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OBJECTIVE: The aim of this systematic review and meta-analysis was to assess the rate of genomic abnormalities detected in pregnancies with apparently isolated hydramnios and explore the role of confirmed fetal phenotype. DATA SOURCES: PubMed, Cochrane Library, Google Scholar and Scopus databases were searched up to May 4, 2024. STUDY ELIGIBILITY CRITERIA: Observational studies, published after the year 2000 and written in a European language, reporting on the genomic outcome of pregnancies complicated with prenatally diagnosed isolated polyhydramnios were included in this meta-analysis. STUDY APPRAISAL AND SYNTHESIS METHODS: The main outcome was the incidence of genomic abnormalities, defined as chromosomal numerical or structural anomalies or monogenic syndromes, diagnosed prenatally or postnatally in neonates from pregnancies complicated with isolated polyhydramnios. Additional outcomes included the incidence of chromosomal abnormalities including both numerical and structural aberrations of the chromosomes (detected by karyotype/chromosomal microarray [CMA]), monogenic abnormalities (detected by next-generation sequencing [NGS] or clinical genetic examination after the result of a normal karyotype/CMA), genetic syndromes in general (diagnosed clinically with or without genetic confirmation), and structural abnormalities detected postnatally. Pooled proportions were calculated for each outcome. RESULTS: Twelve studies (2561 pregnancies complicated with isolated hydramnios) were included in the meta-analysis. The pooled prevalence of genomic anomalies in fetuses with apparently isolated polyhydramnios (12 studies, 2634 fetuses) was 4.5% (95%CI 2.6-7.6). The pooled prevalence of chromosomal abnormalities (11 studies, 2427 fetuses) was 2.1% (95%CI 1.1-3.7). The proportion of major structural defects detected postnatally (9 studies, 1731 fetuses) was 2.9% (95%CI 1.5-5.4); in this particular subgroup (4 studies, 14 fetuses), the pooled prevalence of genomic anomalies was 29.8% (95%CI 11.3-58.6). A meta-regression analysis indicated that the rate of genomic anomalies was positively associated with the severity of hydramnios. Also, the pooled rate of monogenic anomalies was 5.6% (95%CI 2-5; I2 =58%) in the two studies using NGS for genomic diagnosis. CONCLUSIONS: This meta-analysis showed that the rate of genomic anomalies in apparently isolated polyhydramnios is 4.5%; approximately half of them are chromosomal abnormalities and the other half are non-chromosomal genomic anomalies. From a clinical standpoint, CMA and possibly NGS could be considered even in cases of apparently isolated polyhydramnios; this may be even more important in cases of incomplete fetal phenotype. Further studies using NGS and addressing cost-effectiveness issues would fine-tune such recommendations.

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Complex structural chromosome abnormalities such as chromoanagenesis have been reported in acute myeloid leukemia (AML). They are usually not well characterized by conventional genetic methods, and the characterization of chromoanagenesis structural abnormalities from short-read sequencing still presents challenges. Here, we characterized complex structural abnormalities involving chromosomes 2, 3, and 7 in an AML patient using an integrated approach including CRISPR/Cas9-mediated nanopore sequencing, mate pair sequencing (MPseq), and SNP microarray analysis along with cytogenetic methods. SNP microarray analysis revealed chromoanagenesis involving chromosomes 3 and 7, and a pseudotricentric chromosome 7 was revealed by cytogenetic methods. MPseq revealed 138 structural variants (SVs) as putative junctions of complex rearrangements involving chromosomes 2, 3, and 7, which led to 16 novel gene fusions and 33 truncated genes. Thirty CRISPR RNA (crRNA) sequences were designed to map 29 SVs, of which 27 (93.1%) were on-target based on CRISPR/Cas9 crRNA nanopore sequencing. In addition to simple SVs, complex SVs involving over two breakpoints were also revealed. Twenty-one SVs (77.8% of the on-target SVs) were also revealed by MPseq with shared SV breakpoints. Approximately three-quarters of breakpoints were located within genes, especially intronic regions, and one-quarter of breakpoints were intergenic. Alu and LINE repeat elements were frequent among breakpoints. Amplification of the chromosome 7 centromere was also detected by nanopore sequencing. Given the high amplification of the chromosome 7 centromere, extra chromosome 7 centromere sequences (tricentric), and more gains than losses of genomic material, chromoanasynthesis and chromothripsis may be responsible for forming this highly complex structural abnormality. We showed this combination approach's value in characterizing complex structural abnormalities for clinical and research applications. Characterization of these complex structural chromosome abnormalities not only will help understand the molecular mechanisms responsible for the process of chromoanagenesis, but also may identify specific molecular targets and their impact on therapy and overall survival.

