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1.
Genome Biol Evol ; 16(7)2024 Jul 03.
Article in English | MEDLINE | ID: mdl-38946312

ABSTRACT

Recent years have seen a dramatic increase in the number of canine genome assemblies available. Duplications are an important source of evolutionary novelty and are also prone to misassembly. We explored the duplication content of nine canine genome assemblies using both genome self-alignment and read-depth approaches. We find that 8.58% of the genome is duplicated in the canFam4 assembly, derived from the German Shepherd Dog Mischka, including 90.15% of unplaced contigs. Highlighting the continued difficulty in properly assembling duplications, less than half of read-depth and assembly alignment duplications overlap, but the mCanLor1.2 Greenland wolf assembly shows greater concordance. Further study shows the presence of multiple segments that have alignments to four or more duplicate copies. These high-recurrence duplications correspond to gene retrocopies. We identified 3,892 candidate retrocopies from 1,316 parental genes in the canFam4 assembly and find that ∼8.82% of duplicated base pairs involve a retrocopy, confirming this mechanism as a major driver of gene duplication in canines. Similar patterns are found across eight other recent canine genome assemblies, with metrics supporting a greater quality of the PacBio HiFi mCanLor1.2 assembly. Comparison between the wolf and other canine assemblies found that 92% of retrocopy insertions are shared between assemblies. By calculating the number of generations since genome divergence, we estimate that new retrocopy insertions appear, on average, in 1 out of 3,514 births. Our analyses illustrate the impact of retrogene formation on canine genomes and highlight the variable representation of duplicated sequences among recently completed canine assemblies.


Subject(s)
Gene Duplication , Genome , Dogs/genetics , Animals , Genomics , Evolution, Molecular , Retroelements
2.
Childs Nerv Syst ; 2024 Jul 16.
Article in English | MEDLINE | ID: mdl-39012355

ABSTRACT

Rosai-Dorfman disease (RDD) with craniocervical junction involvement is a rare clinical entity. We present herein a case of a pediatric patient with craniocervical junction RDD which was surgically treated. A 10-year-old female with a history of B-cell acute lymphoblastic leukemia (B-ALL) in remission and RDD presented with frontal migraine headaches. She previously had a right posterior chest wall lesion which was biopsy-proven RDD. She was found on imaging to have a dural-based right craniocervical junction lesion. Given her history of B-ALL, after a multidisciplinary discussion, the decision was made to proceed with resection with possible initiation of cobimetinib or clofarabine. The patient underwent a suboccipital craniotomy, C1 laminectomy, and resection of the dural-based lesion. Gross total resection was achieved, and histopathology confirmed the diagnosis of RDD. She was discharged home on postoperative day 4. No recurrence was seen on follow-up imaging at 3 months. We conducted a systematic literature review examining all cases of pediatric intracranial RDD and all cases of craniocervical junction RDD. This represents, to the best of our knowledge, only the second case of pediatric craniocervical junction RDD. Although RDD is often self-limiting, medical treatment is often considered for intracranial disease, but tissue confirmation is necessary. Surgical resection provides histopathologic diagnosis and can sometimes serve as definitive treatment for a particular lesion.

3.
Int J Med Inform ; 190: 105544, 2024 Jul 11.
Article in English | MEDLINE | ID: mdl-39003790

ABSTRACT

OBJECTIVE: To determine the incidence of patients presenting in pain to a large Australian inner-city emergency department (ED) using a clinical text deep learning algorithm. MATERIALS AND METHODS: A fine-tuned, domain-specific, transformer-based clinical text deep learning model was used to interpret free-text nursing assessments in the electronic medical records of 235,789 adult presentations to the ED over a three-year period. The model classified presentations according to whether the patient had pain on arrival at the ED. Interrupted time series analysis was used to determine the incidence of pain in patients on arrival over time. We described the changes in the population characteristics and incidence of patients with pain on arrival occurring with the start of the Covid-19 pandemic. RESULTS: 55.16% (95%CI 54.95%-55.36%) of all patients presenting to this ED had pain on arrival. There were differences in demographics and arrival and departure patterns between patients with and without pain. The Covid-19 pandemic initially precipitated a decrease followed by a sharp, sustained rise in pain on arrival, with concurrent changes to the population arriving in pain and their treatment. DISCUSSION: Applying a clinical text deep learning model has successfully identified the incidence of pain on arrival. It represents an automated, reproducible mechanism to identify pain from routinely collected medical records. The description of this population and their treatment forms the basis of intervention to improve care for patients with pain. The combination of the clinical text deep learning models and interrupted time series analysis has reported on the effects of the Covid-19 pandemic on pain care in the ED, outlining a methodology to assess the impact of significant events or interventions on pain care in the ED. CONCLUSION: Applying a novel deep learning approach to identifying pain guides methodological approaches to evaluating pain care interventions in the ED, giving previously unavailable population-level insights.

