Patterning Defects Research Articles

Pattern of Cleft Lip and Palate According to Gender in Children of Bangladesh

Background: Cleft defects are the most common congenital anomalies of the orofacial region. The typical distribution of cleft type is cleft lip, cleft palate and combined cleft lip and palate. To determine the frequency of Cleft Lip (CL), Cleft Palate (CP) and combined cleft lip and palate (CLP) according to gender. Materials and methods: It is a cross sectional observational study with some analytical components which was carried out in the Department of Anatomy of Chittagong Medical College From April 2021 to March 2022. It was conducted among 100 children of cleft lip and palate. Data was collected from LMRF (Lions Mukhlesur Rahman Foundation) Children Hospital, Smile train (CMSOGH) cleft project and Chattogram Maa Shishu O General Hospital, Agrabad Chattogram. The data were recorded in a predesigned questionnaire. Variables were presented as percentages (%) and were compared by Chi-Square test. All statistical analysis were performed using SPSS statistics for Windows, version 26.0. Finally the results were presented using tables and figures. Results: Among the 100 participants there were 58 male and 42 female children with a ratio of 1.38:1. 68% had combined cleft lip and palate, 22% had isolated cleft palate and only 10% had isolated cleft lip. Among the 10 children with cleft lip 4 were male and 6 were female. 80% of the cleft lip was on the left side. Among 22 children of cleft palate 9 were male and 13 were female. Lastly among 68 children of cleft lip and palate 45 were male and only 23 were female. 44% of cleft lip and palate was on the left side, 32% bilateral and only 24% was on the right side. Conclusion: This study reported the pattern of cleft defects with gender distribution in our country which shows females are more likely to have isolated CL and CP and males have CLP predominantly. Chatt Maa Shi Hosp Med Coll J; Vol.22 (2); July 2023; Page 3-7

Comparison of baseline clinical characteristics and patterns of visual field defects between high-tension and normal-tension glaucoma

AimsTo compare the baseline clinical characteristics and patterns of visual field defects between high-tension glaucoma (HTG) and normal-tension glaucoma (NTG) in the Laser in Glaucoma and Ocular Hypertension (LiGHT) China...

Enhanced detection of unknown defect patterns on wafer bin maps based on an open-set recognition approach

It is crucial to detect and classify defect patterns on wafers in semiconductor-manufacturing processes for wafer-quality management and prompt analysis of defect causes. In recent years, continuous technological innovation and advancements in semiconductor-industry processes have led to an increase in unknown defect patterns, which must be detected and classified. However, detection of unknown defect patterns is difficult due to complex reasons, such as training on non-existent defect classes, closed datasets owing to industrial security, and labeling large volumes of manufacturing data. Owing to these challenges, methods for detecting unknown defect patterns in an actual semiconductor-manufacturing environment primarily rely on qualitative indicators, such as intuition and experience of engineers. To overcome these problems, this study proposes a methodology based on open-set recognition to accurately detect unknown defect patterns. This methodology begins with two preprocessing steps: constrained mean filtering (C-mean filtering); and Radon transform to diminish noise and efficiently extract features from wafer-bin maps. This study then develops an entropy-estimation one-class support vector machine (EEOC-SVM), which accounts for the uncertainty in the one-class SVM classification results. EEOC-SVM computes entropy-uncertainty scores based on the distance between decision boundaries and samples and then reclassifies uncertain samples using a weighted sum of uncertainties for each class. This method can effectively detect unknown defect patterns. The proposed method achieves a detection performance of over 98 % for various defect classes based on experiments conducted with new defect patterns occurring in actual semiconductor-manufacturing environments. These results confirm that the proposed method is an effective tool for detecting and addressing unknown defect patterns.

