Abnormal Cases Research Articles

Prenatal diagnosis of non-mosaic sex chromosome abnormalities: a 10-year experience from a tertiary referral center.

The aim of this study was to explore the frequency and profile of non-mosaic sex chromosome abnormalities detected in prenatal diagnosis over the past 10 years. We retrospectively reviewed pregnancies diagnosed with non-mosaic sex chromosome abnormalities between January 2012 and December 2021, using karyotyping and/or single nucleotide polymorphism (SNP) array. Maternal age, indications for testing, and outcomes were recorded. Traditional karyotyping identified 269 (0.90 %) cases of non-mosaic sex chromosome abnormalities among 29,832 fetuses, including 249 cases of numerical abnormalities, 15 unbalanced structural abnormalities, and 5 balanced structural abnormalities. The overall detection rate of common sex chromosome aneuploidies (SCAs) was 0.81 %, with 47,XXY, 47,XXX, 47,XYY, and 45,X accounting for 0.32 , 0.19, 0.17, and 0.13 % respectively. All showed a fluctuating upward trend over the study period, except for 45,X. During the first five years (2012-2016), the major indication for testing was advanced maternal age (AMA), followed by abnormal ultrasound, abnormal noninvasive prenatal testing (NIPT), and abnormal maternal serum screening (MSS). In the second five years (2017-2021), the most frequent indication was abnormal NIPT, followed by AMA, abnormal ultrasound, and abnormal MSS. Among the 7,780 cases that underwent SNP array in parallel, an additional 29 clinically significant aberrations were detected. The most frequent aberration was a microdeletion in the Xp22.31 region, which was associated with X-linked ichthyosis. Fetal sex chromosome abnormalities are important findings in prenatal diagnosis. The application of NIPT and SNP array technology has greatly improved the detection of SCAs and submicroscopic aberrations associated with sex chromosomes.

Understanding the Constraints and Optimization of Serum Immunofixation Electrophoresis and Serum Free Light Chains for Detecting Monoclonal Proteins: A Single-Center Experience.

Introduction Serum immunofixation electrophoresis (SIFE) and serum free light chain (SFLC) assay are imperative investigations in diagnosis and follow-up of multiple myeloma (MM). SFLC assays are reported to have higher sensitivity than SIFE. However, discrepancies have been reported between them. The current study was aimed at assessing concordance and discordance between SIFE and SFLC results in MM. Methods A total of 450 observations of both SIFE and SFLC were obtained from treatment-naive and follow-up MM patients. Results One hundred and twenty-nine (28.7%) values were observed as discordant, that is, positive SIFE with normal SFLC ratio or negative SIFE with abnormal SFLC ratio ( p -value < 0.00001). Proportion of discordance was higher in SIFE positive-SFLC normal cases than SIFE negative-SFLC abnormal cases. Discordance was more frequent in follow-up cases. Conclusion Negative SFLC alone may not be reliable for MM follow-up. Algorithm may be based on SFLC measurements on each follow-up till attainment of normal SFLC ratio. Once SFLC normalizes, follow-up may be done with SIFE. If SIFE is positive, further follow-up with SIFE may be initiated.

Hybrid Attention and Motion Constraint for Anomaly Detection in Crowded Scenes

Crowds often appear in surveillance videos in public places, from which anomaly detection is of great importance to public safety. Since the abnormal cases are rare, variable and unpredictable, autoencoders with encoder and decoder structures using only normal samples have become a hot topic among various approaches for anomaly detection. However, since autoencoders have excessive generalization ability, they can sometimes still reconstruct abnormal cases very well. Recently, some researchers construct memory modules under normal conditions and use these normal memory items to reconstruct test samples during inference to increase the reconstruction errors for anomalies. However, in practice, the errors of reconstructing normal samples with the memory items often increase as well, which makes it still difficult to distinguish between normal and abnormal cases. In addition, the memory-based autoencoder is usually available only in the specific scene where the memory module is constructed and almost loses the prospect of cross-scene applications. We mitigate the overgeneralization of autoencoders from a different perspective, namely, by reducing the prediction errors for normal cases rather than increasing the prediction errors for abnormal cases. To this end, we propose an autoencoder based on hybrid attention and motion constraint for anomaly detection. The hybrid attention includes the channel attention used in the encoding process and spatial attention added to the skip connection between the encoder and decoder. The hybrid attention is introduced to reduce the weight of the feature channels and regions representing the background in the feature matrix, which makes the autoencoder features more focused on optimizing the representation of the normal targets during training. Furthermore, we introduce motion constraint to improve the autoencoder’s ability to predict normal activities in crowded scenes. We conduct experiments on real-world surveillance videos, UCSD, CUHK Avenue, and ShanghaiTech datasets. The experimental results indicate that the prediction errors of the proposed method for frequent normal crowd activities are smaller than those of other approaches, which increases the gap between the prediction errors for normal frames and the prediction errors for abnormal frames. In addition, the proposed method does not depend on a specific scene. Therefore, it balances good anomaly detection performance and strong cross-scene capability.

