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1.
Prev Med ; 171: 107498, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37004848

RESUMO

The number of adults experiencing obesity continues to rise. A significant amount of research has addressed primary prevention interventions within pediatric populations to minimize the onset of obesity. However, research efforts within adult populations have commonly emphasized secondary and tertiary prevention for obesity. Therefore, this scoping review aimed to characterize and identify gaps in primary prevention interventions targeting adult populations at risk for obesity. A scoping review was conducted via PubMed, CINAHL, Cochrane, and PscyINFO. A total of 7216 papers were retrieved. Sixteen articles were included in the review. Seven of the studies included only females in the interventions. Only two studies occurred within the United States. Three studies included multi-modal interventions. Interventions were delivered by dieticians in four studies and nurses in three studies. Fifteen of the studies proved to be effective overall for improving weight-related outcomes. The following themes were revealed through this review: (1) participants were usually female and homogenous; (2) studies frequently occurred outside of the United States; (3) studies most often explored unimodal interventions; (4) dieticians and nurses were the most common intervention providers; and (5) favorable outcomes for reducing weight were demonstrated across studies. This scoping review reveals that primary prevention interventions have the potential to minimize obesity onset in at-risk adult populations. However, evaluation of current interventions shows multiple gaps in population target, intervention origin, intervention type, and provider type.


Assuntos
Obesidade , Prevenção Primária , Criança , Adulto , Humanos , Feminino , Obesidade/prevenção & controle , Obesidade/epidemiologia , Fatores de Risco
2.
Vet Radiol Ultrasound ; 64(1): 86-94, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35969218

RESUMO

Evaluation of brain disease in veterinary patients uses a wide variety of MRI sequences. A shortened protocol that maintains consistency of interpretation would reduce radiologist reporting time, patient anesthetic time, and client cost. The aims of this retrospective, methods comparison, observer agreement study were to evaluate whether abbreviated MRI protocols alter differential diagnoses and recommendations compared to our institution's standard protocol; evaluate interobserver agreement on standard brain MRIs; and assess whether differential diagnoses change after postcontrast images. Normal and pathologic canine and feline brain MRIs were retrieved from hospital archives. Three protocols were created from each: a 5-sequence noncontrast enhanced Fast Brain Protocol 1 (FBP1); a 6-sequence contrast-enhanced Fast Brain Protocol 2 (FBP2); and an 11-sequence standard brain protocol (SBP). Three blinded veterinary radiologists interpreted FBP images for 98 cases (1 reader/case) and SBP images for 20 cases (3 readers/case). A fourth observer compared these interpretations to the original MRI reports (OMR). Overall agreement between FBPs and OMR was good (k = 0.75) and comparable to interobserver agreement for multiple reviews of SBP cases. Postcontrast images substantially altered conclusions in 17/97 cases (17.5%), as well as improved interobserver agreement compared to noncontrast studies. The conclusions reached with shortened brain protocols were comparable to those of a full brain study. The findings supported the use of a 6-sequence brain MRI protocol (sagittal T2-weighted [T2w] TSE; transverse T2w turbo spin echo fluid-attenuated inversion recovery, T2*-weighted gradient recalled echo, T1-weighted spin echo, and diffusion weighted imaging/apparent diffusion coefficient; and postcontrast transverse T1-weighted spin echo) for dogs and cats with suspected intracranial disease.


