Invasive High-grade Upper Tract Urothelial Carcinoma in a 14-Year-Old Girl

We present an unusual pediatric case of invasive upper tract urothelial carcinoma with an associated genetic predisposition. A 14-year-old female presented with intermittent right flank pain, and was found to have a poorly functioning hydronephrotic right kidney. Laparoscopic nephrectomy was performed. Pathology demonstrated upper tract urothelial carcinoma, and she subsequently underwent completion ureterectomy. Genetic studies demonstrated a double-hit constitutional deletion of a DNA mismatch repair protein, revealing a rare Lynch syndrome variant known as Constitutional Mismatch Repair Deficiency Syndrome.
Source: Urology - Category: Urology & Nephrology Authors: Tags: Pediatric Case Reports Source Type: research

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In this study, we performed immunohistochemistry (IHC) assay. The results show that RASSF6 is upregulated in ESCC and that the elevated expression level of RASSF6 is associated with lymph node metastasis and poor survival of ESCC patients. Consistent with the clinical observations, the upregulation of RASSF6 greatly promotes ESCC cell proliferation, migration and invasion as well as the cell cycle transition to G1/S phase in vitro. According to models in vivo, the downregulation of RASSF6 considerably inhibits ESCC tumor growth and lung metastasis. Mechanistically, RASSF6 negatively regulates the tumor suppressor tripartit...
Source: Journal of Genetics and Genomics - Category: Genetics & Stem Cells Source Type: research
Abstract Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer type globally and contributes significantly to burden of disease in South Asia. In Pakistan, HNSCC is among the most commonly diagnosed cancer in males and females. The increasing regional burden of HNSCC along with a unique set of risk factors merited a deeper investigation of the disease at the genomic level. Whole exome sequencing of HNSCC samples and matched normal genomic DNA analysis (n=7) was performed. Significant somatic single nucleotide variants (SNVs) were identified and pathway analysis performed to determine frequently affe...
Source: Genetics and Molecular Biology - Category: Genetics & Stem Cells Source Type: research
Publication date: November 2019Source: International Journal of Industrial Ergonomics, Volume 74Author(s): Trond Kongsvik, Øyvind Dahl, Ingunn Marie Holmen, Trine ThorvaldsenAbstractFew studies have explored the potential connection between safety climate and health issues. However, some recent research findings indicate that a poor safety climate can be considered a stressor that may be associated with physical symptoms and musculoskeletal complaints. This link is further explored in the present study on the basis of a questionnaire study of 446 sharp-end workers in the Norwegian aquaculture industry. The analysis ...
Source: International Journal of Industrial Ergonomics - Category: Occupational Health Source Type: research
Publication date: November 2019Source: European Urology Supplements, Volume 18, Issue 10Author(s): Z.U. Rehman
Source: European Urology Supplements - Category: Urology & Nephrology Source Type: research
Publication date: November 2019Source: European Urology Supplements, Volume 18, Issue 10Author(s): X. Yu, G. Fan
Source: European Urology Supplements - Category: Urology & Nephrology Source Type: research
ConclusionsA policy of selective histopathology after cholecystectomy is oncologically safe and reduces costs.
Source: European Journal of Surgical Oncology (EJSO) - Category: Surgery Source Type: research
Conclusions Surgical repair with muscle flap coverage, with or without ligation of profunda femoris artery, does not affect prognosis. An alternative method for identifying healthy segments of femoral artery may be frozen section and examination of the artery to decrease the risk of recurrence at the site of anastomosis.RESUMO Contexto A doen ça de Behçet (DB) é uma enfermidade autoimune que envolve múltiplos sistemas. A manifestação arterial mais comum em pacientes com DB é o pseudoaneurisma, que tem uma frequência mais alta do que a formação de aneurism...
Source: Jornal Vascular Brasileiro - Category: Surgery Source Type: research
Resumo A s índrome da congestão pélvica (SCP) é definida como dor pélvica crônica há mais de 6 meses associada a varizes perineais ou vulvares, resultantes do refluxo ou obstrução das veias gonadais, glúteas ou periuterinas. A SCP é responsável por 16-31% dos casos de dor pélvica crônica, sendo d iagnosticada sobretudo na terceira e quarta décadas de vida. Nos últimos anos, houve um interesse maior nessa patologia por parte dos cirurgiões vasculares devido à sua associação com insufici&e...
Source: Jornal Vascular Brasileiro - Category: Surgery Source Type: research
Introduction Exercise therapy (ET) is advocated as a treatment for chronic nonspecific low back pain (CNSLBP). However, therapy effect sizes remain low. In other chronic disorders, training at higher intensity has resulted in greater improvements on both general health related and disease specific outcomes compared to lower-intensity ET. Possibly, high-intensity training also improves effect sizes in CNSLBP. Objective To compare the effects of a high-intensity ET program with a similar moderate-intensity ET program on disability, pain, function, exercise capacity, and abdominal/back muscle strength in persons with CNS...
Source: Medicine and Science in Sports and Exercise - Category: Sports Medicine Tags: CLINICAL SCIENCES Source Type: research
When surgeons cut their prescribing of opioids for pain by more than 50%, their patient-satisfaction scores didn't suffer, a small U.S. study found.Reuters Health Information
Source: Medscape General Surgery Headlines - Category: Surgery Tags: Anesthesiology News Source Type: news
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