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1.
J Infect Public Health ; 17(6): 986-993, 2024 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-38631068

RESUMO

Alkhumra hemorrhagic fever virus (AHFV) has spread beyond the Middle East. However, the actual global prevalence of the virus is yet unknown. This systematic review and meta-analysis, thus, followed the standard reporting guidelines to provide comprehensive details on the prevalence of Alkhumra virus infection globally. The pooled prevalence of AHFV globally was estimated at 1.3% (95% CI: 0.3-6.3), with higher prevalence in humans (3.4%, 95% CI: 0.4-25.0) compared to animals (0.7%, 95% CI: 0.3-1.8). The prevalence in ticks and camels were 0.7% and 0.2%, respectively. Overall, there was a high prevalence rate in Asia (2.6%) compared to Africa (0.5%), and a distinctly higher prevalence in Saudi Arabia (4.6%) compared to other parts of the world (<1%). Lower surveillance rate in humans was observed in recent years. These findings will aid public health preparedness, surveillance, and development of preventive measures due to AHFV's potential for outbreaks and severe health consequences.

2.
J Family Med Prim Care ; 13(2): 532-536, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38605766

RESUMO

Background: Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder associated with kidney complications. This study aims to investigate the effects of weekly subcutaneous semaglutide, a GLP-1 agonist, on kidney outcomes. Methods: This retrospective cohort study was conducted in nephrology and endocrinology clinics at KFAFH from March 2022 to February 2023. The sample size was determined based on hospital records, and randomly selected patients who met the inclusion criteria were included. The inclusion criteria included adults with T2DM who were on weekly subcutaneous semaglutide for 6 months or longer. Patients with type 1 diabetes mellitus, pregnant or gestational diabetes patients, individuals who added other antidiabetic medications during the study period, and participants who refused to be involved were excluded from the study. Results: The study included participants aged between 42 and 85 years, with a mean age of 65.38 years, and the majority (58.7%) were males. There was a significant weight and BMI reduction observed in all patients, with P values <0.001 for both. The average weight reduction was 2.97 kg (SD = 2.34, 95% CI 1.65-3.30), and the average Body (BMI) reduction was 1.16 (SD = 0.91, 95% CI 1.03-1.29). A vast majority of participants (98.5%) reported a weight loss of at least 1 kg, and 13.8% of participants experienced a change in BMI category from higher to lower. No patients reported an increase in the BMI category. There was a significant reduction in glycohemoglobin (HbA1c) measurements from 9.18 pretreatment to 8.13 posttreatment, with an average reduction of 1.05 units (SD = 1.84, 95% CI 0.79-1.31). The majority of participants (70.9%) reported a reduction in HbA1c of at least 0.1 unit. Although there was a slight decrease in estimated glomerular filtration rate (eGFR) values on average (1.35 units), the change was not statistically significant (P = 0.059). More than half of the participants (51.5%) reported an increase in eGFR, 45.4% reported a decrease, and 3.1% reported no change. There was a statistically significant reduction in urinary albumin-to-creatinine ratio (UACR) values from a median of 5.97 pretreatment to a median of 5.60 post-treatment. The median decrease was 0.72 units, with one-third (33.3%) reporting an increase and two-thirds (66.7%) reporting a decrease in values. The correlation analysis revealed no significant association between the total quantity of semaglutide taken and the magnitude of changes. Conclusion: Our study on the impact of weekly semaglutide in adults with T2DM reveals positive effects on kidney outcomes, including weight loss, glycemic control and improved urine albumin creatine ratio, and a reduced risk of nephropathy. These findings highlight the potential of semaglutide as a safe and effective treatment option for improving renal health in individuals with T2DM.

