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1.
Urology ; 2024 Jun 24.
Artigo em Inglês | MEDLINE | ID: mdl-38925372

RESUMO

OBJECTIVE: To analyze current standards in urethroplasty by urologists employing buccal mucosal grafts (BMG) for treating urethral stricture disease (USD). METHODS: An IRB-approved online survey was distributed to members of the Society of Genitourinary Reconstructive Surgeons (GURS) between July and October 2022 to assess BMG utilization in urethroplasty. Questions covered surgeon experience, graft harvest site, graft length, surgical technique, and perceived success rates. RESULTS: Of 350 invited GURS members, 134 responded (38%). Sixty-nine percentage were GURS fellowship-trained, performing 10-30 urethroplasties annually. Ninety-five percentage harvested their own grafts, with 99% preferring buccal mucosa as the primary site. Buccal mucosa was favored over fasciocutaneous flap for penile urethroplasty, regardless of circumcision status (95% with, 84% without). For bulbar urethroplasty with BMG, dorsal graft placement was favored (66%) over ventral (34%). Most surgeons (90%) preferred multiple BMGs over combined graft/flap for panurethral strictures. When harvesting long grafts, 56% preferred using both cheeks. Anastomotic urethroplasty was preferred over buccal graft urethroplasty for short bulbomembranous stenosis post-radiotherapy (63% vs 37%). Surgeons reported a success rate of 80%-90% (53%). CONCLUSION: The expanded scope of reconstructive urology has led to increased use of BMG in diverse urethral reconstructions. Buccal grafts are now preferred for penile, bulbar, and panurethral strictures, demonstrating high perceived success rates in the reconstructive community.

2.
Cureus ; 15(8): e43485, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37711951

RESUMO

Intracranial hemorrhage (ICH) is a serious complication of hemophilia A with high morbidity and mortality. The management of such cases is complicated by nonspecific and often delayed presentation, increased frequency of rebleeding, low awareness regarding clotting factor replacement, and debate regarding the efficacy of surgical interventions. We report a case of an 18-year-old male patient with hemophilia A, who first presented to the emergency department in India in a comatose state. Neuroimaging revealed subdural hematoma with midline shift and uncal herniation. The patient was successfully managed with perioperative cryoprecipitate and factor VIII replacement, tiered intracranial pressure lowering strategies, and early decompressive craniectomy with clot evacuation. In India, there are no standardized guidelines for screening and routine care for hereditary diseases like hemophilia. In a resource-deficient country, management was complicated by the limited availability of factor VIII in the emergent setting, as well as the inability to obtain serial factor levels in the postoperative period. We hope that this article helps to guide the management of ICH and hemophilia in resource-limited countries.

3.
Case Rep Urol ; 2023: 6021178, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37035839

RESUMO

A 37-year-old male with a history of chronic nephrolithiasis presented to the ED with gross hematuria, clot retention, and right flank pain. The patient had radiological findings of perinephric stranding, marked hydronephrosis, and marked thinning of the right renal parenchyma on computed tomography (CT), all suggestive of xanthogranulomatous pyelonephritis (XGP). The specimen following radical nephrectomy revealed urothelial carcinoma (UC) in a background of XGP but with no evidence of spread to regional lymph nodes. Follow-up imaging revealed hypodense lesions in the liver which demonstrated UC on biopsy. This is the first reported case of a young patient presenting with such an advanced stage of UC in the setting of XGP. It illustrates the link between inflammatory processes of the kidney and malignancy of the upper urinary tract.

4.
Cureus ; 15(2): e34517, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36879700

RESUMO

Sellar, supra-sellar aspergilloma are rare differentials for a sellar mass. CNS aspergilloma occurs due to intracranial extension of invasive fungal sinusitis, and often first manifests with symptoms of headache and visual disturbance. This complication is much more common in immunocompromised patients, but proliferation of fungal pathogens and low index for suspicion has led to more severe breakthrough cases in the immunocompetent. If treated timely, these CNS lesions can have a relatively good prognosis. Conversely, delays in diagnosis can confer very high rates of mortality among patients with invasive fungal disease. Originally from India, in this case report, we describe two patients presenting with sellar, supra-sellar tumors, who eventually were diagnosed with confirmed cases of invasive intracranial aspergilloma. We describe the clinical presentation, imaging techniques, and treatment modalities for this relatively rare disease in both the immunocompromised and the immunocompetent.

