Intra-scrotal testicular torsion of a classical seminoma in an elderly patient: a case report and literature review.
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ABSTRACT:
SUBMITTER: Alrabeeah K
PROVIDER: S-EPMC5534010 | biostudies-other | 2017 Jul
REPOSITORIES: biostudies-other
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Project description:BackgroundThe incidence of intracardiac masses is generally low. In most cases, the formation of a thrombus represents the principal diagnosis in clinical practice. The differential diagnosis mainly includes primary tumours of the heart as well as intracardiac metastases. Testicular cancer is a rare malignancy, accounting for approximately 1% of all male tumours. Cardiac metastasis of a seminoma is extremely rare.Case summaryA 30-year-old man with a history of a classic seminoma of the right testis was referred to our university hospital from an outside clinic. Transthoracic echocardiography showed a large space-occupying mass in the right ventricle (4.0 cm × 4.5 cm × 5.5 cm) attached to the apex and septum. Cardiac magnetic resonance imaging confirmed the finding of a 5.5 cm × 3.5 cm lesion without freely movable appendage or obstruction of the right ventricular outflow tract. Tissue characterization by T1- and T2-weighted black blood imaging revealed a signal behaviour comparable to pulmonary metastases. Additionally, positron emission tomography (PET) with 250 MBq induced 18-fluorodeoxyglucose (18F-FDG) as part of a re-staging showed significant FDG-uptake. Thus, the final diagnosis of an intracardiac metastasis of the testicular seminoma was made, and the patient was treated with cisplatin, etoposide, and bleomycin chemotherapy according to the current guidelines. A repeat trans-thoracic echocardiogram (TTE) performed 2 weeks later already demonstrated a significant reduction of the metastasis with a diameter of 3.3 cm × 3.0 cm.DiscussionIn the past few years, multimodality imaging has become essential in the diagnostic evaluation of cardiac disease. In order to improve the diagnostic accuracy, a modern approach should preferably contain the integration of different imaging modalities. Cardiac magnetic resonance imaging as well as 18F-FDG-PET/computed tomography helped us reach the aetiological diagnosis of an intracardiac metastasis and to initiate prompt treatment.
| S-EPMC6439369 | biostudies-literature
Project description:BackgroundAcute scrotal pain is a urological emergency. While for testicular torsion and acute epididymitis clinical recommendations are well established, few is known about low incidence causes of acute scrotal pain. Our aim is to identify and characterise rare differential diagnoses of acute scrotal pain in order to give diagnostic and therapeutic recommendations.Materials and methodsA systematic literature search was performed in PubMed, Web of Science and the Cochrane Library databases up to February 2019 according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) statement. The systematic review protocol was registered on PROSPERO (CRD42018099472).ResultsEighty-four publications were selected for analysis. The databases provided mostly case reports, series and small studies, overall reporting on a cohort of 245 cases. Tumors, segmental testicular infarction, testicular vasculitis, pancreatitis, brucellosis, spermatic vein thrombosis, acute aortic syndrome and appendicitis were identified as rare underlying causes of acute scrotal pain and were characterised. As a result of our data analysis we were able to draw an overview of the rare differential diagnoses and diagnostic management of acute scrotal pain.ConclusionRare differential diagnoses of acute scrotal pain are susceptible to misinterpretation as testicular torsion or acute epididymo-orchitis. Surgical management is indicated in case of suspicion for torsion or tumor. We herein present knowledge of the rare differential diagnoses and raise awareness for associated systemic disease in order to facilitate disease management and increase the potential for testicle-sparing treatment.
| S-EPMC7283975 | biostudies-literature
Project description:Testicular rupture after blunt scrotal trauma is characterized by rupture of the tunica albuginea and extrusion of seminiferous tubules. This is a serious injury and appropriate evaluation and management are necessary both for symptom control, but also for preservation of the testicle. Clinical examination of the scrotum following trauma is difficult and may result in incorrect triage of patients for surgical exploration. This case study describes the assessment and management of blunt testicular trauma in an adolescent lacrosse player.