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Objectives: To investigate the characteristics of brain structure in children with focal cortical dysplasia (FCD)-induced pharmacoresistant epilepsy, and explore the potential mechanisms of cognitive impairment from the view of gray matter alteration. Methods: 25 pharmacoresistant pediatric patients with pathologically confirmed focal cortical dysplasia (FCD), and 25 gender-matched healthy controls were included in this study. 3.0T MRI data and intelligence tests using the Wechsler Intelligence Scale for Children-Forth Edition (WISC-IV) were generated for all subjects. Voxel-based morphometry (VBM)-diffeomorphic anatomical registration through exponentiated lie algebra (DARTEL) and surface-based morphometry (SBM) analyses were performed to analyze gray matter volume and cortical structure. Two-sample t-tests were used to compare the differences in gray matter volume (P＜0.05, FWE) and cortical thickness (P＜0.001, FWE) between the two groups. Also, the Spearman rank correlation analyses were employed to determine the relationship between structural alterations and neuropsychological results. Results: The WISC-IV scores of the FCD group were significantly lower than those of the HC group in terms of full-scale intelligence quotient (FSIQ), verbal comprehension index (VCI), perceptual reasoning index (PRI), working memory index (WMI), and processing speed index (PSI) (all P＜0.01). Compared with the HC group, in the FCD group, the gray matter volume (GMV) reduced significantly in the left cerebellum_8, cerebellum_Crus2, and bilateral thalamus (P＜0.05, FWE); the GMV increased in the bilateral medial frontal gyrus, right precuneus, and left inferior temporal gyrus (P＜0.05, FWE), and the cortical thickness increased in the bilateral frontal, parietal, and temporal areas (P＜0.001, FWE). Correlation analyses showed that the age of seizure onset had positive correlations with the WISC-IV scores significantly. Meanwhile, the cortex thicknesses of the left pars opercularis gyrus, left middle temporal gyrus, and right inferior temporal gyrus had negative correlations with the WISC-IV scores significantly. Conclusion: FCD patients showed subtle structural abnormalities in multiple brain regions, with significant involvement of the primary visual cortex and language function cortex. And we also demonstrated a crucial correlation between gray matter structural alteration and cognitive impairment.

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Ferroptosis, a type of iron-catalyzed necrosis, is responsible for vascular smooth muscle cell (VSMC) death and serves as a potential therapeutic target for alleviating aortic aneurysm. Here, our study explored the underlying mechanism of ferroptosis affecting VSMC functions and the resultant formation of AAA using its inhibitor Ferrostatin-1 (Fer-1). Microarray-based gene expression profiling was employed to identify differentially expressed genes related to AAA and ferroptosis. An AAA model was established by angiotensin II (Ang II) induction in apolipoprotein E-knockout (ApoE-/- ) mice, followed by injection of Fer-1 and RSL-3 (ferroptosis inducer). Then, the role of Fer-1 and RSL-3 in the ferroptosis of VSMCs and AAA formation was analyzed in Ang II-induced mice. Primary mouse VSMCs were cultured in vitro and treated with Ang II, Fer-1, sh-SLC7A11, or sh-GPX4 to assess the effect of Fer-1 via the SLC7A11/GPX axis. Bioinformatics analysis revealed that GPX4 was involved in the fibrosis formation of AAA, and there was an interaction between SLC7A11 and GPX4. In vitro assays showed that Fer-1 alleviated Ang II-induced ferroptosis of VSMCs and retard the consequent AAA formation. The mechanism was associated with activation of the SLC7A11/GPX4 pathway. Silencing of SLC7A11 or GPX4 could inhibit the ameliorating effect of Fer-1 on the ferroptosis of VSMCs. In vivo animal studies further demonstrated that Fer-1 inhibited Ang II-induced ferroptosis and vessel wall structural abnormalities in AAA mouse through activation of the SLC7A11/GPX4 pathway. Fer-1 may prevent AAA formation through activation of the SLC7A11/GPX4 pathway.

