A Rare Case Report of 17q23.1q23.2 Microdeletion With Homozygosity of 11p11.2q13.4 in a Newborn.

We present the case of a newborn with 17q23.1q23.2 microdeletion and additional homozygosity of 11p11.2q13.4. In the literature, 17q23.1q23.2 microdeletion syndrome is a novel syndrome reported in nine patients. Our patient is a full-term baby boy admitted to a neonatal intensive care unit for hypoglycemia, respiratory distress, presumed sepsis, and thrombocytopenia. General appearance revealed microcephaly, micrognathia, ankyloglossia, small mouth, and high arch palate. The patient also presented with hypotonia, poor feeding, and poor weight gain in the first week of life followed by hypertonia and tremors from the second week of life. The phenotypic and clinical presentation lead to the genetic investigation of microarray which revealed 17q23.1q23.2 microdeletion and additional homozygosity of 11p11.2q13.4.

Endoscopic Management of Recalcitrant Marginal Ulcers by Covering the Ulcer Bed.

BACKGROUND: Management options for marginal ulcers (MU) vary from medical therapy to revision surgery. Medical therapy is often ineffective and revision surgery is associated with a high morbidity and possible recurrence. AIMS: To evaluate technical feasibility, efficacy, and safety of endoscopic management of MU by covering the ulcer bed using oversewing and/or deploying a fully covered self-expandable metallic stent (FCSEMS). METHODS: Medical records of consecutive patients who underwent endoscopic suturing and/or FCSEMS deployment for recalcitrant MU between August 2016 and June 2017 at a single academic center were reviewed. Recalcitrant MU was defined as an ulcer that persists after 6 to 8 weeks despite maximal medical therapy (open capsule PPI, 40 mg bid as well as sucralfate qid), cessation of smoking and nonsteroidal anti-inflammatory drugs (NSAIDs), and Helicobacter pylori eradication. RESULTS: Eleven patients (age range 31-60; all females) with mean BMI of 27.72 ± 5.93 kg/m2 underwent endoscopic suturing and/or stent deployment for recalcitrant MU with abdominal pain at a median of 50 months (range 3-120) post-Roux-en-Y gastric bypass (RYGB). Seven patients were managed by oversewing, two were managed by FCSEMS, and two patients required both. Technical success was 100%. All patients reported resolution of abdominal pain at 1 week. Surveillance endoscopy performed in 10/11 (90.9%) patients at 8 weeks revealed complete ulcer healing in 9/10 (90%). No adverse events were reported. CONCLUSION: Endoscopic management is an effective and safe method to treat MU and should be considered an alternative to surgical revision. It appears effective for perforated and recalcitrant MU.

Endoscopic suturing for the management of recurrent dislodgment of percutaneous endoscopic gastrostomy-jejunostomy tube.

OBJECTIVE: To describe a novel technique for the prevention of recurrent percutaneous endoscopic gastrostomy-jejunostomy (PEG-J) tube dislodgements and assess its feasibility and efficacy. This technique utilizes endoscopic suturing to secure the PEG-J tube to the gastric wall. METHODS: This was a retrospective analysis of consecutive cases of recurrent PEG-J tube dislodgements referred to a single endoscopist between June 2016 and June 2017, using an endoscopic suturing system to secure the PEG-J tube directly to the gastric wall. Technical success rates, the procedure time and related adverse events were analyzed. RESULTS: There were five patients in total (three females). The procedure was technically successful in all patients. There were no procedure-related adverse events. The mean duration of follow-up was 7.8 ± 5.1 months. Two patients had accidental dislodgement at 8.5 and 12 months, respectively. There were no other unintended dislodgements. CONCLUSION: Endoscopic suturing with internal fixation of PEG-J tube is a safe and feasible approach to manage recurrent unintended dislodgements.

A Randomized Controlled Trial Comparing the Depth of Maximal Insertion Between Anterograde Single-Balloon Versus Spiral Enteroscopy.

