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https://www.readbyqxmd.com/read/29150902/wieacker-wolff-syndrome-with-associated-cleft-palate-in-a-female-case
#1
Natalie D Godfrey, Samandar Dowlatshahi, Madelena M Martin, Douglas M Rothkopf
Wieacker-Wolff syndrome is a rare congenital syndrome with few reported cases in the current literature. It is traditionally described in males as an X-linked recessive disorder associated with congenital contractures of the feet, progressive neurologic muscular atrophy, and intellectual delay caused by ZC4H2 mutations. The purpose of this paper is to present a female individual with a classic phenotype and cleft palate, a previously undescribed finding in this syndrome. Recent reports have demonstrated that females are rarely severely affected and phenotypic expression is difficult to predict [Zanzottera et al...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29144050/fibroadipose-vascular-anomaly-treated-with-sirolimus-successful-outcome-in-two-patients
#2
Jonathan Erickson, William McAuliffe, Lewis Blennerhassett, Anne Halbert
Fibroadipose vascular anomaly (FAVA) is a rare, complex mesenchymal malformation combining fibrofatty replacement of the affected muscles and slow-flow vascular malformation. The condition is characterized by localized swelling, severe pain, phlebectasia, and contracture of the affected limb. Treatment paradigms are not well established for this rare, recently recognized condition. We report two cases of FAVA in which treatment with sirolimus produced rapid, dramatic improvement in pain and quality of life.
November 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/29142785/role-of-cord-blood-and-bone-marrow-mesenchymal-stem-cells-in-recent-deep-burn-a-case-control-prospective-study
#3
Wael Abo-Elkheir, Fawzy Hamza, Ahmed M Elmofty, Atef Emam, Magdy Abdl-Moktader, Sameh Elsherefy, Hala Gabr
RATIONALE: Burn injuries represent one of the major worldwide public health problems causing more severe physiological stress than other traumas. Effective treatment of burn injuries is mandatory to prevent the numerous life-threatening complications and possible disabilities. Stem cells, a population of multipotent cells retaining the properties of self-renewal and differentiation, are the main player in tissue regeneration after major trauma. Thus, they are thought to play a key role in wound healing inducing efficient and physiological skin regeneration...
2017: American Journal of Stem Cells
https://www.readbyqxmd.com/read/29137581/evidence-of-malignant-hyperthermia-in-patients-administered-triggering-agents-before-malignant-hyperthermia-susceptibility-identified-missed-opportunities-prior-to-diagnosis
#4
T Y Chan, T F Bulger, K M Stowell, R L Gillies, E E Langton, N E Street, N A Pollock
Malignant hyperthermia (MH) is a hypermetabolic disorder of skeletal muscle triggered almost exclusively by potent inhalational agents and suxamethonium. Signs of an MH reaction are non-specific and may be confused with the presentation of other problems such as sepsis and overheating of a patient. A high index of suspicion is needed to be aware of an early presentation of MH. Nine patients are presented who showed abnormal signs with an earlier anaesthetic where the possible diagnosis of an MH reaction was missed...
November 2017: Anaesthesia and Intensive Care
https://www.readbyqxmd.com/read/29135893/inhibition-of-skin-wound-contraction-by-nanofibrillar-cellulose-hydrogel
#5
Kristo Nuutila, Antti Laukkanen, Andrew Lindford, Susanna Juteau, Markus Nuopponen, Jyrki Vuola, Esko Kankuri
BACKGROUND: Although wound contraction is an essential part of healing, excessive contraction can compromise healing through induction of scarring and fibrosis. This in turn leads to development of wound contractures that limit elasticity and function. Major research efforts have focused on development of novel therapeutic approaches to gain inhibitory control over wound contraction. Despite these efforts, the need for cost-effective, clinically feasible and effective agents to inhibit wound contraction remains...
