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https://www.readbyqxmd.com/read/28425126/novel-sequence-variants-in-the-liph-and-lpar6-genes-underlies-autosomal-recessive-woolly-hair-hypotrichosis-in-consanguineous-families
#1
Farooq Ahmad, Salma Sharif, Muhammad Furqan Ubaid, Khadim Shah, Muhammad Nasim Khan, Muhammad Umair, Zahid Azeem, Wasim Ahmad
Autosomal-recessive woolly hair/hypotrichosis (ARWH/H) is a rare genetic disorder of hair caused by variants in the LIPH and LPAR6 genes. The disease is characterized by congenital tightly curled hair leading to sparse hair later in life. In the present report genetic characterization of three consanguineous families of Pakistani origin, displaying clinical features of ARWH/H, was performed. Haplotype and DNA sequence analysis of the LIPH gene revealed a novel homozygous nonsense variant (c.688C > T; p...
April 19, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28424582/hypothalamic-neurogenesis-as-an-adaptive-metabolic-mechanism
#2
REVIEW
Antonia Recabal, Teresa Caprile, María de Los Angeles García-Robles
In the adult brain, well-characterized neurogenic niches are located in the subventricular zone (SVZ) of the lateral ventricles and in the subgranular zone (SGZ) of the hippocampus. In both regions, neural precursor cells (NPCs) share markers of embryonic radial glia and astroglial cells, and in vitro clonal expansion of these cells leads to neurosphere formation. It has also been more recently demonstrated that neurogenesis occurs in the adult hypothalamus, a brain structure that integrates peripheral signals to control energy balance and dietary intake...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28418817/virtual-mapping-of-the-frontal-recess-guiding-safe-and-efficient-frontal-sinus-surgery
#3
Neil S Patel, Amy C Dearking, Erin K O'Brien, John F Pallanch
Objective To define relationships between the frontal sinus opening, ostia of other frontal recess cells, and endoscopic landmarks and to develop a clinically useful framework to guide frontal sinus surgery. Study Design Retrospective review. Setting Tertiary care academic referral center. Methods Adult patients with computed tomography (CT) without sinonasal pathology were included. Virtual endoscopy (using OsiriX) and corresponding CT reconstructions were used to identify all visible ostia in the frontal recess and characterize their positions in spaces between the uncinate/agger nasi (U), bulla ethmoidalis (EB), and middle turbinate (MT)...
April 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28416834/-efficacy-of-transforaminal-endoscopic-nerve-root-decompression-in-the-treatment-of-degenerative-lumbar-spinal-stenosis
#4
Z R Yu, C D Li, S N Zhu, H L Sun, Y Zhao, L T Qi
OBJECTIVE: To evaluate the feasibility of transforaminal endoscopic nerve root decompression for degenerative lumbar spinal stenosis (DLSS). METHODS: From July 2011 to April 2016, 96 cases of single segment DLSS were involved. All the patients had unilateral lower extremity neurological symptoms, signs, neurogenic intermittent claudication of less than 500 m. Imaging examinations (CT or MRI) or diagnostic nerve root block confirmed single segment degeneration. The mean age was (71...
April 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28409175/ct-arthrography-of-adhesive-capsulitis-of-the-shoulder-are-mr-signs-applicable
#5
Cerny Milena, Omoumi Patrick, Larbi Ahmed, Manicourt Daniel, Perozziello Anne, Frederic E Lecouvet, Bruno C Vande Berg, Dallaudière Benjamin
OBJECTIVE: To determine if diagnostic signs of adhesive capsulitis (AC) of the shoulder at Magnetic Resonance Imaging (MRI) and arthrography (MRA) are applicable to CT arthrography (CTA). METHODS: 22 shoulder CTAs with AC were retrospectively reviewed for features described in MR literature. The control group was composed of 83 shoulder CTA divided into four subgroups 1) normal (N = 20), 2) omarthrosis (N = 19), 3) labral injury (N = 23), and 4) rotator cuff tear (N = 21)...
2017: European Journal of Radiology Open
https://www.readbyqxmd.com/read/28407252/combined-endonasal-and-eyelid-approach-for-management-of-extensive-frontal-sinus-inverting-papilloma
#6
Monirah Albathi, Murugappan Ramanathan, Andrew P Lane, Kofi D O Boahene
OBJECTIVES: Sinonasal inverting papilloma (IP) is a benign but locally aggressive mucosal neoplasm with a high recurrence rate. Extension into the frontal sinus presents surgical challenges for endonasal resection. This study presents an orbitofrontal approach for managing extensive IP. STUDY DESIGN: Case series. METHODS: Four patients seen between 2012 and 2016 with biopsy-proven IP with lateral frontal sinus extension underwent a combined endonasal and transpalpebral approach for tumor resection...
