scholarly journals Cognitive Improvements in Children with Prader-Willi Syndrome Following Pitolisant Treatment—Patient Reports

2019 ◽  
Vol 24 (2) ◽  
pp. 166-171 ◽  
Author(s):  
Lara C. Pullen ◽  
Maria Picone ◽  
Litjen Tan ◽  
Charles Johnston ◽  
Holger Stark
Keyword(s):  
Daytime Sleepiness ◽  
Therapeutic Option ◽  
Case Series ◽  
Poor Quality ◽  
Inverse Agonist ◽  
Prader Willi Syndrome ◽  
Cognitive Disability ◽  
Patient Reports ◽  
Nighttime Sleep ◽  
Receptor Inverse Agonist

While children with Prader-Willi Syndrome (PWS), a rare genetic disease with an incidence of 1:15,000, typically present with hypotonia and hyperphagia, their lives are made more difficult by an ever-present sleepiness as well as multiple neuro-cognitive dysfunctions, including cognitive defects. We describe a case series of 3 children who were treated with the histamine 3 receptor inverse agonist pitolisant. While this first-in-class inverse agonist is approved for another orphan disease (i.e., narcolepsy with or without cataplexy), we have observed that pediatric patients with PWS prescribed pitolisant demonstrate decreased daytime sleepiness and improved cognition, as evidenced by increased processing speed and improved mental clarity. Pitolisant may represent a novel therapeutic option that might relieve substantial PWS disease burden, including cognitive disability, excessive daytime sleepiness, and poor-quality nighttime sleep.

scholarly journals Volumetric modulated arc therapy (VMAT) for extensive skin field cancerisation (ESFC) – exploring the limits of treatment volumes with a case series of backs

2020 ◽  
Vol 7 (6) ◽  
pp. 184-192
Author(s):  
Bradley Wong ◽  
David Christie ◽  
James Hellyer ◽  
Corinne Henningsen ◽  
Tania Brogmus ◽  
...  
Keyword(s):  
Therapeutic Option ◽  
Volumetric Modulated Arc Therapy ◽  
Case Series ◽  
Sun Exposure ◽  
Invasive Disease ◽  
Poor Quality ◽  
Definitive Treatment ◽  
Retrospective Case ◽  
Arc Therapy ◽  
Field Cancerisation

Skin field cancerisation arises from prolonged sun exposure and increases with age. Multiple areas of the skin can be involved resulting in poor quality of life and cosmesis and even death. The long-term efficacy of traditional treatments such as topical creams is disappointing. Volumetric modulated arc therapy (VMAT) is a relatively new radiation technique that allows the definitive treatment of large convex fields. Extra dose can also be delivered simultaneously using a boost technique to proven areas of macroscopic invasive disease. In what we believe is the first publication of its kind, we present a retrospective case series of 15 patients with 21 areas treated with VMAT to the back. Treatment is feasible but areas of skin cancerisation over 800 cm2 should not be treated in one course but broken into smaller fields separated by adequate breaks. Care should be taken when treating large areas of the spine as pancytopenia may result and routine blood counts between treatment courses should be considered. More research is warranted to confirm the dose and efficacy outcomes, but this technique may represent a new therapeutic option for patients with extensive skin field cancerisation of the back.

scholarly journals Laparoscopic hand-sewn cardioplasty: an alternative procedure for end-stage achalasia

2021 ◽  
Author(s):  
Fátima Senra ◽  
Lalin Navaratne ◽  
Asunción Acosta-Mérida ◽  
Stuart Gould ◽  
Alberto Martínez-Isla
Keyword(s):  
Assessment Tool ◽  
Case Series ◽  
Invasive Procedure ◽  
Lower Oesophageal Sphincter ◽  
Poor Quality ◽  
Motor Disorder ◽  
Reflux Symptom Index ◽  
Symptom Index ◽  
End Stage ◽  
Rescue Procedure

