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lateral recess

Amanda C Smith, Yoko Ito, Afsana Ahmed, Jeremy A Schwartzentruber, Chandree L Beaulieu, Erika Aberg, Jacek Majewski, Dennis E Bulman, Karina Horsting-Wethly, Diana Vermunt-de Koning, Richard J Rodenburg, Kym M Boycott, Lynette S Penney
Primary CoQ10 deficiency is a clinically and genetically heterogeneous, autosomal recessive disorder resulting from mutations in genes involved in the synthesis of coenzyme Q10 (CoQ10 ). To date, mutations in nine proteins required for the biosynthesis of CoQ10 cause CoQ10 deficiency with varying clinical presentations. In 2009 the first patient with mutations in COQ9 was reported in an infant with a neonatal-onset, primary CoQ10 deficiency with multi-system disease. Here we describe four siblings with a previously undiagnosed lethal disorder characterized by oligohydramnios and intrauterine growth restriction, variable cardiomyopathy, anemia, and renal anomalies...
March 20, 2018: Journal of Inherited Metabolic Disease
Charlotte Spicher, Ruth Schneider, Peter Mönnings, Christiane Schneider-Gold, Dennis Kallenberg, Bilal Cevik, Carsten Lukas, Ralf Gold, Christos Krogias
Background: Duchenne muscular dystrophy (DMD) is an X-linked recessive skeletal muscle myopathy which is caused by mutations in the dystrophin gene. Lack of dystrophin also results to cardiomyopathy, which raises significantly the stroke risk in DMD-patients. However, data about therapeutic opportunities in the acute setting are scarce in literature. So far, only two cases receiving IV thrombolysis are described, one of them with fatal outcome. Method: Case report of a case of successful mechanical thrombectomy (MTE) in an acute ischemic stroke (AIS) patient with DMD and associated dilatative cardiomyopathy...
2018: Therapeutic Advances in Neurological Disorders
Louis F Dell'Osso, Richard W Hertle, Jonathan B Jacobs
PURPOSE: To describe the effects of extraocular muscle extirpation performed after previous eye muscle surgery in a 20-year-old woman with infantile nystagmus syndrome (INS) for whom we have 19 years of follow-up data. METHODS: Clinical examinations were performed. Eye movement data analysis was carried out using the eXpanded Nystagmus Acuity Function (NAFX) and longest foveation domain (LFD). RESULTS: The patient re-presented to the authors at age 20, 2 years after bilateral anterior myectomy of the horizontal rectus muscles, bilateral anterior nasal transposition of the inferior oblique muscle, and bilateral superior oblique recessions...
March 13, 2018: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Zahraa Haidar, Nadine Jalkh, Sandra Corbani, Ali Fawaz, Eliane Chouery, André Mégarbané
Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive neurometabolic disorder. In the classical form, seizures are observed within the first month of life, while in the atypical form seizures appear later in life, sometimes as late as at the age of 3 years of life. Both types are unresponsive to conventional anticonvulsant therapy, but can be controlled with pyridoxine monotherapy. Mutations in the ALDH7A1 gene, encoding α-aminoadipic semialdehyde dehydrogenase have been reported to cause this disease in most patients...
March 10, 2018: Seizure: the Journal of the British Epilepsy Association
Qiang Zhang, Chuan Xia, Lichao Zhang, Chunhao Dong, Xu Liu, Xiuying Kong
Leaf senescence is an important agronomic trait that affects both crop yield and quality. In this study, we characterized a premature leaf senescence mutant of wheat ( Triticum aestivum L.) obtained by ethylmethane sulfonate (EMS) mutagenesis, named m68 . Genetic analysis showed that the leaf senescence phenotype of m68 is controlled by a single recessive nuclear gene. We compared the transcriptome of wheat leaves between the wild type (WT) and the m68 mutant at four time points. Differentially expressed gene (DEG) analysis revealed many genes that were closely related to senescence genes...
March 10, 2018: International Journal of Molecular Sciences
Gisella Vischini, Meghan E Kapp, Ferrin C Wheeler, Laszlo Hopp, Agnes B Fogo
Alport syndrome is due to mutations in one of the genes encoding (α3,4,5) type IV collagen resulting in defective type IV collagen, a key component of the glomerular basement membrane (GBM). The GBM is initially thin, and with ongoing remodeling, develops a thickened basket-woven appearance. We report a unique case of a 9-year-old boy who was biopsied for hematuria and proteinuria, diagnosed as IgA nephropathy, with normal GBM appearance and thickness. Due to a family history of hematuria and chronic kidney disease, he subsequently underwent genetic evaluation and a mutation of α3 type IV collagen (COL4A3) was detected...
