Αρχειοθήκη ιστολογίου

Αλέξανδρος Γ. Σφακιανάκης
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5
Άγιος Νικόλαος Κρήτη 72100
2841026182
6032607174

Τετάρτη 14 Οκτωβρίου 2020

 


Ancient DNA from Guam and the Peopling of the Pacific [NEW RESULTS]
Humans reached the Mariana Islands in the western Pacific by ~3500 years ago, contemporaneous with or even earlier than the initial peopling of Polynesia. They crossed more than 2000 km of open ocean to get there, whereas voyages of similar length did not occur anywhere else until more than 2000 years later. Yet, the settlement of Polynesia has received far more attention than the settlement of the Marianas. There is uncertainty over both the origin of the first colonizers of the Marianas (with different...
bioRxiv Subject Collection: Evolutionary Biology
Wed Oct 14, 2020 03:00
Potential Use and Challenges of Constructed Wetlands for Wastewater Treatment and Conservation in Game Lodges and Resorts in Kenya
Constructed wetlands are cost-effective wastewater treatment alternatives that receive worldwide acceptance. For the Kenyan hospitality industry, in particular, constructed wetlands (CWs) provide opportunities for wastewater reuse and recovery of resources, as well as improvements in local environmental conditions. Hospitality establishments produce large volumes of wastewater that is sometimes discharged to the environment without being treated. This is not only harmful to communities living downstream...
The Scientific World Journal
Wed Oct 14, 2020 20:20
How leaves reflect light reveals evolutionary history of seed plants
The way leaves reflect light, known as plant reflectance spectra, can illuminate the evolutionary history of seed plants, according to researchers. The researchers found that by measuring the light spectrum reflected by leaves, they can identify the plant and its chemistry, evolution and place in the tree of life.
Evolutionary Biology News -- ScienceDaily
00:13
Early Treatment Effects of Nonablative Fractional Lasers (NAFL) on Hypertrophic Scars in an Animal Model
Background and Objectives Recently, there have been several attempts to apply the laser therapy to hypertrophic scars (HTS). In particular, the fractional laser is in the spotlight for its usefulness in rapid wound healing and dermal remodeling. However, most previous studies have focused on the ablative fractional laser (AFL), and there are no studies on the mechanism of the nonablative fractional laser (NAFL) effect in HTS treatment. In this study, we aimed to evaluate the changes in histology...
Lasers in Surgery and Medicine
Wed Oct 14, 2020 21:00
Diagnosis Please Certificates of Recognition Awarded to Five Individuals and to International and North American Radiology Resident Groups.
Diagnosis Please Certificates of Recognition Awarded to Five Individuals and to International and North American Radiology Resident Groups. Radiology. 2020 Oct 13;:203721 Authors: Nishino M, Bluemke DA PMID: 33048634 [PubMed - as supplied by publisher]
Radiology
03:34
d-Dimer and COVID-19.
d-Dimer and COVID-19. Radiology. 2020 Oct 13;:203481 Authors: Oudkerk M PMID: 33048037 [PubMed - as supplied by publisher]
Radiology
03:34
68Ga FAPI PET/CT Imaging in Peritoneal Carcinomatosis.
68Ga FAPI PET/CT Imaging in Peritoneal Carcinomatosis. Radiology. 2020 Oct 13;:202469 Authors: Guo W, Chen H PMID: 33048036 [PubMed - as supplied by publisher]
Radiology
03:34
Nerve Fascicle Depiction at MR Microscopy and High-Frequency US with Anatomic Verification.
Nerve Fascicle Depiction at MR Microscopy and High-Frequency US with Anatomic Verification. Radiology. 2020 Oct 13;:201910 Authors: Snoj Ž, Serša I, Matičič U, Cvetko E, Omejec G PMID: 33048035 [PubMed - as supplied by publisher]
Radiology
03:34
Arterial Spin Labeling MRI in Carotid Stenosis: Arterial Transit Artifacts May Predict Symptoms.
Arterial Spin Labeling MRI in Carotid Stenosis: Arterial Transit Artifacts May Predict Symptoms. Radiology. 2020 Oct 13;:200225 Authors: Di Napoli A, Cheng SF, Gregson J, Atkinson D, Markus JE, Richards T, Brown MM, Sokolska M, Jäger HR Abstract BackgroundStenosis of the internal carotid artery has a higher risk for stroke. Many investigations have focused on structure and plaque composition as signs of plaque vulnerability, but few studies...
Radiology
03:34
MRI of Skeletal Muscles in Participants with Type 2 Diabetes with or without Diabetic Polyneuropathy.
MRI of Skeletal Muscles in Participants with Type 2 Diabetes with or without Diabetic Polyneuropathy. Radiology. 2020 Oct 13;:192647 Authors: Stouge A, Khan KS, Kristensen AG, Tankisi H, Schlaffke L, Froeling M, Væggemose M, Andersen H Abstract BackgroundDiabetic polyneuropathy (DPN) is associated with loss of muscle strength. MRI including diffusion-tensor imaging (DTI) may enable detection of muscle abnormalities related to type 2 diabetes...
Radiology
03:34
Multicenter Evaluation of Breast Cancer Screening with Digital Breast Tomosynthesis in Combination with Synthetic versus Digital Mammography.
Multicenter Evaluation of Breast Cancer Screening with Digital Breast Tomosynthesis in Combination with Synthetic versus Digital Mammography. Radiology. 2020 Oct 13;:200240 Authors: Zuckerman SP, Sprague BL, Weaver DL, Herschorn SD, Conant EF Abstract BackgroundDigital breast tomosynthesis (DBT) combined with digital mammography (DM) is increasingly used in the United States instead of DM alone for breast cancer screening. Early screening...
Radiology
03:34
Feasibility of removable balloon implant for simultaneous magnetic nanoparticle heating and HDR brachytherapy of brain tumor resection cavities.
Feasibility of removable balloon implant for simultaneous magnetic nanoparticle heating and HDR brachytherapy of brain tumor resection cavities. Int J Hyperthermia. 2020;37(1):1189-1201 Authors: Stauffer PR, Rodrigues DB, Goldstein R, Nguyen T, Yu Y, Wan S, Woodward R, Gibbs M, Vasilchenko IL, Osintsev AM, Bar-Ad V, Leeper DB, Shi W, Judy KD, Hurwitz MD Abstract AIM: Hyperthermia (HT) has been shown to improve clinical response to radiation...