3.
Phys Rev Lett ; 132(13): 131802, 2024 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-38613283

RESUMO

This Letter presents the first study of Higgs boson production in association with a vector boson (V=W or Z) in the fully hadronic qqbb final state using data recorded by the ATLAS detector at the LHC in proton-proton collisions at sqrt[s]=13 TeV and corresponding to an integrated luminosity of 137 fb^{-1}. The vector bosons and Higgs bosons are each reconstructed as large-radius jets and tagged using jet substructure techniques. Dedicated tagging algorithms exploiting b-tagging properties are used to identify jets consistent with Higgs bosons decaying into bb[over ¯]. Dominant backgrounds from multijet production are determined directly from the data, and a likelihood fit to the jet mass distribution of Higgs boson candidates is used to extract the number of signal events. The VH production cross section is measured inclusively and differentially in several ranges of Higgs boson transverse momentum: 250-450, 450-650, and greater than 650 GeV. The inclusive signal yield relative to the standard model expectation is observed to be µ=1.4_{-0.9}^{+1.0} and the corresponding cross section is 3.1±1.3(stat)_{-1.4}^{+1.8}(syst) pb.

4.
Case Rep Genet ; 2024: 3561555, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38558875

RESUMO

Hyperphosphatasia with mental disorder (HPMRS) is a rare autosomal recessive disease caused by gene mutations in enzymes involved in the synthesis and remodeling of lipids. Seven-month-old boy diagnosed with bilateral glaucoma had a cleft palate, facial dysmorphism, hypertelorism, a broad nasal bridge, and large fleshy earlobes. A brain MRI scan also revealed brain abnormalities. The observed phenotype in a seven-month-old boy is in agreement with the phenotypic features of HPRMS type-4. Whole exome sequencing revealed a possible pathogenic variant of PGAP3 in a homozygous state (c.320C > T, p.Ser107Leu) which supported the diagnosis of HPRMS type-4. We report an unusual presentation for HPMRS and suggest adding this syndrome to the list of differential diagnoses of syndromic congenital glaucoma.

5.
Toxicol Res (Camb) ; 13(2): tfae048, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38559756

RESUMO

Acute anticholinesterase pesticide poisoning is a serious clinical problem, particularly in developing countries. Atropine is the most acceptable treatment for acute anticholinesterase poisoning. However, it only stops fluid production. Albuterol is a beta-2 receptor agonist that can increase fluid removal and speed the return of effective oxygen exchange. This study aims to evaluate the safety and efficacy of nebulized albuterol as an adjuvant therapy in patients with acute anticholinesterase poisoning. This stratified block randomized, single-blinded, placebo-controlled, parallel-group clinical trial was conducted between November 2020 and October 2021. It enrolled 80 patients with acute anticholinesterase pesticide poisoning who were admitted to Tanta University Poison Control Center. Patients were allocated into two groups (40 patients each). The strata were based on the severity of poisoning (moderate and severe). Patients in group I received 10 mg of nebulized albuterol. Group II received an equivalent volume of nebulized normal saline. Additionally, standard treatment was provided to both groups. Outcomes included oxygenation, mortality, need for endotracheal intubation and mechanical ventilation, hospital stay duration, time to atropinization, and total doses of atropine and oxime. We found insignificant differences in sociodemographics, exposure characteristics, clinical manifestations, or routine laboratory tests between the studied groups. The median values of oxygen saturation by pulse oximetry were 99% in the albuterol moderate toxicity group and 98% in the control moderate toxicity group. Albuterol significantly improved oxygen saturation in moderate intoxicated patients (P = 0.039). Therefore, nebulized albuterol is a safe drug. Moreover, it may improve oxygenation in acute anticholinesterase pesticide poisoning.