March 9, 2018: Human Pathology
Anouar Bourghli, Safwat Abouhashem, Rami Abo Wali, Ibrahim Obeid, Louis Boissiere, Jean-Marc Vital, Mohammed Al Sarawan
PURPOSE: Gunshot injury to the spine can be devastating, and it has increased in the civilian population during the last decade. METHODS: We present the case of a 30-year-old male, who received a bullet in his back after exchange of fire with the police. Initial assessment revealed paraparesis with cerebrospinal fluid leak (CSF) from the bullet entry hole, CT scan showed metal debris with two bullet fragments in the L5/S1 right foramen and lateral recess, and another fragment in the central canal posteriorly, and also it revealed two fracture lines creating a right L5 "floating pedicle"...
March 10, 2018: European Spine Journal
K J Heaphy-Henault, C V Guimaraes, A R Mehollin-Ray, C I Cassady, W Zhang, N K Desai, M J Paldino
BACKGROUND AND PURPOSE: Congenital aqueductal stenosis is a common cause of prenatal ventriculomegaly. An accurate diagnosis provides prognostic information and may guide obstetric management. The purpose of this study was to identify specific anatomic findings on prenatal MR imaging that can be used as predictors of congenital aqueductal stenosis. MATERIALS AND METHODS: Prenatal and postnatal MRIs of fetuses referred to our institution for ventriculomegaly between June 2008 and August 2015 were reviewed...
March 8, 2018: AJNR. American Journal of Neuroradiology
Stefan Linsler, David Breuskin, Thomas Tschernig, Joachim Oertel
INTRODUCTION: The purpose of this study was to evaluate the effect of posterior septectomy size on surgical exposure and surgical freedom during the endoscopic transsphenoidal approach to the sellar and parasellar region. METHODS: A mononostril and binostril approach to the sellar region was performed on 4 formalin-fixed cadaveric heads. Predefined anatomical structures were identified. Additionally, a millimeter gauge was introduced into the surgical site and the extent of dorsal septectomy was analyzed for both approaches...
February 28, 2018: Annals of Anatomy, Anatomischer Anzeiger: Official Organ of the Anatomische Gesellschaft
Grace Chiu, Chris Chang, W Eugene Roberts
A 36-year-old woman with good periodontal health sought treatment for a compensated Class II partially edentulous malocclusion associated with a steep mandibular plane (SN-MP, 45°), 9 missing teeth, a 3-mm midline discrepancy, and compromised posterior occlusal function. She had multiple carious lesions, a failing fixed prostheses in the mandibular right quadrant replacing the right first molar, and a severely atrophic edentulous ridge in the area around the mandibular left first and second molars. After restoration of the caries, the mandibular left third molar served as anchorage to correct the mandibular arch crowding...
March 2018: American Journal of Orthodontics and Dentofacial Orthopedics
Won Jae Kim, Myung Mi Kim
BACKGROUND: To compare the rate of exodrift after a second surgery for recurrent exotropia, in patients grouped to fast versus slow exodrift after their first surgery. To determine whether there is a correlation with surgical outcome, and to evaluate the factors associated with fast exodrift. METHODS: Patients with recurrent intermittent exotropia, who underwent contralateral lateral rectus recession and medial rectus resection as the second surgery and were followed up for 24 months postoperatively between January 1991 and January 2013, were reviewed retrospectively...
March 2, 2018: BMC Ophthalmology
Filofteia Tacea, Edward Loane, Andre Grixti, Ian B Marsh, Kimia Ziahosseini
PURPOSE: Rectus muscle resection in thyroid eye disease (TED) is generally avoided due to the risk of worsening restriction or reactivating inflammation. However, for some patients with large-angle strabismus or diplopia in primary gaze despite maximum recession surgery, rectus muscle resection may be beneficial. We report our surgical experience with rectus muscle resection in the management of vertical strabismus associated with TED. METHODS: Retrospective review of eight patients with TED and vertical diplopia who underwent vertical rectus muscle resection by a single surgeon (IBM) at a tertiary referral centre in Liverpool, UK, from 2001 to 2013...
February 27, 2018: Strabismus
Sebastian Silva, Noriko Miyake, Carolina Tapia, Naomichi Matsumoto
Prolyl endopeptidase-like (PREPL) deficiency (MIM# 616224) is a rare autosomal recessive inherited congenital myasthenic syndrome characterized by neonatal hypotonia, feeding problems, mild dysmorphism, and neuromuscular symptoms, followed by hyperphagia and obesity in later childhood. Some patients also exhibit growth deficits, sexual hormone deficiency, and cognitive impairments. This syndrome is caused by biallelic mutations in PREPL. To date, only one nucleotide deletion and seven small microdeletions in PREPL have been reported...
