CCDD

AIM: This study aims to evaluate the long-term results of sliding shape extraocular muscle transposition, which is a novel operation method of delivering both vascular protection and strengthening of the muscles and transposition of the muscles. METHODS: The patients' files were scanned retrospectively. All patients underwent a complete eye examination in addition to motility examination, both preoperatively and postoperatively. Patients were followed up for at least 1 year...

Automatic classification of ECG is very important for early prevention and auxiliary diagnosis of cardiovascular disease patients. In recent years, many studies based on ECG have achieved good results, most of which are based on single-label problems; one record corresponds to one label. However, in actual clinical applications, an ECG record may contain multiple diseases at the same time. Therefore, it is very important to study the multilabel ECG classification. In this paper, a multiscale residual deep neural network CSA-MResNet model based on the channel spatial attention mechanism is proposed...

BACKGROUND: OryzaGenome ( https://viewer.shigen.info/oryzagenome21detail/index.xhtml ), a feature within Oryzabase ( https://shigen.nig.ac.jp/rice/oryzabase/ ), is a genomic database for wild Oryza species that provides comparative and evolutionary genomics approaches for the rice research community. RESULTS: Here we release OryzaGenome2.1, the first major update of OryzaGenome. The main feature in this version is the inclusion of newly sequenced genotypes and their meta-information, giving a total of 217 accessions of 19 wild Oryza species (O...

Cultivated rice varieties are all diploid, and polyploidization of rice has long been desired because of its advantages in genome buffering, vigorousness, and environmental robustness. However, a workable route remains elusive. Here, we describe a practical strategy, namely de novo domestication of wild allotetraploid rice. By screening allotetraploid wild rice inventory, we identified one genotype of Oryza alta (CCDD), polyploid rice 1 (PPR1), and established two important resources for its de novo domestication: (1) an efficient tissue culture, transformation, and genome editing system and (2) a high-quality genome assembly discriminated into two subgenomes of 12 chromosomes apiece...

BACKGROUND: Cerebral creatine deficiency disorders (CCDD) are inherited metabolic disorders of creatine synthesis and transport. Urine creatine metabolite panel is helpful to identify these disorders. METHODS: We reviewed electronic patient charts for all patients that underwent urine creatine metabolite panel testing in the metabolic laboratory at our institution. RESULTS: There were 498 tests conducted on 413 patients. Clinical, molecular genetics and neuroimaging features were available in 318 patients...

Background: Congenital fibrosis of the extraocular muscles (CFEOM) is characterized by ptosis and non-progressive restrictive ophthalmoplegia. CFEOM1 is a stereotypical phenotype with isolated bilateral ptosis, bilateral ophthalmoplegia, absent upgaze, and globe infraduction. CFEOM3 is a more variable phenotype that can include unilateral disease, absent ptosis, residual upgaze, and/or orthotropia. Most cases of CFEOM1 result from recurrent heterozygous KIF21A missense mutations and less commonly from recurrent heterozygous TUBB3 missense mutations...

A 10-year-old boy with unilateral cryptorchidism and renal aplasia displayed features of unilateral congenital pupil sparing third cranial nerve palsy with exotropia manifesting novel dysinnervation encompassing synergistic divergence with upshoot, convergence on attempted upgaze, gaze-evoked phasic conjugate torsion, and gaze-evoked nystagmus. Congenital third nucleus/nerve hypoplasia with secondary dysinnervation is classfied as congenital cranial dysinnervation disorder (CCDD). It is speculated that miswiring between prenuclear structures, otolithic pathways, interstitial nucleus of Cajal (INC), nucleus prepositus hypoglossi, and third and sixth nerve nuclei likely resulted in this novel dysinnervation...

BACKGROUND: This study evaluated the VIsion PERformance (VIPER) simulator's ability to assess the functional visual performance in warfighters conducting civilian and military tasks. METHODS: Thirty service members, aged 25-35 years old with a best corrected distance visual acuity (VA) better than or equal to 20/20 or logarithm of the minimum angle of resolution (logMAR) 0.00, were randomized to locate and identify road signs and mock improvised explosive devices (IEDs) under either daytime conditions or with infrared imagery, with (cc) and without (sc) wearing their habitual correction...

Intramuscular motor innervation is an essential process in neuromuscular development. Recently, mutations in COL25A1, encoding CLAC-P/collagen XXV, have been linked to the development of a congenital cranial dysinnervation disorder (CCDD). Yet the molecular mechanisms of intramuscular innervation and the etiology of CCDD related to COL25A1 have remained elusive. Here, we report that muscle-derived collagen XXV is indispensable for intramuscular innervation. In developing skeletal muscles, Col25a1 expression is tightly regulated by muscle excitation...

In order to enhance the accuracy of computer aided electrocardiogram analysis, we propose a deep learning model called CBRNN to assist diagnosis on electrocardiogram for clinical medical service. It combines two sub networks which are convolutional neural network (CNN) and bi-directional recurrent neural network (BRNN). In the model, CNN with one-dimension convolution is employed to extract features for each lead of ECG, and BRNN is used to fuse features of different leads to represent deeper features. In the training step, we use more than 40 thousand training data and more than 19 thousand validation data to obtain the optimal parameters of the model...