6.
Heliyon ; 10(7): e27381, 2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38560257

RESUMO

Tetraalkylammonium salt (TAS) is an organic salt widely employed as a precursor, additive or electrolyte in solar cell applications, such as perovskite or dye-sensitized solar cells. Notably, Perovskite solar cells (PSCs) have garnered acclaim for their exceptional efficiency. However, PSCs have been associated with environmental and health concerns due to the presence of lead (Pb) content, the use of hazardous solvents, and the incorporation of TAS in their fabrication processes, which significantly contributes to environmental and human health toxicity. As a response, there is a growing trend towards transitioning to safer and biobased materials in PSC fabrication to address these concerns. However, the potential health hazards associated with TAS necessitate a thorough evaluation, considering the widespread use of this substance. Nevertheless, the overexploitation of TAS could potentially increase the disposal of TAS in the ecosystem, thus, posing a major health risk and severe pollution. Therefore, this review article presents a comprehensive discussion on the in vitro and in vivo toxicity assays of TAS as a potential material in solar energy applications, including cytotoxicity, genotoxicity, in vivo dermal, and systemic toxicity. In addition, this review emphasizes the toxicity of TAS compounds, particularly the linear tetraalkyl chain structures, and summarizes essential findings from past studies as a point of reference for the development of non-toxic and environmentally friendly TAS derivatives in future studies. The effects of the TAS alkyl chain length, polar head and hydrophobicity, cation and anion, and other properties are also included in this review.

7.
Front Plant Sci ; 15: 1385768, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38595767

RESUMO

Citrus canker disease affects citrus production. This disease is caused by Xanthomonas citri subsp. citri (Xcc). Previous studies confirmed that during Xcc infection, PthA4, a transcriptional activator like effector (TALE), is translocated from the pathogen to host plant cells. PthA4 binds to the effector binding elements (EBEs) in the promoter region of canker susceptibility gene LOB1 (EBEPthA4-LOBP) to activate its expression and subsequently cause canker symptoms. Previously, the Cas12a/CBE co-editing method was employed to disrupt EBEPthA4-LOBP of pummelo, which is highly homozygous. However, most commercial citrus cultivars are heterozygous hybrids and more difficult to generate homozygous/biallelic mutants. Here, we employed Cas12a/CBE co-editing method to edit EBEPthA4-LOBP of Hamlin (Citrus sinensis), a commercial heterozygous hybrid citrus cultivar grown worldwide. Binary vector GFP-p1380N-ttLbCas12a:LOBP1-mPBE:ALS2:ALS1 was constructed and shown to be functional via Xcc-facilitated agroinfiltration in Hamlin leaves. This construct allows the selection of transgene-free regenerants via GFP, edits ALS to generate chlorsulfuron-resistant regenerants as a selection marker for genome editing resulting from transient expression of the T-DNA via nCas9-mPBE:ALS2:ALS1, and edits gene(s) of interest (i.e., EBEPthA4-LOBP in this study) through ttLbCas12a, thus creating transgene-free citrus. Totally, 77 plantlets were produced. Among them, 8 plantlets were transgenic plants (#HamGFP1 - #HamGFP8), 4 plantlets were transgene-free (#HamNoGFP1 - #HamNoGFP4), and the rest were wild type. Among 4 transgene-free plantlets, three lines (#HamNoGFP1, #HamNoGFP2 and #HamNoGFP3) contained biallelic mutations in EBEpthA4, and one line (#HamNoGFP4) had homozygous mutations in EBEpthA4. We achieved 5.2% transgene-free homozygous/biallelic mutation efficiency for EBEPthA4-LOBP in C. sinensis cv. Hamlin, compared to 1.9% mutation efficiency for pummelo in a previous study. Importantly, the four transgene-free plantlets and 3 transgenic plantlets that survived were resistant against citrus canker. Taken together, Cas12a/CBE co-editing method has been successfully used to generate transgene-free canker-resistant C. sinensis cv. Hamlin in the T0 generation via biallelic/homozygous editing of EBEpthA4 of the canker susceptibility gene LOB1.