Technologies in Treatment of Head & Neck
02:55
MRIgRT head and neck anthropomorphic QA phantom: Design, development, reproducibility, and feasibility study.
Related Articles MRIgRT head and neck anthropomorphic QA phantom: Design, development, reproducibility, and feasibility study. Med Phys. 2020 Feb;47(2):604-613 Authors: Steinmann A, Alvarez P, Lee H, Court L, Stafford R, Sawakuchi G, Wen Z, Fuller CD, Followill D Abstract PURPOSE: The purpose of this paper was to design, manufacture, and evaluate a tissue equivalent, dual magnetic resonance/computed tomography (MR/CT) visible anthropomorphic...
Technologies in Treatment of Head & Neck
02:55
Speech Recognition in Noise in Single-Sided Deaf Cochlear Implant Recipients Using Digital Remote Wireless Microphone Technology.
Related Articles Speech Recognition in Noise in Single-Sided Deaf Cochlear Implant Recipients Using Digital Remote Wireless Microphone Technology. J Am Acad Audiol. 2019 Jul/Aug;30(7):607-618 Authors: Wesarg T, Arndt S, Wiebe K, Schmid F, Huber A, Mülder HE, Laszig R, Aschendorff A, Speck I Abstract BACKGROUND: Previous research in cochlear implant (CI) recipients with bilateral severe-to-profound sensorineural hearing loss showed improvements...
Technologies in Treatment of Head & Neck
02:55
Pilocarpine for Radiotherapy-Induced Dry Mouth and Dry Eyes: A Review of Clinical Effectiveness, Cost-Effectiveness, and Guidelines
Pilocarpine for Radiotherapy-Induced Dry Mouth and Dry Eyes: A Review of Clinical Effectiveness, Cost-Effectiveness, and Guidelines Book. 2020 01 08Authors: Marchand DK, McCormack S Abstract The jaw, larynx, nasopharynx, mouth, ears, and salivary glands are some of the most common areas affected when referring to head and neck cancers.1 The yearly incidence of head and neck cancer in Canada is over 4,300.2 A common side-effect of radiation therapy for head and...
Technologies in Treatment of Head & Neck
02:55
Guided Endodontic Access in a Maxillary Molar Using a Dynamic 3D Navigation System: A Case Report.
Guided Endodontic Access in a Maxillary Molar Using a Dynamic 3D Navigation System: A Case Report. J Endod. 2020 Oct 09;: Authors: Dianat O, Gupta S, Price JB, Mostoufi B Abstract Treatment of calcified root canals is challenging in endodontic practice. A 63 year-old male was referred to the postgraduate endodontic clinic at the University of Maryland School of Dentistry (UMSOD) for treatment of tooth #3. Due to the patient's history of head...
Technologies in Treatment of Head & Neck
Tue Oct 13, 2020 23:00
Transoral endoscopic thyroidectomy vestibular approach vs conventional open thyroidectomy: Meta-analysis.
Transoral endoscopic thyroidectomy vestibular approach vs conventional open thyroidectomy: Meta-analysis. Head Neck. 2020 Oct 12;: Authors: Wang Y, Zhou S, Liu X, Rui S, Li Z, Zhu J, Wei T Abstract BACKGROUND: To conduct a meta-analysis to compare the safety and efficacy of transoral endoscopic thyroidectomy vestibular approach (TOETVA) with conventional open thyroidectomy (COT). METHODS: MEDLINE, EMBASE, Science Citation Index Expanded,...
Technologies in Treatment of Head & Neck
Tue Oct 13, 2020 23:00
Soft Material-Enabled, Active Wireless, Thin-Film Bioelectronics for Quantitative Diagnostics of Cervical Dystonia.
Soft Material-Enabled, Active Wireless, Thin-Film Bioelectronics for Quantitative Diagnostics of Cervical Dystonia. Adv Mater Technol. 2019 Oct;4(10): Authors: Kwon YT, Lee Y, Berkmen GK, Lim HR, Scorr L, Jinnah HA, Yeo WH Abstract Recent advances in flexible materials, nanomanufacturing, and system integration have provided a great opportunity to develop wearable flexible hybrid electronics for human healthcare, diagnostics, and therapeutics....
Technologies in Treatment of Head & Neck
Tue Oct 13, 2020 23:00
Missing data techniques in classification for cardiovascular dysautonomias diagnosis
Abstract Missing data (MD) is a common and inevitable problem facing data mining (DM)–based decision systems in e-health since many medical historical datasets contain a huge number of missing values. Therefore, a pre-processing stage is usually required to deal with missing values before building any DM–based decision system. The purpose of this paper is to evaluate the impact of MD techniques on classification systems in cardiovascular dysautonomias diagnosis. We analyzed and...
Latest Results for Medical
02:55
Effect of viscoelastic properties on passive torque variations at different velocities of the knee joint extension and flexion movements
Abstract This study aimed to investigate the rate of passive torque variations of human knee joint in the different velocities of knee flexion and extension movements. Ten healthy men were invited to participate in the tests. All passive torque tests were performed for the knee joint extension and flexion on the sagittal plane in three different angular velocities of 15, 45, and 120°/s; in 5 consecutive cycles; and within 0° to 100° range of motion. The electrical activity of...
Latest Results for Medical
02:55
Analysis and decision based on specialist self-assessment for prognosis factors of acute leukemia integrating data-driven Bayesian network and fuzzy cognitive map
Abstract The purpose of the present study is to analyze the prognostic factors of acute leukemia and to construct a decision model based on a causal relationship between the factors of this disease to assist medical specialists. In medical decisions, to reach effective, quick, and reliable results, there is a need for a simple decision-making model based on a specialist’s self-assessment. It may help the medical team before final diagnosis by costly and time-consuming procedures...
Latest Results for Medical
02:55
Novel approach for electromyography-controlled prostheses based on facial action
Abstract Individuals with severe tetraplegia frequently require to control their complex assistive devices using body movement with the remaining activity above the neck. Electromyography (EMG) signals from the contractions of facial muscles enable people to produce multiple command signals by conveying information about attempted movements. In this study, a novel EMG-controlled system based on facial actions was developed. The mechanism of different facial actions was processed...
Latest Results for Medical
02:55
Noise suppression–guided image filtering for low-SNR CT reconstruction
Abstract In practical computed tomography (CT) applications, projections with low signal-to-noise ratio (SNR) are often encountered due to the reduction of radiation dose or device limitations. In these situations, classical reconstruction algorithms, like simultaneous algebraic reconstruction technique (SART), cannot reconstruct high-quality CT images. Block-matching and 3D filtering (BM3D)-based iterative reconstruction algorithm (POCS-BM3D) has remarkable effect in dealing...
