keyword
https://read.qxmd.com/read/36494820/clinical-and-genetic-characteristics-of-chinese-patients-with-congenital-cranial-dysinnervation-disorders
#1
JOURNAL ARTICLE
Hongyan Jia, Qian Ma, Yi Liang, Dan Wang, Qinglin Chang, Bo Zhao, Zongrui Zhang, Jing Liang, Jing Song, Yidi Wang, Ranran Zhang, Zhanhan Tu, Yonghong Jiao
BACKGROUND: Congenital cranial dysinnervation disorders (CCDDs) are a group of diseases with high clinical and genetic heterogeneity. Clinical examinations combined with Magnetic resonance imaging (MRI) and whole exome sequencing (WES) were performed to reveal the phenotypic and genotypic characteristics in a cohort of Chinese CCDDs patients. RESULTS: A total of 122 CCDDs patients from 96 families were enrolled. All patients showed restrictive eye movements, and 46 patients from 46 families (47...
December 9, 2022: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/33091360/long-term-efficacy-and-safety-of-drug-coated-balloons-versus-drug-eluting-stents-for-small-coronary-artery-disease-basket-small-2-3-year-follow-up-of-a-randomised-non-inferiority-trial
#2
MULTICENTER STUDY
Raban V Jeger, Ahmed Farah, Marc-Alexander Ohlow, Norman Mangner, Sven Möbius-Winkler, Daniel Weilenmann, Jochen Wöhrle, Georg Stachel, Sinisa Markovic, Gregor Leibundgut, Peter Rickenbacher, Stefan Osswald, Marco Cattaneo, Nicole Gilgen, Christoph Kaiser, Bruno Scheller
BACKGROUND: In the treatment of de-novo coronary small vessel disease, drug-coated balloons (DCBs) are non-inferior to drug-eluting stents (DESs) regarding clinical outcome up to 12 months, but data beyond 1 year is sparse. We aimed to test the long-term efficacy and safety of DCBs regarding clinical endpoints in an all-comer population undergoing percutaneous coronary intervention. METHODS: In this prespecified long-term follow-up of a multicentre, randomised, open-label, non-inferiority trial, patients from 14 clinical sites in Germany, Switzerland, and Austria with de-novo lesions in coronary vessels <3 mm and an indication for percutaneous coronary intervention were randomly assigned 1:1 to DCB or second-generation DES and followed over 3 years for major adverse cardiac events (ie, cardiac death, non-fatal myocardial infarction, and target-vessel revascularisation [TVR]), all-cause death, probable or definite stent thrombosis, and major bleeding (Bleeding Academic Research Consortium bleeding type 3-5)...
November 7, 2020: Lancet
https://read.qxmd.com/read/32949299/tendon-elongation-with-bovine-pericardium-in-strabismus-surgery-indications-beyond-graves-orbitopathy
#3
JOURNAL ARTICLE
Andrea Hedergott, Ursula Pink-Theofylaktopoulos, Antje Neugebauer, Julia Fricke
BACKGROUND: For some patients with complex ocular motility disorders, conventional strabismus surgery is insufficient. Surgery with tendon elongation allows correction of larger angles and maintains a sufficient arc of contact for rectus muscles. This study reports results for tendon elongation with bovine pericardium (Tutopatch®) in indications other than Graves' orbitopathy in which it is already widely used. METHODS: We reviewed the records of all patients who underwent surgery with Tutopatch® in our institution...
January 2021: Graefe's Archive for Clinical and Experimental Ophthalmology
https://read.qxmd.com/read/32380860/extracellular-vesicle-species-differentially-affect-endothelial-cell-functions-and-differentially-respond-to-exercise-training-in-patients-with-chronic-coronary-syndromes
#4
JOURNAL ARTICLE
Nicolle Kränkel, Elisabeth Strässler, Madlen Uhlemann, Maja Müller, Sylvie Briand-Schumacher, Roland Klingenberg, P Christian Schulze, Volker Adams, Gerhard Schuler, Thomas F Lüscher, Sven Möbius-Winkler, Ulf Landmesser
BACKGROUND: Extracellular vesicles are released upon cellular activation and mediate inter-cellular communication. Individual species of extracellular vesicles might have divergent roles in vascular homeostasis and may show different responses to therapies such as exercise training. AIMS: We examine endothelial effects of medium-size and small extracellular vesicles from the same individual with or without chronic coronary syndrome, and in chronic coronary syndrome patients participating in a four-week high-intensity interval training intervention...