4.
Aust Health Rev ; 2024 Jul 15.
Article in English | MEDLINE | ID: mdl-39004429

ABSTRACT

Antimicrobial resistance (AMR) is a global pandemic, however, estimating its burden is a complex process. As a result, many countries rely on global estimates to infer burden within their own setting. With a growing number of recent publications quantifying AMR burden in Australia, and an expansion of surveillance programs, enumerating AMR mortality for Australia is feasible. We aimed to leverage existing published data to assess methodological factors contributing to the considerable variation in AMR-related mortality and provide two reliable estimates of AMR mortality in Australia. This is a necessary step towards generating meaningful measures of AMR burden in Australia.

5.
Commun Biol ; 7(1): 826, 2024 Jul 07.
Article in English | MEDLINE | ID: mdl-38972875

ABSTRACT

Classically, G protein-coupled receptors (GPCRs) promote signaling at the plasma membrane through activation of heterotrimeric Gαßγ proteins, followed by the recruitment of GPCR kinases and ßarrestin (ßarr) to initiate receptor desensitization and internalization. However, studies demonstrated that some GPCRs continue to signal from internalized compartments, with distinct cellular responses. Both ßarr and Gßγ contribute to such non-canonical endosomal G protein signaling, but their specific roles and contributions remain poorly understood. Here, we demonstrate that the vasopressin V2 receptor (V2R)-ßarr complex scaffolds Gßγ at the plasma membrane through a direct interaction with ßarr, enabling its transport to endosomes. Gßγ subsequently potentiates Gαs endosomal translocation, presumably to regenerate an endosomal pool of heterotrimeric Gs. This work shines light on the mechanism underlying G protein subunits translocation from the plasma membrane to the endosomes and provides a basis for understanding the role of ßarr in mediating sustained G protein signaling.


Subject(s)
Endosomes , GTP-Binding Protein beta Subunits , GTP-Binding Protein gamma Subunits , Protein Transport , Receptors, Vasopressin , beta-Arrestins , Humans , beta-Arrestins/metabolism , Cell Membrane/metabolism , Endosomes/metabolism , GTP-Binding Protein beta Subunits/metabolism , GTP-Binding Protein beta Subunits/genetics , GTP-Binding Protein gamma Subunits/metabolism , GTP-Binding Protein gamma Subunits/genetics , HEK293 Cells , Receptors, Vasopressin/metabolism , Receptors, Vasopressin/genetics , Signal Transduction
6.
J Biomech ; 170: 112151, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38851094

ABSTRACT

Complex musculoskeletal complications in children with hypermobility spectrum disorder (HSD) include pain, proprioception deficits, and joint instability, which may result in movement dysfunction during walking. However, no studies have explored the inter-joint coordination deficits in children with HSD. The purpose of this study was to determine the lower extremity inter-joint coupling angles, patterns, and variability during walking in children with HSD compared to children without HSD (non-HSD). Ankle, knee, and hip kinematics during the stance phase of walking in 18 children with HSD and 18 children without HSD were measured using three-dimensional motion analysis. Coupling angles, patterns, and variability of hip-knee, hip-ankle, and knee-ankle were quantified in the sagittal, frontal, and transverse planes using vector coding techniques. Statistical modeling of coupling angles on sine and cosine scales and bootstrapped standard errors were used to compare coupling angles between HSD and non-HSD groups. Permutational multivariate analysis of variance and statistical non-parametric mapping two-sample t-tests were used to compare the coupling patterns and variability between HSD and non-HSD groups, respectively. Our results indicated that coupling angles, patterns, and variability were not significantly different between the groups. These findings suggest that lower extremity inter-joint coordination and its variability during walking might not be a promising area for further research or intervention in children with HSD. Further research could use other biomechanical methods to investigate coordination deficits in pediatric patients with HSD, and how aging and disease progression are associated with coordination deficits in individuals with HSD.