Latest Results for Medical
02:55
DZC DIAG: mobile application based on expert system to aid in the diagnosis of dengue, Zika, and chikungunya
Abstract Dengue, Zika, and chikungunya are epidemic diseases transmitted by the Aedes mosquito. These virus infections can be so severe to the point of bringing on mobility and neurological problems, or even death. Expert systems (ES) can be used as tools for the identification of patterns intended to solve problems in the same way as a professional specialist would. This work aimed to develop an ES in the form of an Android application to serve as a supportive tool in the diagnosis...
Latest Results for Medical
02:55
Classification of error-related potentials from single-trial EEG in association with executed and imagined movements: a feature and classifier investigation
Abstract Error-related potentials (ErrPs) have been proposed for designing adaptive brain–computer interfaces (BCIs). Therefore, ErrPs must be decoded. The aim of this study was to evaluate ErrP decoding using combinations of different feature types and classifiers in BCI paradigms involving motor execution (ME) and imagination (MI). Fifteen healthy subjects performed 510 (ME) and 390 (MI) trials of right/left wrist extensions and foot dorsiflexions. Sham BCI feedback was delivered...
Latest Results for Medical
02:55
Development of new descriptor for melanoma detection on dermoscopic images
Abstract Early detection of melanoma has critical importance for the success of the treatment. However, a successful early diagnosis is only possible with the existence of discriminative features. In this study, a new descriptor based on the number of colors was developed in order to successfully diagnose lesions of melanoma. The number of colors is the main feature in the identification of melanoma-type skin lesions. The user must select a threshold value when calculating the...
Latest Results for Medical
02:55
Cascade marker removal algorithm for thyroid ultrasound images
Abstract During thyroid ultrasound diagnosis, radiologists add markers such as pluses or crosses near a nodule’s edge to indicate the location of a nodule. For computer-aided detection, deep learning models achieve classification, segmentation, and detection by learning the thyroid’s texture in ultrasound images. Experiments show that manual markers are strong prior knowledge for data-driven deep learning models, which interferes with the judgment mechanism of computer-aided...
Latest Results for Medical
02:55
Automated measurement network for accurate segmentation and parameter modification in fetal head ultrasound images
Abstract Measurement of anatomical structures from ultrasound images requires the expertise of experienced clinicians. Moreover, there are artificial factors that make an automatic measurement complicated. In this paper, we aim to present a novel end-to-end deep learning network to automatically measure the fetal head circumference (HC), biparietal diameter (BPD), and occipitofrontal diameter (OFD) length from 2D ultrasound images. Fully convolutional neural networks (FCNNs)...
Latest Results for Medical
02:55
Breastfeeding improves dynamic reorganization of functional connectivity in preterm infants: a temporal brain network study
Abstract Substantial evidences have shown the benefits of breastfeeding to infants in terms of better nutrition and neurodevelopmental outcome. However, the relationship between brain development and feeding in preterm infants, who are physiologically and developmentally immature at birth, is only beginning to be quantitatively assessed, coinciding with the recent advent of neuroimaging techniques. In the current work, we studied a sample of 50 preterm infants—born between 29...
Latest Results for Medical
02:55
Identification of significant risks in pediatric acute lymphoblastic leukemia (ALL) through machine learning (ML) approach
Abstract Pediatric acute lymphoblastic leukemia (ALL) through machine learning (ML) technique was analyzed to determine the significance of clinical and phenotypic variables as well as environmental conditions that can identify the underlying causes of child ALL. Fifty pediatric patients (n = 50) included who were diagnosed with acute lymphoblastic leukemia (ALL) according to the inclusion and exclusion criteria. Clinical variables comprised of the blood biochemistry (CBC, LFTs,...
Latest Results for Medical
02:55
The influence of motor tasks and cut-off parameter selection on artifact subspace reconstruction in EEG recordings
Abstract Advances in EEG filtering algorithms enable analysis of EEG recorded during motor tasks. Although methods such as artifact subspace reconstruction (ASR) can remove transient artifacts automatically, there is virtually no knowledge about how the vigor of bodily movements affects ASRs performance and optimal cut-off parameter selection process. We compared the ratios of removed and reconstructed EEG recorded during a cognitive task, single-leg stance, and fast walking...
Latest Results for Medical
02:55
Image-based state-of-the-art techniques for the identification and classification of brain diseases: a review
Abstract Detection and classification methods have a vital and important role in identifying brain diseases. Timely detection and classification of brain diseases enable an accurate identification and effective management of brain impairment. Brain disorders are commonly most spreadable diseases and the diagnosing process is time-consuming and highly expensive. There is an utmost need to develop effective and advantageous methods for brain diseases detection and characterization....
Latest Results for Medical
02:55
A memory optimization method combined with adaptive time-step method for cardiac cell simulation based on multi-GPU
Abstract Cardiac electrophysiological simulation is a very complex computational process, which can be run on graphics processing unit (GPU) to save computational cost greatly. The use of adaptive time-step can further effectively speed up the simulation of heart cells. However, if the adaptive time-step method applies to GPU, it suffers synchronization problem on GPU, weakening the acceleration of adaptive time-step method. The previous work ran on a single GPU with the adaptive...
Latest Results for Medical
02:55
Purification of a heterodimeric Reelin construct to investigate binding stoichiometry
Abstract Reelin is a secreted glycoprotein that is integral in neocortex development and synaptic function. Reelin exists as a homodimer with two chains linked by a disulfide bond at cysteine 2101, a feature that is vital to the protein’s function. This is highlighted by the fact that only dimeric Reelin can elicit efficient, canonical signaling, even though a mutated (C2101A) monomeric construct of Reelin retains the capacity to bind to its receptors. Receptor clustering has been...
Latest Results for European Biophysics Journal
Wed Oct 14, 2020 03:00
On the utility of fluorescence-detection analytical ultracentrifugation in probing biomolecular interactions in complex solutions: a case study in milk
Abstract β-Lactoglobulin is the most abundant protein in the whey fraction of ruminant milks, yet is absent in human milk. It has been studied intensively due to its impact on the processing and allergenic properties of ruminant milk products. However, the physiological function of β-lactoglobulin remains unclear. Using the fluorescence-detection system within the analytical ultracentrifuge, we observed an interaction involving fluorescently labelled β-lactoglobulin in its native...