8.
Front Aging Neurosci ; 16: 1368517, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38577492

RESUMO

Introduction: As the population over the age of 65 increases, rates of neurodegenerative disorders and dementias will rise - necessitating further research into the cellular and molecular mechanisms that contribute to brain aging. With the critical importance of astrocytes to neuronal health and functioning, we hypothesized that alterations in astrocyte expression of aging-associated markers p16INK4a (p16) and sirtuin 1 (SIRT1) with age would correlate with increased rates of neurodegeneration, as measured by FluoroJade C (FJC) staining. Methods: To test this hypothesis, 19 rhesus macaques at the Tulane National Primate Research Center were selected based on the following criteria: archival FFPE CNS tissue available to use, no noted neuropathology, and an age range of 5-30 years. Tissues were cut at 5 µm and stained for GFAP, p16, SIRT1, and FJC, followed by whole-slide imaging and HALO® image analysis for percentage of marker-positive cells and relative intensity of each stain. Results: We found the percentage of p16+ cells increases with age in total cells and astrocytes of the frontal (p = 0.0021, p = 0.0012 respectively) and temporal (p = 0.0226, p = 0.0203 respectively) lobes, as well as the relative intensity of p16 staining (frontal lobe: p = 0.0060; temporal lobe: p = 0.0269). For SIRT1, we found no correlation with age except for an increase in the relative intensity of SIRT1 in the temporal lobe (p = 0.0033). There was an increase in neurodegeneration, as measured by the percentage of FJC+ cells in the frontal lobe with age (p = 0.0057), as well as in the relative intensity of FJC staining in the frontal (p = 0.0030) and parietal (p = 0.0481) lobes. Importantly, increased p16 and SIRT1 expression in astrocytes correlated with increasing neurodegeneration in the frontal lobe (p = 0.0009, p = 0.0095 respectively). Discussion: Together, these data suggest that age-associated alterations in astrocytes contribute to neurodegeneration and provide a target for mechanistic studies in the future.

9.
Immunity ; 2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38636522

RESUMO

Signaling through Notch receptors intrinsically regulates tumor cell development and growth. Here, we studied the role of the Notch ligand Jagged2 on immune evasion in non-small cell lung cancer (NSCLC). Higher expression of JAG2 in NSCLC negatively correlated with survival. In NSCLC pre-clinical models, deletion of Jag2, but not Jag1, in cancer cells attenuated tumor growth and activated protective anti-tumor T cell responses. Jag2-/- lung tumors exhibited higher frequencies of macrophages that expressed immunostimulatory mediators and triggered T cell-dependent anti-tumor immunity. Mechanistically, Jag2 ablation promoted Nr4a-mediated induction of Notch ligands DLL1/4 on cancer cells. DLL1/4-initiated Notch1/2 signaling in macrophages induced the expression of transcription factor IRF4 and macrophage immunostimulatory functionality. IRF4 expression was required for the anti-tumor effects of Jag2 deletion in lung tumors. Antibody targeting of Jagged2 inhibited tumor growth and activated IRF4-driven macrophage-mediated anti-tumor immunity. Thus, Jagged2 orchestrates immunosuppressive systems in NSCLC that can be overcome to incite macrophage-mediated anti-tumor immunity.

10.
Heliyon ; 10(7): e28869, 2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38601648

RESUMO

Objectives: Predicting stroke mortality is crucial for personalized care. This study aims to design and evaluate a machine learning model to predict one-year mortality after a stroke. Materials and methods: Data from the National Multiethnic Stroke Registry was utilized. Eight machine learning (ML) models were trained and evaluated using various metrics. SHapley Additive exPlanations (SHAP) analysis was used to identify the influential predictors. Results: The final analysis included 9840 patients diagnosed with stroke were included in the study. The XGBoost algorithm exhibited optimal performance with high accuracy (94.5%) and AUC (87.3%). Core predictors encompassed National Institutes of Health Stroke Scale (NIHSS) at admission, age, hospital length of stay, mode of arrival, heart rate, and blood pressure. Increased NIHSS, age, and longer stay correlated with higher mortality. Ambulance arrival and lower diastolic blood pressure and lower body mass index predicted poorer outcomes. Conclusions: This model's predictive capacity emphasizes the significance of NIHSS, age, hospital stay, arrival mode, heart rate, blood pressure, and BMI in stroke mortality prediction. Specific findings suggest avenues for data quality enhancement, registry expansion, and real-world validation. The study underscores machine learning's potential for early mortality prediction, improving risk assessment, and personalized care. The potential transformation of care delivery through robust ML predictive tools for Stroke outcomes could revolutionize patient care, allowing for personalized plans and improved preventive strategies for stroke patients. However, it is imperative to conduct prospective validation to evaluate its practical clinical effectiveness and ensure its successful adoption across various healthcare environments.