Chromosomal Microarray Analysis in Pregnancy Loss: Is It Time for a Consensus Approach?

ABSTRACT Affecting up to 10% to 15% of all clinically recognized pregnancies, pregnancy loss has many causes. Half of first-trimester losses come about due to chromosomal abnormalities and then decline in frequency through pregnancy, ultimately reaching a rate of 5% in stillbirths. Recurrent pregnancy loss occurs in 1% to 2% of couples, and identifying the genetic etiology of these losses can provide psychological benefits, eliminate other testing needs, and establish a risk of recurrence. As benefits of performing genetic testing on products of conception (POCs) are clear, various groups have published practice guidelines (American College of Obstetricians and Gynecologists, European Society of Human Reproduction and Embryology, American Society for Reproductive Medicine, and Royal College of Obstetricians and Gynaecologists). However, despite the consensus for the utility of testing on POCs, requirements for these tests vary. Most appropriate testing methodology, obstetric history, and gestational age are all variations that affect the benefit or utility of these tests. As there is a lack of consensus on how to use chromosomal microarray analysis (CMA) in assessment of POCs, this study assessed POC CMA data with available karyotype data and determined the positive CMA rate for POCs. The authors also included within this data set a comprehensive correlation of CMA correlations with pregnancy phenotype, gestational age, and prior prenatal screening results. Finally, the study also assessed the impact CMA results from early losses may have on clinical care. This cohort included 323 POC samples processed by the Brigham and Women's Hospital Center for Advanced Molecular Diagnostics in the Clinical Cytogenetics Laboratory over a consecutive 42-month period. Collected variables included estimated gestational age at time of pregnancy loss, maternal age, pregnancy phenotype results of any orthogonal testing on POC tissue, noninvasive prenatal screen results, CMA findings, and available parental karyotypes. All cases recorded gestational age except 1 sample lacking documentation. Categories of phenotypic data included lymphatic malformations, anatomical abnormalities of the fetus or placenta, twin or higher-level multiple gestations, environmental complications, amniotic fluid disorders, or the combined influence of any of the above. A lack of definitive phenotypic data excluded 3 cases from the analysis. Analyses of CMA results were categorized as normal, abnormal, or variants of uncertain significance (VUSs). The cases defined as normal had no identifiable clinically significant copy number variants, and abnormal cases were defined as pathogenic. Results of the study included gestational age for 322 of 323 cases, which was then used to determine the rate of fetal demise or miscarriage at different gestational ages in the cohort, with first-trimester losses at &lt;14 weeks (n = 230) and later losses defined as occurring at &gt;14 weeks gestational age (n = 92). The results demonstrated that frequency and genetic abnormality types (as identified by CMA) align closely with karyotype studies previously published. This means that an approximate half of the first-trimester loss cohort have a genetic abnormality, with trisomies as the most common finding. Very early losses tend to have a high positive rate of abnormalities (45.6%), which further supported CMA use in first-trimester losses. Inadvertent assessment and reporting of maternal metaphases were reduced, and yield of results improved with the implementation of CMA. Abnormal POC results may suggest balanced parental abnormalities, and follow-up parental testing in such cases is recommended. A need for additional studies exists to determine the parental follow-up studies yield. In conclusion, POC tissue genetic testing following pregnancy loss can aid in clinical management via identification of genetic etiologies, thereby refining recurrence risk. However, lack of consensus in terms of testing strategies and methodologies indicates a need for standardized methodology. This study demonstrated CMA results consistent with published karyotype studies established CMA analysis advantages over POC karyotype in all gestational ages. Even in early first-trimester losses, these results support the efficacy of CMA in POC testing.

