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https://www.readbyqxmd.com/read/27914124/atypical-neonatal-marfan-syndrome-with-p-glu1073lys-mutation-of-fbn1-the-first-case-in-korea
#1
Ju Sun Heo, Joo Young Song, Eun Young Choi, Eun Hee Kim, Ji Hee Kim, So Eun Park, Ji Hyun Jeon
Neonatal Marfan syndrome (nMFS) is considered to be on the most severe end of the spectrum of type I fibrillinopathies. The common features of nMFS include ascending aortic dilatation, severe mitral and/or tricuspid valve insufficiency, ectopia lentis, arachnodactyly, joint contractures, crumpled ear, loose skin, and pulmonary emphysema.We describe a newborn male diagnosed with nMFS. He presented several atypical features, such as diaphragmatic eventration, severe hydronephrosis with hydroureter, and dilated cisterna magna...
January 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/27912749/whole-exome-sequencing-identifies-a-novel-missense-fbn2-mutation-co-segregating-in-a-four-generation-chinese-family-with-congenital-contractural-arachnodactyly
#2
Xingping Guo, Chunying Song, Yaping Shi, Hongxia Li, Weijing Meng, Qinzhao Yuan, Jinjie Xue, Jun Xie, Yunxia Liang, Yanan Yuan, Baofeng Yu, Huaixiu Wang, Yun Chen, Lixin Qi, Xinmin Li
BACKGROUND: Congenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10,000 worldwide. People with this condition often have permanently bent joints (contractures), like bent fingers and toes (camptodactyly). CASE PRESENTATION: In this study, we investigated the genetic aetiology of CCA in a four-generation Chinese family. The blood samples were collected from 22 living members of the family in the Yangquan County, Shanxi Province, China...
December 3, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27911332/type-0-spinal-muscular-atrophy-further%C3%A2-delineation-of-prenatal-and%C3%A2-postnatal-features-in-16-patients
#3
Sarah Grotto, Jean-Marie Cuisset, Stéphane Marret, Séverine Drunat, Patricia Faure, Séverine Audebert-Bellanger, Isabelle Desguerre, Vincent Flurin, Anne-Gaëlle Grebille, Anne-Marie Guerrot, Hubert Journel, Gilles Morin, Ghislaine Plessis, Sylvain Renolleau, Joëlle Roume, Brigitte Simon-Bouy, Renaud Touraine, Marjolaine Willems, Thierry Frébourg, Eric Verspyck, Pascale Saugier-Veber
BACKGROUND: Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the SMN1 gene. The SMN2 copy number modulates the severity of SMA. The 0SMN1/1SMN2 genotype, the most severe genotype compatible with life, is expected to be associated with the most severe form of the disease, called type 0 SMA, defined by prenatal onset. OBJECTIVE: The aim of the study was to review clinical features and prenatal manifestations in this rare SMA subtype. METHODS: SMA patients with the 0SMN1/1SMN2 genotype were retrospectively collected using the UMD-SMN1 France database...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27909609/emergency-difficult-airway-management-in-a-patient-with-severe-epidermolysis-bullosa
#4
Ahmet Selim Özkan, Gülay Erdoğan Kayhan, Sedat Akbaş, Osman Kaçmaz, Mahmut Durmuş
Epidermolysis bullosa (EB) is a rare disease characterised by vesiculobullous lesions with minimal trauma to the skin and mucous membranes. Bleeding, scar tissue, contractures, oedema and lesions that can spread throughout the body can cause a difficult airway and vascular access in patients with EB. Therefore, anaesthetic management in patients with EB is a major problem even for experienced anaesthesiologists. Herein, we report a case of difficult airway management in a patient diagnosed with severe EB who presented for emergency tracheostomy because of respiratory failure under general anaesthesia...