Assuntos
Doenças do Gato , Doenças do Cão , Imageamento por Ressonância Magnética , Animais , Gatos , Cães , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Doenças do Gato/diagnóstico por imagem , Doenças do Gato/patologia , Diagnóstico Diferencial , Doenças do Cão/diagnóstico por imagem , Doenças do Cão/patologia , Imageamento por Ressonância Magnética/normas , Imageamento por Ressonância Magnética/veterinária , Estudos Retrospectivos
3.
Toxicol Pathol ; 50(5): 607-627, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35535738

RESUMO

To investigate the influence of geographical origin, age, and sex on toxicologically relevant spontaneous histopathology findings in cynomolgus macaques (Macaca fascicularis), we performed a comparative analysis of historical control data (HCD) from 13 test sites that included 3351 animals (1645 females and 1706 males) sourced from Mauritius, China, Vietnam, and Cambodia, aged from 2 to 9.5 years, and from 446 toxicology studies evaluated between 2016 and 2021. The most common findings were mononuclear infiltrates in the kidney, liver, brain, and lung, which showed highest incidences in Mauritian macaques, and heart, salivary glands, and gastrointestinal tract (GIT), which showed highest incidences of mononuclear infiltrates in mainland Asian macaques. Developmental and degenerative findings were more common in Mauritian macaques, while lymphoid hyperplasia and lung pigment showed higher incidences in Asian macaques. Various sex and age-related differences were also present. Despite origin-related differences, the similarities in the nature and distribution of background lesions indicate that macaques from all geographical regions are suitable for toxicity testing and show comparable lesion spectrum. However, in a toxicity study, it is strongly recommended to use animals from a single geographical origin and to follow published guidelines when using HCD to evaluate and interpretate commonly diagnosed spontaneous lesions.


Assuntos
Criação de Animais Domésticos , Animais , China , Feminino , Macaca fascicularis , Masculino , Maurício , Vietnã
4.
J Nutr ; 151(8): 2353-2360, 2021 08 07.
Artigo em Inglês | MEDLINE | ID: mdl-33982119

RESUMO

BACKGROUND: Whether current dietary guidelines are appropriate for pregnancy and lactation has not been well studied. Many women of reproductive age are not meeting recommendations for dietary components such as fat, added sugar, and fiber. OBJECTIVES: To assess associations between maternal dietary components during pregnancy and lactation and infant growth and adiposity at 6 mo of age. METHODS: Mother-infant dyads (n = 349) from the prospective, observational Mothers and Infants Linked for Healthy Growth study were included (100% fully breastfed for 1 mo; 75% to 6 mo). Daily intake of fat, fiber, and added sugar was obtained using the National Cancer Institute Diet History Questionnaire II during the third trimester of pregnancy and at 1 and 3 mo postpartum. Furthermore, intakes were categorized as meeting/exceeding 2015-2020 Dietary Guidelines for Americans. Multiple linear regression models adjusted for numerous potential confounders tested relations between dietary components and infant adiposity (via DXA) and growth parameters. Regression coefficients (ß) for continuous variables were expressed per SD to allow for comparison of effect sizes. RESULTS: Maternal intake of total fat and saturated fat was positively associated with infant percent body fat (%BF) (ß: 0.84 per SD, P = 0.04; ß: 0.96 per SD, P = 0.01, respectively). Added sugar intake was positively associated with infant weight-for-length z score (ß: 0.16 per SD, P = 0.02), and excessive added sugar intake was positively associated with %BF at 6 mo (ß: 0.75 per SD, P = 0.05). CONCLUSIONS: In a predominantly fully breastfeeding cohort of women, maternal intake of fat and added sugar during pregnancy and lactation were associated with small increases in infant adiposity and relative weight at 6 mo. Additional research is needed to determine if these relations persist later in infancy and if such elevations in adiposity are important for long-term obesity risk.