Abstract Background Primary achalasia is a rare oesophageal motor disorder characterized by the absence of swallow-induced relaxation of the lower oesophageal sphincter and diminished or absent oesophageal body peristalsis. Around 5% of these patients will develop end-stage achalasia, where oesophagectomy may be advocated. We present the laparoscopic hand-sewn cardioplasty as an alternative ‘oesophagus-preserving’ procedure in patients with end-stage achalasia. Methods We present a retrospective review of four patients who underwent laparoscopic hand-sewn cardioplasty. Data collected included pre-operative demographic information and investigations; and post-operative outcomes. Patients were scored pre- and post-operatively using Reflux Symptom Index, Eating Assessment Tool-10 and Voice Handicap Index-10 questionnaires. Results Four patients underwent laparoscopic hand-sewn cardioplasty during the study period. In one patient, it was performed as a rescue procedure during attempted myotomy following multiple perforations of friable mucosa. In the other three patients, laparoscopic hand-sewn cardioplasty was performed for end-stage achalasia. None of the patients had post-operative complications and all patients were discharged on the second post-operative day. All patients experienced improvement in swallowing symptoms (EAT-10; p = 0.03) but developed post-operative gastroesophageal reflux. Conclusion To our knowledge, this is the first published case series of laparoscopic hand-sewn cardioplasty for end-stage achalasia. It appears to be a safe and effective procedure for the treatment of end-stage achalasia, offering an alternative minimally invasive procedure to oesophagectomy. Laparoscopic hand-sewn cardioplasty can also be used as a ‘rescue’ procedure during myotomy in patients who have poor-quality mucosa which perforates intra-operatively or is at high risk of perforation/leaking post-operatively.

scholarly journals Narcolepsy Severity Scale: a reliable tool assessing symptom severity and consequences

SLEEP ◽  
2020 ◽  
Vol 43 (6) ◽  
Author(s):  
Yves Dauvilliers ◽  
Lucie Barateau ◽  
Regis Lopez ◽  
Anna Laura Rassu ◽  
Sofiene Chenini ◽  
...  
Keyword(s):  
Daytime Sleepiness ◽  
Age At Onset ◽  
Group Differences ◽  
Diagnosis Delay ◽  
Severity Scale ◽  
The Mean ◽  
Nighttime Sleep ◽  
Self Administered Questionnaire

Abstract Study Objectives To define clinically relevant Narcolepsy Severity Scale (NSS) score ranges, confirm its main performances and sensitivity to medications, and determine whether items need to be weighted. Methods One hundred and forty-three consecutive untreated and 238 treated adults with narcolepsy type 1 (NT1) completed the NSS, a 15-item self-administered questionnaire (score: 0–57) that assesses the severity and consequences of the five major narcolepsy symptoms such as daytime sleepiness, cataplexy, hallucinations, sleep paralysis, and disturbed nighttime sleep (DNS). They also completed the Epworth Sleepiness scale (ESS; daytime sleepiness), Beck Depression Inventory (BDI; depressive symptoms), and EQ5D (quality of life). Results The mean symptom number (4.3 vs 3.5), NSS total score (33.3 ± 9.4 vs 24.3 ± 10.2), and number of narcolepsy symptoms (five symptoms: 53.1% vs 24.8%; four symptoms: 26.6% vs 22.7%; three symptoms: 15.4% vs 32.4%; two symptoms: 4.9% vs 20.2%) were significantly different between untreated and treated patients (p < 0.0001). DNS was often the third symptom (95.5 per cent). The symptom number was associated with diagnosis delay, age at onset, and ESS and BDI scores. Comparisons with ESS, BDI and EQ5D showed that NSS item weighting was not necessary to highlight between-group differences. Four NSS severity levels were defined (mild, moderate, severe, and very severe) with between-group differences related to treatment. The probability of having ESS ≥ 16, BDI ≥ 20, and EQ-5D < 60 increased with the severity level. Conclusion NSS is valid, reliable, and responsive to treatment in patients with NT1, with four clinically relevant severity score ranges provided. NSS has adequate clinimetric properties for broadening its use for both clinic and research.

Tryptophan for the treatment of excessive daytime sleepiness in Prader-Willi Syndrome

2011 ◽  
Vol 48 (4) ◽  
pp. 319-328 ◽  
Author(s):  
Yu Jin Lee ◽  
Shai Marcu ◽  
Glenn Berall ◽  
Colin M. Shapiro
Keyword(s):  
Excessive Daytime Sleepiness ◽  
Daytime Sleepiness ◽  
Prader Willi Syndrome

High specific activity tritiation of the pyridazin-3-one histamine H3 receptor inverse agonist CEP-27088

2012 ◽  
Vol 70 (3) ◽  
pp. 512-514 ◽  
Author(s):  
Joseph R. Andrews ◽  
Crist N. Filer ◽  
Mario Maniscalco ◽  
Nadine C. Becknell ◽  
Robert L. Hudkins
Keyword(s):  
Specific Activity ◽  
High Specific Activity ◽  
Inverse Agonist ◽  
Histamine H3 Receptor ◽  
H3 Receptor ◽  
Receptor Inverse Agonist ◽  
Histamine H3

scholarly journals P2-026: SUVN-G3031, a Potent and Selective H3 Receptor Inverse Agonist: Safety, Tolerability and Pharmacokinetics in Humans

