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https://www.readbyqxmd.com/read/29353266/twenty-seven-mutations-with-three-novel-pathologenic-variants-causing-biotinidase-deficiency-a-report-of-203-patients-from-the-southeastern-part-of-turkey
#1
Berna Seker Yilmaz, Neslihan Onenli Mungan, Deniz Kor, Derya Bulut, Gülşah Seydaoglu, Murat Öktem, Serdar Ceylaner
BACKGROUND: Biotinidase deficiency (BD) is an autosomal recessive inborn error of metabolism characterized by neurologic and cutaneous symptoms and can be detected by newborn screening. Newborn screening for BD was implemented in Turkey at the end of 2008. METHODS: In total, 203 patients who were identified among the infants detected by the newborn screening were later confirmed to have BD through measurement of serum biotinidase activity. We also performed BTD mutation analysis to characterize the genetic profile...
January 20, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29346610/novel-mutations-in-the-lipase-h-gene-lead-to-secretion-defects-of-liph-in-chinese-patients-with-autosomal-recessive-woolly-hair-hypotrichosis-arwh-ht
#2
Xiao-Dan Chang, Ya-Juan Gu, Shan Dai, Xue-Rong Chen, Chun-Lei Zhang, Hong-Shan Zhao, Qing-Hua Song
Autosomal recessive woolly hair/hypotrichosis (ARWH/HT: OMIM #278150/604379) is a rare hereditary hair disease characterized by tightly curled hair at birth which can lead to sparse hair later in life. The mutations in both LIPH and LPAR6/P2RY5 are responsible for autosomal recessive woolly hair with or without hypotrichosis (ARWH/HT). To conduct clinical and genetic investigations in four patients from three unrelated Chinese Han families with ARWH/HT, we performed mutation screening of LIPH and LPAR6/P2RY5 gene and identified four mutations in LIPH: c...
January 13, 2018: Mutagenesis
https://www.readbyqxmd.com/read/29339320/primary-obstruction-of-the-foramen-of-luschka-anatomy-histology-and-clinical-significance
#3
Laszlo Barany, Gabor Baksa, Patonay Lajos, Gergely Racz, Oliver Ganslandt, Michael Buchfelder, Peter Kurucz
BACKGROUND: The foramen of Luschka is a natural aperture between the fourth ventricle and the subarachnoid space at the cerebellopontine angle (CPA). Membranous closure of this foramen is referred to as primary obstruction. The available information about this variant and its role in the development of the cysts of the posterior fossa are contradictory in the literature. METHODS: Sixty-one formalin-fixed human brains (122 foramina) were involved in this study. Both the macroscopic and the histological features of the obstructed foramina were examined...
January 12, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29334749/-unusual-history-of-wilson-disease-a-case-report-and-review-of-the-literature
#4
František Nehaj, Marianna Kubašková, Michal Mokáň, Juraj Sokol, Vladimír Nosáľ, Kamil Zeleňák, Marián Mokáň
Wilson disease (WD) belongs to autosomal recessive genetic metabolic disorders with gene mutation ATP7B located on 13th chromosome. The enzyme ATPase plays an important role in WD. It facilitates excretion of copper into bile. This gene is responsible for modification of apoceruloplasmin. In this disease, it leads to insufficient release of copper from organism and accumulation of copper in organs such as liver, brain which can cause dysfunction of a certain organ. According to specific symptoms, we can divide WD into psychiatric, neurologic or hepatic form...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29325606/repeat-expansion-diseases
#5
Henry Paulson
More than 40 diseases, most of which primarily affect the nervous system, are caused by expansions of simple sequence repeats dispersed throughout the human genome. Expanded trinucleotide repeat diseases were discovered first and remain the most frequent. More recently tetra-, penta-, hexa-, and even dodeca-nucleotide repeat expansions have been identified as the cause of human disease, including some of the most common genetic disorders seen by neurologists. Repeat expansion diseases include both causes of myotonic dystrophy (DM1 and DM2), the most common genetic cause of amyotrophic lateral sclerosis/frontotemporal dementia (C9ORF72), Huntington disease, and eight other polyglutamine disorders, including the most common forms of dominantly inherited ataxia, the most common recessive ataxia (Friedreich ataxia), and the most common heritable mental retardation (fragile X syndrome)...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29319400/deep-lateral-wall-orbital-decompression-following-strabismus-surgery-in-patients-with-type-ii-ophthalmic-graves-disease
#6
Michael P Ellis, Emily C Broxterman, Alan R Hromas, Thomas J Whittaker, Jason A Sokol
PURPOSE: Surgical management of ophthalmic Graves' disease traditionally involves, in order, orbital decompression, followed by strabismus surgery and eyelid surgery. Nunery et al. previously described two distinct sub-types of patients with ophthalmic Graves' disease; Type I patients exhibit no restrictive myopathy (no diplopia) as opposed to Type II patients who do exhibit restrictive myopathy (diplopia) and are far more likely to develop new-onset worsening diplopia following medial wall and floor decompression...
