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1.
J Opioid Manag ; 20(3): 255-259, 2024.
Article in English | MEDLINE | ID: mdl-39017617

ABSTRACT

BACKGROUND: The ravaging effects of the opioid epidemic have affected our communities locally and nationally and are multifaceted in their cause and treatment. It is imperative to locate multiple modalities of treatment options and care for patients with opioid use disorder (OUD) including developing healthy nutrition habits and addressing mental health concerns. Understanding patient perceptions of their personal nutrition habits and mental health status is imperative to providing holistic care in the OUD patient population. METHODS: An anonymous 31-question Likert-scale and multiple-choice survey was administered to patients with an International Classification of Disease (ICD-10) code in their electronic medical record of OUD (N = 124). χ2 and Fisher's exact test where appropriate were performed to determine the demographics of survey participants who acknowledged history of OUD compared to those who did not acknowledge a history of OUD. Log-binomial models were used to generate adjusted prevalence ratios. RESULTS: Of the 117 patients identified using ICD-10 codes from their medical records as having OUD, only 63 patients acknowledged having a history of OUD, while 54 patients did not. A univariate analysis showed differences in marital status for patients with a self-identified history of OUD. They were also more likely to not be married (divorced or single) (p < 0.01). Patients also tended to be younger than 50 years of age (p < 0.01) and non-White (p < 0.01). There were no differences seen for patients with a history of OUD in the categories of employment (p = 0.31) status or sex (p = 0.51). Patients who acknowledged a history of OUD were significantly more likely to understand the relationship between a healthy diet and reducing the intensity of opioid cravings (p = 0.01) and more likely to consider using nutrition to help combat opioid cravings (p = 0.01). There were no significant differences in overall health or the use of supplements as a part of opioid use treatment. Significant differences were found between those acknowledging a history of OUD having higher rates of depression (p = 0.02) and anxiety (p = 0.02) treatment, despite there not being differences in condition rates for these two conditions (depression, p = 0.08; anxiety, p = 0.27) between the groups. Patients with patient-confirmed OUD were more likely to receive medication treatment (p = 0.03) than those without this acknowledgment. DISCUSSION: A similar disease burden of anxiety and depression existed for patients acknowledging OUD as opposed to patients denying OUD. However, significant differences existed between these groups in medication treatment, with those acknowledging OUD having higher rates of being treated for both depression and anxiety. Understanding a patient's mental health condition(s) can be impactful for the treatment of OUD. Multifaceted treatment options should include addressing nutritional deficiencies that impact cravings and long-term healing for patients. CONCLUSION: Nutrition and mental health are key parts of a multifaceted treatment modality for patients dealing with OUD. Assisting patients in treatment for depression and anxiety as well as nutrition can change the trajectory of a patient's opioid use recovery.


Subject(s)
Mental Health , Opioid-Related Disorders , Humans , Opioid-Related Disorders/psychology , Opioid-Related Disorders/epidemiology , Opioid-Related Disorders/therapy , Male , Female , Adult , Middle Aged , Nutritional Status , Surveys and Questionnaires , Diet, Healthy
3.
J Cutan Pathol ; 2024 Jul 12.
Article in English | MEDLINE | ID: mdl-38993097

ABSTRACT

Histiocytoid Sweet syndrome (H-SS) is a histopathological variant of Sweet syndrome (SS) defined by cutaneous infiltration of immature myeloid cells morphologically resembling histiocytes. The association of H-SS with underlying malignancy, particularly myelodysplastic syndromes, is well-established. Myelodysplasia cutis (MDS-cutis) has been proposed to describe cases historically diagnosed as H-SS but characterized by shared clonality of the myeloid infiltrate in skin and bone marrow. Therefore, identifying patients who might have MDS-cutis is critical for the management of the associated hematologic malignancy. VEXAS syndrome, an adult-onset autoinflammatory disease, should also be included in the histopathologic differential diagnosis of H-SS, as it shares clinical and pathologic features with MDS-cutis. Through the presentation of two cases, we aim to highlight the defining features and key clinical implications of MDS-cutis and VEXAS syndrome.