A Novel Defect Segmentation Model via Integrating Enhanced U-Net with Convolutional Block Attention Mechanisms

Abstract. Defect segmentation in industrial quality control is pivotal for maintaining high product surface standards, but it remains a challenge due to complex defect patterns and varying backgrounds. Traditional segmentation methods often struggle with sensitivity and specificity, leading to either missed defects or false positives. In order to address the above issues this paper presents an advanced defect segmentation model that integrates a Convolutional Block Attention Module (CBAM) with an enhanced U-Net architecture. Our method leverages the spatial and channel-wise attention mechanisms to focus more accurately on subtle defects and remove background interference, enhancing the discriminative power of the feature maps generated by the U-Net. Experimental results on SD-saliency-900 industrial datasets demonstrate significant improvements in segmentation accuracy and robustness compared to existing state-of-the-art methods, confirming the effectiveness of integrating attention mechanisms in deep learning models for complex defect segmentation tasks. Specifically, our model achieved a mean Intersection over Union (mIoU) of 0.87, which is an increase of 5% over the traditional U-Net model and a 4% improvement compared to the DeepLabv3+ model. These results indicate a substantial enhancement in defect detection performance, validating the superiority of our approach.

Research on the Forward Simulation and Intelligent Detection of Defects in Highways Using Ground-Penetrating Radar

The increasing variety and frequency of subgrade defects in operational highways have led to a rise in road safety incidents. This study employed ground-penetrating radar (GPR) detection and forward simulation to analyze the characteristic patterns of common subgrade defects, such as looseness, voids, and cavities. Through the integration of instantaneous feature information from different defect patterns with complex signal techniques, the boundary judgment of structural layers and anomalies in GPR images of various subgrade defects was improved. An intelligent recognition platform was established, and a radar image dataset was created and trained to evaluate the recognition performance of the You Only Look Once (YOLO) v3 and Single-Shot Multi-Box Detector (SSD) algorithms. Evaluation metrics such as precision, recall, F1-score, average precision (AP), and mean average precision (mAP) were used to assess the detection efficiency and accuracy for subgrade defect images. The results showed that YOLO v3 achieved an average detection accuracy of 76.69%, while the SSD achieved 75.07%. This study demonstrates that the reliability of the intelligent recognition and classification of highway subgrade defects can be enhanced by using GPR for non-destructive testing.

Temporal trends in the prevalence of major birth defects in China: a nationwide population-based study from 2007 to 2021

BackgroundBirth defects constitute a significant public health issue worldwide, yet there is a lack of comprehensive population-based data for the Chinese population.MethodsWe analyzed data from the China National Population-based Birth Defects Surveillance System from 2007 to 2021, we calculated the prevalence rates of selected birth defects, stratified by maternal residence, geographic region, maternal age, and infant sex. The Joinpoint regression model was utilized to assess trends and annual percent changes in prevalence.ResultsFrom 2007 to 2021, significant downward trends in prevalence were observed for neural tube defects (NTDs), hydrocephalus, cleft lip with or without palate (CL/P), limb reduction defects (LRD), omphalocele, Down syndrome, and tetralogy of Fallot (TOF). Conversely, upward trends were identified for hypospadias, cleft palate (CP), microtia/anotia, polydactyly, syndactyly, ventricular septal defect (VSD), atrial septal defect/patent foramen ovale (ASD/PFO), and patent ductus arteriosus (PDA). Younger mothers exhibited a higher prevalence of hydrocephalus, gastroschisis, CL/P, and polydactyly, while anotia/microtia, Down syndrome, and congenital heart diseases (CHDs) were more common in mothers aged 35 years or older. Significant variations in the prevalence of anencephalus, spina bifida, CL/P, anorectal atresia/stenosis, hypospadias, polydactyly, syndactyly, VSD, ASD/PFO, and PDA were found across different maternal residences and geographic regions.ConclusionThis study highlights the diverse trends and prevalence patterns of major birth defects, underscoring the necessity for defect-specific public health interventions.Graphical abstract

The Heterotaxy Gene CCDC11 Is Important for Cytokinesis via RhoA Regulation.

