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1.
Epilepsy Res ; 205: 107418, 2024 Jul 13.
Article in English | MEDLINE | ID: mdl-39003967

ABSTRACT

OBJECTIVES: Hot water epilepsy (HWE) is a type of epilepsy that primarily affects children. This study was aimed to evaluate the clinical, electroencephalogram (EEG), neuroimaging findings, and treatment options in children with HWE. METHODS: The medical records of 24 patients who had HWE were evaluated retrospectively. RESULTS: There were 2767 patients diagnosed with epilepsy during the seven-year period, and 0.86 % of the patients had HWE. The median age of the patients was three (range 1.2-7 years), with a male predominance (male/female ratio: 7.1). Six patients (25 %) had HWE with spontaneous seizures (HWESS) and 18 patients (75 %) had HWE alone (HWEA). 11 patients had focal onset seizures, 13 patients had generalized onset seizures. EEG abnormalities were found in 7 patients (29.2 %). Three patients (12.5 %) had nonspecific MRI findings. Developmental abnormalities (autism spectrum disorder, learning disability and speech disturbance.) were detected in 8 patients (33.3 %). Only one patient's (4.2 %) seizure could be controlled by changing bathroom habits. Twenty-three patients (95.8 %) were given antiepileptic drugs. 18 of 24 patients had come for follow-up visits for two years, nine of them used monotherapy and seizures did not recur. The treatment response was 55.5 %. Oxcarbazepine (8 patients, 33.3 %) and valproic acid (7 patients, 29.2 %) were the most chosen two drugs for HWE. The genetic tests performed were not accepted relevant to the patients' clinical conditions and epilepsy. CONCLUSION: The frequency of the HWE was not as high in the literature. Male predominance, EEG abnormalities may be seen. Changing bath room habits did not improve the treatment as a first line management, all the patients except one used antiepileptic drug treatment. Until now, there has been no study in Turkey showing the frequency of HWE exclusively in children.

2.
Exp Eye Res ; 245: 109988, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38964496

ABSTRACT

Autism spectrum disorder (ASD) is a group of neurodevelopment disorders characterized by deficits in social interaction and communication, and repetitive or stereotyped behavior. Autistic children are more likely to have vision problems, and ASD is unusually common among blind people. However, the mechanisms behind the vision disorders in autism are unclear. Stabilizing WNT-targeted scaffold protein Axin2 by XAV939 during embryonic development causes overproduction of cortical neurons and leads to autistic-like behaviors in mice. In this study, we investigated the relationship between vision abnormality and autism using an XAV939-induced mouse model of autism. We found that the mice receiving XAV939 had decreased amplitude of bright light-adaptive ERG. The amplitudes and latency of flash visual evoked potential recorded from XAV939-treated mice were lower and longer, respectively than in the control mice, suggesting that XAV939 inhibits visual signal processing and conductance. Anatomically, the diameters of RGC axons were reduced when Axin2 was stabilized during the development, and the optic fibers had defective myelin sheaths and reduced oligodendrocytes. The results suggest that the WNT signaling pathway is crucial for optic nerve development. This study provides experimental evidence that conditions interfering with brain development may also lead to visual problems, which in turn might exaggerate the autistic features in humans.


Subject(s)
Axin Protein , Disease Models, Animal , Evoked Potentials, Visual , Optic Nerve , Animals , Axin Protein/metabolism , Mice , Evoked Potentials, Visual/physiology , Optic Nerve/metabolism , Optic Nerve/pathology , Electroretinography , Mice, Inbred C57BL , Axons/pathology , Retinal Ganglion Cells/pathology , Retinal Ganglion Cells/metabolism , Male , Wnt Signaling Pathway/physiology , Autism Spectrum Disorder/physiopathology , Autism Spectrum Disorder/metabolism , Autistic Disorder/physiopathology , Autistic Disorder/metabolism
3.
J Microsc Ultrastruct ; 12(2): 81-90, 2024.
Article in English | MEDLINE | ID: mdl-39006040