Subject(s)
Gait , Humans , Child , Male , Female , Gait/physiology , Biomechanical Phenomena , Ankle Joint/physiopathology , Joint Instability/physiopathology , Hip Joint/physiopathology , Adolescent , Knee Joint/physiopathology , Lower Extremity/physiopathology , Walking/physiology
7.
Emerg Infect Dis ; 30(7): 1390-1397, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38916575

ABSTRACT

The COVID-19 pandemic highlighted the need for potent community-based tools to improve preparedness. We developed a community health-safety climate (HSC) measure to assess readiness to adopt health behaviors during a pandemic. We conducted a mixed-methods study incorporating qualitative methods (e.g., focus groups) to generate items for the measure and quantitative data from a February 2021 national survey to test reliability, multilevel construct, and predictive and nomologic validities. The 20-item HSC measure is unidimensional (Cronbach α = 0.87). All communities had strong health-safety climates but with significant differences between communities (F = 10.65; p<0.001), and HSC levels predicted readiness to adopt health-safety behaviors. HSC strength moderated relationships between HSC level and behavioral indicators; higher climate homogeneity demonstrated stronger correlations. The HSC measure can predict community readiness to adopt health-safety behaviors in communities to inform interventions before diseases spread, providing a valuable tool for public health authorities and policymakers during a pandemic.


Subject(s)
COVID-19 , Communicable Diseases, Emerging , Public Health , SARS-CoV-2 , Humans , COVID-19/prevention & control , COVID-19/epidemiology , Public Health/methods , Communicable Diseases, Emerging/prevention & control , Communicable Diseases, Emerging/epidemiology , Pandemics/prevention & control , Male , Female , Surveys and Questionnaires , Adult , Middle Aged , Health Behavior
8.
World J Gastroenterol ; 30(20): 2677-2688, 2024 May 28.
Article in English | MEDLINE | ID: mdl-38855149

ABSTRACT

BACKGROUND: The coronavirus disease 2019 (COVID-19) pandemic disrupted healthcare in the United States. AIM: To investigate COVID-19-related and non-COVID-19-related death and characteristics associated with excess death among inflammatory bowel disease (IBD) decedents. METHODS: We performed a register-based study using data from the National Vital Statistics System, which reports death data from over 99% of the United States population, from January 1, 2006 through December 31, 2021. IBD-related deaths among adults 25 years and older were stratified by age, sex, race/ethnicity, place of death, and primary cause of death. Predicted and actual age-standardized mortality rates (ASMRs) per 100000 persons were compared. RESULTS: 49782 IBD-related deaths occurred during the study period. Non-COVID-19-related deaths increased by 13.14% in 2020 and 18.12% in 2021 [2020 ASMR: 1.55 actual vs 1.37 predicted, 95% confidence interval (CI): 1.26-1.49; 2021 ASMR: 1.63 actual vs 1.38 predicted, 95%CI: 1.26-1.49]. In 2020, non-COVID-19-related mortality increased by 17.65% in ulcerative colitis (UC) patients between the ages of 25 and 65 and 36.36% in non-Hispanic black (NHB) Crohn's disease (CD) patients. During the pandemic, deaths at home or on arrival and at medical facilities as well as deaths due to neoplasms also increased. CONCLUSION: IBD patients suffered excess non-COVID-19-related death during the pandemic. Excess death was associated with younger age among UC patients, and with NHB race among CD patients. Increased death at home or on arrival and due to neoplasms suggests that delayed presentation and difficulty accessing healthcare may have led to increased IBD mortality.


Subject(s)
COVID-19 , Cause of Death , Inflammatory Bowel Diseases , Humans , COVID-19/mortality , COVID-19/epidemiology , Male , Female , Middle Aged , Adult , United States/epidemiology , Aged , Inflammatory Bowel Diseases/mortality , SARS-CoV-2 , Registries/statistics & numerical data , Aged, 80 and over , Pandemics , Colitis, Ulcerative/mortality , Colitis, Ulcerative/ethnology , Crohn Disease/mortality , Crohn Disease/ethnology , Crohn Disease/diagnosis , Age Factors
9.
mSphere ; 9(6): e0003124, 2024 Jun 25.
Article in English | MEDLINE | ID: mdl-38775467

