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Frontiers in Pharmacology 2024
PubMed: 38957389
DOI: 10.3389/fphar.2024.1440937 -
Ophthalmic Genetics Jul 2024This case report explores the relationship between genetics and phenotypic variability in autosomal dominant vitreoretinochoroidopathy (ADVIRC). The study focuses on a...
BACKGROUND
This case report explores the relationship between genetics and phenotypic variability in autosomal dominant vitreoretinochoroidopathy (ADVIRC). The study focuses on a case presenting a novel mutation in the gene and its phenotype in the case's relatives, shedding light on the structural and functional intricacies underlying this rare ophthalmologic disorder.
CASE PRESENTATION
A 33-year-old female presented for consultation with a history of bilateral retinal damage accompanied by a complaint of decreased visual acuity, progressive visual field deficit, and night blindness over the past year. Ophthalmic examination revealed a distinctive phenotype, including fibrillar vitreous, pigmented cells, and atrophic hyperpigmented retina in the periphery which was suggestive of a diagnosis of ADVIRC. Genetic testing revealed a heterozygous c.1101-1 G>T variant in , a novel splice site mutation. Functional analysis confirmed its impact on pre-mRNA splicing, resulting in an in-frame deletion (p(Ser367_Asn579del)). Family investigation revealed varying degrees of ophthalmologic impairment in the patient's mother and half-sister, both carrying the same mutation.
CONCLUSIONS
This case report provides the first clinical description of the c.1101-1 G>T mutation in the gene associated with ADVIRC. The presence of intrafamilial variability, as evidenced by the differing clinical features observed in the index case and her half-sister, suggests the potential involvement of mechanisms influencing phenotype expression.: ADVIRC : autosomal dominant vitreoretinochoroidopathy; RNA : ribonucleic acid; RPE : retinal pigment epithelium.
PubMed: 38957071
DOI: 10.1080/13816810.2024.2368797 -
BMC Medicine Jul 2024The COVID-19 pandemic has had a significant impact on mental health, with evidence suggesting an enduring mental health crisis. Studies worldwide observed increased... (Observational Study)
Observational Study
BACKGROUND
The COVID-19 pandemic has had a significant impact on mental health, with evidence suggesting an enduring mental health crisis. Studies worldwide observed increased usage of antidepressants, anxiolytics, and hypnotics during the pandemic, notably among young people and women. However, few studies tracked consumption post-2021. Our study aimed to fill this gap by investigating whether the surge in the number psychotropic drug consumers in France persisted 2 years after the first lockdown, particularly focusing on age and gender differences.
METHODS
We conducted a national retrospective observational study based on the French national insurance database. We retrieved all prescriptions of anxiolytics, hypnotics, and antidepressants dispensed in pharmacies in France for the period 2015-2022. We performed interrupted time series analyses based on Poisson models for five age classes (12-18; 19-25; 26-50; 51-75; 76 and more) to assess the trend before lockdown, the gap induced and the change in trend after.
RESULTS
In the overall population, the number of consumers remained constant for antidepressants while it decreased for anxiolytics and hypnotics. Despite this global trend, a long-term increase was observed in the 12-18 and 19-25 groups for the three drug classes. Moreover, for these age classes, the increases were more pronounced for women than men, except for hypnotics where the trends were similar.
CONCLUSIONS
The number of people using antidepressants continues to increase more than 2 years after the first lockdown, showing a prolonged effect on mental health. This effect is particularly striking among adolescents and young adults confirming the devastating long-term impact of the pandemic on their mental health.
Topics: Humans; France; Female; COVID-19; Retrospective Studies; Adolescent; Adult; Young Adult; Middle Aged; Psychotropic Drugs; Child; Male; Aged; Antidepressive Agents; Anti-Anxiety Agents; Hypnotics and Sedatives; Pandemics; SARS-CoV-2; Sex Factors
PubMed: 38956514
DOI: 10.1186/s12916-024-03496-8 -
Scientific Reports Jul 2024The behavioral and neural responses to social exclusion were examined in women randomized to four conditions, varying in levels of attractiveness and friendliness....