ABSTRACT

Background: Guanidinoacetate methyltransferase deficiency (GAMT) is an autosomal recessive inborn error of metabolism. A condition that results from a pathogenic variant in the GAMT gene that maps to 19p13.3. The prevalence can be estimated to be up to 1:2,640,000 cases; countries such as Saudi Arabia could have a higher prevalence due to high consanguinity rates. The clinical manifestations that a patient could obtain are broad and start to manifest in the patients' early childhood years. Materials and Methods: A thorough review of case reports in January 2022 was conducted. The retrieved literature was screened for demographic data. Patients of all ages were included. Qualitative variables were described as number and percentage (%), and quantitative data were described by the mean and standard deviation. In bivariate data, Chi-square test (χ2) was used and t-test for nonparametric variables. Results: Gender distribution was 53% of males and 47% females. Reported age ranged from 8 to 31 months. At the age of onset, 50% of the cases were infants, 28% were toddlers, and 15% were children, concluding that 79% of the reported cases developed symptoms before 5 years old. 68% of the cases developed generalized seizures throughout their life. 84% of the cases expressed a form of developmental delay. 43% of the cases had intellectual disabilities and mental retardation that affected their learning process; most cases required special care. 23% of the affected cases were of consanguineous marriages, and 7% had affected relatives. Conclusion: We described four novel case reports, the first to be reported in Saudi Arabia. Seizure was a leading finding in the majority of the cases. Developmental delay was broadly observed. Intellectual delay and language impairments are primary hallmarks. Further understanding and early diagnosis are recommended. Premarital testing of neurogenetic diseases using whole-exome sequencing is probably a future direction, especially in populations with high consanguinity rates.

4.
Gait Posture ; 113: 215-223, 2024 Jun 13.
Article in English | MEDLINE | ID: mdl-38954927

ABSTRACT

BACKGROUND: Gait abnormality detection is a challenging task in clinical practice. The majority of the current frameworks for gait abnormality detection involve the individual processes of segmentation, feature estimation, feature learning, and similarity assessment. Since each component of these modules is fixed and they are mutually independent, their performance under difficult circumstances is not ideal. We combine those processes into a single framework, a gait abnormality detection system with an end-to-end network. METHODS: It is made up of convolutional neural networks and Deep-Q-learning methods: one for coordinate estimation and the other for classification. In a single joint learning technique that may be trained together, the two networks are modeled. This method is significantly more efficient for use in real life since it drastically simplifies the conventional step-by-step approach. RESULTS: The proposed model is experimented on MATLAB R2020a. While considering into consideration the stability factor, our proposed model attained an average case accuracy of 95.3%, a sensitivity of 96.4%, and a specificity of 94.1%. SIGNIFICANCE: Our paradigm for quantifying gait analysis using commodity equipment will improve access to quantitative gait analysis in medical facilities and rehabilitation centers while also allowing academics to conduct large-scale investigations for gait-related disorders. Numerous experimental findings demonstrate the effectiveness of the proposed strategy and its ability to provide cutting-edge outcomes.

5.
Ann Med Surg (Lond) ; 86(7): 4175-4180, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38989197

ABSTRACT

Introduction and importance: Klippel-Trenaunay syndrome (KTS) is a congenital disorder characterized by the abnormal development of blood vessels, soft tissues, bones, and the lymphatic system. The syndrome is rare, with few cases reported worldwide, especially those describing an association between KTS and spinal extradural meningeal cysts (SEMC). This report highlights a rare case of a pediatric patient with KTS who underwent successful surgical decompression of a thoraco-lumbar extradural cyst, highlighting the importance of reevaluating surgical interventions in KTS patients. Case presentation: A 15-year-old girl diagnosed with KTS 4 days postnatally, was referred to our clinic due to chronic back pain and spastic paraparesis. These symptoms were attributed to a compressive extradural thoraco-lumbar cyst. Diagnostic evaluations confirmed the presence of the cyst, leading to the decision to proceed with surgical intervention. Clinical discussion: The surgical approach involved a laminoplasty at T11-T12-L1, resulting in the total removal of the cystic lesion. The patient exhibited a complete resolution of symptoms postoperatively, with no significant complications reported during the surgery. Conclusion: With this case, the authors question the fear of surgical intervention in KTS patients, which is often avoided due to concerns of high-risk complications like excessive bleeding or poor wound healing, and hint at a possible association between KTS and extradural meningeal cysts.

