Frequency Of Abnormalities Research Articles

Human metapneumovirus infection is associated with a substantial morbidity and mortality burden in adult inpatients

BackgroundHuman metapneumovirus (hMPV) is one of the leading respiratory viruses. This prospective observational study aimed to describe the clinical features and the outcomes of hMPV-associated lower respiratory tract infections in adult inpatients. MethodsConsecutive adult patients admitted to one of the 31 participating centers with an acute lower respiratory tract infection and a respiratory multiplex PCR positive for hMPV were included. A primary composite end point of complicated course (hospital death and/or the need for invasive mechanical ventilation) was used. ResultsBetween March 2018 and May 2019, 208 patients were included. The median age was 74 [62–84] years. Ninety-seven (47 %) patients were men, 187 (90 %) had at least one coexisting illness, and 67 (31 %) were immunocompromised. Median time between first symptoms and hospital admission was 3 [2–7] days. The two most frequent symptoms were dyspnea (86 %) and cough (85 %). The three most frequent clinical diagnoses were pneumonia (42 %), acute bronchitis (20 %) and acute exacerbation of chronic obstructive pulmonary disease (16 %). Among the 52 (25 %) patients who had a lung CT-scan, the most frequent abnormality was ground glass opacity (41 %). While over four-fifths of patients (81 %) received empirical antibiotic therapy, a bacterial coinfection was diagnosed in 61 (29 %) patients. Mixed flora (16 %) and enterobacteria (5 %) were the predominant documentations. The composite criterion of complicated course was assessable in 202 (97 %) patients, and present in 37 (18 %) of them. In the subpopulation of pneumonia patients (42 %), we observed a more complicated course in those with a bacterial coinfection (8/24, 33 %) as compared to those without (5/60, 8 %) (p = 0.02). Sixty (29 %) patients were admitted to the intensive care unit. Among them, 23 (38 %) patients required invasive mechanical ventilation. In multivariable analysis, tachycardia and alteration of consciousness were identified as risk factors for complicated course. ConclusionhMPV-associated lower respiratory tract infections in adult inpatients mostly involved elderly people with pre-existing conditions. Bacterial coinfection was present in nearly 30 % of the patients. The need for mechanical ventilation and/or the hospital death were observed in almost 20 % of the patients.

Characteristics of Pediatric Concussion across Different Mechanisms of Injury in 5 through 12-Year-Olds

To investigate characteristics of sport-related concussion (SRC), recreation-related concussion (RRC), and nonsport or recreation-related concussion (non-SRRC) in patients 5 through 12years old, an understudied population in youth concussion. This observational study included patients aged 5 through 12years presenting to a specialty care concussion setting at ≤28days postinjury from 2018 through 2022. The following characteristics were assessed: demographics, injury mechanism (SRC, RRC, or SRRC), point of healthcare entry, and clinical signs and symptoms. Kruskal-Wallis and chi-square tests were used to assess group differences. Posthoc pairwise comparisons were employed for all analyses (α=0.017). One thousand one hundred forty-one patients reported at ≤28days of injury (female=42.9%, median age=11, interquartile range (IQR)=9-12) with the most common mechanism being RRC (37.3%), followed by non-SRRC (31.9%). More non-SRRCs (39.6%) and RRC (35.7%) were first seen in the emergency department (P<.001) compared with SRC (27.9%). Patients with RRC and non-SRRC were first evaluated at specialists 2 and 3days later than SRC (P<.001). Patients with non-SRRC reported with higher symptom burden, more frequent visio-vestibular abnormalities, and more changes to sleep and daily habits (P<.001) compared with RRC and SRC (P<.001). In concussion patients 5 through 12years, RRCs and non-SRRC were more prevalent than SRC, presenting first more commonly to the emergency department and taking longer to present to specialists. Non-SRRC had more severe clinical features. RRC and non-SRRC are distinct from SRC in potential for less supervision at time of injury and less direct access to established concussion health care following injury.