January 10, 2018: Orbit
https://www.readbyqxmd.com/read/29315065/-congenitally-missing-maxillary-lateral-incisors-long-term-periodontal-and-functional-evaluation-after-orthodontic-space-closure-with-first-premolar-intrusion-and-canine-extrusion
#7
Marco Rosa, Patrizia Lucchi, Simona Ferrari, Bjørn U Zachrisson, Alberto Caprioglio
INTRODUCTION: The aims of this investigation were to evaluate associations between orthodontic space closure (including first premolar intrusion and canine extrusion for esthetic reasons) and periodontal tissue deterioration over a 10-year period in subjects with one or both missing maxillary lateral incisors and to investigate the occurrence of signs or symptoms of temporomandibular disorder (TMD). METHODS: This was a retrospective cohort study comprising patients treated by the same orthodontist...
December 2017: L' Orthodontie Française
https://www.readbyqxmd.com/read/29301172/myelography-in-the-assessment-of-degenerative-lumbar-scoliosis-and-its-influence-on-surgical-management
#8
George McKay, Peter Alexander Torrie, Wendy Bertram, Priyan Landham, Stephen Morris, John Hutchinson, Roland Watura, Ian Harding
OBJECTIVE: Myelography has been shown to highlight foraminal and lateral recess stenosis more readily than computed tomography (CT) or magnetic resonance imaging (MRI). It also has the advantage of providing dynamic assessment of stenosis in the loaded spine. The advent of weight-bearing MRI may go some way towards improving assessment of the loaded spine and is less invasive, however availability remains limited. This study evaluates the potential role of myelography and its impact upon surgical decision making...
December 2017: Korean Journal of Spine
https://www.readbyqxmd.com/read/29300819/labour-market-segregation-and-gender-differences-in-sickness-absence-trends-in-2005-2013-in-finland
#9
Taina Leinonen, Eira Viikari-Juntura, Kirsti Husgafvel-Pursiainen, Lauri J Virta, Mikko Laaksonen, Ilona Autti-Rämö, Svetlana Solovieva
Objectives: Women have higher sickness absence rate than men, but less is known of changes in this difference over time. We examined gender differences in sickness absence trends focusing on gender segregation in the labour market. Methods: We used large nationwide register data on Finnish wage earners aged 25-59 and generalized estimation equations based on repeated logistic regression to estimate the annual risk of sickness absence lasting at least 2 weeks. Results: Between 2005 and 2013, the age-adjusted proportion (%) of employees with all-cause sickness absence decreased from the initial levels of 10...
December 29, 2017: Annals of Work Exposures and Health
https://www.readbyqxmd.com/read/29297726/long-term-surgical-outcomes-in-the-sagging-eye-syndrome
#10
Zia Chaudhuri, Joseph L Demer
BACKGROUND/AIMS: Strabismus due to sagging eye syndrome (SES) caused by age-related connective tissue involution is now an established cause of diplopia in older people. High suspicion of the condition results in early recognition, often obviating extensive neurological investigations and enabling surgical correction of the strabismus. METHODS: This retrospective study reviewed surgical results in 93 patients (40 males) of average age 68 ± 12 years, who had small-angle strabismus due to SES, during the 20-year period 1994-2014...