February 26, 2018: Journal of Human Genetics
Peter C van den Akker, Anna M G Pasmooij, Hans Joenje, Robert M W Hofstra, Gerard J Te Meerman, Marcel F Jonkman
Revertant mosaicism, or "natural gene therapy", is the phenomenon in which germline mutations are corrected by somatic events. In recent years, revertant mosaicism has been identified in all major types of epidermolysis bullosa, the group of heritable blistering disorders caused by mutations in the genes encoding epidermal adhesion proteins. Moreover, revertant mosaicism appears to be present in all patients with a specific subtype of recessive epidermolysis bullosa. We therefore hypothesized that revertant mosaicism should be expected at least in all patients with recessive forms of epidermolysis bullosa...
2018: PloS One
Benjamin Wang, Daniel I Rosenthal, Chun Xu, Pari V Pandharipande, H Benjamin Harvey, Tarik K Alkasab, Ambrose J Huang
PURPOSE: The aim of this study was to assess differences in interreader variability among radiologists after the implementation of a computer-assisted reporting (CAR) tool for the interpretation of degenerative disc disease on lumbar spine MRI. METHODS: Thirty lumbar spine MRI examinations were selected from the radiology database. Five fellowship-trained musculoskeletal radiologists evaluated each L4-L5 disc in a blinded fashion and reported the findings using a traditional free dictation approach...
February 19, 2018: Journal of the American College of Radiology: JACR
Tessa van Dijk, Jan-Dirk Vermeij, Silvana van Koningsbruggen, Phillis Lakeman, Frank Baas, Bwee Tien Poll-The
Mutations in the SEPSECS gene are associated with pontocerebellar hypoplasia type 2D. Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare autosomal recessive neurodegenerative disorders, mainly affecting pons and cerebellum. Patients have severe motor and cognitive impairments and often die during infancy. Here, we report a 23-year-old woman with slowly progressive cerebellar ataxia and cognitive impairment, in whom a homozygous missense mutation in the SEPSECS gene (c.1321G>A; p.Gly441Arg) was identified with whole exome sequencing...
February 20, 2018: Journal of Inherited Metabolic Disease
Wei Liu, Hubert Löwenheim, Peter A Santi, Rudolf Glueckert, Annelies Schrott-Fischer, Helge Rask-Andersen
TMPRSS3 (Trans-membrane Serine Protease 3) is a type II trans-membrane serine protease that has proteolytic activity essential for hearing. Mutations in the gene cause non-syndromic autosomal recessive deafness (DFNB8/10) in humans. Knowledge about its cellular distribution in the human inner ear may increase our understanding of its physiological role and involvement in deafness, ultimately leading to therapeutic interventions. In this study, we used super-resolution structured illumination microscopy for the first time together with transmission electron microscopy to localize the TMPRSS3 protein in the human organ of Corti...
February 19, 2018: Cell and Tissue Research
Hsiu-Huei Peng, Sheng-Wen Shaw, Kuan-Gen Huang
OBJECTIVE: Glutaric aciduria type 1 is a rare disease, with the estimated prevalence about 1 in 100,000 newborns. GCDH gene mutation can lead to glutaric acid and 3- OH glutaric acid accumulation, with clinical manifestation of neuronal damage, brain atrophy, microencephalic macrocephaly, decreased coordination of swallowing, poor muscle coordination, spasticity, and severe dystonic movement disorder. CASE REPORT: A 22-year-old female, Gravida 4 Para 2, is pregnancy at 13 weeks of gestational age...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
Reza Najafi, Neda Mostofizadeh, Mahin Hashemipour
Tyrosinemia type III is an autosomal recessive disorder caused by the deficiency of 4- hydroxyphenylpyruvate dioxygenase (4-HPPD). It is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into the urine. Clinical findings of tyrosinemia type III include neurological symptoms and mental retardation. Only a few patients presenting with this disease have been described, and the clinical phenotype remains variable and unclear. We present a case, who was admitted to the hospital at the age of 4 months for recurrent seizures...
2018: Advanced Biomedical Research
Meeta Bathla, Hiren Doshi, Atul Kansara
Role of high resolution computerized tomography (HRCT) of temporal bone is established in cases of atticoantral chronic suppurative otitis media (CSOM) with intracranial complications. Routine use of HRCT in management of patients of atticoantral CSOM without intracranial complications has been an issue of debate. The aim of this study was to evaluate the routine use of HRCT of temporal bone in such cases. This study was a prospective study done at LG hospital, AMC MET Medical College, Ahmedabad to evaluate and compare the temporal bone findings in HRCT and intraoperative findings in 100 patients with atticoantral CSOM...
March 2018: Indian Journal of Otolaryngology and Head and Neck Surgery
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