| S-EPMC6942712 | biostudies-literature
Project description:Therapy for early stage testicular seminoma has changed radically over the past several decades. Given high cure rates and clinical trials supporting less active therapy in most cases, close observation after radical orchiectomy is now considered standard of care for clinical stage (CS) IA/IB seminoma, with either radiation therapy (RT) or chemotherapy salvage options possible. For CS IIA/IIB seminoma characterized by non-bulky retroperitoneal lymph node involvement (≤5 cm in greatest dimension), RT or combination chemotherapy are the standard of care. Given high comparable survival rates, preventing treatment-related toxicity and second malignancy, and limiting quality of life deficits associated with intense treatment has gained much greater importance. Clinical trials are currently testing the feasibility of retroperitoneal lymph node dissection (RPLND) for low volume CS IIA/IIB metastatic testicular seminoma to this end. Likewise, one cycle of chemotherapy is being evaluated as an adjuvant approach to reduce recurrence rates in CS I disease with unfavorable risk factors. Moreover, recent genomic and molecular studies have recently identified novel signatures and a potential biomarker for testicular seminoma. In this review, we first summarize the evolution of early stage seminoma management and discuss the effectiveness and drawbacks of contemporary treatment strategies. We further outline future perspectives and potential challenges in management of early stage testicular seminoma.
| S-EPMC6995845 | biostudies-literature
Project description:BackgroundMonosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial features that are absent when the deletion is proximal, beyond the 1p36.32 region. In patients with proximal deletions, little is known about the associated phenotype, since only a few cases have been reported in the literature. Ocular manifestations in patients with classical 1p36 monosomy are frequent and include strabismus, myopia, hypermetropia, and nystagmus. However, as of today only one patient with 1p36 deletion and Duane retraction syndrome (DRS) has been reported.Case presentationWe describe a patient with intellectual disability, facial dysmorphism, and bilateral Duane retraction syndrome (DRS) type 1. Array CGH showed a 7.2 Mb de novo deletion from 1p36.31 to 1p36.21.DiscussionOur patient displayed DRS, which is not part of the classical phenotype and is not a common clinical feature in 1p36 deletion syndrome; we hypothesized that this could be associated with the overlapping deletion between the distal and proximal 1p36 regions. DRS is one of the Congenital Cranial Dysinnervation Disorders, and a genetic basis for the syndrome has been extensively reported. The HES3 gene is located at 1p36.31 and could be associated with oculomotor alterations, including DRS, since this gene is involved in the development of the 3rd cranial nerve and the 6th cranial nerve's nucleus. We propose that oculomotor anomalies, including DRS, could be related to proximal 1p36 deletion, warranting a detailed ophthalmologic evaluation of these patients.
| S-EPMC7487539 | biostudies-literature
Project description:IntroductionA fast surgical treatment is the gold standard when a testicular torsion is diagnosed.However, an early diagnosis of torsion may not be feasible in case of torsion associated with undescended testis in the patients affected by cerebropalsy.Case presentationA Bolivian 16 year old male with acquired cerebropalsy and spastic neuromuscular disease was admitted to our Institute for a right inguinal swelling observed by the father in the morning. Indeed, the father had reported that the swelling had may be started two days before without pain or any other symptoms apparently. Two episodes of vomiting were only reported. At the general examination the patient, apparently, seemed to laugh repeatedly and a spastic movements increase were observed. The child had an infrainguinal bilateral cryptorchidism. An urgent left infrainguinal orchyectomy had been performed in the past and controlateral cryptorchidism was not corrected. At the right inguinal exploration, a complete twist of the spermatic chord was observed and a right orchyectomy was then performed.DiscussionTesticular torsion in the inguinal canal is a rare reported condition that usually can involve patients with spastic neuromuscular disease. Processing, communication and verbalization of a chronic or acute pain seems to be different in a child with or without intellectual disability. It could be a lot more difficult to correct pain interpretation, with an important repercussion on pain accurate assessment and management.ConclusionIn the patients with intellectual disability, a control of the testicles, it should always be done, mostly in case of atypical behaviour.