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Objective The imaging findings of X-ray defecography(XRD)and magnetic resonance defecog-raphy(MRD)of patients with Solitary Rectal Ulcer syndrome(SRUS)were retrospectively analyzed to provide important information for clinical diagnosis and treatment.Methods 19 patients with SRUS confirmed by clinical,pathological and colonoscopy were included in this study.Among them,15 patients underwent XRD and 7 patients underwent MRD,and 3 patients underwent both XRD and MRD.Data of all enrolled patients were collected and pelvic floor function was measured.Results In the results of XRD,3 patients(20%)showed rectal intussusception.8 patients(53.3%)showed external rectal prolapse and 2 patients(13.3%)showed moderate rectocele.In addition,there were 2 patients of puborectal muscle hypertrophy,and 1 patient of bladder prolapse and uterine prolapse,respectively.For MRD,3 patients(42.9%)showed rectal mucosal prolapse(partial prolapse).At 4 patients(57.1%)with rectocele,3 patients(all female)had moderate rectocele,1 patient had mild rectocele.3 patients were also observed related anterior and middle compartment organ descent.2 patients of pubulorectal muscle hypertrophy,no sigmoidocoele.Conclusion Defecography can evaluate the structural and functional abnormalities of pelvic floor in SRUS patients,such as external rectal prolapse,rectal protrusion,rectal mucosal prolapse,and rectal intussusception,which has guiding significance for the treatment of SRUS patients.

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Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy. RPGRIP1-related LCA accounts for 5-6% of LCA. We performed whole-exome sequencing and whole-genome sequencing (WGS) on 29 patients with clinically suspected LCA and examined ophthalmic findings in patients with biallelic pathogenic variants of RPGRIP1. In addition to five previously reported cases, we identified five cases from four families with compound heterozygous RPGRIP1 variants using WGS. Five patients had null variants comprising frameshift variants, an Alu insertion, and microdeletions. A previously reported 1339 bp deletion involving exon 18 was found in four cases, and the deletion was relatively prevalent in the Japanese population (allele frequency: 0.002). Microdeletions involving exon 1 were detected in four cases. In patients with RPGRIP1 variants, visual acuity remained low, ranging from light perception to 0.2, and showed no correlation with age. In optical coherence tomography images, the ellipsoid zone (EZ) length decreased with age in all but one case of unimpaired EZ. The retinal structure was relatively preserved in all cases; however, there were cases with great differences in visual function compared to their siblings and a 56-year-old patient who still had a faint EZ line. Structural abnormalities may be important genetic causes of RPGRIP1-related retinal dystrophy in Japanese patients, and WGS was useful for detecting them.

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Diastolic dysfunction (DD) is routinely evaluated in echocardiography to support diagnosis, prognostication, and management of heart failure, a condition highly prevalent in elderly patients. Clinical guidelines were published in 2009, and updated in 2016, pursuing to standardize and improve DD categorization. We aimed to assess the concordance of DD between these two documents in an elderly population and to investigate how left ventricular structural abnormalities (LVSA) impact the reclassification. To evaluate this we analyzed the 308 consecutive transthoracic echocardiograms in patients older than 60 years (70.4 ± 7.7 years-old, 59% women) that fulfilled the inclusion criteria out of the 1438 echocardiograms performed in a tertiary hospital. We found that the prevalence of DD was lower according to the 2016 criteria (64% vs. 91%; p < 0.001), with 207 (67.2%) patients changing category, indicating poor agreement between the guidelines (kappa = 0.21). There were 188 (61%) patients with LVSA, which drove most of the reclassifications in 2016 Grade I DD cases. The prevalence of elevated filling pressures by Doppler halved in this elderly population using the updated recommendations (20.9% vs. 39.2%; p < 0.001). In conclusion the prevalence of DD was lower applying the 2016 guidelines, with a poor agreement with 2009 guidelines in all DD grades. The role of LVSA in reclassifications was particularly evident in Grade I DD, while Doppler parameters drove reclassifications among the more severe grades. If not properly addressed, these discrepancies may undermine the reliance on DD as a diagnostic and prognostic tool, particularly in an elderly population at a higher risk of heart failure.

