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Revue Des Maladies Respiratoires Apr 2024Down syndrome (DS), or trisomy 21, is a genetic disorder caused by the presence of an extra copy of chromosome 21, leading to various characteristic physical features as...
Down syndrome (DS), or trisomy 21, is a genetic disorder caused by the presence of an extra copy of chromosome 21, leading to various characteristic physical features as well as developmental and cognitive delays. Obstructive sleep apnea syndrome (OSAS) is a common disorder in both adult and pediatric patients with DS. Several characteristics of DS may contribute to the development or worsening of OSAS. Numerous murine models of DS exist. A number of studies have explored apneas and the risk of upper airway obstruction in these models, but up until now, only in adulthood.
Topics: Adult; Humans; Animals; Child; Mice; Down Syndrome; Disease Models, Animal; Sleep Apnea, Obstructive; Continuous Positive Airway Pressure
PubMed: 38461093
DOI: 10.1016/j.rmr.2024.02.010 -
Narra J Dec 2023Congenital heart disease (CHD) is a congenital disorder primarily affecting newborns and children. Children with CHD have a greater risk of experiencing growth delays or...
Congenital heart disease (CHD) is a congenital disorder primarily affecting newborns and children. Children with CHD have a greater risk of experiencing growth delays or disorders compared to healthy children. CHD also affects various aspects of a child's development. The aim of this study was to determine the association of CHD types (cyanotic and acyanotic) with the growth and development status of children. A cross-sectional study was conducted among CHD patients at a national reference hospital in Sumatra, H. Adam Malik General Hospital in Medan, Indonesia. The children's growth status was assessed using the WHO growth chart, and the developmental condition was evaluated through the Denver Developmental Screening Test-II. Chi-squared test and Fisher's exact test were used to assess the association between the type of CHD with growth and development status in children. Using a consecutive sampling method, a total of 53 individuals were included in this study. Almost half of CHD patients (48.1%) were within the age group of 0-2 years and more than half (61.1%) were girls. Acyanotic CHD (74.1%) was more prevalent than cyanotic CHD (25.9%), with ventricular septum defect (VSD) as the most common diagnosis. A total of 37% of children with CHD suffered from malnutrition, whereas the remaining 62.9% had good nutrition. The Denver Developmental Screening Test-II indicated that 81.4% of the children were normal, whereas 18.5% had developmental disorders. Our data suggested a significant association between cyanotic CHD and poor growth status in children based on weight-for-age, weight-for-length, and body mass index (BMI)-for-age. However, there was no association between the type of CHD and developmental status in children. This study highlights that the type of CHD is significantly associated with the growth status of children, but not with their developmental status.
PubMed: 38450335
DOI: 10.52225/narra.v3i3.414 -
Birth Defects Research Mar 2024Body wall anomalies comprise a wide range of malformations. Limb-Body wall complex (LBWC) represents the most severe presentation of this group, with life threatening...
INTRODUCTION
Body wall anomalies comprise a wide range of malformations. Limb-Body wall complex (LBWC) represents the most severe presentation of this group, with life threatening malformations in practically all the cases, including craniofacial, body wall defects, and limb anomalies. There is no consensus about its etiology and folding and gastrulation defects have been involved. Also, impaired angiogenesis has been proposed as a causative process.
CASE REPORT
We present the case of a masculine stillborn, product of the first pregnancy in a 15-year-old, apparently healthy mother. He was delivered at 31 weeks of gestation due to an early rupture of membranes. He presented with multiple malformations including a wide body wall defect with multiple organ herniation and meromelia of the lower right limb.
DISCUSSION AND CONCLUSIONS
LBWC represents a severe and invariably fatal pathology. There are no described risk factors, nevertheless, this case presented in a teenage mother, a well-described risk factor for other body wall anomalies. Its diagnosis allows us to discriminate between other pathologies that require prenatal or postnatal specialized treatment.