Mutations in CCDC11 (cfap53) have been identified in multiple patients with heterotaxy (Htx), a disorder of left-right (LR) patterning of the internal organs. In Xenopus, depletion of Ccdc11 causes defects in LR patterning, recapitulating the patient phenotype. Upon Ccdc11 depletion, monociliated cells of the Left-Right Organizer (LRO) exhibit multiple cilia per cell. Unexpectedly, we found that Ccdc11 is necessary for successful cytokinesis, explaining the multiciliation phenotype observed in Ccdc11-depleted cells. The small GTPase RhoA is critical for cytokinesis, and our Ccdc11 depletion phenotypes are reminiscent of RhoA loss of function. Here, we demonstrate that during cytokinesis CCDC11 is localized to the cytokinetic contractile ring overlapping with RhoA, and CCDC11 regulates total RhoA protein levels. Our results connect CCDC11 to cytokinesis and LR patterning via RhoA regulation, providing a potential mechanism for heterotaxy disease pathogenesis.

Supraspinal contributions to defective antagonistic inhibition and freezing of gait in Parkinson's disease.

The neuromuscular circuit mechanisms of freezing of gait in Parkinson's disease have received little study. Technological progress enables researchers chronically to sense local field potential activity of the basal ganglia in patients while walking. To study subthalamic activity and the circuit processes of supraspinal contributions to spinal motor integration, we recorded local field potentials, surface EMG of antagonistic leg muscles and gait kinematics in patients while walking and freezing. To evaluate the specificity of our findings, we controlled our findings to internally generated volitional stops. We found specific activation-deactivation abnormalities of oscillatory activity of the subthalamic nucleus both before and during a freeze. Furthermore, we were able to show with synchronization analyses that subthalamo-spinal circuits entrain the spinal motor neurons to a defective timing and activation pattern. The main neuromuscular correlates when turning into freezing were as follows: (i) disturbed reciprocity between antagonistic muscles; (ii) increased co-contraction of the antagonists; (iii) defective activation and time pattern of the gastrocnemius muscle; and (iv) increased subthalamo-muscular coherence with the gastrocnemius muscles before the freeze. Beyond the pathophysiological insights into the supraspinal mechanisms contributing to freezing of gait, our findings have potential to inform the conceptualization of future neurorestorative therapies.

Confinement Modulates Axial Patterning in Regenerating Hydra

The establishment of the body plan is a major step in animal morphogenesis. The role of mechanical forces and feedback in patterning the body plan remains unclear. Here we explore this question by studying regenerating Hydra tissues confined in narrow cylindrical channels, which constrain their morphology. We find that frustration between the orientation of the channel and the inherited axis in the regenerating tissues can lead to the formation of a multiaxial body plan. The morphological outcome is directly related to the pattern of nematic topological defects that emerges in the organization of the supracellular actomyosin fibers. When the inherited axis, which can be read out from the initial alignment of the supracellular fibers in the confined spheroid, is parallel to the channel's axis, the tissue regenerates normally into animals with a single body axis aligned with the channel. However, regenerating spheroids that are confined in a frustrated perpendicular configuration often develop excess defects (including negatively charged −1/2 defects) and regenerate into multiaxial morphologies. The influence of mechanical constraints on the regenerated body plan argues against an axial patterning mechanism that is based solely on inherited gradients of biochemical morphogens. We further show that the dependence of the regeneration outcomes on the initial tissue orientation can be recapitulated by a biophysical model, which considers the coupled dynamics of the nematic organization of the actomyosin fibers and a morphogen concentration field, incorporating a mechanochemical feedback loop involving strain-dependent morphogen production at defect sites. Published by the American Physical Society 2024

Pattern of Birth Defects, Association And Their Outcomes Among Neonates In A Tertiary Care Hospital In Bangladesh

