Sdha OR SDHB OR SDHC OR SDHC OR SDHAF2 OR FH

An injectable hydrogel dressing, Zr/Fc-MOF@CuO2 @FH, was constructed by combing acid-triggered chemodynamic treatment (CDT) with low-temperature photothermal treatment (LT-PTT) to effectively eliminate bacteria without harming the surrounding normal tissues. The Zr/Fc-MOF acts as both photothermal reagent and nanozyme to generate reactive oxygen species (ROS). The CuO2 nanolayer can be decomposed by the acidic microenvironment of the bacterial infection to release Cu2+ and H2 O2 , which not only induces Fenton-like reaction but also enhances the catalytic capability of the Zr/Fc-MOF...

Lumbar spinal alignment is crucial for spine biomechanics and is linked to various spinal pathologies. However, limited research has explored gender-specific differences using CT scans. The objective was to evaluate and compare lumbar spinal alignment between standing and sitting CT in healthy individuals, focusing on gender differences. 24 young and 25 elderly males (M) and females (F) underwent standing and sitting CT scans to assess lumbar spinal alignment. Parameters measured and compared between genders included lumbar lordosis (LL), sacral slope (SS), pelvic tilt (PT), pelvic incidence (PI), lordotic angle (LA), foraminal height (FH), and bony boundary area (BBA)...

BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is a highly prevalent genetic disorder resulting in markedly elevated LDL cholesterol levels and premature coronary artery disease. FH underdiagnosis and undertreatment require novel detection methods. This study evaluated the effectiveness of using an LDL cholesterol cut-off ≥99.5th percentile (sex- and age-adjusted) to identify clinical and genetic FH, and investigated underutilization of genetic testing and undertreatment in FH patients...

BACKGROUND: Premature aortic involvement and comprehensive management strategies in familial hypercholesterolemia familial hypercholesterolemia (FH), a rare autosomal dominant genetic disorder, poses significant challenges due to its propensity for elevated low-density lipoprotein cholesterol, premature coronary heart disease, and vascular atherosclerosis. CASE PRESENTATION: Unraveling Cardiovascular Complexities: A Striking Familial Hypercholesterolemia. This case study delves into a remarkable instance of FH in a 16-year-old female who presented with chest pain and worsening dyspnea...

BACKGROUND: Temporomandibular disorder (TMD) is a grouping of heterogeneous disorders with multifactorial origins. Stabilization splints (SS) have demonstrated an acceptable treatment effect in TMD. The possible changes at the skeletal, dental, and soft tissue levels need to be addressed to evaluate the benefit/risk ratio of this therapeutic procedure. Accordingly, this study aimed to three‑dimensionally evaluate skeletal, dentoalveolar and soft tissue changes after SS treatment for patients with TMD...

Leiomyoma is the most prevalent benign tumor of the female reproductive system. Benign metastasizing leiomyoma (BML) is a rare phenomenon that presents at distant sites, typically the lungs, exhibiting histopathological features similar to the primary uterine tumor in the absence of malignancy features in both. Fumarate hydratase-deficient uterine leiomyoma (FH-d UL) is an uncommon subtype among uterine smooth muscle tumors (0.5-2%), showing distinctive histomorphology and FH inactivation. The majority of FH-d ULs are sporadic, caused by somatic FH inactivation, while a minority of cases occur in the context of the hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome caused by germline FH inactivation...

Women diagnosed with fumarate hydratase (FH)-deficient uterine leiomyomata are at increased risk of renal cancer. This work suggests a more standardized pathology-genetic counseling referral pathway for these patients, and that research on underlying causes of FH-deficient uterine leiomyomata in the absence of germline FH pathogenic/likely pathogenic variants is needed.

Introduction Direct comparisons of both short-term and long-term auxological outcome of growth hormone therapy (GHT) between growth hormone deficiency (GHD) and small for gestational age (SGA) are scarce. Methods 103 patients with GHD and 53 patients with SGA treated at our tertiary center were investigated. Short-term and long-term outcomes were compared between these groups using multi-variable linear regression models with adjustment for age, sex and height at therapy start, also allowing for sex-specific group comparisons...

PIWI-interacting RNAs (piRNAs) is an emerging class of small non-coding RNAs that has been recently reported to have functions in infertility, tumorigenesis, and multiple diseases in humans. Previously, 5 toxicity pathways were proposed from hundreds of toxicological studies that underlie BaP-induced lung injuries, and a "Bottom-up" approach was established to identify small non-coding RNAs that drive BaP-induced pulmonary effects by investigating the activation of these pathways in vitro, and the expression of the candidate microRNAs were validated in tissues of patients with lung diseases from publications...

The article examines financial hardship (FH) that appears as one of the essential socio-economic-financial categories reflecting a financial burden on society and therefore having a significant impact on the social and economic development of the country. The purpose of this article is to propose and approve a methodology for the complex quantitative assessment of financial difficulty, which allows comparing countries one another. The novelty of the conducted research is manifested by the formed financial hardship adequately exposing a system of indicators and suggesting the transformation of incomparable indicators into the comparable ones...