4.
Eur Respir Rev ; 33(173)2024 Jul.
Article in English | MEDLINE | ID: mdl-38960612

ABSTRACT

Bronchiectasis is a heterogeneous disease with multiple aetiologies and diverse clinical features. There is a general consensus that optimal treatment requires precision medicine approaches focused on specific treatable disease characteristics, known as treatable traits. Identifying subtypes of conditions with distinct underlying biology (endotypes) depends on the identification of biomarkers that are associated with disease features, prognosis or treatment response and which can be applied in clinical practice. Bronchiectasis is a disease characterised by inflammation, infection, structural lung damage and impaired mucociliary clearance. Increasingly there are available methods to measure each of these components of the disease, revealing heterogeneous inflammatory profiles, microbiota, radiology and mucus and epithelial biology in patients with bronchiectasis. Using emerging biomarkers and omics technologies to guide treatment in bronchiectasis is a promising field of research. Here we review the most recent data on biomarkers in bronchiectasis.


Subject(s)
Biomarkers , Bronchiectasis , Predictive Value of Tests , Bronchiectasis/therapy , Bronchiectasis/diagnosis , Bronchiectasis/physiopathology , Humans , Prognosis , Lung/physiopathology , Lung/microbiology , Inflammation Mediators/metabolism , Precision Medicine , Animals , Phenotype
5.
Soc Sci Med ; 355: 117112, 2024 Jul 18.
Article in English | MEDLINE | ID: mdl-39029443

ABSTRACT

Risk communication is a key legal and ethical component of shared decision-making. Decisions about total knee replacement, a common surgery, must contend with the fact that a minority of cases result in unintended outcomes, some of which have devastating effects. To understand how risks are communicated during decision-making, we audio-recorded and analysed 62 consultations between surgeons and patients. Various communication methods were evident, including listing risks without elaboration, discussing them in a conversational manner, abrogating discussion of risk, or using decision-tools. Discussion of risks was often brief in nature, and risk communication was sometimes curtailed or deferred by both patients and surgeons. Risks could also be observed to play a part in reinforcing policy norms of the doctor-patient relationship that highlighted patient responsibility. Nevertheless, patients and surgeons in the observed consultations appeared more interested in developing trusting relationships than in discussing risks. Because patients had sometimes experienced considerable deterioration in their knee function before their consultation, were in pain and struggled with mobility, the realities of clinical practice clashed with the policy norms of choice and patient responsibility. Rather, decisions could appear coerced by the disease process rather than being clear-cut examples of self-determination. While policy norms putatively use risk disclosure to frame communication between patients and clinicians as a transaction between customer and technician, the lack of conformity to these norms in the consultations may indicate resistance to this framing. A greater emphasis on determining positive roles for trust and care would help policy to present a nuanced understanding of decision-making. Risk communication could be seen as a factor in the formation of trusting relationships, improving its role in decision-making processes while recognising its inherent tensions with practice.

6.
medRxiv ; 2024 Jun 15.
Article in English | MEDLINE | ID: mdl-38947071

ABSTRACT

Cannabis is one of the most widely used drugs globally. Decriminalization of cannabis is further increasing cannabis consumption. We performed genome-wide association studies (GWASs) of lifetime (N=131,895) and frequency (N=73,374) of cannabis use. Lifetime cannabis use GWAS identified two loci, one near CADM2 (rs11922956, p=2.40E-11) and another near GRM3 (rs12673181, p=6.90E-09). Frequency of use GWAS identified one locus near CADM2 (rs4856591, p=8.10E-09; r2 =0.76 with rs11922956). Both traits were heritable and genetically correlated with previous GWASs of lifetime use and cannabis use disorder (CUD), as well as other substance use and cognitive traits. Polygenic scores (PGSs) for lifetime and frequency of cannabis use associated cannabis use phenotypes in AllofUs participants. Phenome-wide association study of lifetime cannabis use PGS in a hospital cohort replicated associations with substance use and mood disorders, and uncovered associations with celiac and infectious diseases. This work demonstrates the value of GWASs of CUD transition risk factors.