Introduction: Birth defects are one of the major cause of stillbirths and neonatal mortality in developed and developing countries. The prevalence of birth defects varies in different parts of the world. In many cases, the causes are unknown; however, several factors known to be associated are genetic factors, maternal age, health, dietary factors, maternal infections, geographical factors, drugs, smoking and irradiation. Objectives: To identify the pattern of birth defects, association and their outcomes among neonates Methodology: This observational cross-sectional study was conducted in the department of neonatology, Dhaka Medical College Hospital, Dhaka from 1st July 2019 to 30th June 2021. Sample was collected by purposive sampling technique. Total 407 babies were enrolled. Out of them 207 babies were with birth defects in group-A and 200 babies had no birth defects in group-B. Detail demographic data were collected from the informant and recorded in structured case report form. Clinical examination and relevant investigations were done. Data processing work consist of registration schedules, editing computerization, preparation of dummy table, analyzing and matching of data. Results: In this study the two study groups were almost similar with respect to their demographic characteristics like sex, residence, place of delivery, mode of delivery, gestational age, parity and maternal age. The total number of admission during this period was 3050 and total number of birth defects was 207 (6.78%0). In this study on evaluation of maternal risk factors, group-A maternal high blood pressure were in 25.12% cases( OR=1.62;p=.002), maternal diabetes were in 15.46% cases( OR=1.12;p=.001), poor maternal nutritional status was 14.50%( p=.001), history of taking folic acid was 9.66%(OR=0.10;p=.001), 5.80% of the patient had history of exposure to antenatal radiation(OR=.06;p=.001), 4.43% had history of consanguinity(OR=.05;p=.001), 2.420% of women noticed that exposure to pesticides(OR=.025;p=.001), H/O of taking anticonvulsant was 2.420%(OR=.025;p=.001). Group-B was maternal high blood pressure in 7.25% cases(OR=.078;p=.001), maternal diabetes were in 6.28% cases(OR=.067;p=.001), poor maternal nutritional status was 5.80%(p=.001), history of taking folic acid was 4.83% (OR=.051;p=.001), 1.45% of the patient had history of exposure to antenatal radiation(OR=.015;p=.001) and 0.97% had history of consanguinity(OR=.01;p=.001). In this study pattern of birth defects summarized as the cardiovascular system defects was the most commonly affected(26.57%), followed by defects in the head, neck ear,- and eye(19.32%), Syndromes(14.50%), gastrointestinal defects(12.56%), musculoskeletal system defects(10.14%), central nervous system defects (8.70%) and genitourinary system(4.83%) of total defects. In group-A 78.26% of the patients recovered and 23 patients expired during hospital stay (p=.001). In group-B 85.99% of the patients recovered and 17 patients expired. Conclusion: Congenital cardiac defects were the most prevalent anomaly detected. Maternal high blood pressure and diabetes are the risk factors of birth defects in neonates. Antenatal diagnosis and proper management can improve the outcome of these neonates. J Dhaka Med Coll. 2023; 32(1) : 43-50

Self-assembled micro-patterns in uphill-diffusion solution system.

In this work we present self-organized regular patterns in a solution system through uphill-diffusion. Micrometer thick organic semiconductor solution is sandwiched between a substrate and cover-plate. Self-assembled regular patterns can be observed on the substrate after solvent evaporation. Different micro-patterns and pattern defects were displayed and analyzed. Mechanisms of defect formation, mode selection process during patten generation, and pattern sedimentation onto substrate from solution were proposed. Organic thin film transistors were fabricated with the assembled line patterns which demonstrate a promising way to produce patterned micro/nano materials.

Optic Chiasmitis as an Isolated Manifestation of Myelin Oligodendrocyte Glycoprotein-Associated Disease – a Case Report

IntroductionThe most common cause of chiasmopathy is compression of the optic chiasm by parasellar tumours. The tumours may produce any pattern of visual field defect depending on the tumour location and the patient’s chiasmal anatomy. Rare, non-compressive causes of chiasmopathy include, among others, infectious, post-infectious, inflammatory, autoimmune, demyelinating, toxic and ischaemic processes. Chiasmopathy can also occur due to trauma and radiation treatment.Case reportWe report a case of a 43-year-old patient who was admitted to our department because of a two-month history of headaches and constant, symmetrical blurriness over the temporal sides of vision. After a wide-ranging diagnostic process, the patient was diagnosed with an isolated optic chiasmitis in the course of myelin oligodendrocyte glycoprotein-associated disease, which is a rare, monophasic or relapsing, antibody-mediated inflammatory demyelinating disorder of the central nervous system.ConclusionsIt is crucial to remember that parasellar tumours are not the only cause of bitemporal hemianopsia. Patients with bitemporal hemianopsia, if there is no compressive lesion of the optic chiasm, should be investigated for optic chiasmitis. Optic chiasmitis is not a diagnosis in itself, but a sign of an underlying pathology, and during its evaluation should be treated as a variation of atypical optic neuritis. We hope that this ophthalmic manifestation of a rare neurological disease will make other clinicians aware of the utter importance of careful evaluation of visual disturbances.

