Previously undiagnosed genetic disease in adult patient with hepatic masses and reported history of congenital hyperinsulinism.

Glycogen storage disease type 1A (GSD1A), also known as Von Gierke's disease, is a rare autosomal recessive disorder affecting glycogen metabolism in the liver. It most commonly presents in infancy with hypoglycaemia and failure to thrive, but cases have been reported as undiagnosed until adulthood. A woman in her early 20s with diabetes mellitus presented with right upper quadrant pain and was found to have several haemorrhagic hepatic adenomas. This patient had insulin-dependent diabetes since a pancreatectomy at age 9 months due to continued episodes of hypoglycaemia and suspected insulinoma. During the hospital stay, the hepatic adenomas were embolised, but significant lactic acidosis and hypoglycaemia continued. Further workup revealed a chronic lactic acid level, during several hospital stays, of above 5 mmol/L. After cytology of hepatic tissue ruled out hepatocellular carcinoma, the patient was discharged and recommended to follow-up for genetic testing, which confirmed the diagnosis of GSD1A.

Characterization of Laryngopharyngeal Reflux in the Elderly Population.

INTRODUCTION: Laryngopharyngeal reflux (LPR) often is not diagnosed due to its presentation without heartburn. The aim of this study was to analyze the signs and symptoms of elderly patients undergoing treatment for LPR using subjective as well as objective measures including strobovideolaryngoscopies, 24-hour pH studies, and manometry to highlight appropriate considerations for diagnosis and treatment. METHODS: This was a retrospective review of patients with laryngopharyngeal reflux who were seen from January 2010 to February 2021 in the practice of the senior author (Robert T. Sataloff) who had undergone 24-hour pH testing, and for whom all data were available. Patients aged 60 years and older were considered elderly and compared to patients younger than 40 and between the ages of 40 and 59. However, patients in their 60s, 70s, and 80s were evaluated and compared separately. Objective reflux findings, 24-hour pH studies, and manometry were compared between groups. RESULTS: Two hundred and eighty-eight patients being treated for LPR were included, 100 of whom were over the age of 60. While 94.1% of patients younger than 40 had a chief complaint of hoarseness, 71% percent of those aged 60 and older complained of hoarseness. Patients aged 60 and older were more likely to present with no voice complaint as their age increased (P = 0.001). Lower esophageal sphincter residual pressure was 12.15 ±â€¯6.28 in elderly patients compared to 4.90 ±â€¯3.38 in patients younger than 40 (P < 0.001). Upper esophageal sphincter (UES) basal pressure was decreased in elderly patients at 83.84 ±â€¯50.53 compared to 105.92 ±â€¯51.49 in patients younger than 60 or younger (P = 0.029). Older patients in their 70s and 80s also had lower UES basal pressures at 75.79 ±â€¯47.66 and 63.45 ±â€¯14.50 (P = 0.003). Additionally, while 71.4% of patients younger than 40 had normal esophageal motility (Chicago classification v4), only 40% of elderly patients had normal esophageal motility (P < 0.001). More severe ventricular obliteration also was present in elderly patients compared to non-elderly patients (P = 0.032), and thick endolaryngeal mucus was less likely to be present in elderly patients (P = 0.007). Reflux finding score differed between age groups with patients aged less than 40 scoring 14.78 ±â€¯2.5, 40-59 year olds scoring 15.83 ±â€¯2.13 and patients 60 and older scoring 15.48 ±â€¯2.43 (P = 0.018). CONCLUSION: Elderly patients diagnosed with LPR have different presentations of the disease compared with younger patients.

Esophageal body adaptation to Nissen fundoplication: Increased esophagogastric outflow resistance yields delayed and sustained peristaltic contractions without increased amplitude.