Progressive collapse and soil stress analyses of Manupali steel truss bridge in Lantapan, Bukidnon under hydraulic and traffic threats

Bridges designed to comply with current design codes may not provide enough strength to arrest a possible local failure following an abnormal event, thus leading to a progressive collapse. One may employ different approaches that vary according to linearity and dynamicity to analyze the potential of a structure to progressive collapse. Together with a prior risk assessment, this study analyzed the susceptibility of the Manupali steel truss bridge to progressive collapse using an adapted nonlinear static approach and assessed the bridge’s pile foundation capacity concerning changes in the imposed stresses caused by the dynamic effects of progressive collapse. Using P-Delta analysis in STAAD.Pro CONNECT Edition V22, this study determined that under its self-weight, the Manupali steel truss bridge is susceptible to progressive collapse, i.e., it is fracture critical. Nonetheless, being such does not mean the bridge is inherently unsafe, only that it lacks redundancy in the design. Furthermore, this study found that a collapse does not significantly detrimentally affect the foundation system except when the dynamic effect is so tremendous. With the results, this study recommends that the design of bridges should consider abnormal load cases to mitigate progressive collapse.

Cases of Abnormality of Horse Hooves (Equus caballus) In Santosa Stable Kendal-Central Java

Background: Horse hoof abnormalities are one of the most frequent disorders in horses and the leading causes affecting the productivity of horses. Purpose: Explanation of the percentage of abnormalities of Andalusian, Warmblood, and Generasi horses in Santosa Stable. Method: Qualitative methods in this study used a qualitative research approach case study. Results: Hoof abnormalities occurred in 6 horses (1 stallion and 1 Andalusian mare, 1 Warmblood mare, 2 G4 stallions, and 1 G3 horse). Cases of hoof crack (31.25%) and hoof rings (12.5%). Conclusion: Hoof crack is the most common abnormality found in horses in Santosa Stable

The Association between Metabolic Syndrome and Epithelial Cell Abnormalities Detected on Pap Smear: A Nationwide Population-Based Study.

Several epidemiologic studies have suggested the correlation between metabolic syndrome (MetS) and cervical cancer. The identification of epithelial cell abnormalities through cervical cytology implies lesions that may lead to cervical cancer in the long term, making screening a crucial measure for its prevention. We conducted a case-control study using data from the National Health Screening Programs under the Health Insurance System of South Korea between 2009 and 2017. Among women who underwent a Pap smear during this period, 8,606,394 tests reported negative results for epithelial cell abnormalities (controls, 93.7%), while 580,012 tests reported epithelial cell abnormalities (cases, 6.3%). Of these, the incidence of MetS was significantly higher in the case group, with 21.7% of cases and 18.4% of controls meeting the MetS criteria with p-Value of less than 0.0001; however, the effect size was small with odds ratio of 1.23. Logistic regression analysis revealed increased odds of epithelial cell abnormalities in women with MetS after adjusting for associated risk factors (AOR 1.202, 95% CI 1.195-1.210, p < 0.0001). These findings indicate that women with MetS have an elevated risk of developing epithelial cell abnormalities, reinforcing the importance of regular Pap smear screening to prevent cervical cancer progression in this population.

Pediatric fulminant malignant hyperthermia with severe electroencephalographic abnormality and brain damage: a case report

BackgroundMalignant hyperthermia is an extremely dangerous condition that can occur with exposure to volatile inhalant anesthetics and depolarizing muscle relaxants, and that requires immediate intervention. Neurological complications have rarely been reported, with no reports of electroencephalographic abnormalities or encephalopathy. Here, we report a case of severe electroencephalographic abnormality in the acute phase of malignant hyperthermia that eventually led to diffuse cerebral cortical damage.Case presentationA 15-month-old Japanese boy underwent a Rastelli procedure to correct a double-outlet right ventricle and pulmonary atresia. Sevoflurane was used for induction and maintenance of anesthesia during surgery. After withdrawal from the heart–lung machine, his body temperature rose at a rate of 0.1 ℃/minute, and when he left the operating room, his core body temperature had reached 42 ℃. After admission to the intensive care unit, tachycardia, high PaCO2, and progressive metabolic acidosis were observed. A clinical grading scale score of 63 indicated malignant hyperthermia, and dantrolene was administered. The pupils were dilated, and the electroencephalogram showed persistent generalized continuous multifocal spikes. Midazolam, levetiracetam, and fosphenytoin were administered without improvement, and thiamylal and ketamine were infused continuously. After the electroencephalogram shifted to burst suppression, the epileptic firing gradually decreased, and the background electroencephalogram became lower in amplitude. Magnetic resonance imaging of the head performed after the patient was hemodynamically stable suggested diffuse cerebral cortical damage. Severe mental retardation, hypertonia, and quadriplegia were observed as neurological complications.ConclusionsIn this case, despite the use of high-dose anticonvulsants, the patient showed severe electroencephalogram abnormality, resulting in diffuse cortical damage. Hyperthermia is known to damage the central nervous system by causing increased brain pressure and cerebral edema, which may have triggered the severe neuronal excitation that we observed in this case. The presence of systemic inflammatory response syndrome and the patient’s background, including young age and ethnicity, might also have been factors. Malignant hyperthermia can be complicated by encephalopathy, and continuous electroencephalogram monitoring should be considered.