Latest Results for European Biophysics Journal
Wed Oct 14, 2020 03:00
The prognostic value of the lymph node ratio for local advanced gastric cancer patients with intensity-modulated radiation therapy and concurrent chemotherapy after radical gastrectomy in China
Nearly 50% of new gastric cancer cases and gastric cancer-related deaths worldwide occur in China. No global consensus has been reached about the optimal management of locally advanced gastric cancer. Although...
Radiation Oncology - Latest Articles
Wed Oct 14, 2020 03:00
Leaf open time sinogram (LOTS): a novel approach for patient specific quality assurance of total marrow irradiation
There is no ideal detector-phantom combination to perform patient specific quality assurance (PSQA) for Total Marrow (TMI) and Lymphoid (TMLI) Irradiation plan. In this study, 3D dose reconstruction using mega...
Radiation Oncology - Latest Articles
Wed Oct 14, 2020 03:00
Acute toxicity of normofractionated intensity modulated radiotherapy with simultaneous integrated boost compared to three-dimensional conformal radiotherapy with sequential boost in the adjuvant treatment of breast cancer
Intensity-modulated radiotherapy (IMRT) improves dose homogeneity and late toxicity compared to simple tangential techniques in adjuvant whole-breast radiotherapy for patients with breast cancer. Simultaneous-...
Radiation Oncology - Latest Articles
Tue Oct 13, 2020 03:00
Paget Schroetter Syndrome and Chylothorax After Rhinoplasty
Paget-Schroetter syndrome is a rare clinical condition characterized by subclavian vein thrombosis following repetitive upper extremity effort. In this case, we presented a 35-year-old female patient who underwent septorhinoplasty in our clinic. A swelling of the left part of the neck extending to the clavicle was detected 4 hours after the operation. Computed tomography of the thorax revealed a pleural effusion at the base of the left lung and a computed tomography angiogram demonstrated a recanalized...
Journal of Craniofacial Surgery - Published Ahead-of-Print
Mon Oct 12, 2020 03:00
Nationwide Perioperative Analysis of Endoscopic Versus Open Surgery for Craniosynostosis: Equal Access, Unequal Outcomes
The purpose of this study is to evaluate national differences in inpatient outcomes and predictors of treatment type for endoscopic versus open surgery for craniosynostosis, with particular consideration of racial, socioeconomic, and geographic factors. The 2016 Kids’ Inpatient Database was queried to identify patients aged 3 years or younger who underwent craniectomy for craniosynostosis. Multivariable regression modeled treatment type based on patient-level (gender, race, income, comorbidities,...
Journal of Craniofacial Surgery - Published Ahead-of-Print
Mon Oct 12, 2020 03:00
Adult Cranioplasty and Perioperative Patient Safety: Does Plastic Surgery Facility Volume Matter?
Cranioplasty lies at the intersection of neurosurgery and plastic surgery, though little is known about the impact of plastic surgery involvement. The authors hypothesized that adult cranioplasty patients at higher volume plastic surgery facilities would have improved inpatient outcomes. Adult cranioplasty encounters were extracted from the National Inpatient Sample from 2012 to 2014 based on International Classification of Diseases, Ninth Revision (ICD-9) codes. Regression models included the following...
Journal of Craniofacial Surgery - Published Ahead-of-Print
Mon Oct 12, 2020 03:00
Isolated Frontosphenoidal Craniosynostosis: The Alder Hey Experience and a Novel Algorithm to Aid Diagnosis
Unilateral synostotic frontal plagiocephaly is most commonly due to a premature fusion of the frontoparietal suture. However, the coronal ring comprises of major and minor sutures and these sutures in isolation or in combination can result in similar clinical presentations which can make diagnosis challenging and result in a delay in referral to a craniofacial surgeon for timely management. Isolated frontosphenoidal craniosynostosis is a rare clinical entity with only 49 cases reported in the English...
Journal of Craniofacial Surgery - Published Ahead-of-Print
Mon Oct 12, 2020 03:00
Analysis of Narcotic Use in Isolated Facial Fractures: Potential Targets for a Narcotic Reduction Protocol
Anecdotal evidence suggests that patients with isolated traumatic facial fractures have high narcotic usage, yet there is a lack of literature delineating this relationship. This study aimed to characterize total amount and factors predictive of narcotic usage following isolated traumatic facial fracture. Study participants (n = 35) were predominantly male (91.4%), mean age 40.5, Caucasian (34.3%), suffered some form of assault (62.9%), and remained hospitalized for an average of 3.0 days. Average...
Journal of Craniofacial Surgery - Published Ahead-of-Print
Mon Oct 12, 2020 03:00
Considerations for Clinical Use of Concentrated Growth Factor in Maxillofacial Regenerative Medicine
Different strategies have been utilized to facilitate mineralized/soft tissues. Concentrated growth factor (CGF) emerges as a promising biomaterial for regenerative therapy due to high levels of platelets, growth factors, and nucleated cells entrapped in the fibrin scaffold. This review aimed to collect extensive studies on CGF used in maxillofacial regenerative medicine, discussing current obstacles, and expressing some considerations of CGF use. Articles were retrieved systematically without time...
Journal of Craniofacial Surgery - Published Ahead-of-Print
Mon Oct 12, 2020 03:00
Influence of Radiographic Soft Tissue Findings on Clinical Entrapment in Patients With Orbital Fractures
Introduction: Radiographic assessment of facial fractures with computed tomography (CT) scanning has become standard of care. As imaging resolution has improved, findings such as herniation of extraocular muscles (EOM) have become a means of diagnosing conditions like orbital entrapment. However, the sensitivity and specificity of these findings has not been well-studied. We sought to evaluate the value of radiographic findings such as fat herniation, EOM contour irregularity, and EOM herniation...
Journal of Craniofacial Surgery - Published Ahead-of-Print
Mon Oct 12, 2020 03:00
Ablepharon Macrostomia Syndrome: Rib Cartilage and Fat Grafting for Lower Lid Reconstruction
Ablepharon macrostomia syndrome (AMS) is a rare condition with fewer than 20 cases being reported in the literature. Features of AMS include ablepharon, hypertelorism, macrostomia, dysplastic ears, sparse body hair, and ambiguous genitalia. The most significant phenotypic presentation is rudimentary eyelids resulting in exposure keratopathy, corneal abrasions, and potential blindness. Numerous methods including primary full thickness skin grafting, conjunctival sutures followed by full thickness...