April 13, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28403726/gastrocnemius-recession-a-cadaveric-study-of-surgical-safety-and-effectiveness
#7
Eva M Hoefnagels, Stephen M Belkoff, Bart A Swierstra
Background and purpose - Many methods of gastrocnemius lengthening have been described, with different surgical challenges, outcomes, and risks to the sural nerve. Our aims were (1) to locate the gastrocnemius muscular-tendinous junction in relation to the mid-length of the fibula (from here on designated the mid-fibula), (2) to compare the dorsiflexion achieved with dorsal recession or ventral recession, and (3) to determine the risk of injury to the sural nerve during gastrocnemius recession. Methods - In 10 pairs of fresh-frozen adult cadaveric lower extremities transected above the knee, we measured dorsiflexion, performed dorsal or ventral gastrocnemius recession at the mid-fibula, and then measured the increase in dorsiflexion and fasciotomy gap...
April 13, 2017: Acta Orthopaedica
https://www.readbyqxmd.com/read/28382120/outcomes-of-late-implantation-in-usher-syndrome-patients
#8
Ana Cristina H Hoshino, Agustina Echegoyen, Maria Valéria Schmidt Goffi-Gomez, Robinson Koji Tsuji, Ricardo Ferreira Bento
Introduction Usher syndrome (US) is an autosomal recessive disorder characterized by hearing loss and progressive visual impairment. Some deaf Usher syndrome patients learn to communicate using sign language. During adolescence, as they start losing vision, they are usually referred to cochlear implantation as a salvage for their new condition. Is a late implantation beneficial to these children? Objective The objective of this study is to describe the outcomes of US patients who received cochlear implants at a later age...
April 2017: International Archives of Otorhinolaryngology
https://www.readbyqxmd.com/read/28380103/hypotrichosis-with-juvenile-macular-dystrophy-a-case-report-with-molecular-study
#9
Lucas Perez Vicente, Simone Finzi, Remo Susanna, Terri L Young
Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair caused by hair follicle abnormalities as well as progressive retinal degeneration leading to blindness in the second or third decade of life. It is associated with mutations of the cadherin 3 (CDH3) gene, which result in abnormal expression of P-cadherin. Mutations in CDH3 are related to ectodermal dysplasia, ectrodactyly, and macular dystrophy. In this report, we describe an 11-year-old Iranian boy born with a missing left index fingernail and sparse scalp hair who later displayed macular pigmentary changes...
January 2017: Arquivos Brasileiros de Oftalmologia
https://www.readbyqxmd.com/read/28378460/chlorosis-caused-by-two-recessively-interacting-genes-reveals-a-role-of-rna-helicase-in-hybrid-breakdown-in-arabidopsis-thaliana
#10
Björn Plötner, Markus Nurmi, Axel Fischer, Mutsumi Watanabe, Korbinian Schneeberger, Svante Holm, Neha Vaid, Mark Aurel Schöttler, Dirk Walther, Rainer Hoefgen, Detlef Weigel, Roosa A E Laitinen
Hybrids often differ in fitness from their parents. They may be superior, translating into hybrid vigour or heterosis, but they may also be markedly inferior, because of hybrid weakness or incompatibility. The underlying genetic causes for the latter can often be traced back to genes that evolve rapidly because of sexual or host-pathogen conflicts. Hybrid weakness may manifest itself only in later generations, in a phenomenon called hybrid breakdown. We have characterized a case of hybrid breakdown among two Arabidopsis thaliana accessions, Shahdara (Sha, Tajikistan) and Lövvik-5 (Lov-5, Northern Sweden)...
