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https://www.readbyqxmd.com/read/28739045/filamin-b-the-next-hotspot-in-skeletal-research
#1
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 6, 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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28689236/etiological-classification-of-ischemic-stroke-in-young-patients-a-comparative-study-of-toast-ccs-and-asco
#6
Elif Gökçal, Elvin Niftaliyev, Talip Asil
Analysis of stroke subtypes is important for making treatment decisions and prognostic evaluations. The TOAST classification system is most commonly used, but the CCS and ASCO classification systems might be more useful to identify stroke etiologies in young patients whose strokes have a wide range of different causes. In this manuscript, we aim to compare the differences in subtype classification between TOAST, CCS, and ASCO in young stroke patients. The TOAST, CCS, and ASCO classification schemes were applied to 151 patients with ischemic stroke aged 18-49 years old and the proportion of subtypes classified by each scheme was compared...
July 8, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28680320/lambert-eaton-myasthenic-syndrome-with-a-twenty-three-year-delay-in-diagnosis
#7
Elif Gökçal, Azize Esra Gürsoy, Talip Asil, Mustafa Ertaş
No abstract text is available yet for this article.
June 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28680312/motor-and-non-motor-symptoms-in-parkinson-s-disease-effects-on-quality-of-life
#8
Elif Gökçal, Veysel Eren Gür, Rabia Selvitop, Gülsen Babacan Yildiz, Talip Asil
INTRODUCTION: This study aimed to evaluate motor and non-motor symptoms in idiopathic Parkinson's disease (IPD) patients and to determine the self-reported influence of all existing symptoms on their quality of life (QoL). METHODS: The sociodemographic and clinical characteristics, medical treatments, and Modified Hoehn and Yahr (mH&Y) scores of IPD patients without cognitive impairment were recorded. A survey questioning different motor and non-motor symptoms was administered to the patients...
June 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28672132/deficient-dorsalis-pedis-flow-in-severe-idiopathic-clubfeet-does-ponseti-casting-affect-the-outcome
#9
Ismail Munajat, Mehran Yoysefi, Nik Munirah Nik Mahdi
BACKGROUND: Arterial deficiency in congenital clubfoot or congenital talipes equinovarus (CTEV) was postulated as either the primary cause of deformity or secondary manifestation of other bony and soft tissue abnormalities. The objectives of the study were to find any association between arterial deficiency with severity of CTEV and its treatment. METHOD: This prospective study conducted on 24 feet with CTEV (18 babies) with Pirani score ranging between 2 to 6. Eighteen normal babies (36 feet) were selected as control...
June 8, 2017: Foot
https://www.readbyqxmd.com/read/28669158/reliability-and-validity-of-the-malay-version-of-a-modified-smoking-self-efficacy-questionnaire-among-bruneian-secondary-students
#10
Tajidah Talip, Nurolaini Kifli, Lin Naing
Introduction: The 12-items Smoking Self-Efficacy Questionnaire (SEQ-12) has been shown to be a valid and reliable instrument to assess confidence in one’s ability to refrain from smoking. However, although such measures have been validated worldwide, most of them have not been culturally and linguistically adapted for use among Malay communities. The objective of this study was therefore to modify the SEQ-12 according to the Bruneian context for cultural adaptation for use among Bruneian adolescents, and assess the validity and reliability of the Malay translated version among secondary students...
June 25, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28644251/risk-factors-etiological-classification-topographical-location-and-outcome-in-medullary-infarctions
#11
Elif Gökçal, Gözde Baran, Elvin Niftaliyev, Vildan Güzel, Talip Asil
An understanding of the etiological mechanisms is important for therapeutic decisions and prognostic evaluation of patients with ischemic stroke. The object of this study was to evaluate the risk factors, etiological subtypes, and topography of lesion in patients with medullary infarctions (MIs). Besides, we also investigated early neurological deterioration, new vascular events, and functional outcome of all patients at 3-month follow-up. We analyzed our database consisting of patients who were diagnosed with acute MI and who were admitted within 24 hours of onset...