Research on defense strategies for power system frequency stability under false data injection attacks

The rapid development of cyber-physical power system has highlighted the pressing issue of cyber attacks (CAs) faced by large-scale renewable energy power systems (LREPS). The injection of false data attacks on critical electrical equipment by attackers can lead to abnormal system frequencies, triggering cascade failures and causing widespread blackouts. This paper introduces a tri-level defense model specifically crafted for LREPS, comprising an upper, middle, and lower level (defender-attacker-operator). By promoting collaborative decision-making among these agents, the model aims to mitigate the rate of change of frequency (RoCoF) and effectively withstand CAs. The upper-level employs an economic-inertia optimization strategy, scheduling generator units to maximize system inertia while minimizing generation costs. By leveraging the strong duality theorem, the tri-level model is decomposed into a bi-level model consisting of a master problem and a subproblem, solved using the Benders decomposition method. Furthermore, this paper also considers augmenting the virtual inertia of renewable energy units when defense resources are insufficient, ensuring RoCoF remains within limits after CAs. The effectiveness and superiority of the proposed model and strategy are validated through case studies based on the improved IEEE 118-bus system. The results demonstrate that the model can reduce load shedding caused by the worst-case CAs, enhance system inertia, lower RoCoF, and improve the stability of LREPS.

Characterization of Retinal Microvascular Abnormalities in Birdshot Chorioretinopathy Using OCT Angiography

To characterize changes in the retinal microvasculature in eyes with birdshot chorioretinopathy (BCR) using OCT angiography (OCTA). Retrospective, observational, single center. Twenty-eight patients (53 eyes) with BCR and 59 age-matched controls (110 eyes). En face OCTA images of the superficial capillary plexus (SCP) and deep capillary plexus (DCP) of each eye were assessed for the presence of microvascular abnormalities and used to measure the vessel and foveal avascular zone (FAZ) areas. A longitudinal analysis was performed with a representative cohort of 23 BCR eyes (16 patients) at baseline and at a 2-year time point. Whole-image vessel density (VD, %), extrafoveal avascular zone (extra-FAZ) VD (%), and FAZ area (%) were calculated and compared between control and BCR eyes. The frequency of microvascular abnormalities in BCR eyes was recorded. In the SCP, increased intercapillary space and capillary loops were common features present on OCTA images. Whole-image and extra-FAZ VD were lower in the BCR group compared with controls (P < 0.0001 [SCP and DCP]). Foveal avascular zone area was enlarged in BCR eyes (P= 0.0008 [DCP]). Worsening best-corrected visual acuity was associated with a decrease in whole-image and extra-FAZ VD in the SCP (P<0.0001 for both) and the DCP (P < 0.005 for both). Multivariable analysis, with vessel analysis parameters as outcomes, demonstrated that increasing age, increasing disease duration, lower central subfield thickness, and treatment-naive eyes (compared with those on only biologics) were associated with a significant decrease in both DCP whole-image and extra-FAZ VD. Increasing disease duration was associated with a significant decrease in both SCP whole-image and extra-FAZ VD. Longitudinal analysis demonstrated no significant difference in any vessel analysis parameters except for an increase in DCP FAZ area. Our results demonstrate a significant a decrease in VD in BCR eyes and an association on multivariable analysis with disease duration. Quantifying VD in the retinal microvasculature may be a useful biomarker for monitoring disease severity and progression in patients with BCR. Further studies with extended longitudinal follow-up are needed to characterize its utility in monitoring disease progression and treatment response. Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Ecotoxicological consequences of urbanization: A multi-biomarker approach to assessing sewage treatment plant effects on free-living birds

Birds are good bioindicators of disturbance in the environment. They are present in different habitats and trophic levels. In addition, rapid urbanization has led birds to use cities as shelter and for seeking food resources. Sewage treatment plants (STPs) are suitable locations for free-living birds within cities. However, few studies address the impacts of emerging pollutants from sewage treatment plants on wild birds. In this sense, the aim of this study was to analyze the genotoxic, mutagenic, and immunological impacts from metal and pollutant exposure on free-living birds collected at a STP. For comparison, birds were collected in a preserved environment, the Silvania National Forest (FLONA). To achieve this, we used non-destructive biomarkers sensitive to environmental changes. Birds were collected in both environments using mist nets. After collection, birds were weighed, measured, species-identified, and released. Blood was collected for comet assay, micronucleus test, and leukocyte profile, while feathers were collected for metal concentration analysis. Water physicochemical parameters were measured at both sites, and water samples were collected for metal analysis. Our results demonstrated that birds collected at the STP exhibit a higher frequency of genotoxic damage and erythrocyte abnormalities, and increased immune response compared to FLONA birds. Traces of potentially toxic metals, such as Hg and As, were found in the birds feathers from both environments, raising concerns about metal contamination in both environments. Trophic guilds appear to respond similarly to exposure. The parameters and metals found in the water reflect environmental characteristics and may be influencing pollutant availability. Finally, despite the advancement of our findings, studies linking these damages to detrimental effects on behavior and reproduction are encouraged.

