MODY

Giant coronary artery aneurysm (GCA) is a rare disease afflicting 0.2% of the population. It is primarily attributed to atherosclerosis in adults and Kawasaki disease in children. Other uncommon etiologies include Takayasu arteritis and post-percutaneous coronary intervention.1,2 GCA lacks a universally accepted definition, with proposed criteria including a diameter exceeding 2 cm, 5 cm, or four times the normal vessel size.3 While the majority of GCAs are asymptomatic, a subset of patients present with angina, myocardial infarction from embolization or compression, heart failure due to fistula formation, or even sudden death...

BACKGROUND: Despite the widespread use of ultra-massive transfusion (UMT) as an intervention for trauma patients in hemorrhagic shock, no standard definition exists. We performed a systematic review to determine a consensus definition for UMT. METHODS: A search was performed from 1979-2022. The authors screened studies defining UMT and associated outcomes as defined by our prespecified PICO questions. The PRISMA guidelines were used. RESULTS: 1662 articles met criteria for eligibility assessment, 17 for full-text review and eight for data extraction...

No abstract text is available yet for this article.

Approximately 60% of traditionally defined human epidermal growth factor receptor 2 (HER2)-negative breast cancers express low levels of HER2 [HER2-low; defined as immunohistochemistry (IHC) 1+ or IHC 2+/in situ hybridization (ISH)-]. HER2-low breast cancers encompass a large percentage of both hormone receptor-positive (up to 85%) and triple-negative (up to 63%) breast cancers. The DESTINY-Breast04 trial established that HER2-low tumors are targetable, leading to the approval of trastuzumab deruxtecan (T-DXd) as the first HER2-directed therapy for the treatment of HER2-low breast cancer in the United States and Europe...

The objectives of this study were to determine the effect of COVID-19 on physical therapy (PT) mobilization of trauma patients and to determine if mobilization affected patient course in the ICU. This retrospective study included patients who were admitted to the ICU of a level II trauma center. The patients were divided into two groups, i.e., those admitted before ( n = 378) and after ( n = 499) 1 April 2020 when Georgia's COVID-19 shelter-in-place order was mandated. The two groups were contrasted on nominal and ratio variables using Chi-square and Student's t -tests...

Development of functional tricuspid regurgitation (TR) because of chronic mitral disease and subsequent heart failure is common. However, the effect of TR on clinical outcomes after transcatheter mitral valve replacement (TMVR) remains unclear. We aimed to evaluate the impact of baseline TR on outcomes after TMVR. This was a single-center, retrospective analysis of patients who received valve-in-valve or valve-in-ring TMVR between 2012 and 2022. Patients were categorized into none/mild TR and moderate/severe TR based on baseline echocardiography...

PURPOSE: To explore the current trends in burnout, career choice regret, and well-being needs among urology residents and fellows, with specific emphasis on identifying key factors associated with burnout. MATERIALS AND METHODS: The American Urological Association (AUA) Workforce Workgroup collaborated with the AUA Data Team to analyze data from the 2021 AUA Census, comprising a total of 243 residents and fellows. Key demographics, benefits and resources, career choice and debt, and burnout levels were analyzed, focusing on variables like gender, postgraduate year (PGY) level, debt burden, and personal health appointments...

48 XXYY syndrome is a rare polyploidy often compared with Klinefelter syndrome because of shared features such as tall stature, neurocognitive diseases, hypogonadism, and cardiac malformations. This population is believed to be predisposed to type 2 diabetes because of the presence of hypogonadism and central adiposity. We present a patient with XXYY syndrome who had an atypical and difficult-to-manage diabetes presentation. The patient was nonadherent to medication regimen with poorly controlled diabetes and hemoglobin A1c ranging from 12% to 14% (16...

Chikungunya fever is an arboviral illness caused by chikungunya virus (CHIKV) and transmitted by the bite of Aedes aegypti and Aedes albopictus. It is an RNA virus belonging to the genus Alphavirus and family Togaviridae. We present a case series of three patients with chikungunya illness developing para/post-infectious myeloradiculoneuropathy.These patients developed neurological symptoms in the form of bilateral lower limb weakness with sensory and bowel involvement after the recovery from the initial acute episode of chikungunya fever...

Since depression is a common mental illness affecting an estimated 5% of people worldwide, investigators are encouraged to develop effective antidepressants. According to the monoamine-deficiency hypothesis, the underlying pathophysiology of depression is a deficiency of some neurotransmitters (serotonin, norepinephrine, or dopamine) in the central nervous system. The neurotransmitter serotonin has drawn the most attention concerning depression. As per research, 5-methoxy-N, N-dimethyltryptamine (5-MeO-DMT) elevates inter-synaptic serotonin levels when administered as a single inhalation of vapor from dried toad secretion and leads to higher life satisfaction, convergent thinking, higher ratings of mindfulness, lower ratings of depression, and anxiety...