6.
Leuk Lymphoma ; : 1-11, 2024 Jul 04.
Article in English | MEDLINE | ID: mdl-38962996

ABSTRACT

Acute myeloid leukemia (AML) is a complex hematological malignancy characterized by diverse genetic alterations, each with distinct clinical implications. Chromosome 3 inversion (inv(3)) is a rare genetic anomaly found in approximately 1.4-1.6% of AML cases, which profoundly affects prognosis. This review explores the pathophysiology of inv(3) AML, focusing on fusion genes like GATA2::EVI1 or GATA2::MECOM. These genetic rearrangements disrupt critical cellular processes and lead to leukemia development. Current treatment modalities, including intensive chemotherapy (IC), hypomethylating agents (HMAs) combined with venetoclax, and allogeneic stem cell transplantation are discussed, highlighting outcomes achieved and their limitations. The review also addresses subgroups of inv(3) AML, describing additional mutations and their impact on treatment response. The poor prognosis associated with inv(3) AML underscores the urgent need to develop more potent therapies for this AML subtype. This comprehensive overview aims to contribute to a deeper understanding of inv(3) AML and guide future research and treatment strategies.

7.
Technol Health Care ; 2024 Jun 24.
Article in English | MEDLINE | ID: mdl-38968032

ABSTRACT

BACKGROUND: Due to the increasing prevalence of respiratory diseases and the importance of early diagnosis. The need for non-invasive and touchless medical diagnostic solutions has become increasingly crucial in modern healthcare to detect lung abnormalities. OBJECTIVE: Existing methods for lung abnormality detection often rely on invasive and time-consuming procedures limiting their effectiveness in real-time diagnosis. This work introduces a novel Touchless Lung Abnormality (TO-LAB) detection model utilizing universal software radio peripherals (USRP) and machine learning algorithms. METHODS: The TO-LAB model integrates a blood pressure meter and an RGB-D depth-sensing camera to gather individual data without physical contact. Heart rate (HR) is analyzed through image conversion to IPPG signals, while blood pressure (BP) is obtained via analog conversion from the blood pressure meter. This touchless imaging setup facilitates the extraction of essential signal features crucial for respiratory pattern analysis. Advanced computer vision algorithms like Mel-frequency cepstral coefficients (MFCC) and Principal Component Analysis (PCA) process the acquired data to focus on breathing abnormalities. These features are then combined and inputted into a machine learning-based Multi-class SVM for breathing activity analysis. The Multi-class SVM categorizes breathing abnormalities as normal, shallow, or elevated based on the fused features. The efficiency of this TO-LAB model is evaluated with the simulated and real-time data. RESULTS: According to the findings, the proposed TO-LAB model attains the maximum accuracy of 96.15% for real time data; however, the accuracy increases to 99.54% for simulated data for the efficient classification of breathing abnormalities. CONCLUSION: From this analysis, our model attains better results in simulated data but it declines the accuracy while processing with real-time data. Moreover, this work has a significant medical impact since it presents a solution to the problem of gathering enough data during the epidemic to create a realistic model with a large dataset.

9.
Environ Toxicol Pharmacol ; 110: 104501, 2024 Jul 15.
Article in English | MEDLINE | ID: mdl-39019243

ABSTRACT

DNA damage in embryos shapes the development of an organism. Understanding life stage-specific differences between fish species is essential for ecological risk assessment measures. We explored DNA damage sensitivity in two nonmodel fish species, sterlet (Acipenser ruthenus) and common carp (Cyprinus carpio). Embryos of these species were exposed to a model genotoxicant, camptothecin (CPT), during cleavage (2-cell) stage and gastrulation. Results revealed a species-specific DNA damage sensitivity only at cleavage stage. 3 nM CPT caused lethality in sterlet embryos while carp embryos hatched normally. Multiple nuclear abnormalities were observed in sterlet embryos by early gastrula stage. However, carp embryos exhibited nuclear abnormalities and DNA fragmentation at neurula stage only when exposed to 7 nM CPT. Moreover, increased expression of tp53 in carp embryos at gastrula stage suggests activation of apoptosis mechanism. These findings suggest that carp embryos activate DNA damage response more efficiently than sterlet embryos at same developmental stage.

