Citations

AbstractThe number of available genetic testing options and the nuances associated with these options continue to expand. In addition, the scope of genetic testing has broadened to areas and specialties beyond Medical Genetics. In response to these changes, diagnostic laboratories have employed genetic counselors to help navigate the increasing complexity of genetic testing, given their expertise and training in human genetics. However a largely unrecognized aspect of this role involves the use of counseling skills. Counseling skills are used by laboratory genetic counselors in a variety of situations to convey information and facilitate understanding among clinicians and medical staff. This helps to reduce test ordering errors, promote optimal test utilization, and ensure best patient care practices. The specific counseling skills used by laboratory counselors will be explored using three fictional case vignettes, followed by a discussion of the applicability of these skills in other contexts. Exploration of the unique ways in which laboratory genetic counselors apply their counseling skills can be useful for professional development and instructive for graduate training programs.

Objectives: We report the clinical findings, surgical management, and outcomes for lingual thyroidectomy. Methods: We performed a retrospective case review of lingual thyroidectomy performed at 3 tertiary-care academic referral centers between 1994 and 2012. Results: Nine patients underwent lingual thyroidectomy for symptoms including globus sensation (6 patients), dysphagia (5 patients), and airway obstruction (5 patients). Before surgery, 3 patients had attempted medical suppressive therapy. Lingual thyroidectomy was performed by transoral laser microsurgery in 4 patients, transoral robotic surgery in 3 patients, transoral surgery without microscopic assistance in 1 patient, and an open approach with a modified Sistrunk procedure in 1 patient. Total thyroidectomy was attained in 7 patients, and subtotal resection in 2. The follow-up averaged 8 months, and all patients reported significant improvement in their symptoms. One patient had a recurrence. Complications included postoperative bleeding and epiglottic perforation in 1 patient and airway obstruction secondary to angioedema in another patient. There was no significant difference in operative times between transoral laser microsurgery (91 ± 16 minutes) and transoral robotic surgery (109 ± 35 minutes). Transoral surgery without microscopic assistance and open resection had longer operative times (206 and 246 minutes, respectively). Conclusions: Surgical resection of lingual thyroid glands achieves significant improvement in patient symptoms, with low rates of recurrence. We favor a total lingual thyroidectomy approach with use of either a microscope or a robotic endoscope for optical assistance.

ABSTRACT There has been controversy as to whether there is an underlying neurodegenerative process of the cerebellum in essential tremor (ET). The aim of this study was to examine whether ET is associated with Purkinje cell (PC) loss. Prospectively categorized ET and control subjects who were longitudinally examined in the Arizona Study for Aging and Neurodegenerative Disorders and came to autopsy between 1998 and 2013 underwent standardized neuropathological assessment of the brain. PC linear density of the cerebellar hemisphere was calculated in a blinded manner. There were 56 ET cases and 62 age‐matched controls free of dementia and other neurodegenerative disorders included in the study. Mean PC linear density was 3.80 ± 0.81 cells per mm for tremor cases and 3.82 ± 0.91 cells per mm for controls ( Δ 0.02; 95% confidence interval [CI]: −0.30‐0.34). PC counts were not associated with tremor duration (r = 0.06; 95% CI: −0.21‐0.32). These data demonstrate that ET is not associated with cerebellar PC loss. © 2014 International Parkinson and Movement Disorder Society

ObjectivesTo evaluate the oncologic safety of the submental flap regarding potential transposition of involved nodes to the reconstruction site and recognize the submental flap as an excellent option for oral cavity reconstruction.Study DesignCase series with chart review.SettingTertiary academic referral center.Subjects and MethodsAll patients undergoing reconstruction with submental flaps following the resection of primary and recurrent malignancies of the oral cavity between 2002 and 2012 were reviewed. Analysis included tumor location, staging, reconstructive details, postoperative course, and outcomes.ResultsFifty patients were identified having undergone submental flap reconstruction of defects following resection for oral cavity malignancies. No patient had identifiable clinical or radiographic level I nodal involvement preoperatively. Patients’ ages ranged from 35 to 88 years (mean, 70 years). American Joint Committee on Cancer staging of patients included stage II (n = 16, 32%), stage III (n = 10, 20%), and stage IVa disease (n = 28, 48%). All patients underwent a level 1A and 1B dissection with removal of the nodal basin and submandibular gland. The prevalence of occult lymph node metastasis involving level 1 was 10%. On follow‐up, there were no local recurrences associated with submental flap transposition to the oral cavity. One patient with multifocal oral disease had a tongue recurrence geographically separate from the submental flap reconstruction. There was 100% flap survival.ConclusionsThe submental flap provides a rapid and reliable option for oral cavity defect reconstruction. With appropriate management of the level 1 nodal compartment, oncologic outcomes are not compromised.