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OBJECTIVES: To evaluate the association between maternal polymorphisms of NANOS3 rs2016163, HELQ rs4693089, PRIM1 rs2277339, TLK1 rs10183486, ERCC6 rs2228526, EXO1 rs1635501, DMC1 rs5757133, and MSH5 rs2075789 and fetal chromosomal abnormality. METHODS: This retrospective case-control study included 571 women with fetal chromosome abnormalities (330 pregnant women diagnosed with fetal aneuploidy, 241 with fetal de novo structural chromosome pregnancy) and 811 healthy pregnant women between January 2018 and April 2022. All the above polymorphisms were tested using SNaPshot. RESULTS: All the eight polymorphisms were analyzed for genotypes, alleles, under dominant and recessive genetic models. Significant distribution differences of TLK1 rs10183486 in fetal chromosome structural abnormality were found between the case group and control subjects who were <35 years of age [Genotype: p=0.029; Dominant: OR (95 %CI)=0.46 (0.25-0.82), p=0.01 and allele: OR (95 %CI)=0.47 (0.27-0.82), p=0.01 respectively], while no difference was found in the recessive model [OR (95 %CI)=2.49 (0.31-20.40), p=0.39]. In advanced age subgroups for fetal aneuploidy, significant differences were found in genotypes analysis of PRIM1 rs2277339 (p=0.008), allele analysis of TLK1 rs10183486 [OR (95 %CI)=0.62 (0.42-0.91), p=0.02]. For the fetal chromosome structural abnormality population, HELQ rs4693089 revealed a significant distribution difference (p=0.01) but not in the allele, dominant and recessive genetic models analysis (p>0.05 individually). CONCLUSIONS: For older women, maternal PRIM1 rs2277339 and TLK1 rs10183486 polymorphisms may be associated with fetal aneuploidy, while HELQ rs4693089 may be associated with fetal chromosome structural abnormality. Also, carriers of T allele of TLK1 rs10183486 have a lower risk of fetal chromosome structural abnormality in younger women.

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BACKGROUND: New daily persistent headache (NDPH) is a rare primary headache disorder characterized by daily and persistent sudden onset headaches. The pathogenesis of NDPH remains unclear, and there are few white matter imaging studies related to NDPH. The purpose of this study was to investigate the micro-structural abnormalities of white matter in NDPH and provided insights into the pathogenesis of this disease based on tract-based spatial statistics (TBSS). METHODS: Twenty-one patients with NDPH and 25 healthy controls (HCs) were included in this study. T1 structural and diffusion magnetic resonance imaging (MRI) were acquired from all participants. Differences in the fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) between patients with NDPH and HCs were investigated using TBSS analysis. RESULTS: Significantly decreased FA, increased MD and RD were found in patients with NDPH compared to HCs. White matter regions overlaid with decreased FA, increased MD and RD were found in 16 white matter tracts from the Johns Hopkins University ICBM-DTI-81 White-Matter Atlas and Johns Hopkins University White-Matter Tractography Atlas. Specifically, these white matter regions included the right anterior thalamic radiation (ATR), body of the corpus callosum (BCC), bilateral cingulum, left hippocampal cingulum (CGH), left corticospinal tract (CST), forceps major, fornix, left inferior fronto-occipital fasciculus (IFOF), bilateral inferior longitudinal fasciculus (ILF), left posterior limb of the internal capsule (PLIC), right retrolenticular part of the internal capsule (RPIC), splenium of the corpus callosum (SCC), right superior longitudinal fasciculus (SLF) and left uncinate fasciculus (UF). After Bonferroni correction, there were no correlations between the FA, MD, AD and RD values and the clinical characteristics of patients with NDPH (p > 0.05/96). CONCLUSION: The results of our research indicated that patients with NDPH might have widespread abnormalities in the white matter of the brain.

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Sleep is a fundamental biological necessity, the lack of which has severe repercussions on the mental and physical well-being in individuals of all ages. The phrase "sleep-disordered breathing (SDB)" indicates a wide array of conditions characterized by snoring and/or respiratory distress due to increased upper airway resistance and pharyngeal collapsibility; these range from primary snoring to obstructive sleep apnea (OSA) and occur in all age groups. In the general pediatric population, the prevalence of OSA varies between 2% and 5%, but in some particular clinical conditions, it can be much higher. While adenotonsillar hypertrophy ("classic phenotype") is the main cause of OSA in preschool age (3-5 years), obesity ("adult phenotype") is the most common cause in adolescence. There is also a "congenital-structural" phenotype that is characterized by a high prevalence of OSA, appearing from the earliest ages of life, supported by morpho-structural abnormalities or craniofacial changes and associated with genetic syndromes such as Pierre Robin syndrome, Prader-Willi, achondroplasia, and Down syndrome. Neuromuscular disorders and lysosomal storage disorders are also frequently accompanied by a high prevalence of OSA in all life ages. Early recognition and proper treatment are crucial to avoid major neuro-cognitive, cardiovascular, and metabolic morbidities.