Journal of Craniofacial Surgery - Published Ahead-of-Print
Mon Oct 12, 2020 03:00
Endoscopic Sphenopalatine Ganglion Block Efficacy in the Management of Periorbital Edema and Ecchymosis After Septorhinoplasty
Aim: This study aims to evaluate the efficacy of sphenopalatine ganglion block (SPGB) on postoperative edema and ecchymosis for the patients undergoing septorhinoplasty (SRP). Methods: In the study, a total number of 55 participant patients (40% male and 60% female, aged between 18 and 42 years) undergoing hump resection and osteotomies were allocated into 2 groups. The SPGB (+) group consisted of 27 patients who underwent SPGB, while the SPGB (–) group consisted of 28 patients who...
Journal of Craniofacial Surgery - Published Ahead-of-Print
Mon Oct 12, 2020 03:00
Ethmoid Sinus Mucosal and Lacrimal Sac Flap Anastomosing in Patients With Failed Dacryocystorhinostomy
Purpose: The aim of this work is to demonstrate the outcomes of endonasal dacryocystorhinostomy (En-DCR) with anterior ethmoid sinus mucosal and posterior lacrimal sac flap anastomosing in patients with previous failed DCR. Methods: The clinical data of patients who suffered from recurrent epiphora after failed DCR between September 2014 and March 2018 were reviewed retrospectively. Among them, those who received the second En-DCR procedure were enrolled in this study. During the surgery,...
Journal of Craniofacial Surgery - Published Ahead-of-Print
Mon Oct 12, 2020 03:00
The Sensitivity and Specificity of Parental Report of Concern for Identifying Language Disorder in Children With Craniosynostosis
Many factors that may co-occur with craniosynostosis, such as oral structural anomalies, hearing impairment, visual impairment, cognitive difficulties and psychosocial factors, may predispose this population to communication difficulties. At the Oxford Craniofacial Unit, children's speech, language and communication are regularly monitored in accordance with a systematic developmental screening protocol developed by the Speech and Language Therapists in the 4 United Kingdom (UK) Highly Specialized...
Journal of Craniofacial Surgery - Published Ahead-of-Print
Mon Oct 12, 2020 03:00
Altered local and distant functional connectivity density in chronic migraine: a resting-state functional MRI study
Abstract Purpose Previous studies have indicated disrupted functional connectivity in multiple brain regions and resting-state networks in episodic migraine, but it is unclear how brain network property is disrupted in chronic migraine. Methods Using resting-state functional magnetic resonance imaging and voxel-wise functional connectivity density...
Neuroradiology
Wed Oct 14, 2020 03:00
Investigating the parameters that affect the radiation exposure and establishing typical values based on procedure complexity for cerebral angiography and brain aneurysm embolization
Abstract Purpose The purpose of this study is to investigate the parameters that affect the radiation exposure and to establish typical values (TV) based on procedure complexity for cerebral angiography (CA) and brain aneurysm embolization (BAE). Methods Clinical parameters and exposure data were retrospectively reviewed for 348 examinations performed...
Neuroradiology
Wed Oct 14, 2020 03:00
Intra-osseous basivertebral nerve radiofrequency ablation (BVA) for the treatment of vertebrogenic chronic low back pain
Abstract Study design Prospective experimental uncontrolled trial. Background Vertebrogenic pain is a frequently underestimated cause of chronic low back pain (LBP). Vertebral endplate degeneration, characterized by cortical bone damage and subchondral bone inflammatory reaction, is a significant source of LBP, the responsible of the pain transmission...
Neuroradiology
Tue Oct 13, 2020 03:00
European Society of Neuroradiology (ESNR)
Neuroradiology
Tue Oct 13, 2020 03:00
Fundal Fluid Cap Is Associated With Hearing Preservation in the Radiosurgical Treatment of Vestibular Schwannoma
Objective: To evaluate the relationship between fundal fluid and hearing outcomes after treatment of vestibular schwannoma (VS) with Gamma Knife radiosurgery (GKRS). Study Design: Retrospective case series. Setting: Tertiary neurotology referral center. Patients: Patients treated with GKRS for vestibular schwannoma between March 2007 and March 2017 were considered for this study. Exclusion criteria included pretreatment pure-tone average (PTA) >90 dB, neurofibromatosis type II,...
Otology & Neurotology Published Ahead-of-Print
Mon Oct 12, 2020 03:00
Creation and Initial Validation of the Caregiver Analysis of Reported Experiences with Swallowing Disorders (CARES) Screening Tool.
Creation and Initial Validation of the Caregiver Analysis of Reported Experiences with Swallowing Disorders (CARES) Screening Tool. Am J Speech Lang Pathol. 2020 Oct 13;:1-14 Authors: Shune SE, Resnick B, Zarit SH, Namasivayam-MacDonald AM Abstract Purpose Dysphagia is a debilitating condition with widespread consequences. Previous research has revealed dysphagia to be an independent predictor of caregiver burden. However, there is currently...
Dysphagia - Rehabilitation
02:04
Impact of Evidence-Based Stroke Care on Patient Outcomes: A Multilevel Analysis of an International Study.
Related Articles Impact of Evidence-Based Stroke Care on Patient Outcomes: A Multilevel Analysis of an International Study. J Am Heart Assoc. 2019 07 02;8(13):e012640 Authors: Muñoz Venturelli P, Li X, Middleton S, Watkins C, Lavados PM, Olavarría VV, Brunser A, Pontes-Neto O, Santos TEG, Arima H, Billot L, Hackett ML, Song L, Robinson T, Anderson CS, HEADPOST (Head Positioning in Acute Stroke Trial) Investigators Abstract Background The uptake...
Dysphagia - Rehabilitation
02:04
[Progress in evaluation of swallowing function after treatment of head and neck malignant tumors].
[Progress in evaluation of swallowing function after treatment of head and neck malignant tumors]. Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2020 Sep;34(9):861-864 Authors: Ren J, Lv D, Liu S Abstract After treatment, patients with head and neckmalignant tumors may suffer from dysphagia, which may lead to aspiration pneumonia, cough and other complications, even threaten life, seriously affecting patients'quality of life. Through comprehensive...
Dysphagia - Rehabilitation
Tue Oct 13, 2020 22:02
Coexpression Module Construction by Weighted Gene Coexpression Network Analysis and Identify Potential Prognostic Markers of Breast Cancer
Cancer Biotherapy and Radiopharmaceuticals, Ahead of Print.