10.
Cureus ; 16(6): e62552, 2024 Jun.
Article in English | MEDLINE | ID: mdl-39022510

ABSTRACT

This report aims to investigate the association between 47,XXX and fetal hydrops by examining a clinical case and performing a comprehensive review of the relevant literature. A 34-year-old Japanese woman, gravida 2, para 1, was diagnosed with fetal hydrops at 27 weeks' gestation. Prenatal testing revealed a 47,XXX karyotype. Interventions included thoracocentesis and a thoracoamniotic shunt. A cesarean delivery was performed at 34 weeks and the female neonate initially had respiratory challenges. After 69 days in the neonatal intensive care unit, the infant was discharged in stable condition, and the 47,XXX karyotype was confirmed. This case may add evidence suggesting an association between 47,XXX and fetal hydrops. Chromosomal abnormalities are causes of fetal hydrops, but its association with 47,XXX remains unclear. Providing comprehensive information on this condition to couples is crucial, and considering the inclusion of fetal hydrops in the list of associated conditions might be advisable.

11.
Brain ; 2024 Jul 24.
Article in English | MEDLINE | ID: mdl-39045638

ABSTRACT

Late-onset Pompe Disease (LOPD) is a rare genetic disorder caused by the deficiency of acid alpha-glucosidase leading to progressive cellular dysfunction due to the accumulation of glycogen in the lysosome. The mechanism of relentless muscle damage - a classic manifestation of the disease - has been extensively studied by analysing the whole muscle tissue; however, little, if any, is known about transcriptional heterogeneity among nuclei within the multinucleated skeletal muscle cells. This is the first report of application of single nuclei RNA sequencing to uncover changes in the gene expression profile in muscle biopsies from eight patients with LOPD and four muscle samples from age and gender matched healthy controls. We matched these changes with histology findings using GeoMx Spatial Transcriptomics to compare the transcriptome of control myofibers from healthy individuals with non-vacuolated (histologically unaffected) and vacuolated (histologically affected) myofibers of LODP patients. We observed an increase in the proportion of slow and regenerative muscle fibers and macrophages in LOPD muscles. The expression of the genes involved in glycolysis was reduced, whereas the expression of the genes involved in the metabolism of lipids and amino acids was increased in non-vacuolated fibers, indicating early metabolic abnormalities. Additionally, we detected upregulation of autophagy genes, and downregulation of the genes involved in ribosomal and mitochondrial function leading to defective oxidative phosphorylation. The upregulation of the genes associated with inflammation, apoptosis and muscle regeneration was observed only in vacuolated fibers. Notably, enzyme replacement therapy - the only available therapy for the disease - showed a tendency to restore metabolism dysregulation, particularly within slow fibers. A combination of single nuclei RNA sequencing and spatial transcriptomics revealed the landscape of normal and the diseased muscle, and highlighted the early abnormalities associated with the disease progression. Thus, the application of these two new cutting-edge technologies provided insight into the molecular pathophysiology of muscle damage in LOPD and identified potential avenues for therapeutic intervention.