5.
Surgery ; 173(6): 1323-1328, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36914510

RESUMO

BACKGROUND: Laparoscopic cholecystectomy is the current standard of care treatment for benign gallbladder disease. Robotic cholecystectomy is another approach for performing cholecystectomy that offers a surgeon better dexterity and visualization. However, robotic cholecystectomy may increase cost without sufficient evidence to suggest an improvement in clinical outcomes. The purpose of this study was to construct a decision tree model to compare cost-effectiveness of laparoscopic cholecystectomy and robotic cholecystectomy. METHODS: Complication rates and effectiveness associated with robotic cholecystectomy and laparoscopic cholecystectomy over a 1-year time frame were compared using a decision tree model populated with data from the published literature. Cost was calculated using Medicare data. Effectiveness was represented by quality-adjusted life-years. The primary outcome of the study was incremental cost-effectiveness ratio, which compares the cost per quality-adjusted life-year of the 2 interventions. The willingness-to-pay threshold was set at $100,000/quality-adjusted life-year. Results were confirmed with 1-way, 2-way, and probabilistic sensitivity analyses varying branch-point probabilities. RESULTS: The studies used in our analysis included 3,498 patients who underwent laparoscopic cholecystectomy, 1,833 patients who underwent robotic cholecystectomy, and 392 patients who required conversion to open cholecystectomy. Laparoscopic cholecystectomy produced 0.9722 quality-adjusted life-years, costing $9,370.06. Robotic cholecystectomy produced an additional 0.0017 quality-adjusted life-years at an additional $3,013.64. These results equate to an incremental cost-effectiveness ratio of $1,795,735.21/quality-adjusted life-year. This exceeds the willingness-to-pay threshold, making laparoscopic cholecystectomy the more cost-effective strategy. Sensitivity analyses did not alter results. CONCLUSION: Traditional laparoscopic cholecystectomy is the more cost-effective treatment modality for benign gallbladder disease. At present, robotic cholecystectomy is not able to improve clinical outcomes enough to justify its added cost.


Assuntos
Doenças da Vesícula Biliar , Procedimentos Cirúrgicos Robóticos , Estados Unidos , Humanos , Idoso , Análise de Custo-Efetividade , Procedimentos Cirúrgicos Robóticos/métodos , Análise Custo-Benefício , Medicare , Colecistectomia , Doenças da Vesícula Biliar/cirurgia
6.
Transl Cancer Res ; 11(9): 3357-3362, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36237247

RESUMO

Background: Bony metastases are often seen in advanced cancers and lead to deterioration in patient quality of life with common complications of pain, bone fractures, and hypercalcemia. While most sites of metastasis to bone are observed in the axial skeleton from patients with a primary lung, breast or prostate cancer, metastases to the calvarium from lung cancer are less common, and thus less likely to be identified and managed. Case Description: A 69-year-old Caucasian female with advanced non-small cell lung cancer (NSCLC) presented with worsening symptoms of widespread body pain, fatigue, and weight loss. Physical examination was remarkable for a palpable protrusion on the patient's head. Imaging revealed a parieto-occipital calvarial lesion, a likely metastasis from her lung cancer. A previously performed CT-guided lung biopsy was evaluated for actionable tumor markers to allow for more specific and efficacious line of treatments; the patient's tumor had lacked any notable gene mutations. The treatment plan included radiotherapy, combined immunotherapy and chemotherapy consisting of pembrolizumab, pemetrexed, and carboplatin. Despite the treatment, the patient's skull lesion had continued to grow, and her overall condition deteriorated to the point where she required hospice. Conclusions: Given the unique location of calvarial metastases, early detection appears to correlate with improving patient outcomes and quality of life. A multimodal approach with a high index of suspicion is essential for diagnosing and managing rare presentations of metastatic disease.