ABSTRACT

The gain of mobile elements, such as prophages, can introduce cargo to the recipient bacterium that could facilitate its persistence in or expansion to a new environment, such as a host. While previous studies have focused on identifying and characterizing the genetic diversity of prophages, analyses characterizing the cargo that prophages carry have not been extensively explored. We characterized prophage regions from 303 Salmonella spp. genomes (representing 254 unique serovars) to assess the distribution of prophages in diverse Salmonella. On average, prophages accounted for 3.7% (0.1%-8.8%) of the total genomic content of each isolate. Prophage regions annotated as Gifsy 1 and Salmon Fels 1 were the most commonly identified intact prophages, suggesting that they are common throughout the Salmonella genus. Among 21,687 total coding sequences (CDSs) from intact prophage regions in subsp. enterica genomes, 7.5% (median; range: 1.1%-47.6%) were categorized as having a function not related to prophage integration or phage structure, some of which could potentially provide a functional attribute to the host Salmonella cell. These predicted functions could be broadly categorized into CDSs involved in: (i) modification of cell surface structures (i.e., glycosyltransferases); (ii) modulation of host responses (e.g., SodC/SodA, SopE, ArtAB, and typhoid toxin); (iii) conferring resistance to heavy metals and antimicrobials; (iv) metabolism of carbohydrates, amino acids, and nucleotides; and (v) DNA replication, repair, and regulation. Overall, our systematic analysis of prophage cargo highlights a broader role for prophage cargo in influencing the metabolic, virulence, and resistance characteristics of Salmonella. IMPORTANCE: Lysogenic bacteriophages (phages) can integrate their genome into a bacterial host's genome, potentially introducing genetic elements that can affect the fitness of the host bacterium. The functions of prophage-encoded genes are important to understand as these genes could be mobilized and transferred to a new host. Using a large genomic dataset representing >300 isolates from all known subspecies and species of Salmonella, our study contributes important new findings on the distribution of prophages and the types of cargo that diverse Salmonella prophages carry. We identified a number of coding sequences (CDSs) annotated as having cell surface-modifying attributes, suggesting that prophages may have played an important role in shaping Salmonella's diverse surface antigen repertoire. Furthermore, our characterization of prophages suggests that they play a broader role in facilitating the acquisition and transfer of CDSs associated with metabolism, DNA replication and repair, virulence factors, and to a lesser extent, antimicrobial resistance.


Subject(s)
Genome, Bacterial , Prophages , Salmonella , Prophages/genetics , Prophages/physiology , Virulence , Salmonella/virology , Salmonella/genetics , Genetic Variation , Salmonella Phages/genetics , Salmonella Phages/physiology
10.
Clin Obes ; 14(4): e12676, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38778795

ABSTRACT

Glucagon-like-peptide 1 receptor agonists (GLP-1RA) have transformed type 2 diabetes (T2D) and obesity management. Multiple regulatory agencies are investigating reported associations between GLP1-RA and increased suicide attempts (SA), but observational data may be prone to confounding. Randomised control trials (RCT) of GLP-1RA were largely undertaken in people at lower risk of SA. Real-world data suggest semaglutide use associates with reduced suicidal ideation and depression but was under-powered to statistically assess risk of SA. Mendelian randomisation (MR) leverages genetic instrument(s) to infer potential causal association between an exposure and an outcome. We undertook MR using missense variants in the gene encoding GLP1R that improve glycemia, lower T2D risk and/or lower BMI, to investigate potential causal association between GLP-1RA and SA. In people of European ancestry, MR did not find evidence genetically proxied GLP1RA increased SA in a general population cohort: (rs10305492, exposure: HbA1c, odds ratio [OR] and 95% confidence interval [CI]: 1.38, 0.41-4.62, p = .60), (rs10305492, exposure: FG, OR 1.27, 0.52-3.13, p = .60) and (rs1042044, exposure BMI, OR 0.30, 0.06-1.48) with concordant results in a multi-ancestry SA case-control cohort. In conclusion, we did not find MR evidence that increased GLP-1RA impacts SA. This awaits confirmation with RCT and real-world data.


Subject(s)
Diabetes Mellitus, Type 2 , Glucagon-Like Peptide-1 Receptor , Mendelian Randomization Analysis , Suicide, Attempted , Humans , Glucagon-Like Peptide-1 Receptor/agonists , Glucagon-Like Peptide-1 Receptor/genetics , Diabetes Mellitus, Type 2/drug therapy , Diabetes Mellitus, Type 2/genetics , Male , Female , Hypoglycemic Agents/therapeutic use , Middle Aged , Glucagon-Like Peptides
11.
J Eat Disord ; 12(1): 67, 2024 May 24.
Article in English | MEDLINE | ID: mdl-38790035

