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https://www.readbyqxmd.com/read/27913050/congenital-high-airway-obstruction-syndrome-chaos-a-perinatal-autopsy-case-report
#1
Manasi Gosavi, Lalit Kumar, Ashwini Ratnakar, Hema Bannur
INTRODUCTION: Congenital High Airway Obstruction Syndrome (CHAOS) is a rare anomaly where a partial or complete obstruction of upper airway is seen. As a consequence, the foetus develops enlarged lungs, inverted or flattened diaphragm and ascites. The pathological findings in a case of CHAOS is presented. CASE REPORT: A 28-year-old primigravida presented with a history of 5 months of amenorrhoea. Ultrasonography revealed enlarged echogenic lungs, cardiac mid-position, inverted diaphragm, foetal ascites and talipes of left foot...
October 26, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27895745/evaluation-of-the-association-between-hif-1%C3%AE-and-her-2-expression-hormone-receptor-status-ki-67-expression-histology-and-tumor-fdg-uptake-in-breast-cancer
#2
Sevi M Sureyya Cerci, Kemal Kursat Bozkurt, Hasan Erol Eroglu, Celal Cerci, Evrim Erdemoglu, Pinar Talip Bulbul, Meltem Cetin, Recep Cetin, Ibrahim Metin Ciris, Mahmut Bulbul
The present study aimed to examine hypoxia-inducible factor (HIF)-1α expression and its association with glucose uptake in invasive breast cancer. In addition, connections between glucose uptake and several other prognostic parameters of breast cancer were studied. Between August 2013 and April 2015, 92 patients with biopsy-diagnosed breast cancer were subjected to (18)F-fluorodeoxyglucose positron emission tomography/computed tomography. The primary tumor and nodal maximum standardized uptake values (SUVmax) were recorded, and HIF-1α expression and clinical parameters, including tumor mass, estrogen receptor (ER) and progesterone receptor (PgR) levels, human epidermal growth factor receptor-2 (HER-2), Ki-67 index, grade and histology, were analyzed...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27847382/there-is-a-positive-correlation-between-socioeconomic-status-and-ovarian-reserve-in-women-of-reproductive-age
#3
Mert Ulas Barut, Elif Agacayak, Murat Bozkurt, Tarık Aksu, Talip Gul
BACKGROUND The purpose of this study was to investigate the potential association between socioeconomic status and ovarian reserve, anti-Mullerian hormone level, antral follicle count, and follicle stimulating hormone level in women of reproductive age. MATERIAL AND METHODS A total of 101 married women between 20-35 years of age who presented to the Department of Obstetrics and Gynecology, Health Research System In Vitro Fertilization (HRS IVF) Center between October 2014 and November 2015 and met the inclusion criteria were included in this study...
November 16, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/27819742/role-of-col9a1-genetic-polymorphisms-in-development-of-congenital-talipes-equinovarus-in-a-chinese-population
#4
X L Zhao, Y J Wang, Y L Wu, W H Han
Talipes equinovarus is a common congenital deformity. COL9A1 polymorphisms are associated with the development of articular cartilage-related diseases. In the current study, we evaluated the relationship between COL9A1 rs1135056, rs35470562, and rs592121 genetic polymorphisms and risk of congenital talipes equinovarus. Between January 2013 and July 2015, 87 children with congenital talipes equinovarus and 174 control subjects were recruited from the Fourth People's Hospital of Shaanxi and the First Hospital of Yulin...
November 3, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27794580/think-of-the-conus-medullaris-at-the-time-of-diagnosis-of-fetal-sacral-agenesis
#5
Nicolas Mottet, Jelena Martinovic, Claire Baeza, Fabien Guimiot, Jean-Philippe Bault, Marie Cécile Aubry, Didier Riethmuller, Michel Zerah, Celia Cretolle, Alexandra Benachi
BACKGROUND: There is no precise prenatal indicator to refine an accurate prognosis in case of sacral agenesis and to define the diagnostic approach and outcome criteria in case of fetal sacral agenesis using 3 characteristics of the conus medullaris (CM): its position, its appearance, and associated spinal abnormalities. METHODS: Ten cases of prenatally diagnosed sacral agenesis were included between 1995 and 2014 after collating ultrasound findings and prenatal computed tomography data...
October 29, 2016: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/27779489/an-unusual-cause-of-talipes-equinovarus-agenesis-of-leg-muscles
#6
Soumaya Boudokhane, Amine Kalai, Badii Hmida, Anis Jellad, Zohra Ben Salah Frih
No abstract text is available yet for this article.
October 22, 2016: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/27751652/a-case-of-congenital-spinal-muscular-atrophy-with-pain-due-to-a-mutation-in-trpv4
#7
Jason Fleming, Dianna Quan
We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor neuropathy and motor neuropathy or neuronopathy...