12.
Syst Rev ; 13(1): 190, 2024 Jul 20.
Article in English | MEDLINE | ID: mdl-39033198

ABSTRACT

BACKGROUND: Dyslipidemia is an imbalance of lipid profiles. It increases the chance of clogged arteries and may cause heart attacks, strokes, and other circulatory disorders. Dyslipidemia affects the general population, but its severity is higher in diabetic populations. As a result, the chance of dyslipidemia-associated morbidity and mortality is highest in diabetic patients. In Ethiopia, around 2 to 6.5% of the population live with diabetes, but their lipid profiles are inconsistent across the studies. Therefore, this study aimed to estimate the pooled prevalence of diabetic dyslipidemia and its predictors among people with diabetes in Ethiopia. METHOD: A systematic review and meta-analysis was conducted. The searches were carried out in MEDLINE via PubMed and OVID, EBSCO, Embase, and other supplementary gateways such as Google and Google Scholar, for articles published up to June 2023. The articles were searched and screened by title (ti), abstract (ab), and full text (ft). The quality of the eligible studies was assessed by the Newcastle-Ottawa scale. The heterogeneity was detected by the Cochrane Q statistic test and the I-squared (I2) test. Then subgroup analysis and meta-regression analysis were used to identify the source of the variations. A random or fixed-effect meta-analysis model was used to estimate the overall pooled prevalence and average effects. The publication bias was assessed by the funnel plot asymmetry test and/or Begg and Mazumdar's test for rank correlation (p-value < 0.05). The protocol has been registered in an international database, the prospective register of systematic reviews (PROSPERO), with reference number CRD42023441572. RESULT: A total of 14 articles with 3662 participants were included in this review. The pooled prevalence of diabetic dyslipidemia in Ethiopia was found to be 65.7% (95% confidence interval (CI): 57.5, 73.9), I2 = 97%, and p-value < 0.001. The overall prevalence of triglycerides (TG) and high-density lipoprotein cholesterol (HDL-c) were found to be 51.8% (95% CI: 45.1, 58.6) and 44.2% (95% CI: 32.8, 55.7), respectively, among lipid profiles. In meta-regression analysis, the sample size (p value = 0.01) is the covariate for the variation of the included studies. Being female (adjusted odds ratio (AOR): 3.9, 95% CI: 1.5, 10.1), physical inactivity (AOR: 2.6, 95% CI: 1.5, 4.3), and uncontrolled blood glucose (AOR: 4.2, 95% CI: 1.9, 9.4) were found to be the determinants of dyslipidemia among diabetic patients. CONCLUSION: This review revealed that the prevalence of diabetic dyslipidemia is high among people with diabetes in Ethiopia. Being female, having physical inactivity, and having uncontrolled blood glucose were found to be predictors of dyslipidemia among people with diabetes. Therefore, regular screening of lipid profiles and the provision of lipid-lowering agents should be strengthened to reduce life-threatening cardiovascular complications. Furthermore, interventions based on lifestyle modifications, such as regular physical activity and adequate blood glucose control, need to be encouraged.


Subject(s)
Dyslipidemias , Humans , Ethiopia/epidemiology , Dyslipidemias/epidemiology , Prevalence , Diabetes Mellitus, Type 2/epidemiology , Diabetes Mellitus, Type 2/complications , Risk Factors , Diabetes Mellitus/epidemiology
13.
World J Pediatr Congenit Heart Surg ; : 21501351241256582, 2024 Jul 23.
Article in English | MEDLINE | ID: mdl-39043204

ABSTRACT

BACKGROUND: This study describes the 20-year experience of managing common arterial trunk (CAT) in a low-and-middle-income country and compares the early and medium-term outcomes following the transition from conduit to nonconduit repair at the Red Cross War Memorial Children's Hospital. METHODS: Single-center retrospective study of consecutive patients aged less than 18 years who underwent repair of CAT from January 1999 to December 2018 at the Red Cross War Memorial Children's Hospital. Patients with interrupted aortic arch or previous pulmonary artery banding were excluded. RESULTS: Fifty-four patients had CAT repair during the study period. Thirty-four (63.0%) patients had a conduit repair, and 20 (37.0%) patients had a nonconduit repair. There were two intraoperative deaths. Thirty-day in-hospital mortality was 22.2% (12/54). Overall, in-hospital mortality was 29.6% (16/54). Eight (21.1%) late mortalities were observed. The actuarial survival for the conduit group was 77.5%, 53.4%, and 44.5% at 6, 12, and 27 months, respectively, and the nonconduit group was 58.6% at six months. The overall freedom from reoperation between the conduit group and nonconduit group was 66.2% versus 86.5%, 66.2% versus 76.9%, and 29.8% versus 64.1% at 1, 2, and 8 years, respectively. CONCLUSIONS: The outcomes following the transition to nonconduit repair for CAT in a low- and middle-income setting appear to be encouraging. There was no difference in mortality between conduit and nonconduit repairs, and importantly the results suggest a trend toward lower reintervention rates.

15.
Cureus ; 16(6): e63210, 2024 Jun.
Article in English | MEDLINE | ID: mdl-39070373

ABSTRACT

A 14-month-old female child was brought to us by her parents with the complaint of progressive shortening of her right lower limb since birth. Born to non-consanguineous parents from a poor socioeconomic background, her birth and antenatal history were uneventful. Physical examination revealed no facial dysmorphism; however, her right thigh was short and bulky, and there were restrictions in hip, knee, and ankle movements. The pediatric evaluation showed normal growth and development. X-rays confirmed proximal femoral focal deficiency (PFFD) of the right lower limb. After extensive parental counseling regarding the condition, potential interventions, and outcomes, the parents opted for prosthetic management due to concerns about surgical costs, risks, and cosmetic outcomes. A custom-made extension prosthesis was prepared for the limb and was fit. At a follow-up of one year, the child exhibited a normal gait pattern with stable hip, knee, and ankle motion, and the parents expressed satisfaction with the prosthetic management, preferring it over surgical intervention for the time being.