January 3, 2018: Strabismus
https://www.readbyqxmd.com/read/29287847/targeted-next-generation-sequencing-identified-a-novel-mutation-in-myo7a-causing-usher-syndrome-type-1-in-an-iranian-consanguineous-pedigree
#11
Daniz Kooshavar, Masoumeh Razipour, Morteza Movasat, Mohammad Keramatipour
BACKGROUND: Usher syndrome (USH) is characterized by congenital hearing loss and retinitis pigmentosa (RP) with a later onset. It is an autosomal recessive trait with clinical and genetic heterogeneity which makes the molecular diagnosis much difficult. In this study, we introduce a pedigree with two affected members with USH type 1 and represent a cost and time effective approach for genetic diagnosis of USH as a genetically heterogeneous disorder. METHODS: Target region capture in the genes of interest, followed by next generation sequencing (NGS) was used to determine the causative mutations in one of the probands...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29284428/unilateral-lateral-rectus-muscle-advancement-surgery-based-on-one-fourth-of-the-angle-of-consecutive-esotropia
#12
Jung Yup Kim, Soo Jung Lee
BACKGROUND: To evaluate the efficacy of unilateral lateral rectus muscle advancement surgery based on one-fourth of the angle of consecutive esotropia within 25 prism diopters (PD) occurring after bilateral lateral rectus muscle recession for intermittent exotropia. METHODS: Medical records of 11 patients who underwent unilateral lateral rectus muscle advancement for consecutive esotropia from 2011 to 2014 and who were observed for at least 6 months after surgery were retrospectively reviewed...
December 29, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/29276052/nonsyndromic-retinitis-pigmentosa-in-the-ashkenazi-jewish-population-genetic-and-clinical-aspects
#13
Adva Kimchi, Samer Khateb, Rong Wen, Ziqiang Guan, Alexey Obolensky, Avigail Beryozkin, Shoshi Kurtzman, Anat Blumenfeld, Eran Pras, Samuel G Jacobson, Tamar Ben-Yosef, Hadas Newman, Dror Sharon, Eyal Banin
PURPOSE: To analyze the genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (AJ) descent, aiming to identify genotype-phenotype correlations. DESIGN: Cohort study. PARTICIPANTS: Retinitis pigmentosa patients from 230 families of AJ origin. METHODS: Sanger sequencing was performed to detect specific founder mutations known to be prevalent in the AJ population. Ophthalmologic analysis included a comprehensive clinical examination, visual acuity (VA), visual fields, electroretinography, color vision testing, and retinal imaging by OCT, pseudocolor, and autofluorescence fundus photography...
December 22, 2017: Ophthalmology
https://www.readbyqxmd.com/read/29275184/analysis-of-variant-rs3794087-in-slc1a2-and-parkinson-s-disease-in-a-chinese-han-population-a-case-control-study-and-meta-analysis
#14
Yuan Cheng, Cheng-Yuan Mao, Yu-Tao Liu, Fang Li, Jing Yang, Han Liu, Chan Zhang, Yan-Lin Wang, Jun Wu, Chang-He Shi, Yu-Ming Xu
Recently, a genome-wide association study of a Caucasian population identified variant rs3794087 in intron 4 of the SLC1A2 gene, which may increase the risk of essential tremor (ET). Considering the overlap in the pathological features and clinical manifestations of ET and Parkinson's disease (PD), several studies on the association between rs3794087 and PD were later performed in other populations. However, results about the role of SLC1A2 rs3794087 in PD were inconsistent. We thus performed a case-control study in a Chinese Han population to investigate the role of SLC1A2 rs3794087 in Chinese patients with PD...
December 21, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29260601/an-association-study-between-scfd1-rs10139154-variant-and-amyotrophic-lateral-sclerosis-in-a-chinese-cohort
#15
Yongping Chen, Qingqing Zhou, Xiaojing Gu, Qianqian Wei, Bei Cao, Hui Liu, Yanbing Hou, Huifang Shang
BACKGROUND: A recent genome-wide association study (GWAS) demonstrated that the Sec1 family domain containing 1 (SCFD1) gene is associated with amyotrophic lateral sclerosis (ALS). The objective of our study was to investigate the association between the single nucleotide polymorphism (SNP) rs10139154 in the SCFD1 gene and ALS in a Chinese cohort. METHODS: A cohort of 1074 sporadic ALS (SALS) patients from the Department of Neurology at the West China Hospital of Sichuan University were genotyped for rs10139154 using a polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis...