May 7, 2020: European Journal of Preventive Cardiology
https://read.qxmd.com/read/32055264/imaging-findings-in-m%C3%A3-bius-poland-syndrome
#5
Vincent G Parenti, Xiaozhou Liu, Akshita Mehta, Rithvik Malireddy, Lydia A Sutherlun, Cory M Pfeifer
Poland syndrome refers to a chest wall disorder in which there is a deficiency of the pectoral musculature. Möbius syndrome is a rare disorder in which there is absence or hypoplasia of the facial or abducens nerve, either unilaterally or bilaterally. Described here is a case in a newborn male in which both conditions manifest simultaneously as Poland-Möbius syndrome. The imaging findings here serve as a useful guide for the radiologist and ordering providers by reinforcing the need for dedicated cranial nerve imaging in patients who have deficiencies in anterior chest wall musculature...
April 2020: Radiology Case Reports
https://read.qxmd.com/read/31993736/drug-coated-balloon-versus-drug-eluting-stent-in-small-coronary-artery-lesions-angiographic-analysis-from-the-basket-small-2-trial
#6
RANDOMIZED CONTROLLED TRIAL
Gregor Fahrni, Bruno Scheller, Michael Coslovsky, Nicole Gilgen, Ahmed Farah, Marc-Alexander Ohlow, Norman Mangner, Daniel Weilenmann, Jochen Wöhrle, Florim Cuculi, Gregor Leibundgut, Sven Möbius-Winkler, Robert Zweiker, Raphael Twerenbold, Christoph Kaiser, Raban Jeger
BACKGROUND: The randomized BASKET-SMALL 2 trial showed non-inferiority for treatment with drug-coated balloon (DCB) compared with drug-eluting stents (DES) in patients undergoing percutaneous coronary intervention (PCI) for de novo lesions in small coronary arteries regarding clinical endpoints at 1 year. In this predefined substudy, we investigated the angiographic findings in patients undergoing a clinically indicated follow-up angiography during the study phase. METHODS: Eight-hundred and eighty-three patients underwent PCI with either DES or DCB in a culprit vessel < 3 mm in diameter for stable coronary artery disease or acute coronary syndrome...
September 2020: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
https://read.qxmd.com/read/31927149/associated-syndromes-in-patients-with-pierre-robin-sequence
#7
JOURNAL ARTICLE
Peter Karempelis, Mitchell Hagen, Noelle Morrell, Brianne Barnett Roby
OBJECTIVES: Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft palate. Current literature reports that Stickler syndrome is the most common syndrome associated with PRS, and 22q11 deletion syndrome (22q11 DS) as the second most common. This study identifies associations between PRS and genetic syndromes. METHODS: A retrospective chart review was performed to identify patients diagnosed with PRS over a 10-year period from 4/1/2007 to 4/1/2017 at a tertiary children's hospital...
April 2020: International Journal of Pediatric Otorhinolaryngology
https://read.qxmd.com/read/31488755/mobius-syndrome-and-obsessive-compulsive-disorder-a-case-report
#8
JOURNAL ARTICLE
Denis Jacque, Michel Ossemann, Jean-Marc Timmermans, Nicolas Zdanowicz, Thomas Dubois
BACKGROUND: Mobius syndrome is characterized by a bilateral congenital paralysis of the facial and abducens nerves which leaves the subject with an expressionless "mask-like" face. SUBJECTS AND METHODS: Based on a literature review and a case discussion of an adult patient with Mobius syndrome and obsessive-compulsive disorder, initially undiagnosed and confused with a psychotic disorder, we will discuss the influence of Mobius syndrome in psychiatric evaluations...
September 2019: Psychiatria Danubina
https://read.qxmd.com/read/31175417/bilateral-facial-paralysis-as-a-rare-neurological-manifestation-of-primary-sj%C3%A3-gren-s-syndrome-case-based-review
#9
REVIEW
Zhang Wei, Shi Jiaying, Guo Junhong
Primary Sjögren's syndrome (pSS) is a chronic autoimmune disorder associated with a variety of systemic presentations. Varied neurological dysfunctions of newly diagnosed adult patients with pSS have been observed in recent years. We aimed to describe a rare case of acute bilateral facial paralysis diagnosed with pSS for the first time and review the previous studies including similar cases. A 69-year-old female, who had experienced ocular and oral dryness for more than 10 years, presented with bilateral facial palsy...