Assuntos
Adiposidade , Açúcares , Tecido Adiposo , Ingestão de Alimentos , Feminino , Humanos , Lactente , Obesidade , Gravidez , Estudos Prospectivos
5.
Mol Biol Evol ; 36(5): 955-965, 2019 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-30753705

RESUMO

Our understanding of the human mutation rate helps us build evolutionary models and interpret patterns of genetic variation observed in human populations. Recent work indicates that the frequencies of specific polymorphism types have been elevated in Europe, and that many more, subtler signatures of global polymorphism variation may yet remain unidentified. Here, we present an analysis of the 1000 Genomes Project supported by analysis in the Simons Genome Diversity Panel, suggesting additional putative signatures of mutation rate variation across populations and the extent to which they are shaped by local sequence context. First, we compiled a list of the most significantly variable polymorphism types in a cross-continental statistical test. Clustering polymorphisms together, we observe three sets that showed distinct shared patterns of relative enrichment among ancestral populations, and we characterize each one of these putative "signatures" of polymorphism variation. For three of these signatures, we found that a single flanking base pair of sequence context was sufficient to determine the majority of enrichment or depletion of a polymorphism type. However, local genetic context up to 2-3 bp away contributes additional variability and may help to interpret a previously noted enrichment of certain polymorphism types in some East Asian groups. Moreover, considering broader local genetic context highlights patterns of polymorphism variation, which were not captured by previous approaches. Building our understanding of mutation rate in this way can help us to construct more accurate evolutionary models and better understand the mechanisms that underlie genetic change.


Assuntos
Genoma Humano , Taxa de Mutação , Polimorfismo Genético , Frequência do Gene , Humanos
6.
PLoS Med ; 17(9): e1003302, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32915777

RESUMO

BACKGROUND: A number of epidemiological and genetic studies have attempted to determine whether levels of circulating lipids are associated with risks of various cancers, including breast cancer (BC). However, it remains unclear whether a causal relationship exists between lipids and BC. If alteration of lipid levels also reduced risk of BC, this could present a target for disease prevention. This study aimed to assess a potential causal relationship between genetic variants associated with plasma lipid traits (high-density lipoprotein, HDL; low-density lipoprotein, LDL; triglycerides, TGs) with risk for BC using Mendelian randomization (MR). METHODS AND FINDINGS: Data from genome-wide association studies in up to 215,551 participants from the Million Veteran Program (MVP) were used to construct genetic instruments for plasma lipid traits. The effect of these instruments on BC risk was evaluated using genetic data from the BCAC (Breast Cancer Association Consortium) based on 122,977 BC cases and 105,974 controls. Using MR, we observed that a 1-standard-deviation genetically determined increase in HDL levels is associated with an increased risk for all BCs (HDL: OR [odds ratio] = 1.08, 95% confidence interval [CI] = 1.04-1.13, P < 0.001). Multivariable MR analysis, which adjusted for the effects of LDL, TGs, body mass index (BMI), and age at menarche, corroborated this observation for HDL (OR = 1.06, 95% CI = 1.03-1.10, P = 4.9 × 10-4) and also found a relationship between LDL and BC risk (OR = 1.03, 95% CI = 1.01-1.07, P = 0.02). We did not observe a difference in these relationships when stratified by breast tumor estrogen receptor (ER) status. We repeated this analysis using genetic variants independent of the leading association at core HDL pathway genes and found that these variants were also associated with risk for BCs (OR = 1.11, 95% CI = 1.06-1.16, P = 1.5 × 10-6), including locus-specific associations at ABCA1 (ATP Binding Cassette Subfamily A Member 1), APOE-APOC1-APOC4-APOC2 (Apolipoproteins E, C1, C4, and C2), and CETP (Cholesteryl Ester Transfer Protein). In addition, we found evidence that genetic variation at the ABO locus is associated with both lipid levels and BC. Through multiple statistical approaches, we minimized and tested for the confounding effects of pleiotropy and population stratification on our analysis; however, the possible existence of residual pleiotropy and stratification remains a limitation of this study. CONCLUSIONS: We observed that genetically elevated plasma HDL and LDL levels appear to be associated with increased BC risk. Future studies are required to understand the mechanism underlying this putative causal relationship, with the goal of developing potential therapeutic strategies aimed at altering the cholesterol-mediated effect on BC risk.