ABSTRACT

BACKGROUND: Refeeding syndrome is the gravest possible medical complication in malnourished patients undergoing refeeding in the hospital. We previously reported that males with malnutrition secondary to eating disorders required more calories and had longer hospital stays than females; however, sex differences in electrolyte abnormalities indicating refeeding syndrome risk remain unknown. The objective of this study was to assess differences in electrolyte abnormalities indicating refeeding syndrome risk among male and female adolescents and young adults with eating disorders hospitalized for medical instability. METHODS: We retrospectively reviewed the electronic medical records of 558 patients aged 9-25 years admitted to the University of California, San Francisco Eating Disorders Program for medical instability between May 2012 and August 2020. Serum was drawn per standard of care between 5 and 7 am each morning and electrolyte abnormalities indicating refeeding syndrome risk were defined as: hypophosphatemia (< 3.0 mg/dL), hypokalemia (< 3.5 mEq/L), and hypomagnesemia (< 1.8 mg/dL). Logistic regression was used to assess factors associated with electrolyte abnormalities indicating refeeding syndrome risk. RESULTS: Participants included 86 (15.4%) males and 472 (84.6%) females, mean (SD) age 15.5 (2.8) years. Rates of refeeding hypophosphatemia (3.5%), hypokalemia (8.1%), and hypomagnesemia (11.6%) in males hospitalized with eating disorders were low, with no statistically significant differences from females. Older age was associated with higher odds of refeeding hypophosphatemia and hypomagnesemia. Lower percent median body mass index and greater weight suppression at admission were associated with higher odds of refeeding hypophosphatemia. CONCLUSIONS: Rates of electrolyte abnormalities indicating refeeding syndrome risk were low in males hospitalized for eating disorders and rates did not significantly differ from females. Together with our finding that males have higher caloric requirements and longer hospital length of stay, the finding that electrolyte abnormalities indicating refeeding syndrome risk were not greater in males than females supports future research to evaluate the safety and efficacy of higher calorie and/or faster advancing refeeding protocols for males.

12.
Cureus ; 16(4): e58043, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38738078

ABSTRACT

The ventricular migration of vitreous silicone oil (SiO) is rare and can easily be mistaken for intraventricular hemorrhage or a ruptured colloid cyst. We report here the case of an adult male who was misdiagnosed with a ruptured colloid cyst and was subsequently found to have ventricular migration of vitreous SiO. A 57-year-old male presented unresponsive following a respiratory arrest and underwent a head computed tomography (CT) scan that demonstrated multiple ovoid hyperdensities in the ventricular system, which was concerning for a ruptured colloid cyst. He was transferred to our institution for neurosurgical evaluation. Magnetic resonance imaging (MRI) was performed and demonstrated widespread abnormal diffusion restriction throughout the cortex and basal ganglia, consistent with anoxic brain injury secondary to hypoxic respiratory arrest. The MRI also demonstrated an abnormal signal in areas corresponding with the previously identified intraventricular lesions, which did not layer posteriorly. Given that the MRI sequence signals of the lesions in the ventricular system matched perfectly with the signals of the somewhat deflated SiO within the globe, these multiple ovoid lesions on imaging were most consistent with the migration of SiO from the vitreous body of the right globe into the ventricular system. This case demonstrates a diagnostic error that can occur in emergent settings because of the broad differential diagnosis for cerebral ventricular hyperdensities. A ruptured colloid cyst was considered the reason for transfer, with the anticipation of neurosurgical intervention, but further imaging demonstrated that this was an incidental finding in this patient who presented in extremis. Awareness of this rare clinical condition can prevent overutilization of resources and unnecessary interventions.

13.
Adv Radiat Oncol ; 9(5): 101471, 2024 May.
Article in English | MEDLINE | ID: mdl-38550374

ABSTRACT

Purpose: The role of preoperative stereotactic body radiation therapy (SBRT) in pancreatic cancer is controversial, and questions regarding the optimal dose and radiation treatment field remain. To better inform future investigations of SBRT dose and radiation fields, we evaluated the patterns of failure in patients with borderline resectable/locally advanced pancreatic cancer (BR/LAPC) after preoperative chemotherapy and SBRT in patients who underwent surgical resection. Methods and Materials: We performed a single-institution retrospective review of consecutive patients treated from September 2017 to January 2022 with BR/LAPC. Patients who underwent preoperative chemotherapy and SBRT followed by surgical resection were reviewed. SBRT was delivered to a dose of 33 Gy in 5 fractions. Kaplan-Meier overall survival and progression-free survival estimates were calculated. Results: In total, 18 patients (12 BRPC, 6 LAPC) were included. Median age was 69 years (range 41-84 years). Median follow-up was 30 months (range 13-59 months). Seventeen patients (94%) had a R0 resection and 13 (72%) underwent vascular reconstruction. Median overall survival and progression-free survival was 42 months (range 13-59 months) and 23 months (range 1-45 months), respectively. In total, 61% (11/18) patients experienced progression at any point during follow-up. Of the patients who experienced recurrence, 27% (3/11) experienced local progression as component of their first recurrence, whereas 100% (11/11) experienced distant progression as a component of their first recurrence. When examining all recurrences that occurred at any point in follow-up, 28% (5/18) of patients experienced local or locoregional recurrence and 61% (11/18) experienced distant progression. Conclusions: Local control and margin negative resection rates were excellent with preoperative chemotherapy and nondose-escalated SBRT in surgically resected patients with BR/LAPC. Distant recurrence was the predominant site of failure with lower incidences of isolated locoregional recurrences. Additional research is needed to determine the ideal treatment volume and patients who may benefit from dose escalation.

