scholarly journals P.104 Children with Trisomy 21 and Lennox-Gastaut Syndrome with predominant myoclonic seizures

2021 ◽  
Vol 48 (s3) ◽  
pp. S49-S49
Author(s):  
MJ MacDonald ◽  
J Crawford ◽  
A Datta
Keyword(s):  
Trisomy 21 ◽  
Case Series ◽  
Severe Form ◽  
Seizure Type ◽  
Pediatric Epilepsy ◽  
Retrospective Case ◽  
Spike Wave Discharges ◽  
Long Term Prognosis ◽  
Neuro Imaging

Background: Lennox-Gastaut syndrome (LGS) is a severe form of pediatric epilepsy that is classically defined by a triad of drug-resistant seizures, characteristic EEG patterns, and intellectual disability. Long-term prognosis is generally poor with progressive intellectual deterioration and persistent seizures. At present, there are few reported cases of LGS and Trisomy 21 (T21) in the literature. To further delineate the spectrum of epilepsy in T21, we reviewed children with T21 and LGS at one center over 28 years. Methods: This is a retrospective case series. At our institution, all EEG results are entered into a database, which was queried for patients with T21 from 1992-2019. Pertinent electro-clinical data was obtained from medical records. Results: 63 patients with T21 and epilepsy, 6 (10%) had LGS and were included in the study. Four of the six patients were male and 5/6, had neuro-imaging, which was normal. Follow-up ranged from 3-20 years. Notably, 5/6 had predominant myoclonic seizures throughout the course of their epilepsy, associated with generalized spike-wave discharges. Conclusions: Myoclonic seizures appear to be a predominant seizure type in patients with T21, suggestive that T21 patients may have a unique pattern of LGS.

Children With Trisomy 21 and Lennox-Gastaut Syndrome With Predominant Myoclonic Seizures

2021 ◽  
pp. 088307382110260
Author(s):  
Matthew Macdonald ◽  
Jacqueline Crawford ◽  
Anita N. Datta
Keyword(s):  
Trisomy 21 ◽  
Case Series ◽  
Severe Form ◽  
Seizure Type ◽  
Pediatric Epilepsy ◽  
Retrospective Case ◽  
Spike Wave Discharges ◽  
Long Term Prognosis ◽  
Atypical Absence

Introduction: Lennox-Gastaut syndrome is a severe form of pediatric epilepsy that is classically defined by a triad of drug-resistant seizures, including atonic, tonic, and atypical absence seizures; slow spike-and-wave discharges and paroxysmal fast activity on electroencephalography (EEG); and cognitive and behavioral dysfunction. In the vast majority, Lennox-Gastaut syndrome develops in patients with an identified etiology, including genetic or structural brain abnormalities. Long-term prognosis is generally poor with progressive intellectual deterioration and persistent seizures. At present, there are few reported cases of Lennox-Gastaut syndrome and trisomy 21 in the literature. To further delineate the spectrum of epilepsy in trisomy 21, we reviewed children with trisomy 21 and Lennox-Gastaut syndrome at one center over 28 years. Methods: This is a retrospective case series. At our institution, all EEG results are entered into a database, which was queried for patients with trisomy 21 from 1992 to 2019. Pertinent electroclinical data was obtained from medical records. Results: Of 63 patients with trisomy 21 and epilepsy, 6 (10%) had Lennox-Gastaut syndrome and were included in the study. Four of the 6 patients were male and 5 of 6 had neuroimaging, which was normal. Follow-up ranged from 3 to 20 years. Notably, 5 of 6 had predominant myoclonic seizures throughout the course of their epilepsy, associated with generalized spike-wave discharges, <100 milliseconds. Conclusion: We observed myoclonic seizures to be a predominant seizure type in patients with trisomy 21, suggestive that trisomy 21 patients may have a unique pattern of Lennox-Gastaut syndrome.

scholarly journals Recurrent contracted sockets treated with personalized, three-dimensionally printed conformers and buccal grafts

2021 ◽  
pp. 112067212110000
Author(s):  
Annabel LW Groot ◽  
Jelmer S Remmers ◽  
Roel JHM Kloos ◽  
Peerooz Saeed ◽  
Dyonne T Hartong
Keyword(s):  
Three Dimensional ◽  
Case Series ◽  
Secondary Outcome ◽  
Retrospective Case ◽  
Upper Eyelid ◽  
Ocular Prosthesis ◽  
Buccal Mucosal Graft ◽  
Custom Made ◽  
3D Printed

