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Orquiectomia/métodos , Seminoma/cirurgia , Neoplasias Testiculares/cirurgia , Humanos , Masculino , Estadiamento de Neoplasias , Seminoma/patologia , Neoplasias Testiculares/patologia
14.
Rev Urol ; 18(1): 51-3, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27162515

RESUMO

Adenomatoid tumors are the most common paratesticular tumor. Although they primarily arise from the epididymis, they can rarely occur as an isolated intratesticular mass. These tumors are benign and surgical excision is curative. We present a case of a 36-year-old man diagnosed with an intratesticular adenomatoid tumor.

15.
J Urol ; 193(2): 565-9, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25150642

RESUMO

PURPOSE: We determined the rate, timing and predictors of venous thromboembolism after open radical cystectomy for urothelial bladder cancer. We also compared the use of warfarin (1971 to 2008) and unfractionated heparin (2008 to 2012) as prophylaxis. MATERIALS AND METHODS: We retrospectively reviewed the records of 2,316 patients who underwent open radical cystectomy and extended pelvic lymph node dissection for urothelial bladder cancer with intent to cure at our institution between 1971 and 2012. The rate and timing of symptomatic venous thromboembolism that developed within 3 months of surgery was calculated in the cohort. Multivariate stepwise logistic regression was used to find significant predictors of symptomatic venous thromboembolism and compare the warfarin based and heparin based prophylaxis protocols. RESULTS: A total of 109 symptomatic venous thromboembolism cases developed for a rate of 4.7%, including 2.1% for deep vein thrombosis and 2.6% for pulmonary embolism. Of these cases 57.8% developed after discharge home at a median of 20 days postoperatively (range 2 to 91). Four significant predictors of venous thromboembolism were identified, including body mass index (p = 0.0015), surgical margins (p = 0.025), diversion type (p = 0.023) and hospitalization duration (p <0.0001). Use of prophylactic heparin vs warfarin was not a significant predictor (p = 0.31). CONCLUSIONS: Venous thromboembolism remains a significant complication of open radical cystectomy. Using an in-house, heparin based anticoagulation protocol consistent with current AUA (American Urological Association) guidelines has not decreased the rate of venous thromboembolism compared to historical warfarin use. On closer evaluation most venous thromboembolism cases in our population occurred after discharge home. Future studies are needed to establish the benefits of extended duration venous thromboembolism prophylaxis regimens that cover the critical post-hospitalization period.


Assuntos
Anticoagulantes/uso terapêutico , Cistectomia/efeitos adversos , Heparina/uso terapêutico , Neoplasias da Bexiga Urinária/cirurgia , Tromboembolia Venosa/etiologia , Tromboembolia Venosa/prevenção & controle , Varfarina/uso terapêutico , Idoso , Cistectomia/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Fatores de Tempo , Tromboembolia Venosa/epidemiologia
16.
Indian J Urol ; 30(3): 333-8, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25097322

RESUMO

OBJECTIVES: The objectives of this review are to summarize the current training modalities and assessment tools used in urological robotic surgery and to propose principles to guide the formation of a comprehensive robotics curriculum. MATERIALS AND METHODS: The PUBMED database was systematically searched for relevant articles and their citations utilized to broaden our search. These articles were reviewed and summarized with a focus on novel developments. RESULTS: A multitude of training modalities including didactic, dry lab, wet lab, and virtual reality have been developed. The use of these modalities can be divided into basic skills-based exercises and more advanced procedure-based exercises. Clinical training has largely followed traditional methods of surgical teaching with the exception of the unique development of tele-mentoring for the da Vinci interface. Tools to assess both real-life and simulator performance have been developed, including adaptions from Fundamentals of Laparoscopic Surgery and Objective Structured Assessment of Technical Skill, and novel tools such as Global Evaluative Assessment of Robotic Skills. CONCLUSIONS: The use of these different entities to create a standardized curriculum for robotic surgery remains elusive. Selection of training modalities and assessment tools should be based upon performance data-based validity and practical feasibility. Comparative assessment of different modalities (cross-modality validity) can help strengthen the development of common skill sets. Constant data collection must occur to guide continuing curriculum improvement.

