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https://www.readbyqxmd.com/read/28919208/genetics-of-clubfoot-recent-progress-and-future-perspectives
#1
REVIEW
Sulman Basit, Khalid I Khoshhal
Clubfoot or talipes equinovarus (TEV) is an inborn three-dimensional deformity of leg, ankle and foot. It results from structural defects of several tissues of foot and lower leg leading to abnormal positioning of foot and ankle joints. TEV can lead to long-lasting functional disability, malformation and discomfort if left untreated. Substantial progress has been achieved in the management and diagnosis of limb defects; however, not much is known about the molecular players and signalling pathways underlying TEV disorder...
September 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28917238/qualitative-study-of-eating-habits-in-bruneian-primary-school-children
#2
Tajidah Talip, Rajiah Serudin, Salmah Noor, Nik Tuah
BACKGROUND AND OBJECTIVES: Childhood obesity is a serious public health issue globally and poor eating habits are an important contributing factor. This study aimed to explore the perceptions, practices and attitudes towards healthy eating in Bruneian primary school children. METHODS AND STUDY DESIGN: A qualitative study was conducted among 40 subjects involving 18 children (aged 9-10 years old), 12 parents and 10 teachers, who were recruited from two primary schools using convenience sampling...
2017: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28892975/caudal-regression-syndrome-with-pressure-ulcers-of-the-foot-a-case-report
#3
Kosaku Yamamichi, Tsuyoshi Manabe, Tatsuya Uekihara
Caudal Regression Syndrome (CRS) is a rare disorder which consists of abnormalities in the lumbosacral spine, rectum, urinary system and lower limbs. These abnormalities also include orthopaedic deformities, such as hip dislocation, knee-flexion contracture with popliteal webbing and talipes equinovarus. Because of the rarity of this condition, few medical personnel are aware of it. Here, we present a case of CRS in a 15-year-old girl with pressure ulcers on the lateral malleolus and plantar surface of the foot, which had come into contact with the wheelchair footrest...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28879597/prenatal-congenital-vertical-talus-rocker-bottom-foot-a-marker-for-multisystem-anomalies
#4
Eva I Rubio, Nimisha Mehta, Anna R Blask, Dorothy I Bulas
BACKGROUND: Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. OBJECTIVE: The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding...
September 6, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28870053/-domestic-external-fixator-application-in-the-treatment-of-limb-deformities-7-289-cases-application-report
#5
S H Qin, B F Guo, X J Zheng, S F Jiao, H T Xia, A M Peng, Q Pan, J C Zang, Z J Wang
Objective: To discuss the clinical application and effects of domestic external fixator in the treatment of patients with malformations of limbs. Methods: A total of 7 289 patients with malformation of limbs who had been operated in Qin Sihe orthopedic surgery team from January 1989 to June 2016 were retrospective analyzed. The patients were treated with domestic external fixator, including 4 033 males and 3 256 females, aging from 2 to 82 years with a mean age of 23.4 years. There were 2 732 patients using Ilizarov external fixator, 4 713 patients using hybrid external fixator, 57 patients using monobrachial external fixator, 232 patients using Ilizarov external fixator and hybrid external fixator...
September 1, 2017: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://www.readbyqxmd.com/read/28869276/amniocentesis-and-chorionic-villus-sampling-for-prenatal-diagnosis
#6
REVIEW
Zarko Alfirevic, Kate Navaratnam, Faris Mujezinovic
BACKGROUND: During pregnancy, fetal cells suitable for genetic testing can be obtained from amniotic fluid by amniocentesis (AC), placental tissue by chorionic villus sampling (CVS), or fetal blood. A major disadvantage of second trimester amniocentesis is that the results are available relatively late in pregnancy (after 16 weeks' gestation). Earlier alternatives are chorionic villus sampling (CVS) and early amniocentesis, which can be performed in the first trimester of pregnancy. OBJECTIVES: The objective of this review was to compare the safety and accuracy of all types of AC (i...
September 4, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28815843/ilizarov-technique-and-limited-surgical-methods-for-correction-of-post-traumatic-talipes-equinovarus-in-children
#7
Xiao Jian Wang, Feng Chang, Yunxing Su, Bin Chen, Jie-Fu Song, Xiao-Chun Wei, Lei Wei
BACKGROUND: The objective of this study was to evaluate the efficacy and safety of using Ilizarov invasive distraction technique combined with limited surgical operations in the treatment of post-traumatic talipes equinovarus in children. METHODS: Eighteen cases of post-traumatic deformed feet in 15 patients who received the treatment of Ilizarov frame application, limited soft-tissue release or osteotomy were selected in this study. After removal of the frame, an ankle-foot orthosis was used continuously for another 6-12 months...