Evaluation of oxidative damage and genotoxicity in populations exposed to arsenic in drinking water from Santa Fe province, Argentina

The presence of arsenic in the environment is a public health problem. Groundwater of certain regions of Argentina contains arsenic of natural origin in concentrations that exceed the guide level recommended by World Health Organization (WHO, 10 µg/L). Pathologies derived from chronic arsenic consumption justify the planning of human biomonitoring. Hence, the aim of this study was to evaluate oxidative damage and genotoxicity and its relationship with nutritional variables in populations exposed to arsenic through drinking water in Santa Fe province, Argentina. A total of 322 participants were analyzed for arsenic in urine together with biomarkers of genotoxicity (Comet assay in blood and frequency of Micronuclei and other Nuclear Abnormalities in exfoliated buccal cells) and oxidative stress (modified Comet assay with Endonuclease III, Lipid peroxidation and antioxidant enzyme activity), as well as nutritional and biochemical variables. Results showed that 45 % of participants excreted arsenic in the urine. Consumption of water with arsenic, whether currently or previously, was associated with statistically significant increase of oxidative DNA damage and lipid peroxidation. MN in exfoliated buccal cells serve as an early biomarker of genotoxicity and showed significant differences in the current exposed group. Biochemical results indicate dyslipidemias potentially linked to dietary choices, and insufficient intake of fruits and vegetables rich in antioxidants, was also noted. This study advocates risk communication to the population, educators, and health authorities, emphasizing the need for preventive health strategies and improved food education.

Autonomic impairment in primary lateral sclerosis.

Prior studies reported evidence of autonomic involvement in motor neuron disease and suggested more severe dysfunction in upper motor neuron predominant syndromes. Hence, we sought to characterize autonomic impairment in primary lateral sclerosis. Neurological evaluations, thermoregulatory sweat tests, and autonomic reflex screens were analyzed retrospectively in 34 primary lateral sclerosis patients (28 definite and 6 probable). Patients with other potential causes of autonomic failure and patients with autonomic testing results compromised by artifact were excluded. A total of 17 patients reported autonomic symptoms. Orthostatic lightheadedness was most frequent (8 patients), followed by bladder (7), bowel (5), and erectile dysfunction (3). The autonomic reflex screens of 33 patients were reviewed; 20 patients had abnormal studies. The thermoregulatory sweat tests of 19 patients were reviewed; 11 patients had abnormal studies. Composite Autonomic Severity Score was calculated for 33 patients and found abnormal in 20/33 patients (60.6%): 15/20 patients (75%) had mild impairment, and 5/20 patients (25%) had moderate impairment. The frequencies of testing abnormalities were: sudomotor 18/20 (90%), cardiovagal 9/20 (45%), and adrenergic 6/20 (30%). Sweat loss pattern analysis showed global, regional, and mixed patterns to be more common than length-dependent and distal patterns. We found evidence of frequent autonomic dysfunction in primary lateral sclerosis, which is generally of modest severity akin to prior reports for amyotrophic lateral sclerosis, but more commonly in a pattern consistent with preganglionic/ganglionic localization. This suggests that primary lateral sclerosis, as with amyotrophic lateral sclerosis, is a multisystem disease that affects the autonomic nervous system.

Frequency of Hyponatremia &amp; Hypokalemia in Children under 5 Years with Acute Diarrhoea

Background: Acute diarrhea poses a significant health threat to children globally, often leading to severe morbidity and mortality, particularly in developing countries. Electrolyte imbalances, including hyponatremia and hypokalemia, are common complications associated with acute diarrhea, further exacerbating the risk of adverse outcomes. Objective: This study aimed to evaluate the frequency of sodium and potassium abnormalities, specifically hyponatremia and hypokalemia, in children presenting with acute diarrhea. Methodology: A prospective cohort study was conducted at the Pediatric department of a tertiary hospital from July 2022 to June 2023. A total of 130 pediatric patients aged up to 5 years, presenting with acute diarrhea, were included in the study. Clinical examinations were conducted, and demographic data, including age, gender, residence, and socioeconomic status, were recorded. Serum sodium and potassium levels were determined from venous blood samples, and hyponatremia and hypokalemia were defined as sodium levels &lt;130 mmol/l and potassium levels &lt;3.5 mmol/l, respectively. Statistical analysis was performed using SPSS 24.0. Results: The mean age of the patients was 2.38 years, with a disease duration of 3.54 days. Male patients accounted for 60% of the cohort, and urban residency was predominant (55%). Clinical symptoms included loose motion (100%), abdominal pain (70%), fever (35%), vomiting (31%), and lethargy (27%). Hyponatremia was observed in 30% of patients, while hypokalemia was present in 40% of cases. Conclusion: Sodium and potassium imbalances are prevalent among children with acute diarrhea, highlighting the need for vigilant monitoring and appropriate management strategies to prevent adverse outcomes. The high incidence of hyponatremia and hypokalemia underscores the importance of early recognition and intervention in pediatric patients presenting with acute diarrhea.