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Female infertility, a complex and emotionally challenging condition, impacts millions of women worldwide. Timely and accurate diagnosis is crucial for tailoring effective solutions to overcome fertility challenges. Transvaginal sonography, a real-time and non-invasive imaging modality, is pivotal in this diagnostic process. This review focuses on the structural abnormalities of the female reproductive system related to female infertility, particularly highlighting the capabilities of transvaginal sonography in assessing ovulatory disorders, structural anomalies, endometrial conditions, ovarian reserve, and other contributing factors. It is important to note that while transvaginal sonography excels in detecting structural abnormalities, it may not effectively identify lifestyle and hormonal changes. This limitation underscores the necessity for a comprehensive diagnostic approach that includes additional modalities to address the multifaceted nature of female infertility. Despite acknowledging the inherent limitations and operator dependence of transvaginal sonography, we emphasize its significance in guiding clinicians toward well-informed decisions and personalized treatment plans. Looking forward, we anticipate the continual evolution of sonographic technology, offering enhanced diagnostic capabilities. The commitment to improving fertility outcomes for individuals and couples navigating the intricate path toward parenthood remains paramount. In conclusion, a holistic diagnostic approach incorporating various modalities is essential for a thorough understanding and effective management of female infertility.

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Objective: To explore the structural brain abnormality and its relationship with neuropsychological disorders and electroclinical characteristics in juvenile myoclonic epilepsy (JME) patients. Methods: Sixty-seven patients diagnosed with JME and 56 healthy controls were enrolled. All subjects underwent MRI using T1-weighted 3D brain structural images with 1 mm thickness. Voxel-based morphometry (VBM) and surface-based morphometry (SBM) analyses were performed. They also underwent a series of neuropsychological tests to assess cognitive function. The correlation analyses were conducted between structural changes, neuropsychological outcomes, and electroclinical features. Results: The gray matter concentration (GMC) was decreased in the bilateral pre-central and post-central gyrus, right anterior cingulate gyrus, left posterior orbital region, bilateral occipital regions, bilateral hippocampus and bilateral caudate nucleus in the JME groups (corrected P < 0.05). The evaluation of gray matter volume (GMV) showed significant decrease respectively in bilateral pre-central and post-central gyrus, left paracentral lobule, left orbital gyrus, left amygdala, left basal ganglia and left thalamus of JME patients (P < 0.05). The cortex thicknesses of the right inferior temporal gyrus, right insular gyrus, and right cingulate gyrus had negative correlations with the disease duration significantly. At the same time, the whole-brain white matter volume was positively associated with the course of the disease (P < 0.05). Patients with persistent abnormal EEG discharges had significantly less whole-brain gray matter volume than JME patients with normal EEG (P = 0.03). Correlation analyses and linear regression analyses showed that, in addition to the gray matter volumes of frontal and parietal lobe, the temporal lobe, as well as the basal ganglia and thalamus, were also significantly correlated with neuropsychological tests' results (P < 0.05). Conclusion: The JME patients showed subtle structural abnormalities in multiple brain regions that were not only limited to the frontal lobe but also included the thalamus, basal ganglia, parietal lobe, temporal lobe and some occipital cortex, with significant involvement of the primary somatosensory cortex and primary motor cortex. And we significantly demonstrated a correlation between structural abnormalities and cognitive impairment. In addition, the course of disease and abnormal discharges had a specific negative correlation with the structural changes.

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Overactivation of poly (ADPribose) polymerases (PARPs) is involved in cancer-induced cachexia. We hypothesized that the PARP inhibitor rucaparib may improve muscle mass and reduce damage in cancer cachexia mice. In mouse diaphragm and gastrocnemius (LP07 lung adenocarcinoma) treated with PARP inhibitor (rucaparib,150 mg/kg body weight/24 h for 20 days) and in non-tumor control animals, body, muscle, and tumor weights; tumor area; limb muscle strength; physical activity; muscle structural abnormalities, damage, and phenotype; PARP activity; and proteolytic and autophagy markers were quantified. In cancer cachexia mice compared to non-cachexia controls, body weight and body weight gain, muscle weight, limb strength, physical activity, and muscle fiber size significantly declined, while levels of PARP activity, plasma troponin I, muscle damage, and proteolytic and autophagy markers increased. Treatment with the PARP inhibitor rucaparib elicited a significant improvement in body weight gain, tumor size and weight, physical activity, muscle damage, troponin I, and proteolytic and autophagy levels. PARP pharmacological inhibition did not exert any significant improvements in muscle weight, fiber size, or limb muscle strength. Treatment with rucaparib, however, improved muscle damage and structural abnormalities and physical activity in cancer cachexia mice. These findings suggest that rucaparib exerts its beneficial effects on cancer cachexia performance through the restoration of muscle structure.