August 16, 2017: ANZ Journal of Surgery
https://www.readbyqxmd.com/read/28815338/prolonged-hypotension-after-carotid-artery-stenting-incidence-predictors-and-consequences
#8
Elif Gökçal, Elvin Niftaliyev, Çiğdem Deniz, Mehmet Ergelen, Vildan Güzel, Ömer Göktekin, Talip Asil
BACKGROUND: Hemodynamic changes frequently occur after carotid artery stenting (CAS), and in some patients these changes, particularly hypotension, may be prolonged. There are discrepant results for predicting patients at high risk for these prolonged hemodynamic changes and identifying the effect on clinical outcome. In this study, we aimed to determine the frequency, predictors and consequences associated with prolonged hypotension (PH) after CAS in our center. METHODS: We retrospectively analyzed the demographics, risk factors, nature of carotid disease, degree of stenosis of both internal carotid arteries, stent diameter and site of dilatation during stenting in 137 CAS procedures...
August 17, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28777491/identification-of-stac3-variants-in-non-native-american-families-with-overlapping-features-of-carey-fineman-ziter-syndrome-and-moebius-syndrome
#9
Aida Telegrafi, Bryn D Webb, Sarah M Robbins, Carlos E Speck-Martins, David FitzPatrick, Leah Fleming, Richard Redett, Andreas Dufke, Gunnar Houge, Jeske J T van Harssel, Alain Verloes, Angela Robles, Irini Manoli, Elizabeth C Engle, Ethylin W Jabs, David Valle, John Carey, Julie E Hoover-Fong, Nara L M Sobreira
Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). Here we present two non-Native American families, who were found to have STAC3 pathogenic variants. The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28777481/a-human-case-of-slc35a3-related-skeletal-dysplasia
#10
Andrew C Edmondson, Emma C Bedoukian, Matthew A Deardorff, Donna M McDonald-McGinn, Xueli Li, Miao He, Elaine H Zackai
Researchers have identified a subset of Holstein having a range of skeletal deformities, including vertebral anomalies, referred to as complex vertebral malformation due to mutations in the SLC35A3 gene. Here, we report the first case in humans of SLC35A3-related vertebral anomalies. Our patient had prenatally diagnosed anomalous vertebrae, including butterfly, and hemivertebrae throughout the spine, as well as cleft palate, micrognathia, patent foramen ovale, patent ductus arteriosus, posterior embryotoxon, short limbs, camptodactyly, talipes valgus, rocker bottom feet, and facial dysmorphism including proptosis, nevus flammeus, and a cupped left ear...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28776182/progressive-deficit-in-isolated-pontine-infarction-the-association-with-etiological-subtype-lesion-topography-and-outcome
#11
Elif Gökçal, Elvin Niftaliyev, Gözde Baran, Çiğdem Deniz, Talip Asil
It is important to predict progressive deficit (PD) in isolated pontine infarction, a relatively common problem of clinical stroke practice. Traditionally, lacunar infarctions are known with their progressive course. However, few studies have analyzed the branch atheromatous disease subtype as a subtype of lacunar infarction, separately. There are also conflicting results regarding the relationship with the topography of lesion and PD. In this study, we classified etiological subtypes and lesion topography in isolated pontine infarction and aimed to investigate the association of etiological subtypes, lesion topography and clinical outcome with PD...
August 3, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28768790/quantification-of-the-ossification-of-the-lateral-cuneiform-in-the-feet-of-young-children-with-unilateral-congenital-talipes-equinovarus
#12
P J Lang, T Avoian, S N Sangiorgio, M A Nazif, E Ebramzadeh, L E Zionts
AIMS: After the initial correction of congenital talipes equinovarus (CTEV) using the Ponseti method, a subsequent dynamic deformity is often managed by transfer of the tendon of tibialis anterior (TATT) to the lateral cuneiform. Many surgeons believe the lateral cuneiform should be ossified before surgery is undertaken. This study quantifies the ossification process of the lateral cuneiform in children with CTEV between one and three years of age. PATIENTS AND METHODS: The length, width and height of the lateral cuneiform were measured in 43 consecutive patients with unilateral CTEV who had been treated using the Ponseti method...
August 2017: Bone & Joint Journal
https://www.readbyqxmd.com/read/28759172/assessment-of-oxidative-stress-markers-in-cord-blood-of-newborns-to-patients-with-oxytocin-induced-labor
#13
Talip Karaçor, Sibel Sak, Serdar Başaranoğlu, Nurullah Peker, Elif Ağaçayak, Muhammet Erdal Sak, Abdulkadir Turgut, Mehmet Sıddık Evsen, Osman Evliyaoğlu, Talip Gül
AIM: We aimed to measure the extent of oxidative stress experienced during labor by the neonates of pregnant women undergoing induced or spontaneous birth and to compare the effects of induced labor on fetal well-being. METHODS: Sixty-four healthy pregnant women referring to the Department of Gynecology and Obstetrics, Dicle University Medical Faculty between October 2010 and May 2011 were included in this comparative study. Pregnant women undergoing induced labor by oxytocin were group 1 and those without labor induction were group 2...