Cancer Biotherapy & Radiopharmaceuticals - Table of Contents
Wed Oct 14, 2020 10:00
Efficacy and Safety of Drug-Eluting Beads Bronchial Arterial Chemoembolization in Treating Patients with Lung Cancer Who Were Complicated with Hemoptysis
Cancer Biotherapy and Radiopharmaceuticals, Ahead of Print.
Cancer Biotherapy & Radiopharmaceuticals - Table of Contents
Wed Oct 14, 2020 10:00
Upregulation of miR-519d-3p Inhibits Viability, Proliferation, and G1/S Cell Cycle Transition of Oral Squamous Cell Carcinoma Cells Through Targeting CCND1
Cancer Biotherapy and Radiopharmaceuticals, Ahead of Print.
Cancer Biotherapy & Radiopharmaceuticals - Table of Contents
Wed Oct 14, 2020 10:00
The Role of N6-Methyladenosine Methylation in the Progression of Endometrial Cancer
Cancer Biotherapy and Radiopharmaceuticals, Ahead of Print.
Cancer Biotherapy & Radiopharmaceuticals - Table of Contents
Wed Oct 14, 2020 10:00
Vocal Indicators of Size, Shape and Body Composition in Polish Men
From a human evolution perspective, identifying a link between physique and vocal quality could demonstrate dual signaling in terms of the health and biological condition of an individual. In this regard, this study investigates the relationship between men's body size, shape, and composition, and their vocal characteristics.
Journal of Voice
Wed Oct 14, 2020 03:00
Strain Elastosonography Measurement in Patients with Primary Muscle Tension Dysphonia Compared with Healthy Speakers: A Pilot Study
The purpose of this study was to investigate real-time elastosonography (RTE) to measure strain of the (para)laryngeal muscles in patients with primary muscle tension dysphonia (MTD) and healthy speakers.
Journal of Voice
Wed Oct 14, 2020 03:00
Coprevalence of Presbycusis and Its Effect on Outcome of Voice Therapy in Patients With Presbyphonia
To identify the coprevalence of presbycusis and presbycusis and analyze the effect of presbycusis on compliance and result of voice therapy in presbycusis patients.
Journal of Voice
Wed Oct 14, 2020 03:00
Development and Preliminary Validation of a Pain Scale Specific to Patients With Voice Disorders: The Voice-Related Pain Scale (VRPS)
Although pain is one of the complaints reported by voice patients, still there is no valid and reliable scale to evaluate pain in Patients with Voice Disorders (PWVDs). Therefore, the aim of the present study was to develop and validate the Voice-Related Pain Scale (VRPS).
Journal of Voice
Tue Oct 13, 2020 03:00
Comparison Between Combination of Resonant Voice Therapy and Vocal Hygiene Education and Vocal Hygiene Education Only for Female Elementary School Teachers
The study compares the rehabilitation outcome of two voice intervention methods for female elementary school teachers with self-reported voice disorders.
Journal of Voice
Tue Oct 13, 2020 03:00
In-Person or Virtual? – Assessing the Impact of COVID-19 on the Teaching Habits of Voice Pedagogues
The social distancing measures implemented world-wide in the wake of the novel Coronavirus (COVID-19) crisis have forced voice pedagogues to alter their teaching habits, likely shifting from customary in-person teaching to virtual teaching. An online survey, distributed world-wide in April/May 2020, investigated how singing voice pedagogues were impacted by the COVID-19 crisis. The collected responses from 387 survey participants suggest that, overall, voice teachers were only moderately satisfied...
Journal of Voice
Tue Oct 13, 2020 03:00
Fundal Fluid Cap Is Associated With Hearing Preservation in the Radiosurgical Treatment of Vestibular Schwannoma
Objective: To evaluate the relationship between fundal fluid and hearing outcomes after treatment of vestibular schwannoma (VS) with Gamma Knife radiosurgery (GKRS). Study Design: Retrospective case series. Setting: Tertiary neurotology referral center. Patients: Patients treated with GKRS for vestibular schwannoma between March 2007 and March 2017 were considered for this study. Exclusion criteria included pretreatment pure-tone average (PTA) >90 dB, neurofibromatosis...
Otology & Neurotology - Published Ahead-of-Print
Mon Oct 12, 2020 03:00
Maintaining medical team communication using video conferencing during the COVID-19 lockdown
COVID-19 is a global pandemic of unprecedented proportions. It has resulted in changes to all aspects of our lives. The impact on medicine has been significant. Clear and effective communication during these times is vital. We present an evaluation of the use of video conferencing (VC) and offer a simple format to structure meetings for their effectiveness and promotion of team communication and wellbeing.
Oral and Maxillofacial Surgery
Wed Oct 14, 2020 03:00
Racial Disparity in Orbital Morphology and Spatial Relationships in Unoperated Crouzon Patients
Altered orbital morphology of patients with Crouzon syndrome, could impact treatment planning for diverse populations, in spite of confounding influences of different cranial suture synostosis. This study attempts to explore the differences between Asian and Caucasian orbital characteristics of Crouzon syndrome in association with pansynostosis.
Oral and Maxillofacial Surgery
Wed Oct 14, 2020 03:00
Regarding ‘Aerosol prevention in osteosynthesis for maxillofacial trauma – a technical note’
We read with great interest the technical note entitled ‘Aerosol prevention in osteosynthesis for maxillofacial trauma’ and published in British Journal of Oral and Maxillofacial Surgery1.
Oral and Maxillofacial Surgery
Wed Oct 14, 2020 03:00
Patient Information - Is It Ever Enough? A prospective Audit of Information Provision for Orthognathic Treatment at The Queen Victoria Hospital (QVH), East Grinstead
Appropriate patient information is essential to improving patient experience.This prospective audit looked at compliance with QVH Orthognathic information patient protocol and patient opinion regarding information provision.77 patients participated, with 75 reporting that they received sufficient information to make an informed decision.Prior to attending the MDT, 69 patients had read the information leaflet, although only 37 patients had accessed the British Orthodontic Society (BOS) online resource.
Oral and Maxillofacial Surgery
Wed Oct 14, 2020 03:00
Virtual ARCP assessment and trainee feedback meetings: facilitating the best experience and practice
As a result of COVID-19, there has been an exponential increase in the use of remote technology for many local, regional and national meetings that would previously have been held on a face-to-face basis. Remote meetings have ensured that essential clinical, educational and strategic work can continue but it is not ‘business as usual’, although colleagues accept this form of communication as the new norm.In medical education and assessment, the Annual Review of Competence Progression (ARCP) meetings...