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Background: Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare heritable connective tissue disease with various symptoms. The diagnosis of mcEDS is difficult because of the large overlap of clinical symptoms between different EDS subtypes. Methods: We performed karyotype analysis, gene copy number variation detection, whole-exome sequencing, and Sanger sequencing to reveal the underlying genetic etiology of a fetus with structural abnormalities in feet and kidneys. Results: A likely pathogenic mutation [NM_130468.3 c.958C>T (p.Arg320*)] and an uncertain significance mutation [NM_130468.3 c.896A>G (p.Tyr299Cys)] were identified in the carbohydrate sulfotransferase 14 (CHST14) gene by whole-exome sequencing and validated by Sanger sequencing. Conclusion: The two identified mutations appear highly likely to be the genetic causes of the fetal structural abnormalities.

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Chronic kidney disease (CKD) affects more than 37 million American adults. Adult-onset CKD is typically attributed to acquired comorbidities such as aging, type II diabetes, and cardiovascular disease. Conversely, congenital abnormalities of the kidney and urinary tract are the most common cause of CKD in children. Both adult and pediatric patients with CKD are at risk for neurocognitive dysfunction, particularly in the domain of executive function. The exact mechanism for neurocognitive dysfunction in CKD is not known; however, it is conceivable that the multisystemic effects of CKD-including hypertension, acidosis, anemia, proteinuria, and uremic milieu-exert a detrimental effect on the brain. Quantitative neuroimaging modalities, such as magnetic resonance imaging (MRI), provide a non-invasive way to understand the neurobiological underpinnings of cognitive dysfunction in CKD. Adult patients with CKD show differences in brain structure; however, much less is known about the impact of CKD on neurodevelopment in pediatric patients. Herein, this review will summarize current evidence of the impact of CKD on brain structure and function and will identify the critical areas for future research that are needed to better understand the modifiable risk factors for abnormal brain structure and function across both pediatric and adult CKD populations.

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Purpose: To determine the independent risk factors associated with malignant nonspiculate and noncalcified masses (NSNCMs) and evaluate the predictive values of extratumoral structural abnormalities on digital mammography. Methods: A total of 435 patients were included between January and May 2018. Tumor signs included shape, density, and margin, which were evaluated. Extratumoral signs were classified into extratumoral structural abnormalities (parenchymal and trabecular) and halo; subclassification included contraction, distortion, pushing and atrophy sign of parenchyma, parallel, vertical, and reticular trabecula sign, and narrow and wide halo. Univariate and multivariate analysis was performed. The positive predictive value (PPV) of the independent predictor was calculated, and diagnostic performance was evaluated using the receiver operating characteristic curve. Results: Of all cases, 243 (55.8%) were benign and 192 (44.2%) were malignant. Extratumoral contraction sign of parenchyma was the strongest independent predictor of malignancy (odds ratio [OR] 36.2, p < 0.001; PPV = 96.6%), followed by parenchymal distortion sign (OR 10.2, p < 0.001; PPV = 92%), parallel trabecula sign (OR 7.2, p < 0.001; PPV = 85.6%), and indistinct margin of tumor (OR 4.3, p < 0.001; PPV =70.9%), and also parenchymal atrophy sign, wide halo, vertical trabecula, age ≥ 47.5 years, irregular shape, and size ≥ 22.5 mm of tumor (OR range, 1.3-4.0; PPV range, 56.6-83.6%). The diagnostic performance of most of the extratumoral signs was between that of indistinct margin and irregular shape of tumor. Conclusion: The subclassification of extratumoral structural abnormalities has important predictive value for mammographic malignant NSNCM, which should be given more attention.