Assuntos
Neoplasias da Mama/genética , Lipídeos/análise , Lipídeos/sangue , Adulto , Neoplasias da Mama/metabolismo , Colesterol/análise , Colesterol/sangue , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Feminino , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla/métodos , Humanos , Masculino , Análise da Randomização Mendeliana/métodos , Pessoa de Meia-Idade , Razão de Chances , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco , Triglicerídeos/sangue
7.
Am J Hematol ; 95(8): 960-965, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32356313

RESUMO

With licensure of extended half-life (EHL) factor products and the changing landscape of available hemophilia products, patients and providers have options for less treatment-intense prophylaxis. The impact of these products in clinical practice to date remains understudied. We aimed to quantify the use of EHL products in prophylaxis in the US using the ATHN-dataset, a database of 145 ATHN-affiliated hemophilia treatment centers (HTCs). Further, we aimed to quantify the impact of EHL on key hemophilia indicators including annualized bleed rates (ABRs), hemophilia joint health scores (HJHS) and quality of life (QOL) metrics. The use of EHL vs standard half-life (SHL) products in severe hemophilia was compared between June 2018 and March 2019 using the ATHN-dataset. A cohort of patients was also recruited from seven participating HTCs in order to compare ABR, HJHS and QOL between product classes. By March 2019 the number of individuals with severe Hemophilia A (SHA) receiving EHLs remained relatively stable (28.4%), whereas the number of prescribed non-factor products increased to 7.1%, with a diminishing majority of patients (64.0%) continuing to receive SHLs. The majority of patients with severe hemophilia B (SHB) received treatment with EHLs including 57.5% by March 2019. There was a trend toward lower ABR with use of EHLs in SHA and SHB, although this did not result in improved HJHS nor QOL. EHL use in the United States in severe hemophilia continues to increase, although at a slower rate in SHA with the availability of non-factor therapy. The impact of the EHL therapies in clinical practice should continue to be examined prospectively.


Assuntos
Meia-Vida , Hemofilia A/terapia , Adolescente , Adulto , Idoso , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estados Unidos , Adulto Jovem
8.
Community Ment Health J ; 56(6): 1188-1200, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32385585

RESUMO

Many individuals diagnosed with schizophrenia state that family relationships are a primary facilitator of their recovery. However, they also report higher rates of early life adversities, typically in their family environments. We used modified Grounded Theory on 20 semi-structured, in-depth interviews with adults (half ethnic minorities, half women) diagnosed with schizophrenia or schizoaffective disorder and receiving treatment at an urban psychiatric outpatient clinic to investigate how early life adversities influence later life family interactions. Approximately half of participants did not mention early life adversities and described positive family interactions and perceived supportive involvement in their illness. The other half of participants experienced abusive and/or unstable childhood homes that many explicitly linked to limited family interactions and perceived absence of support for their illness. These findings suggest that limited familial interactions following early life adversities may reflect resilient boundary setting, and indicate the value of considering these adversities before incorporating families in care.


Assuntos
Transtornos Psicóticos , Esquizofrenia , Adulto , Criança , Relações Familiares , Feminino , Humanos , Acontecimentos que Mudam a Vida , Pacientes Ambulatoriais , Transtornos Psicóticos/terapia , Esquizofrenia/terapia
9.
Dis Aquat Organ ; 137(1): 53-63, 2019 Nov 28.
Artigo em Inglês | MEDLINE | ID: mdl-31777400