April 4, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/28373784/left-ventricular-noncompaction-a-rare-form-of-cardiomyopathy-revelation-modes-and-predictors-of-mortality-in-adults-through-23-cases
#11
Iliyasse Asfalou, Sanae Boulaamayl, Maha Raissouni, Najat Mouine, Mohamed Sabry, Jamal Kheyi, Nawal Doghmi, Aatif Benyass
OBJECTIVES: To describe modes of clinical presentation and echocardiographic, angiographic, and rhythmic features, and prognostic characteristics of left ventricular noncompaction cardiomyopathy (LVNC) in North African adults, through one of the first series in Morocco. BACKGROUND: LVNC is a rare congenital disorder, described for the first time by Engberding in 1984. The suspected diagnosis in thromboembolic, hemodynamic, or rhythm events requires both echocardiography and cardiovascular magnetic resonance (CMR)...
April 2017: Journal of the Saudi Heart Association
https://www.readbyqxmd.com/read/28373604/a-new-concept-of-transforaminal-ventral-facetectomy-including-simultaneous-decompression-of-foraminal-and-lateral-recess-stenosis-technical-considerations-in-a-fresh-cadaver-model-and-a-literature-review
#12
Koichi Sairyo, Kosaku Higashino, Kazuta Yamashita, Fumio Hayashi, Keizo Wada, Toshinori Sakai, Yoichiro Takata, Fumitake Tezuka, Masatoshi Morimoto, Tomoya Terai, Takashi Chikawa, Hiroshi Yonezu, Akihiro Nagamachi, Yoshihiro Fukui
Percutaneous endoscopic surgery for the lumbar spine, which was established in the last decade, requires only an 8-mm skin incision and causes minimal damage to the paravertebral muscles; thus, it is considered to be a minimally invasive technique for spinal surgery. It has been used to perform percutaneous endoscopic discectomy via two main approaches: the TF approach is a posterolateral one through the intervertebral foramen and can be done under local anesthesia; the IL approach is a more traditional one through the interlaminar space and is difficult to perform under local anesthesia...
2017: Journal of Medical Investigation: JMI
https://www.readbyqxmd.com/read/28367689/operative-anatomy-of-the-medial-gastrocnemius-recession-vs-the-proximal-medial-gastrocnemius-recession
#13
Nathan Kaplan, Xavier Fowler, Noorullah Maqsoodi, Benedict DiGiovanni, Irvin Oh
BACKGROUND: Isolated gastrocnemius contracture (IGC) is associated with various foot and ankle pathologies. To address the problem of IGC, a number of gastrocnemius lengthening procedures have been described. Although proximal medial gastrocnemius recession (PMGR) has shown to be an effective operative treatment for IGC, it poses risks to various anatomic structures around the knee joint and requires the patient to be positioned prone. As an alternative, we proposed to release the medial gastrocnemius at the division between the proximal one-third and distal two-thirds of the gastrocnemius muscle to correct equinus contracture, while minimizing risk to other structures...
April 2017: Foot & Ankle International
https://www.readbyqxmd.com/read/28367042/a-valid-indication-and-the-effect-of-bilateral-inferior-oblique-transposition-on-recurrent-or-consecutive-horizontal-deviation-in-infantile-strabismus
#14
Suk-Gyu Ha, Gun-Hoo Na, Seung-Hyun Kim
PURPOSE: To evaluate the effects of bilateral inferior oblique transposition (BIOT) on horizontal deviation from primary position among patients with bilateral dissociated vertical deviation (DVD) associated with inferior oblique overaction (IOOA) in infantile strabismus. METHODS: Retrospective chart review was conducted among 19 patients with infantile strabismus. All patients had DVD and IOOA with consecutive or recurrent horizontal deviation and underwent modified BIOT surgery...
April 2017: Korean Journal of Ophthalmology: KJO
https://www.readbyqxmd.com/read/28363510/x-linked-cobalamin-disorder-hcfc1-mimicking-nonketotic-hyperglycinemia-with-increased-both-cerebrospinal-fluid-glycine-and-methylmalonic-acid
#15
Emmanuel Scalais, Elise Osterheld, Christiane Weitzel, Linda De Meirleir, Frederic Mataigne, Geert Martens, Tamim H Shaikh, Curtis R Coughlin, Hung-Chun Yu, Michael Swanson, Marisa W Friederich, Gunter Scharer, Daniel Helbling, Jamie Wendt-Andrae, Johan L K Van Hove
BACKGROUND: Autosomal recessive or X-linked inborn errors of intracellular cobalamin metabolism can lead to methylmalonic aciduria and homocystinuria. In neonates, both increased cerebrospinal fluid glycine and cerebrospinal fluid/plasma glycine ratio are biochemical features of nonketotic hyperglycinemia. METHODS: We describe a boy presenting in the neonatal period with hypotonia, tonic, clonic, and later myoclonic seizures, subsequently evolving into refractory epilepsy and severe neurocognitive impairment...
