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https://www.readbyqxmd.com/read/29780003/a-disease-associated-aifm1-variant-induces-severe-myopathy-in-knockin-mice
#1
Lena Wischhof, Anna Gioran, Dagmar Sonntag-Bensch, Antonia Piazzesi, Miriam Stork, Pierluigi Nicotera, Daniele Bano
OBJECTIVE: Mutations in the AIFM1 gene have been identified in recessive X-linked mitochondrial diseases. Functional and molecular consequences of these pathogenic AIFM1 mutations have been poorly studied in vivo. METHODS/RESULTS: Here we provide evidence that the disease-associated apoptosis-inducing factor (AIF) deletion arginine 201 (R200 in rodents) causes pathology in knockin mice. Within a few months, posttranslational loss of the mutant AIF protein induces severe myopathy associated with a lower number of cytochrome c oxidase-positive muscle fibers...
May 8, 2018: Molecular Metabolism
https://www.readbyqxmd.com/read/29772856/-application-of-broad-easy-immediate-surgery-in-percutaneous-transforaminal-endoscopic-technology-for-lumbar-lateral-recess-stenosis-in-the-elderly
#2
Shi-Min Zhang, Guan-Nan Wu, Jiao Jin, Yu-Zhang Liu, Zuo-Xu Li, Zhao-Jie Zhang, Ming Ma, Tao Chong, Yong-Dong Zhang
OBJECTIVE: To explore the safety and effectiveness of percutaneous transforaminal endoscopic BEIS technology for lumbar lateral recess stenosis in the elderly. METHODS: From February 2014 to May 2016, 21 patients with lumbar lateral recess stenosis in elderly were treated with percutaneous endoscopic BEIS. There were 13 males and 8 females, aged from 70 to 85 years old with an average of 74.3 years. Preoperative, 1 and 12 months postoperative visual analogue scale(VAS) scores and Oswestry Disability Index(ODI) were statistically analyzed...
April 25, 2018: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/29770345/biotin-thiamine-responsive-basal-ganglia-disease-case-report-and-follow-up-of-a-patient-with-poor-compliance
#3
Muneera A Alabdulqader, Sumayah Al Hajjaj
Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine supplements. Objectives: We aimed to determine the optimal management of BTBGD presenting in acute encephalopathic episodes. Method: Case report. Results: An 8-year-old girl born to consanguineous parents was diagnosed with BTBGD at the age of 3 years after presenting with acute encephalopathy and ataxia...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29768383/treatable-massive-pericardial-effusion-and-hypertrophic-cardiomyopathy-in-an-infant-with-a-novel-homozygous-acadvl-mutation-a-case-report
#4
Yoo-Mi Kim, Geena Kim, Hoon Ko, Han-Wook Yoo, Hyoung Doo Lee
RATIONALE: Infantile-onset hypertrophic cardiomyopathy (HCMP) should be considered a largely genetic condition, although its onset is most often triggered by infection. Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive inborn error of mitochondrial fatty acid β-oxidation that often causes severe cardiomyopathy and/or sudden death during the neonatal period. PATIENT CONCERNS: Herein, we report an infant with VLCAD deficiency who presented with severe cardiac manifestations, including massive pericardial effusion and HCMP...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29768338/botulinum-toxin-injection-to-improve-functional-independence-and-to-alleviate-parenting-stress-in-a-child-with-advanced-pantothenate-kinase-associated-neurodegeneration-a-case-report-and-literature-review
#5
Cho-I Lin, Kuan-Lin Chen, Ta-Shen Kuan, Sheng-Han Lin, Wei-Pin Lin, Yu-Ching Lin
RATIONALE: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disease. Progressive motor symptoms such as dystonia and spasticity begin in childhood and relentlessly become incapacitating later in life. Treatments including anticholinergics and iron chelation are usually ineffective. Botulinum toxin type A (BoNT-A) is effective for adult patients with dystonia or spasticity. PATIENT CONCERNS: We reported a 10-year-old female patient with advanced PKAN, manifesting as generalized dystonia and spasticity...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29755837/chagasic-cardiomyopathy-and-pompe-disease-case-report
#6
Rafael Ob de Morais, Ândrea V Chaves-Markman, Anna Pp Miranda, Ingrid G Amorim, Maria da Ga de M Cavalcanti, Manuel Markman, Brivaldo Markman-Filho
BACKGROUND: Pompe disease is a lysosomal storage disease with an autosomal recessive inheritance characterized by an insufficient activity of the acid alpha-glucosidase enzyme. The incidence varies from 1:40000 to 1:200000 live births and cardiac involvement in adults is rare. Chagas disease is an infection caused by the protozoan Trypanosoma cruzi, in which one-third of the cases progress to the chronic form, and may lead to cardiac involvement, usually from the fifth decade of life onwards...