May 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28754454/clinical-spectra-of-neuromuscular-manifestations-in-patients-with-lipodystrophy-a-multicenter-study
#14
Gulcin Akinci, Haluk Topaloglu, Tevfik Demir, Ayca Ersen Danyeli, Beril Talim, Fatma Ela Keskin, Pinar Kadioglu, Enez Talip, Canan Altay, Guzin Fidan Yaylali, Habib Bilen, Banu Nur, Leyla Demir, Huseyin Onay, Baris Akinci
Lipodystrophy is a heterogeneous group of disorders characterized by loss of adipose tissue. Here, we report on clinical spectra of neuromuscular manifestations of Turkish patients with lipodystrophy. Seventy-four patients with lipodystrophy and 20 healthy controls were included. Peripheral sensorimotor neuropathy was a common finding (67.4%) in lipodystrophic patients with diabetes. Neuropathic foot ulcers were observed in 4 patients. Drop foot developed in 1 patient with congenital generalized lipodystrophy type 1...
June 1, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28751993/multiple-spontaneous-intracranial-extracranial-arterial-dissections-in-a-patient-with-osteogenesis-imperfecta
#15
Mehmet Kolukısa, Elif Gökçal, Azize Esra Gürsoy, Çiğdem Deniz, Ayşe Aralaşmak, Talip Asil
A 40-year-old male with osteogenesis imperfecta (OI) was admitted to the hospital with an acute right monoparesis. Diffusion-weighted MRI showed infarction in the territory of the left anterior cerebral artery (ACA) and in the left posterior cerebral artery (PCA). In his vascular imaging, occlusion of the left vertebral artery (VA) starting from V2 segment was consistent with dissection and pseudoaneurysm in the right ACA. We presented this case because of the presence of spontaneous and simultaneous occurrence of both intracranial and extracranial arterial dissections in OI...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28739045/filamin-b-the-next-hotspot-in-skeletal-research
#16
REVIEW
Qiming Xu, Nan Wu, Lijia Cui, Zhihong Wu, Guixing Qiu
Filamin B (FLNB) is a large dimeric actin-binding protein which crosslinks actin cytoskeleton filaments into a dynamic structure. Up to present, pathogenic mutations in FLNB are solely found to cause skeletal deformities, indicating the important role of FLNB in skeletal development. FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique skeletal abnormalities...
July 20, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28718240/ponseti-technique-for-management-of-congenital-idiopathic-club-foot
#17
Muhammad Qaisar Shah, Alamzeb Khan, Muhammad Shoaib Zardad, Rizwana Iqbal, Sajjad Ahmed
BACKGROUND: Clubfoot or congenital talipes equinovarus, is a congenital deformity of the foot. It consists of cavus, adduction, varus and equinus. This is due to medial displacement of navicular and calcaneus around the talus. Talus is in equinus. Medial deviation of the head and neck of talus is due to force of calcaneus on talus. METHODS: This descriptive case series study was conducted at Orthopaedic unit, Ayub Teaching Hospital, Abbottabad from 1st August 2015 to 31st January 2016 to determine the frequency of idiopathic clubfoot correction, by using the Ponseti method...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28716746/controlled-release-and-anti-proliferative-effect-of-imatinib-mesylate-loaded-sporopollenin-microcapsules-extracted-from-pollens-of-betula-pendula
#18
Idris Sargin, Lalehan Akyuz, Murat Kaya, Gamze Tan, Talip Ceter, Kevser Yildirim, Seymanur Ertosun, Gozde Hatun Aydin, Muge Topal
Sporopollenin is a promising material for drug encapsulation due to its excellent properties; uniformity in size, non-toxicity, chemically and thermally resilient nature. Herein, morphologically intact sporopollenin microcapsules were extracted from Betula pendula pollens. Cancer therapeutic agent (imatinib mesylate) was loaded into the microcapsules. The encapsulation efficiency by passive loading technique was found to be 21.46%. Release behaviour of the drug from microcapsules was found to be biphasic, with an initial fast release followed by a slower rate of release...
July 14, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28704304/arterial-tree-anomalies-in-patients-with-clubfoot-an-investigation-carried-out-at-soba-university-hospital
#19
Samir Shaheen, Mustafa E H Bahar, Almigdad H A Mohammed, Sara F A Elbadri, Ashok Johari
Vascular deficiencies and reduced perfusion of the anterior tibial artery and the dorsalis pedis artery were suggested as causes of congenital talipes equino varus (CTEV). In this study, we assessed the prevalence of arterial abnormalities in patients with CTEV (50 patients; 74 feet) compared with a normal control group (16 patients; 32 feet) by Doppler ultrasound and Ankle Brachial Index. The flow was normal in the control group and was deficient in 39.19% of clubfoot patients. In severe clubfoot cases, the deficiency was found to an extent of 76...
July 12, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28691555/idiopathic-congenital-talipes-equinovarus-not-always-an-isolated-anomaly-a-review-of-long-term-outcomes
#20
Peter Stone, Walston Martis, Haemish Crawford
OBJECTIVE: To describe the long-term outcomes of children at school age who were thought to have isolated idiopathic congenital talipes equino varus (ICTEV) at birth. METHOD: A retrospective review of all children attending a regional talipes clinic who had achieved school age. RESULTS: One hundred sixty-three children were followed up. ICTEV was more common in Maori and other Polynesian children and in males. Additional abnormalities were apparent in 30...
July 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
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