Purpose: Recurrent contracted sockets are complex situations where previous surgeries have failed, disabling the wear of an ocular prosthesis. A combined method of surgery and long-term fixation using custom-made, three-dimensional (3D) printed conformers is evaluated. Methods: Retrospective case series of nine patients with recurrent excessive socket contraction and inability to wear a prosthesis, caused by chemical burns ( n = 3), fireworks ( n = 3), trauma ( n = 2) and enucleation and radiotherapy at childhood due to optic nerve glioma ( n = 1) with three average previous socket surgeries (range 2–6). Treatment consisted of a buccal mucosal graft and personalized 3D-printed conformer designed to be fixated to the periosteum and tarsal plates for minimal 2 months. Primary outcome was the retention of an ocular prosthesis. Secondary outcome was the need for additional surgeries. Results: Outcomes were measured at final follow-up between 7 and 36 months postoperatively (mean 20 months). Eight cases were able to wear an ocular prosthesis after 2 months. Three cases initially treated for only the upper or only the lower fornix needed subsequent surgery for the opposite fornix for functional reasons. Two cases had later surgery for cosmetic improvement of upper eyelid position. Despite pre-existing lid abnormalities (scar, entropion, lash deficiency), cosmetic outcome was judged highly acceptable in six cases because of symmetric contour and volume, and reasonably acceptable in the remaining two. Conclusions: Buccal mucosal transplant fixated with a personalized 3D-designed conformer enables retention of a well-fitted ocular prosthesis in previously failed socket surgeries. Initial treatment of both upper and lower fornices is recommended to avoid subsequent surgeries for functional reasons.

Long-Term Stability After Regenerative Treatment of Infrabony Defects: A Retrospective Case Series

2017 ◽  
Vol 88 (6) ◽  
pp. 536-542 ◽  
Author(s):  
Katrin Nickles ◽  
Bettina Dannewitz ◽  
Kerstin Gallenbach ◽  
Tatjana Ramich ◽  
Susanne Scharf ◽  
...  
Keyword(s):  
Case Series ◽  
Retrospective Case ◽  
Term Stability ◽  
Long Term Stability ◽  
Retrospective Case Series ◽  
Infrabony Defects

scholarly journals Urinary and sexual functions after surgical treatment of penile fracture concomitant with complete urethral disruption

2014 ◽  
Vol 86 (1) ◽  
pp. 15 ◽  
Author(s):  
Ali Abdel Raheem ◽  
Hassan El-Tatawy ◽  
Ahmed Eissa ◽  
Abdel Hamid Elbahnasy ◽  
Mohamed Elbendary
Keyword(s):  
Case Series ◽  
Surgical Reconstruction ◽  
Urethral Injury ◽  
Penile Curvature ◽  
Retrospective Case ◽  
Penile Fracture ◽  
Case Series Study ◽  
Long Term Follow Up

Objectives: Penile fracture with concomitant complete urethral disruption is an uncommon urologic disorder. Data about the treatment and outcome measurements of this condition are scarce in the literature. The aim of the present study is to evaluate the long term urinary and sexual functions of patients with penile fracture associated with complete urethral injury after immediate surgical reconstruction. Patients and methods: Twelve patients met our inclusion criteria and were included in this retrospective case series study; however, one was lost during follow-up. Patient's medical records were reviewed and all patients were interviewed for clinical evaluation. Urinary function was assessed by history, uroflometry and retrograde urethrography, while, sexual function was assessed by questionnaire (Sexual Health Inventory for Men) and penile Doppler for patients with erectile dysfunction. Results: Patients’ mean age was 32.3 ± 7.5 years (range 21-43) and the mean follow-up period was 72.6 ± 45.4 months (range 14-187). Vigorous sexual intercourse was the main cause in 91% of our patients. No serious long term complications was found. Only 1 patient (9%) suffered from anterior urethral stricture, 1 patient (9%) complained of weak erection, 3 patients (27%) had a palpable fibrosis and 2 patients (18%) reported a slight penile curvature during erection. Ninety one percent of all our patients maintained their normal urinary and sexual functions. Conclusion: On the long term follow-up, most of the patients maintained their normal erectile and voiding functions with no harmful long-term complications. We advocate immediate surgical intervention and reconstruction of both corpora cavernous and urethra as a first line treatment for those patients.

scholarly journals Safety and efficacy of posterior iris claw intraocular lens fixation in aphakic patients

2018 ◽  
Vol 16 (2) ◽  
pp. 124-133
Author(s):  
Rosemary Tomy ◽  
Rajkumar Maheshwari ◽  
Ansa Parveen Kunhu Muhammed ◽  
Venkataramana Kalikivayi ◽  
Sajeev Cherian Jacob
Keyword(s):  
Intraocular Lens ◽  
Anterior Segment ◽  
Case Series ◽  
Visual Outcome ◽  
Applanation Tonometry ◽  
Long Term Results ◽  
Retrospective Case ◽  
Case Series Study ◽  
Wide Range