October 2016: Turkish Journal of Anaesthesiology and Reanimation
https://www.readbyqxmd.com/read/27908709/surgical-intervention-for-oromandibular-dystonia-related-limited-mouth-opening-long-term-follow-up
#5
Kazuya Yoshida
BACKGROUND: Oromandibular dystonia is a movement disorder that is characterized by involuntary masticatory and/or lingual muscle contracture. Jaw closing dystonia, the most common subtype of this condition, can cause trismus and is frequently misdiagnosed as temporomandibular joint disorder or masticatory muscle tendon-aponeurosis hyperplasia. MATERIALS AND METHODS: This report describes the long-term results of 18 patients with limited mouth opening (mean maximal mouth opening: 12...
October 28, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/27906441/ten-years-experience-with-breast-reconstruction-after-salvage-mastectomy-in-previously-irradiated-patients-analysis-of-outcomes-satisfaction-and-well-being
#6
B Cagli, M Barone, E Ippolito, A Cogliandro, S Silipigni, S Ramella, P Persichetti
OBJECTIVE: Reconstruction following mastectomy offers women an opportunity to mollify some of the emotional and aesthetic effects of this devastating disease. PATIENTS AND METHODS: The authors reviewed the files of 83 patients who underwent immediate postmastectomy reconstruction with tissue expander between January of 2003 and June of 2012 at our hospital. The patients were divided into two groups: Group A (study group) included 30 patients with previous quadrantectomy and radiotherapy who underwent salvage mastectomy after local recurrence; Group B (control group) included 53 patients submitted to primary radical mastectomy...
November 2016: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/27906065/dystrophin-deficient-dogs-with-reduced-myostatin-have-unequal-muscle-growth-and-greater-joint-contractures
#7
Joe N Kornegay, Daniel J Bogan, Janet R Bogan, Jennifer L Dow, Jiahui Wang, Zheng Fan, Naili Liu, Leigh C Warsing, Robert W Grange, Mihye Ahn, Cynthia J Balog-Alvarez, Steven W Cotten, Monte S Willis, Candice Brinkmeyer-Langford, Hongtu Zhu, Joe Palandra, Carl A Morris, Martin A Styner, Kathryn R Wagner
BACKGROUND: Myostatin (Mstn) is a negative regulator of muscle growth whose inhibition promotes muscle growth and regeneration. Dystrophin-deficient mdx mice in which myostatin is knocked out or inhibited postnatally have a less severe phenotype with greater total mass and strength and less fibrosis and fatty replacement of muscles than mdx mice with wild-type myostatin expression. Dogs with golden retriever muscular dystrophy (GRMD) have previously been noted to have increased muscle mass and reduced fibrosis after systemic postnatal myostatin inhibition...
April 4, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27905698/bladder-neck-contracture-after-surgery-for-benign-prostatic-obstruction-a-literature-review
#8
Luca Cindolo, Michele Marchioni, Esteban Emiliani, Piergustavo De Francesco, Giulia Primiceri, Pietro Castellan, Luigi Schips
INTRODUCTION: Over the last decades, numerous surgical procedures have been proposed to treat Lower Urinary Tract Symptoms (LUTS) secondary to Benign Prostatic Hyperplasia (BPH). However, all are characterized by a certain rate of treatment failure due to Bladder Neck Contracture (BNC). Treatment of secondary BNC appears to be challenging. The main purpose of this review is to evaluate current published knowledge on this topic. EVIDENCE ACQUISITION: The MEDLINE/Pubmed database was searched for all original articles published between 2000 and 2016 analysing the incidence, prevalence and management of BNC as a post-operative complication following surgical treatment of LUTS/BPH...
December 1, 2016: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
https://www.readbyqxmd.com/read/27904728/reconstruction-of-postburn-contracture-of-the-forefoot-using-the-anterolateral-thigh-flap
#9
Sang Hyun Lee, Sung Jin An, Nu Ri Kim, Um Ji Kim, Jeung Il Kim
BACKGROUND: Severe forefoot deformities, particularly those involving the dorsum of the foot, cause inconvenience in daily activities of living including moderate pain on the dorsal aspect of the contracted foot while walking and difficulty in wearing nonsupportive shoes due to toe contractures. This paper presents clinical results of reconstruction of severe forefoot deformity using the anterolateral thigh (ALT) free flap. METHODS: Severe forefoot deformities were reconstructed using ALT flaps in 7 patients (8 cases) between March 2012 and December 2015...
