Related ArticlesAssociation of the serum irisin level with obstructive sleep apnea: a body mass index- and physical activity-matched study. Endocr J. 2020 Mar 18;: Authors: Huang W, Liu Y, Xu H, Zhu H, Guan J, Yi H, Zou J Abstract Obesity is strongly correlated with the pathogenesis of obstructive sleep apnea (OSA); myokines may play important roles in this condition. We performed a body mass index- (BMI) and physical activity- (PA) matched study to...
Related ArticlesCardiovascular disease in patients with chronic obstructive pulmonary disease, obstructive sleep apnoea syndrome and overlap syndrome. Curr Vasc Pharmacol. 2020 Mar 17;: Authors: Voulgaris A, Archontogeorgis K, Steiropoulos P, Papanas N Abstract Chronic obstructive pulmonary disease (COPD) and obstructive sleep apnoea syndrome (OSAS) are among the most prevalent chronic respiratory disorders. Accumulating data suggest that there is a...
Related ArticlesAssociation of Sleep Characteristics With Nocturnal Hypertension and Nondipping Blood Pressure in the CARDIA Study. J Am Heart Assoc. 2020 Apr 07;9(7):e015062 Authors: Thomas SJ, Booth JN, Jaeger BC, Hubbard D, Sakhuja S, Abdalla M, Lloyd-Jones DM, Buysse DJ, Lewis CE, Shikany JM, Schwartz JE, Shimbo D, Calhoun D, Muntner P, Carnethon MR Abstract Background Sleep characteristics and disorders are associated with higher blood pressure...
Related ArticlesA Decentralized Peer-to-Peer Remote Health Monitoring System. Sensors (Basel). 2020 Mar 16;20(6): Authors: Ali MS, Vecchio M, Putra GD, Kanhere SS, Antonelli F Abstract Within the Internet of Things (IoT) and blockchain research, there is a growing interest in decentralizing health monitoring systems, to provide improved privacy to patients, without relying on trusted third parties for handling patients' sensitive health data. With public...
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Publication date: Available online 21 March 2020Source: TalantaAuthor(s): Alexander Samokhvalov
Publication date: Available online 21 March 2020Source: TalantaAuthor(s): Elyas Hosseinzadeh, Hadi RCavan, Abbas Mohammadi, Hossein Pourghadamyari
Publication date: Available online 20 March 2020Source: TalantaAuthor(s): Arinori Inagawa, Asuka Sasaki, Nobuo Uehara
Publication date: Available online 20 March 2020Source: TalantaAuthor(s): Jing Zhou, Weicheng Chu, Dong Lu, Jixin Liu, Xuefei Mao, Xing Na, Shanshan Zhang, Yongzhong Qian
Publication date: Available online 20 March 2020Source: TalantaAuthor(s): Marlei Veiga, Patricia Mattiazzi, Jefferson S. Gois, Paulo C. Nascimento, Daniel L.G. Borges, Denise Bohrer
Publication date: Available online 20 March 2020Source: TalantaAuthor(s): Fernanda da Silva Nogueira, Fausto Moreira Araujo, Lucas Vinícius de Faria, Thalles Pedrosa Lisboa, Gustavo Chevitarese Azevedo, Rafael Machado Dornellas, Maria Auxiliadora Costa Matos, Renato Camargo Matos
Publication date: Available online 20 March 2020Source: TalantaAuthor(s): Shimaa Eissa, Shahad Alkhaldi, Raja Chinnappan, Ayesha Siddiqua, Mai Abduljabbar, Anas M. Abdel Rahman, Majed Dasouki, Mohammed Zourob
Publication date: Available online 20 March 2020Source: TalantaAuthor(s): Zhonghui Guo, Yuan Jiao, Fangfang Du, Yifang Gao, Wenjing Lu, Shaomin Shuang, Chuan Dong, Yu Wang
Publication date: Available online 20 March 2020Source: TalantaAuthor(s): Sarmento J. Mazivila, Ricardo N.M.J. Páscoa, Rafael C. Castro, David S.M. Ribeiro, João L.M. Santos
Publication date: Available online 19 March 2020Source: TalantaAuthor(s): Marlin J. Pedrozo-Penafiel, Jarol R. Miranda-Andrades, Luis M. Gutierrez-Beleño, Dunieskys G. Larrudé, Ricardo Q. Aucelio
Publication date: Available online 19 March 2020Source: TalantaAuthor(s): Eoin Murray, Patrick Roche, Matthieu Briet, Breda Moore, Aoife Morrin, Dermot Diamond, Brett Paull
Publication date: Available online 19 March 2020Source: TalantaAuthor(s): Agnese D'Agostino, Andrea Mario Giovannozzi, Luisa Mandrile, Alessio Sacco, Andrea Mario Rossi, Angelo Taglietti
Publication date: Available online 19 March 2020Source: TalantaAuthor(s): Wenlan Chen, Ge Gao, Yan Jin, Chunyan Deng
Publication date: Available online 19 March 2020Source: TalantaAuthor(s): Iuri Dias Manfro, Mariane Tegner, Maria Eduarda Krutzmann, Andiara do Carmo Artmann, Marcos Roberto Brandeburski, Giovana Piva Peteffi, Rafael Linden, Marina Venzon Antunes
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Abstract Detecting hearing loss in the absence of any known organic disorders poses a challenge for audiologists. Compared with behavioral tests, electrophysiological and electroacoustic methods are considered to be more up to date and reliable for detecting false and exagerrated hearing loss (FEHL). Auditory steady state response (ASSR) test can be used to detect FEHL considering the advantages of speed and accuracy of the method. However, very little is known about using ASSR to detect FEHL...
