Sca

BACKGROUND: To investigate the genetics of early-onset progressive cerebellar ataxia in Iran, we conducted a study at the Children's Medical Center (CMC), the primary referral center for pediatric disorders in the country, over a three-year period from 2019 to 2022. In this report, we provide the initial findings from the national registry. METHODS: We selected all early-onset patients with an autosomal recessive mode of inheritance to assess their phenotype, paraclinical tests, and genotypes...

The diagnosis of solid pseudopapillary neoplasm of the pancreas (SPN) can be challenging due to potential confusion with other pancreatic neoplasms, particularly pancreatic neuroendocrine tumors (NETs), using current pathological diagnostic markers. We conducted a comprehensive analysis of bulk RNA sequencing data from SPNs, NETs, and normal pancreas, followed by experimental validation. This analysis revealed an increased accumulation of peroxisomes in SPNs. Moreover, we observed significant upregulation of the peroxisome marker ABCD1 in both primary and metastatic SPN samples compared with normal pancreas and NETs...

OBJECTIVE: This study was to evaluate the performance of noninvasive prenatal testing (NIPT) in detecting fetal chromosome disorders in pregnant women. METHODS: From October 1st, 2017, to December 31th, 2022, a total of 15,304 plasma cell free DNA-NIPT samples were collected for fetal chromosome disorders screening. The results of NIPT were validated by confirmatory invasive testing or clinical outcome follow-up. Further, NIPT performance between low-risk and high-risk groups, as well as singleton pregnancy and twin pregnancy groups was compared...

OBJECTIVES: Implantable cardioverter defibrillator (ICDs) for primary prevention (PP) of sudden cardiac arrest (SCA) is underutilized in developing countries. The Improve SCA study has identified a subset of 1.5 primary prevention (1.5PP) patients with a higher risk of SCA and a significant mortality benefit from ICD therapy. From the perspective of China's healthcare system, we evaluated the cost-effectiveness of ICD therapy vs. no ICD therapy among1.5PP patients with a view of informing clinical and policy decisions...

Injectable poly-L-lactic acid (PLLA-SCA) is used for the correction of shallow to deep nasolabial fold contour deficiencies, cheek wrinkles, and other facial wrinkles. In contrast to hyaluronan (HA) fillers, PLLA-SCA has a biostimulatory effect by activating resident fibroblasts to produce collagen, but the mechanisms are not known in detail at the molecular level. Therefore, our aim was to investigate the molecular effects of PLLA-SCA in a comprehensive in vitro study. Since PLLA-SCA-dependent collagen production in fibroblasts depends on the interaction with macrophages, we generated novel macrophage-containing 3D skin models...

BACKGROUND AND OBJECTIVES: Bone marrow mesenchymal stromal cells (BM-MSCs) are key elements of the hematopoietic niche and participate in the regulatory mechanisms of hematopoietic stem cells (HSCs). Hematological diseases can affect MSCs and their functions. However, the dysregulations caused by sickle cell disease (SCD) are not fully elucidated. This work explored changes in BM-MSCs and their relationship with age using sickle cell mice (Townes-SS). MATERIALS AND METHODS: BM-MSCs were isolated from Townes-SS, and control groups 30- and 60-day-old Townes-AA and C57BL/6 J...

Background. Sudden cardiac arrest (SCA), often also leading to sudden cardiac death (SCD), is a common complication in coronary artery disease. Despite the effort there is a lack of applicable prediction tools to identify those at high risk. We tested the association between the validated GRACE score and the incidence of SCA after myocardial infarction. Material and methods. A retrospective analysis of 1,985 patients treated for myocardial infarction (MI) between January 1st 2015 and December 31st 2018 and followed until the 31st of December of 2021...

IMPORTANCE: The reported phenotypes of men with 47,XXY and 47,XYY syndromes include tall stature, multisystem comorbidities, and poor health-related quality of life (HRQOL). However, knowledge about these sex chromosome aneuploidy (SCA) conditions has been derived from studies in the less than 15% of patients who are clinically diagnosed and also lack diversity in age and genetic ancestry. OBJECTIVES: To determine the prevalence of clinically diagnosed and undiagnosed X or Y chromosome aneuploidy among men enrolled in the Million Veteran Program (MVP); to describe military service metrics of men with SCAs; and to compare morbidity and mortality outcomes between men with SCA with and without a clinical diagnosis vs matched controls...

Although older adults with HIV are at high risk for mild neurocognitive disorders, a subset experience successful cognitive aging (SCA). HIV is associated with an increased risk of vascular depression (VasDep), which can affect cognitive and daily functioning. The current study examined whether VasDep impedes SCA among older adults with HIV. 136 persons with HIV aged 50 years and older were classified as either SCA+ (n = 37) or SCA- (n = 99) based on a battery of demographically adjusted neurocognitive tests and self-reported cognitive symptoms...

The metataxonomic diversity and microbial composition of microorganisms during the coffee fermentation process as well as their relationship with coffee quality were determined across 20 farms in the department of Cesar, Colombia, by sampling coffee fruits from Coffea arabica ; Var. Castillo General® , Var. Colombia, and Var. Cenicafé 1. In each farm, the fruits were processed and the fermentation process took place between 10 and 42 h following this. Three samples of mucilage and washed coffee seeds were collected per farm during the fermentation process...