2018: American Journal of Cardiovascular Disease
https://www.readbyqxmd.com/read/29752650/traumatic-knee-injury-correlation-of-radiographic-effusion-size-with-the-presence-of-internal-derangement-on-magnetic-resonance-imaging
#7
Nathan D Cecava, Shane Dieckman, Kevin P Banks, Liem T Mansfield
PURPOSE: Traumatic knee injury is a common clinical presentation. However, knee internal derangement often goes undiagnosed on physical exam. The authors hypothesize that patients with suprapatellar joint effusion greater than 10 mm anteroposterior diameter on lateral radiograph have a high likelihood of knee internal derangement on magnetic resonance imaging. MATERIALS AND METHODS: A retrospective review of knee radiographs and magnetic resonance imaging in 198 patients age 18-40 years with acute knee injury was performed...
May 8, 2018: Emergency Radiology
https://www.readbyqxmd.com/read/29744697/trochleoplasty-indications-and-technique
#8
EDITORIAL
John E Nolan, Patrick C Schottel, Nathan K Endres
PURPOSE OF REVIEW: Trochlear dysplasia is a well-described risk factor for patellar instability. Trochleoplasty has emerged as a procedure within the surgical armamentarium for patellar instability, yet its role is unclear. A variety of trochleoplasty procedures have emerged. The purpose of this review is to clarify indications for trochleoplasty, outline the technical steps involved in performing common trochleoplasties and report the published outcomes and potential complications of these procedures...
May 9, 2018: Current Reviews in Musculoskeletal Medicine
https://www.readbyqxmd.com/read/29743396/-congenital-factor-v-and-factor-viii-deficiency-discovered-in-an-elderly-patient-with-abnormal-bleeding-after-trauma
#9
Yoshiyuki Ogawa, Kunio Yanagisawa, Yuri Uchiyama, Akira Matsumoto, Madoka Inoue, Kohtaro Toyama, Yuri Miyazawa, Naomichi Matsumoto, Hiroshi Handa
Congenital combined deficiency of coagulation factor V (FV) and factor VIII (FVIII) (F5F8D) is a rare autosomal recessive bleeding disorder caused by mutations in lectin mannose-binding type 1 (LMAN1) or multiple coagulation factor deficiency 2 (MCFD2) encoding chaperone molecules involved in the intracellular transport of FV and FVIII. Here, we report a case of F5F8D in an elderly patient diagnosed with hematoma after a right thigh injury. A 71-year-old male had a history of abnormal bleeding after tooth extraction and cholecystectomy...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29740948/astrocytes-an-active-player-in-aicardi-gouti%C3%A3-res-syndrome
#10
Sunetra Sase, Asako Takanohashi, Adeline Vanderver, Akshata Almad
Aicardi-Goutières syndrome (AGS) is an early-onset, autoimmune and genetically heterogeneous disorder with severe neurologic injury. Molecular studies have established that autosomal recessive mutations in one of the following genes are causative: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1 and IFIH1/MDA5. The phenotypic presentation and pathophysiology of AGS is associated with over-production of the cytokine Interferon-alpha (IFN-α) and its downstream signaling, characterized as type I interferonopathy...
May 2018: Brain Pathology
https://www.readbyqxmd.com/read/29739729/congenital-hyperinsulinism-and-evolution-to-sulfonylurea-responsive-diabetes-later-in-life-due-to-a-novel-homozygous-p-l171f-abcc8-mutation
#11
Emregül Işık, Huseyin Demirbilek, Jayne A L Houghton, Sian Ellard, Sarah E Flanagan, Khalid Hussain
BACKGROUND: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children. Recessive inactivating mutations in the ABCC8 and KCNJ11 genes account for approximately 50 % of all CHI cases. Hyperinsulinaemic hypoglycaemia (HH) in infancy and diabetes in later life have been reported in subjects with HNF1A , HNF4A and ABCC8 mutations. CASE REPORT: Herein, we present a child who was diagnosed with CHI at birth, then developed diabetes mellitus at the age of 9 years due to a novel homozygous missense, p...