16.
World J Clin Cases ; 12(18): 3539-3547, 2024 Jun 26.
Article in English | MEDLINE | ID: mdl-38983400

ABSTRACT

BACKGROUND: Few studies have reported an association between an increased risk of acquiring cancers and survival in patients with 4q deletion syndrome. This study presents a rare association between chromosome 4q abnormalities and fallopian tube high-grade serous carcinoma (HGSC) in a young woman. CASE SUMMARY: A 35-year-old woman presented with acute dull abdominal pain and a known chromosomal abnormality involving 4q13.3 duplication and 4q23q24 deletion. Upon arrival at the emergency room, her abdomen appeared ovoid and distended with palpable shifting dullness. Ascites were identified through abdominal ultrasound, and computed tomography revealed an omentum cake and an enlarged bilateral adnexa. Blood tests showed elevated CA-125 levels. Paracentesis was conducted, and immunohistochemistry indicated that the cancer cells favored an ovarian origin, making us suspect ovarian cancer. The patient underwent debulking surgery, which led to a diagnosis of stage IIIC HGSC of the fallopian tube. Subsequently, the patient received adjuvant chemotherapy with carboplatin and paclitaxel, resulting in stable current condition. CONCLUSION: This study demonstrates a rare correlation between a chromosome 4q abnormality and HGSC. UBE2D3 may affect crucial cancer-related pathways, including P53, BRCA, cyclin D, and tyrosine kinase receptors, thereby possibly contributing to cancer development. In addition, ADH1 and DDIT4 may be potential influencers of both carcinogenic and therapeutic responses.

17.
Article in English | MEDLINE | ID: mdl-39069654

ABSTRACT

Background: Epiglottis abnormality is rare condition and can lead embarrassing intubation to anesthesiologists. Here, we reported a case of successful management using a video-styletscope and video-laryngoscope in a patient with unexpected hidden vocal cords due to epiglottis adhesion to the posterior wall of the laryngeal cavity. Case: A 60-year-old female with no underlying disease or history of upper airway surgery was scheduled for general anesthesia to undergo a left -cochlear implant operation. After the induction procedure (including intravenous injection of rocuronium), an epiglottic adhesion to the posterior wall of the laryngeal cavity and invisible vocal cords were confirmed. Although the first trial of intubation failed, the patient's airway was successfully managed using a technique that combined a video-styletscope (Markstein Sichtec Medical Co., 5.0 mm ID, 345 mm length) with a video-laryngoscope (Insighters®, Cedrus Medical). Conclusions: Anesthesiologists may unexpectedly encounter asymptomatic abnormal airways with unknown causes. In such a situation, it is essential to establish a strategy for airway management and to select appropriate device according to patient circumstances.

18.
J Clin Med ; 13(14)2024 Jul 09.
Article in English | MEDLINE | ID: mdl-39064047

ABSTRACT

Background/Objectives: Non-Invasive prenatal test (NIPT) is used as a universal or contingent test after prior risk assessment. Screening is mainly performed for common trisomies (T21, T13, T18), although other chromosomal anomalies may be detected. Our objective was to study the performance of GWNIPT in the detection of chromosomal abnormalities in pregnancies in which an invasive prenatal study was performed and in early pregnancy losses, in comparison with the reference test. Method: VeriSeqTM NIPT Solution v2, a genome-wide NIPT (GWNIPT), was performed prior to invasive testing in fetal diagnostic study cases (FDS, n = 155) and in early pregnancy losses (EPL, n = 68). Results: In the FDS group, the diagnostic test (QFPCR, array and karyotype) detected anomalies in 32 pregnancies (21%), in twenty of them (61%) also detected by GWNIPT. Eleven of the twelve cases undetected by GWNIPT were balanced translocations (n = 4) or deletions/duplications <7 Mb (n = 7). In the EPL group, GWNIPT detected anomalies in 46% of cases (31/68) but comparison with reference test (QFPCR and karyotype) in products of conception (POC) was only possible in 18 cases. Concordant results between POC and GWNIPT test were obtained in 16 of the 18 cases. In EPL, with GWNIPT testing, common trisomies accounted for 25.8% of cases (8/31), rare trisomies 54.8% (17/31) and microdeletions/duplications 16.1% (5/31). Conclusions: The GWNIPT test may be useful in clinical practice in prenatal and in EPL's genetic diagnosis when the appropriate sample is not available.