17.
Bone ; 59: 114-21, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24246249

RESUMO

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder inherited in an autosomal recessive fashion and characterized by hypophosphatemia, short stature, rickets and/or osteomalacia, and secondary absorptive hypercalciuria. HHRH was recently mapped to chromosome 9q34, which contains the gene SLC34A3 which encodes the renal proximal tubular sodium-phosphate cotransporter NaPi-IIc. Here we describe a 29-year-old man with a history of childhood rickets who presented with increased renal phosphate clearance leading to hypophosphatemia, hypercalciuria, low serum parathyroid hormone (PTH), elevated serum 1,25-dihydroxyvitamin D (1,25(OH)2D) and recurrent nephrolithiasis. We performed a mutation analysis of SLC34A3 (exons and adjacent introns) of the proband and his parents to determine if there was a genetic contribution. The proband proved to be compound heterozygous for two missense mutations in SLC34A3: one novel mutation in exon 7 c.571G>C (p.G191R) and one previously identified mutation in exon 13 c.1402C>T (p.R468W). His parents were both asymptomatic heterozygous carriers of one of these two mutations. We also performed an oral phosphate loading test and compared serum phosphate, intact PTH, and intact fibroblast growth factor 23 (iFGF23) in this patient versus patients with other forms of hypophosphatemic rickets, the results of which further revealed that the mechanism of hypophosphatemia in HHRH is independent of FGF23. This is the first report of HHRH in the Chinese population. Our findings of the novel mutation in exon 7 add to the list of more than 20 reported mutations of SLC34A3.


Assuntos
Povo Asiático/genética , Raquitismo Hipofosfatêmico Familiar/complicações , Raquitismo Hipofosfatêmico Familiar/genética , Hipercalciúria/complicações , Hipercalciúria/genética , Mutação/genética , Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc/genética , Adulto , Sequência de Aminoácidos , Sequência de Bases , China , Raquitismo Hipofosfatêmico Familiar/sangue , Raquitismo Hipofosfatêmico Familiar/diagnóstico por imagem , Fator de Crescimento de Fibroblastos 23 , Fatores de Crescimento de Fibroblastos/sangue , Heterozigoto , Humanos , Hipercalciúria/sangue , Hipercalciúria/diagnóstico por imagem , Masculino , Dados de Sequência Molecular , Hormônio Paratireóideo/sangue , Fosfatos/sangue , Radiografia , Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc/química
18.
Biomed Res Int ; 2013: 726581, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23936839

RESUMO

Phosphocitrate (PC) inhibited meniscal calcification and the development of calcium crystal-associated osteoarthritis (OA) in Hartley guinea pigs. However, the mechanisms remain elusive. This study sought to examine the biological activities of PC in the absence of calcium crystals and test the hypothesis that PC is potentially a meniscal protective agent. We found that PC downregulated the expression of many genes classified in cell proliferation, ossification, prostaglandin metabolic process, and wound healing, including bloom syndrome RecQ helicase-like, cell division cycle 7 homolog, cell division cycle 25 homolog C, ankylosis progressive homolog, prostaglandin-endoperoxide synthases-1/cyclooxygenase-1, and plasminogen activator urokinase receptor. In contrast, PC stimulated the expression of many genes classified in fibroblast growth factor receptor signaling pathway, collagen fibril organization, and extracellular structure organization, including fibroblast growth factor 7, collagen type I, alpha 1, and collagen type XI, alpha 1. Consistent with its effect on the expression of genes classified in cell proliferation, collagen fibril organization, and ossification, PC inhibited the proliferation of OA meniscal cells and meniscal cell-mediated calcification while stimulating the production of collagens. These findings indicate that PC is potentially a meniscal-protective agent and a disease-modifying drug for arthritis associated with severe meniscal degeneration.


Assuntos
Citratos/administração & dosagem , Expressão Gênica/efeitos dos fármacos , Meniscos Tibiais/metabolismo , Osteoartrite/tratamento farmacológico , Calcinose/metabolismo , Calcinose/patologia , Cálcio/metabolismo , Proliferação de Células/efeitos dos fármacos , Colágeno/metabolismo , Humanos , Artropatias/metabolismo , Artropatias/patologia , Articulação do Joelho/metabolismo , Meniscos Tibiais/efeitos dos fármacos , Redes e Vias Metabólicas/genética , Osteoartrite/metabolismo , Osteoartrite/patologia , Prostaglandinas/genética , Prostaglandinas/metabolismo , Doenças Vasculares/metabolismo , Doenças Vasculares/patologia
19.
Free Radic Biol Med ; 50(11): 1610-9, 2011 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-21402145