Improving the Accuracy and Efficiency of Abnormal Cervical Squamous Cell Detection With Cytologist-in-the-Loop Artificial Intelligence

Population-based cervical cytology screening techniques are demanding and laborious and have relatively poor diagnostic accuracy. In this study, we present a cytologist-in-the-loop artificial intelligence (CITL-AI) system to improve the accuracy and efficiency of abnormal cervical squamous cell detection in cervical cancer screening. The artificial intelligence (AI) system was developed using 8000 digitalized whole slide images, including 5713 negative and 2287 positive cases. External validation was performed using an independent, multicenter, real-world data set of 3514 women, who were screened for cervical cancer between 2021 and 2022. Each slide was assessed using the AI system, which generated risk scores. These scores were then used to optimize the triaging of true negative cases. The remaining slides were interpreted by cytologists who had varying degrees of experience and were categorized as either junior or senior specialists. Stand-alone AI had a sensitivity of 89.4% and a specificity of 66.4%. These data points were used to establish the lowest AI-based risk score (ie, 0.35) to optimize the triage configuration. A total of 1319 slides were triaged without missing any abnormal squamous cases. This also reduced the cytology workload by 37.5%. Reader analysis found CITL-AI had superior sensitivity and specificity compared with junior cytologists (81.6% vs 53.1% and 78.9% vs 66.2%, respectively; both with P < .001). For senior cytologists, CITL-AI specificity increased slightly from 89.9% to 91.5% (P = .029); however, sensitivity did not significantly increase (P = .450). Therefore, CITL-AI could reduce cytologists’ workload by more than one-third while simultaneously improving diagnostic accuracy, especially compared with less experienced cytologists. This approach could improve the accuracy and efficiency of abnormal cervical squamous cell detection in cervical cancer screening programs worldwide.

Analysis of genetic etiology and related factors in 1 065 women with spontaneous abortions

To explore the genetic etiology and related factors in 1 065 women with spontaneous abortions. All patients have presented at the Center of Prenatal Diagnosis of Nanjing Drum Tower Hospital from January 2018 to December 2021. Chorionic villi and fetal skin samples were collected, and the genomic DNA was assayed by chromosomal microarray analysis (CMA). For 10 couples with recurrent spontaneous abortions but normal CMA results for abortive tissues, non-in vitro fertilization-embryo transfer (IVF-ET) pregnancies and no previous history of live births and no structural abnormalities of the uterus, peripheral venous blood samples were collected. Genomic DNA was subjected to trio-whole exome sequencing (trio-WES). Candidate variants were verified by Sanger sequencing and bioinformatics analysis. Multifactorial unconditional logistic regression analysis was carried out to analyze the factors that may affect chromosomal abnormality in spontaneous abortions, such as the age of the couple, number of previous spontaneous abortions, IVF-ET pregnancy and history of live birth. The incidence of chromosomal aneuploidies in spontaneous abortions during the first trimester was compared in young or advanced-aged patients by chi-square test for liner trend. Among the 1 065 spontaneous abortion patients, 570 cases (53.5%) of chromosomal abnormalities were detected in spontaneous abortion tissues, which included 489 cases (45.9%) of chromosomal aneuploidies and 36 cases (3.4%) of pathogenic/likely pathogenic copy number variations (CNVs). Trio-WES results have revealed one homozygote variant and one compound heterozygote variants in two pedigrees, both of which were inherited from the parents. One likely pathogenic variant was detected in the patient from two pedigrees. Multifactorial unconditional Logistic regression analysis suggested that age of patient was an independent risk factor of chromosome abnormalities (OR = 1.122, 95%CI: 1.069-1.177, P < 0.001), the number of previous abortions and IVF-ET pregnancy were independent protective factors for chromosomal abnormalities (OR = 0.791, 0.648; 95%CI: 0.682-0.916, 0.500-0.840; P = 0.002, 0.001), whilst the age of husband and history of live birth were not (P > 0.05). The incidence of aneuploidies in the abortive tissues has decreased with the number of previous spontaneous abortions in young patients (χ² = 18.051, P < 0.001), but was not significantly correlated with the number of previous spontaneous abortions in advanced-aged patients with spontaneous abortions (P > 0.05). Chromosomal aneuploidy is the main genetic factor for spontaneous abortion, though CNVs and genetic variants may also underlie its genetic etiology. The age of patients, number of previous abortions and IVF-ET pregnancy are closely associated with chromosome abnormalities in abortive tissues.

