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Journal of Vascular Anomalies
Number of Followers: 9  
 
  Full-text available via subscription Subscription journal
ISSN (Print) 2690-2702 - ISSN (Online) 2690-2702
Published by LWW Wolters Kluwer Homepage  [297 journals]
  • Sexual Function and Fertility in Males With Vascular Malformations of the
           Genitourinary Tract and Pelvis

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      Authors: Stewart; Jessica K.; Hartman, Terry; Adams, Denise M.; Fishman, Steven J.; Blatt, Julie
      Abstract: imageObjectives: A subset of males with vascular malformations (VM) have involvement of their genitourinary (GU) tract. The purpose of this study was to survey males with VM to investigate whether patients with GU involvement experience problems with sexual function and fertility.Methods: An anonymous survey was designed based on modifications of Patient-Reported Outcomes Measurement Information System and International Index of Erectile Function surveys to examine sexual interest, function, satisfaction, and fertility. Surveys were sent electronically to 709 males 18 years or older (or parents of minor males under age 18) with VM through the Klippel-Trenaunay Support Group, the CLOVES Syndrome Community, and the Lymphangiomatosis & Gorham’s Disease Alliance.Results: Evaluable responses were received from 42 surveys (5.9%). Thirty-three of the 42 responses (79%) were from males with VM involving the GU tract (4.6% of surveys sent). Of the 33 with GU VM, 17 (52%) reported one or more problems including pain with masturbation and/or intercourse, bleeding with masturbation and/or intercourse, lack of interest in sex, and erectile dysfunction. Fourteen of 33 reported that they had fathered children. There was no statistically significant difference in these symptoms compared with responses from men with VM not involving the pelvis.Conclusion: Males with VM involving or not involving the GU system may experience problems with sexual function and satisfaction. While prospective studies are needed to clarify the prevalence and extent of these symptoms, providers should be aware that such symptoms can occur in this patient population.
      PubDate: Wed, 01 Jun 2022 00:00:00 GMT-
       
  • Primary Upper Extremity Lymphedema Caused by a CELSR1 Variant

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      Authors: Sudduth; Christopher L.; Smits, Patrick J.; Cheng, Yu Sheng; Schmitz-Abe, Klaus; Agrawal, Pankaj; Greene, Arin K.
      Abstract: imagePrimary lymphedema of the upper extremity is rare and often is associated with syndromic or generalized lymphedema. The purpose of the study was to identify novel causes for primary lymphedema of the arm. A 17-year-old healthy male with right upper extremity swelling since infancy was confirmed to have lymphedema by lymphoscintigraphy. He subsequently developed right leg disease in adolescence and his mother had lower extremity lymphedema as well. Whole-exome sequencing of genomic DNA from the subject identified a frameshift deletion resulting in a premature stop codon in exon 3 of the CELSR1 gene hg19: chr22:46,835,160_46,835,166del (c.4326_4332del; p.T1443Gfs*14). The variant was confirmed in the patient and his mother by Sanger sequencing. A novel variant in CELSR1 causes nonsyndromic upper extremity lymphedema; other variants in this gene previously have been associated with lower extremity disease.
      PubDate: Wed, 01 Jun 2022 00:00:00 GMT-
       
  • A Comparative Review of Fibroadipose Vascular Anomaly and PTEN Hamartoma
           Syndrome of the Soft Tissue: A Case Review of FAVA and PHOST

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      Authors: Lin; Jaimie Y.; Ochmanek, Emily; Tchanque-Fossuo, Catherine N.; Fabre, Anna; Stepenaskie, Shelly; Williams, Jessica B.; Smidt, Aimee C.
      Abstract: imageFibroadipose vascular anomaly and PTEN hamartoma of the soft tissue are vascular anomalies that tend to present with similar clinical findings. These entities are often confused for other conditions, with patients regularly presenting to vascular anomalies specialists with incorrect diagnoses. As PTEN hamartoma of the soft tissue has been identified as a neoplastic syndrome, ensuring an accurate diagnosis is of paramount importance. The objective of this case review was to identify similarities and differences in the clinical, histologic, and radiologic findings between these 2 rare vascular anomalies.
      PubDate: Wed, 01 Jun 2022 00:00:00 GMT-
       
 
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