Fhl

PURPOSE: Complement dysregulation is a key component in the pathogenesis of age-related macular degeneration (AMD) and related diseases such as early-onset macular drusen (EOMD). Although genetic variants of complement factor H (CFH) are associated with AMD risk, the impact of CFH and factor H-like protein 1 (FHL-1) expression on local complement activity in human retinal pigment epithelium (RPE) remains unclear. METHODS: We identified a novel CFH variant in a family with EOMD and generated patient induced pluripotent stem cell (iPSC)-derived RPE cells...

BACKGROUND: Although mutations in telomerase reverse transcriptase ( TERT ) promoter ( TERT p) are the most common alterations in glioblastoma (GBM), predicting TERT p mutation status by preoperative imaging is difficult. We determined whether tumour-surrounding hyperintense lesions on fluid-attenuated inversion recovery (FLAIR) were superior to those of contrast-enhanced lesions (CELs) in assessing TERT p mutation status using magnetic resonance imaging (MRI). METHODS: This retrospective study included 114 consecutive patients with primary isocitrate dehydrogenase (IDH)-wild-type GBM...

Escherichia coli uptake potassium ions with the coupling of proton efflux and energy utilization via proton FO F1 -ATPase. In this study contribution of formate hydrogen lyase (FHL) complexes in the proton/potassium fluxes and the formation of proton conductance (CM H+ ) were investigated using fhlA mutant strain. The proton flux rate (JH+ ) decreased in fhlA by ∼ 25 % and ∼70 % during the utilization of glucose and glycerol, respectively, at 20 h suggesting H+ transport via or through FHL complexes...

Purpose The current study examined functional health literacy (FHL) in regard to hazardous drinking among a sample with probable posttraumatic stress disorder (PTSD) and alcohol use disorder (AUD). Methods Participants were 565 adults with probable PTSD and hazardous alcohol use (52.2% female, 68.8% Non-Hispanic White, average age = 39.2 years ± 10.9 years). Results FHL literacy maintained statistically significant role in terms of hazardous drinking ( p  < ...

Nesprins comprise a family of multi-isomeric scaffolding proteins, forming the linker of nucleoskeleton-and-cytoskeleton complex with lamin A/C, emerin and SUN1/2 at the nuclear envelope. Mutations in nesprin-1/-2 are associated with Emery-Dreifuss muscular dystrophy (EDMD) with conduction defects and dilated cardiomyopathy (DCM). We have previously observed sarcomeric staining of nesprin-1/-2 in cardiac and skeletal muscle, but nesprin function in this compartment remains unknown. In this study we show that specific nesprin-2 isoforms are highly expressed in cardiac muscle and localise to the Z-disc and I band of the sarcomere...

BACKGROUND: Os trigonum and Stieda process are common etiologies for posterior ankle impingement syndrome (PAIS), and diagnosis is typically made by radiographs, computed tomographic, or magnetic resonance imaging. However, these static tests may not detect associated soft tissue and bony pathologies. Posterior ankle and hindfoot arthroscopy (PAHA) is dynamic, providing at least ×8 magnification with full anatomical visualization. The primary aim of this study was to report the prevalence of associated conditions seen with trigonal impingement treated with PAHA...

Accipitriformes are diverse in their prey preferences and use their grasping feet for hunting. Little is known about the architectural design of muscles related to grasping among species of different sizes, diets, and foraging behaviors. In the present study, we report quantitative data and analysis of the pelvic musculature of the Japanese sparrowhawk (Accipiter gularis), Eurasian sparrowhawk (Accipiter nisus), common buzzard (Buteo buteo), northern goshawk (Accipiter gentilis), and cinereous vulture (Aegypius monachus)...

We experienced two cases of intractable hallux ganglion. Case 1 was a 70-year-old woman with a recurrent ganglion and severe pain on the plantar aspect of the hallux. The continuity between the mass and the distal flexor hallucis longus (FHL) tendon sheath was confirmed. The ganglion was resected along with part of the tendon sheath, and the tendon sheath was incised as proximally as possible. Case 2 was a 69-year-old woman with a ganglion on the dorsal aspect of the interphalangeal joint that repeatedly ruptured due to thinning of the skin...