July 2017: Neurologist
https://www.readbyqxmd.com/read/28632733/ponseti-method-in-the-management-of-clubfoot-under-2-years-of-age-a-systematic-review
#12
Balasankar Ganesan, Ameersing Luximon, Adel Al-Jumaily, Suchita Kothe Balasankar, Ganesh R Naik
BACKGROUND: Congenital talipes equinovarus (CTEV), also known as clubfoot, is common congenital orthopedic foot deformity in children characterized by four components of foot deformities: hindfoot equinus, hindfoot varus, midfoot cavus, and forefoot adduction. Although a number of conservative and surgical methods have been proposed to correct the clubfoot deformity, the relapses of the clubfoot are not uncommon. Several previous literatures discussed about the technical details of Ponseti method, adherence of Ponseti protocol among walking age or older children...
2017: PloS One
https://www.readbyqxmd.com/read/28625083/spinal-cord-ischemia-after-endoscopic-ultrasound-guided-celiac-plexus-neurolysis-case-report-and-review-of-the-literature
#13
Ibrahim Hakkı Köker, Ayşe Aralaşmak, Nurcan Ünver, Talip Asil, Hakan Şentürk
INTRODUCTION: Endosonography guided celiac plexus neurolysis is efficacious in the management of severe pain due to advanced pancreatic cancer. Although endoscopic ultrasound (EUS) guided celiac neurolysis (CN) is mostly a safer procedure than the percutaneous posterior approach, severe complications such as paraplegia have been reported. CASE REPORT: We describe a patient with advanced adenocarcinoma of the pancreas and severe pain who developed irreversible paraplegia after EUS guided CN...
June 18, 2017: Scandinavian Journal of Gastroenterology
https://www.readbyqxmd.com/read/28619360/further-delineation-of-cog8-cdg-a-case-with-novel-compound-heterozygous-mutations-diagnosed-by-targeted-exome-sequencing
#14
Aram Yang, Sung Yoon Cho, Ja-Hyun Jang, Jinsup Kim, Sook Za Kim, Beom Hee Lee, Han-Wook Yoo, Dong-Kyu Jin
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of inherited metabolic disorders with highly variable clinical presentations caused by deficient glycosylation of proteins and/or lipids. CDG-IIh is a very rare subgroup of CDG caused by mutations in the conserved oligomeric Golgi (COG) complex gene, COG8, and so far, only two cases have been reported in the medical literature. Here, we describe an 8-year-old Korean boy with psychomotor retardation, hypotonia, failure to thrive, elevated serum liver enzymes, microcephaly, and talipes equinovarus...
June 13, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28594771/serial-head-and-brain-imaging-of-17-fetuses-with-confirmed-zika-virus-infection-in-colombia-south-america
#15
Miguel Parra-Saavedra, Jennita Reefhuis, Juan Pablo Piraquive, Suzanne M Gilboa, Martina L Badell, Cynthia A Moore, Marcela Mercado, Diana Valencia, Denise J Jamieson, Mauricio Beltran, Magda Sanz-Cortes, Ana Maria Rivera-Casas, Mayel Yepez, Guido Parra, Martha Ospina Martinez, Margaret A Honein
OBJECTIVE: To evaluate fetal ultrasound and magnetic resonance imaging findings among a series of pregnant women with confirmed Zika virus infection to evaluate the signs of congenital Zika syndrome with respect to timing of infection. METHODS: We conducted a retrospective case series of pregnant women referred to two perinatal clinics in Barranquilla and Ibagué, Colombia, who had findings consistent with congenital Zika syndrome and Zika virus infection confirmed in maternal, fetal, or neonatal samples...