Oral and Maxillofacial Surgery
Wed Oct 14, 2020 03:00
Antibiotic prophylaxis for sagittal split ramus osteotomy using resorbable plate and screw fixation: a randomized trial on extend dual-agent versus inpatient single-agent
Resorbable materials are used for sagittal split ramus osteotomy (SSRO) bone fragment fixation. However, there is no clear regimen for antibiotic prophylaxis in SSRO with absorbable materials. The purpose of this study was to compare inpatient single-agent and extend dual-agent antibiotic prophylaxis for the prevention of surgical site infection (SSI) in patients after sagittal split ramus osteotomy. This prospective study included a total of 100 patients who were diagnosed with jaw deformity and...
Oral and Maxillofacial Surgery
Wed Oct 14, 2020 03:00
Cognitive Improvement After Cochlear Implantation in Older Adults With Severe or Profound Hearing Impairment: A Prospective, Longitudinal, Controlled, Multicenter Study
Objective: To compare the cognitive evolution of older adults with severe or profound hearing impairment after cochlear implantation with that of a matched group of older adults with severe hearing impairment who do not receive a cochlear implant (CI). Design: In this prospective, longitudinal, controlled, and multicenter study, 24 older CI users were included in the intervention group and 24 adults without a CI in the control group. The control group matched the intervention group in terms...
Ear and Hearing - Published Ahead-of-Print
Fri Oct 09, 2020 03:00
A 21-year analysis of the publication patterns and level of scientific evidence in three major oral and maxillofacial surgery journals
High-quality research in surgical sciences is constrained by a number of barriers including funding, blinding, adjusting for surgical experience, and inability to recruit sufficient numbers. As a result, surgeons have been reported to accept lower levels of scientific evidence to validate procedures. Our study analysed the quantity and quality of publications in three journals in Oral and Maxillofacial Surgery over a 21-year period. A retrospective analysis of all issues published between 1998 and...
Oral & Maxillofacial Surgery
Wed Oct 14, 2020 03:00
The Sydney Modified Alberta Reconstruction Technique (SM-ART) for dental rehabilitation following mandibulectomy or maxillectomy
The Sydney Modification of the Alberta Mandibular Reconstruction technique (SM-ART) is a hybrid of the Rohner method and the Alberta Reconstructive Technique (ART). SM-ART differs from ART in three ways, notably the use of custom plates, intraoral placement of implants via three-dimensionally printed guides and a skin graft buried deep into the skin paddle of the fibula flap in the first stage of the reconstruction.
Oral & Maxillofacial Surgery
Wed Oct 14, 2020 03:00
Three-dimensional assessment of root migration and rotation patterns after coronectomy: bone-embedded roots versus soft tissue-covered roots
In this study, a three-dimensional evaluation was performed to explore differences between bone-embedded and soft tissue-covered roots after mandibular third molar (M3M) coronectomy. Patients were recruited according to the results of cone-beam computed tomography, 6 months after coronectomy. Completely bone-embedded M3Ms were assigned to group B, while completely soft tissue-covered M3Ms were assigned to group S. Data were recorded using digital software. A total of 213 M3Ms in 181 patients were...
Oral & Maxillofacial Surgery
Wed Oct 14, 2020 03:00
Three-dimensional stereophotogrammetry measurement of facial asymmetry in patients with congenital muscular torticollis: a non-invasive method
The aim of this study was to evaluate three-dimensional (3D) stereophotogrammetry based methods for measuring craniofacial asymmetry in patients with congenital muscular torticollis (CMT). This study focused on the differences in craniofacial asymmetry in CMT patients compared with a healthy control group using 3D photographs. The difference in facial asymmetry between the CMT group and control group was measured using two methods to analyse facial asymmetry in distinct anatomical regions: (1) mirroring...
Oral & Maxillofacial Surgery
Wed Oct 14, 2020 03:00
The role of brachytherapy for margin control in oral tongue squamous cell carcinoma
The aim of this study is to assess the feasibility and effectiveness of using peri-operative brachytherapy (BRTx) for positive/narrow margins present post primary surgical resection of oral tongue squamous cel...
Journal of Otolaryngology - Head & Neck Surgery
Wed Oct 14, 2020 03:00
Associations between hypoxia parameters in obstructive sleep apnea and cognition, cortical thickness, and white matter integrity in middle-aged and older adults
Abstract Objective This study aimed to investigate the association between each parameter of intermittent hypoxia in obstructive sleep apnea (OSA) and the cognitive profile, cortical thickness, and white matter integrity in middle-aged and older adults. Methodology Participants were newly diagnosed with moderate or severe OSA from the King Chulalongkorn...
Latest Results for Sleep and Breathing
Wed Oct 14, 2020 03:00
Effects of depth electrode montage and single-pulse electrical stimulation sites on neuronal responses and effective connectivity
Publication date: Available online 14 October 2020Source: Clinical NeurophysiologyAuthor(s): Takumi Mitsuhashi, Masaki Sonoda, Hirotaka Iwaki, Aimee F. Luat, Sandeep Sood, Eishi Asano
Clinical Neurophysiology
Wed Oct 14, 2020 22:49
Basal Temporo-occipital Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia: A Multimodal Investigation Turning Non-Lesional to Lesional Epilepsy
Publication date: Available online 13 October 2020Source: Clinical NeurophysiologyAuthor(s): Yicong Lin, Xiaowei Xu, Thandar Aung, Hiroatsu Murakami, Ingmar Blümcke, William Bingaman, Imad Najm, Zhong Irene Wang
Clinical Neurophysiology
Wed Oct 14, 2020 22:49
Lateralized EEG mu power during action observation and motor imagery in typically developing children and children with unilateral Cerebral Palsy
Publication date: Available online 13 October 2020Source: Clinical NeurophysiologyAuthor(s): Marijtje L.A. Jongsma, Bert Steenbergen, C. Marjolein Baas, Pauline B. Aarts, Clementina M. van Rijn
Clinical Neurophysiology
Wed Oct 14, 2020 22:49
Is somatosensory temporal discrimination threshold a biomarker of disease progression in multiple sclerosis?