BACKGROUND: Three device-assisted deep endoscopic platforms presently exist and are available for clinical use: double-balloon enteroscopy, single-balloon enteroscopy (SBE), and spiral enteroscopy (SE). In a retrospective study, SE was associated with a greater depth of maximal insertion (DMI) with similar diagnostic yields and procedure time as compared with SBE. AIMS: This was a prospective, randomized comparison of SE and SBE with respect to DMI, diagnostic yield, procedure time, and rate of adverse events. METHODS: Patients were prospectively randomized to undergo either anterograde SE or SBE. Patient demographics, indication for procedure, DMI, procedure time, therapeutic procedure time, adverse event, diagnostic findings, and therapeutic interventions were prospectively recorded. The primary outcome was DMI. Secondary outcomes included: procedure time; diagnostic yield; therapeutic yield and adverse event rates. RESULTS: During the study period, 30 patients underwent deep enteroscopy (SE 13, SBE 17). The most common indication was gastrointestinal bleeding in both groups. There was no significant difference in the DMI between SE and SBE (330.0 ± 88.2 cm vs 285.3 ± 80.8 cm, P = .16). There was no difference between SE and SBE in procedure time (37.0 ± 10.5 vs 38.3 ± 12.4, P = .76), diagnostic yield (SE = 9 [69%] vs SBE = 7 [41%], P = .16), or therapeutic yield (SE = 6 [46%] vs SBE = 4 [24%], P = .26). There were no major adverse events in either group. CONCLUSIONS: Spiral enteroscopy and SBE are similar with respect to DMI, diagnostic yield, therapeutic yield, procedure time, and rate of adverse events. Small numbers prevent giving a definitive judgment and future adequately powered prospective study is required to confirm these findings.

Inversion Technique for the Removal of Partially Covered Self-Expandable Metallic Stents.

BACKGROUND AND AIMS: Partially covered self-expandable metallic stents (PCSEMS), although an effective treatment for anastomotic/staple line leaks and strictures, can be difficult to remove. This study examines the effectiveness of the inversion technique for the removal of PCSEMS in the treatment of leaks and strictures that occurred post-sleeve gastrectomy (SG) and Roux-en-Y gastric bypass (RYGB). METHODS: Consecutive patients who underwent PCSEMS removal for a leak and/or stricture post-SG or RYGB between July 2013 and December 2016 at the Johns Hopkins Medical Institutions were reviewed. All PCSEMS removals were first attempted via the inversion technique, which involves grasping the distal end of the stent and inverting it through itself. RESULTS: Fourteen patients (four males) underwent PCSEMS removal via the inversion technique for an anastomotic/staple line leak (50%), stricture (29%) or both (21%) post-SG (79%) or RYGB (21%). Technical success (successful removal of the stent) was achieved in one endoscopic session for 13 of the 14 PCSEMS (93%). One PCSEMS required the use of the stent-in-stent technique for removal. The median dwell time was 47 days (range 5-72). A distal partial occlusion developed in five patients (35%) due to tissue overgrowth and one PCSEMS (7%) migrated, necessitating premature removal. Eight patients (57%) experienced clinical success at follow-up, and six patients (43%) required subsequent treatment due to persistence or recurrence of the pathology. CONCLUSIONS: The inversion technique is a safe, effective, and efficient method of removing PCSEMS placed to correct anastomotic/staple line leaks and strictures post-SG and RYGB.

Endoscopic Suturing for Massively Bleeding Marginal Ulcer 10 days Post Roux-en-Y Gastric Bypass.

BACKGROUND: Marginal ulceration post Roux-en-Y gastric bypass (RYGB) with associated bleeding, although infrequently encountered, can be challenging to treat. Flexible endoscopic therapy is preferred over surgery due to its minimally invasive nature. Bleeding ulcers have traditionally been treated endoscopically by injecting epinephrine, bipolar hemostasis, or clips. Here, we describe our treatment with endoscopic suturing for a massively bleeding marginal ulcer after RYGB. METHODS: A 56-year-old female 10 days post RYGB underwent her fourth endoscopy for investigation and management of hematemesis and was found to have a large bleeding anastomotic ulcer. A Rothnet was utilized to remove large blood clots which obstructed endoscopic visualization. Two marginal ulcers were noted, and these were successfully oversewn with endoscopic suturing. The multimedia video (7 min) demonstrates the management of massively bleeding marginal ulcer after RYGB by endoscopic suturing. RESULTS: Patient had no further bleeding and tolerated diet the subsequent day. She was discharged home with no further episodes of hematemesis, and follow-up at 6 weeks showed well-healed ulcer on endoscopy. CONCLUSION: Endoscopic suturing of a bleeding marginal ulcer appears technically feasible and safe. It should be considered in the treatment algorithm prior to emergency surgery.