Anxiety and depression in maintenance hemodialysis patients: prevalence and their effects on health-related quality of life

PurposeThe aims of the study are to explore the prevalence and risk factors of anxiety and depression in hemodialysis (HD) patients and to study their relationship with quality of life (QOL).MethodsThis cross-sectional study involved 298 HD patients. Sociodemographic, clinical, and laboratory data of the patients were obtained from their records. Anxiety and depression were assessed by utilizing Hospital Anxiety and Depression Scale (HADS). In addition, QOL of the patients were evaluated by fulfilling the Kidney Disease Quality of Life-36.ResultsThis study included 298 HD patients (male 59.1%) with a median age of 49 years. Abnormal and borderline cases of anxiety were recognized in 49.6%, 26.2% of the patients, respectively, while depression cases and borderline cases were identified in 55 and 28.2% of the patients, respectively. Percentages of females (41 and 48% vs 26.4%, respectively), and patients who were not working (92.3 and 93.9% vs 72.2%, respectively) increased significantly in borderline and abnormal anxiety groups. Patients who did not work, led an inactive lifestyle, and smoked had considerably greater percentages in the borderline and abnormal HADS-depression categories than normal patients. Abnormal cases of depression and anxiety had significantly longer duration of HD than other two groups. Abnormal and borderline cases of anxiety and depression had worse QOL components than the normal patients.ConclusionAnxiety and depression are prevalent among HD patients in Egypt, and several sociodemographic and clinical risk factors are associated. In addition, these mental disorders are associated with poor QOL.

Reply to Vaidya, Guhe, and Williams on the Bloomsbury Translation of the Tattva-cintā-maṇi of Gaṅgeśa

Reply to Vaidya, Guhe, and Williams on the Bloomsbury Translation of the Tattva-cintā-maṇi of Gaṅgeśa Stephen Phillips (bio) More or less happy with the reviews, I would like mainly, in response, to identify advances made in the study of Gaṅgeśa. Anand Vaidya articulates a clearer overview of Gaṅgeśa's theory of knowledge; Eberhard Guhe shows a better way to render the notion of vyāpti, "pervasion," which is central in the theory of inference as a knowledge source; and Michael Williams, too, shows need for improvement on that score as well as for elaboration of matters taken up by classical commentators that are given short shrift in my running comments. For example, whereas long discussions are provoked by Gaṅgeśa's definition of "knowledge," pramā, major points in the purvapakṣa in the section on proving the existence of an īśvara, a "Lord," seem, as Williams says, "threadbare." Vaidya, following Burge (2003), introduces a distinction between entitlement and justification: entitlement is the kind of unreflective epistemic warrant delivered by Gaṅgeśa's pramāṇa, "knowledge sources," working automatically in our everyday lives, whereas justification requires self-conscious certification, prāmāṇya-jñapti. Thereby splitting the horns of a dilemma posed by internalist accounts of knowledge in opposition to externalist ones, Burge and Vaidya are able to incorporate the most [End Page 519] attractive features of each approach. The entitlement/justification distinction cashes out, I may add, to Vaidya's elucidation, Nyāya's deeply held doctrine of parataḥ-prāmāṇya, "certification by another," against the view of "intrinsic certification," svataḥ-prāmāṇya, of Prabhākara and others. As Williams notes, Prābhākara positions, for which Gaṅgeśa sometimes shows sympathy, may have led him to presume that an anubhava—"awareness" or "presentational experience" in my translation, "fresh news" in Matilal's snappy rendering—is an episode of knowledge, pramā, "unless one knows otherwise," bādhakam vinā. On reflection, one sees that such a presentation (it could be perceptual, inferential, analogical, or testimonial) has been produced by a pramāṇa, or, in abnormal cases, not, and so by a "pramāṇa-pretender," a pramāṇaābhāsa, as in seeing a mirage. Again, an anubhava is not just any old cognition or "thought" (pace Das 2021, p. 162); it is defined as nonrecollective. Unlike a deliverance of a genuine pramāṇa, some instances may, on examination, prove to be a-pramā, "non-knowledge," but are, nevertheless, at the animal level, sufficient to provoke and guide action that would not be unhesitating were there doubt in any way. A thirsty Maya, in Vaidya's example, would naturally move in the direction of the water she "sees." But she would hesitate were she to learn from her friend about the unreliability of water-perception in the current circumstances. At the reflective level, where she is unsure whether the anubhava she apperceives is pramā or apramā, her action, including speech (implying assertability), is altered. So far so good in Vaidya's reconstruction. But Gaṅgeśa does not himself pronounce on the question of whether, after learning about the defeater, Maya would still be entitled to her perceptual belief that there is water in the distance. In the volumes under review, I assumed that she would not be "justified" and indeed that she would no longer have the belief (if we may speak about "beliefs"). The defeater grasped at the reflective level would mean not only that she could not certify the perceptual deliverance but also that there would be no knowledge. Clearly, she can't certify it, and thus, as Vaidya reasons, loses the right to assert. But maybe he's correct that, according to Gaṅgeśa's sensibilities, she does not lose the perceptual knowledge. She would remain entitled to her belief. Personally, I think this is wrong, but Vaidya's understanding does have the merit of explaining why some later Naiyāyikas apparently took absurd positions on epistemic luck (Bhattacharya 1996, p. ix). I think that Maya would lose her entitlement, too, but what if, after being informed of the unreliability of water-perception...