PURPOSE: The present study aims to evaluate students' perceptions of different types of written assessment within the context of dental materials science and to identify how various learning styles exhibited by dental students, as well as gender and ethnicity, may influence their perceptions of these assessment methods. METHODS: The study was conducted among second-year dental students in a dental materials science class, during which students participated in a mock assessment that included extended matching questions (EMQs) and single correct answer (SCA) questions...

Instrument-tissue interaction detection task, which helps understand surgical activities, is vital for constructing computer-assisted surgery systems but with many challenges. Firstly, most models represent instrument-tissue interaction in a coarse-grained way which only focuses on classification and lacks the ability to automatically detect instruments and tissues. Secondly, existing works do not fully consider relations between intra-and inter-frame of instruments and tissues. In the paper, we propose to represent instrument-tissue interaction as ⟨instrument class, instrument bounding box, tissue class, tissue bounding box, action class⟩ quintuple and present an Instrument-Tissue Interaction Detection Network (ITIDNet) to detect the quintuple for surgery videos understanding...

INTRODUCTION: Until now, there has been limited evidence, primarily from US cohorts, focusing on frailty as a patient-oriented outcome after liver transplantation (LT). Our study aimed to explore the relationship between pre- and post-LT frailty in a multicenter European cohort of outpatients with cirrhosis undergoing LT. METHODS: We conducted a prospective analysis of data from 180 LT recipients recruited between 2018 and 2020 from 5 Spanish centers. Participants underwent objective and subjective frailty assessments using the Liver Frailty Index (LFI) and the Subjective Clinician Assessment (SCA) pretransplant and at 3- and/or 6-mo posttransplant...

Sudden cardiac arrest (SCA) is the abrupt loss of cardiac function that results in acute cardiovascular collapse and subsequent decreased or loss of various organ perfusion. Here, we present an interesting case of a 58-year-old man who developed abnormal brain MRI findings reflecting ongoing cardiac arrest due to pulseless electric activity (PEA) during an MRI scan. To our knowledge, this is the first case describing the MRI findings of ongoing cardiac arrest due to PEA. Our case is unique in imaging findings, which are not routinely encountered in day-to-day practice...

BACKGROUND: A fixed drug eruption (FDE) is an immunological cutaneous adverse reaction, classified as a cutaneous adverse drug reaction (CADR) and characterized by well-defined lichenoid lesions that occur at the same site each time. Ceftriaxone is a third-generation antibiotic of cephalosporin antibiotics of the beta-lactam antibiotic family, which has typical in vitro activity against many Gram-negative aerobic bacteria. This is the first clinical case from Saudi Arabia and the fifth in the world to document a woman's experience with recurrent FDE after repeated ceftriaxone use...

BACKGROUND AND OBJECTIVE: Difficult-to-treat aneurysms of the distal posterior cerebral artery (PCA) can often be treated by parent artery occlusion. A cerebrovascular bypass can complement PCA occlusion to curb the risk of ischemic complications. An in-situ bypass may be considered when the occipital artery or superficial temporal artery cannot serve as a bypass donor. This paper describes the use of a side-to-side bypass of superior cerebellar artery (SCA) as a donor to the posterior cerebral artery (PCA) via an extreme lateral supracerebellar infratentorial (ELSCIT) approach...

BACKGROUND: Comprehensive data on patients at high risk of sudden cardiac death (SCD) in emerging countries are lacking. The aim was to deepen our understanding of the SCD phenotype and identify risk factors for death among patients at high risk of SCD in emerging countries. METHODS: Patients who met the class I indication for implantable cardioverter-defibrillator (ICD) implantation according to guideline recommendations in 17 countries and regions underrepresented in previous trials were enrolled...

This article detailly describes the subtemporal-transtentorial STA-SCA bypass technique. Through temporal base drilling, copious cerebrospinal fluid evacuation before retraction, and sufficient retraction of the temporal lobe preserving the veins of the temporal base would be primodial to obtain an appropriate surgical field. Refrection of the tentrial free edge and identification of recipient SCA posterior to the entry point of the trochlear nerve into the cavernous sinus is a micro-anatomical key. Bilateral bayonet-type needle holders and forceps should be used not to shadow the surgical corridor with one's hands...

Accurate and timely diagnosis of posterior circulation stroke in patients with acute dizziness is a challenge that can lead to misdiagnosis and significant harm. The present review sought to identify and describe published research on the clinical application of vHIT in posterior circulation stroke. vHIT, a portable device, has gained prominence in evaluating peripheral vestibular disorders and offers potential applications in diagnosing neurological disorders, particularly posterior circulation stroke. Several studies have shown that vHIT can differentiate between stroke and vestibular neuritis based on VOR gain values, with high sensitivity and specificity...

The aim of this study was to determine the time between the first detection of postural control impairments and the evident manifestation of ataxia in preclinical SCA1 individuals. Twenty five preclinical SCA1 mutation carriers: 13 with estimated disease onset ≤ 6 years (SCA1 +) aged 27.8 ± 8.1 years; 12 with expected disease onset > 6 years (SCA1-) aged 26.6 ± 3.1 years and 26 age and sex matched healthy controls (HCs) underwent static posturography during 5 years of observation...