11.
Cureus ; 16(3): e56725, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38646214

RESUMO

BACKGROUND: As the surgical burden grows, increasing patient safety during anesthesia and surgery becomes a major global public health priority. Anesthesia can be safely administered in higher-income countries, yet it is more challenging in third-world countries. This study focuses on Sudan, a third-world country, and its unmet anesthetic needs before the current war and how these needs might compromise the post-war status. AIM: The aim of this study is to compare Sudan's outstanding anesthesia requirements to the World Health Organization's safe anesthesia practice standards in terms of workforce, medications, equipment, and anesthesia conduct. METHODS: This study was carried out in four hospitals (Wad Medani Teaching Hospital, Wad Medani Maternity Hospital, Gezira Centre for Renal and Urological Surgeries, and the National Centre for Pediatric Surgeries) in Wad Medani, two of which were referral and two were state-run. Each hospital from every category was identified using a convenience sampling technique. The World Health Organization-World Federation of Societies of Anesthesiologists International Standard and earlier regional African publications were used to determine the minimum predicted safe anesthesia needs. RESULTS: The results of our study demonstrate that overall, the hospitals surveyed fulfilled the minimum standards set by the World Health Organization and the World Federation of Societies of Anesthesiologists (WHO-WFSA) for safe anesthesia practice by 73% with no significant difference in the safety of anesthesia practice between state and referral hospitals. CONCLUSIONS: The state of safe anesthesia care in Wad Medani hospitals surveyed fell well short of the expected minimal criteria due to important requirements such as patient monitoring indicators, the inaccessibility of life-saving facilities such as defibrillators, and difficult intubation instruments. More importantly, the conduct of anesthesia was far below the standard.

12.
Nurs Open ; 11(3): e2120, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38511562

RESUMO

AIM: The study aimed to provide a comprehensive concept analysis of nursing privileges by elucidating its meaning and implications within the healthcare context. DESIGN: A concept analysis paper. METHODS: A comprehensive literature review was conducted from nursing and healthcare databases, professional nursing organizations, and regulatory bodies. Documents reviewed include research studies, policy documents and professional guidelines. The study employed Walker and Avant's eight-step method of concept analysis. This involved identifying the uses of the concept, its underlying attributes and referents, and constructing model, borderline, related and contrary cases. The antecedents, consequences and empirical referents of nursing privileges were also determined. RESULTS: The analysis uncovered vital attributes defining nursing privileges, encompassing professional authority, autonomy, access to resources, information, influence, decision-making power, respect and recognition. Additionally, antecedents and consequences of nursing privilege were identified, spanning development and resource access, as well as professional satisfaction and enhanced patient care. PATIENT OR PUBLIC CONTRIBUTION: No patient or public contribution.


Assuntos
Atitude do Pessoal de Saúde , Formação de Conceito , Humanos
13.
Cancer J ; 30(2): 54-70, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38527258

