Verrucous venous malformation (VVM), also called “verrucous hemangioma,” is a non-hereditary, congenital, vascular anomaly comprised of aberrant clusters of malformed dermal venule-like channels ...underlying hyperkeratotic skin. We tested the hypothesis that VVM lesions arise as a consequence of a somatic mutation. We performed whole-exome sequencing (WES) on VVM tissue from six unrelated individuals and looked for somatic mutations affecting the same gene in specimens from multiple persons. We observed mosaicism for a missense mutation (NM_002401.3, c.1323C>G; NP_002392, p.Iso441Met) in mitogen-activated protein kinase kinase kinase 3 (MAP3K3) in three of six individuals. We confirmed the presence of this mutation via droplet digital PCR (ddPCR) in the three subjects and found the mutation in three additional specimens from another four participants. Mutant allele frequencies ranged from 6% to 19% in affected tissue. We did not observe this mutant allele in unaffected tissue or in affected tissue from individuals with other types of vascular anomalies. Studies using global and conditional Map3k3 knockout mice have previously implicated MAP3K3 in vascular development. MAP3K3 dysfunction probably causes VVM in humans.
Replantation and revascularization in the pediatric extremity has unique challenges that provide a fertile field of research and clinical experience. Children regenerate peripheral nerves rapidly, ...resulting in good sensory and motor function. They adapt well to functional deficits and mismatch errors of reinnervation. The technical aspects of microsurgical care in children can be challenging because the structures are small. Additional technical challenges include preservation of growth centers, prevention of vasospasm, protection of the reconstruction, and psychosocial care. Despite these challenges, children show excellent functional outcomes with minimal complications.
Vascular Anomalies Taghinia, Amir H.; Upton, Joseph
The Journal of hand surgery (American ed.),
December 2018, 2018-Dec, 2018-12-00, 20181201, Letnik:
43, Številka:
12
Journal Article
Recenzirano
Vascular anomalies encompass a wide variety of clinical conditions involving the vasculature. Over the past several decades, the terminology has changed as our understanding of these conditions has ...improved. A well-accepted classification scheme has evolved with constant additions, updates, and revisions. Imaging techniques have also advanced with greater resolution and a better understanding of the correlation between imaging, clinical behavior, and natural history. Meanwhile, the treatment of these conditions has also changed, with greater focus on minimally invasive techniques as opposed to radical surgery. Despite these changes, surgical intervention remains a high-value option for select patients. With greater understanding of the molecular basis of these diseases, medical treatment has improved especially in severe cases where options remain limited. A multidisciplinary approach to comprehensive patient care usually yields the best outcome and is strongly encouraged.
Syndactyly is one of the most common congenital differences treated by hand surgeons. Although dozens of techniques for syndactyly release have been described, a reliable method is based on a dorsal ...rectangular flap for commissure construction and a combination of interdigitating zigzag flaps and skin grafts for digital coverage. In this article, the authors present a detailed description of syndactyly release emphasizing principles integral to successful outcomes.
Central conducting lymphatic anomalies (CCLA) may cause chylous leaks and protein-losing enteropathy (PLE) owing to dysfunction of the central lymphatic channels. Most of the treatment strategies for ...these conditions are palliative and provide transient improvement.
We treated 14 patients with intractable chylous leak and/or PLE using a novel technique of lymphaticovenous bypass of the terminal portion of the thoracic duct. Chylous leaks occurred in multiple different anatomic sites. All patients had CCLA and failure of thoracic duct emptying demonstrated by preoperative intranodal lymphangiography.
Five patients had complete resolution of symptoms, and two patients had partial improvement. There were no major complications. Of 5 patients with PLE, only one improved after lymphaticovenous bypass. Repeat traditional lymphangiography was performed in 4 patients who did not improve, demonstrating patency of the bypass in all cases with persistent sluggish drainage. One patient had repeat MR lymphangiography that did not show the thoracic duct well.
Bypass of the terminal thoracic duct is a novel procedure that offers improvement and a chance of cure for some patients with devastating manifestations of CCLA who lack other effective therapeutic options.
IV.
Pollicization can be performed for secondary thumb reconstruction after traumatic injury or for primary thumb construction in cases of congenital thumb hypoplasia. Given the complexity of this ...operation, intimate familiarity with the involved anatomy and surgical principles is key to successful surgical outcomes. In this Video Plus article, the authors present a step-by-step approach to pollicization in case of Blauth type IIIB thumb hypoplasia.
A growing number of transgender patients are receiving gender-affirming hormone treatments. It is unclear whether the evidence supports the current practice of routinely discontinuing these hormones ...prior to surgery.
To determine how medications used in cross-sex hormone treatment (CSHT) affect perioperative risk.