Pituitary gland duplication syndrome - An international imaging analysis.

Duplication of the pituitary gland is a rare developmental anomaly. Multiple associated craniofacial malformations have previously been reported with the largest series to date consisting of five patients. In this multi-institutional series of ten patients, we present a detailed review of the imaging features and discuss a possible overarching pathogenesis that would explain most of the detected malformations. Inclusion criteria for this retrospective imaging review were the presence of a pituitary stalk and gland duplication and the characteristic appearance of the hypothalamic ventral midline. In addition to the clinical presentation, we recorded the imaging findings of ten patients (9 female) through onsite and online reviews. Genetic analysis was available for six patients. The duplicated pituitary stalk and gland showed normal imaging appearances in all patients. Mammillary bodies were clearly identified lateral to the characteristic prominence of the hypothalamic ventral midline. Strands of tissue extending to the anterior dura ("limited ventral myeloschisis") were noted at the medulla oblongata in 10, and at the cervical spinal cord in 7 patients. The medulla oblongata showed a "butterfly" appearance on axial images in 9 patients. Ten patients had cervical segmentation anomalies ("zipper"-like), 9 anterior-posterior brainstem patterning defects (small pons, elongated medulla), and corpus callosum measurements were abnormal in all patients. Three patients each presented with diencephalic-mesencephalic junction abnormalities and 4 with an anterior mesencephalic "cap". An oropharyngeal teratoma was present in four patients. Genetics was normal in three of the six patients studied; the remainder were found to have mutations in EFNB1 and a gene variant of GIT1, two copies of 7. And 8. exon of SMN1 gene, and 2.126 megabase duplication at bands q11.1 and q11.2 of one chromosome 15, respectively. Duplication of the pituitary gland presents as well-defined craniofacial and cervical spine malformation phenotype. Axial mesoderm duplication generating an excess of Sonic Hedgehog may be the primary embryological driver leading to this condition. CFNS＝ Craniofrontonasal Syndrome; DPG＝ Duplication of the Pituitary Gland; SHH＝ Sonic Hedgehog.

Simple-Challenging-Difficult (SCD) Difficulty Classification for Vertical Bone Augmentation.

To propose a new difficulty classification for vertical bone augmentation (VBA) based on different defect morphologies. VBA procedures for dental implant placement present significant biological and technical challenges. Among the various techniques, guided bone regeneration (GBR) provides an optimal balance between the anticipated bone gain and the likelihood of postoperative complications. Understanding the specific configuration of defects and adjacent bone peaks is essential for tailoring treatment strategies and improving outcomes. The proposed Simple-Challenging-Difficult (SCD) difficulty classification was based on defect morphology (V-shaped, U-shaped, VV-shaped), including defect size (Height: < 5 mm, 5-8 mm, and > 8 mm), proximity of neighboring bony walls (Width: < 10 mm, 10-20 mm, and > 20 mm), as well as predictability of treatment outcomes. The proposed difficulty classification for VBA serves as a guide for selecting the most appropriate GBR treatment modality and sequence for safe and predictable management of VBA in implant therapy. In addition, when determining the preferred treatment, it is again essential to consider site-specific and patient-related factors alongside the clinician's surgical experience and skill. Identifying defect patterns and bone peak structures is crucial, and the proposed classification assists in decision-making in VBA treatment.

Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance

BackgroundMulti-locus imprinting disturbance (MLID) with methylation defects in various differentially methylated regions (DMRs) has recently been identified in approximately 150 cases with imprinting disorders (IDs), and deleterious variants have been found in genes related to methylation maintenance of DMRs, such as those encoding proteins constructing the subcortical maternal complex (SCMC), in a small fraction of patients and/or their mothers. However, integrated methylation analysis for DMRs and sequence analysis for MLID-causative genes in MLID cases and their mothers have been performed only in a single study focusing on Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) phenotypes.ResultsOf 783 patients with various IDs we have identified to date, we examined a total of 386 patients with confirmed epimutation and 71 patients with epimutation or uniparental disomy. Consequently, we identified MLID in 29 patients with epimutation confirmed by methylation analysis for multiple ID-associated DMRs using pyrosequencing and/or methylation-specific multiple ligation-dependent probe amplification. MLID was detected in approximately 12% of patients with BWS phenotype and approximately 5% of patients with SRS phenotype, but not in patients with Kagami-Ogata syndrome, Prader-Willi syndrome, or Angelman syndrome phenotypes. We next conducted array-based methylation analysis for 78 DMRs and whole-exome sequencing in the 29 patients, revealing hypomethylation-dominant aberrant methylation patterns in various DMRs of all the patients, eight probably deleterious variants in genes for SCMC in the mothers of patients, and one homozygous deleterious variant in ZNF445 in one patient. These variants did not show gene-specific methylation disturbance patterns. Clinically, neurodevelopmental delay and/or intellectual developmental disorder (ND/IDD) was observed in about half of the MLID patients, with no association with the identified methylation disturbance patterns and genetic variants. Notably, seven patients with BWS phenotype were conceived by assisted reproductive technology (ART).ConclusionsThe frequency of MLID was 7.5% (29/386) in IDs caused by confirmed epimutation. Furthermore, we revealed diverse patterns of hypomethylation-dominant methylation defects, nine deleterious variants, ND/IDD complications in about half of the MLID patients, and a high frequency of MLID in ART-conceived patients.

Recurrence analysis of 3D point clouds for the detection of surface anomalies in advanced manufacturing

Due to tool wear, machine malfunction, and other internal and external factors, surface anomalies are widely observed in diverse manufacturing processes, such as machining, stamping, and additive manufacturing. The detection of surface anomalies remains an important challenge for assuring the quality and reliability of manufacturing products. Conventional image-based approaches lack the ability to fully capture the 3-dimensional (3D) morphologies of surface defects, which hinder their applications in defect identification, characterization, and diagnosis. The emerging 3D sensing technologies, such as laser or structured-light scanning, enable the collection of point clouds, which embodies a comprehensive representation of defect-altered surface morphologies in 3D space. However, scanned point cloud data are unstructured and oftentimes contain large numbers of points, which pose significant challenges for the recognition of defective surface patterns. To address the challenges, this study develops a recurrence-based approach for the representation learning of 3D point clouds to detect surface defects in manufactured products. Specifically, with a scanned point cloud, key points are first extracted using a voxel-based sampling strategy, and each key point and its neighboring points form a localized sub-region. Then, a recurrence network is generated through a tailored approach, which considers both the morphology similarity and spatial closeness of sub-regions. For anomaly detection, a tensor-based one-class classification model is further deployed to distinguish abnormal surface patterns from normal ones. The developed methodology is experimentally evaluated through simulation and real-world case studies. Experimental results have demonstrated that the developed methodology outperforms benchmarks, highlighting its efficacy in the detection of surface anomalies.

CD44 facilitates adhesive interactions in airineme-mediated intercellular signaling.

Specialized cellular protrusions facilitate local intercellular communications in various species, including mammals. Among these, airinemes play a crucial role in pigment pattern formation in zebrafish by mediating long-distance Notch signaling between pigment cells. Remarkably, airinemes exhibit large vesicle-like structure at their tips, which are pulled by macrophages and delivered to target cells. The interaction between macrophages and Delta-ligand carrying airineme vesicles is essential for initiating airineme-mediated signaling, yet the molecular detail of this interaction remains elusive. Through high-resolution live imaging, genetic in vivo manipulations and in vitro adhesion assay, we found that adhesive interactions via the extracellular domain of CD44, a class I transmembrane glycoprotein, between macrophages and airineme vesicles are critical for airineme signaling. Mutants lacking the extracellular domain of CD44 lose their adhesiveness, resulting in a significant reduction in airineme extension and pigment pattern defects. Our findings provide valuable insights into the role of adhesive interactions between signal-sending cells and macrophages in a long-range intercellular signaling.