7.
Eur Respir Rev ; 33(173)2024 Jul.
Article in English | MEDLINE | ID: mdl-39048130

ABSTRACT

Bronchiectasis presents a significant challenge due to its rising prevalence, associated economic burden and clinical heterogeneity. This review synthesises contemporary understanding and literature of bronchiectasis exacerbations, addressing the transition from stable state to exacerbations, underlining the importance of early and precise recognition, rigorous severity assessment, prompt treatment, and prevention measures, as well as emphasising the need for strategies to assess and improve early and long-term patient outcomes. The review highlights the interplay between stable state phases and exacerbations in bronchiectasis, introducing the concept of "exogenous and endogenous changes in airways homeostasis" and the "adapted island model" with a particular focus on "frequent exacerbators", a group of patients associated with specific clinical characteristics and worse outcomes. The pathophysiology of exacerbations is explored through the lens of microbial and nonmicrobial triggers and the presence and the activity of comorbidities, elaborating on the impact of both exogenous insults, such as infections and pollution, and endogenous factors such as inflammatory endotypes. Finally, the review proposes a multidisciplinary approach to care, integrating advancements in precision medicine and biomarker research, paving the way for tailored treatments that challenge the traditional antibiotic paradigm.


Subject(s)
Bronchiectasis , Disease Progression , Bronchiectasis/physiopathology , Bronchiectasis/therapy , Bronchiectasis/diagnosis , Bronchiectasis/epidemiology , Humans , Risk Factors , Lung/physiopathology , Comorbidity , Prognosis , Anti-Bacterial Agents/therapeutic use , Severity of Illness Index , Host-Pathogen Interactions , Treatment Outcome , Inflammation Mediators/metabolism
9.
Arthroplast Today ; 28: 101438, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39071091

ABSTRACT

Tenosynovial giant cell tumor (TGCT) occurs in both diffuse and localized forms. While diffuse TGCT is an uncommon but well-described complication after total knee arthroplasty (TKA), localized TGCT has only once been previously described as a postoperative complication after TKA. We report on the diagnosis and management of a patient who developed postoperative localized TGCT after routine TKA and underwent uncomplicated removal. Postoperatively the patient noted a resolution of pain and mechanical symptoms. Early consideration of this rare occurrence after TKA can prevent significant pain and disability due to delayed diagnosis.

10.
Bone Jt Open ; 5(6): 464-478, 2024 Jun 03.
Article in English | MEDLINE | ID: mdl-38828864

ABSTRACT

Aims: During total knee replacement (TKR), surgeons can choose whether or not to resurface the patella, with advantages and disadvantages of each approach. Recently, the National Institute for Health and Care Excellence (NICE) recommended always resurfacing the patella, rather than never doing so. NICE found insufficient evidence on selective resurfacing (surgeon's decision based on intraoperative findings and symptoms) to make recommendations. If effective, selective resurfacing could result in optimal individualized patient care. This protocol describes a randomized controlled trial to evaluate the clinical and cost-effectiveness of primary TKR with always patellar resurfacing compared to selective patellar resurfacing. Methods: The PAtellar Resurfacing Trial (PART) is a patient- and assessor-blinded multicentre, pragmatic parallel two-arm randomized superiority trial of adults undergoing elective primary TKR for primary osteoarthritis at NHS hospitals in England, with an embedded internal pilot phase (ISRCTN 33276681). Participants will be randomly allocated intraoperatively on a 1:1 basis (stratified by centre and implant type (cruciate-retaining vs cruciate-sacrificing)) to always resurface or selectively resurface the patella, once the surgeon has confirmed sufficient patellar thickness for resurfacing and that constrained implants are not required. The primary analysis will compare the Oxford Knee Score (OKS) one year after surgery. Secondary outcomes include patient-reported outcome measures at three months, six months, and one year (Knee injury and Osteoarthritis Outcome Score, OKS, EuroQol five-dimension five-level questionnaire, patient satisfaction, postoperative complications, need for further surgery, resource use, and costs). Cost-effectiveness will be measured for the lifetime of the patient. Overall, 530 patients will be recruited to obtain 90% power to detect a four-point difference in OKS between the groups one year after surgery, assuming up to 40% resurfacing in the selective group. Conclusion: The trial findings will provide evidence about the clinical and cost-effectiveness of always patellar resurfacing compared to selective patellar resurfacing. This will inform future NICE guidelines on primary TKR and the role of selective patellar resurfacing.