RESUMO

Conventional treatment approaches have had little impact on the course of pancreatic cancer, which has the highest fatality rate among cancers. Gemcitabine, the primary therapeutic agent for pancreatic carcinoma, produces minimal survival benefit as a single agent. Therefore, numerous efforts have focused on gemcitabine combination treatments. Using a ratio design, this study established that combining pharmacologically achievable concentrations of ascorbate with gemcitabine resulted in a synergistic cytotoxic response in eight pancreatic tumor cell lines. Sensitization was evident regardless of inherent gemcitabine resistance and epithelial-mesenchymal phenotype. Our analysis suggested that the promiscuous oxidative actions of H(2)O(2) derived from pharmacologic ascorbate can culminate in synergism independent of the cancer cell's underlying phenotype and resistance to gemcitabine monotherapy. Gemcitabine-ascorbate combinations administered to mice bearing pancreatic tumor xenografts consistently enhanced inhibition of growth compared to gemcitabine alone, produced 50% growth inhibition in a tumor type not responsive to gemcitabine, and demonstrated a gemcitabine dose-sparing effect. These data support the testing of pharmacologic ascorbate in adjunctive treatments for cancers prone to high failure rates with conventional therapeutic regimens, such as pancreatic cancer.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Ácido Ascórbico/administração & dosagem , Carcinoma/tratamento farmacológico , Desoxicitidina/análogos & derivados , Neoplasias Pancreáticas/tratamento farmacológico , Animais , Carcinoma/patologia , Linhagem Celular Tumoral , Desoxicitidina/administração & dosagem , Avaliação Pré-Clínica de Medicamentos , Resistencia a Medicamentos Antineoplásicos/efeitos dos fármacos , Sinergismo Farmacológico , Feminino , Humanos , Camundongos , Camundongos Nus , Neoplasias Pancreáticas/patologia , Ensaios Antitumorais Modelo de Xenoenxerto , Gencitabina
20.
PLoS One ; 5(7): e11414, 2010 Jul 07.
Artigo em Inglês | MEDLINE | ID: mdl-20628650

RESUMO

BACKGROUND: Anecdotal information and case reports suggest that intravenously administered vitamin C is used by Complementary and Alternate Medicine (CAM) practitioners. The scale of such use in the U.S. and associated side effects are unknown. METHODS AND FINDINGS: We surveyed attendees at annual CAM Conferences in 2006 and 2008, and determined sales of intravenous vitamin C by major U.S. manufacturers/distributors. We also queried practitioners for side effects, compiled published cases, and analyzed FDA's Adverse Events Database. Of 199 survey respondents (out of 550), 172 practitioners administered IV vitamin C to 11,233 patients in 2006 and 8876 patients in 2008. Average dose was 28 grams every 4 days, with 22 total treatments per patient. Estimated yearly doses used (as 25 g/50 ml vials) were 318,539 in 2006 and 354,647 in 2008. Manufacturers' yearly sales were 750,000 and 855,000 vials, respectively. Common reasons for treatment included infection, cancer, and fatigue. Of 9,328 patients for whom data is available, 101 had side effects, mostly minor, including lethargy/fatigue in 59 patients, change in mental status in 21 patients and vein irritation/phlebitis in 6 patients. Publications documented serious adverse events, including 2 deaths in patients known to be at risk for IV vitamin C. Due to confounding causes, the FDA Adverse Events Database was uninformative. Total numbers of patients treated in the US with high dose vitamin C cannot be accurately estimated from this study. CONCLUSIONS: High dose IV vitamin C is in unexpectedly wide use by CAM practitioners. Other than the known complications of IV vitamin C in those with renal impairment or glucose 6 phosphate dehydrogenase deficiency, high dose intravenous vitamin C appears to be remarkably safe. Physicians should inquire about IV vitamin C use in patients with cancer, chronic, untreatable, or intractable conditions and be observant of unexpected harm, drug interactions, or benefit.


Assuntos
Ácido Ascórbico/administração & dosagem , Ácido Ascórbico/efeitos adversos , Terapias Complementares/métodos , Ácido Ascórbico/uso terapêutico , Coleta de Dados , Humanos , Injeções Intravenosas , Estados Unidos , United States Food and Drug Administration
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