RESUMO

ABSTRACT: Patients with stage III resectable melanoma carry a high risk of melanoma recurrence that ranges from approximately 40% to 90% at 5 years following surgical management alone. Postoperative systemic adjuvant therapy targets residual micrometastatic disease that could be the source of future recurrence and death from melanoma. Randomized phase III adjuvant trials reported significant improvements in overall survival with high-dose interferon α in 2 of 3 studies (compared with observation and GMK ganglioside vaccine) and with anti-cytotoxic T-lymphocyte antigen 4 ipilimumab at 10 mg/kg compared with placebo and ipilimumab 3 mg/kg compared with high-dose interferon α. In the modern era, more recent phase III trials demonstrated significant recurrence-free survival improvements with anti-programmed cell death protein 1, pembrolizumab, and BRAF-MEK inhibitor combination dabrafenib-trametinib (for BRAF mutant melanoma) versus placebo. Furthermore, anti-programmed cell death protein 1, nivolumab and pembrolizumab have both been shown to significantly improve recurrence-free survival as compared with ipilimumab 10 mg/kg. For melanoma patients with clinically or radiologically detectable locoregionally advanced disease, emerging data support an important role for preoperative systemic neoadjuvant therapy. Importantly, a recent cooperative group trial (S1801) reported superior event-free survival rates with neoadjuvant versus adjuvant therapy. Collectively, current data from neoadjuvant immunotherapy and targeted therapy trials support a future change in clinical practice in favor of neoadjuvant therapy for eligible melanoma patients.


Assuntos
Melanoma , Neoplasias Cutâneas , Humanos , Melanoma/tratamento farmacológico , Terapia Neoadjuvante , Ipilimumab/uso terapêutico , Proteínas Proto-Oncogênicas B-raf/uso terapêutico , Estadiamento de Neoplasias , Neoplasias Cutâneas/tratamento farmacológico , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgia , Interferon-alfa/uso terapêutico
14.
Sultan Qaboos Univ Med J ; 24(1): 91-98, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38434463

RESUMO

Objectives: Breast milk is the best baby food because it contains various nutrients and important factors for the baby's immune system, including leukocytes. This study aimed to determine the effects on morphology, number of cells and breast milk leukocytes count of various ways of storing breast milk based on different temperatures and storage durations. Methods: This study was conducted at the Biochemistry Laboratory, Integrated Laboratory and the Histology Laboratory, Universitas Indonesia, Jakarta, Indonesia from September 2022 to February 2023. Transitional breast milk samples from 7 breastfeeding mothers were utilised in the study. A total of 50 mL was divided into 4 tubes of 12.5 mL each and treated based on temperature, storage time and method of thawing frozen breast milk based on the Centers for Disease Control and Prevention's (CDC) recommendations for breast milk storage. The breast milk cells were isolated to calculate the cell number and leukocyte population. Subsequently, the breast milk cells were stained with haematoxylin and eosin to analyse the number and morphology of leukocytes. Results: The findings showed a significant decrease in the breast milk's total number and population and changes in the morphology of breast milk leukocytes after storage. Conclusion: This study indicates that CDC storage recommendations do not affect the quantity of the CD45+ leukocyte population; however, there is a decrease in the total number of leukocytes and alterations in their microscopic morphology. Thus, additional research is recommended to determine whether these modifications influence the function of the breast milk cells.


Assuntos
Leucócitos , Leite Humano , Estados Unidos , Feminino , Humanos , Mama , Amarelo de Eosina-(YS) , Indonésia
15.
Phys Rev Lett ; 132(10): 102301, 2024 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-38518341

RESUMO

ATLAS measured the centrality dependence of the dijet yield using 165 nb^{-1} of p+Pb data collected at sqrt[s_{NN}]=8.16 TeV in 2016. The event centrality, which reflects the p+Pb impact parameter, is characterized by the total transverse energy registered in the Pb-going side of the forward calorimeter. The central-to-peripheral ratio of the scaled dijet yields, R_{CP}, is evaluated, and the results are presented as a function of variables that reflect the kinematics of the initial hard parton scattering process. The R_{CP} shows a scaling with the Bjorken x of the parton originating from the proton, x_{p}, while no such trend is observed as a function of x_{Pb}. This analysis provides unique input to understanding the role of small proton spatial configurations in p+Pb collisions by covering parton momentum fractions from the valence region down to x_{p}∼10^{-3} and x_{Pb}∼4×10^{-4}.