11.
Hum Pathol ; 150: 1-8, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38876201

ABSTRACT

Sweat gland neoplasms represent a challenging area of dermatopathology, as they are relatively uncommon and often histopathologically complex. Recent studies have uncovered distinct immunohistochemical and molecular profiles in several sweat gland neoplasms, including digital papillary adenocarcinoma (DPA), papillary eccrine adenoma/tubular apocrine adenoma (PEA/TAA), poroid family tumors (PFT)/porocarcinoma, and clear cell hidradenoma (CCH)/clear cell hidradenocarcinoma (CCHCa). To further evaluate the diagnostic utility of ancillary studies in various sweat gland neoplasms, we performed an independent validation study in a cohort of patients with acral and non-acral tumors (9 DPA, 8 PEA/TAA, 13 PFT, 5 porocarcinoma, 23 CCH, 7 CCHCa, 6 sweat gland carcinoma not otherwise specified). p63 immunohistochemistry (IHC) demonstrated a myoepithelial pattern in 8/8 DPA and 4 of 4 tested PEA/TAA cases, and showed a ductal pattern in all tested PFT/porocarcinoma and CCH/CCHCa cases (42/42). All PEA/TAA (8/8) cases were positive for BRAF V600E IHC. 5 of 12 tested PFT and 5/5 porocarcinoma cases showed either positive staining with NUT IHC or harbored YAP1::NUTM1 fusion gene by RNA sequencing. MAML2 fluorescence in situ hybridization (FISH) was positive in all CCH and CCHCa cases (23/23 and 7/7, respectively). Our results further support the usefulness of appropriate ancillary studies in precise classification of sweat gland tumors, which may be routinely applied in diagnostic pathology practice when morphologic evaluation is in doubt.


Subject(s)
Biomarkers, Tumor , Immunohistochemistry , Sweat Gland Neoplasms , Humans , Sweat Gland Neoplasms/pathology , Sweat Gland Neoplasms/genetics , Sweat Gland Neoplasms/diagnosis , Sweat Gland Neoplasms/classification , Biomarkers, Tumor/analysis , Biomarkers, Tumor/genetics , Male , Female , Middle Aged , Aged , Adult , Aged, 80 and over , Reproducibility of Results , In Situ Hybridization, Fluorescence , Transcription Factors/analysis , Predictive Value of Tests
12.
Article in English | MEDLINE | ID: mdl-38906991

ABSTRACT

Individuals with schizophrenia frequently experience co-occurring substance use, including tobacco smoking and heavy cannabis use, and substance use disorders. There is interest in understanding the extent to which these relationships are causal, and to what extent shared genetic factors play a role. We explored the relationships between schizophrenia (Scz; European ancestry N = 161,405; African ancestry N = 15,846), cannabis use disorder (CanUD; European ancestry N = 886,025; African ancestry N = 120,208), and ever-regular tobacco smoking (Smk; European ancestry N = 805,431; African ancestry N = 24,278) using the largest available genome-wide studies of these phenotypes in individuals of African and European ancestries. All three phenotypes were positively genetically correlated (rgs = 0.17-0.62). Genetic instrumental variable analyses suggested the presence of shared heritable factors, but evidence for bidirectional causal relationships was also found between all three phenotypes even after correcting for these shared genetic factors. We identified 327 pleiotropic loci with 439 lead SNPs in the European ancestry data, 150 of which were novel (i.e., not genome-wide significant in the original studies). Of these pleiotropic loci, 202 had lead variants which showed convergent effects (i.e., same direction of effect) on Scz, CanUD, and Smk. Genetic variants convergent across all three phenotypes showed strong genetic correlations with risk-taking, executive function, and several mental health conditions. Our results suggest that both shared genetic factors and causal mechanisms may play a role in the relationship between CanUD, Smk, and Scz, but longitudinal, prospective studies are needed to confirm a causal relationship.