Topics: Male; Female; Pregnancy; Adolescent; Humans; Abnormalities, Multiple; Gastrulation; Gravidity; Limb Deformities, Congenital; Mothers
PubMed: 38441368
DOI: 10.1002/bdr2.2322 -
Scientific Reports Mar 2024Although medial temporal atrophy (MTA) and parietal atrophy (Koedam score) have been used to diagnose Alzheimer's disease (AD), early detection of other dementia types...
Although medial temporal atrophy (MTA) and parietal atrophy (Koedam score) have been used to diagnose Alzheimer's disease (AD), early detection of other dementia types remains elusive. The study aims to investigate the association between these brain imaging markers and cognitive function in dementia. This cross-sectional study collected data from the Memory Clinic of Dr. Sardjito General Hospital Yogyakarta, Indonesia from January 2020 until December 2022. The cut-off value of MTA and Koedam score was set with Receiver Operating Curve. Multivariate analysis was performed to investigate the association between MTA and Koedam score with cognitive function. Of 61 patients, 22.95% had probable AD, 59.01% vascular dementia, and 18.03% mixed dementia. Correlation test showed that MTA and Koedam score were negatively associated with Montreal Cognitive Assessment-Indonesian Version (MoCA-INA) score. MTA score ≥ 3 (AUC 0.69) and Koedam score ≥ 2 (AUC 0.67) were independently associated with higher risk of poor cognitive function (OR 13.54, 95% CI 1.77-103.43, p = 0.01 and OR 5.52, 95% CI 1.08-28.19, p = 0.04). Higher MTA and Koedam score indicate worse cognitive function in dementia. Future study is needed to delineate these findings as prognostic markers of dementia severity.
Topics: Humans; Cross-Sectional Studies; Cognition; Brain; Alzheimer Disease; Atrophy
PubMed: 38438548
DOI: 10.1038/s41598-024-56023-3 -
Analytica Chimica Acta Apr 2024Bacterial infections, especially polymicrobial infections, remain a threat to global health and require advances in diagnostic technologies for timely and accurate...
BACKGROUND
Bacterial infections, especially polymicrobial infections, remain a threat to global health and require advances in diagnostic technologies for timely and accurate identification of all causative species. Digital melt - microfluidic chip-based digital PCR combined with high resolution melt (HRM) - is an emerging method for identification and quantification of polymicrobial bacterial infections. Despite advances in recent years, existing digital melt instrumentation often delivers nonuniform temperatures across digital chips, resulting in nonuniform digital melt curves for individual bacterial species. This nonuniformity can lead to inaccurate species identification and reduce the capacity for differentiating bacterial species with similar digital melt curves.
RESULTS
We introduce herein a new temperature calibration method for digital melt by incorporating an unamplified, synthetic DNA fragment with a known melting temperature as a calibrator. When added at a tuned concentration to an established digital melt assay amplifying the commonly targeted 16S V1 - V6 region, this calibrator produced visible low temperature calibrator melt curves across-chip along with the target bacterial melt curves. This enables alignment of the bacterial melt curves and correction of heating-induced nonuniformities. Using this calibration method, we were able to improve the uniformity of digital melt curves from three causative species of bacteria. Additionally, we assessed calibration's effects on identification accuracy by performing machine learning identification of three polymicrobial mixtures comprised of two bacteria with similar digital melt curves in different ratios. Calibration greatly improved mixture composition prediction.
SIGNIFICANCE
To the best of our knowledge, this work represents the first DNA calibrator-supplemented assay and calibration method for nanoarray digital melt. Our results suggest that this calibration method can be flexibly used to improve identification accuracy and reduce melt curve variabilities across a variety of pathogens and assays. Therefore, this calibration method has the potential to elevate the diagnostic capabilities of digital melt toward polymicrobial bacterial infections and other infectious diseases.