The behavioral and neural responses to social exclusion were examined in women randomized to four conditions, varying in levels of attractiveness and friendliness. Informed by evolutionary theory, we predicted that being socially excluded by attractive unfriendly women would be more distressing than being excluded by unattractive women, irrespective of their friendliness level. Our results contradicted most of our predictions but provide important insights into women's responses to interpersonal conflict. Accounting for rejection sensitivity, P300 event-related potential amplitudes were largest when women were excluded by unattractive unfriendly women. This may be due to an expectancy violation or an annoyance with being excluded by women low on social desirability. An examination of anger rumination rates by condition suggests the latter. Only attractive women's attractiveness ratings were lowered in the unfriendly condition, indicating they were specifically punished for their exclusionary behavior. Women were more likely to select attractive women to compete against with one exception-they selected the Black attractive opponent less often than the White attractive opponent when presented as unfriendly. Finally, consistent with studies on retaliation in relation to social exclusion, women tended to rate competitors who rejected them as being more rude, more competitive, less attractive, less nice, and less happy than non-competitors. The ubiquity of social exclusion and its pointed emotional and physiological impact on women demands more research on this topic.
Topics: Humans; Female; Young Adult; Beauty; Adult; Psychological Distance; Social Desirability; Friends; Event-Related Potentials, P300; Adolescent; Face
PubMed: 38956123
DOI: 10.1038/s41598-024-65833-4 -
European Journal of Surgical Oncology :... Jun 2024Obesity is a public health concern with an increasing occurrence worldwide. Literature regarding impact of obesity on results after management of peritoneal...
Impact of obesity after cytoreductive surgery and intraperitoneal hyperthermic chemotherapy for rare peritoneal malignancies: Paradox of obesity or poor prognostic factor?
BACKGROUND
Obesity is a public health concern with an increasing occurrence worldwide. Literature regarding impact of obesity on results after management of peritoneal carcinomatosis is poor. Our aim was to compare postoperative and oncological outcomes after cytoreductive surgery and hyperthermic intraperitoneal chemotherapy for rare peritoneal malignancies according to the body mass index.
METHODS
All the patients managed by cytoreductive surgery and hyperthermic intraperitoneal chemotherapy for rare peritoneal malignancies (including mainly pseudomyxoma peritonei and peritoneal mesothelioma), between 1995 and 2020, were retrospectively included from the French national registry of rare peritoneal tumors.
RESULTS
1450 patients were retrospectively included (63.5 % female, mean age 54 ± 13 years). Patients were divided into two groups according to their body mass index: non-obese (n = 1248, 86 %) and obese (n = 202, 14 %). Overall morbidity was significantly lower in non-obese patients in comparison with obese patients (n = 532/1248, 43 % vs n = 106/202, 53 %, p = 0.009). Medical and surgical morbidities were significantly lower in non-obese patients in comparison with obese patients (423/1258, 34 % vs n = 86/202, 43 %, p = 0.02 and n = 321/1248, 26 % vs n = 67/202, 33 %, p = 0.003, respectively). One-, 5- and 10-year overall survivals were similar between non-obese and obese patients (95 %, 82 % and 70 % vs 94 %, 76 % and 63 %; p = 0.1). One-, 5- and 10-year disease free survivals were similar between non-obese and obese patients (84 %, 67 % and 61 % vs 79 %, 62 % and 56 %, p = 0.1).
CONCLUSION
Obese patients have to be carefully managed after cytoreductive surgery and hyperthermic intraperitoneal chemotherapy for rare peritoneal malignancies. Some perioperative prophylactic treatments could be specifically implemented to reduce thromboembolic events, metabolic and wound complications.
PubMed: 38954880
DOI: 10.1016/j.ejso.2024.108507 -
Journal of Psychosomatic Research Jun 2024Heart rate variability (HRV) reflects the capacity to adapt to internal and environmental changes. Decreased HRV may indicate inadequate adaptive capacity. This study...
OBJECTIVES
Heart rate variability (HRV) reflects the capacity to adapt to internal and environmental changes. Decreased HRV may indicate inadequate adaptive capacity. This study aims to investigate the relationship between the heart and brain's adaptive abilities, both at rest and when negative emotions are stimulated in depression.
SUBJECTS AND METHODS
The study included 30 patients (20 female, 10 male) with major depression (mean age = 29.8 ± 7.8) and 30 healthy controls, all of whom had similar characteristics in terms of age and gender, selected through convenience sampling. The patients were drug-free at the time of the assessment. Holter recordings were obtained while subjects watched videos stimulating anger, fear, sadness, and a neutral video, and at rest, HRV parameters were calculated. To control for interindividual variability and account for paired sampling, linear mixed effects models were employed.
