Read by QxMD icon Read


Marie Hully, Juliette Ropars, Laurence Hubert, Nathalie Boddaert, Marlene Rio, Mathieu Bernardelli, Isabelle Desguerre, Valerie Cormier-Daire, Arnold Munnich, Pascale de Lonlay, Louise Reilly, Claude Besmond, Nadia Bahi-Buisson
Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), with recent descriptions of overlapping phenotypes. In AHC, a few familial cases of autosomal dominant inheritance have been reported, along with cases of de novo sporadic mutations. In contrast, autosomal dominant inheritance has frequently been associated with RDP and CAPOS...
October 10, 2016: Neurogenetics
Rubens Paulo A Salomão, Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Fernanda Maggi, José Luiz Pedroso, Orlando G P Barsottini
Herein, we report a patient that presented with late-onset progressive steppage gait, neuropathy and pes cavus, suggesting Charcot-Marie-Tooth (CMT) disease. Subsequent genetic investigation confirmed Friedreich's ataxia (FRDA). We demonstrate that late-onset Friedreich's ataxia (LOFA) may be a CMT mimicker. This case reinforces that other genetic conditions may clinically resemble CMT. The clinical similarities between CMT and FRDA include a symmetrical neuropathy (axonal in FRDA), steppage gait, and eventually scoliosis...
September 29, 2016: Cerebellum
H A Cavus, Rachel M Msetfi
When there is no contingency between actions and outcomes, but outcomes occur frequently, people tend to judge that they have control over those outcomes, a phenomenon known as the outcome density (OD) effect. Recent studies show that the OD effect depends on the duration of the temporal interval between action-outcome conjunctions, with longer intervals inducing stronger effects. However, under some circumstances OD effect is reduced, for example when participants are mildly depressed. We reasoned that working memory (WM) plays an important role in learning of context; with reduced WM capacity to process contextual information during intertrial intervals (ITIs) during contingency learning might lead to reduced OD effects (limited capacity hypothesis)...
September 20, 2016: Acta Psychologica
Hikaru Kanemasa, Ryoko Fukai, Yasunari Sakai, Michiko Torio, Noriko Miyake, Sooyoung Lee, Hiroaki Ono, Satoshi Akamine, Kei Nishiyama, Masafumi Sanefuji, Yoshito Ishizaki, Hiroyuki Torisu, Hirotomo Saitsu, Naomichi Matsumoto, Toshiro Hara
BACKGROUND: Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that manifests recurrent attacks of hemiplegia, oculogyric, and choreoathetotic involuntary movements. De novo mutations in ATP1A3 cause three types of neurological diseases: AHC; rapid-onset dystonia-Parkinsonism (RDP); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndromes. It remains to be determined whether or not a rare mutation in ATP1A3 may cause atypical phenotypes...
2016: BMC Neurology
Mary Kearney, Richard W Orrell, Michael Fahey, Ruth Brassington, Massimo Pandolfo
BACKGROUND: Friedreich ataxia is a rare inherited autosomal recessive neurological disorder, characterised initially by unsteadiness in standing and walking, slowly progressing to wheelchair dependency usually in the late teens or early twenties. It is associated with slurred speech, scoliosis, and pes cavus. Heart abnormalities cause premature death in 60% of people with the disorder. There is no easily defined clinical or biochemical marker and no known treatment. This is the second update of a review first published in 2009 and previously updated in 2012...
2016: Cochrane Database of Systematic Reviews
Megan E R Balsdon, Kristen M Bushey, Colin E Dombroski, Marie-Eve LeBel, Thomas R Jenkyn
The structure of the medial longitudinal arch (MLA) affects the foot's overall function and its ability to dissipate plantar pressure forces. Previous research on the MLA includes measuring the calcaneal-first metatarsal angle using a static sagittal plane radiograph, a dynamic height-to-length ratio using marker clusters with a multisegment foot model, and a contained angle using single point markers with a multisegment foot model. The objective of this study was to use biplane fluoroscopy to measure a contained MLA angle between foot types: pes planus (low arch), pes cavus (high arch), and normal arch...
October 1, 2016: Journal of Biomechanical Engineering
Yurdal Gezercan, Gökhan Çavuş, Ali Ihsan Ökten, Güner Menekşe, Mustafa Çikili, Fulya Adamhasan, Ali Arslan, Vedat Açik
OBJECTIVE: Currently, anterior, posterior or combined approaches are used in various spinal disorders. However, a single-stage posterolateral transpedicular approach with 360-degree stabilization and vertebrectomy provides better results for spinal tumors. METHODS: We evaluated the age, gender distribution, presenting symptoms, neurological examination findings according to the pre- and post-operative Frankel classification, pre- and post-operative VAS pain scores, pre-operatively administered medical therapies, pre- and post-operative corset use, level of the lesion, levels of previous surgical interventions, root ligation (if performed), results of the primary disease, hospitalization duration (after the operation), post-operative complications (if any), post-operative follow-up duration and post-operative survival duration of 22 patients...