A series of searches were carried out in PubMed and Excerpta Medica Database to identify articles using each of the terms testosterone, estrogen, estradiol, oral contraceptive, spironolactone, cyproterone acetate, finasteride, dutasteride, leuprolide, goserelin, and histrelin, in combination with the terms surgery, perioperative, thrombosis, thromboembolism, and operative. The search was not restricted to perioperative outcomes in transgender populations because many surgeons routinely discontinue hormone use prior to surgery in this population, which makes it impossible to study how hormones affect outcomes. Additional sources were also identified from the texts of reviewed articles. Articles were excluded if they were animal studies or case reports, did not explicitly discuss surgical outcomes, or were restricted to removal of hormonally sensitive tissues.
Eighteen articles addressing perioperative outcomes were identified by this systematic review, including 1 on CSHT, 12 on estrogens and progesterones, 1 on testosterone, and 4 on spironolactone and antiandrogens. Data were limited, but use of exogenous testosterone was not found to be associated with an increased risk of venous thromboembolism or other complications during surgery. Moderate evidence suggests that spironolactone is not associated with negative surgical outcomes. The data linking estrogen use and thrombosis is inconsistent in the perioperative period and does not address the types of estrogens most often used for CSHT.
Current evidence does not support routine discontinuation of all CSHT prior to surgery, particularly given the lack of information on risks associated with resuming these medications after they have been stopped. Evidence suggests there is no need to discontinue either testosterone or spironolactone, although their association with perioperative outcome quality has not been studied in depth. Most of the evidence that supports discontinuation of estrogen prior to surgery is based on oral estrogen regimens that are not typically used in transgender patients, and even with those formulations, there are conflicting reports on perioperative risk. Further research is needed to determine the safety of continuing hormone treatment and elucidate risks of short-term discontinuation.
A cross-sectional study was conducted to assess the comparative effectiveness of virtual visits for preoperative evaluation and surgical decision-making in three pediatric surgical subspecialties.
...Patients who underwent surgical procedures in the departments of Urology, Ophthalmology, and Plastic and Oral Surgery at a tertiary care pediatric hospital over a one-year period during the COVID-19 pandemic were included. Patients were assigned to one of three clinical pathways based on their preoperative visit(s): only in-person visit(s) (IP), a combination of in-person and virtual visit(s) (IP/VV), and only virtual visit(s) (VV). Demographics, procedure information, and patient experience survey results were collected. We then assessed variations in procedure types and patient experience scores in these three patient groups.
There were 431 patients who completed the modified patient experience survey. The most common procedures were circumcision (17%), excision of lesion (16%), and strabismus repair (11%). Survey results were positive, with 90% of participants rating that they would recommend the service to others. No significant differences were found among groups in their demographics, overall care rating, and duration between preoperative clinic visit and procedure. Post-hoc power analysis indicated 87% power to detect a 10% difference in survey ratings between IP and VV cases, confirming non-inferiority in patient satisfaction for virtual preoperative visits.
This study demonstrated the non-inferiority of preoperative virtual visits in three pediatric surgical subspecialties as measured by patient experience scores. Additional studies with more granular scope are necessary to further elucidate telemedicine's safety and efficacy for select diagnoses.
III.
•What is current known about this topic?•Rise in telehealth adoption during COVID-19 highlights need for pediatric care adaptability.•What new information is contained in this article?•Telehealth pediatric pre-op evaluations non-inferiority to in-person, per patient experience scores and access.
The goal of this study was to determine upper-extremity function and health-related quality of life in a cohort of adults with Apert syndrome.
Twenty-two adults with Apert syndrome completed the ...Disabilities of the Arm, Shoulder, and Hand survey; the 36-Item Short-Form Health Survey; and a semistructured interview. One surgeon administered the Jebsen Hand Function Test and measured sensation, joint motion, and strength.
Median Disabilities of the Arm, Shoulder, and Hand score was 16.9, which indicated slightly greater disability than the population norm of 10.1. Median 36-Item Short-Form Health Survey scores were 54.5 for mental health and 57.0 for physical health-both more favorable than population norms. Total Jebsen Hand Function Test scores for dominant hand were 69.2 seconds for men and 64.7 seconds for women versus 37.8 seconds for population norms of both sexes. More complex syndactyly resulted in worse metacarpophalangeal joint motion but no significant difference in Disabilities of the Arm, Shoulder, and Hand; 36-Item Short-Form Health Survey; or other functional results. There was no difference in self-reported outcomes between patients with four (n = 8) versus five digits (n = 14) in each hand.
In this cohort of adults with Apert syndrome, self-reported assessment of disability was more favorable than measured functional data would suggest. Despite significant functional deficits, the participants in this study had adapted remarkably well.
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