September 16, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27725019/south-african-congenital-disorders-data-2006-2014
#8
V Lebese, C Aldous, H L Malherbe
BACKGROUND: The National Department of Health in South Africa (SA) routinely collects congenital disorder (CD) data for its national CD surveillance system. The current system has been implemented since 2006, but no reports on the data collected, methodology, achievements or challenges have been published to date. OBJECTIVES: To ascertain the effectiveness of the current national CD surveillance system and its implementation. METHOD: A descriptive, retrospective study using an audit of the current database was undertaken to evaluate the number of notifications received, types of CDs reported and the quality of reporting across SA for data received from 2006 to 2014...
September 5, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/27701017/design-and-application-of-sporopollenin-microcapsule-supported-palladium-catalyst-remarkably-high-turnover-frequency-and-reusability-in-catalysis-of-biaryls
#9
Talat Baran, Idris Sargin, Murat Kaya, Ayfer Menteş, Talip Ceter
Bio-based catalyst support materials with high thermal and structural stability are desired for catalysts systems requiring harsh conditions. In this study, a thermally stable palladium catalyst (up to 440°C) was designed from sporopollenin, which occurs naturally in the outer exine layer of pollens and is widely acknowledged as chemically very stable and inert biological material. Catalyst design procedure included (1) extraction of sporopollenin microcapsules from Betula pendula pollens (∼25μm), (2) amino-functionalisation of the microcapsules, (3) Schiff base modification and (4) preparation of Pd(II) catalyst...
September 28, 2016: Journal of Colloid and Interface Science
https://www.readbyqxmd.com/read/27635859/neuroprotective-effect-of-ischemic-preconditioning-via-modulating-the-expression-of-cerebral-mirnas-against-transient-cerebral-ischemia-in-diabetic-rats
#10
Ozge Altintas, Mehmet Ozgen Altintas, Meltem Kumas, Talip Asil
OBJECTIVES: In this study, we aimed to evaluate the effect of the Ischemic preconditioning (IPreC) on the expression profile of cerebral miRNAs against stroke by induced transient middle cerebral artery occlusion (MCAo) in diabetic rats. METHODS: Eighty male Spraque Dawley rats were allocated to eight groups. In order to evaluate the expression profile of miRNAs, we induced transient MCAo seven days after STZ-induced diabetes (DM). Also we performed IPreC 72 h before transient MCAo to assess whether IPreC could have a neuroprotective effect against ischemia-reperfusion injury...
September 16, 2016: Neurological Research
https://www.readbyqxmd.com/read/27610251/ring-chromosome-4-in-a-child-with-multiple-congenital-abnormalities-a-case-report-and-review-of-the-literature
#11
C S Paththinige, N D Sirisena, U G I U Kariyawasam, L P C Saman Kumara, V H W Dissanayake
A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4...
2016: Case Reports in Genetics
https://www.readbyqxmd.com/read/27593780/the-relationship-of-hematoma-growth-to-rdw-in-patients-with-hypertensive-intracerebral-hemorrhage
#12
Özge Altintaş, Hümeyra Dürüyen, Gözde Baran, Oğuz Baran, Salim Katar, Veysel Antar, Talip Asil
AIM: Hypertension is a primary risk factor for intracerebral hemorrhage (ICH) and is thought to be responsible for about 55% of all ICH cases. Thus, the primary goal of the study was to examine whether the status of vascular rheological factors upon admission to the hospital was associated with hypertensive ICH growth and early outcomes. MATERIAL AND METHODS: Over a 2-year period, the present study evaluated 60 ICH patients who were admitted within the first 12 hours of symptom onset...
October 22, 2015: Turkish Neurosurgery
https://www.readbyqxmd.com/read/27580948/prevalence-of-congenital-limb-defects-data-from-birth-defects-registries-in-three-provinces-in-southern-thailand
#13
Somchit Jaruratanasirikul, Boonsin Tangtrakulwanich, Pornruedee Rachatawiriyakul, Hutcha Sriplung, Wannee Limpitikul, Pathikan Dissaneevate, Nattasit Khunnarakpong, Pongsak Tantichantakarun
This is the first population-based study in Thailand on the prevalence of congenital limb defects (CLD). Data were obtained from recently established birth defects registries in three southern Thailand provinces during 2009-2013. Entries in the birth defects registries included live births, stillbirths after 24 weeks gestational age, and terminations of pregnancy following a prenatal diagnosis of fetal anomaly. The total of 186 393 births recorded included 424 CLD cases, giving an average prevalence of 2...
September 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27578977/evaluation-and-follow-up-of-cognitive-functions-in-patients-with-minor-stroke-and-transient-ischemic-attack
#14
Çiğdem Deniz, Yahya Çelik, Tuğçe Özdemir Gültekin, Gozde Eryiğit Baran, Çağla Deniz, Talip Asil
BACKGROUND AND PURPOSE: We aimed to examine the incidence of cognitive impairment among patients with stroke, the associated risk factors, progression of the cognitive impairment, and the association between the localization of the lesion(s) as detected by magnetic resonance imaging and the affected areas of cognitive function. METHODS: A total of 40 patients over 18 years of age enduring a transient ischemic stroke or minor stroke within the past 3 months who had a minimum life expectancy of 1 year were included in this study...