Abstract Objectives To determine the agreement of pediatric otolaryngologists on classifying laryngomalacia (LM) Design Intra‐ and interobserver agreement study of two classification systems Setting Three tertiary referral pediatric centers. Participants Three pediatric otolaryngologists, who were blinded to any clinical details, interpreted the videos of children diagnosed with LM using the Holinger and Olney classifications independently. They rated the videos...
Abstract Facial nerve schwannoma (FNS), is the most common tumor invading the facial nerve (FN). It is mainly centered on the geniculate ganglion (GG), although it can involve several segments of the nerve from the cerebellopontine angle (CPA) to the parotid gland 1,2. FNS is mostly revealed by progressive facial palsy, but also by sudden facial palsy which can recover after steroid therapy. In a smaller number of cases, hearing loss may be the only initial symptom 1,2.
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Objectives To determine if the internal branch of the superior laryngeal nerve (iSLN) provides direct motor innervation to the interarytenoid muscle, a laryngeal adductor critical for airway protection. We studied the iSLN‐evoked motor response in the interarytenoid and other laryngeal muscles. If the iSLN is purely sensory, there will be no detectable short latency motor response upon supramaximal stimulation, indicating the absence of a direct efferent conduction path. Study Design Intraoperative...
Objectives Few studies have reported that mood disorders increase the risk of benign paroxysmal positional vertigo (BPPV). The purpose of our study was to demonstrate whether the incidence of BPPV in those with mood disorders differs from that in a matched control group. Study Design Nationwide cohort observational study. Methods Korean Health Insurance Review and Assessment Service‐National Patient Samples were collected from 2002 to 2013. A 1:4 matched mood disorder group...
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Hypertriglyceridaemia is a rare cause of acute pancreatitis. Successful management involves the treatment of acute pancreatitis in conjunction with long‐term anti‐lipid therapy and optimisation of associated risk factors. Abstract Background Pancreatitis secondary to hypertriglyceridaemia is rare, accounting for less than 5% of pancreatitis presentations. We reviewed our institutional experience with triglyceridaemia induced acute pancreatitis to report the clinical presentation, patient...
The Victorian Audit of Surgical Mortality reviews all surgical deaths in the state and regularly reviews its own data for accuracy, but the data from hospitals that are the basis of referrals have never been assessed. This study suggests there are major concerns with the quality of the data submitted by hospitals. Abstract Background The Victorian Audit of Surgical Mortality (VASM) investigates all surgically related deaths in Victoria, Australia, as a surgical educational activity aimed...
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A case of G1013R FBN1 mutation: A potential genotype–phenotype correlation in severe Marfan syndrome
Abstract Marfan Syndrome (MFS) is an autosomal dominant connective tissue disorder with a wide range of severities. Ninety‐five percent of MFS probands have a mutation in the fibrillin‐1 gene (FBN1); however, there are a high number of unique mutations complicating attempts at establishing any phenotype–genotype correlations for this disease (Tiecke et al., European Journal of Human Genetics, 2001, 9, 13–21). One of the few extant genotype–phenotype correlations is in exon 24–32 which have been...
Abstract Congenital heart defects (CHD) are the most common birth defect and are both clinically and genetically heterogeneous. Truncus arteriosus (TA), characterized by a single arterial vessel arising from both ventricles giving rise to the coronary, pulmonary and systemic arteries, is rare and only responsible for 1% of all CHD. Two consanguineous families with TA were previously identified to have homozygous nonsense variants within the gene NKX2‐6. NKX2‐6 is a known downstream target of TBX1,...