BACKGROUND: Improvement in lower esophageal sphincter (LES) competency after laparoscopic Nissen fundoplication (LNF) is well established, yet esophageal body physiology data are limited. We aimed to describe the impact of LNF on whole esophagus physiology using standard and novel manometric characteristics. METHODS: A cohort of patients with an intact fundoplication without herniation and no postoperative dysphagia were selected and underwent esophageal manometry at one-year after surgery. Pre- and post-operative manometry files were reanalyzed using standard and novel manometric characteristics and compared. KEY RESULTS: A total of 95 patients were included in this study. At 16.1 (8.7) months LNF increased LES overall and abdominal length and resting pressure (p < 0.0001). Outflow resistance (IRP) increased [5.8 (3-11) to 11.1 (9-15), p < 0.0001] with a 95th percentile of 20 mmHg in this cohort of dysphagia-free patients. Distal contractile integral (DCI) also increased [1177.0 (667-2139) to 1321.1 (783-2895), p = 0.002], yet contractile amplitude was unchanged (p = 0.158). There were direct correlations between pre- and post-operative DCI [R: 0.727 (0.62-0.81), p < 0.0001] and postoperative DCI and postoperative IRP [R: 0.347 (0.16-0.51), p = 0.0006]. Contractile front velocity [3.5 (3-4) to 3.2 (3-4), p = 0.0013] was slower, while distal latency [6.7 (6-8) to 7.4 (7-9), p < 0.0001], the interval from swallow onset to proximal smooth muscle initiation [4.0 (4-5) to 4.4 (4-5), p = 0.0002], and the interval from swallow onset to point when the peristaltic wave meets the LES [9.4 (8-10) to 10.3 (9-12), p < 0.0001] were longer. Esophageal length [21.9 (19-24) to 23.2 (21-25), p < 0.0001] and transition zone (TZ) length [2.2 (1-3) to 2.5 (1-4), p = 0.004] were longer. Bolus clearance was inversely correlated with TZ length (p = 0.0002) and time from swallow onset to proximal smooth muscle initiation (p < 0.0001). Bolus clearance and UES characteristics were unchanged (p > 0.05). CONCLUSIONS & INFERENCES: Increased outflow resistance after LNF required an increased DCI. However, this increased contractile vigor was achieved through sustained, not stronger, peristaltic contractions. Increased esophageal length was associated with increased TZ and delayed initiation of smooth muscle contractions.

Peroral Endoscopic Myotomy (POEM) and Laparoscopic Heller Myotomy with Dor Fundoplication for Esophagogastric Junction Outflow Obstruction (EGJOO): a Comparison of Outcomes and Impact on Physiology.

INTRODUCTION: Esophagogastric junction outflow obstruction (EGJOO) is an esophageal motility disorder characterized by failure of lower esophageal sphincter (LES) relaxation with preserved peristalsis. Studies have shown that Heller myotomy with Dor fundoplication (HMD) and per oral endoscopic myotomy (POEM) are effective treatments for EGJOO. However, there is paucity of data comparing the efficacy and impact of these two procedures. Therefore, the aim of this study was to compare outcomes and impact on esophageal physiology in patients undergoing HMD or POEM for primary EGJOO. METHODS: This was a retrospective review of patients who underwent either HMD or POEM for primary EGJOO at our institution between 2013 and 2021. Favorable outcome was defined as an Eckardt score ≤ 3 at 1 year after surgery. GERD-HRQL questionnaire, endoscopy, pH monitoring, and high-resolution manometry (HRM) results at baseline and 1 year after surgery were compared pre- and post-surgery and between groups. Objective GERD was defined as DeMeester score > 14.7 or LA grade C/D esophagitis. RESULTS: The final study population consisted of 52 patients who underwent HMD (n = 35) or POEM (n = 17) for EGJOO. At a mean (SD) follow-up of 24.6 (15.3) months, favorable outcome was achieved by 30 (85.7%) patients after HMD and 14 (82.4%) after POEM (p = 0.753). After HMD, there was a decrease GERD-HRQL total score (31 (22-45) to 4 (0-19); p < 0.001), and objective reflux (54.2 to 25.9%; p = 0.033). On manometry, there was a decrease in LES resting pressure (48 (34-59) to 13 (8-17); p < 0.001) and IRP (22 (17-28) to 8 (3-11); p < 0.001), but esophageal body characteristics did not change (p > 0.05). Incomplete bolus clearance improved (70% (10-90) to 10% (0-40); p = 0.010). After POEM, there was no change in the GERD-HRQL total score (p = 0.854), but objective reflux significantly increased (0 to 62%; p < 0.001). On manometry, there was a decrease in LES resting pressure (43 (30-68) to 31 (5-34); p = 0.042) and IRP (23 (18-33) to 12 (10-32); p = 0.048), DCI (1920 (1600-5500) to 0 (0-814); p = 0.035), with increased failed swallows (0% (0-30) to 100% (10-100); p = 0.032). Bolus clearance did not improve (p = 0.539). Compared to HMD, POEM had a longer esophageal myotomy length (11 (7-15)-vs-5 (5-6); p = 0.001), more objective reflux (p = 0.041), lower DCI (0 (0-814)-vs-1695 (929-3101); p = 0.004), and intact swallows (90 (70-100)-vs-0 (0-40); p = 0.006), but more failed swallows (100 (10-100); p = 0.018) and incomplete bolus clearance (90 (90-100)-vs-10 (0-40); p = 0.004). CONCLUSION: Peroral endoscopic myotomy and Heller myotomy with Dor fundoplication are equally effective at relieving EGJOO symptoms. However, POEM causes worse reflux and near complete loss of esophageal body function.

Safety and Efficacy of Outpatinet Type 1 Thyroplasty Using Gore-Tex for Mobile Vocal Folds.