PURPOSE OF REVIEW: Cardiovascular disease is a leading cause of death worldwide. Dyslipidemia is a critical modifiable risk factor for the prevention of cardiovascular disease. Dyslipidemia affects a large population of women and is especially pervasive within racial/ethnic minorities. RECENT FINDINGS: Dyslipidemia in pregnancy leads to worse outcomes for patients and creates increased cardiovascular risk for women at an older age. However, women remain underscreened and undertreated compared to men...

Autosomal dominant hereditary paraganglioma-pheochromocytoma syndrome (HPPS) is a rare genetic disorder characterized by neuroendocrine tumor development associated with pathogenic variants in succinate dehydrogenase (SDH) enzyme complex genes. Particularly, HPPS linked to SDHB mutation poses a significant clinical challenge due to its association with aggressive tumor features and a high risk of malignancy. Our report underscores the diversity in the presentation of patients with SDHB-mutated paraganglioma and the feasibility of managing it with a minimally invasive surgical approach...

PURPOSE: To determine and compare the serum levels of complement Factor H (FH), monomeric C-Reactive Protein (mCRP) and pentameric C-Reactive protein (pCRP) in patients with age-related macular degeneration (AMD) and to correlate them with clinical, structural and functional parameters. METHODS: Cross-sectional observational study. One hundred thirty-nine individuals (88 patients and 51 healthy controls) from two referral centers were included and classified into three groups: early or intermediate AMD (n=33), advanced AMD (n=55), and age and sex matched healthy controls (n=51)...

BACKGROUND: The temporomandibular joint (TMJ) is closely related to the dynamic balance and stability of mandibular function and orthodontic treatment. Skeletal class II female patients are thought to be at high risk for TMJ disease. The relationship between the TMJ and craniofacial structures is still controversial. This study compared the morphology and position of the TMJ in skeletal class II adolescents and adults with various vertical facial types using cone-beam computed tomography (CBCT)...

BACKGROUND: Between 5 and 50% of atypical hemolytic uremic syndrome (aHUS) cases in children are caused by autoantibodies against complement factor H (CFH). Given the acquired autoimmune nature of the disease, plasma exchange (PE) and various immunosuppressive treatments have been used. More recently, eculizumab has been proposed. METHODS: In this multicenter, retrospective study, we report outcomes of 12 children with anti-FH antibody-associated HUS treated with eculizumab associated with various immunosuppressive regimens...

Applying organic fertilizer is the main way to enhance soil fertility through the interfacial reaction between mineral and dissolved organic matter (DOM). However, the interfacial reaction between minerals and DOM may influence antimony(V) (Sb(V)) mobility in agricultural soils around antimony mines. In our study the ferrihydrite (Fh) was chosen as a representative mineral, to reveal the effect of its interaction with chicken manure organic fertilizer (CM-DOM) with Fh on Sb(V) migration. In this study, we investigated different organic matter molecular weights and C/Fe molar ratios...

PATIENTS AND METHODS: The primary endpoints were objective response rate (ORR) and disease control rate (DCR). Secondary endpoints were duration of response, blood pressure control, safety, overall and progression-free survival rates, MIBG uptake, and correlations with genetic background. RESULTS: The study included 25 patients. Twenty-four patients had distant metastases, 17 (68%) had hormonally active tumors, and 13 (52%) had previously received antineoplastic treatment...

Succinate dehydrogenase inhibitors (SDHIs), are frequently used against powdery mildew (PM) fungi, such as Erysiphe necator , the causal agent of grapevine PM. Fungicide resistance, however, hinders effective control. DNA-based monitoring facilitates the recognition of resistance. We aimed (i) to adapt an effective method to detect a widespread genetic marker of resistance to boscalid, a commonly used SDHI, and (ii) to study the co-occurrence of the marker with a marker of resistance to demethylase inhibitor (DMI) fungicides...

BACKGROUND: Up to 41% of intra- and extra-adrenal paragangliomas are linked to germline mutations with autosomal dominant transmission, which necessitates genetic testing for patients and their relatives.1-4 Certain alterations, such as the succinate dehydrogenase (SDH) subunit B gene mutation, are associated with a significant risk of extra-adrenal, malignant, and metastatic disease forms.4-7 This highlights the need for routine genetic counseling and diligent surveillance, as well as surgeon awareness of hereditary paraganglioma-pheochromocytoma syndrome (HPPS)...

Rhizopus nigricans (R. nigricans), one of the fungi that grows the fastest, is frequently discovered in postharvest fruits, it's the main pathogen of strawberry root rot. Flavonoids in Sedum aizoon L. (FSAL) is a kind of green and safe natural substance extracted from Sedum aizoon L. which has antifungal activity. In this study, the minimum inhibitory concentration (MIC) of FSAL on R. nigricans and cell apoptosis tests were studied to explore the inhibitory effect of FSAL on R. nigricans. The effects of FSAL on mitochondria of R...