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https://www.readbyqxmd.com/read/28804760/autopsy-case-of-the-c12orf65-mutation-in-a-patient-with-signs-of-mitochondrial-dysfunction
#1
Hideaki Nishihara, Masatoshi Omoto, Masaki Takao, Yujiro Higuchi, Michiaki Koga, Motoharu Kawai, Hiroo Kawano, Eiji Ikeda, Hiroshi Takashima, Takashi Kanda
OBJECTIVE: To describe the autopsy case of a patient with a homozygous 2-base deletion, c171_172delGA (p.N58fs), in the C12orf65 gene. METHODS: We described the clinical history, neuroimaging data, neuropathology, and genetic analysis of the patients with C12orf65 mutations. RESULTS: The patient was a Japanese woman with a history of delayed psychomotor development, primary amenorrhea, and gait disturbance in her 20s. She was hospitalized because of respiratory failure at the age of 60...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28801041/diagnosis-of-delayed-diffuse-axonal-%C3%A4-njury
#2
Çağri Kokkoz, Mehmet Irik, Halil I Dayangaç, Mustafa Hayran, Adnan Bilge, Musa Çavuş
Diffuse axonal injury is usually caused by head trauma, and patients have significant clinical symptoms during admission to the emergency department. In our case, we present a five-year-old patient who was involved in a car accident. During admission to the emergency department, the patient had no symptoms of trauma. However, 6 h after admission to emergency service, neurological symptoms occurred, and mental status changed. Diffuse axonal injury (DAI) is characterized by diffuse nerve axon injury in the brain and brainstem...
August 4, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28757828/comparison-of-infracondylar-versus-subsartorial-approach-to-saphenous-nerve-block-a-randomized-controlled-study
#3
L Sahin, M L Eken, M Isik, O Cavus
BACKGROUND AND OBJECTIVES: Only a few different approaches are currently utilized for saphenous nerve block. Our study aimed to compare two different ultrasound (US)-guided saphenous nerve blocks and designed this study to test the hypothesis that the medial infracondylar approach has more success rate than the subsartorial approach applied in saphenous nerve blockage. METHODS: The study included 76 patients (18-65 years old) with the American Society of Anesthesiologists physical status of I-III, who were scheduled for below-knee surgery by the orthopedics clinic...
July 2017: Saudi Journal of Anaesthesia
https://www.readbyqxmd.com/read/28736620/peroneal-tendon-disorders
#4
REVIEW
Kinner Davda, Karan Malhotra, Paul O'Donnell, Dishan Singh, Nicholas Cullen
Pathological abnormality of the peroneal tendons is an under-appreciated source of lateral hindfoot pain and dysfunction that can be difficult to distinguish from lateral ankle ligament injuries.Enclosed within the lateral compartment of the leg, the peroneal tendons are the primary evertors of the foot and function as lateral ankle stabilisers.Pathology of the tendons falls into three broad categories: tendinitis and tenosynovitis, tendon subluxation and dislocation, and tendon splits and tears. These can be associated with ankle instability, hindfoot deformity and anomalous anatomy such as a low lying peroneus brevis or peroneus quartus...
June 2017: EFORT open reviews
https://www.readbyqxmd.com/read/28718240/ponseti-technique-for-management-of-congenital-idiopathic-club-foot
#5
Muhammad Qaisar Shah, Alamzeb Khan, Muhammad Shoaib Zardad, Rizwana Iqbal, Sajjad Ahmed
BACKGROUND: Clubfoot or congenital talipes equinovarus, is a congenital deformity of the foot. It consists of cavus, adduction, varus and equinus. This is due to medial displacement of navicular and calcaneus around the talus. Talus is in equinus. Medial deviation of the head and neck of talus is due to force of calcaneus on talus. METHODS: This descriptive case series study was conducted at Orthopaedic unit, Ayub Teaching Hospital, Abbottabad from 1st August 2015 to 31st January 2016 to determine the frequency of idiopathic clubfoot correction, by using the Ponseti method...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28677222/riga-fede-disease-in-the-upper-jaw-in-an-infant
#6
Şule Çavuş, Bilal Özmen
Riga-Fede disease is a benign and uncommon mucosal disorder. This illness is an ulceration of the oral mucosa and arises from repetitive traumatic injuries. The disease is usually caused by the sharp edges of new erupted teeth. The aim of the present case report is to present Riga-Fede disease and its treatment. We reported a 11-month-old healthy female infant diagnosed as Riga-Fede disease based on clinical features. After the conservative treatment that focused on eliminating the source of trauma, total healing was observed...
July 4, 2017: Dermatologic Therapy
https://www.readbyqxmd.com/read/28647130/fever-induced-paroxysmal-weakness-and-encephalopathy-a-new-phenotype-of-atp1a3-mutation
#7
Sho T Yano, Kenneth Silver, Richard Young, Suzanne D DeBrosse, Roseànne S Ebel, Kathryn J Swoboda, Gyula Acsadi
BACKGROUND: We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype, distinct from alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndromes. METHODS: Four patients with c.2267G>A (R756H) mutations from two families and two patients with c.2267G>T (R756L) mutations from one family are described and compared with the previously reported patients with mutations resulting in R756H and R756C protein variants...