Abstract A012: Targeting proteasome vulnerabilities for the treatment of monosomy 7 associated blood disorders

Abstract Monosomy 7 is among the most frequent cytogenetic abnormalities in hematological disorders and is associated with short survival and drug resistance. Despite its high prevalence and detrimental impact, the therapeutic vulnerabilities underlying monosomy 7-associated blood disorders remain largely elusive, impeding progress toward improved patient care. The homeostatic cellular requirement for a normal dosage of essential genes creates an opportunity to target vulnerabilities that arise due to reduced levels of proteins encoded by a haploinsufficient essential gene. Briefly, the loss of one copy of a dosage-sensitive essential gene (gene X), in combination with the inhibition of itself or a related gene (gene Y), or an associated pathway results in lethal consequences for cells. The remarkable and selective clinical efficacy of lenalidomide for the treatment of del(5q) MDS has demonstrated how allelic haploinsufficiency underlies the sensitivity to this drug by synthetic lethality. Differential expression analysis of gene and protein expression in primary AML samples with monosomy 7 revealed significant downregulation of multiple proteasome pathway members at the protein level, but not at the RNA level. Primary AML samples with -7/del(7q) exhibited increased sensitivity (low IC50) to the proteasome inhibitor bortezomib, as evidenced by two independent ex vivo drug screening cohorts (the Beat AML and the FIMM study). Chromosome 7 harbors four proteasome subunits, PSMA2, PSMC2, PSMG3, and SEM1. We performed gene expression, protein expression, copy number analysis, and individual gene knockout experiments. The results have revealed PSMA2 to be a haploinsufficient essential gene on chromosome 7. PSMA2 knockout confers leukemia a growth disadvantage for multiple AML cell clines in both TP53 wild-type and knockout backgrounds. We generated PSMA2 isogenic hemizygous deletion and diploid single-cell clones. PSMA2 hemizygous deletion cells exhibited approximately half the protein expression compared to diploid controls, confirming that PSMA2 is a haploinsufficient gene. PSMA2hemizygous deletion single-cell clones showed significantly enhanced sensitivity to all three evaluated proteasome inhibitors (bortezomib, ixazomib, and carfilzomib), aligning with the sensitivity observed in primary -7/del(7q) leukemia samples. PSMA2 hemizygous deletion cell clones displayed increased p38 and decreased pERK levels upon treatment with proteasome inhibitors, potentially contributing to their increased sensitivity to proteasome inhibitors. Proteomics analysis and in vivo validation is ongoing. As such, we have identified haploinsufficient essential gene PSMA2 mediated proteasome pathway vulnerability in monosomy 7 associated leukemia and further showed that proteasome inhibitors as promising therapeutic approaches for treating hematological disorders associated with monosomy 7. Citation Format: Haijiao Zhang, Basil Allen, Daniel Bottomly, Peter Ryabinin, Schannon K. Targeting proteasome vulnerabilities for the treatment of monosomy 7 associated blood disorders [abstract]. In: Proceedings of the AACR Special Conference in Cancer Research: Expanding and Translating Cancer Synthetic Vulnerabilities; 2024 Jun 10-13; Montreal, Quebec, Canada. Philadelphia (PA): AACR; Mol Cancer Ther 2024;23(6 Suppl):Abstract nr A012.

Neurological abnormalities in individuals with Marfan syndrome: results from a genetically confirmed Italian cohort.