Fabric Defect Detection Using Transfer Learning

Transfer learning in fabric defect detection involves utilizing pre-trained deep learning models on a large dataset, typically from a different domain, and fine-tuning them on a smaller dataset that is specific to fabric defects. By leveraging transfer learning, the limitations of limited annotated data for fabric defect detection can be overcome by utilizing the knowledge gained from a more extensive and diverse dataset. The pre-trained model's learned features are adjusted to recognize specific fabric defect patterns, resulting in more accurate and efficient defect detection. This approach reduces the reliance on a massive labelled dataset for training, which is particularly beneficial in industrial applications where obtaining a vast amount of annotated fabric defect images may be challenging. Ultimately, transfer learning enhances the model's ability to generalize and detect fabric defects with higher precision, thereby contributing to improved quality control in textile manufacturing processes.

Structural Features of Optic Nerve Head in Glaucoma with Single-hemispheric and Bi-hemispheric Visual Field Defects

Purpose: To compare the structural features of the optic nerve head (ONH) in moderate glaucoma patients with single-hemispheric and bi-hemispheric visual field (VF) defects.Methods: Patients with open-angle glaucoma (OAG) and a VF mean deviation between -6 and -12 dB were retrospectively enrolled. Based on VF defect patterns, eyes were classified into two groups: those with single-hemispheric VF defects and those with bi-hemispheric VF defects. Structural features analyzed included Bruch’s membrane opening area, lamina cribrosa (LC) thickness, temporal β-zone parapapillary atrophy with and without Bruch's membrane (βPPA&lt;sub&gt;+BM&lt;/sub&gt;, βPPA&lt;sub&gt;-BM&lt;/sub&gt;, respectively), and peripapillary retinal nerve fiber layer thickness using spectral-domain optical coherence tomography.Results: Out of 137 eyes from 124 patients, 80 eyes had single-hemispheric VF defects and 57 eyes had bi-hemispheric VF defects. The bi-hemispheric group exhibited longer axial length (&lt;i&gt;p&lt;/i&gt; = 0.038), thinner central corneal thickness (&lt;i&gt;p&lt;/i&gt; = 0.003), thinner LC (&lt;i&gt;p&lt;/i&gt; &lt; 0.001), and larger temporal βPPA&lt;sub&gt;+BM&lt;/sub&gt; (&lt;i&gt;p&lt;/i&gt; = 0.002) compared to the single-hemispheric group.Conclusions: Among Korean OAG patients with moderate VF defects, those with bi-hemispheric VF defects showed more structurally vulnerable optic discs characterized by longer axial lengths, thinner central corneal thickness, thinner LC, and larger β PPA+BM compared to those with single-hemispheric VF defects. These findings underline the importance of evaluating ONH structures in monitoring glaucoma progression particularly in patients with extensive VF damage.

De novo and inherited micro-CNV at 16p13.11 in 21 Chinese patients with defective cardiac left-right patterning.

Copy number changes at Chromosomal 16p13.11 have been implicated in a variety of human diseases including congenital cardiac abnormalities. The clinical correlation of copy number variants (CNVs) in this region with developmental abnormalities remains controversial as most of the patients inherit the duplication from an unaffected parent. We performed CNV analysis on 164 patients with defective left-right (LR) patterning based on whole genome-exome sequencing (WG-ES) followed by multiplex ligation-dependent probe amplification (MLPA) validation. Most cases were accompanied with complex congenital heart disease (CHD). CNVs at 16p13.11 were identified in a total of 21 cases, accounting for 12.80% (21/164) evaluated cases. We observed a marked overrepresentation of chromosome 16p13.11 duplications in cases when compared with healthy controls according to literature reports (15/164, 9.14% versus 0.09% in controls). Notably, in two independent family trios, de novo 16p13.11 micro-duplications were identified in two patients with laterality defects and CHD. Moreover, 16p13.11 micro-duplication was segregated with the disease in a family trio containing 2 affected individuals. Notably, five coding genes, NOMO1, PKD1P3, NPIPA1, PDXDC1, and NTAN1, were potentially affected by micro-CNV at 16p13.11 in these patients. Our study provides new family-trio based evidences to support 16p13.11 micro-duplications predispose individuals to defective cardiac left-right patterning and laterality disorder.