Publications by authors named "Fisher S"

Background: Ambient air pollution is a serious problem in many Eastern European countries. Elevated levels of fine airborne particulate matter (PM) pollution in the former Soviet republics relative to the rest of Europe contribute to elevated rates of disease, especially cardiovascular disease (CVD).

Objective: Information on the underlying social and political causes of air pollution in Eastern Europe is important for pollution control and disease prevention.

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Background: Air pollution was responsible for an estimated 6.7 million deaths globally in 2019 and 197,000 deaths in the United States. Fossil fuel combustion is the major source.

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Purpose: Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11 missense variants.

Methods: We collected clinical information of individuals with ANKRD11 missense variants and evaluated phenotypic fit to KBG syndrome.

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The human placenta contains two specialized regions: the villous chorion where gases and nutrients are exchanged between maternal and fetal blood, and the smooth chorion (SC) which surrounds more than 70% of the developing fetus but whose cellular composition and function is poorly understood. Here, we use single cell RNA-sequencing to compare the cell types and molecular programs between these two regions in the second trimester human placenta. Each region consists of progenitor cytotrophoblasts (CTBs) and extravillous trophoblasts (EVTs) with similar gene expression programs.

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Background: Congenital diaphragmatic hernia (CDH) occurs when abnormal diaphragm development allows herniation of abdominal organs into the thoracic cavity. Its etiopathogenesis is not well understood, but cigarette smoking and alcohol exposure may impact diaphragm development. Using data from a large, population-based case-control study, we examined associations between maternal cigarette smoking and alcohol consumption and CDH in offspring.

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There is a direct correlation between population growth and food demand. As the global population continues to rise, there is a need to scale up food production to meet the food demand of the population. In addition, the arable land over time has lost its naturally endowed nutrients.

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Objective: Hidradenitis suppurativa (HS) is a chronic autoinflammatory skin disease with a higher prevalence in women. The disease results in a low quality of life as well as physical and psychological comorbidities. The authors sought to determine the effects of HS on women's self-perception and life experiences.

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Background: Recent studies have suggested a possible benefit of valaciclovir prophylaxis to prevent vertical transmission after a positive serologic screen for primary maternal cytomegalovirus infection during pregnancy, although its cost-effectiveness remains uncertain.

Objective: This study aimed to determine the circumstances under which universal first-trimester maternal serologic screening for maternal cytomegalovirus infection, with valaciclovir prophylaxis to prevent congenital cytomegalovirus, is cost-effective.

Study Design: This study was a decision analysis from the perspective of the pregnant person to assess whether universal maternal screening in the first trimester of pregnancy, with subsequent valaciclovir prophylaxis (8 g/day from the time of positive serologic screen for primary maternal cytomegalovirus infection to 21 weeks of gestation) for those who are acutely infected, is cost-effective compared with usual care (ie, no routine serologic screening but with amniocentesis if midtrimester sonographic findings suggest cytomegalovirus).

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Since 1951, the Epidemic Intelligence Service (EIS) of the U.S. Centers for Disease Control and Prevention (CDC) has trained physicians, nurses, scientists, veterinarians, and other allied health professionals in applied epidemiology.

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Article Synopsis
  • Previous studies indicate a connection between pregestational diabetes and birth defects, so the current research examines the effects of type 1 (PGD1) versus type 2 (PGD2) diabetes on birth defects using National Birth Defects Prevention Study data.
  • The study analyzed data from over 29,000 cases of birth defects and found that mothers with PGD1 and PGD2 had higher adjusted odds ratios for various defects, with the most significant risk linked to sacral agenesis.
  • The findings suggest that both types of diabetes are associated with a variety of birth defects across multiple body systems, highlighting the need for future research on glycemic control to better understand and prevent these risks.
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Antibodies that target immune checkpoints such as cytotoxic T lymphocyte antigen 4 (CTLA-4) and the programmed cell death protein 1/ligand 1 (PD-1/PD-L1) are now a treatment option for multiple cancer types. However, as a monotherapy, objective responses only occur in a minority of patients. Chemotherapy is widely used in combination with immune checkpoint blockade (ICB).

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The size of the esophageal hiatus is clinically important for preserving the integrity of the lower esophageal sphincter mechanism. The purpose of this study was to systematically establish the mean hiatal surface area (HSA) for normal North American adults under physiologic conditions and assess the relationship between sex and age on HSA. Multi-Detector Computer Tomogram (MDCT) images of the esophageal hiatus in 119 healthy adult subjects (61 males and 58 females with an age range of 24-88 years) were retrospectively analyzed using the multi-planar reconstruction (MPR) technique to directly measure their hiatal length (long axis), width (short axis) and surface area at end inspiration.

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Objective: This study aimed to examine the association between mindsets-established, but mutable beliefs that a person holds-and health-related quality of life in survivors of breast and gynecologic cancer.

Method: A cross-sectional survey study was conducted with breast and gynecologic cancer survivors. Measures included the Illness Mindset Questionnaire and Functional Assessment of Cancer Therapy-General (FACT-G).

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Background: Epidemiological evidence regarding the course and activity patterns of hidradenitis suppurativa (HS) is yet to be delineated.