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OBJECTIVE: To assess which structural abnormalities on knee MRI are associated with development of osteophytes in middle-aged subjects without radiographic knee osteoarthritis. DESIGN: We included subjects from the Osteoarthritis Initiative, aged 40-55 years, Kellgren & Lawrence grade 0 in both knees, and knee MRIs from both knees available at baseline, 24, 48 and 72 months. Structural exposures on MRI assessed using MOAKS included cartilage damage, bone marrow lesions, meniscal tear, meniscal extrusion, and Hoffa/effusion synovitis. We assessed whether each structural exposure was associated with the development of osteophytes on MRI in the medial and lateral tibiofemoral, and patellofemoral compartment. We estimated hazard ratios (HR) including 95% confidence intervals (CI) for osteophyte development using a mixed complementary log-log regression model adjusted for age, sex, and body mass index. RESULTS: We included 680 knees from 340 subjects with a mean (SD) age of 50 years (3.0), and 51% men. In the medial tibiofemoral compartment, the absolute risk of osteophyte development in the first 24-month period was 4% in knees without, and 15% in knees with medial meniscal tear. Corresponding adjusted HR was 6.6 (95%CI = 3.4-12.9). In the lateral tibiofemoral compartment, the adjusted HR for developing osteophytes having a lateral meniscal tear was 3.3 (95%CI = 1.3-8.4). In the patellofemoral compartment, patellofemoral cartilage damage was most clearly associated with developing osteophytes (HR = 2.6, 95%CI = 1.8-3.7). CONCLUSIONS: Meniscal tear seem to be the strongest structural risk factor for the development of tibiofemoral osteophytes, and patellofemoral cartilage damage for the development of patellofemoral osteophytes, respectively. Local biomechanical factors are important in early osteophyte development.

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Schizophrenia, one of the most common psychiatric disorders, with a worldwide annual incidence rate of approximately 0.3-0.7%, known to affect the population below 25 years of age, is persistent throughout lifetime and includes people from all layers of society. With recent technological progress that allows better imaging techniques, such as the ones provided by computed tomography and particularly magnetic resonance imaging (MRI), research on schizophrenia imaging has grown considerably. The purpose of this review is to establish the importance of using imaging techniques in the early detection of brain abnormalities in patients diagnosed with schizophrenia. We reviewed all articles which reported on MRI imaging in schizophrenia. In order to do this, we used the PubMed database, using as search words 'MRI' and 'schizophrenia'. MRI studies of first episode patients and chronic patients, suggest reduction of the whole brain volume. Enlargement of lateral ventricles was described as positive in 15 studies out of 19 and was similar to findings in chronic patients. Moreover, for the first episode patients, all data collected point to important changes in medial temporal lobe structures, diminished hippocampal volume, the whole frontal lobe, asymmetry in prefrontal cortex, diminished volume in cingulate, corpus callosum, and cavum septum pellucidum reported abnormalities. MRI is recommended as an important tool in the follow-up process of patients with schizophrenia. Yet, it is still under debate whether the abnormalities described in this condition are able to be used as diagnostic biomarkers.

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PURPOSE: The aim of the study was to assess the early retinal structural changes due to hydroxychloroquine (HCQ) use and its impact on visual acuity (VA) of patients with systemic lupus erythematosus (SLE). PATIENTS AND METHODS: The study was conducted as a case-control study that included 60 eyes of 30 SLE patients treated with HCQ compared with 50 eyes of 25 healthy individuals. Patients were kept on 200 or 400 mg as daily maintenance dose. SLE patients were subgrouped into patients with normal VA and patients with decreased VA. All participants were assessed by the optical coherence tomography (OCT), and early structural abnormalities were recorded. The main outcomes and measures were best-corrected VA, drug exposure time, central macular thickness (CMT), inner segment-outer segment (IS-OS) junction disruption, ganglion cell complex † (GCC†, ganglion cell layer + inner plexiform layer), ganglion cell complex †† (GCC††, nerve fiber layer + GCC†), and peripapillary retinal nerve fiber layer. The characteristics of HCQ retinal toxicity were correlated to VA. RESULTS: All OCT parameters were found to be significantly lower (p < 0.001) in HCQ patients with decreased VA than in controls. Patients receiving a daily dose of 400 mg had lower (p < 0.05) parameters than those receiving 200 mg. Patients with IS-OS disruption had lower CMT, GCC †, and GCC †† than those without (p < 0.05). VA was significantly correlated (p < 0.05) with CMT and drug exposure time. CONCLUSIONS: The HCQ use caused OCT changes that precede clinically visible retinopathy and might be associated with slight VA reduction. Screening with OCT of patients receiving HCQ is essential to detect early vision loss.

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