7.
Cureus ; 14(8): e28464, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36176870

RESUMO

Vesicle-associated membrane protein 2 (VAMP2) and Agrin (AGRN) are crucial proteins in neurotransmission. VAMP2 is a vesicular protein that facilitates the exocytosis of neurotransmitters. At the same time, AGRN plays a critical role in the maintenance and function of neuromuscular junctions. Mutations in the signaling pathway of VAMP2 and AGRN impair proper signaling between the presynaptic and postsynaptic neurons, and can result in neurodevelopmental conditions known as global developmental delay (GDD). This study highlights a presentation of GDD in a patient with concurrent mutations in VAMP2 and AGRN. A three-year-old female child presented with GDD characterized by hypotonia, intellectual disability, and dysphagia. Physical exam exhibited signs of developmental delay and severe muscle weakness. EEG findings were suggestive of a hypsarrhythmia pattern. The ophthalmological evaluation showed partial optic atrophy bilaterally. Therapeutic interventions included Keppra and Topamax, which proved ineffective. The patient's outcome was inconclusive as care was transferred to another facility. This case study reports the novel appearance of two concurrent mutations: p.Gln76Pro associated with VAMP2 and p.Gln970Glu associated with AGRN. Mutations in VAMP2 lead to a dysfunctional SNARE complex and inhibit exocytosis of neurotransmitters into the synaptic cleft. Mutations in AGRN impair the ability to form and activate postsynaptic nicotinic acetylcholine receptors. Improper signaling between presynaptic and postsynaptic neurons is an important determinant of GDD. We hope that accounting for this mutational pattern will contribute to understanding synapse assembly and help unravel the complex interplay of factors involved in the pathology of neuromuscular disorders and GDD.

8.
Cureus ; 14(4): e24566, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35664380

RESUMO

Mesoamerican nephropathy (MeN) or chronic kidney disease of unknown origin (CKDu) is a rising epidemic in hotspot regions of El Salvador and Nicaragua. MeN is often defined in patients who exhibit a clinically reduced estimated glomerular filtration rate (eGFR) but lack a defining etiology such as diabetes or hypertension. A multitude of risk factors for MeN have been identified, including physical labor demands in a hot climate, exposure to pesticides, and poverty. Additionally, social determinants such as limited access to health care and the cost of disease burden often contribute to overall poor prognosis and progression of the disease. We present a case of a 39-year-old male with a past medical history of gout who presented to the emergency room with abdominal pain radiating to the flanks and bilateral great toe pain. Social history revealed the patient recently moved to the United States from Central America (Nicaragua), was unemployed, and did not have health insurance. Prior to the presentation, the patient admitted he was not compliant with his gout medications for about one month. The symptoms first began two to three weeks prior to his evaluation in the emergency department; the patient also endorsed decreased oral intake during this time period. He was noted to have abnormally elevated creatinine along with elevated uric acid levels, low potassium and magnesium levels. Abdominal imaging revealed nephrolithiasis without hydronephrosis. Initial differentials included acute kidney injury (AKI) from dehydration, non-steroidal anti-inflammatory drug (NSAID) induced nephropathy, and uric acid nephropathy. This patient was eventually found to have a biopsy-proven findings of CKDu. We want to highlight the need to keep MeN high in the differential with a low threshold to perform a renal biopsy for accurate diagnosis and management of the disease, especially in the rising immigrant population in the United States.

9.
Cureus ; 14(4): e24205, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35592194

RESUMO

Patients diagnosed with autism spectrum disorder (ASD) frequently have a variable presentation and can suffer from underlying conditions, such as Chromosome 15 abnormalities] The broad diagnosis of ASD and its debilitating symptoms can overshadow underlying conditions and delay crucial interventions. This report describes a male child who was diagnosed with ASD at the early age of 19 months. Hallmark symptoms seen in this case included lack of social eye contact, lack of joint attention, hand-flapping, and missed motor milestones. Genetic methylation assay revealed a duplication on maternally derived chromosome 15, indicating concurrent 15q11-q13 duplication syndrome (Dup15q). Screening assessments for ASD are an important step in the initial management of developmental abnormalities. However, early genetic screening can lead to a more accurate diagnosis, personalized treatment, and better quality of life in patients with atypical symptoms caused by undiagnosed comorbid conditions.

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