13.
Psychol Med ; : 1-14, 2024 May 09.
Article in English | MEDLINE | ID: mdl-38721768

ABSTRACT

BACKGROUND: Although the link between alcohol involvement and behavioral phenotypes (e.g. impulsivity, negative affect, executive function [EF]) is well-established, the directionality of these associations, specificity to stages of alcohol involvement, and extent of shared genetic liability remain unclear. We estimate longitudinal associations between transitions among alcohol milestones, behavioral phenotypes, and indices of genetic risk. METHODS: Data came from the Collaborative Study on the Genetics of Alcoholism (n = 3681; ages 11-36). Alcohol transitions (first: drink, intoxication, alcohol use disorder [AUD] symptom, AUD diagnosis), internalizing, and externalizing phenotypes came from the Semi-Structured Assessment for the Genetics of Alcoholism. EF was measured with the Tower of London and Visual Span Tasks. Polygenic scores (PGS) were computed for alcohol-related and behavioral phenotypes. Cox models estimated associations among PGS, behavior, and alcohol milestones. RESULTS: Externalizing phenotypes (e.g. conduct disorder symptoms) were associated with future initiation and drinking problems (hazard ratio (HR)⩾1.16). Internalizing (e.g. social anxiety) was associated with hazards for progression from first drink to severe AUD (HR⩾1.55). Initiation and AUD were associated with increased hazards for later depressive symptoms and suicidal ideation (HR⩾1.38), and initiation was associated with increased hazards for future conduct symptoms (HR = 1.60). EF was not associated with alcohol transitions. Drinks per week PGS was linked with increased hazards for alcohol transitions (HR⩾1.06). Problematic alcohol use PGS increased hazards for suicidal ideation (HR = 1.20). CONCLUSIONS: Behavioral markers of addiction vulnerability precede and follow alcohol transitions, highlighting dynamic, bidirectional relationships between behavior and emerging addiction.