July 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28577551/clinical-diagnostic-exome-evaluation-for-an-infant-with-a-lethal-disorder-genetic-diagnosis-of-tarp-syndrome-and-expansion-of-the-phenotype-in-a-patient-with-a-newly-reported-rbm10-alteration
#16
Zöe Powis, Alexa Hart, Sara Cherny, Igor Petrik, Erika Palmaer, Sha Tang, Carolyn Jones
BACKGROUND: Diagnostic Exome Sequencing (DES) has been shown to be an effective tool for diagnosis individuals with suspected genetic conditions. CASE PRESENTATION: We report a male infant born with multiple anomalies including bilateral dysplastic kidneys, cleft palate, bilateral talipes, and bilateral absence of thumbs and first toes. Prenatal testing including chromosome analysis and microarray did not identify a cause for the multiple congenital anomalies. Postnatal diagnostic exome studies (DES) were utilized to find a molecular diagnosis for the patient...
June 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28553443/pattern-of-presentation-and-outcome-of-short-term-treatment-for-idiopathic-clubfoot-ctev-with-ponseti-method
#17
R Gunalan, A Mazelan, Ypb Lee, A Saw
Introduction: Congenital Talipes Equinovarus (CTEV) is a common congenital foot deformity that is associated with long term disability. Treatment with Ponseti method has been successful especially for children who present early. We conducted this study to investigate the age of presentation of children and report the early outcome. Materials: This is a retrospective study from a single institution. We included 31 patients with 45 idiopathic clubfeet and investigated problems and success rate at the end of serial casting...
November 2016: Malaysian Orthopaedic Journal
https://www.readbyqxmd.com/read/28533829/clinical-analysis-of-aqueductal-stenosis-in-patients-with-hydrocephalus-in-a-kenyan-setting
#18
Loyal Poonamjeet Kaur, Nderitu Joseph Munyiri, Wekesa Vincent Dismus
INTRODUCTION: Aqueductal stenosis is the commonest cause of congenital hydrocephalus. The scope of this paper is to highlight the disease burden of hydrocephalus attributed to aqueductal stenosis which still remains unknown in our setting. METHODS: In a descriptive cross-sectional study, 258 records of patients diagnosed with hydrocephalus were analyzed after ethical approval from Kenyatta National Hospital- University of Nairobi (KNH-UON) ethics and research committee from January 2010 to May 2016...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28532028/newly-isolated-sporopollenin-microcages-from-platanus-orientalis-pollens-as-a-vehicle-for-controlled-drug-delivery
#19
Muhammad Mujtaba, Idris Sargin, Lalehan Akyuz, Talip Ceter, Murat Kaya
Sporopollenin microcages were produced from the pollens of Platanus orientalis. Paracetamol was loaded into the microcages. Pollen, sporopollenin, paracetamol and paracetamol-loaded sporopollenin microcages were characterized with FT-IR, TGA and SEM. The analytical analyses demonstrated that sporopollenin microcages were structurally intact, highly reticulated and thermally stable. The loading efficiency of the sporopollenin microcages was found to be 8.2% using the passive loading technique and 23.7% via evaporating loading technique...
August 1, 2017: Materials Science & Engineering. C, Materials for Biological Applications
https://www.readbyqxmd.com/read/28528549/analysis-of-the-148-gd-and-154-dy-content-in-proton-irradiated-lead-targets
#20
Z Talip, S Pfister, R Dressler, J C David, A Vögele, P Vontobel, R Michel, D Schumann
This work presents the determination of the (148)Gd and (154)Dy content in Pb targets irradiated by 220-2600 MeV protons. It includes the chemical separation of lanthanides, followed by the preparation of proper samples, by molecular plating technique, for α-spectrometry measurements. The experimental cross section results were compared with theoretical predictions, calculated with the INCL++-ABLA07 code. The comparisons showed a satisfactory agreement for (148)Gd (less than within a factor two), while measured (154)Dy cross sections are higher than the theoretical values...
June 2, 2017: Analytical Chemistry
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