2016 ◽  
Vol 12 ◽  
pp. P618-P619 ◽  
Author(s):  
Gopinadh Bhyrapuneni ◽  
Koteshwara Mudigonda ◽  
Kiran Kumar Penta ◽  
Veera Raghava Chowdary Palacharla ◽  
NageswaraRao Muddana ◽  
...  
Keyword(s):  
Inverse Agonist ◽  
H3 Receptor ◽  
Receptor Inverse Agonist

scholarly journals Ivor–Lewis oesophagogastrectomy with Roux-en-Y duodenal bypass

2016 ◽  
Vol 98 (2) ◽  
pp. 116-120
Author(s):  
J Cartwright ◽  
E Forbat ◽  
A Botha
Keyword(s):  
Gastric Tube ◽  
Case Series ◽  
Poor Quality ◽  
Benign Disease ◽  
Ivor Lewis ◽  
Biliary Diversion ◽  
Complex Reconstruction ◽  
Long Term Result

Oesophagectomies and gastrectomies are performed predominantly for the treatment of malignant disease. However, in this case series, we describe three patients with benign disease who had a laparoscopic oesophagogastrectomy with gastroduodenal detachment and Roux-en-Y biliary diversion, and discuss the operative feasibility and consequent patient outcomes. Our aim was to modify the procedure using an established reconstruction already practised in gastric and bariatric surgery, thereby preventing operative sequelae that lead to a poor quality of life (eg reflux oesophagitis and vomiting). During the first postoperative year, our first two patients experienced weight loss, indigestion and lower bowel symptoms with no apparent improvement in gastric function compared with a standard gastric tube pull-up reconstruction. In the longer term, in both patients, the gastric tube interpositions appeared to function well and there was no evidence of gastro-oesophageal reflux disease, delayed gastric emptying or troublesome indigestion. Our third patient, who had lifelong severe reflux symptoms, was eating normally three months after the operation with no need for antacid medication. We therefore conclude that laparoscopic Ivor–Lewis oesophagogastrectomy with Roux-en-Y bypass is a more complex reconstruction with added risks but may in the long term result in better overall outcomes and satisfaction for patients, particularly those with benign disease.

scholarly journals LATE IMPACT OF THE LAPAROSCOPIC TREATMENT OF DEEP INFILTRATING ENDOMETRIOSIS WITH SEGMENTAL COLORECTAL RESECTION

2018 ◽  
Vol 31 (4) ◽  
Author(s):  
Antonio Matos ROCHA ◽  
Maurício Mendes de ALBUQUERQUE ◽  
Eduardo Miguel SCHMIDT ◽  
Cristiano Denoni FREITAS ◽  
João Paulo FARIAS ◽  
...  
Keyword(s):  
Colorectal Resection ◽  
Positive Impact ◽  
Therapeutic Option ◽  
Case Series ◽  
Laparoscopic Approach ◽  
Deep Infiltrating Endometriosis ◽  
Preoperative Period ◽  
Laparoscopic Treatment ◽  
Bowel Symptoms ◽  
Infiltrating Endometriosis

ABSTRACT Background: Deep infiltrating colorectal endometriosis may severely affect the quality of life and fertility of patients. Although segmental resection is a therapeutic option that provides positive outcomes in the management of symptoms, its functional effects are still unproven. Aim: Assess the late impact of the laparoscopic approach in treating deep infiltrating endometriosis with segmental colorectal resection. Methods: Prospective case series of 46 patients submitted to laparoscopic treatment of deep infiltrating endometriosis with segmental colorectal resection between 2013 and 2016. Fertility, gynecological and bowel symptoms were assessed at the preoperative period and at three and 12 months (or more) after the procedure. Results: Preoperative interview assessed the prevalence of infertility (45.6%), gynecological (87%) and intestinal (80.4%) symptoms. At the third month after the procedure a significant reduction in the prevalence of gynecological symptoms (p<0,001), tenesmus (p=0,001) and dysquesia (p=0,002) was observed. After a period of 12 months or more following the procedure a significant reduction in the prevalence persisted for dysmenorrhea (p=0,001), deep dyspareunia (p=0,041), chronic pelvic pain (p=0,011) and dysquesia (p=0,001), as compared to the preoperative period. Total pregnancy rate was 57.1% and spontaneous pregnancy 47.6%. Conclusion: The treatment of deep infiltrating endometriosis using segmental colorectal resection has provided early and late relief of gynecological and bowel symptoms. The outcomes also indicate a positive impact on the fertility of infertile patients.

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