Purpose: To assess the indications and visual outcome of eyes undergoing posterior iris fixated intraocular lens (IFIOL) implantation for aphakia, to identify reasons for poor visual outcome, and report occurrence of complications. Methods: In this retrospective case series study, all cases of posterior IFIOL fixation performed over a 30-month period were identified retrospectively. Preoperative and postoperative evaluations comprised objective and subjective refraction, best corrected visual acuity (BCVA), slit lamp biomicroscopy, applanation tonometry, and dilated fundus examination. Results: Fifty-six eyes of 56 patients were analyzed. Mean age was 60.55 ± 17.2 years. The most common indication for IFIOL implantation was surgical aphakia following complicated cataract surgery (n = 33; 58.9%) followed by trauma (n = 10; 17.9%), dropped nucleus/IOL during primary surgery (n = 6; 10.7%), and subluxated/dislocated lens-induced glaucomas (n = 5; 8.9%). BCVA better than or equal to their preoperative BCVA was achieved in 96.43% patients. The surgical aphakia and paediatric/adolescent groups had the best visual results while the dropped nucleus/IOL group and subluxated lens-induced glaucoma groups fared poorly. On the long-term follow-up visit, the most common complication noted was pigment dusting on the corneal endothelium (65.7%). Conclusion: The long-term results suggest that posterior IFIOL implantation is a safe and effective method for correction of aphakia and can be used for a wide range of indications in eyes without adequate capsule support. It may be considered an easier and faster alternative with minimal manipulation to anterior segment structures in paediatric and post-traumatic aphakic eyes.

scholarly journals Long-term Follow-up of Pachymetric and Topographic Alterations after Corneal Collagen Cross-Linking for Keratoconus

2012 ◽  
Vol 1 (1) ◽  
pp. 22-25
Author(s):  
Paraskevi G Zotta ◽  
Diamantis D Almaliotis ◽  
George D Kymionis ◽  
Vasilios F Diakonis ◽  
Kostas A Moschou ◽  
...  
Keyword(s):  
Corneal Thickness ◽  
Case Series ◽  
Cross Linking ◽  
Retrospective Case ◽  
Time Intervals ◽  
Long Term Follow Up ◽  
Collagen Cross Linking ◽  
Corneal Collagen

ABSTRACT Purpose To determine the long-term alterations of corneal thickness, along with topographic outcomes, after corneal collagen cross-linking treatment (CXL) for keratoconus. Materials and methods In this retrospective case series, 46 patients (52 eyes), 32 males and 14 females, with progressive keratoconus were included. All eyes underwent CXL in accordance with the standard protocol (Dresden) for the treatment of their ectatic corneal disorder between January 2006 and June 2007. Pachymetric and topographic outcomes were evaluated preoperatively and at 1, 3, 6, 12, 24 and 36 months postoperatively. Results Mean follow-up was 28.08 ± 8.39 months (range, from 12 to 36 months). A statistically significant decline in corneal pachymetric values (at the thinnest location) when compared with preoperative values (467.65 ± 41.08 µm) was demonstrated at 1 (437.63 ± 50.57 µm), 3 (439.08 ± 52.27 µm), 6 (449.37 ± 52.73 µm), 12 (449.63 ± 83.53 µm) and 24 (459.97 ± 47.32 µm) months after CXL (p < 0.05, for all mentioned time intervals). Return to preoperative pachymetric values (469.52 ± 40.52 µm) was revealed 36 months post-CXL (p > 0.05). With respect to topographic (flat and steep keratometric values, keratoconus index), no statistically significant differences between preoperative and all postoperative intervals were found (p > 0.05, for all values for all time intervals). Conclusion Corneal pachymetric values reduce significantly up to 24 months after CXL treatment, while a return to preoperative values was revealed 36 months after the procedure. No significant changes’ concerning topographic outcomes was demonstrated after CXL, indicating stability of these parameters. How to cite this article Zotta PG, Almaliotis DD, Kymionis GD, Diakonis VF, Moschou KA, Karampatakis VE. Long-term Follow-up of Pachymetric and Topographic Alterations after Corneal Collagen Cross-Linking for Keratoconus. Int J Keratoco Ectatic Corneal Dis 2012;1(1):22-25.

scholarly journals Salvage endoscopic resection in patients with esophageal adenocarcinoma after chemoradiotherapy

2018 ◽  
Vol 06 (09) ◽  
pp. E1126-E1129 ◽  
Author(s):  
Irma C. Noordzij ◽  
Wouter L. Curvers ◽  
Clément J. Huysentruyt ◽  
Grard A.P. Nieuwenhuijzen ◽  
Geert-Jan Creemers ◽  
...  
Keyword(s):  
Esophageal Adenocarcinoma ◽  
Endoscopic Resection ◽  
Argon Plasma Coagulation ◽  
Case Series ◽  
Argon Plasma ◽  
Residual Tumor ◽  
Esophageal Resection ◽  
Sustained Remission ◽  
Long Term Prognosis

Abstract Background and study aims For early esophageal adenocarcinoma, endoscopic resection is an accepted curative treatment with an excellent long-term prognosis. Case series from Japan have reported endoscopic resection of residual esophageal squamous cell carcinoma after chemoradiotherapy. This is the first report describing endoscopic resection of residual esophageal adenocarcinoma after chemoradiotherapy. Two patients with advanced esophageal adenocarcinoma had been treated with chemoradiotherapy because comorbidity precluded esophageal resection. When residual tumor was observed endoscopically, complete remission was achieved by salvage endoscopic therapy alone or in combination with argon plasma coagulation (APC). Both patients achieved long-term sustained remission and died of non-tumor-related causes.

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