Neurological abnormalities have been frequently reported in individuals with Marfan Syndrome (MFS). However, available data relies solely on retrospective studies predating current diagnostic criteria. Cross-sectional study comprehensively investigating neurological abnormalities within a prospective cohort of adults (≥ 18years) with genetically confirmed MFS referred to an Italian hub center for heritable connective tissue diseases (Jan. 1st - Nov. 15th, 2021). We included a total of 38 individuals (53% female). The commonest neurological symptom was migraine (58%), usually without aura (73%). Neuropsychological testing was generally unremarkable, whilst anxiety and depression were highly prevalent within our cohort (42% and 34%, respectively). The most frequent brain parenchymal abnormality was the presence of cortico-subcortical hypointense spots on brain MRI T2* Gradient-Echo sequences (39%), which were found only in patients with a prior history of aortic surgery. Migraineurs had a higher frequency of brain vessels tortuosity vs. individuals without migraine (73% vs. 31%; p = 0.027) and showed higher average and maximum tortuosity indexes in both anterior and posterior circulation brain vessels (all p < 0.05). At univariate regression analysis, the presence of brain vessels tortuosity was significantly associated with a higher risk of migraine (OR 5.87, CI 95% 1.42-24.11; p = 0.014). Our study confirms that neurological abnormalities are frequent in individuals with MFS. While migraine appears to be associated with brain vessels tortuosity, brain parenchymal abnormalities are typical of individuals with a prior history of aortic surgery. Larger prospective studies are needed to understand the relationship between parenchymal abnormalities and long-term cognitive outcomes.

Association between gait speed deterioration and EEG abnormalities.

Physical and cognitive decline at an older age is preceded by changes that accumulate over time until they become clinically evident difficulties. These changes, frequently overlooked by patients and health professionals, may respond better than fully established conditions to strategies designed to prevent disabilities and dependence in later life. The objective of this study was twofold; to provide further support for the need to screen for early functional changes in older adults and to look for an early association between decline in mobility and cognition. A cross-sectional cohort study was conducted on 95 active functionally independent community-dwelling older adults in Havana, Cuba. We measured their gait speed at the usual pace and the cognitive status using the MMSE. A value of 0.8 m/s was used as the cut-off point to decide whether they presented a decline in gait speed. A quantitative analysis of their EEG at rest was also performed to look for an associated subclinical decline in brain function. Results show that 70% of the sample had a gait speed deterioration (i.e., lower than 0.8 m/s), of which 80% also had an abnormal EEG frequency composition for their age. While there was no statistically significant difference in the MMSE score between participants with a gait speed above and below the selected cut-off, individuals with MMSE scores below 25 also had a gait speed<0.8 m/s and an abnormal EEG frequency composition. Our results provide further evidence of early decline in older adults-even if still independent and active-and point to the need for clinical pathways that incorporate screening and early intervention targeted at early deterioration to prolong the years of functional life in older age.

Abnormalities detected on digital rectal examinations in dogs are common and influence diagnostic and treatment plans.

To determine the frequency of abnormal findings on digital rectal examination (DRE) performed during physical examinations at a tertiary referral veterinary hospital, to establish what abnormal findings are most common and whether they impact diagnostic and treatment plans, and to assess whether patient signalment or admitting service influences the frequency of abnormalities. Client-owned dogs (n = 440). Veterinarians performed DREs on dogs as part of a physical examination. Patient signalment and DRE findings were recorded in a standardized survey. Findings were deemed normal or abnormal and described. Whether the findings changed the diagnostic or treatment plan was also recorded. Abnormalities were detected on DRE in 160 of 440 (36%) dogs. Changes to the diagnostic plan occurred in 41 of 160 (26%) cases when an abnormality was found. Changes to the treatment plan occurred in 20 of 160 (12.5%) cases when an abnormality was found. Age (P = .2), sex (P = .9), and breed (P = 1) did not significantly influence the frequency of abnormal findings. Abnormal findings were significantly more common in dogs presenting to the emergency service than elective services (P = .005). Among dogs presenting to a tertiary veterinary hospital, abnormalities found on DRE are common and change the diagnostic plan in 1 out of 4 dogs and treatment plan in 1 out of 8 dogs. This study supports the continued practice of DREs in dogs, especially in emergency settings, regardless of signalment.