16.
Int Med Case Rep J ; 17: 209-214, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38550721

RESUMO

Jeune syndrome, or asphyxiating thoracic dystrophy (JATD), is a rare autosomal recessive skeletal dysplasia with heterogeneous genetic and clinical phenotypes, which primarily affects cartilage and bone development. Herein, we report a patient with a lethal form of SRTD3 without polydactyly (JATD), which led to severe restrictive lung disease and fatal respiratory failure. A full-term boy was born to a 30-year-old mother who was known to have hypothyroidism and was on thyroxine. The parents were first-degree cousins and had one healthy older son. Fetal ultrasound showed a cephalic fetus, normal amniotic fluid and a fundal placenta. All long bones and ribs were below the 1% percentile. The femur was bowed with no fractures or signs of significant demineralization at time of imaging. Head and abdominal circumference were within normal range. An echocardiogram on the 2nd day of life showed severe pulmonary hypertension (PHTN). Nitric oxide was started due to the presence of persistent hypoxia and severe PHTN. The patient continued to require high cardiorespiratory support, but the medical condition worsened, and respiratory failure persisted. The patient died of severe respiratory failure at 16 days of life due to respiratory insufficiency secondary to a severely restricted thoracic cage. Whole-exome sequencing (WES) revealed a homozygous mutation in the DYNC2H1 (NM_001377.3) gene, namely, the c.9041G>T NP_001368.2: p.(Arg3014Ile) missense variant, which results in the substitution of the arginine codon at amino acid position 3014 with an isoleucine codon. The phenotyping of the patient's JATD and the detection of a homozygous variant in the DYNC2H1 gene confirmed the diagnosis of short-rib thoracic dysplasia-3 without polydactyly. In summary, the patient had isolated skeletal anomalies without polydactyly or other organ involvement. Additionally, the infant had severe PHTN on top of the respiratory failure, which eventually caused death. Considerably more work will need to be done to determine the clinical spectrum of JATD and understand its genetic heterogeneity.

17.
Vision (Basel) ; 8(1)2024 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-38535758

RESUMO

Astigmatism management is a frequently encountered challenge in the world of modern cataract surgery. This review article investigates the importance of astigmatic correction and seeks to uncover the critical components of preoperative evaluation. With the rapid growth of new technologies and techniques, this article aims to also catalogue and clarify the multitude of astigmatism treatment options available for the cataract surgeon.

18.
Med J Malaysia ; 79(Suppl 1): 140-147, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38555899

RESUMO

INTRODUCTION: Vision screening has been initiated to detect potential vision problems, paving referral pathways towards a full eye examination. Time-cost-labour practicality challenges of equipment-based vision screening have lingered for decades. Going for the highest sensitivity and specificity or opting for a pragmatic and affordable vision screening program remains a dilemma in public eye health. We aimed to report the development of a new online and equipment-free vision screening called Eye: Questionnairebased Vision Screening (EyeQVS). We also analysed the visual profile of Orang Bateq resided in a remote locality, using findings from EyeQVS, single test vision screening and full eye examination. MATERIALS AND METHODS: Multi-perspective development strategies were employed in designing EyeQVS. The questionnaire items were constructed using the working backward technique, compiling common vision disorders from the literature and face validation using expert panels. Face validation and usability assessment were performed on EyeQVS. The vision screening was carried out using EyeQVS and single test visual acuity screening method. The full eye examination included visual acuity, refraction, binocular vision and ocular health assessment. The visual profile of indigenous people (Orang Bateq) at Kampung Bengoi and Kampung Atok, Jerantut, Pahang was analysed using EyeQVS, single test visual acuity screening method and full eye examination. RESULTS: The performance of EyeQVS was affirmative in both face validation and usability. About 95% of Orang Bateq failed full eye examination, while 55% failed EyeQVS screening. None of them failed single test vision screening. Binocular disorders and dry eye problems were commonly found in Orang Bateq. EyeQVS unearthed more various vision problems compared to the single test vision screening (visual acuity alone) as a screening tool in a remote location. CONCLUSION: EyeQVS can screen for binocular disorders and dry eyes problem commonly found among indigenous people, which might be missed using a single-test visual acuity screening approach. EyeQVS is a practical alternative for vision screening in places where financial or location hinders eye healthcare access.