ObjectivesAnalyze the effect of ipsilateral submandibular gland preservation on patients undergoing concurrent neck dissection and transoral surgery for oropharyngeal squamous cell carcinoma. Evaluate for (1) intraoperative and postoperative communications between the oropharynx and neck and (2) oncologic outcomes.Study DesignRetrospective chart review of prospectively collected data.SettingTertiary academic referral center.Methods and SubjectsRetrospective chart review of patients undergoing transoral laser resection of oropharyngeal squamous cell carcinoma with simultaneous neck dissection(s) for primary, persistent, recurrent, and second primary disease between January 1999 and February 2013. Data analyzed for operative technique, pathologic diagnosis, postoperative course, complications, and oncologic outcomes.ResultsOverall 253 patients were identified. Of these, 96 patients underwent ipsilateral submandibular gland preservation and 157 underwent ipsilateral submandibular gland removal at the time of neck dissection. The prevalence of intraoperative communication between the neck and oropharynx was significantly lower in cases with submandibular gland preservation (2/96, 2.08%) compared to those with submandibular gland removal (22/157, 14.13%). No postoperative leaks occurred in the gland preservation group (0/96, 0%) compared to a leak prevalence of 8.92% (14/157) when the gland was removed (P =. 0041). There was no difference in local, regional, or distant disease recurrence between submandibular gland preservation and gland removal. Similarly, Kaplan‐Meier analysis showed no difference in disease free survival, disease specific survival, or overall survival.ConclusionsSubmandibular gland preservation during neck dissection in patients undergoing transoral surgery for oropharyngeal squamous cell carcinoma significantly reduces the risk of intraoperative and postoperative salivary leaks without compromising oncologic outcomes.

Objective To describe the extent of use and in‐hospital outcomes of open and laparoscopic pyeloplasty for paediatric pelvi‐ureteric junction ( PUJ ) obstruction in the USA . Patients and Methods Using the 2004–2008 N ationwide I npatient S ample, we identified 4590 paediatric patients (≤18 years old) who underwent open or laparoscopic pyeloplasty for PUJ obstruction at 195 hospitals. Multivariable regression models were used to test the associations between hospital and patient covariates (age, gender, race, primary health insurance), type of admission (emergent vs elective), and hospital characteristics (teaching vs non‐teaching status; rural vs urban location) with complications, length of stay ( LOS ), and total hospitalization costs. Results During the 5‐year study interval, 4426 (96.4%) and 164 (3.6%) paediatric patients diagnosed with PUJ obstruction underwent open and laparoscopic pyeloplasty, respectively. The proportion of patients undergoing laparoscopic pyeloplasty gradually increased from 2.4% in 2004 to 4.4% in 2008, but this increase was not significant ( P = 0.22 for trend). On multivariable analysis, laparoscopic pyeloplasty was observed to have rates of postoperative complications (2.51 vs 5.00; P = 0.67), LOS (2.42 vs 2.75; P = 0.33) and total hospitalization cost ($9755 vs $8537; P = 0.24) similar to those of open pyeloplasty. Conclusions While laparoscopic pyeloplasty was generally an infrequent operation performed for paediatric PUJ obstruction during the period studied, this minimally invasive surgery provided similar outcomes in terms of in‐hospital complications, LOS and total hospitalization costs. The results of this study inform policymakers about the comparative effectiveness of laparoscopic and open pyeloplasty.