Frequency of Abnormal Findings on Chest Radiographs: Analysis of Chest X-Ray Reports in the Metropolis

Introduction: To achieve the highest diagnostic accuracy of AI services in radiology, it is necessary to test and validate them on data sets that consider the balance of classes of various abnormalities. Information about the frequency of abnormal findings in practical healthcare is essential for creation of such datasets. Objective: To establish the frequency of chest X-ray abnormalities using big data from the healthcare system of a Russian metropolis. Materials and methods: We conducted an observational multicenter retrospective sample study by retrieving 562,077 chest X-ray reports dated February 18, 2021 to June 11, 2021 from the Unified Radiological Information Service of the Unified Medical Information Analysis System of the city of Moscow, which were then analyzed and automatically labeled using the Medlabel tool. The results were processed in Microsoft Excel and using the Python 3.9 programming language. Group differences were determined using the chi-square test. Results: Among all analyzed reports, cardiomegaly was the most frequent abnormal finding (12.23 %), while the proportion of other abnormalities did not exceed 3.0 %. Among all abnormal chest X-rays, 79.60 % showed only one abnormality with cardiomegaly found in 80.78 % of cases. Among the reports with two or more abnormal findings, cardiomegaly was detected in only 43.36 % of cases, whereas opacities (64.98 %) and infiltration/consolidation (64.50 %) prevailed. Conclusions: The proportion of abnormal chest X-rays was 16.7 %. In terms of the frequency of occurrence, cardiomegaly ranked first followed by focal pulmonary opacity and infiltration/consolidation. It is worth noting that the frequency of certain types of abnormalities varied significantly between the tests with one and several (two or more) abnormal findings, which should be taken into account when training and testing AI services.

Use of lecanemab for the treatment of Alzheimer's disease: A systematic review.

The US Food and Drug Administration authorized lecanemab for the therapeutic use of Alzheimer's disease (AD) in January 2023. To assess the effectiveness and safety of lecanemab in treating AD, we thoroughly examined the studies that are currently accessible. Preferred Reporting Items for Systematic Reviews and Meta-Analysis recommendations were followed. In order to find relevant studies on lecanemab, we carried out a thorough literature search utilizing the electronic databases MEDLINE via PubMed, Cochrane, Web of Science, EBSCOhost, and Scopus. Excluding any research using experimental animals, we looked at lecanemab's effectiveness and side effects in treating AD in human clinical trials. Three randomized controlled studies were included. According to studies, lecanemab lessens clinical deterioration and reduces brain amyloid-beta plaques (difference,.45; 95% confidence interval,.67 to.23; p<.001). Participants who received lecanemab saw a greater frequency of amyloid-related imaging abnormalities (ARIA)-H (17.3% vs. 9.0%) and ARIA-E (12.6% vs. 1.7%), which is a significant adverse outcome. Lecanemab has been shown to have an impact on the two primary pathophysiologic indicators of AD (Aβ and tau). There are still a lot of unresolved issues related to lecanemab. Future research on the effectiveness and safety of lecanemab is advised in order to determine that the advantages of this medication exceed the disadvantages.

Role of Mri in Characterization of Congenital Malformations of Brain in A Tertiary Care Centre-A Retrospective Study

Background: Congenital brain anomalies are rare among the congenital anomalies of various organ systems. It is crucial to recognise these disorders as soon as possible because of the extensive neurological deficiency and negative consequences they can cause. Neuroimaging is a reliable way to accurately diagnose the majority of congenital brain abnormalities. There aren't enough statistics available in developing countries like India about the frequency and types of brain abnormalities. The purpose of this study is to examine the prevalence and range of frequently occurring congenital brain abnormalities. Objective: To study the whole spectrum of all substantial and frequently occurring congenital abnormalities as well as the proportional distribution of the various brain malformations in a tertiary care centre. Methods and materials: The study was conducted at Department of Radio-Diagnosis, Medical College Kolkata from 1st September 2022 to 31st August 2023. All MRI brain examinations at our hospital over a period of one year were retrospectively reviewed and analysed by sex, age at presentation, type of congenital cerebral malformation, and other associated congenital cerebral malformations. Results: This study included 24 patients. The total number of brain malformations identified in these patients was 33. The age of patients at first MRI imaging ranged from 5 days to 16 years. There were 14 males and 10 females. The most common malformations were corpus callosum dysgenesis (24%), Heterotropia (15%) and Lissencephaly (12%). Seven patients (29.1%) had more than one congenital brain malformation. Conclusion: The variety and complexity of congenital brain abnormalities is remarkable. The correct diagnosis is essential for the best care of these unfortunate conditions, and MRI plays a significant role in this process. Identification of distinctive neuroimaging findings of various congenital brain anomalies are immensely helpful in diagnosing the anomalies and further management.

Incidence and Risk Factors of Cholestasis in Newborns with Hemolytic Disease-A Case-Control Study.