14.
Orthop J Sports Med ; 12(5): 23259671241249688, 2024 May.
Article in English | MEDLINE | ID: mdl-38757068

ABSTRACT

Background: Although several studies have noted that patients are routinely overprescribed opioids, few have reported usage after arthroscopic surgery. Purpose: To determine opioid consumption and allocation for unused opioids after common arthroscopic surgeries. Study Design: Case series; Level of evidence, 4. Methods: Patients between the ages of 15 and 40 years who were scheduled to undergo anterior cruciate ligament reconstruction (ACLR), labral repair of the hip or shoulder, meniscectomy, or meniscal repair were prospectively enrolled. Patients were prescribed either 5 mg hydrocodone-325 mg acetaminophen or 5 mg oxycodone-325 mg acetaminophen based on surgeon preference. Patients completed a daily opioid usage survey during the 2-week postoperative period. In addition, patients completed a survey on postoperative day 21 inquiring about continued opioid use and medication disposal, if applicable. Opioid medication consumption was converted to morphine milligram equivalents (MMEs). Results: Of the 200 patients who were enrolled in the study, 176 patients had sufficient follow-up after undergoing 85 (48%) ACLR, 26 (14.8%) hip labral repair, 34 (19.3%) shoulder labral repair, 18 (10.2%) meniscectomy, and 13 (7.4%) meniscal repair procedures. Mean age was 26.1 years (SD, 7.38); surgeons prescribed a mean of 26.6 pills whereas patients reported consuming a mean of 15.5 pills. The mean MME consumption in the 14 days after each procedure was calculated: ACLR (95.7; 44% of prescription), hip labral repair (84.8; 37%), shoulder labral repair (57.2; 35%), meniscectomy (18.4; 27%), and meniscal repair (32.1; 42%). This corresponded to approximately 39% of the total opioid prescription being utilized across all procedures. Mean MME consumption was greatest on postoperative day 1 in hip, shoulder, and meniscal procedures and on postoperative day 2 in ACLR. Only 7.04% of patients reported continued opioid use in the third postoperative week. Patients had a mean of 11 unused pills or 77.7 MMEs remaining. Of the patients with remaining medication, 24.7% intended to keep their medication for future use. Conclusion: The results of our study indicate that patients who undergo the aforementioned arthroscopic procedures consume <75 MMEs in the 2-week postoperative period, translating into a mean of 10 to 15 pills consumed. Approximately 60% of total opioids prescribed went unused, and one-fourth of patients intended to keep their remaining medication for future usage. We have provided general prescribing guidelines and recommend that surgeons carefully consider customizing their opioid prescriptions on the basis of procedure site to balance optimal postoperative analgesia with avoidance of dissemination of excess opioids.

15.
J Cutan Pathol ; 51(9): 696-704, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38783791

ABSTRACT

BACKGROUND: Technology has revolutionized not only direct patient care but also diagnostic care processes. This study evaluates the transition from glass-slide microscopy to digital pathology (DP) at a multisite academic institution, using mixed methods to understand user perceptions of digitization and key productivity metrics of practice change. METHODS: Participants included dermatopathologists, pathology reporting specialists, and clinicians. Electronic surveys and individual or group interviews included questions related to technology comfort, trust in DP, and rationale for DP adoption. Case volumes and turnaround times were abstracted from the electronic health record from Qtr 4 2020 to Qtr 1 2023 (inclusive). Data were analyzed descriptively, while interviews were analyzed using methods of content analysis. RESULTS: Thirty-four staff completed surveys and 22 participated in an interview. Case volumes and diagnostic turnaround time did not differ across the institution during or after implementation timelines (p = 0.084; p = 0.133, respectively). 82.5% (28/34) of staff agreed that DP improved the sign-out experience, with accessibility, ergonomics, and annotation features described as key factors. Clinicians reported positive perspectives of DP impact on patient safety and interdisciplinary collaboration. CONCLUSIONS: Our study demonstrates that DP has a high acceptance rate, does not adversely impact productivity, and may improve patient safety and care collaboration.


Subject(s)
Dermatology , Humans , Dermatology/methods , Surveys and Questionnaires , Skin Diseases/pathology , Skin Diseases/diagnosis , Microscopy/methods , Academic Medical Centers , Pathology, Clinical/methods , Telepathology
16.
Neurotoxicol Teratol ; 103: 107351, 2024.
Article in English | MEDLINE | ID: mdl-38604316