Objective: To identify activity patterns of HS throughout the time axis and to outline predictors of recalcitrant disease course.

Methods: A population-based retrospective cohort study was performed to follow patients with HS (n = 4417) throughout the initial 10 years following their diagnosis.

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Background: Oncocytic adrenocortical neoplasms (OANs) are rare endocrine tumors that present as a spectrum from benign to malignant. The outcomes after surgical resection of the oncocytic variant of adrenocortical carcinoma remain poorly understood. We sought to characterize the clinicopathologic features of OAN and compare oncocytic adrenocortical carcinoma (OAC) with conventional adrenocortical carcinoma (ACC).

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Article Synopsis
  • In obstetrics and gynecology, it's crucial for healthcare providers to critically assess medical literature to implement evidence-based practices.
  • The text presents a systematic method for reviewing journal articles, highlighting different study designs, especially observational and experimental studies.
  • It also discusses the potential biases in these studies and emphasizes the importance of interpreting the validity and significance of research findings.
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Article Synopsis
  • - The study investigated the link between maternal alcohol consumption around conception and the risk of gastroschisis in babies, focusing on how this risk differs by maternal age.
  • - Results showed that younger mothers (under 25) had a significantly higher risk of gastroschisis if they consumed alcohol, compared to older mothers (25 and above), who did not show this increased risk.
  • - The findings suggest an additive interaction where alcohol consumption exacerbates the risk of gastroschisis primarily in younger mothers, indicating the need for targeted health guidance for this demographic.
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Background: Neuroendocrine tumors can cause ectopic Cushing syndrome, and most patients have metastatic disease at diagnosis. We identified risk factors for outcome, evaluated ectopic Cushing syndrome management, and explored the role of bilateral adrenalectomy in this population.

Methods: This was a retrospective study including patients with diagnosis of ectopic Cushing Syndrome secondary to neuroendocrine tumors with adrenocorticotropic hormone secretion treated at our quaternary referral center over a 40-year period (1980-2020).

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Article Synopsis
  • The human brain evolves over time, with changes in structure affecting mental health and diseases throughout life.
  • This study identifies genetic variants that influence brain growth and shrinkage, using data from 15,640 individuals and focusing on 15 brain structures.
  • Key genes linked to metabolism were found, highlighting connections to conditions like depression and schizophrenia, and suggesting that understanding these genetic factors could lead to insights about healthy and problematic brain development and aging.
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Background: Headache diaries are recommended for migraine management in primary care.

Objective: Determine the acceptability and use of a digital headache diary App for migraine METHODS: Evaluative prospective primary care cohort study in North of England. Part 1 was a postal survey; if responders were interested, in Part 2 participants trialled the digital N1-Headache App headache diary for 90 days, followed by survey feedback on the App's usability.

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Background: Anti-α4β7 (Vedolizumab) treats inflammatory bowel disease (IBD) by blocking the interaction between integrin α4β7 on leukocytes and mucosal addressin cell-adhesion molecule-1 (MAdCAM-1) on the gut endothelium. Women with IBD often require continuing biologic therapy during pregnancy to avoid disease flare. To date, there have been no reports of an increase in adverse events with Vedolizumab use during pregnancy.

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Purpose: Common diagnostic next-generation sequencing strategies are not optimized to identify inherited variants in genes associated with dominant neurodevelopmental disorders as causal when the transmitting parent is clinically unaffected, leaving a significant number of cases with neurodevelopmental disorders undiagnosed.

Methods: We characterized 21 families with inherited heterozygous missense or protein-truncating variants in CHD3, a gene in which de novo variants cause Snijders Blok-Campeau syndrome.

Results: Computational facial and Human Phenotype Ontology-based comparisons showed that the phenotype of probands with inherited CHD3 variants overlaps with the phenotype previously associated with de novo CHD3 variants, whereas heterozygote parents are mildly or not affected, suggesting variable expressivity.

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Article Synopsis
  • The study investigates how racial discrimination impacts substance use among Black adolescents by looking at both collective self-esteem (esteem related to group identity) and personal self-esteem.
  • A sample of 1,514 students from grades 5 to 12 was analyzed, revealing that experiences of discrimination lead to increased substance use due to lower self-esteem levels.
  • The results suggest that improving both personal and collective self-esteem could help reduce the negative effects of discrimination on substance use in Black youth.
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The European Synchrotron Radiation Facility (ESRF) has recently commissioned the new Extremely Brilliant Source (EBS). The gain in brightness as well as the continuous development of beamline instruments boosts the beamline performances, in particular in terms of accelerated data acquisition. This has motivated the development of new access modes as an alternative to standard proposals for access to beamtime, in particular via the "block allocation group" (BAG) mode.

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Temporal lobe epilepsy, a common drug-resistant epilepsy in adults, is primarily a limbic network disorder associated with predominant unilateral hippocampal pathology. Structural MRI has provided an in vivo window into whole-brain grey matter structural alterations in temporal lobe epilepsy relative to controls, by either mapping (i) atypical inter-hemispheric asymmetry; or (ii) regional atrophy. However, similarities and differences of both atypical asymmetry and regional atrophy measures have not been systematically investigated.

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