19.
Sci Total Environ ; 947: 174614, 2024 Oct 15.
Article in English | MEDLINE | ID: mdl-38992354

ABSTRACT

This study aimed to determine the potential toxicological effects of carbon nanotubes (CNTs), their modifications with ethylenediamine (ED) and boric acid (BA) on aquatic organisms. Specifically, the research focused on the morphological, physiological, and histopathological-immuno-histochemical responses in zebrafish (Danio rerio) embryos and larvae, via applying different concentrations of CNTs, CNT-ED, and CNT-ED-BA (Control, 5, 10, and 20 mg/L). The results indicated that 20 mg/L CNT nanoparticles were toxic to zebrafish larvae, with mortality rates increasing with CNT and CNT-ED concentrations, reaching 36.7 % at the highest CNT concentration. The highest dose caused considerable degeneration, necrosis, DNA damage, and apoptosis, as evidenced by histopathological and immunohistochemical tests. In contrast, despite their high concentration, CNT-ED-BA nanoparticles exhibited low toxicity. Behavioral studies revealed that CNT and CNT-ED nanoparticles had a more significant impact on sensory-motor functions compared to CNT-ED-BA nanoparticles. These findings suggest that modifying the nanosurface with boric acid, resulting in boramidic acid, can reduce the toxicity induced by CNT and CNT-ED.


Subject(s)
Boric Acids , Embryo, Nonmammalian , Larva , Nanotubes, Carbon , Water Pollutants, Chemical , Zebrafish , Animals , Nanotubes, Carbon/toxicity , Embryo, Nonmammalian/drug effects , Boric Acids/toxicity , Larva/drug effects , Water Pollutants, Chemical/toxicity
20.
Future Cardiol ; 20(4): 209-220, 2024 Mar 11.
Article in English | MEDLINE | ID: mdl-39049767

ABSTRACT

Aim: Deep learning's widespread use prompts heightened scrutiny, particularly in the biomedical fields, with a specific focus on model generalizability. This study delves into the influence of training data characteristics on the generalization performance of models, specifically in cardiac abnormality detection. Materials & methods: Leveraging diverse electrocardiogram datasets, models are trained on subsets with varying characteristics and subsequently compared for performance. Additionally, the introduction of the attention mechanism aims to improve generalizability. Results: Experiments reveal that using a balanced dataset, just 1% of a large dataset, leads to equal performance in generalization tasks, notably in detecting cardiology abnormalities. Conclusion: This balanced training data notably enhances model generalizability, while the integration of the attention mechanism further refines the model's ability to generalize effectively.


This study tackles a common problem for deep learning models: they often struggle when faced with new, unfamiliar data that they have not been trained on. This phenomenon is also known as performance drop in out-of-distribution generalization. This reduced performance on out-of-distribution generalization is a key focus of the research, aiming to improve the models' ability to handle diverse data sets beyond their training data.The study examines how the characteristics of the dataset used to train deep learning models affect their ability to detect abnormal heart activities when applied to new, unseen data. Researchers trained these models using various sets of electrocardiogram (ECG) data and then evaluated their performance in identifying abnormalities. They also introduced an attention mechanism to enhance the models' learning capabilities. The attention mechanism in deep learning is like a spotlight that helps the model focus on important information while ignoring less relevant details.The findings were particularly noteworthy. Despite being trained on a small, well-balanced subset of a larger dataset, the models excelled in detecting heart abnormalities in new, unfamiliar data. This training method significantly improved the models' generalization and performance with unseen data. Furthermore, integrating the attention mechanism substantially enhanced the models' ability to generalize effectively on new information.


Subject(s)
Deep Learning , Electrocardiography , Humans , Electrocardiography/methods
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