August 12, 2016: World Neurosurgery
Ahmet Özbilgin, İbrahim Çavuş, Ahmet Yıldırım, Cumhur Gündüz
Plasmodium knowlesi is now added to the known four Plasmodium species (P.vivax, P.falciparum, P.malariae, P.ovale) as a cause of malaria in humans because of the recent increasing rate of cases reported from countries of southeastern Asia. P.knowlesi which infects macaque monkeys (Macaca fascicularis and M.nemestrina) is transmitted to humans especially by Anopheles leucosphyrus and An.hackeri mosquitos. First human cases of P.knowlesi malaria have been detected in Malaysia which have reached high numbers in recent years and also have been reported from countries of Southeast Asia such as Thailand, Philippines, Myanmar, Singapore and Vietnam...
July 2016: Mikrobiyoloji Bülteni
Gregory P Guyton
Osteotomies of the calcaneus are powerful surgical tools, representing a critical component of the surgical reconstruction of pes planus and pes cavus deformity. Modern minimally invasive calcaneal osteotomies can be performed safely with a burr through a lateral incision. Although greater kerf is generated with the burr, the effect is modest, can be minimized, and is compatible with many fixation techniques. A hinged jig renders the procedure more reproducible and accessible.
September 2016: Foot and Ankle Clinics
K Heck, A Heck, R Placzek
OBJECTIVE: Pain-free, plantigrade, functional foot through gentle manipulation without extended surgery and with decreased probability of relapse. INDICATIONS: Idiopathic clubfoot; neurogenic and secondary clubfeet. CONTRAINDICATIONS: None. SURGICAL TECHNIQUE: Simultaneous correction of all components of the clubfoot. Mainly conservative, with serial casts. Slight supination to address the cavus and increasing abduction to align the midfoot bones while putting counter-pressure on the head of the talus...
August 3, 2016: Operative Orthopädie und Traumatologie
Carola Hedberg-Oldfors, Niklas Darin, Mia Olsson Engman, Zacharias Orfanos, Christer Thomsen, Peter F M van der Ven, Anders Oldfors
We describe a new early-onset neuromuscular disorder due to a homozygous loss-of-function variant in the kyphoscoliosis peptidase gene (KY). A 7.5-year-old girl with walking difficulties from 2 years of age presented with generalized muscle weakness; mild contractures in the shoulders, hips and feet; cavus feet; and lordosis but no scoliosis. She had previously been operated with Achilles tendon elongation. Whole-body MRI showed atrophy and fatty infiltration in the calf muscles. Biopsy of the vastus lateralis muscle showed variability in fiber size, with some internalized nuclei and numerous very small fibers with variable expression of developmental myosin heavy chain isoforms...
August 3, 2016: European Journal of Human Genetics: EJHG
Charlene Grech, Cynthia Formosa, Alfred Gatt
BACKGROUND: This study explored the relationship between foot types and corresponding variations in shock attenuating properties of the heel. METHODS: Thirty matched participants were assigned to 3 groups: pronated, neutral, and supinated. A low-mass accelerometer was mounted to the calcaneus of the right leg of each participant. RESULTS: Acceleration at heel strike for supinators was significantly higher than that in individuals with pronated and neutrally aligned feet...
September 2016: Journal of Orthopaedics
Thomas H Holm, Karin Lykke-Hartmann
The transmembrane Na(+)-/K(+) ATPase is located at the plasma membrane of all mammalian cells. The Na(+)-/K(+) ATPase utilizes energy from ATP hydrolysis to extrude three Na(+) cations and import two K(+) cations into the cell. The minimum constellation for an active Na(+)-/K(+) ATPase is one alpha (α) and one beta (β) subunit. Mammals express four α isoforms (α1-4), encoded by the ATP1A1-4 genes, respectively. The α1 isoform is ubiquitously expressed in the adult central nervous system (CNS) whereas α2 primarily is expressed in astrocytes and α3 in neurons...