November 8, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29132416/distinct-functional-consequences-of-ecel1-dine-missense-mutations-in-the-pathogenesis-of-congenital-contracture-disorders
#6
Kenichi Nagata, Mika Takahashi, Sumiko Kiryu-Seo, Hiroshi Kiyama, Takaomi C Saido
Endothelin-converting enzyme-like 1 (ECEL1, also termed DINE in rodents), a membrane-bound metalloprotease, has been identified as a gene responsible for distal arthrogryposis (DA). ECEL1-mutated DA is generally characterized by ocular phenotypes in addition to the congenital limb contractures that are common to all DA subtypes. Until now, the consequences of the identified pathogenic mutations have remained incompletely understood because of a lack of detailed phenotypic analyses in relevant mouse models. In this study, we generated a new knock-in mouse strain that carries an ECEL1/DINE pathogenic G607S missense mutation, based on a previous study reporting atypical DA hindlimb phenotypes in two siblings with the mutation...
November 13, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29124288/the-medial-tibial-joint-line-elevation-over-5%C3%A2-mm-restrained-the-improvement-of-knee-extension-angle-in-unicompartmental-knee-arthroplasty
#7
Koji Takayama, Kazunari Ishida, Hirotsugu Muratsu, Yuichi Kuroda, Masanori Tsubosaka, Shingo Hashimoto, Shinya Hayashi, Takehiko Matsushita, Takahiro Niikura, Ryosuke Kuroda, Tomoyuki Matsumoto
PURPOSE: The purpose of this study was to examine the relationship between medial tibial joint line elevation and the improvement of range of motion (ROM) in unicompartmental knee arthroplasty (UKA). The hypothesis was that limited elevation of tibial joint line will improve knee range of motion in UKA. METHODS: Forty-six consecutive medial UKAs were enrolled in this study. Medial tibial joint line elevation was defined as the polyethylene insert and tibial tray thickness minus the tibial osteotomy and sawblade thickness...
November 9, 2017: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/29123865/a-case-of-tetanus-treated-with-kampo-medicines-such-as-kakkonto-and-shakuyakukanzoto
#8
Hajime Nakae, Yuri Saito, Manabu Okuyama, Toshiko Igarashi
Case: A 74-year-old man developed tetanus 3 days after working with cow and poultry manure. Kakkonto and shakuyakukanzoto, traditional Japanese herbal medicines that are effective for the relief of pain primarily related to muscle contraction, were given to control the trismus and painful contracture of the neck. Generalized convulsions were controlled without the use of muscle relaxants. Outcome: After 30 days, the patient was discharged from the hospital without any sequelae...
April 2017: Acute Medicine & Surgery
https://www.readbyqxmd.com/read/29119592/orthopedic-complications-of-linear-morphea-implications-for-early-interdisciplinary-care
#9
REVIEW
Jennifer J Schoch, Bradley S Schoch, Jean David Werthel, Amy L McIntosh, Dawn M R Davis
Linear morphea of the limb primarily affects children, and extracutaneous manifestations are common. Orthopedic surgeons are often essential in the care of patients with linear morphea, yet there are few reports outlining specific orthopedic complications in this population. We sought to improve the understanding of orthopedic complications in linear morphea of the limb. Between 1999 and 2014, 51 children were evaluated for linear morphea of an extremity. Twenty-six (51%) had documented orthopedic manifestations...
November 9, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/29114110/the-diagnosis-of-obstructive-hydronephrosis-with-color-doppler-ultrasound
#10
Petrit Nuraj, Nexhmi Hyseni
Background: The obstructive hydronephrosis is a term that implicates the structural and functional changes of the kidneys as a result of difficulties in the flow of urine. Hydronephrosis specifically describes dilation and swelling of the kidney. Hydronephrosis is a condition that typically occurs when the kidney swells due to the failure of normal drainage of urine from the kidney to the bladder. Our aim was to evaluate the degree of hydronephrosis, causes and diagnostic method. Material and...