‘Still travelling’: Access to abortion post-12 weeks gestation in Ireland

This article focuses on access to abortion in Ireland post-12 weeks gestational age. It critically examines abortion access under the legislative sections 9, 10 and 11 of the Health (Regulation of Termination of Pregnancy) Act 2018, the Multi-Disciplinary Team (MDT) process, as well as the appeals process in place. We highlight existing ambiguities in diagnosing and certifying cases of risk to health during pregnancy, particularly mental health, as well as the challenges in diagnosing and certifying cases of fatal fetal abnormality (FFA). The article incorporates service users' experiences in obtaining abortion in Ireland post-12 weeks, particularly in cases of FFA, and includes recommendations for policy and legislative change.

Calibration of the Becton Dickinson FocalPoint GS slide profiler is essential for optimal performance: Avoiding the algorithm supersaturation cascade effect pitfall.

The MAVARIC study supported the use of the FocalPoint GS (FPGS) imaging system "No Further Review" (NFR) technology for cervical screening and recommended further investigation. A validation study (Nuttall etal.) was performed by Cervical Screening Wales before implementing the NFR slide reporting technology within the cervical screening program in Wales, United Kingdom. A total of 45,317 SurePath liquid-based cytology cervical screening samples were submitted for FPGS scanning within four Welsh cytology laboratories between 2006 and 2011. The study, Computer Assisted Evaluation, Screening and Reporting, involved scanning the slides using the FPGS and comparing the results with manual screening performed under established Cervical Screening Wales protocols. An increased number of abnormal cases presented in the NFR reporting category, significantly greater than that previously encountered. This anomaly resulted in higher false-negative rates with potentially life-changing consequences for the screening participant. Subsequent investigation determined that this increase in cases created an algorithm cascade or "sump" effect, which resulted in an unprecedented increased number of samples categorized as NFR. This exceeded the calibration parameters set for the FPGS and was thought to be caused by an increase in the number of younger women attending for screening following the death of a young reality television celebrity from cervical cancer. Adequate and timely calibration of FPGS technology is vital for quality assurance of the results produced, particularly following events that may impact on cervical precancer incidence rates. Failure to do so can result in potentially catastrophic screening incidents that are avoidable.