Publication date: Available online 13 October 2020Source: Clinical NeurophysiologyAuthor(s): Viola Baione, Daniele Belvisi, Sebastiano Giuseppe Crisafulli, Matteo Tartaglia, Giorgio Leodori, Gina Ferrazzano, Antonella Conte
Clinical Neurophysiology
Wed Oct 14, 2020 22:49
Infection in Elderly Burn Patients: What Do We Know?
Surgical Infections, Ahead of Print.
Surgical Infections
Wed Oct 14, 2020 10:00
Second Primary Tumors in head and neck cancer patients: the importance of a “tailored” surveillance
ABSTRACT Objective Head and neck cancer survivors have increased risk of developing second primary tumors compared to overall population. Because second primary represent a major cause of morbidity and mortality in this population, early detection is fundamental. Materials and methods In this 10‐years single‐institution study we investigated: incidence, clinical‐pathological risk factors and survival of patients with second primary tumor. We included all patients with diagnosis of squamous...
Oral Diseases
Wed Oct 14, 2020 22:22
Oral adverse effects: drug‐induced tongue disorders
Abstract Objectives Due to a worldwide increase of drug consumption, oral healthcare professionals are frequently confronted with patients using one or more drugs. A large number of drugs can be accompanied with adverse drug reactions in the orofacial region, amongst others of the tongue. This paper aims to give an overview of drugs that are known to be accompanied with tongue disorders. Materials and methods The national drug information database for Dutch pharmacists, composed of scientific...
Oral Diseases
Wed Oct 14, 2020 17:25
Brazilian Oral Medicine and public health system: the enormous impact of the COVID‐19 Era
Oral Diseases
Tue Oct 13, 2020 17:55
High preoperative levels of circulating SFRP5 predict better prognosis in colorectal cancer patients.
High preoperative levels of circulating SFRP5 predict better prognosis in colorectal cancer patients. Future Oncol. 2020 Oct 13;: Authors: Kirana C, Smith E, Ngo DT, Trochsler MI, Hewett PJ, Stubbs RS, Hardingham JE, Maddern GJ, Hauben E Abstract The purpose of this research was to investigate the diagnostic and prognostic value of circulating SFRP5 (cSFRP5) in colorectal cancer (CRC). We evaluated preoperative cSFRP5 levels in CRC patients...
Future Oncology.
Wed Oct 14, 2020 22:18
Targeting FGFR2 in advanced cholangiocarcinoma: an interview with Arndt Vogel.
Targeting FGFR2 in advanced cholangiocarcinoma: an interview with Arndt Vogel. Future Oncol. 2020 Oct 13;: Authors: Vogel A Abstract Professor Arndt Vogel, a senior consultant and professor of gastrointestinal oncology in the Department of Gastroenterology, Hepatology and Endocrinology at Hannover Medical School, Germany, speaks with Rachel Jenkins (Senior Editor of Oncology Central) about cholangiocarcinoma, the challenges of the field and...
Future Oncology.
Wed Oct 14, 2020 22:18
Earlier detection of hypochondroplasia: A large single‐center UK case series and systematic review
Abstract Hypochondroplasia (HCH) is a rare autosomal dominant skeletal dysplasia condition caused by FGFR3 mutations leading to disproportionate short stature. Classically HCH presents in toddlers or school‐age children, as limb‐to‐trunk disproportion and is often mild and easily overlooked during infancy. We report experiences from a single‐center UK HCH‐cohort of 31 patients, the rate of antenatal HCH detection in our cohort (13/31, 41.9%) and describe relevant case‐data for this subset of 13...
American Journal of Medical Genetics Part A
Wed Oct 14, 2020 21:47
Chronic subdural hematoma: A previously unreported life‐threatening complication in adult with Sotos syndrome
Abstract Macrocephaly, defined as head circumference ≥ 2 SDs, is a cardinal feature of Sotos syndrome (SS) and generally persists in adulthood. Subdural fluid collection, typically associated with macrocephaly, is described in children due to anatomical conformation, and in adulthood due to brain atrophy and ex‐vacuo hydrocephalus. On the other hand, a true, symptomatic, chronic subdural hematoma (CSH) is a previously unreported complication of SS in adulthood. Here we describe the first SS patient...
American Journal of Medical Genetics Part A
Wed Oct 14, 2020 21:47
Carrier frequency of SMN1‐related spinal muscular atrophy in north Indian population: The need for population based screening program
Abstract Chromosome 5q related Spinal muscular atrophy (SMA) is an autosomal recessive, progressive, neuromuscular disorder most commonly caused by homozygous deletion of exon 7 or exon 7 and 8 of SMN1 gene. Being the leading genetic cause of infant mortality, studies of its prevalence and incidence are necessary. Carrier testing for the common pathogenic variant for SMA is offered to the couples visiting our tertiary care hospital in North India. Subjects were tested for SMA carrier status by Multiplex...
American Journal of Medical Genetics Part A
Wed Oct 14, 2020 11:17
Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19
Abstract The national importance of telemedicine for safe and effective patient care has been highlighted by the current COVID‐19 pandemic. Prior to the 2020 pandemic the Division of Genetics and Metabolism piloted a telemedicine program focused on initial and follow‐up visits in the patients' home. The goals were to increase access to care, decrease missed work, improve scheduling, and avoid the transport and exposure of medically fragile patients. Visits were conducted by physician medical geneticists,...
American Journal of Medical Genetics Part A
Wed Oct 14, 2020 11:09
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
Abstract Robinow syndrome (RS) is a genetically heterogeneous disorder characterized by skeletal dysplasia and a distinctive facial appearance. Previous studies have revealed locus heterogeneity with rare variants in DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A underlying the etiology of RS. The aforementioned “Robinow‐associated genes” and their gene products all play a role in the WNT/planar cell polarity signaling pathway. We performed gene‐targeted Sanger sequencing, exome sequencing, genome sequencing,...
American Journal of Medical Genetics Part A
Tue Oct 13, 2020 16:36
Ultra‐rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours
Abstract Genetic diseases are a major cause of neonatal morbidity and mortality. The clinical differential diagnosis in severely ill neonates, especially in premature infants, is challenging. Next generation sequencing (NGS) diagnostics is a valuable tool, but the turnaround time is often too long to provide a diagnosis in the time needed for clinical guidance in newborn intensive care units (NICU). To minimize turnaround time, we developed an ultra‐rapid whole genome sequencing pipeline and tested...
American Journal of Medical Genetics Part A
Tue Oct 13, 2020 15:40

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