In the human genome, heterozygous sites refer to genomic positions with a different allele or nucleotide variant on the maternal and paternal chromosomes. Resolving these allelic differences by chromosomal copy, also known as phasing, is achievable on a short-read sequencer when using a library preparation method that captures long-range genomic information. TELL-Seq is a library preparation that captures long-range genomic information with the aid of molecular identifiers (barcodes). The same barcode is used to tag the reads derived from the same long DNA fragment within a range of up to 200 kilobases (kb), generating linked-reads...

No abstract text is available yet for this article.

We found that a winter of abnormally low snowfall and numerous dust storms from eolian processes acting on exposed landscapes (including a major 4-day dust storm while onsite in May 2014) caused a cascade of impacts on the physical, chemical, and ecological functioning of the largest lake by volume in the High Arctic (Lake Hazen; Nunavut, Canada). MODIS imagery revealed that dust deposited in snowpacks on the lake's ice acted as light-absorbing impurities (LAIs), reducing surface reflectance and increasing surface temperatures relative to normal snowpack years, causing early snowmelt and drainage of meltwaters into the lake...

Succinylation is a highly conserved post-translational modification that is processed via enzymatic and non-enzymatic mechanisms. Succinylation exhibits strong effects on protein stability, enzyme activity, and transcriptional regulation. Protein succinylation is extensively present in the liver, and increasing evidence has demonstrated that succinylation is closely related to hepatic metabolism. For instance, histone acetyltransferase 1 promotes liver glycolysis, and the sirtuin 5-induced desuccinylation is involved in the regulation of the hepatic urea cycle and lipid metabolism...

Cancer cells can manipulate immune cells and escape from the immune system response. Quantifying the molecular changes that occur when an immune cell is touching a tumor cell can increase our understanding of the underlying mechanisms. Recently, it became possible to perform such measurements in situ, for example using expansion sequencing, which enabled in situ sequencing of genes with super-resolution. We systematically examined whether individual immune cells from specific cell types express genes differently when in physical proximity to individual tumor cells...

Precision medicine relies on accurate and consistent classification of sequence variants. A correct diagnosis of HNF1B-MODY, caused by pathogenic variants in the HNF1B gene, is important for optimal disease management and prognosis, and has implications for genetic counseling and follow-up of at-risk family members. In the present study, the hypothesis is that the functional characterization could provide valuable information to assist the interpretation of pathogenicity of HNF1B variants. Using different in vitro functional assays, seven variants were analyzed identified among 313 individuals suspected to have monogenic diabetes with or without kidney disease...

OBJECTIVE: Examine the influence of household income on health-related quality of life (HRQOL) among children with newly diagnosed acute myeloid leukemia (AML). DESIGN: Secondary analysis of data prospectively collected from pediatric patients receiving treatment for AML at 14 hospitals across the United States. EXPOSURE: Household income was self-reported on a demographic survey. The examined mediators included the acuity of presentation and treatment toxicity...

OBJECTIVE: Protocols to evaluate for myocardial infarction (MI) using high-sensitivity cardiac troponin (hs-cTn) have the potential to drive costs upward due to the added sensitivity. We performed an economic evaluation of an accelerated protocol (AP) to evaluate for MI using hs-cTn to identify changes in costs of treatment and length of stay compared with conventional testing. METHODS: We performed a planned secondary economic analysis of a large, cluster randomized trial across nine emergency departments (EDs) from July 2020 to April 2021...

AIMS: Previous structural, vascular density, and perfusion studies have mostly comprised type 1 and type 2 diabetes, even in the absence of retinopathy. The current study aimed to compare macular vessel density (VD) measurements between maturity-onset diabetes of the young (MODY) patients and controls. METHODS: The macular VD of superficial, deep retina, and choriocapillaris (CC), and central macular thickness (CMT), foveal avascular zone (FAZ), FAZ perimetry, VD of the total retina at 300 µm around the FAZ (FD), and acirculatory index (AI) measurements were taken and analyzed via OCT-A (RTVue XR 100-2 Avanti, AngioVue) and were compared between molecularly confirmed MODY (glucokinase (GCK) variants) patients and healthy controls...

The Forel Ule water color index (FUI) based on satellite inversion can characterize the comprehensive characteristics of water quality on a large spatiotemporal scale. The high-frequency observations and rich historical data of the MODIS surface reflectance product (MODIS-500 m) provide important data support for monitoring the FUI of inland lakes. However, MODIS-500 m has only three bands in the visible light range, resulting in significant uncertainty in FUI inversion. To address this problem, this study developed an improved FUI inversion model using 500 synthetic spectra covering natural waters...