RESUMO

Acanthurus spp. of St. Kitts and other Caribbean islands, including ocean surgeonfish A. bahianus, doctorfish A. chirurgus, and blue tang A. coeruleus, frequently show multifocal cutaneous pigmentation. Initial reports from the Leeward Antilles raised suspicion of a parasitic etiology. The aim of this study was to quantify the prevalence of the disease in St. Kitts' Acanthuridae and describe its pathology and etiology. Visual surveys demonstrated consistently high adjusted mean prevalence at 3 shallow reefs in St. Kitts in 2017 (38.9%, 95% CI: 33.8-43.9) and 2018 (51.5%; 95% CI: 46.2-56.9). There were no differences in prevalence across species or reefs, but juvenile fish were less commonly affected than adults. A total of 29 dermatopathy-affected acanthurids were sampled by spearfishing for comprehensive postmortem examination. Digenean metacercariae were dissected from <1 mm cysts within pigmented lesions. Using partial 28S rDNA sequence data they were classified as Family Heterophyidae, members of which are commonly implicated in black spot disease of other fishes. Morphological features of the parasite were most typical of Scaphanocephalus spp. (Creplin, 1842), and 2 genetic profiles were obtained suggesting more than 1 digenean species. Histologically, pigmented lesions had mild chronic perivascular dermatitis and increased melanophores and melanin density, often centered on encysted digenean metacercariae. In 1 affected A. chirurgus, similar metacercariae were histologically identified in skeletal and cardiac muscle. Further research is needed to clarify impact on host fitness, establish the number of heterophyid digenean species that cause black spots on Caribbean fishes and to determine the intermediate and definitive host species.


Assuntos
Dermatite , Perciformes , Animais , Região do Caribe , Metacercárias , Índias Ocidentais
10.
J Behav Med ; 41(1): 87-98, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28766183

RESUMO

The purpose of this randomized wait-list controlled trial was to test the feasibility and preliminary efficacy of a guided imagery based multi-behavior intervention intended to address psychological stress, food cravings, and physical activity. Personalized guided imagery scripts were created and participants were instructed to practice guided imagery every day for 35 consecutive days. Of 48 women who enrolled, we report comparisons between 16 randomized to treatment with 19 who were wait-listed (overall Mage = 45.50; Mbodymassindex = 31.43). Study completers reported 89% compliance with practicing guided imagery during the intervention. A significant time-by-group interaction was observed with reductions in food cravings and increases in physical activity compared with wait-list controls. Telephone-based multi-behavior interventions that utilize guided imagery to address food cravings and exercise behavior appear to be acceptable for overweight and obese women. Future phone-based guided imagery research testing this skill to address multiple health behaviors is justified.


Assuntos
Fissura , Exercício Físico/psicologia , Preferências Alimentares/psicologia , Imagens, Psicoterapia , Obesidade/terapia , Sobrepeso/terapia , Estresse Psicológico/terapia , Adulto , Estudos de Viabilidade , Feminino , Comportamentos Relacionados com a Saúde , Humanos , Pessoa de Meia-Idade , Obesidade/psicologia , Sobrepeso/psicologia , Autonomia Pessoal , Estresse Psicológico/complicações , Estresse Psicológico/psicologia
11.
Nature ; 470(7332): 66-8, 2011 Feb 03.
Artigo em Inglês | MEDLINE | ID: mdl-21217688

RESUMO

Supermassive black holes are now thought to lie at the heart of every giant galaxy with a spheroidal component, including our own Milky Way. The birth and growth of the first 'seed' black holes in the earlier Universe, however, is observationally unconstrained and we are only beginning to piece together a scenario for their subsequent evolution. Here we report that the nearby dwarf starburst galaxy Henize 2-10 (refs 5 and 6) contains a compact radio source at the dynamical centre of the galaxy that is spatially coincident with a hard X-ray source. From these observations, we conclude that Henize 2-10 harbours an actively accreting central black hole with a mass of approximately one million solar masses. This nearby dwarf galaxy, simultaneously hosting a massive black hole and an extreme burst of star formation, is analogous in many ways to galaxies in the infant Universe during the early stages of black-hole growth and galaxy mass assembly. Our results confirm that nearby star-forming dwarf galaxies can indeed form massive black holes, and that by implication so can their primordial counterparts. Moreover, the lack of a substantial spheroidal component in Henize 2-10 indicates that supermassive black-hole growth may precede the build-up of galaxy spheroids.