2016: Frontiers in Physiology
Manuele Lampasi, Giovanni Trisolino, Caterina Novella Abati, Alessio Bosco, Leonardo Marchesini Reggiani, Costantina Racano, Stefano Stilli
PURPOSE: The modality of progression of the correction along casting sessions of Ponseti method has been poorly investigated and information regarding evolution of muscular abnormalities is missing. The aim of the study was to investigate dynamics of correction of the different components of clubfoot deformity in a clinical setting. METHODS: In a prospective study, 124 clubfeet consecutively treated by a single orthopaedic surgeon were evaluated with the Dimeglio system at each casting session and score progression was determined...
June 28, 2016: International Orthopaedics
Zhanyong Mei, Kamen Ivanov, Guoru Zhao, Huihui Li, Lei Wang
In the study of biomechanics of different foot types, temporal or spatial parameters derived from plantar pressure are often used. However, there is no comparative study of complexity and regularity of the center of pressure (CoP) during the stance phase among pes valgus, pes cavus, hallux valgus and normal foot. We aim to analyze whether CoP sample entropy characteristics differ among these four foot types. In our experiment participated 40 subjects with normal feet, 40 with pes cavus, 19 with pes valgus and 36 with hallux valgus...
June 16, 2016: Medical & Biological Engineering & Computing
Ananth S Eleswarapu, Bakhtiar Yamini, Robert J Bielski
The cavus foot is a deformity characterized by abnormal elevation of the medial arch of the foot. Unique among foot deformities, cavus typically occurs secondary to a spinal cord or neuromuscular pathology, with two-thirds of patients having an underlying neurologic diagnosis. Thus, recognition of cavus foot and appropriate evaluation are essential in the primary care setting. Patients may present with unstable gait, frequent ankle sprains, or pain along the metatarsal heads or the lateral border of the foot...
June 1, 2016: Pediatric Annals
Barbara Borroni, Eleonora Di Gregorio, Laura Orsi, Giovanna Vaula, Chiara Costanzi, Filippo Tempia, Nico Mitro, Donatella Caruso, Marta Manes, Lorenzo Pinessi, Alessandro Padovani, Alfredo Brusco, Loredana Boccone
INTRODUCTION: SCA38 (MIM 611805) caused by mutations within the ELOVL5 gene, which encodes an enzyme involved in the synthesis of long-chain fatty acids with a high and specific expression in Purkinje cells, has recently been identified. OBJECTIVE: The present study was aimed at describing the clinical and neuroimaging features, and the natural history of SCA38. METHODS: We extended our clinical and brain neuroimaging data on SCA38 including 21 cases from three Italian families...
July 2016: Parkinsonism & related Disorders
Idil Çavuş, Jonathan C Romanyshyn, Jeremy T Kennard, Pue Farooque, Anne Williamson, Tore Eid, Susan S Spencer, Robert Duckrow, James Dziura, Dennis D Spencer
OBJECTIVE: Aberrant glutamate and γ-aminobutyric acid (GABA) neurotransmission contribute to seizure generation and the epileptic state. However, whether levels of these neurochemicals are abnormal in epileptic patients is unknown. Here, we report on interictal levels of glutamate, glutamine, and GABA in epilepsy patients at seizure onset and nonepileptic sites, cortical lesions, and from patients with poorly localized neocortical epilepsies. METHODS: Subjects (n = 79) were medically refractory epilepsy patients undergoing intracranial electroencephalogram evaluation...
July 2016: Annals of Neurology
Beril Anilanmert, Fatma Çavuş, Ibrahim Narin, Salih Cengiz, Şefika Sertler, Ali Acar Özdemir, Münevver Açikkol
Date-rape drugs have the potential to be used in drug-facilitated sexual assault, organ theft and property theft. Since they are colorless, tasteless and odorless, victims can drink without noticing, when added to the beverages. These drugs must be detected in time, before they are cleared up from the biofluids. A simultaneous extraction and determination method in urine for GHB, ketamine, norketamine, phenobarbital, thiopental, zolpidem, zopiclone and phenytoin (an anticonvulsant and antiepileptic drug) with LC-MS/MS was developed for the first time with analytically acceptable recoveries and validated...
June 1, 2016: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
Hosam E Matar, Peter Bierne, Colin E Bruce, Neeraj K Garg
: Complex idiopathic clubfeet are distinguished by significant shortening, rigid equinus with a deep crease above the heel, severe plantar flexion of all metatarsals, a deep plantar crease seven across the full width of the sole of the foot and high cavus with a short and hyperextended big toe. Ponseti has devised a modified technique for treating complex clubfeet. We retrospectively identified 11 children (nine males and two females) with 17 complex clubfeet who were treated with the modified Ponseti method...
April 21, 2016: Journal of Pediatric Orthopedics. Part B
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"