Assuntos
Seleção Visual , Humanos , Seleção Visual/métodos , Interface Usuário-Computador , Transtornos da Visão , Acuidade Visual , Programas de Rastreamento
19.
Materials (Basel) ; 17(6)2024 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-38541565

RESUMO

The study aimed to assess the marginal, axial, and internal adaptation, as well as the fracture resistance of zirconia-reinforced lithium silicate (ZLS) endocrowns with varying pulpal inlay extensions and marginal geometry. Sixty extracted maxillary first molar teeth were divided into six groups (n = 10) according to pulpal inlay extension and marginal configuration. The first three groups (J2, J3, and J4) utilized prepared teeth for endocrowns without ferrule design and 2 mm, 3 mm, and 4 mm pulpal extensions, respectively. The second three groups (F2, F3, and F4) utilized prepared teeth with 1 mm shoulder margins and 2 mm, 3 mm, and 4 mm pulpal extensions. The endocrowns were fabricated from ZLS blocks using CAD/CAM milling technology. After cementation, the specimens underwent thermal aging for 5000 cycles and were evaluated for marginal adaptation. Using a universal testing machine, the fracture resistance was tested under quasistatic loading (1 mm/min). Two-way ANOVA and the Tukey's post hoc test were employed for data analysis (p ≤ 0.05). The results of this study revealed that endocrowns without ferrule exhibited superior fracture strength than a 1 mm ferrule design p < 0.05, irrespective of the inlay depth. All designs with and without ferrule and all inlay depths showed clinically acceptable marginal and internal fit. The conventional endocrown design without ferrule and 2 mm inlay depth showed the lowest surface gap. The pulpal surface showed the highest discrepancy among all groups compared to the other surfaces. Endocrowns without ferrule are more conservative and have higher fracture strength than 1 mm ferrule designs; extending the inlay depth showed a significant increase in fracture resistance of the 1 mm ferrule design, but not for the conventional design without ferrule and 2 mm inlay depth. All groups exhibited a high auspicious fracture strength value for molar endocrown restorations.

20.
Rheumatol Int ; 44(5): 943-953, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38512478

RESUMO

Aplastic anemia (AA) is a rare, potentially catastrophic hematopoiesis failure manifested by pancytopenia and bone marrow aplasia. AA occurrence in Systemic Lupus Erythematosus (SLE) patients is extremely rare. The diagnosis may be delayed due to other possible pancytopenia etiologies. Confirmation of peripheral cytopenias diagnosis necessitates a bone marrow aspiration. The management of AA is challenging, and the literature reported using glucocorticoids, danazol, plasmapheresis, cyclophosphamide, intravenous immunoglobulin, and cyclosporine. We report two cases of SLE patients who presented with pancytopenia, with bone marrow biopsy confirmed AA. One case was treated with cyclophosphamide but unfortunately succumbed to Acute Respiratory Distress Syndrome (ARDS), while the other case was managed with rituximab with a good response. Interestingly, both patients were on azathioprine before the diagnosis of AA. A comprehensive search for reported cases of AA in PubMed, Scopus, and the Directory of Open Access Journals databases was performed to enhance the understanding of the diagnostic and management challenges associated with AA in SLE, facilitating ongoing exploration and research in this field. The decision to do a BM aspiration and biopsy is recommended for SLE patients with an abrupt decline in blood counts and previously stable blood counts.


Assuntos
Anemia Aplástica , Lúpus Eritematoso Sistêmico , Pancitopenia , Humanos , Anemia Aplástica/complicações , Anemia Aplástica/diagnóstico , Pancitopenia/terapia , Pancitopenia/complicações , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Ciclosporina , Ciclofosfamida
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