12.
Med Confl Surviv ; 33(2): 141-161, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28497699

RESUMO

Social and fieldworkers face enormous challenges in assisting millions of Syrian refugees in Lebanon since the Syrian war in 2011. We sought to assess the feasibility and acceptability of an adapted version of the SMART-3RP (Stress Management Relaxation Response Resilience Training) training to address the emotional and physical burden on the humanitarian field. Data were collected using the Symptom Checklist-90 (SCL-90), blood pressure, pulse and a brief qualitative survey at months 0, 3, 6 and 9. We compared mean SCL-90 scores and physiological measures from these time points and subjected qualitative data to a thematic analysis. Mean values of all measures decreased from months 0 to 9, with significance in SCL-90 changes increasing at each visit. Qualitative themes included decreased stress, increased positivity and problem-solving skills, interpersonal and personal benefits of mindfulness practice and the need to continue and expand the programme. Qualitative and quantitative analyses showed a decrease in stress perception and blood pressure, demonstrating the physiological benefits of mind body approaches. We highlight the importance of self-care for humanitarian workers as the basis for the mission's success. We invite additional research to confirm these findings and their implications for the humanitarian field.


Assuntos
Acessibilidade aos Serviços de Saúde , Refugiados/psicologia , Exposição à Guerra , Pessoal de Saúde , Humanos , Relações Interpessoais , Líbano , Inquéritos e Questionários , Síria/etnologia
14.
Clin Ther ; 46(2): 90-95, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-38071132

RESUMO

PURPOSE: The new ultra-short-acting benzodiazepine, remimazolam, offers a pharmacokinetic and pharmacodynamic advantage over commonly used procedural sedation medication. This retrospective study explored the real-world utilization of remimazolam during procedural sedation to support the development of a nurse sedation protocol. The primary outcome was to identify associations between recovery time, adverse reactions, and dose-response in expanded patient populations. METHODS: This study reviewed charts of 292 adult patients from 3 hospitals within one institution who received remimazolam during procedural sedation between June 1, 2021 and December 31, 2021. Data were analyzed using logistic and linear regression. FINDINGS: The median time to alert in patients receiving remimazolam alone was 12 minutes (interquartile range 10, 17) and increased when additional sedation medications were utilized. Receiving additional sedative medication significantly increased the odds of hypoxia (OR 2.77, 95% CI 1.30-5.91, P = 0.008) after adjusting for body mass index (BMI), American Society of Anesthesiologists physical status (ASA-PS), and total remimazolam dose. There was a 25% increase in odds of experiencing hypoxia for every 5 kg/m2 increase in BMI (95% CI 1.01-1.54, P = 0.037). IMPLICATIONS: Remimazolam presents as a promising option for nurse procedural sedation, offering minimal impact on hemodynamics and respirations, quick recovery, and no residual sedative effects.


Assuntos
Benzodiazepinas , Hipnóticos e Sedativos , Adulto , Humanos , Estudos Retrospectivos , Benzodiazepinas/uso terapêutico , Hipnóticos e Sedativos/efeitos adversos , Hipóxia/induzido quimicamente
15.
Biology (Basel) ; 13(2)2024 Feb 02.
Artigo em Inglês | MEDLINE | ID: mdl-38392311

RESUMO

Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel testing currently being the most common approach; follow-up testing using broad-based methods, such as exome or genome sequencing, is less consistently offered. Here, we use five case examples to illustrate the unique ability of broad-based testing to improve diagnostic yield, resulting in identification of SORD-neuropathy, HADHB-related disease, ATXN2-ALS, MECP2 related progressive gait decline and spasticity, and DNMT1-related cerebellar ataxia, deafness, narcolepsy, and hereditary sensory neuropathy type 1E. We describe in each case the technological advantages that enabled identification of the causal gene, and the resultant clinical and personal implications for the patient, demonstrating the importance of offering exome or genome sequencing to adults with NMDs.