March 29, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29730798/effects-of-an-infratrochlear-nerve-block-on-reducing-the-oculocardiac-reflex-during-strabismus-surgery-a-randomized-controlled-trial
#12
Seung-Hyun Kim, Hyun Jin Shin
PURPOSE: To determine whether an infratrochlear nerve block (ITB) can reduce the oculocardiac reflex (OCR) during strabismus surgery on the medial rectus muscle (MR). METHODS: This prospective, randomized single-masked study included 60 patients with intermittent exotropia scheduled for unilateral MR resection/lateral rectus recession under general anesthesia. Patients were randomly allocated to receive a regional nerve block of the infratrochlear nerve (ITB group) prior to surgery or standard treatment without a nerve block (control group)...
May 5, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29725851/laterally-positioned-flap-along-with-acellular-dermal-matrix-graft-in-the-management-of-maxillary-localized-recessions
#13
Cavid Ahmedbeyli, Sebnem Dirikan Ipci, Gokser Cakar, Selcuk Yilmaz
OBJECTIVES: The aim of this study was to evaluate acellular dermal matrix graft (ADM) combination with laterally positioned flap (LPF) and to compare the results with LPF alone in terms of root coverage, esthetics, and patient perspectives in gingival recessions. MATERIALS AND METHODS: Twenty-two patients with localized Miller Class I/II recessions ≥ 3 mm with gingival thickness (GT) < 0.8 mm were included. Outcome parameters such as recession height and width, keratinized tissue (KT) height, GT, mean and complete defect coverage, patient satisfaction, and root coverage esthetic score (RES) were re-evaluated at 12 months postoperatively...
May 3, 2018: Clinical Oral Investigations
https://www.readbyqxmd.com/read/29725385/atypical-synovial-chondromatosis-of-the-right-knee-a-case-report
#14
Yu-Ping Yang, Jiang-Jing Wang, Hong-Yuan Li
Synovial chondromatosis, also known as synovial osteochondromatosis, is a rare, benign condition characterized by the formation of multiple cartilaginous nodules in the synovium of facet spaces. Synovial chondromatosis affects many joints, the knee being the most common. The present report examined a 47-year-old male with symptoms of swelling and pain in the right knee, who was admitted to hospital in September 2015. Following admittance, arthroscopic explorations were conducted. Viscous fluid and multiple cartilage-like clumps were identified in the patient's joints during surgery...
May 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29722897/mucopolysaccharidosis-vi-and-effects-on-growth-of-the-apical-bases-a-case-report
#15
Moema Ferreira Dos Reis, Lucas Rodrigues Pinheiro, Maria das Graças Rodrigues Pinheiro, Haroldo Amorim de Almeida, Patrícia do Socorro Queiroz Feio, Sâmia Cordovil de Almeida, Isabel Cristina Neves de Souza, Roberto Giugliani, Ida Vanessa Doederlein Schwartz, Rosely Maria Dos Santos Cavaleiro, João de Jesus Viana Pinheiro, Luiz Carlos Santana da Silva
OBJECTIVE: Mucopolysaccharidosis (MPS) VI is a rare disorder caused by an autosomal recessive mutation in the short arm of chromosome 5 (5q12-13) leading to an N-acetylgalactosamine-sulfatase lysosomal enzyme deficiency and numerous systemic clinical changes. The oral and maxillofacial complex may exhibit tooth eruption anomalies, macroglossia, gingival hypertrophy, mouth breathing, increased lower facial height, open bite, retrognathia, and progressive TMJ arthrosis. This report describes craniofacial growth changes in two MPS VI patients, sisters and daughters of outbred parents, who were longitudinally monitored from 11 to 15 years of age...