September 2019: Rheumatology International
https://read.qxmd.com/read/31031024/characterization-of-hand-anomalies-associated-with-m%C3%A3-bius-syndrome
#10
JOURNAL ARTICLE
Daniel M Koehler, Charles A Goldfarb, Alison Snyder-Warwick, Summer Roberts, Lindley B Wall
PURPOSE: To investigate the distinguishing morphological characteristics of the upper extremities in children with Möbius syndrome. METHODS: Twenty-seven involved extremities in 14 patients with a diagnosis of Möbius syndrome were identified at 2 institutions. Medical records, radiographs, and clinical photographs were evaluated. Congenital hand differences were classified according to the Oberg, Manske, and Tonkin classification, and hands with symbrachydactyly were classified by the Blauth and Gekeler classification...
July 2019: Journal of Hand Surgery
https://read.qxmd.com/read/30817662/segmental-gracilis-muscle-transplantation-for-midfacial-animation-in-m%C3%A3-bius-syndrome-a-29-year-experience
#11
JOURNAL ARTICLE
Mélissa Roy, Erin Klar, Emily S Ho, Ronald M Zuker, Gregory H Borschel
BACKGROUND: Möbius syndrome is a complex congenital disorder of unclear cause involving multiple cranial nerves and typically presenting with bilateral facial and abducens nerves palsies. At The Hospital for Sick Children, Toronto, Ontario, Canada, microneurovascular transfer of free-muscle transplant is the procedure of choice for midfacial animation. The primary aim of this study was to investigate surgical outcomes of the procedure in terms of complications, secondary revisions, and smile excursion gains...
March 2019: Plastic and Reconstructive Surgery
https://read.qxmd.com/read/30567196/m%C3%A3-bius-syndrome-associated-with-obesity-and-precocious-puberty
#12
JOURNAL ARTICLE
Samantha Roshani De Silva, Sally L Painter, Darius Hildebrand
Möbius syndrome is a neurological disorder involving underdevelopment of the sixth and seventh cranial nerves. Multiple associations have been described including dysfunction of other cranial nerves, limb abnormalities and hypogonadotrophic hypogonadism causing delayed puberty. We present the second reported case of Möbius syndrome associated with obesity and with precocious puberty. These features may be secondary to dysregulation of the hypothalamic-pituitary axis. We highlight the need to consider extraocular symptoms in these patients and for close liaison with physicians in their management...
December 7, 2018: BMJ Case Reports
https://read.qxmd.com/read/30457506/evaluation-of-moebius-syndrome-with-hand-manifestations
#13
JOURNAL ARTICLE
Bekir Eray Kilinc, Philip McClure, Lesley Butter, Scott Oishi
Moebius Syndrome (MS) is characterized by congenital paralysis of the 6th and 7th cranial nerves, sometimes combined with deficits in cranial nerves and with limb anomalies. We reported that identifying common upper extremity orthopedic manifestations of this syndrome would asist physicians who care for affected patients to promtly establish a dignosis and treatment plan. Our internal medical record system was queried and a keyword search for "Möbius/Moebius Syndrome" was conducted. The clinical data collected for each patient consisted of age at diagnosis, date of first and date of final follow-up, treatment type, treatment duration, and complications from treatment...
March 2018: Acta Orthopaedica Belgica
https://read.qxmd.com/read/30213206/regarding-maxillary-impaction-for-the-treatment-of-labial-incompetence-in-mobius-syndrome
#14
LETTER
Travis L Gibson
No abstract text is available yet for this article.
May 2019: Cleft Palate-craniofacial Journal
https://read.qxmd.com/read/30180412/-four-cases-of-mobius-syndrome
#15
JOURNAL ARTICLE
X Y Yang, H S Wu, C H Ding
No abstract text is available yet for this article.
September 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://read.qxmd.com/read/29668505/comparison-of-functional-results-after-cross-face-nerve-graft-spinal-accessory-nerve-and-masseter-nerve-innervated-gracilis-for-facial-paralysis-reconstruction-the-chang-gung-experience
#16
COMPARATIVE STUDY
David Chwei-Chin Chuang, Johnny Chuieng-Yi Lu, Tommy Nai-Jen Chang, Vincent G Laurence
BACKGROUND: Using functioning free muscle transplantation (FFMT) for facial paralysis and postparalysis facial synkinesis reconstruction is our preferred technique. Gracilis was the first choice of muscle. Three motor neurotizers: cross-face nerve graft (CFNG), spinal accessory nerve (XI) and masseter nerve (V3) have been used as neurotizers for different indications. METHODS: A total of 362 cases of facial reanimation with FFMT were performed between 1986 and 2015...