September 2017: Acta Informatica Medica: AIM
https://www.readbyqxmd.com/read/29112966/lengthening-of-knee-flexor-muscles-by-percutaneous-needle-tenotomy-description-of-the-technique-and-preliminary-results
#11
Alexis Schnitzler, François Genêt, Aurélie Diebold, Laurence Mailhan, Claire Jourdan, Philippe Denormandie
BACKGROUND: Knee flexion contractures occur frequently in non-ambulatory, aged persons and persons with central nervous system lesions, rendering positioning and nursing care difficult. There are often risks associated with surgical interventions. OBJECTIVE: To evaluate the effectiveness of percutaneous needle tenotomy to lengthen the knee flexor muscles and improve passive function. METHODS: This was a retrospective study of all patients who underwent percutaneous needle tenotomy between 2012 and 2014...
2017: PloS One
https://www.readbyqxmd.com/read/29110725/tendon-split-lengthening-technique-for-flexor-hallucis-longus-tendon-rupture
#12
Jae Yong Park, Chenyu Wang, Hee Dong Kim, Hyong Nyun Kim
BACKGROUND: Flexor hallucis longus (FHL) tendon rupture is a challenging injury to lead with clawing of the great toe when the FHL tendon is repaired too tight. When the diagnosis is delayed, the tendon ends may not be opposable because of contracture or poor tendon tissue. METHODS: A technique to reconstruct FHL tendon rupture without a free tendon graft is described. A split tendon lengthening is performed at the midfoot around the knot of Henry. Ankle block anesthesia is used to allow the patient's active movement of the interphalangeal (IP) joint to determine the appropriate length of the reconstructed tendon for maintaining balance and preventing the tendon from being too tight or too loose...
November 6, 2017: Journal of Orthopaedic Surgery and Research
https://www.readbyqxmd.com/read/29110572/tracheostomy-as-a-comfort-measure-in-children-with-life-limiting-conditions
#13
Valerie Marshall, Francesca Holt, Suzanne Crowe
Palliative care for children who can expect only a short life has expanded over the last decade. Greater understanding of the measures required to ensure comfort and acceptable quality of life within the critical care environment has grown in tandem. Some more invasive interventions may be considered a "step too far" by some practitioners, including feeding gastrostomy, contracture release, and tracheostomy. Tracheostomy can facilitate a number of measures, which may enhance the brief life of the child and their family...
January 1, 2017: Journal of Palliative Care
https://www.readbyqxmd.com/read/29110314/post-irradiation-morphoea-of-the-breast-a-case-report-and-review-of-the-literature
#14
Paula I Gonzalez-Ericsson, Monica V Estrada, Rami Al-Rohil, Melinda E Sanders
We describe a 44-year-old female with triple-negative breast cancer who developed skin erythaema, sclerosis and contracture of her entire right breast 15 months after completion of post-lumpectomy chemotherapy and radiotherapy, consistent with post-irradiation morphoea (PIM). PIM is a rare complication of breast irradiation that impairs a patient's quality of life. PIM is located usually at the radiation port or in the surrounding tissue. Clinically, PIM is misdiagnosed commonly as lymphoedema and cellulitis in the early inflammatory phase, and recurrent breast cancer, chronic radiodermatitis (CRD), radiation-induced fibrosis (RIF), post-irradiation pseudosclerodermatous panniculitis (PIPP), atypical vascular lesions (AVL) or angiosarcoma (AS) in the late burnout phase...
August 14, 2017: Histopathology
https://www.readbyqxmd.com/read/29109129/histopathological-nature-of-myofascial-trigger-points-at-different-stages-of-recovery-from-injury-in-a-rat-model
#15
Hui Zhang, Jiao-Jiao Lü, Qiang-Min Huang, Lin Liu, Qing-Guang Liu, Opoku-Antwi Eric
OBJECTIVE: To investigate the histopathological nature of myofascial trigger points (MTrPs) or spots (MTrSs) at different stages of recovery from injury in arat model. METHODS: Forty Sprague-Dawley rats were randomly divided into two groups: a control group (CG) and experimental group (EG). The CG was further randomly subdivided into CG1 and CG2 subgroups. The CG2 was used for palpating the taut band and CG1 as a blank. EG was subdivided into three groups according to recovery times: 4 weeks (4W), 8 weeks (8W) and 12 weeks (12W); these groups consisted of eight rats each...