16.
bioRxiv ; 2024 Jan 28.
Artigo em Inglês | MEDLINE | ID: mdl-38328166

RESUMO

The establishment of the gut microbiome in early life is critical for healthy infant development. Although human milk is recommended as the sole source of nutrition for the human infant, little is known about how variation in milk composition, and especially the milk microbiome, shapes the microbial communities in the infant gut. Here, we quantified the similarity between the maternal milk and the infant gut microbiome using 507 metagenomic samples collected from 195 mother-infant pairs at one, three, and six months postpartum. We found that the microbial taxonomic overlap between milk and the infant gut was driven by bifidobacteria, in particular by B. longum. Infant stool samples dominated by B. longum also showed higher temporal stability compared to samples dominated by other species. We identified two instances of strain sharing between maternal milk and the infant gut, one involving a commensal (B. longum) and one a pathobiont (K. pneumoniae). In addition, strain sharing between unrelated infants was higher among infants born at the same hospital compared to infants born in different hospitals, suggesting a potential role of the hospital environment in shaping the infant gut microbiome composition. The infant gut microbiome at one month compared to six months of age was enriched in metabolic pathways associated with de-novo molecule biosynthesis, suggesting that early colonisers might be more versatile and metabolically independent compared to later colonizers. Lastly, we found a significant overlap in antimicrobial resistance genes carriage between the mother's milk and their infant's gut microbiome. Taken together, our results suggest that the human milk microbiome has an important role in the assembly, composition, and stability of the infant gut microbiome.

17.
J Neurol ; 271(2): 733-747, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37891417

RESUMO

The role of genetic testing in neurologic clinical practice has increased dramatically in recent years, driven by research on genetic causes of neurologic disease and increased availability of genetic sequencing technology. Genetic testing is now indicated for adults with a wide range of common neurologic conditions. The potential clinical impacts of a genetic diagnosis are also rapidly expanding, with a growing list of gene-specific treatments and clinical trials, in addition to important implications for prognosis, surveillance, family planning, and diagnostic closure. The goals of this review are to provide practical guidance for clinicians about the role of genetics in their practice and to provide the neuroscience research community with a broad survey of current progress in this field. We aim to answer three questions for the neurologist in practice: Which of my patients need genetic testing? What testing should I order? And how will genetic testing help my patient? We focus on common neurologic disorders and presentations to the neurology clinic. For each condition, we review the most current guidelines and evidence regarding indications for genetic testing, expected diagnostic yield, and recommended testing approach. We also focus on clinical impacts of genetic diagnoses, highlighting a number of gene-specific therapies recently approved for clinical use, and a rapidly expanding landscape of gene-specific clinical trials, many using novel nucleotide-based therapeutic modalities like antisense oligonucleotides and gene transfer. We anticipate that more widespread use of genetic testing will help advance therapeutic development and improve the care, and outcomes, of patients with neurologic conditions.


Assuntos
Doenças do Sistema Nervoso , Neurociências , Adulto , Humanos , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/genética , Doenças do Sistema Nervoso/terapia , Testes Genéticos , Neurologistas , Instituições de Assistência Ambulatorial
18.
Neurology ; 102(6): e209161, 2024 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-38447117