RESULTS
Watching the 'sadness video' led to an increase in low frequency band (LF) [LF change (Control vs depression); Difference:-620.80 df:107 t:-2.093 P:0.039] and LF/high frequency band ratio (LF/HF) [LF/HF change (control vs depression group); Difference:-1.718 df:105 t:-2.374 P:0.020] in the depression group. The video led to a decrease in LF and LF/HF in the controls. Although the differences between the conditions and interactions with the group were significant, the effects were independent of depression severity.
CONCLUSION
In depression, brain's regulatory effect on the heart differed from controls in the sadness condition, possibly due to increased arousal levels in subjects with depression and their inability to suppress sympathetic activity when a state of sadness is stimulated.
PubMed: 38954865
DOI: 10.1016/j.jpsychores.2024.111855 -
Hepatology (Baltimore, Md.) Jul 2024Baveno VII consensus suggests that screening endoscopy can be spared in patients with compensated cirrhosis when spleen stiffness measurement (SSM) by...
BACKGROUND AIMS
Baveno VII consensus suggests that screening endoscopy can be spared in patients with compensated cirrhosis when spleen stiffness measurement (SSM) by vibration-controlled transient elastography (VCTE) is ≤40 kPa as they have a low probability of high-risk varices (HRV). Conversely, screening endoscopy is required in all patients with porto-sinusoidal vascular disorder (PSVD). This study aimed to evaluate the performance of SSM-VCTE to rule out HRV in patients with PSVD and signs of portal hypertension.
APPROACH RESULTS
We retrospectively included patients with PSVD, ≥1 sign of portal hypertension, without history of variceal bleeding, who underwent a SSM-VCTE within 2 years before or after an upper endoscopy in 21 VALDIG centers, divided into a derivation and a validation cohort. 154 patients were included in the derivation cohort; 43% had HRV. By multivariable logistic regression analysis, SSM-VCTE >40 kPa and serum bilirubin ≥1 mg/dL were associated with HRV. SSM-VCTE ≤40 kPa combined with bilirubin <1 mg/dL had a sensitivity of 96% to rule out HRV, and could spare 38% of screening endoscopies, with 4% of HRV missed, and a 95% negative predictive value (NPV). In the validation cohort, including 155 patients, SSM combined with bilirubin could spare 21% of screening endoscopies, with 4% of HRV missed and a 94% NPV.
CONCLUSION
This study gathering a total of 309 PSVD patients showed that SSM-VCTE ≤40 kPa combined with bilirubin <1 mg/dL identifies patients with PSVD and portal hypertension with a probability of HRV <5%, in whom screening endoscopy can be spared.
PubMed: 38954825
DOI: 10.1097/HEP.0000000000001004 -
Time to improve the management of patients with suspected acute appendicitis: a retrospective study.Abdominal Radiology (New York) Jul 2024Preoperative imaging is now recommended in patients with suspected acute appendicitis (AA) by the World Society of Emergency Surgery. Our aims were (i) to describe our...
PURPOSE
Preoperative imaging is now recommended in patients with suspected acute appendicitis (AA) by the World Society of Emergency Surgery. Our aims were (i) to describe our local practice and (ii) to evaluate the efficiency of performing ultrasound (US) and/or computed tomography (CT) by assessing management failure, specificity and sensitivity, and length of stay in the emergency department (ED).
METHODS
This single-center retrospective study included all patients who underwent US or CT for the management of suspected AA. Patients were included if they were admitted to the ED in February or June between 2012 and 2021.
RESULTS
The study included 339 patients. US was performed in 278 patients (82%), of whom 91 also had a second-line CT (31.3%). There was a significant increase in the rate of CT over the inclusion period. Three percent (3%) of the patients had management failure and a higher age and CT or US + CT were significantly associated with the risk of management failure. Length of stay in the ED increased significantly when a second-line CT was performed. The sensitivity and specificity of US were 84.8% and 93.2%, respectively. Sensitivity was significantly different from CT (100%, p = 0.03) but not specificity (87.9%, p = 0.29). Both US and CT results were more likely to be considered for further management if positive. The vast majority of patients with negative or inconclusive results were admitted in surgical wards or underwent a second-line examination.