Abstract We report the case of a Caucasian Spanish origin female who showed severe psychomotor developmental delay, hypotonia, strabismus, epilepsy, short stature, and poor verbal language development. Brain magnetic resonance imaging scans showed thickened corpus callosum, cortical malformations, and dilated and abnormal configuration of the lateral ventricles without hydrocephalus. Whole‐exome sequence uncovered a de novo variant in the microtubule associated serine/threonine kinase 1 gene (MAST1;...
Abstract Inherited glycosylphosphatidylinositol (GPI) deficiencies are a group of clinically and genetically heterogeneous conditions belonging to the congenital disorders of glycosylation. PIGW is involved in GPI biosynthesis and modification, and biallelic pathogenic variants in this gene cause autosomal recessive GPI biosynthesis defect 11. Only five patients and two fetuses have been reported in the literature thus far. Here we describe a new patient with a novel homozygous missense variant...
Abstract Neu–Laxova syndrome (NLS) is a lethal genetic multiple congenital anomaly syndrome of unknown prevalence representing the severe spectrum of serine biosynthesis defects associated with PHGDH, PSAT1, or PSP gene mutations. The purpose of this study was to describe clinical/molecular and pathologic features of a NLS case caused by novel heterozygous missense variant in PHGDH gene identified in his consanguineous parents.
Abstract Mowat–Wilson syndrome (MWS) is characterized clinically by a distinctive facial gestalt, intellectual disability, microcephaly, epilepsy, and nonobligatory congenital malformations such as Hirschsprung disease, urogenital anomalies, congenital heart disease, eye malformations. This article summarized the clinical features and molecular findings of 15 Chinese MWS patients. The results revealed a higher incidence of congenital heart disease in Chinese MWS patients compared to that previously...
Abstract While exome sequencing (ES) is commonly the final diagnostic step in clinical genetics, it may miss diagnoses. To clarify the limitations of ES, we investigated the diagnostic yield of genetic tests beyond ES in our Undiagnosed Diseases Network (UDN) participants. We reviewed the yield of additional genetic testing including genome sequencing (GS), copy number variant (CNV), noncoding variant (NCV), repeat expansion (RE), or methylation testing in UDN cases with nondiagnostic ES results....
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Abstract Objectives This study aimed to identify clinical and pathological characteristics of oral mucosal lesions that may be predictive of optical autofluorescence imaging patterns. Methods Clinical data and archival histopathological material were collected from patients who presented with at least one oral mucosal lesion and underwent assessment via conventional oral examination, optical autofluorescence imaging and histopathological analysis. An open source digital pathology...
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Abstract Discrepancies between actigraphic and self‐reported sleep measures are common. Studies of people with insomnia, in whom both sleep disturbances and discrepancy are common, suggest disturbances and discrepancy reflect differences in the sleeping brain's activity measurable using spectral electroencephalogram (EEG). Disentangling effects of discrepancy and disturbance on sleep EEG could help target research on the consequences and treatments of different sleep phenotypes. We therefore categorized...
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Abstract Background While use of total thyroidectomy has increased in management of hyperthyroidism, concerns exist about increased surgical complication rates; most notably, hematoma, recurrent laryngeal nerve (RLN) injury, and hypocalcemia. Methods Retrospective cohort study of 454 patients undergoing total thyroidectomy between 2003 and 2015. All patients had surgery for hyperthyroidism, benign euthyroid disease, or thyroid malignancy. Results Total thyroidectomy for...
Abstract Background A single institutional experience of stereotactic body radiation therapy (SBRT) to medically unfit patients with unresectable head and neck cancers (HNCs). Methods A retrospective review of HNC patients undergoing SBRT was undertaken from 2011 to 2016 for fractionation ranges between 35 and 50 Gy in 4 to 6 fractions. Results One hundred and fourteen patients with 117 SBRT courses were included with mean follow‐up of 10.5 months. The cohort consisted...
Abstract Background A large tumor volume negatively impacts the outcome of radiation therapy (RT). Altered fractionation (AF) can improve local control (LC) compared with conventional fractionation (CF). The aim of the present study was to investigate if response to AF differs with tumor volume in oropharyngeal cancer. Methods Three hundred and twenty four patients with oropharyngeal cancer treated in a randomized, phase III trial comparing CF (2 Gy/d, 5 d/wk, 7 weeks, total dose...
Abstract Background In microvascular reconstruction of ablative oncologic defects, coupler devices have traditionally been used for venous anastomosis, whereas the arterial anastomosis is hand‐sewn. In the setting of repeated intraoperative arterial anastomotic thrombosis, a coupler device may be of use in reducing the risk of rethrombosis. Methods Two patients were seen with advanced stage head and neck cancer and underwent oncologic resection. During microvascular reconstruction,...
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