December 20, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29259026/early-vglut1-specific-parallel-fiber-synaptic-deficits-and-dysregulated-cerebellar-circuit-in-the-kiko-mouse-model-of-friedreich-ataxia
#16
Hong Lin, Jordi Magrane, Elisia M Clark, Sarah M Halawani, Nathan Warren, Amy Rattelle, David R Lynch
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder with progressive ataxia that affects both the peripheral and central nervous system (CNS). While later CNS neuropathology involves loss of large principal neurons and glutamatergic and GABAergic synaptic terminals in the cerebellar dentate nucleus, early pathological changes in FRDA cerebellum remain largely uncharacterized. Here, we report early cerebellar VGLUT1 (SLC17A7)-specific parallel fiber (PF) synaptic deficits and dysregulated cerebellar circuit in the frataxin knock-in/knockout (KIKO) FRDA mouse model...
December 19, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29258935/low-retrosigmoid-infratonsillar-approach-to-lateral-medullary-lesions
#17
Baran Bozkurt, M Yashar S Kalani, Kaan Yağmurlu, Evgenii Belykh, Mark C Preul, Peter Nakaji, Robert F Spetzler
OBJECTIVE: In our study, we comprehensively detail the technique of the low retrosigmoid approach to the lateral medullary area, including the inferior cerebellar peduncle, postolivary sulcus, pontomedullary sulcus, and inferior olivary nucleus, as well as the lateral recess of the fourth ventricle. METHODS: Four formalin-fixed, silicone-injected, cadaveric human heads were examined under the operating microscope to demonstrate the pertinent descriptive anatomy using the low retrosigmoid approach in a stepwise manner...
December 16, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29248305/state-of-the-art-transforaminal-percutaneous-endoscopic-lumbar-surgery-under-local-anesthesia-discectomy-foraminoplasty-and-ventral-facetectomy
#18
REVIEW
Koichi Sairyo, Takashi Chikawa, Akihiro Nagamachi
Transforaminal (TF) percutaneous endoscopic surgery for the lumbar spine under the local anesthesia was initiated in 2003 in Japan. Since it requires only an 8-mm skin incision and damage of the paravertebral muscles would be minimum, it would be the least invasive spinal surgery at present. At the beginning, the technique was used for discectomy; thus, the procedure was called PELD (percutaneous endoscopic lumbar discectomy). TF approach can be done under the local anesthesia, there are great benefits. During the surgery patients would be in awake and aware condition; thus, severe nerve root damage can be avoided...
December 13, 2017: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
https://www.readbyqxmd.com/read/29245270/spondylectomy-and-lateral-lumbar-interbody-fusion-for-thoracolumbar-kyphosis-in-an-adult-with-achondroplasia-a-case-report
#19
Masashi Miyazaki, Shozo Kanezaki, Naoki Notani, Toshinobu Ishihara, Hiroshi Tsumura
RATIONALE: Fixed thoracolumbar kyphosis with spinal stenosis in adult patients with achondroplasia presents a challenging issue. We describe the first case in which spondylectomy and minimally invasive lateral access interbody arthrodesis were used for the treatment of fixed severe thoracolumbar kyphosis and lumbar spinal canal stenosis in an adult with achondroplasia. PATIENT CONCERNS: A 61-year-old man with a history of achondroplastic dwarfism presented with low back pain and radiculopathy and neurogenic claudication...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29236649/deadly-sphenoid-fungus-isolated-sphenoid-invasive-fungal-rhinosinusitis-a-case-report
#20
Jason E Gilde, Christopher C Xiao, Victoria A Epstein, Jonathan Liang
INTRODUCTION: Acute invasive fungal rhinosinusitis (AIFRS) is a potentially fatal infection, usually affecting immunocompromised patients. Isolated sphenoid sinus involvement is rare and has been reported in only a few cases. We discuss the clinical characteristics, histopathologic features, and differential diagnosis of AIFRS of the sphenoid sinus. CASE PRESENTATION: A 57-year-old man with a history of refractory non-Hodgkin lymphoma and neutropenia presented with a 1-week duration of left-sided headache and ipsilateral cheek paresthesia...
2017: Permanente Journal
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