December 2018: Annals of Plastic Surgery
https://read.qxmd.com/read/29643789/alternating-hypotropia-with-pseudoptosis-a-new-phenotype-of-congenital-cranial-dysinnervation-disorder
#17
JOURNAL ARTICLE
Fady Sedarous, Toby Y B Chan, Inas Makar
Congenital cranial dysinnervation disorders, also known as CCDDs, are characterized by aberrant innervation to extraocular and facial muscles resulting in unusual forms of incomitant strabismus. Anomalous innervation to extraocular muscles can result in a wide variety of phenotypes causing various clinical conditions such as Duane syndrome, congenital fibrosis of the extraocular muscles, and Möbius syndrome. We report a case of bilateral dysinnervation disorder causing atypical ocular movements in both eyes as the patient changes fixation from one eye to the other and from right gaze to left gaze that fits with the wider diagnosis of CCDDs...
January 2018: Case Reports in Ophthalmology
https://read.qxmd.com/read/29579019/long-term-outcomes-of-smile-reconstruction-in-m%C3%A3-bius-syndrome
#18
JOURNAL ARTICLE
Irina Domantovsky, Jocelyne Copeland, Rachel M Clancy, Ronald M Zuker, Gregory H Borschel
BACKGROUND: Gracilis muscle transplant is the standard of care for smile reconstruction in children with Möbius syndrome. The authors describe the long-term clinical efficacy, durability, and psychosocial impact of this approach at a mean follow-up of 20 years. METHODS: Patients with Möbius syndrome who underwent gracilis muscle transfer between 1985 and 2005 were included in the study. The authors assessed midfacial movements using photographs and Scaled Measurement of Improvement in Lip Excursion measure, administered the patient-reported Facial Clinimetric Evaluation Scale, and used semistructured interviews...
June 2018: Plastic and Reconstructive Surgery
https://read.qxmd.com/read/29533695/labial-incompetence-in-mobius-syndrome-lefort-i-impaction-case-report-and-review-of-management-strategies
#19
REVIEW
Elbert E Vaca, Sergey Y Turin, Arun K Gosain
Difficulty with speech intelligibility in Mobius syndrome patients due to bilabial incompetence is common yet rarely discussed. We present a patient with Mobius syndrome who underwent counterclockwise LeFort I impaction to improve her labial competence. In addition, we present a literature review of management strategies for labial incompetence correction in Mobius patients. At 7-year follow-up after LeFort 1 impaction, the patient reports improvement in speech intelligibility, specifically regarding the ability to pronounce bilabial consonants...
October 2018: Cleft Palate-craniofacial Journal
https://read.qxmd.com/read/29527709/drug-coated-balloons-for-de-novo-lesions-in-small-coronary-arteries-rationale-and-design-of-basket-small-2
#20
RANDOMIZED CONTROLLED TRIAL
Nicole Gilgen, Ahmed Farah, Bruno Scheller, Marc-Alexander Ohlow, Norman Mangner, Daniel Weilenmann, Jochen Wöhrle, Peiman Jamshidi, Gregor Leibundgut, Sven Möbius-Winkler, Robert Zweiker, Florian Krackhardt, Christian Butter, Leonhard Bruch, Christoph Kaiser, Andreas Hoffmann, Peter Rickenbacher, Christian Mueller, Frank-Peter Stephan, Michael Coslovsky, Raban Jeger
The treatment of coronary small vessel disease (SVD) remains an unresolved issue. Drug-eluting stents (DES) have limited efficacy due to increased rates of instent-restenosis, mainly caused by late lumen loss. Drug-coated balloons (DCB) are a promising technique because native vessels remain structurally unchanged. Basel Stent Kosten-Effektivitäts Trial: Drug-Coated Balloons vs. Drug-Eluting Stents in Small Vessel Interventions (BASKET-SMALL 2) is a multicenter, randomized, controlled, noninferiority trial of DCB vs DES in native SVD for clinical endpoints...
May 2018: Clinical Cardiology
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