14.
Diabetes Obes Metab ; 26(6): 2284-2291, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38488265

ABSTRACT

BACKGROUND: Increased waist/hip ratio (WHR) contributes to type 2 diabetes, fatty liver, dyslipidaemia, hypertension and coronary artery disease, with potential sex-differential effects. Postulated mediators include increased lipid flux, branched-chain amino acids, glycine and glycoprotein acetyl, but their relative contributions and sex-specific impact on WHR-associated cardiometabolic disease (CMD) are not established. METHODS: We therefore undertook combined and sex-stratified Mendelian randomization (MR) to assess the relative causal contributions of these mediators to WHR-associated CMD using summary statistics from the largest genome-wide association studies in European ancestries. RESULTS: In sex-combined MR analyses, increased WHR significantly reduces high-density lipoprotein (beta = -0.416, SE = 0.029, p = 2.87E-47), increases triglyceride (beta = 0.431, SE = 0.029, p = 1.87E-50), type 2 diabetes (odds ratio = 2.747, SE = 0.09, p = 26E-23), coronary artery disease (odds ratio = 1.478, SE = 0.045, p = 6.96E-18), alanine transaminase (beta = 0.062, SE = 0.004, p = 6.88E-67), and systolic (beta = 0.134, SE = 0.022, p = 7.81E-10) and diastolic blood pressure (beta = 0.162, SE = 0.026, p = 5.38E-10). Adjustment for the mediators attenuated WHR's effects, but the associations remained significant with concordant results in females. In males, a similar pattern was seen, except after adjusting for the effect of the ratio of monounsaturated fatty acid to total free fatty acid, the potential causal effect of WHR was no longer significant: high-density lipoprotein (beta = -0.117, SE = 0.069, p = .09) and triglyceride (beta = 0.051, SE = 0.068, p = .459). CONCLUSIONS: MR suggests WHR increases the risk of CMD independent of these mediators, with the exception of dyslipidaemia in males, which is largely driven by the monounsaturated fatty acid to total free fatty acid ratio.


Subject(s)
Diabetes Mellitus, Type 2 , Genome-Wide Association Study , Mendelian Randomization Analysis , Waist-Hip Ratio , Humans , Male , Female , Diabetes Mellitus, Type 2/genetics , Diabetes Mellitus, Type 2/epidemiology , Sex Factors , Triglycerides/blood , Cardiovascular Diseases/epidemiology , Cardiovascular Diseases/genetics , Cardiovascular Diseases/etiology , Coronary Artery Disease/genetics , Coronary Artery Disease/epidemiology , Coronary Artery Disease/etiology , Polymorphism, Single Nucleotide , Lipoproteins, HDL/blood , Amino Acids, Branched-Chain , Cardiometabolic Risk Factors , Dyslipidemias/genetics , Dyslipidemias/epidemiology , Dyslipidemias/blood , Glycine
15.
Neurol Res ; 46(5): 379-390, 2024 May.
Article in English | MEDLINE | ID: mdl-38415699

ABSTRACT

OBJECTIVES: Despite recent advances, the prognosis for primary malignant brain tumors (PMBTs) remains poor. Some commonly prescribed medications may exhibit anti-tumor properties in various cancers, and neurodegenerative diseases may activate pathways that counteract gliomagenesis. Our study is focused on determining if there is a correlation between the use of metformin, beta-blockers, angiotensin converting enzyme inhibitors (ACEIs), and angiotensin receptor blockers (ARBs), or the presence of Parkinson's disease (PD), and the survival rates following a diagnosis of a PMBT. METHODS: This analysis of the 100% Texas Medicare Database identified patients aged 66+ years diagnosed with a supratentorial PMBT from 2014-2017. Cox proportional hazards regression was employed to analyze survival following diagnosis and associations of survival with surgical intervention, radiation, PD diagnosis, and prescription of metformin, beta-blockers, ACEIs, or ARBs. RESULTS: There were 1,943 patients who met study criteria, and the median age was 74 years. When medication utilization was stratified by none, pre-diagnosis only, post-diagnosis only, or both pre- and post-diagnosis (continuous), continuous utilization of metformin, beta-blockers, ACEIs, or ARBs was associated with prolonged survival compared to no utilization (hazard ratio [HR]:0.45, 95% CI:0.33-0.62; HR:0.71. 95% CI:0.59-0.86; HR:0.59, 95% CI:0.48-0.72; and HR:0.45, 95% CI:0.35-0.58 respectively). PD was also associated with longer survival (HR:0.59-0.63 across the four models). DISCUSSION: Our study suggests that metformin, beta-blockers, ACEIs, ARBs, and comorbid PD are associated with a survival benefit among geriatric Medicare patients with supratentorial PMBTs.