Background/Objectives: One of the rare causes of cholestasis may be hemolytic disease of the fetus and newborn (HDFN). Methods: We retrospectively analyzed 88 medical records of HDFN newborns with cholestasis and 186 records of children with HDFN without cholestasis and conducted an observational, case-control, retrospective study. Results: Factors influencing the risk of cholestasis were lower gestational age at birth (36.83 ± 1.9 vs. 37.57 ± 1.8, p = 0.002), Rh or Kidd HDFN (80.7% vs. 53.2%), and the need for intrauterine transfusion (27.3 vs. 11.8%). The subjects had lower hemoglobin concentrations at birth (14.01 ± 3.8 vs. 16.39 ± 2.8 g/dL) and during whole hospital stay, higher cord blood total bilirubin concentration (4.26 ± 1.8 vs. 2.39 ± 1.4 mg/dL), higher maximum bilirubin concentration (15.27 ± 5.8 vs. 10.24 ± 3.4 mg/dL), and more frequent liver ultrasound abnormalities (19.9 vs. 6.3%). They also required more extended hospitalization due to higher rates of postnatal blood transfusion (33 vs. 3.8%), more frequent need for exchange transfusion (8.8% vs. 2.2%), more extended time and higher risk of phototherapy (94.3 vs. 59.1%), and higher usage of immunoglobulins (55.7 vs. 8.1%), parenteral nutrition (45.5 vs. 12.9%), and antibiotics (14.8 vs. 4.8%). Conclusions: The risk factors for cholestasis in children with HDFN are lower gestational age at delivery, Rh and Kidd serological type of HDFN, and the need for intrauterine transfusions.

Evaluation the Application of Karyotype Analysis and Chromosome Microarray in Prenatal Diagnosis.

We aimed to compare the difference of the chromosomal abnormalities using karyotype analysis and chromosomal microarray (CMA) as well as to evaluate their application in different prenatal diagnosis indications. Overall, 3007 pregnant women with prenatal diagnosis indications from Medical Genetics Department of Linyi Women and Children's Health Care Hospital, who underwent standard G-banded karyotype analysis and CMA, were enrolled from 2018-2022. G-banded karyotype analysis and CMA were undergone simultaneously. All fetuses with genetic variants were enrolled for further analyzing. The frequency and differences of chromosomal abnormalities of the two methods were compared in different prenatal diagnosis indications groups. CMA improved 4.09% (123/3007) of genetic changes compared karyotype analysis. CMA is on par with karyotyping for detection of aneuploidies and gross unbalanced rearrangements. Serological screening and ultrasound abnormalities were the main indications of prenatal diagnosis. The detection rate of chromosomal abnormalities was highest in non-invasive prenatal testing (NIPT) abnormal group. In the ultrasound abnormality group, the detection rate of genetic variants in nuchal translucency (NT) increased group was higher than other subgroups and there was statistically significant difference in the detection rate of pCNVs. CMA can detect 5.57% (40/718) more genetic abnormalities in ultrasound abnormality group on the normal karyotype. CMA improved 0.67% (20/3007) of genetic changes with clinically significant compared karyotype, brought 3.42% (103/3007) of variants with uncertain significance (VOUS). CMA identified additional, clinically significant genetic variants on the basis of normal karyotype analysis, brought a proportion of unclear significant variants. All the pregnant women accepted amniocentesis should be informed about their characteristics of karyotype analysis and CMA by genetic counselors.

Chromosomal abnormalities in primary and secondary amenorrhea

Background: Menstruation is an important physiological function of the female reproductive system. The absence of menstruation is called amenorrhea. Many genetic and nongenetic causes are responsible for primary or secondary amenorrhea. This study aimed to determine the types chromosomal abnormalities among patients with primary or secondary amenorrhea. Methods: It was a cross-sectional study conducted in the Department of Pathology, Bangabandhu Sheikh Mujib Medical University, Dhaka, from September 2019 to August 2021. A total of 115 women who had come for a karyotype test with complaints of pathological amenorrhea were purposively selected. One hundred five cases presented with primary amenorrhea, and 10 cases presented with secondary amenorrhea. Karyotype analysis in peripheral blood by G-banding was carried out using the standard method. Results: Among the 105 patients with primary amenorrhea, 53.3% of patients had a normal karyotype (46, XX), and 46.6% had chromosomal abnormalities (numerical or structural). Turner syndrome classic, 45, XO (16.2%) and 46, XY DSD (Disorders of Sexual Development) (11.4%) were the two most frequent chromosomal abnormalities found in the patients with primary amenorrhea. Among the 10 cases with secondary amenorrhea, seven patients had normal karyotype, and three patients had chromosomal abnormalities (2 had sex chromosomal abnormalities, and 1 had a structural abnormality of autosome). Conclusion: The study of chromosomal abnormalities will help in the early and accurate diagnosis of the underlying aetiology of primary or secondary amenorrhea. It will also help in the management and proper counselling of cases.