January 7, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28361336/setting-the-light-conditions-for-measuring-root-transparency-for-age-at-death-estimation-methods
#16
Joe Adserias-Garriga, Laia Nogué-Navarro, Sara C Zapico, Douglas H Ubelaker
Age-at-death estimation is one of the main goals in forensic identification, being an essential parameter to determine the biological profile, narrowing the possibility of identification in cases involving missing persons and unidentified bodies. The study of dental tissues has been long considered as a proper tool for age estimation with several age estimation methods based on them. Dental age estimation methods can be divided into three categories: tooth formation and development, post-formation changes, and histological changes...
March 30, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28351649/frequency-of-gonadal-tumours-in-complete-androgen-insensitivity-syndrome-cais-a-retrospective-case-series-analysis
#17
S Chaudhry, R Tadokoro-Cuccaro, S E Hannema, C L Acerini, I A Hughes
BACKGROUND: Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder of sex development (DSD) where affected individuals are phenotypically female, but have an XY karyotype and testes. The risk of gonadal tumour development in CAIS may increase with age; incidence rates have been reported to be 0.8-22% in patients who have retained their gonads into adulthood. Consequently, gonadectomy has been recommended either during childhood or after puberty is complete, although there is no consensus on the optimal timing for this procedure...
March 14, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28339445/transforaminal-endoscopic-decompression-for-a-giant-epidural-gas-containing-pseudocyst-a-case-report-and-literature-review
#18
Bin Zhu, Liang Jiang, Xiao Guang Liu
The isolated epidural gas-containing pseudocyst is an uncommon pathogenic factor for severe pain of the lower limb as a result of nerve root compression. After reviewing these rare cases reported in the literature, we found that the name, pathogenesis, and treatment strategy of this pathology remained controversial. The most common treatment is conservative treatment or percutaneous aspiration which might result inpoor pain relief and high recurrence rates. Moreover, the patient who received open surgery had good clinical outcome; however, he or she might experience a significant soft tissue injury...
March 2017: Pain Physician
https://www.readbyqxmd.com/read/28339441/the-role-of-the-ligamentum-flavum-area-as-a-morphological-parameter-of-lumbar-central-spinal-stenosis
#19
Young Uk Kim, Jun Young Park, Doo Hwan Kim, Myung-Hwan Karm, Jae-Young Lee, Jee In Yoo, Sung Won Chon, Jeong Hun Suh
BACKGROUND: Hypertrophy of the ligamentum flavum (LF) has been considered as a major cause of lumbar central spinal stenosis (LCSS). Previous studies have found that ligamentum flavum thickness (LFT) is correlated with aging, disc degeneration, and lumbar spinal stenosis. However, hypertrophy is different from thickness. Thus, to evaluate hypertrophy of the whole LF, we devised a new morphological parameter, called the ligamentum flavum area (LFA). OBJECTIVES: We hypothesized that the LFA is a key morphologic parameter in the diagnosis of LCSS...
March 2017: Pain Physician
https://www.readbyqxmd.com/read/28335839/apolipoprotein-l1-variants%C3%A2-and-blood-pressure-traits-in%C3%A2-african-americans
#20
Girish N Nadkarni, Geneviève Galarneau, Stephen B Ellis, Rajiv Nadukuru, Jinglan Zhang, Stuart A Scott, Claudia Schurmann, Rongling Li, Laura J Rasmussen-Torvik, Abel N Kho, M Geoffrey Hayes, Jennifer A Pacheco, Teri A Manolio, Rex L Chisholm, Dan M Roden, Joshua C Denny, Eimear E Kenny, Erwin P Bottinger
BACKGROUND: African Americans (AA) are disproportionately affected by hypertension-related health disparities. Apolipoprotein L1 (APOL1) risk variants are associated with kidney disease in hypertensive AAs. OBJECTIVES: This study assessed the APOL1 risk alleles' association with blood pressure traits in AAs. METHODS: The discovery cohort included 5,204 AA participants from Mount Sinai's BioMe biobank. Replication cohorts included additional BioMe (n = 1,623), Vanderbilt BioVU (n = 1,809), and Northwestern NUgene (n = 567) AA biobank participants...
March 28, 2017: Journal of the American College of Cardiology
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