Endoscopic sleeve gastroplasty: the learning curve.

BACKGROUND AND STUDY AIMS: Endoscopic sleeve gastroplasty (ESG) is gaining traction as a minimally invasive bariatric treatment. Concern that the learning curve may be slow, even among those proficient in endoscopic suturing, is a barrier to widespread implementation of the procedure. Therefore, we aimed to define the learning curve for ESG in a single endoscopist experienced in endoscopic suturing who participated in a 1-day ESG training program. PATIENTS AND METHODS: Consecutive patients who underwent ESG between February 2016 and November 2016 were included. The performing endoscopist, who is proficient in endoscopic suturing for non-ESG procedures, participated in a 1-day ESG training session before offering ESG to patients. The outcome measurements were length of procedure (LOP) and number of plications per procedure. Nonlinear regression was used to determine the learning plateau and calculate the learning rate. RESULTS: Twenty-one consecutive patients (8 males), with mean age 47.7 ±â€Š11.2 years and mean body mass index 41.8 ±â€Š8.5 kg/m 2 underwent ESG. LOP decreased significantly across consecutive procedures, with a learning plateau at 101.5 minutes and a learning rate of 7 cases ( P  = 0.04). The number of plications per procedure also decreased significantly across consecutive procedures, with a plateau at 8 sutures and a learning rate of 9 cases ( P  < 0.001). Further, the average time per plication decreased significantly with consecutive procedures, reaching a plateau at 9 procedures ( P  < 0.001). CONCLUSIONS: Endoscopists experienced in endoscopic suturing are expected to achieve a reduction in LOP and number of plications per procedure in successive cases, with progress plateauing at 7 and 9 cases, respectively.

An Algorithmic Approach to the Management of Gastric Stenosis Following Laparoscopic Sleeve Gastrectomy.

BACKGROUND: Gastric stenosis (GS) is a potential adverse event post-laparoscopic sleeve gastrectomy (LSG). Endoscopic management is preferred; however, there is significant variation in therapeutic strategies with no defined algorithm. This study aims to describe the safety and efficacy of a predefined step-wise algorithm for endoscopic management of GS post-LSG. METHODS: Consecutive patients with symptomatic GS post-LSG, presenting between July 2015 and August 2016, were subjected to a predefined treatment algorithm of serial dilations using achalasia balloons, followed by a fully covered self-expanding metal stent (FCSEMS) if dilations were inadequate. Patients who did not respond or opted out of ongoing endoscopic therapy were offered revision Roux-en-Y gastric bypass (RYGB). RESULTS: Total of 17 patients underwent a median of 2 (range 1-4) balloon dilations. Twelve patients (70.6%) reported clinical improvement with balloon dilation alone, while 3 (17.6%) required subsequent FCSEMS placement. One patient suffered a tear to the muscularis propria with balloon dilation, which was managed conservatively. Overall, 15 (88.2%) reported clinical improvement with endoscopic management. PAGI-SYM scores revealed that the strongest response to therapy, based on mean reduction of score ± SD, was in the following items: nausea (3 ± 1.9, P < 0.001), heartburn during day (2.8 ± 1.5, P = 0.003), heartburn on lying down (3.4 ± 1.4, P < 0.001), reflux during day (2.8 ± 1.9, P < 0.001), and reflux on lying down (3.0 ± 1.9, P < 0.001). Two (11.8%) patients failed endoscopic therapy and underwent RYGB. CONCLUSIONS: Endoscopic management of GS using the described algorithmic approach is safe and effective post-LSG. Patients with severe stenosis or helical stenosis are likely to require revision RYGB.