INTRODUCTION: Type 1 thyroplasty treats glottic insufficiency (GI) through vocal fold medialization. The safety of type 1 thyroplasty and its efficacy in an outpatient setting have not been investigated in patients with mobile vocal folds. OBJECTIVE: The purpose of this study was to investigate efficacy and safety of outpatient type 1 thyroplasty using Gore-Tex for mobile vocal folds. METHODS: Patients from our voice center who had vocal fold paresis, had not had prior thyroplasty, and who underwent type 1 thyroplasty using Gore-Tex implants and were followed for at least 3 months were included in this retrospective study. Strobovideolaryngoscopy footage from each patient's preoperative and postoperative visits was compiled and de-identified. Three blinded physician raters reviewed and evaluated the videos to determine glottic closure and complications. Interrater reliability was moderate and intrarater reliability was good for GI. RESULTS: A total of 108 patients with an average age of 49.6 years were included in the retrospective cohort. GI improved significantly in patients from preoperative to first postoperative visit and from preoperative to second postoperative visit. The GI improvement from the second to third visit was not significant. In total, 33 patients underwent additional Thyroplasty, 12 due to revision from a complication and 25 for further voice improvement. There were no major complications seen. Within 1 month of surgery, the most frequent findings were edema and hemorrhage. Long-term complications evaluated by raters were reported inconsistently with poor interrater and intrarater reliability, and therefore were excluded. CONCLUSION: Overall, outpatient type 1 thyroplasty using a Gore-Tex implant is safe and effective in treating dysphonia due to GI in patients with vocal fold paresis and mobile vocal folds. There were no major complications within 1 week of surgery requiring hospitalization, supporting the literature that type 1 thyroplasty is safe to perform in the outpatient setting.

Sex differences in autoimmune inner ear disease treatment and audiological outcomes.

OBJECTIVE: The primary objective of this study was to assess possible sex-related differences in AIED treatment. The secondary aim was to assess the long-term outcomes of treatment using pre- and post-treatment audiometry and speech discrimination scores. METHODS: Adult patients with a diagnosis of AIED who were treated for their condition at the senior author's (RTS) practice from 2010 to 2022 were included in this study. Patients were grouped as males or females for further analysis and comparison. Data included past medical history, medication use, surgical history and social history. Air-conduction thresholds (500 to 8000 Hz) were collected and averaged into discrete variables for pre- and post-treatment. The change (∆) and percent change (%∆) of these variables following therapy were analyzed. Speech discrimination score (SDS) testing results were taken at the same time points as pure tone averages, and patients were sub-stratified based on evidence of improvement in SDS and compared accordingly. RESULTS: One hundred eighty-four patients (78 male/106 female) were included in this study. The mean age of the male participants was 57.18 ± 15.92 years, and the mean age of the female participants was 53.49 ± 16.04 years (p = 0.220). Comorbid autoimmune disease (AD) was more prevalent in females than in males (38.7 % vs. 16.7 %, p = 0.001). Of the patients treated with oral steroids, females received significantly more courses than males (2.554 ± 2.078 vs. 1.946 ± 1.301, p = 0.020). However, the average duration of oral steroids used per trial did not differ significantly between males and females (21.02 ± 18.05 vs. 20.62 ± 7.49, p = 0.135). Audiological results demonstrated that the change (∆) in pure tone average (PTA) at 0.5, 1, 2, and 3 kHz (-4.21 ± 6.394 vs. -3.91 ± 6.105) and high-frequency pure tone average (HFPTA) at 4, 6, and 8 kHz (-4.55 ± 6.544 vs. -2.19 ± 6.842) was not significantly different between the sexes following treatment (p = 0.376 and p = 0.101, respectively). Similarly, the percentage change (%∆) in PTA (-13.17 % vs. -15.01 %) and HFPTA (-8.50 % vs. -6.76 %) also did not differ significantly between males and females (p = 0.900 and p = 0.367, respectively). One hundred-five (57.1 %) patients qualified for the SDS improvement subgroup for analysis, with 50 (47.6 %) being male and 55 (51.9 %) being female (p = 0.159). The change (∆) in SDS (15.12 ± 21.159 vs. 10.62 ± 19.206) and the percentage change (%∆) in SDS (16.71 % vs. 12.40 %) also showed no significant difference between male and female patients (p = 0.312 and p = 0.313, respectively). CONCLUSION: AIED is not a uniform condition regarding clinical presentation, audiological findings or progression, nor is its treatment straightforward. The utilization and duration of cytotoxic medications, as well as PTA and SDS findings, did not differ between the sexes. However, significantly more courses of oral steroids were prescribed to females than males. Sex as a biological variable and its implications in the pathogenesis and treatment of AIED warrant further study.