August 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28632733/ponseti-method-in-the-management-of-clubfoot-under-2-years-of-age-a-systematic-review
#8
Balasankar Ganesan, Ameersing Luximon, Adel Al-Jumaily, Suchita Kothe Balasankar, Ganesh R Naik
BACKGROUND: Congenital talipes equinovarus (CTEV), also known as clubfoot, is common congenital orthopedic foot deformity in children characterized by four components of foot deformities: hindfoot equinus, hindfoot varus, midfoot cavus, and forefoot adduction. Although a number of conservative and surgical methods have been proposed to correct the clubfoot deformity, the relapses of the clubfoot are not uncommon. Several previous literatures discussed about the technical details of Ponseti method, adherence of Ponseti protocol among walking age or older children...
2017: PloS One
https://www.readbyqxmd.com/read/28630759/the-adult-cavus-foot
#9
Carlos Maynou, Christophe Szymanski, Alexis Thiounn
Cavovarus deformity can be classified by the severity of malalignment ranging from a subtle and flexible to a severe and fixed cavovarus deformity of the foot.In the mild cavovarus foot, careful clinical assessment is required to identify the deformity.Weight-bearing radiographs are necessary to indicate the apex of the deformity and quantify the correction required.Surgery is performed when conservative measures fail and various surgical procedures have been described, including a combination of soft-tissue releases, tendon transfers and osteotomies, all with the aim of achieving a plantigrade and balanced foot...
May 2017: EFORT open reviews
https://www.readbyqxmd.com/read/28617260/pes-planus-and-pes-cavus-in-southern-italy-a-5-years-study
#10
Gianmarco Troiano, Nicola Nante, Guglielmo Lucio Citarelli
INTRODUCTION: Baropodometrical digital techniques map the pressures exerted on the foot plant during both static and dynamic loadings. The study of the distribution of such pressures makes it possible to evaluate the postural and locomotory biomechanics together with its pathological variations. METHODS: From January 2011 to August 2016 we conducted a cross sectional study in order to diagnose flatfoot and hollowfoot through the baropodometric analysis, and collecting additional information such as gender and the age...
April 2017: Annali Dell'Istituto Superiore di Sanità
https://www.readbyqxmd.com/read/28609893/twenty-seven-new-species-of-the-goblin-spider-genus-i-neoxyphinus-i-birab%C3%A3-n-1953%C3%A2-araneae-oonopidae-from-brazil
#11
Níthomas M Feitosa, Daniella F Moss, Gustavo R S Ruiz, Alexandre B Bonaldo
Twenty-seven new species of the genus Neoxyphinus are described, all from Brazil, raising the total number of species of the genus to 48. The new species with the respective geographic distribution and known sexes are: N. capiranga sp. nov. (♂♀) from Amazonas, Pará, Mato Grosso and Rondônia; N. caprichoso sp. nov. (♂♀) and N. garantido sp. nov. (♂♀) from Amazonas and Pará; N. crasto sp. nov. (♂♀) from Bahia and Sergipe; N. murici sp. nov. (♂♀) from Alagoas and Sergipe; N. meurei sp. nov...
May 4, 2017: Zootaxa
https://www.readbyqxmd.com/read/28587839/leishmaniasis-in-turkey-visceral-and-cutaneous-leishmaniasis-caused-by-leishmania-donovani-in-turkey
#12
Ahmet Özbilgin, Mehmet Harman, Mehmet Karakuş, Aldert Bart, Seray Töz, Özgür Kurt, İbrahim Çavuş, Erdal Polat, Cumhur Gündüz, Tom Van Gool, Yusuf Özbel
In Turkey, the main causative agents are Leishmania tropica (L. tropica) and Leishmania infantum (L. infantum) for cutaneous leishmaniasis (CL) and L. infantum for visceral leishmaniasis (VL). In this study, we investigated leishmaniasis cases caused by L. donovani and established animal models for understanding its tropism in in vivo conditions. Clinical samples (lesion aspirations and bone marrow) obtained from CL/VL patients were investigated using parasitological (smear/NNN) and DNA-based techniques. For species identification, a real time ITS1-PCR was performed using isolates and results were confirmed by hsp70 PCR-N/sequencing and cpb gene PCR/sequencing in order to reveal Leishmania donovani and Leishmania infantum discrimination...
June 3, 2017: Acta Tropica
https://www.readbyqxmd.com/read/28560138/arthroscopically-assisted-modified-jones-procedure
#13
Tun Hing Lui
The modified Jones procedure is the classic operative treatment of symptomatic clawed hallux. It is composed of transfer of the extensor hallucis longus tendon to the first metatarsal neck and fusion of the hallux interphalangeal joint. The purpose of this technical note is to report the technique of an arthroscopically assisted modified Jones procedure. This can be combined with other minimally invasive bone and soft-tissue procedures to correct all aspects of the complex cavus foot deformity.