| S-EPMC6111052 | biostudies-literature
Project description:Seminoma (SE) is the most frequent type of testicular tumour, affecting predominantly young men. Early detection and diagnosis of SE could significantly improve life quality and reproductive health after diagnosis and treatment. Copy number variation (CNV) has already been associated with various cancers as well as SE. In this study, we selected four genes (MAGEC2, NANOG, RASSF1A, and KITLG) for CNV analysis in genomic DNA (gDNA), which are located on chromosomes susceptible to gains, and whose aberrant expression was already detected in SE. Furthermore, CNV was analysed in cell-free DNA (cfDNA) from seminal plasma. Analysis was performed by droplet digital polymerase chain reaction (ddPCR) on gDNA from SE and nonmalignant testicular tissue. Seminal plasma cfDNA from SE patients before and after surgery was analysed, as well as from healthy volunteers. The CNV hotspot in gDNA from SE tissue was detected for the first time in all analysed genes, and for two genes, NANOG and KITLG it was reflected in cfDNA from seminal plasma. Although clinical value is yet to be determined, presented data emphasize a potential use of CNV as a potential SE biomarker from a liquid biopsy.
| S-EPMC8750740 | biostudies-literature
Project description:Testicular germ cell tumors (TGCTs) are classified into two main subtypes, seminoma (SE) and non-seminoma (NSE), but their molecular distinctions remain largely unexplored. Here, we used expression data for mRNAs and microRNAs (miRNAs) from The Cancer Genome Atlas (TCGA) to perform a systematic investigation to explain the different telomere length (TL) features between NSE (n?=?48) and SE (n?=?55). We found that TL elongation was dominant in NSE, whereas TL shortening prevailed in SE. We further showed that both mRNA and miRNA expression profiles could clearly distinguish these two subtypes. Notably, four telomere-related genes (TelGenes) showed significantly higher expression and positively correlated with telomere elongation in NSE than SE: three telomerase activity-related genes (TERT, WRAP53 and MYC) and an independent telomerase activity gene (ZSCAN4). We also found that the expression of genes encoding Yamanaka factors was positively correlated with telomere lengthening in NSE. Among them, SOX2 and MYC were highly expressed in NSE versus SE, while POU5F1 and KLF4 had the opposite patterns. These results suggested that enhanced expression of both TelGenes (TERT, WRAP53, MYC and ZSCAN4) and Yamanaka factors might induce telomere elongation in NSE. Conversely, the relative lack of telomerase activation and low expression of independent telomerase activity pathway during cell division may be contributed to telomere shortening in SE. Taken together, our results revealed the potential molecular profiles and regulatory roles involving the TL difference between NSE and SE, and provided a better molecular understanding of this complex disease.
| S-EPMC6781582 | biostudies-literature
Project description:INTRODUCTION: Gallbladder torsion is a rare, but potentially lethal disease, in which early recognition is crucial. CASE PRESENTATION: We describe the case of an 89-year-old Caucasian woman who presented with clinical symptoms suggestive of acute cholecystitis to our hospital. Radiological imaging confirmed our clinical diagnosis. At first we considered percutaneous gallbladder drainage because of her age and comorbidity, but instead performed laparoscopic cholecystectomy because of rapid clinical deterioration. During laparoscopy a necrotic gallbladder due to torsion of the gallbladder around the cystic duct was found. CONCLUSION: Because percutaneous drainage could lead to further deterioration in the case of gallbladder torsion, this rare condition should be considered before performing a percutaneous drainage of cholecystitis.
| S-EPMC3259112 | biostudies-literature
Project description:Gene expression patterns of testicular seminoma were analysed applying oligonucleotide microarrays in 40 specimens of different tumour stages (pT1, pT2, pT3) and in 3 normal testes. Keywords: ordered
2007-07-31 | GSE8607 | GEO