Topics: Humans; Oligonucleotides; Calibration; Temperature; Bacterial Infections; DNA
PubMed: 38438240
DOI: 10.1016/j.aca.2024.342371 -
F1000Research 2023is well known to cause a multitude of clinical manifestations, from mild to severe bloodstream infections that could lead to death. Infections are common, either in... (Observational Study)
Observational Study
Prevalence of Panton-Valentine leucocidin ( ) and exfoliative toxin A ( ) gene within methicillin resistant and susceptible in an urban tertiary hospital: A molecular epidemiology pilot study.
BACKGROUND
is well known to cause a multitude of clinical manifestations, from mild to severe bloodstream infections that could lead to death. Infections are common, either in community-acquired or hospital-acquired settings, and treatment remains a challenge due to methicillin-resistant (MRSA). The pathogenesis of is mediated by several cell-surface and secreted virulence factors. The virulence factors discussed in this study are Panton-Valentine leucocidin ( ) and exfoliative toxin A ( ). Identifying both and gene may help in studying bacterial pathogenesis and biology thus creating possible therapeutic pathway or intervention.Our pilot study aimed to observe and as virulence gene prevalence in a North Sumatera tertiary referral health center.
METHODS
Our study was a descriptive-analytical observational study with a cross-sectional design in which we collected isolates over a single time period. The frequency of genes is reported as a percentage comparison between MRSA and methicillin-susceptible (MSSA). Qualitative gene prevalence analysis was carried out using the polymerase chain reaction (PCR).
RESULTS
Our results showed that from 38 MRSA sample isolates, 32 samples were found to be -positive, or 84,3% of the total samples. From 40 MSSA sample isolates, one sample was found to be -positive MSSA, or 97,5%. Regarding , from 38 MRSA sample isolates, 81,6% of the total sample did not have , while from 40 MSSA sample isolates, all samples were found to be positive for . We found that both and were significantly more likely to be expressed in the MSSA strain.
CONCLUSIONS
Our study shows that and are more likely expressed in MSSA strains than in MRSA strains in Indonesia.
Topics: Humans; Staphylococcus aureus; Methicillin-Resistant Staphylococcus aureus; Methicillin Resistance; Pilot Projects; Exfoliatins; Molecular Epidemiology; Tertiary Care Centers; Leukocidins; Prevalence; Cross-Sectional Studies; Staphylococcal Infections; Methicillin; Virulence Factors; Disease Susceptibility
PubMed: 38434669
DOI: 10.12688/f1000research.134641.2 -
Journal of Cellular Physiology Mar 2024Retraction: "Mesoglycan exerts its fibrinolytic effect through the activation of annexin A2" by Raffaella Belvedere, Elva Morretta, Emanuela Pessolano, Nunzia Novizio,...
Retraction: "Mesoglycan exerts its fibrinolytic effect through the activation of annexin A2" by Raffaella Belvedere, Elva Morretta, Emanuela Pessolano, Nunzia Novizio, Alessandra Tosco, Amalia Porta, James Whiteford, Mauro Perretti, Amelia Filippelli, Maria Chiara Monti, Antonello Petrella, J Cell Physiol. 2020, 236: 4926-4943. The above article, published online on 7 December 2020 in Wiley Online Library (https://onlinelibrary.wiley.com/doi/full/10.1002/jcp.30207) has been retracted by agreement between the journal's Editor in Chief, Alexander Hutchison, and Wiley Periodicals LLC. The retraction has been agreed due to concerns raised by third parties. Some flaws and inconsistencies between results presented and experimental methods described were found. Specifically, manipulations have been detected affecting the Western Blot experiment presented in Figure 3a, and the microscopy images presented in Figure 5 and Figure S7. The corresponding author, Antonello Petrella, acknowledged not having noticed the anomalies at earlier stages and collaborated with the investigation. The original experimental data related to the concerns identified were no longer available; the authors have performed new Western Blot experiments. However, based on the editorial evaluation, the provided material failed to adequately address the concerns. For instance, the data intended to replicate the findings in Figure 3a were provided at a quality too low to ensure its accuracy. Furthermore, the concerns regarding the manipulation of microscopy images in Figure 5 and Figure S7 remained entirely unaddressed. Accordingly, the editors no longer have confidence in the integrity of the data presented in the article and consider the conclusions to be invalid. Antonello Petrella, on behalf of all authors, believes that the conclusions of the article are not affected by the identified issues, in part also corroborated by the new data; all authors disagree with the decision to retract the article.