December 2016: Arthroscopy Techniques
https://www.readbyqxmd.com/read/28510756/classification-of-videolaryngoscopes-is-crucial
#14
E Cavus, C Byhahn, V Dörges
No abstract text is available yet for this article.
May 1, 2017: British Journal of Anaesthesia
https://www.readbyqxmd.com/read/28509084/whole-exome-sequencing-identifies-a-novel-homozygous-frameshift-mutation-in-the-mtmr2-gene-as-a-causative-mutation-in-a-patient-with-charcot-marie-tooth-disease-type-4b1
#15
Tameemi Abdalla-Moady, Amir Peleg, Orit Sadeh, Khader Badarneh, Fuad Fares
Charcot-Marie-Tooth (CMT) disease refers to a heterogeneous group of axonal and demyelinating polyneuropathies, characterized by chronic motor and sensory dysfunction. CMT is the most common genetic cause of neuropathy. The present study aimed to identify the gene mutation responsible for CMT in Ashkenazi Jew (AJ) patient. Genomic DNA was extracted from whole blood leukocytes of affected family and normal subject. Whole-exome sequencing was performed using the Illumina HiSeq2500. The DNA region containing the identified mutation was amplified by PCR and sequenced using dye-terminator chemistry and the forward primer...
May 16, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28503539/differences-in-pes-planus-and-pes-cavus-subtalar-eversion-inversion-before-and-after-prolonged-running-using-a-two-dimensional-digital-analysis
#16
Charlotte Sinclair, Ulla Svantesson, Rita Sjöström, Marie Alricsson
In sports, there is a constant discussion about the hyper-pronation and supination of the foot during loading and its relation to injuries or discomfort. The purpose of the present study was to investigate the possible differences in the subtalar joint in the midstance phase of running, between individuals with Pes Planus and Pes Cavus, after 5 min and 45 min of running. Thirty-four subjects, meeting the requirements for Pes Planus (30 feet) and Pes Cavus (35 feet), according to the criteria for Medial Longitudinal Arch-angle, were included in the study...
April 2017: Journal of Exercise Rehabilitation
https://www.readbyqxmd.com/read/28502349/total-ankle-replacement-in-the-presence-of-talar-varus-or-valgus-deformities
#17
REVIEW
Andrew Dodd, Timothy R Daniels
Patients presenting with end-stage ankle arthritis with coronal plane talar deformities have a variety of complex multidirectional deformities that require careful preoperative assessment and a clear understanding of the pathophysiology. Surgeons managing these patients with total ankle arthroplasty need to be familiar with extra-articular and intra-articular surgical methods to correct pes planus and pes cavus deformities, including bony procedures and soft tissue procedures. Performing these procedures in 1 or 2 stages depends on surgeon preference and the severity of the deformities...
June 2017: Foot and Ankle Clinics
https://www.readbyqxmd.com/read/28483396/early-diagnosis-of-capos-syndrome-before-acute-onset-ataxia-review-of-the-literature-and-a-new-family
#18
Anna Duat Rodriguez, Michaela Prochazkova, Saturnino Santos Santos, Oscar Rubio Cabezas, Veronica Cantarin Extremera, Luis Gonzalez-Gutierrez-Solana
BACKGROUND: CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far. In all cases, the mutation c.2452G>A (p.Glu818Lys) in the ATP1A3 gene was identified. Patients typically present at an early age with an acute-onset fever-induced episode of ataxia frequently associated with encephalopathy and weakness. They usually present one to three episodes. The acute symptoms improve within days, but most patients show slow progression afterward...
June 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28442207/tibio-talo-calcaneal-fusion-after-limb-salvage-procedures-a-retrospective-study
#19
Lukas Zak, Gerald E Wozasek
BACKGROUND: The treatment of limb threatening trauma on the distal tibia or hindfoot often results in posttraumatic osteoarthritis requiring tibiotalocalcaneal (TTC) arthrodesis. The purpose of this study was to present a case series of patients undergoing various techniques of joint fusion after bone reconstruction and deformity correction as a salvage procedure. The study should help trauma surgeons making decisions in limb salvage and deformity correction in complex lower leg and foot injuries by presenting options and treatment strategies...
April 15, 2017: Injury
https://www.readbyqxmd.com/read/28375749/immunization-with-recombinantly-expressed-lrp4-induces-experimental-autoimmune-myasthenia-gravis-in-c57bl-6-mice
#20
Canan Ulusoy, Filiz Çavuş, Vuslat Yılmaz, Erdem Tüzün
BACKGROUND: Myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction (NMJ), characterized with muscle weakness. While MG develops due to acetylcholine receptor (AChR) antibodies in most patients, antibodies to muscle-specific receptor tyrosine kinase (MuSK) or low-density lipoprotein receptor-related protein 4 (LRP4) may also be identified. Experimental autoimmune myasthenia gravis (EAMG) has been previously induced by both LRP4 immunization and passive transfer of LRP4 antibodies...
July 2017: Immunological Investigations
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