ABSTRACT

BACKGROUND: Increasing cannabis use among pregnant people and equivocal evidence linking prenatal cannabis exposure to adverse outcomes in offspring highlights the need to understand its potential impact on pregnancy and child outcomes. Assessing cannabis use during pregnancy remains a major challenge with potential influences of stigma on self-report as well as detection limitations of easily collected biological matrices. OBJECTIVE: This descriptive study examined the concordance between self-reported (SR) cannabis use and urine drug screen (UDS) detection of cannabis exposure during the first trimester of pregnancy and characterized concordant and discordant groups for sociodemographic factors, modes of use, secondhand exposure to cannabis and tobacco, and alcohol use and cotinine positivity. STUDY DESIGN: The Cannabis Use During Development and Early Life (CUDDEL) Study is an ongoing longitudinal study that recruits pregnant individuals presenting for obstetric care, who report lifetime cannabis use as well as using (n = 289) or not using cannabis (n = 169) during pregnancy. During the first trimester pregnancy visit, SR of cannabis use and a UDS for cannabis, other illicit drugs and nicotine are acquired from eligible participants, of whom 333 as of 05/01/2023 had both. RESULTS: Using available CUDDEL Study data on both SR and UDS (n = 333; age 26.6 ± 4.7; 88.6% Black; 45.4% below federal poverty threshold; 56.5% with paid employment; 89% with high school education; 22% first pregnancy; 12.3 ± 3.6 weeks gestation), we classified pregnant individuals with SR and UDS data into 4 groups based on concordance (k = 0.49 [95% C.I. 0.40-0.58]) between SR cannabis use and UDS cannabis detection during the first trimester: 1) SR+/UDS+ (n = 107); 2) SR-/UDS- (n = 142); 3) SR+/UDS- (n = 44); 4) SR-/UDS+ (n = 40). Those who were SR+/UDS- reported less frequent cannabis use and fewer hours under the influence of cannabis during their pregnancy. Those who were SR-/UDS+ were more likely to have joined the study at a lower gestational age with 62.5% reporting cannabis use during their pregnancy prior to being aware that they were pregnant. Of the 40 SR-/UDS+ women, 14 (i.e., 35%) reported past month secondhand exposure, or blunt usage. In the subset of individuals with SR and UDS available at trimester 2 (N = 160) and 3 (N = 140), concordant groups were mostly stable and > 50% of those in the discordant groups became concordant by the second trimester. Classifying individuals as exposed or not exposed who were SR+ and/or UDS+ resulted in minor changes in group status based on self-report at screening. CONCLUSION: Overall, there was moderate concordance between SR and UDS for cannabis use/exposure during pregnancy. Instances of SR+/UDS- discordancy may partially be attributable to lower levels of use that are not detected on UDS. SR-/UDS+ discordancy may arise from recent use prior to knowledge of pregnancy, extreme secondhand exposure, deception, and challenges with completing questionnaires. Acquiring both self-report and biological detection of cannabis use/exposure allows for the examination of convergent evidence. Classifying those who are SR+ and/or UDS+ as individuals who used cannabis during their first trimester after being aware of their pregnancy resulted in only a minor change in exposure status; thus, relying on self-report screening, at least in this population and within this sociocultural context likely provides an adequate approximation of cannabis use during pregnancy.


Subject(s)
Self Report , Substance Abuse Detection , Humans , Female , Pregnancy , Adult , Substance Abuse Detection/methods , Young Adult , Longitudinal Studies , Pregnancy Trimester, First/urine , Cannabis/adverse effects , Marijuana Use/urine , Marijuana Use/epidemiology , Cotinine/urine , Adolescent , Marijuana Smoking/urine
17.
Nat Hum Behav ; 8(6): 1177-1193, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38632388

ABSTRACT

Tobacco use disorder (TUD) is the most prevalent substance use disorder in the world. Genetic factors influence smoking behaviours and although strides have been made using genome-wide association studies to identify risk variants, most variants identified have been for nicotine consumption, rather than TUD. Here we leveraged four US biobanks to perform a multi-ancestral meta-analysis of TUD (derived via electronic health records) in 653,790 individuals (495,005 European, 114,420 African American and 44,365 Latin American) and data from UK Biobank (ncombined = 898,680). We identified 88 independent risk loci; integration with functional genomic tools uncovered 461 potential risk genes, primarily expressed in the brain. TUD was genetically correlated with smoking and psychiatric traits from traditionally ascertained cohorts, externalizing behaviours in children and hundreds of medical outcomes, including HIV infection, heart disease and pain. This work furthers our biological understanding of TUD and establishes electronic health records as a source of phenotypic information for studying the genetics of TUD.