December 2016: Clinics in Orthopedic Surgery
https://www.readbyqxmd.com/read/27904226/paraplegic-flexion-contracture-of-hip-joints-an-unsolvable-problem
#10
Sailendra Bhattacharyya
Paraplegic flexion contracture of hip joints beyond 90° is a difficult condition to treat for any orthopedic surgeon. There is no fixed protocol of treatment described, by and large it is individualized. A 20 year old female presented with paraplegia for last 15 years due to irrecoverable spinal cord disease with complete sensory and motor loss of both lower extremities and was admitted with acute flexion contracture of both hip joints with trunk resting on thighs. She underwent bilateral proximal femoral resection...
November 2016: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/27904214/results-of-neurolysis-in-established-upper-limb-volkmann-s-ischemic-contracture
#11
Dinesh K Meena, Srikiran Thalanki, Poornima Patni, Ram Khiladi Meena, Dinesh Bairawa, Chirag Bhatia
BACKGROUND: Treatment of established cases of Volkmann's ischemic contracture (VIC) of upper limb is very tedious. Since the period of Volkmann, various experimental works are being performed for its treatment, but none are effective. Disabilities from nerve palsy and hand muscle paralysis are more problematic than any other deformity in VIC. To solve these problems, we conducted a study to see the result of neurolysis of median and ulnar nerve and their subcutaneous placement in established cases of VIC...
November 2016: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/27902637/bilateral-congenital-torticollis-a-case-report-with-25-years-of-follow-up
#12
Lukasz Matuszewski, Damian Pietrzyk, Grzegorz Kandzierski, Michal Wilczynski
Unilateral congenital sternocleidomastoid muscle (SCM) contracture causing torticollis is well known. Although the unilateral muscular torticollis is quite often recognized, a bilateral contracture of SCM muscle is very rare. A review of the literature showed only three cases of bilateral congenital torticollis reported over the last two decades. We present a case report of a boy with congenital bilateral torticollis with 25 years of follow-up. Bilateral tenotomies of the right SCM were performed and the child was immobilized in Schanz's cervical orthosis...
November 29, 2016: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/27902173/escobar-multiple-pterygium-syndrome-multidisciplinary-approach-to-a-very-rare-syndrome
#13
Murat Celal Sözbilen, Hüseyin Günay, Funda Atamaz Çalış
Escobar (multiple pterygium) syndrome is progressive and a very rare syndrome. It is generally characterized by multiple pterygia that are found in the cervical, antecubital and popliteal regions. In this report, we present the treatment management of a 14-year-old case with late stage Escobar syndrome who was admitted due to multiple pterygia and bilateral knee contractures. The treatment of this case was conducted in collaboration with the department of orthopedics and the department of physical therapy. The treatment of the case was done in three stages: soft tissue procedures, femoral recurvatum osteotomy and triple arthrodesis, respectively...
December 2016: Eklem Hastalıkları Ve Cerrahisi, Joint Diseases & related Surgery
https://www.readbyqxmd.com/read/27900442/arthroscopic-revision-release-of-gluteal-muscle-contracture-after-failed-primary-open-surgery
#14
Xintao Zhang, Xiaocheng Jiang, Feilin He, Zuru Liang, Tian You, Dadi Jin, Wentao Zhang
PURPOSE: The treatment of gluteal muscle contracture (GMC) after failed primary open release surgery has rarely been reported in the literature. GMC is a troublesome health problem in some developing countries, and it can result in the limitation of patients' hip function, leading to the development of inferiority complexes. The aim of this study is to evaluate the effect of arthroscopic revision surgery after failed primary open release on patients with GMC. METHODS: A total of 278 hips of 140 patients who underwent arthroscopic revision procedures after failed primary open surgeries were gathered from the department files...