Acupuncture and Chinese herbal medicine for menopausal mood disorder: a randomized controlled trial

Objective This study aimed to analyze the effectiveness of acupuncture combined with Chinese herbal medicine (CHM) on mood disorder symptoms for menopausal women. Methods A total of 95 qualified Chinese participants were randomly assigned to one of three groups: 31 in the acupuncture combined with CHM group (combined group), 32 in the acupuncture combined with CHM placebo group (acupuncture group) and 32 in the CHM combined with sham acupuncture group (CHM group). The patients were treated for 8 weeks and followed up for 4 weeks. The data were collected using the Greene Climacteric Scale (GCS), self-rating depression scale (SDS), self-rating anxiety scale (SAS) and safety index. Results The three groups each showed significant decreases in the GCS, SDS and SAS after treatment (p < 0.05). Furthermore, the effect on the GCS total score and the anxiety domain lasted until the follow-up period in the combined group (p < 0.05). Within the three groups, there was no difference in GCS and SAS between the three groups after treatment (p > 0.05). However, the combined group showed significant improvement in the SDS, compared with both the acupuncture group and the CHM group at 8 weeks and 12 weeks (p < 0.05). No obvious abnormal cases were found in any of the safety indexes. Conclusions The results suggest that either acupuncture, or CHM or combined therapy offer safe improvement of mood disorder symptoms for menopausal women. However, the combination therapy was associated with more stable effects in the follow-up period and a superior effect on improving depression symptoms.

Deep learning model for prenatal congenital heart disease (CHD) screening generalizes to the community setting and outperforms clinical detection.

Congenital heart defects (CHD) are still missed despite nearly universal prenatal ultrasound screening programs, which may result in severe morbidity or even death. Deep machine learning (DL) can automate image recognition from ultrasound. The aim of this study was to apply a previously developed DL model trained on images from a tertiary center, to fetal ultrasound images obtained during the second-trimester standard anomaly scan in a low-risk population. All pregnancies with isolated severe CHD in the Northwestern region of the Netherlands between 2015 and 2016 with available stored images were evaluated, as well as a sample of normal fetuses' examinations from the same region. We compared initial clinical diagnostic accuracy (made in real time), model accuracy, and performance of blinded human experts with access only to the stored images (like the model). We analyzed performance by study characteristics such as duration, quality (independently scored by study investigators), number of stored images, and availability of screening views. A total of 42 normal fetuses and 66 cases of isolated CHD at birth were analyzed. Of the abnormal cases, 31 were missed and 35 were detected at the time of the clinical anatomy scan (sensitivity 53 percent). Model sensitivity and specificity was 91 and 93 percent, respectively. Blinded human experts (n=3) achieved sensitivity and specificity of 55±10 percent (range 47-67 percent) and 71±13 percent (range 57-83 percent), respectively. There was a statistically significant difference in model correctness by expert-grader quality score (p=0.04). Abnormal cases included 19 lesions the model had not encountered in its training; the model's performance (15/19 correct) was not statistically significantly different on previously encountered vs. never before seen lesions (p=0.07). A previously trained DL algorithm out-performed human experts in detecting CHD in a cohort in which over 50 percent of CHD cases were initially missed clinically. Notably, the DL algorithm performed well on community-acquired images in a low-risk population, including lesions it had not been previously exposed to. Furthermore, when both the model and blinded human experts had access to stored images alone, the model outperformed expert humans. Together, these findings support the proposition that use of DL models can improve prenatal detection of CHD.

Weakly supervised breast lesion detection in DCE-MRI using self-transfer learning.

Breast cancer is a typically diagnosed and life-threatening cancer in women. Thus, dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) is increasingly used for breast lesion detection and diagnosis because of the high resolution of soft tissues. Moreover, supervised detection methods have been implemented for breast lesion detection. However, these methods require substantial time and specialized staff to develop the labeled training samples. To investigate the potential of weakly supervised deep learning models for breast lesion detection. A total of 1003 breast DCE-MRI studies were collected, including 603 abnormal cases with 770 breast lesions and 400 normal subjects. The proposed model was trained using breast DCE-MRI considering only the image-level labels (normal and abnormal) and optimized for classification and detection sub-tasks simultaneously. Ablation experiments were performed to evaluate different convolutional neural network (CNN) backbones (VGG19 and ResNet50) as shared convolutional layers, as well as to evaluate the effect of the preprocessing methods. Our weakly supervised model performed better with VGG19 than with ResNet50 (p < 0.05). The average precision (AP) of the classification sub-task was 91.7% for abnormal cases and 88.0% for normal samples. The area under the receiver operating characteristic (ROC) curve (AUC) was 0.939 (95% confidence interval [CI]: 0.920-0.941). The weakly supervised detection task AP was 85.7%, and the correct location (CorLoc) was 90.2%. A sensitivity of 84.0% at two-false positives per image was assessed based on free-response ROC (FROC) curve. The results confirm that a weakly supervised CNN based on self-transfer learning is an effective and promising auxiliary tool for detecting breast lesions.