Polymorphous Low-Grade Neuroepithelial Tumor of the Young (PLNTY): Scoping Review of Case Reports and Case Series.

Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) is considered one of the low-grade neuroepithelial tumors, as per the World Health Organization 2021 classification of brain tumors. First described in 2016, these morphologically variable tumors are characterized by oligodendroglioma-like cellular components, infiltrative growth patterns, and cluster of differentiation 34 immunopositivity. A literature search of the PubMed/MEDLINE, SCOPUS, ScienceDirect, and COCHRANE databases (from inception to 20th June 2022) was carried out to identify relevant studies. To identify additional studies, we performed a recursive search of the bibliographies of the selected articles and published systematic reviews on this topic. The search yielded a total of 64 results. After removing duplicates, 26 articles were eligible for the review. The diagnostic criteria for these glioneuronal variants, representing a broad neuropathological spectrum, are not distinct and hence impede proper diagnosis and prognosis. Frequent genetic abnormalities involving mitogen-activated protein kinase pathway constituents, such as B-Raf proto-oncogene or fibroblast growth receptor 2/3, are harbored by PLNTYs. Recent advances in molecular diagnostics have resulted in more accurate tumor classification systems, based on gene expression profiles and DNA methylation patterns. Gross total resection seems curative, with a low recurrence rate. Malignant transformation is rare; however, adjuvant radiation therapy and chemotherapy may be beneficial in selected cases.

Investigation of biological-rhythm patterns: physiological and biochemical effects in herbaceous plants exposed to low-level chronic radiation – part 1: nonirradiated seeds

Hypothesis Because reactive oxygen species are involved in the regulation of biological rhythms, we hypothesized that intra-annual variability of seed progeny quality at low doses of ionizing radiation (LDIRs) would differ from that of background plants. Materials and methods We conducted 12 consecutive experiments using the roll culture method by germinating seeds (monthly for 3 weeks) of six herbaceous plant species (Bromus inermis, Geum aleppicum, Plantago major, Rumex confertus, Silene latifolia, and Taraxacum officinale) growing under conditions of chronic radiation in the East Ural Radioactive Trace (EURT). We assessed physiological (seed viability and abnormality frequency) and biochemical (low-molecular-weight antioxidants, LMWAs) parameters of seedlings. Results Total absorbed dose rates of maternal plants (TADRplants) and seed embryos (TADRseeds) in the EURT exceeded background levels by 1–3 and 1–2 orders of magnitude, respectively. Nonlinear dependencies on TADR were mainly characteristic of physiological and biochemical parameters. For most populations of the studied species (B. inermis, G. aleppicum, R. confertus, and S. latifolia), seedling survival and root length decreased in the autumn–winter period, while the frequency of abnormal seedlings increased. The content of LMWAs could be ranked as R. confertus > B. inermis > G. aleppicum > S. latifolia, in good agreement with the presence of anthocyanin pigmentation in the plants. The lowest synthesis of antioxidants in seedlings was observed in winter. A high LMWA content promoted growth and reduced the frequency of abnormal seedlings. Conclusions These results underscore a multistage nature of the impact of LDIRs on intra-annual biological rhythms in plants. High heterogeneity in reference group ‘wild grasses’ and diversity of their radiobiological effects should help to develop methods of radiation protection for natural ecosystems and facilitate approaches used by the International Commission on Radiological Protection. Highlights Absorbed dose rates for six plant species in the East Ural Radioactive Trace (EURT) area range from 0.11 to 73.89 µGy h−s (plants) and 0.11 to 6.88 µGy h−s (seed embryos). Intra-annual rhythms of physiological and biochemical parameters in the EURT zone differ from those in background seedlings. Plants in the EURT area exhibit a wide range of trait variability, asynchrony of the manifestation of the effects, nonlinear dose–response relations, and hormesis. A high content of low-molecular-weight antioxidants (LMWAs) is associated with low frequency of developmental abnormalities and high viability of seed progeny.