Subject(s)
Medicare , Humans , Aged , Male , Female , United States/epidemiology , Retrospective Studies , Aged, 80 and over , Supratentorial Neoplasms/mortality , Angiotensin-Converting Enzyme Inhibitors/therapeutic use , Cohort Studies , Adrenergic beta-Antagonists/therapeutic use , Metformin/therapeutic use , Texas/epidemiology , Parkinson Disease/mortality , Parkinson Disease/diagnosis , Parkinson Disease/drug therapy , Angiotensin Receptor Antagonists/therapeutic use , Survival Rate
16.
Cureus ; 16(1): e53181, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38304692

ABSTRACT

Neurosurgery at Baylor Scott & White Memorial Hospital in Temple, Texas began as a division in the Department of Surgery many decades ago. The hospital has long served as the flagship tertiary referral center for the Baylor Scott & White healthcare system, which merged in 2013 with Baylor University Medical Center, a hospital system based in Dallas. It is now the largest non-profit hospital system as well as the most awarded hospital system by the US News and World Report within the state of Texas. The Department of Neurosurgery was established at Baylor Scott & White Memorial Hospital in the 2006-2007 academic year. Between then and 2014, four neurosurgeons served as department chair or interim chair: Dr. Robert Buchanan, Dr. Gerhard Friehs, Dr. Ibrahim El Nihum, and Dr. David Garrett Jr. In 2014, Dr. Jason Huang was appointed chairman after a national search and established the neurosurgery residency program in 2015. The department has undergone tremendous growth under the leadership of Dr. Huang, and the residency program is a priority of the department. Surgical excellence is honed at primarily three campuses: Baylor Scott & White Memorial Hospital, Baylor Scott & White McLane Children's Medical Center, and Baylor Scott & White Medical Center - Hillcrest. In this editorial, we provide a brief history of the institution, a recent history of the neurosurgical presence at Baylor Scott & White Memorial Hospital in Temple, Texas, and briefly describe the program's future directions under the continued leadership of Dr. Jason Huang.

17.
Stud Health Technol Inform ; 310: 1460-1461, 2024 Jan 25.
Article in English | MEDLINE | ID: mdl-38269696

ABSTRACT

Clinical text contains rich patient information and has attracted much research interest in applying Natural Language Processing (NLP) tools to model it. In this study, we quantified and analyzed the textual characteristics of five common clinical note types using multiple measurements, including lexical-level features, semantic content, and grammaticality. We found there exist significant linguistic variations in different clinical note types, while some types tend to be more similar than others.


Subject(s)
Linguistics , Natural Language Processing , Humans , Semantics
18.
Stud Health Technol Inform ; 310: 705-709, 2024 Jan 25.
Article in English | MEDLINE | ID: mdl-38269900

ABSTRACT

The success of deep learning in natural language processing relies on ample labelled training data. However, models in the health domain often face data inadequacy due to the high cost and difficulty of acquiring training data. Developing such models thus requires robustness and performance on new data. A generalised incremental multiphase framework is proposed for developing robust and performant clinical text deep learning classifiers. It incorporates incremental multiphases for training data size assessments, cross-validation setup to avoid test data bias, and robustness testing through inter/intra-model significance analysis. The framework's effectiveness and generalisation were confirmed by the task of identifying patients presenting in 'pain' to the emergency department.