Period prevalence of antenatally diagnosed congenital abnormalities, Single center study from Saudi Arabia

Objective: To find out the period prevalence of congenital malformation diagnosed in security forces hospital – Riyadh –kingdom of Saudi Arabia, during the study period from Jan 2012 till Dec 2014 and the possible associated risk factors. Method: This is a retrospective chart review of all pregnant ladies who were following at security forces hospital – Riyadh – in the period between Jan 2012 till Dec 2014 in whom congenital abnormalities were diagnosed by ultrasound.Results: Out of 18748 scans done for 9374 patient during the study period, 283 cases of congenital abnormalities were diagnosed, which gives a period prevalence of 3.02%. The majority -around 70% of these anomalies- involved one body system; out of them 31% were renal anomalies. Conclusion: The period prevalence of congenital abnormalities in our study group is similar to that seen in other population worldwide. Strikingly enough, consanguinity in our population appears to play a major associated risk factor.

Analysis on characteristic of stage Ⅰ occupational cement pneumoconiosis patients

Objective: To analyze the clinical and imaging characteristics of stage Ⅰ occupational cement pneumoconiosis patients. Methods: In October 2021, the data of patients with occupational cement pneumoconiosis diagnosed by the Third Hospital of Peking University from 2014 to 2020 were collected, and the data of the patients' initial exposure age, dust exposure duration, diagnosis age, incubation period, chest X-ray findings, lung function and other data were analyzed retrospectively. Spearman grade correlation was used for correlation analysis of grade count data. The influencing factors of lung function were analyzed by binary logistic regression. Results: A total of 107 patients were enrolled in the study. There were 80 male patients and 27 female patients. The inital exposure age was (26.2±7.7) years, the diagnosis age was (59.4±7.9) years, the dust exposure duration was (17.9±8.0) years, and the incubation period was (33.1±10.3) years. The initial dust exposure age and the dust exposure duration in female patients were less than those in men, and the incubation period was longer than that in men (P<0.05). The imaging analysis showed the small opacities as"pp"accounted for 54.2%. 82 patients (76.6%) had small opacities distributed in two lung areas. The lung areas distribution of small opacities in female patients was less than that in male patients (2.04±0.19 vs 2.41±0.69, P<0.001). There were 57 cases of normal pulmonary function, 41 cases of mild abnormality and 9 cases of moderate abnormality. The number of lung regions with small opacities on X-ray was the risk factor for abnormal lung function in cement pneumoconiosis patients (OR=2.491, 95%CI=1.197-5.183, P=0.015) . Conclusion: The patients with occupational cement pneumoconiosis had long dust exposure duration and incubation period, light imaging changes and pulmonary function damage. The abnormal lung function was related to the range of pulmonary involvement.

Detection rates of abnormalities in over 10,000 amniotic fluid samples at a single laboratory

BackgroundA growing number of cytogenetic techniques have been used for prenatal diagnosis. This study aimed to demonstrate the usefulness of karyotyping, BACs-on-Beads (BoBs) assay and single nucleotide polymorphism (SNP) array in prenatal diagnosis during the second trimester based on our laboratory experience.MethodsA total of 10,580 pregnant women with a variety of indications for amniocentesis were enrolled in this retrospective study between January 2015 and December 2020, of whom amniotic fluid samples were analysed in 10,320 women. The main technical indicators of participants in the three different technologies were summarized, and cases of chromosome abnormalities were further evaluated.ResultsThe overall abnormality detection rate of karyotyping among all the amniotic fluid samples was 15.4%, and trisomy 21 was the most common abnormality (20.9%). The total abnormality detection rate of the BoBs assay was 5.6%, and the diagnosis rate of microdeletion/microduplication syndromes that were not identified by karyotyping was 0.2%. The detection results of the BoBs assay were 100.0% concordant with karyotyping analysis in common aneuploidies. Seventy (87.5%) cases of structural abnormalities were missed by BoBs assay. The total abnormality detection rate of the SNP array was 21.6%. The detection results of common aneuploidies were exactly the same between SNP array and karyotyping. Overall, 60.1% of structural abnormalities were missed by SNP array. The further detection rate of pathogenic significant copy number variations (CNVs) by SNP was 1.4%.ConclusionsKaryotyping analysis combined with BoBs assay or SNP array for prenatal diagnosis could provide quick and accurate results. Combined use of the technologies, especially with SNP array, improved the diagnostic yield and interpretation of the results, which contributes to genetic counselling. BoBs assay or SNP array could be a useful supplement to karyotyping.