November 29, 2016: International Orthopaedics
https://www.readbyqxmd.com/read/27899787/mcardle-disease-misdiagnosed-as-meningitis
#15
Renata Siciliani Scalco, Sherryl Chatfield, Muhammad Hyder Junejo, Suzanne Booth, Jatin Pattni, Richard Godfrey, Ros Quinlivan
BACKGROUND McArdle disease is a glycogen storage disorder mainly characterized by exercise intolerance. Prolonged muscle contracture is also a feature of this condition and may lead to rhabdomyolysis (RM), which is a serious event characterized by acute skeletal muscle damage.  CASE REPORT A 44-year-old female patient presented with an acute contracture of the posterior neck muscles, causing severe nuchal rigidity. The contracture was induced during a dental extraction as she held her mouth open for a prolonged period, with her neck in a rigid position...
November 30, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27896202/a-band-like-neck-scar-contracture-after-bilateral-axillo-breast-approach-robotic-thyroidectomy
#16
Do Hoon Kwak, Woo Seob Kim, Han Koo Kim, Tae Hui Bae
No abstract text is available yet for this article.
November 2016: Archives of Plastic Surgery
https://www.readbyqxmd.com/read/27896199/botulinum-toxin-and-burn-induces-contracture
#17
Mahmood Omranifard, Morteza Heidari, Ziba Farajzadegan, Mohammad Reza Niktabar, Narges Motamedi
No abstract text is available yet for this article.
November 2016: Archives of Plastic Surgery
https://www.readbyqxmd.com/read/27896182/the-effect-of-sterile-acellular-dermal-matrix-use-on-complication-rates-in-implant-based-immediate-breast-reconstructions
#18
Jun Ho Lee, Youngsoo Park, Kyoung Wook Choi, Kyu-Jin Chung, Tae Gon Kim, Yong-Ha Kim
BACKGROUND: The use of acellular dermal matrix (ADM) in implant-based immediate breast reconstruction has been increasing. The current ADMs available for breast reconstruction are offered as aseptic or sterile. No published studies have compared aseptic and sterile ADM in implant-based immediate breast reconstruction. The authors performed a retrospective study to evaluate the outcomes of aseptic versus sterile ADM in implant-based immediate breast reconstruction. METHODS: Implant-based immediate breast reconstructions with ADM conducted between April 2013 and January 2016 were included...
November 2016: Archives of Plastic Surgery
https://www.readbyqxmd.com/read/27894587/pre-expanded-paraumbilical-perforator-flap
#19
REVIEW
Yuanbo Liu, Mengqing Zang, Shan Zhu, Bo Chen, Qiang Ding
The paraumbilical perforator flap is the first and the most famous perforator flap. Pre-expansion increases the flap dimension and reduces the flap thickness and donor site morbidities, making the paraumbilical perforator flap a more effective option for upper extremity reconstruction. Pre-expanded pedicled paraumbilical perforator flaps can achieve excellent function and aesthetic outcomes in patients with extensive scar contracture and giant melanocytic nevi in the upper extremity. Although this technique requires multiple procures, each operation is relatively simple and has a low complication rate, when properly planned and performed...
January 2017: Clinics in Plastic Surgery
https://www.readbyqxmd.com/read/27894581/pre-expanded-super-thin-skin-perforator-flaps
#20
REVIEW
Chunmei Wang, Sifen Yang, Lee L Q Pu
Patients with severe postburn scar contractures underwent reconstruction of skin defects after scar excision with pre-expanded super-thin skin perforator flaps supplied primarily by perforators via the "bridging effect" from the branches of the adjacent arteries as 2-stage procedures. Pre-expansion is an innovative technique and may improve the anastomoses between subdermal vascular plexuses and extend the supplying area of these vessels to the flap. Such a flap becomes super thin, but with a prefabricated blood supply it can be used for reconstruction of skin defects of the face, neck, or other body part with improved functional and cosmetic outcomes...
January 2017: Clinics in Plastic Surgery
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