Subject(s)
Tobacco Use Disorder , Humans , Tobacco Use Disorder/genetics , Genetic Predisposition to Disease/genetics , Genome-Wide Association Study , United States/epidemiology , Male , Female , Electronic Health Records
19.
Breathe (Sheff) ; 20(1): 230186, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38595938

ABSTRACT

Pneumonia is a clinical syndrome characterised by fever, cough and alveolar infiltration of purulent fluid, caused by infection with a microbial pathogen. It can be caused by infections with bacteria, viruses or fungi, but a causative organism is identified in less than half of cases. The most common type of pneumonia is community-acquired pneumonia, which is caused by infections acquired outside the hospital. Current guidelines for pneumonia diagnosis require imaging to confirm the clinical suspicion of pneumonia. Thus, imaging plays an important role in both the diagnosis and management of pneumonia, with each modality having specific advantages and limitations. Chest radiographs are commonly used but have limitations in terms of sensitivity and specificity. Lung ultrasound shows high sensitivity and specificity. Computed tomography scans offer higher diagnostic accuracy but involve higher radiation doses. Radiological patterns, including lobar, lobular and interstitial pneumonia, provide valuable insights into causative pathogens and treatment decisions. Understanding these radiological patterns is crucial for accurate diagnosis. In this review, we will summarise the most important aspects pertaining to the role of imaging in pneumonia and will highlight the imaging characteristics of the most common causative organisms.

20.
J Cutan Pathol ; 51(7): 538-548, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38556256

ABSTRACT

BACKGROUND: While the list of fusion-driven soft tissue neoplasms is expanding rapidly, their importance among cutaneous and superficial mesenchymal and adnexal neoplasms remains poorly understood. This challenge is especially evident in cases with ambiguous histopathology that are difficult to classify based on morphology. AIMS: Our goal was to investigate the benefits of next-generation sequencing in diagnosing complex cutaneous neoplasms. MATERIALS & METHODS: Departmental archives were searched for fusion-driven cutaneous neoplasms. Slides were retrieved and clinical information including follow-up was obtained. RESULTS: Fifteen cases occurred in eight female and seven male patients, with a median age of 26 years (range: 1-83) at diagnosis. Tumors involved the extremities (9), scalp (5), and head and neck (1). Predominant features included myoepithelial (5), nested spindled with clear cytoplasm (2), atypical adnexal/squamoid (2), small round blue cell (2), cellular spindled (3), and fibrohistiocytic morphology (1). Most frequently encountered fusions involved EWSR1 (6) fused to ERG (1), FLI1 (1), CREB1 (2), CREM (1), PBX3 (1), followed by PLAG1 (4) with LIFR (2), TRPS1 (1) and CHCHD7. Additional fusions encountered were YAP1::NUTM1, EML4::ALK, SS18::SSX1 (2), and a novel fusion: ACTB::ZMIZ2. Integration of histologic features and molecular findings led to final diagnoses of primary cutaneous Ewing sarcoma (2), soft tissue myoepithelioma (4), cutaneous syncytial myoepithelioma (1), cutaneous adnexal carcinoma (1), porocarcinoma (1), inflammatory myofibroblastic tumor (1), synovial sarcoma (2), clear cell sarcoma (2), and angiomatoid fibrous histiocytoma (1). DISCUSSION AND CONCLUSION: Our results show that fusion testing can be a helpful diagnostic tool, especially in cases with unusual or uncommon morphology in superficial sites. Furthermore, it can allow for the identification of potential therapeutic targets in some instances.


Subject(s)
Skin Neoplasms , Humans , Female , Male , Adult , Skin Neoplasms/pathology , Skin Neoplasms/genetics , Skin Neoplasms/metabolism , Middle Aged , Aged , Child , Adolescent , Aged, 80 and over , Child, Preschool , Infant , Oncogene Proteins, Fusion/genetics , High-Throughput Nucleotide Sequencing/methods , Transcription Factors/genetics , Neoplasms, Adnexal and Skin Appendage/pathology , Neoplasms, Adnexal and Skin Appendage/genetics , Neoplasms, Adnexal and Skin Appendage/diagnosis , Young Adult , Gene Rearrangement
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