2016: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/27578976/higher-minor-hemoglobin-a2-levels-in-multiple-sclerosis-patients-correlate-with-lesser-disease-severity
#15
Muhammed Emin Ozcan, Bahri Ince, Hasan Huseyin Karadeli, Asuman Gedikbasi, Talip Asil, Meric A Altinoz
OBJECTIVE: To define whether minor adult hemoglobin A2 (HbA2, α2δ2) exerts any protective activity in multiple sclerosis (MS). METHODS: HbA2 levels were measured in 146 MS patients with high performance liquid chromatography and association with MS Severity Scores (MSSS) were determined. HbA2 associations with blood count parameters were also studied using blood counts evaluated on the same day of high performance liquid chromatography sampling. Routine biochemical parameters were also determined to rule out elusively influential factors, such as anemia and thyroid disorders...
2016: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/27541682/geographic-clusters-of-congenital-anomalies-in-argentina
#16
Boris Groisman, Juan Gili, Lucas Giménez, Fernando Poletta, María Paz Bidondo, Pablo Barbero, Rosa Liascovich, Jorge López-Camelo
Geographical clusters are defined as the occurrence of an unusual number of cases higher than expected in a given geographical area in a certain period of time. The aim of this study was to identify potential geographical clusters of specific selected congenital anomalies (CA) in Argentina. The cases were ascertained from 703,325 births, examined in 133 maternity hospitals in the 24 provinces of Argentina. We used the spatial scan statistic to determine areas of Argentina which had statistically significant elevations of prevalence...
August 19, 2016: Journal of Community Genetics
https://www.readbyqxmd.com/read/27510005/smoking-initiation-and-continuation-a-qualitative-study-among-bruneian-male-adolescents
#17
Tajidah Talip, Nurolaini Kifli, Zaidah Murang, Lin Naing
BACKGROUND: Cigarette smoking is one of the leading global causes of premature and preventable death. In Brunei Darussalam, smokingrelated diseases have been a primary cause of mortality for the past three decades. Despite the increasing efforts that have been made in recent years to reduce the consumption of tobacco products in Brunei, the prevalence of adolescent smoking cigarette, however has risen alarmingly, from 8.9% in 2013 to 11.4% in 2014, with a higher prevalence found in males (17...
2016: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/27509974/systematic-review-of-smoking-initiation-among-asian-adolescents-20052015-utilizing-the-frameworks-of-triadic-influence-and-planned-behavior
#18
Tajidah Talip, Zaidah Murang, Nurolaini Kifli, Lin Naing
BACKGROUND: A recent WHO data report on mortality attributable to tobacco use including cigarette smoking indicated a very high burden of deaths in Asia and that people often initiate smoking as early as young adolescents. The objectives of this study were to systematically review peerreviewed articles on cigarette smoking initiation among Asian adolescents and to develop a conceptual model of factors influencing smoking initiation by integrating all relevant factors based on existing data...
2016: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/27509457/neuroprotective-effects-of-chronic-fenofibrate-treatment-via-modulating-the-immunoreactivity-of-cleaved-caspase-3-in-stroke-induced-by-transient-middle-cerebral-occlusion-rat-model
#19
Ozge Altintas, Mehmet Ozgen Altintas, Mehmet Serif Aydin, Oguz Baran, Veysel Antar, Mukaddes Esrefoglu, Talip Asil
AIM: Peroxisome proliferator activated receptors (PPAR) α regulates lipid homeostasis and is a target of fibrates, which have a neuroprotective function by various mechanisms. In this study, we aimed to evaluate the role of the PPARα agonist, fenofibrate, in the modulation of cleaved caspase-3 immunoreactivity and at the final infarct volume in an experimental ischemia/reperfusion rat model by induced transient proximal middle cerebral artery occlusion. MATERIAL AND METHODS: 65 male Spraque Dawley rats were allocated to 4 groups; sham (n = 5), experiment 1 (n = 20), experiment 2 (n = 20), experiment 3 (n = 20)...
February 5, 2016: Turkish Neurosurgery
https://www.readbyqxmd.com/read/27495102/osteogenesis-imperfecta-and-clubfoot-a-rare-combination-case-report-and-review-of-the-literature
#20
Pietro Persiani, Filippo Maria Ranaldi, Lorena Martini, Anna Zambrano, Mauro Celli, Patrizia D'Eufemia, Ciro Villani
BACKGROUND: Osteogenesis imperfecta (OI) is a rare congenital genetic osteodystrophy, which has a prevalence of 1:20,000. OI is caused by the mutation of the COL1A1/COL1A2 genes, leading to a deficit of quality and/or quantity in the synthesis of procollagen-α type 1. Seven different forms of diverse clinical entity have been classified by Sillence and Glorieux, although, recently, up to 11 forms characterized by different genetic mutations have been recognized. Patients with OI suffer from extreme bone fragility and osteoporosis, which often predisposes them to frequent fractures...
August 2016: Medicine (Baltimore)
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