CONCLUSION
If available in the hospital together with CT, US should probably be performed systematically and as a first-line examination in patients with suspected acute appendicitis.
PubMed: 38954002
DOI: 10.1007/s00261-024-04471-w -
Epilepsia Jul 2024DYNC1H1 variants are involved on a disease spectrum from neuromuscular disorders to neurodevelopmental disorders. DYNC1H1-related epilepsy has been reported in small...
OBJECTIVE
DYNC1H1 variants are involved on a disease spectrum from neuromuscular disorders to neurodevelopmental disorders. DYNC1H1-related epilepsy has been reported in small cohorts. We dissect the electroclinical features of 34 patients harboring de novo DYNC1H1 pathogenic variants, identify subphenotypes on the DYNC1H1-related epilepsy spectrum, and compare the genotype-phenotype correlations observed in our cohort with the literature.
METHODS
Patients harboring de novo DYNC1H1 pathogenic variants were recruited through international collaborations. Clinical data were retrospectively collected. Latent class analysis was performed to identify subphenotypes. Multivariable binary logistic regression analysis was applied to investigate the association with DYNC1H1 protein domains.
RESULTS
DYNC1H1-related epilepsy presented with infantile epileptic spasms syndrome (IESS) in 17 subjects (50%), and in 25% of these individuals the epileptic phenotype evolved into Lennox-Gastaut syndrome (LGS). In 12 patients (35%), focal onset epilepsy was defined. In two patients, the epileptic phenotype consisted of generalized myoclonic epilepsy, with a progressive phenotype in one individual harboring a frameshift variant. In approximately 60% of our cohort, seizures were drug-resistant. Malformations of cortical development were noticed in 79% of our patients, mostly on the lissencephaly-pachygyria spectrum, particularly with posterior predominance in a half of them. Midline and infratentorial abnormalities were additionally reported in 45% and 27% of subjects. We have identified three main classes of subphenotypes on the DYNC1H1-related epilepsy spectrum.
SIGNIFICANCE
We propose a classification in which pathogenic de novo DYNC1H1 variants feature drug-resistant IESS in half of cases with potential evolution to LGS (Class 1), developmental and epileptic encephalopathy other than IESS and LGS (Class 2), or less severe focal or genetic generalized epilepsy including a progressive phenotype (Class 3). We observed an association between stalk domain variants and Class 1 phenotypes. The variants p.Arg309His and p.Arg1962His were common and associated with Class 1 subphenotype in our cohort. These findings may aid genetic counseling of patients with DYNC1H1-related epilepsy.
PubMed: 38953796
DOI: 10.1111/epi.18054 -
Frontiers in Public Health 2024To date there is no universally accepted model that describes the development of substance related addictive behavior. In order to address this gap, the study sought to...
OBJECTIVES
To date there is no universally accepted model that describes the development of substance related addictive behavior. In order to address this gap, the study sought to examine whether the association between primary emotions and the inclination toward addictive behavior is mediated by an anxious attachment style.
METHODS
The total sample consisted of 900 German speaking non-clinical adults (age: = 27; = 9.60; 71.6% female). Structural Equation Modeling (SEM) was applied to examine the connection between the primary emotions (SADNESS and ANGER), and the latent variables attachment anxiety and symptoms of addictive behavior.
RESULTS
Substance use symptomatology was correlated with higher attachment anxiety ( = 0.15), SADNESS ( = 0.15), and ANGER ( = 0.11). The effect of SADNESS on addictive behavior is mediated by attachment anxiety ( < 0.01) whereas ANGER had a direct effect on addictive behavior ( < 0.01). The final SEM explains 4% of the variance of addictive behaviors and 22% of attachment anxiety.
CONCLUSION
Our findings suggest that both SADNESS and ANGER, along with attachment anxiety, are dispositions that contribute to the risk of engaging in addictive behavior. However, while ANGER directly influences addictive behavior, SADNESS acts through its impact on attachment anxiety.
Topics: Humans; Female; Male; Adult; Behavior, Addictive; Anxiety; Substance-Related Disorders; Object Attachment; Anger; Germany; Emotions; Middle Aged; Surveys and Questionnaires; Young Adult; Sadness; Adolescent
PubMed: 38952738
DOI: 10.3389/fpubh.2024.1380539