Marcus Gunn jaw-winking syndrome (MGJWS) is a rare form of congenital blepharoptosis and one of the congenital cranial dysinnervation disorders (CCDD). In addition, morning glory disc anomaly (MGDA) is a congenital optic disc anomaly of unknown etiology. The present report is the first to describe an association between MGJWS and MGDA in an otherwise healthy 7-year-old boy. He also had counting finger vision, anisometropia, esotropia, and monocular elevation deficiency in the same eye. In the literature, both MGJWS and MGDA have been reported to be associated with Duane retraction syndrome, a form of CCDD...

Some forms of ophthalmoplegia are congenital and fall into the category of Congenital Cranial Dysinnervation Disorders (CCDDs). These disorders arise from a primary defect of cranial nucleus/nerve development or guidance. Many have substantial limitations of ocular motility with or without other associated features. The type and degree of ophthalmoplegia can be similar between CCDD subtypes as well as with non-congenital forms of ophthalmoplegia. Therefore diagnostic confirmation often requires neuro-imaging and/or genetic investigations...

AIMS: The purpose of this study was to examine the tools used in Italy to diagnose mild cognitive impairment (MCI). METHODS: In collaboration with the Luigi Amaducci Research Consortium, the Italian Network of Alzheimer Evaluation Units prepared a questionnaire to describe how MCI is diagnosed in the Italian Centres for cognitive disorders and dementia (CCDD). RESULTS: Most of the ninety-two CCDDs participating in the survey were located in hospitals (54...

Cranial motor nuclei in the brainstem innervate diverse types of head and neck muscles. Failure in establishing these neuromuscular connections causes congenital cranial dysinnervation disorders (CCDDs) characterized by abnormal craniofacial movements. However, mechanisms that link cranial motor nuclei to target muscles are poorly understood at the molecular level. Here, we report that protocadherin-mediated repulsion mediates neuromuscular connection in the ocular motor system in zebrafish. We identify pools of abducens motor neurons that are topographically arranged according to soma size and convergently innervate a single muscle...

Cultivated rice ( Oryza sativa L.) is very sensitive to salt stress. So far a few rice landraces have been identified as a source of salt tolerance and utilized in rice improvement. These tolerant lines primarily use Na+ exclusion mechanism in root which removes Na+ from the xylem stream by membrane Na+ and K+ transporters, and resulted in low Na+ accumulation in shoot. Identification of a new donor source conferring high salt tolerance is imperative. Wild relatives of rice having wide genetic diversity are regarded as a potential source for crop improvement...

AIM: Providing an overview of the neuropsychological tests used in Italian memory clinics (defined as Centers for Cognitive Disorders and Dementias-CCDD in Italy) for the diagnosis of cognitive disorders and dementias. METHODS: A total of 501 CCDD, out of all 536 active CCDD, were surveyed between February 2014 and August 2015 to verify the characteristics of the centres who performed a comprehensive neuropsychological assessment (NPA), defined as the administration of at least one test for verbal and visual episodic memory, attention, constructional praxis, verbal fluency and executive functions (minimum core tests-MCTs), as part of the diagnostic process...

Congenital cranial dysinnervation disorders (CCDDs) comprise a heterogeneous spectrum of diseases characterized by congenital, non-progressive impairment of eye, eyelid and/or facial movements including Möbius syndrome, Duane retraction syndrome, congenital ptosis, and congenital fibrosis of the extraocular muscles. Over the last 20 years, several CCDDs have been identified as neurodevelopmental disorders that are caused by mutations of genes involved in brain and cranial nerve development, e.g. KIF21A and TUBB3 that each plays a pivotal role for microtubule function...

Congenital cranial dysinnervation disorders (CCDD) is a new term describing a collection of non-progressive neurogenic syndromes. Initially referred to as congenital fibrosis syndrome, it was thought that the primary problem was extraocular muscular maldevelopment. Recent advancements in genetics and neuro-radiology have now determined the initial observation of fibrotic muscles is secondary to a primary lack of innervation from deficient, absent, or misguided cranial nerves. This presentation provides an overview of the known genes and phenotypes currently recognized within the CCDD domain...

Premature ventricular contraction (PVC), which is a common form of cardiac arrhythmia caused by ectopic heartbeat, can lead to life-threatening cardiac conditions. Computer-aided PVC detection is of considerable importance in medical centers or outpatient ECG rooms. In this paper, we proposed a new approach that combined deep neural networks and rules inference for PVC detection. The detection performance and generalization were studied using publicly available databases: the MIT-BIH arrhythmia database (MIT-BIH-AR) and the Chinese Cardiovascular Disease Database (CCDD)...

BACKGROUND: Hybrid weakness, a phenomenon opposite to heterosis, refers to inferior growth and development in a hybrid relative to its pure-line parents. Little attention has been paid to the phenomenological or mechanistic aspect of hybrid weakness, probably due to its rare occurrence. METHODOLOGY/PRINCIPAL FINDINGS: Here, using a set of interspecific triploid F1 hybrids between Oryza sativa, ssp. japonica (genome AA) and a tetraploid wild rice species, O. alta (genome, CCDD), we investigated the phenotypic and physiological differences between the F1 hybrids and their parents under normal and nitrogen-limiting conditions...