November 6, 2017: Acupuncture in Medicine: Journal of the British Medical Acupuncture Society
https://www.readbyqxmd.com/read/29108116/arthritis-in-melorheostosis-an-uncommon-feature-in-a-rare-disease
#16
Enrico Selvi, Marco Bardelli, Giacomo Maria Guidelli
A 53-year-old male developed left knee and left ankle arthritis associated with marked induration of the skin and soft tissues distal to the knees. The left knee was swollen, tender, and with a non-reducible contracture and similarly the left ankle and the subtalar joint were stiff and moderately swollen. In addition, diffuse, bluish, small vascular ectasia, hypertrichosis and skin pigmentation of the affected sites were evident (fig1). These symptoms began 20 years before and the patient had been diagnosed with eosinophilic fasciitis and treated with daily prednisone leading to partial improvement of the symptoms, but not of the knee deformity and soft tissue induration...
November 6, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29107381/circumferential-adipofascial-graft-for-prevention-of-recurrence-of-posttraumatic-radioulnar-synostosis
#17
REVIEW
Michael Wigton, Megan Friend, Zhongyu Li
Radioulnar synostosis can cause substantial loss of function, and surgical treatment can be challenging. Recurrence of the contracture related to scar or reformation of the synostosis is problematic. Several techniques have been described for prevention of recurrence. We present a technique utilizing a free wrap around adipofascial graft for interposition and circumferential coverage of the ulna after resection of the heterotopic bone. We believe this technique has the advantages of technical simplicity, secure interposition, and reliable outcomes...
October 26, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/29104787/does-asymptomatic-prostatic-inflammation-alter-the-outcome-of-transurethral-resection-of-prostate
#18
Anuj Deep Dangi, Ramya Nagarajan, Arabind Panda, Ramani Manoj Kumar, Antony Devasia, Nitin Kekre
Introduction: There is contradictory evidence in literature with respect to the association of asymptomatic prostatic inflammation on biopsy with complications of Transurethral Resection of Prostate. The aim of the present study was to evaluate the association of prostatitis in biopsy specimens of patients undergoing transurethral resection of prostate with bladder neck contracture (the primary end point) and other complications. Material and methods: Patients who had undergone transurethral resection at a single centre between 2005 and 2010, with a minimum of 3 months follow-up were included...
2017: Central European Journal of Urology
https://www.readbyqxmd.com/read/29104234/dupuytren-s-and-ledderhose-diseases-in-a-family-with-lmna-related-cardiomyopathy-and-a-novel-variant-in-the-aste1-gene
#19
Michael V Zaragoza, Cecilia H H Nguyen, Halida P Widyastuti, Linda A McCarthy, Anna Grosberg
Dupuytren's disease (palmar fibromatosis) involves nodules in fascia of the hand that leads to flexion contractures. Ledderhose disease (plantar fibromatosis) is similar with nodules of the foot. While clinical aspects are well-described, genetic mechanisms are unknown. We report a family with cardiac disease due to a heterozygous LMNA mutation (c.736C>T, p.Gln246Stop) with palmar/plantar fibromatosis and investigate the hypothesis that a second rare DNA variant increases the risk for fibrotic disease in LMNA mutation carriers...
November 1, 2017: Cells
https://www.readbyqxmd.com/read/29103824/modified-anterolateral-approach-for-internal-fixation-of-holstein-lewis-humeral-shaft-fractures
#20
Ho Min Lee, Young Sung Kim, Suk Kang, Min Young Lee, Jong Pil Kim
BACKGROUND: The authors modified the anterolateral approach for Holstein-Lewis humeral shaft fractures using a plating technique to achieve sufficient distal fixation by minimal splitting of the brachioradialis muscle to fix the most distal screws. The purpose of this retrospective study was to evaluate the efficacy of our modified anterolateral approach for Holstein-Lewis humeral fractures and document clinical and functional results. MATERIALS AND METHODS: Between 2008 and 2014, 18 patients (mean age 35...
November 2, 2017: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
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