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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
Ozge Altintas, Mehmet Ozgen Altintas, Abdurrahman Tasal, Okkes Taha Kucukdagli, Talip Asil
OBJECTIVES: Of all strokes, 85% are ischemic and intracranial artery occlusion accounts for 80% of these ischemic strokes. Endovascular therapy for acute ischemic stroke was a new modality aiming at resolution of clots in occluded cerebral arteries. The platelet-to-lymphocyte ratio (PLR) was introduced as a potential marker to determine increased inflammation, which is a result of releasing many mediators from the platelets. In this study we aimed to evaluate whether the PLR had a prognostic role in stroke patients undergoing thrombectomy and attempted to determine the effect that this ratio had on their survival...
September 2016: Neurological Research
Masaaki Sugawara, Fumiaki Oguma, Hiroyuki Hirahara
Loeys-Dietz syndrome( LDS) is a recently recognized autosomal dominant connective tissue disorder. Mutations in the genes encoding transforming growth factor-beta( TGF-β) receptor 1 and (2 TGFBR1, TGFBR2)have been associated with LDS. We report here 2 cases of LDS in childhood. Case 1 was a 10-year-old man, who had aneurysm of both the pulmonary trunk and the ascending aorta, associated with pulmonary and aortic valve insufficiency. Surgical repair was performed successfully at the age of 17. The aortic valve was replaced with a mechanical valve...
August 2016: Kyobu Geka. the Japanese Journal of Thoracic Surgery
Q L Guo, F Fu, R Li, X Y Jing, T Y Lei, J Han, X Yang, L Zhen, M Pan, C Liao
OBJECTIVE: To investigate the application of fetuses with talipes equinovarus(TE)using chromosomal microarray analysis(CMA)technology. METHODS: From May 2012 to June 2015, 54 fetuses were found with TE and with or without other structural anomalies by prenatal ultrasound. Karyotyping was taking for them all, and the fetuses with normal karyotypes took another CMA test. The data were analyzed with CHAS software. Finally all the cases were followed up to know about their pregnancy outcomes...
July 25, 2016: Zhonghua Fu Chan Ke za Zhi
Ozge Altintas, Abdurrahman Tasal, Elvin Niftaliyev, Okkes Taha Kucukdagli, Talip Asil
OBJECTIVES: In this study, we aimed to evaluate whether the inflammation as measured by increased platelet to lymphocyte ratio (PLR) predispose to silent infarcts in patients with paroxysmal atrial fibrillation (PAF). METHODS: The present study investigated a total of 48 new diagnosed patients with PAF who had no signs of stroke. PLR, which was calculated as the ratio of the platelet count to the lymphocyte count, C-reactive protein and erythrocyte sedimentation rate were measured due to evaluate inflammatory state...
September 2016: Neurological Research
Christian Sætersdal, Jonas M Fevang, John Asle Bjørlykke, Lars B Engesæter
PURPOSE: Despite few studies comparing Ponseti treatment and traditional treatment of clubfoot (talipes equinovarus), the Ponseti method is now accepted as standard treatment for this deformity. The Ponseti method was introduced in Norway in 2003 and the purpose of this multicenter-study was to compare the results of Ponseti treatment with the results of the previous treatment for clubfoot in Norway. METHODS: 90 children (134 clubfeet) treated with previous treatment (pre-Ponseti group), were compared to 115 Ponseti treated children (160 clubfeet) (Ponseti group)...
October 2016: Journal of Children's Orthopaedics
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