May 3, 2018: Special Care in Dentistry
https://www.readbyqxmd.com/read/29721915/clinical-biochemical-and-molecular-overview-of-transaldolase-deficiency-and-evaluation-of-the-endocrine-function-update-of-34-patients
#16
M Williams, V Valayannopoulos, R Altassan, W K Chung, A C Heijboer, W T Keng, R Lapatto, P McClean, M F Mulder, A Tylki-Szymańska, M J E Walenkamp, M Alfadhel, H Alakeel, G S Salomons, W Eyaid, M M C Wamelink
BACKGROUND: Transaldolase deficiency (TALDO-D) is a rare autosomal recessive inborn error of the pentose phosphate pathway. Since its first description in 2001, several case reports have been published, but there has been no comprehensive overview of phenotype, genotype, and phenotype-genotype correlation. METHODS: We performed a retrospective questionnaire and literature study of clinical, biochemical, and molecular data of 34 patients from 25 families with proven TALDO-D...
May 2, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29709753/endoscopic-endonasal-approach-to-the-anteromedial-temporal-fossa-and-mobilization-of-the-lateral-wall-of-the-cavernous-sinus-through-the-inferior-orbital-fissure-and-v1-v2-corridor-an-anatomical-study-and-clinical-considerations
#17
Shunya Hanakita, Wei-Chieh Chang, Kentaro Watanabe, Daniel Ronconi, Moujahed Labidi, Hun-Ho Park, Kenichi Oyama, Anne-Laure Bernat, Sebastien Froelich
OBJECTIVE: The aim of this study was to identify key anatomical landmarks useful in gaining access to the anteromedial temporal region via the corridor formed by the inferior orbital fissure (IOF), the ophthalmic branch (V1), and the maxillary branch (V2) of the trigeminal nerve via the EEA. METHODS: An anatomical dissection of six cadaver heads was performed to confirm the feasibility and applicability of the EEA for accessing the anteromedial temporal region. RESULTS: Following middle turbinectomy, the lateral recess of the sphenoid sinus was opened, the orbital apex exposed, and the posterior wall of the maxillary sinus was removed, in sequence...
April 27, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29709045/clinical-research-on-the-efficacy-of-modified-surgery-for-esotropia-fixus-with-high-myopia
#18
Dongmei Qi, Lixia Gao, Jing Xie, Tao Yu
PURPOSE: To investigate the efficacy of a modified surgical procedure for esotropia fixus with high myopia. METHODS: Thirteen patients (15 eyes) with esotropia fixus and high myopia who underwent the Jensen procedure for superior and lateral rectus muscles at Southwest Hospital between February 2014 and December 2015 were retrospectively analyzed. Intraoperatively, the superior rectus and lateral rectus muscles were separated up to 12 to 14 mm posterior to their respective insertion...
April 27, 2018: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29708654/adult-periodontitis-treated-with-a-new-device-for-subgingival-lavage-a-randomized-controlled-clinical-trial-using-a-split-mouth-design
#19
L J Van Dijk, M A Lie, E R Van den Heuvel, G A Van der Weijden
OBJECTIVES: To evaluate in patients with untreated adult periodontitis, the effect of treatment with a novel pocket irrigator/evacuator device (IED) compared to conventional subgingival debridement (CPT), both provided during the initial phase of active periodontal therapy. METHODS: This study was an examiner-blind, randomized controlled clinical trial using a split-mouth design. Systemically healthy patients with adult periodontitis were selected. Full-mouth probing pocket depth (PPD), gingival bleeding on pocket probing scores (BOPP), gingival recession (REC) and dental plaque (PI) were assessed at baseline...
April 30, 2018: International Journal of Dental Hygiene
https://www.readbyqxmd.com/read/29687095/volumetric-alterations-around-single-tooth-implants-using-the-socket-shield-technique-preliminary-results-of-a-prospective-case-series
#20
Marc Hinze, Rainer Janousch, Sabine Goldhahn, Markus Schlee
OBJECTIVE: To demonstrate in a prospective cohort study that immediate implantation and provisionalization in combination with the socket-shield technique will result in volume stability of the mucosa adherent to the inserted implant. MATERIAL AND METHODS: Patients with an indication for a single tooth implant underwent application of the socket-shield technique and immediate implantation of a provisional implant crown. A noninvasive volumetric measurement was performed according to the method described by Windisch et al (2007) at baseline and 12 weeks later...
2018: International Journal of Esthetic Dentistry
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