PubMed: 38426577
DOI: 10.1002/jcp.31233 -
American Journal of Critical Care : An... Mar 2024Recent data indicate that end-of-life management for patients affected by acute decompensated heart failure in cardiac intensive care units is aggressive, with late or...
BACKGROUND
Recent data indicate that end-of-life management for patients affected by acute decompensated heart failure in cardiac intensive care units is aggressive, with late or no engagement of palliative care teams.
OBJECTIVE
To assess current palliative care and end-of-life practices in a contemporary Italian multicenter registry of patients with cardiogenic shock due to acute decompensated heart failure.
METHODS
A survey-based approach was used to collect data on palliative care and end-of-life management practices. The AltShock-2 registry enrolled patients with cardiogenic shock from 12 participating centers. A subset of 153 patients with cardiogenic shock due to acute decompensated heart failure enrolled between March 2020 and March 2023 was analyzed, with a focus on early engagement of palliative care teams and deactivation of implantable cardioverter-defibrillators (ICDs).
RESULTS
"Do not resuscitate" orders were documented in patient records in only 5 of 12 centers (42%). Palliative care teams were engaged for 21 of 153 enrolled patients (13.7%). Among the 51 patients with ICDs, 6 of 17 patients who died (35%) had defibrillator deactivation. Of the 17 patients who died, 13 died in the hospital and 4 died within 6 months after discharge; 1 patient had ICD deactivation supported by palliative care services at home.
CONCLUSIONS
Therapy-limiting practices, including ICD deactivation, are not routine in the Italian centers participating in this study. The results emphasize the importance of integrating palliative care as a simultaneous process with intensive care to address the unmet needs of these patients and their families.
Topics: Humans; Palliative Care; Terminal Care; Shock, Cardiogenic; Defibrillators, Implantable; Death; Heart Failure; Intensive Care Units; Italy
PubMed: 38424013
DOI: 10.4037/ajcc2024535 -
Journal of Water and Health Feb 2024This study addresses the limited understanding of factors affecting the efficiency of water treatment plants in reducing trihalomethane (THM) formation through total...
This study addresses the limited understanding of factors affecting the efficiency of water treatment plants in reducing trihalomethane (THM) formation through total organic carbon (TOC) removal, highlighting significant challenges in improving treatment effectiveness. The aim of this study was to examine the influence of water quality on the efficiency of water treatment plants to remove TOC and reduce THM formation. Linear regression and correlation analyses were conducted to examine the relationship between water quality parameters and THM concentrations. The results showed that there was a negative relationship between turbidity, metals, and TOC concentration with TOC removal efficiency. Positive correlations were found between parameters and the formation of THMs in water. Of these parameters, water temperature was observed to have relatively less influence on THM formation. It was observed that seasonal variations in water quality affect the efficiency of TOC removal and THM content in treated water. THM levels in chlorinated water were found to be within the permissible range of the World Health Organization's drinking water quality guidelines. However, it is still important to maintain continuous monitoring and take measures to reduce THMs. The model demonstrated a strong correlation (R = 0.906) between predicted and measured THM values.
Topics: Ethiopia; Water Quality; Trihalomethanes; Carbon; Ectromelia; Tibia
PubMed: 38421628
DOI: 10.2166/wh.2024.276 -
Nature Reviews. Microbiology Apr 2024
PubMed: 38366152
DOI: 10.1038/s41579-024-01024-2