RESUMO

BACKGROUND AND OBJECTIVES: Genetic testing is now the standard of care for many neurologic conditions. Health care disparities are unfortunately widespread in the US health care system, but disparities in the utilization of genetic testing for neurologic conditions have not been studied. We tested the hypothesis that access to and results of genetic testing vary according to race, ethnicity, sex, socioeconomic status, and insurance status for adults with neurologic conditions. METHODS: We analyzed retrospective data from patients who underwent genetic evaluation and testing through our institution's neurogenetics program. We tested for differences between demographic groups in 3 steps of a genetic evaluation pathway: (1) attending a neurogenetic evaluation, (2) completing genetic testing, and (3) receiving a diagnostic result. We compared patients on this genetic evaluation pathway with the population of all neurology outpatients at our institution, using univariate and multivariable logistic regression analyses. RESULTS: Between 2015 and 2022, a total of 128,440 patients were seen in our outpatient neurology clinics and 2,540 patients underwent genetic evaluation. Black patients were less than half as likely as White patients to be evaluated (odds ratio [OR] 0.49, p < 0.001), and this disparity was similar after controlling for other demographic factors in multivariable analysis. Patients from the least wealthy quartile of zip codes were also less likely to be evaluated (OR 0.67, p < 0.001). Among patients who underwent evaluation, there were no disparities in the likelihood of completing genetic testing, nor in the likelihood of a diagnostic result after adjusting for age. Analyses restricted to specific indications for genetic testing supported these findings. DISCUSSION: We observed unequal utilization of our clinical neurogenetics program for patients from marginalized and minoritized demographic groups, especially Black patients. Among patients who do undergo evaluation, all groups benefit similarly from genetic testing when it is indicated. Understanding and removing barriers to accessing genetic testing will be essential to health care equity and optimal care for all patients with neurologic disorders.


Assuntos
Doenças do Sistema Nervoso , Neurologia , Adulto , Humanos , Estudos Retrospectivos , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/genética , Instituições de Assistência Ambulatorial , Testes Genéticos
19.
Cureus ; 15(9): e45307, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37846243

RESUMO

This case presentation describes and justifies the use of petrolatum gauze that is impregnated with 3% bismuth tribromophenate (Xeroform) as a low-cost and effective alternative for synthetic skin grafts. Herein, we discuss clinical trials that demonstrate the benefits of utilizing Xeroform for second-intention healing as well as photographs of a case in which the authors used this method and followed a patient's wound-healing process over time.

20.
J Vet Intern Med ; 37(3): 960-967, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37092349

RESUMO

BACKGROUND: Greyhounds have been reported to have hyperhomocysteinemia (HHC), but the underlying mechanisms and clinical implications are unclear. HYPOTHESIS: Our primary aim was to assess serum concentrations of homocysteine (HCy) and related analytes in Greyhounds and to identify a likely metabolic pathway for HHC. A secondary aim was to determine whether HHC is associated with evidence of oxidative stress. ANIMALS: Healthy pet Greyhounds (n = 31) and non-sighthound control dogs (n = 15). METHODS: Analysis of serum HCy, cobalamin, folate, and methionine, and plasma cysteine, glutathione, and total 8-isoprostane concentrations. RESULTS: Homocysteine concentrations were higher in Greyhounds (median, 25.0 µmol/L) compared to controls (13.9 µmol/L; P < .0001). Cobalamin concentrations were lower in Greyhounds (median, 416 ng/L) compared to controls (644 ng/L; P = .004) and were inversely correlated with HCy (r = -0.40, P = .004). Serum concentrations of folate, which is regenerated when HCy is converted to methionine, also were inversely correlated with HCy (r = -0.47, P = .002). Serum methionine concentrations were more than 4-fold lower in Greyhounds (median, 3.2 µmol/L) compared to controls (median, 15.0 µmol/L), but this difference was not significant (P = .3). Plasma cysteine, glutathione, and 8-isoprostane concentrations did not differ significantly between groups. CONCLUSIONS AND CLINICAL IMPORTANCE: Our findings suggest a primary defect in conversion of HCy to methionine in Greyhounds, with related impaired folate generation. Ineffective cycling by methionine synthase could lead to secondary cobalamin depletion. Notably, low serum folate and cobalamin concentrations can be observed in Greyhounds without signs of intestinal disease.


Assuntos
Doenças do Cão , Hiper-Homocisteinemia , Cães , Animais , Hiper-Homocisteinemia/veterinária , Cisteína , Ácido Fólico , Vitamina B 12 , Metionina/metabolismo , Racemetionina
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