Subject(s)
Deep Learning , Humans , Emergency Service, Hospital , Natural Language Processing , Pain , Research Design
19.
Int J Eat Disord ; 57(4): 1008-1019, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38205657

ABSTRACT

OBJECTIVE: To describe the clinical characteristics of male adolescents and young adults hospitalized for medical complications of atypical anorexia nervosa (atypical AN) and to compare their clinical characteristics with females with atypical AN and males with anorexia nervosa (AN). METHOD: A retrospective review of electronic medical records for patients with atypical AN and AN aged 9-25 admitted to the UCSF Eating Disorders Program from May 2012 to August 2020 was conducted. RESULTS: Among 21 males with atypical AN (mean age 15.1 ± 2.7, mean %mBMI 102.0 ± 11.8), medical complications evidenced by admission laboratory values included anemia (52.9%), vitamin D insufficiency/deficiency (52.6%), and zinc deficiency (31.6%). Compared with females with atypical AN (n = 69), males with atypical AN had longer length of stay (11.4 vs 8.4 days, p = .004), higher prescribed kcal at discharge (4114 vs 3045 kcal, p < .001), lower heart rate nadir (40.0 vs 45.8, p = .038), higher aspartate transaminase (AST, 37.9 vs 26.2 U/L, p = .032), higher alanine transaminase (ALT, 30.6 vs 18.3 U/L, p = .005), and higher rates of anemia (52.9% vs 19.4%, p = .005), with no differences in vitamin D, zinc, and vital signs. Compared with males with AN (n = 40), males with atypical AN had no significant differences in vital signs or laboratory assessments during the hospitalization. DISCUSSION: Atypical AN in males leads to significant medical comorbidity, and males with atypical AN require longer hospital stays compared to females with atypical AN. Rates of abnormal vital signs and abnormal serum laboratory values during hospital admissions do not differ in males with atypical AN compared to AN. PUBLIC SIGNIFICANCE: Adolescent and young adult males with atypical anorexia nervosa experience significant medical complications. Males with atypical anorexia nervosa had longer hospitalizations and higher prescribed nutrition at discharge than females. Medical complications of atypical anorexia nervosa in male adolescents and young adults were generally equal to those of male adolescents and young adults with anorexia nervosa. Clinicians should be aware of unique medical complications of males with atypical anorexia nervosa.


Subject(s)
Anemia , Anorexia Nervosa , Female , Humans , Male , Adolescent , Young Adult , Child , Anorexia Nervosa/complications , Anorexia Nervosa/diagnosis , Body Mass Index , Hospitalization , Anemia/complications , Anemia/diagnosis , Zinc
20.
Int J Eat Disord ; 57(1): 184-194, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37864342

ABSTRACT

OBJECTIVE: To determine sex differences in cholesterol and triglyceride levels among adolescents and young adults hospitalized for medical complications of eating disorders. METHODS: A retrospective electronic medical record review of patients aged 9-25 years admitted to the University of California, San Francisco Eating Disorders Program for medical stabilization, between 2012 and 2020, was conducted. Non-fasting total cholesterol and triglycerides were collected; however, LDL and HDL levels were not available. RESULTS: Among 83 males and 441 females, mean ± SD age was 15.5 ± 2.8 years, 64.1% had anorexia nervosa, and admission percent median body mass index was 87.3 ± 13.9. The proportion of males and females with high total cholesterol (13.3% vs. 18.1%, Cramer's V = 0.05, p = .28) and high triglyceride levels (9.6% vs. 8.1%, Cramer's V = 0.02, p = .63) did not differ. Mean total cholesterol levels were higher in females compared to males (F 169.6 ± 41.1 mg/dL vs. M 154.5 ± 45.1 mg/dL, Cohen's d = 0.36, p = .003), although a majority were within the normal range. In adjusted linear regression models, male (compared to female) sex (B = -14.40, 95% CI -24.54, -4.27) and higher percent median body mass index (B = -0.33, 95% CI -0.60, -0.06) were associated with lower total cholesterol levels in adjusted models (R2 = 0.04). DISCUSSION: Building on prior work showing equally severe complications of eating disorders in males compared to females, we did not find sex differences in those presenting with high total cholesterol or triglycerides. Future research is needed to understand the pathophysiology and role of dyslipidemia in acute malnutrition, and the impact of nutritional rehabilitation and weight restoration. PUBLIC SIGNIFICANCE: We found that the proportion of male and female adolescents and young adults hospitalized for medical complications of an eating disorder with high total cholesterol did not significantly differ. Although average total cholesterol levels were higher in female compared to male patients with eating disorders, a majority of these levels remained within the normal range. Patients with more severe malnutrition had a higher risk of elevated total cholesterol levels. Clinicians should consider monitoring cholesterol levels in young people hospitalized for restrictive eating disorders.


Subject(s)
Adolescent, Hospitalized , Malnutrition , Adolescent , Humans , Male , Female , Young Adult , Risk Factors , Retrospective Studies , Sex Characteristics , Cholesterol , Triglycerides
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