INTRODUCTION: The intraocular lens (IOL) can be used as a slow-release drug carrier in cataract surgery to alleviate posterior capsular opacification (PCO). The following is a systematic development of an IOL using methotrexate and the solvent casting process with poly (lactic-co-glycolic acid) (PLGA) as a carrier polymer. METHODS: Different solvents for PLGA and methotrexate were tested for dissolution properties and possible damage to the IOL. The required biological concentration of methotrexate was determined in human capsular bags implanted with an IOL...

To study the influence of the voltage total harmonic distortion (THDV) and its spectrum on the harmonic loss factor (FHL ) and the maximum allowable load capacity ratio (Imax (pu)) for the transformer of the LHCD system, we use MATLAB software to model the LHCD system and study the winding loss and maximum allowed load capacity of the LHCD system transformer when the supply voltage source is sinusoidal and non-sinusoidal, respectively. The calculation is carried out by the method of IEEE standard C57.110 and the method of considering the skin effect...

BACKGROUND: The proposed advantages of hamstring autograft reconstruction when compared to alternative procedures, such as flexor hallucis longus (FHL) transfer, V-Y lengthening, and allograft reconstruction, are improved healing and reproduction of normal tendon biomechanics and reduced morbidity within the foot and ankle. In this study, we examined the effect of Achilles tendon reconstruction using hamstring autografts on strength and functional outcomes. METHODS: Patients who underwent Achilles repair with a hamstring autograft for insertional or midsubstance tendinopathy, delayed diagnosis of rupture, or infection after primary repair were evaluated for inclusion...

BACKGROUND: Hemophagocytic Lymphohistiocytosis (HLH) is a rare and life-threatening condition characterized by a severe impairment of the immune homeostasis. While Familial-HLH (FHL) is a known cause, the involvement of other Inborn Errors of Immunity (IEI) in pediatric-HLH remains understudied. OBJECTIVE: This systematic review aimed to assess the clinical features, triggers, laboratory data, treatment, and outcomes of pediatric HLH patients with IEI other than FHL (IEInotFHL), emphasizing the importance of accurate identification and management...

Germline mutations in genes involved in perforin-granzyme-mediated cytotoxicity such as PRF1 , UNC13D , STX11 , and STXBP2 were known to cause familial hemophagocytic lymphohistiocytosis (FHL). In this study, we reported a unique group of 3 patients with germline mutations of UNC13D and STX11 genes and presented as adult-onset peripheral T-cell lymphoma (PTCL) with cytotoxic T-cell phenotype and atypical lymphoma presentations. CD107a degranulation assay and NK-cell activity analysis demonstrated impaired cytotoxic function of the NK/T-cells of the patients with FHL-related mutations...

INTRODUCTION: We evaluated the subjective donor-site morbidity and quality of life in patients with a free fibula flap (FFF) reconstruction in terms of self-reported symptoms, function and quality of life, and we compared inclusion vs. exclusion of the flexor hallucis longus (FHL) muscle in the graft, primary wound closure vs. skin graft and the occurrence vs. absence of donor-site complications. METHODS: In this cross-sectional study, patients who underwent a mandibula or maxilla reconstruction with a FFF between 2011 and 2021, were included...

Plants lack behavioral responses to avoid dramatic environmental changes associated with the annual seasons. For survival, they have evolved complex sensory systems to sense fluctuations in light and optimize their architecture in response to changes in these cues. Phytochrome A (phyA) was initially identified as a photoreceptor that senses far-red light signals. It was then identified as playing a central role in promoting hypocotyl growth, fiber development, and flowering time in a variety of plants including Arabidopsis, rice, soybean and cotton...

This study aimed to investigate the dimensions and types of the os trigonum and evaluate their relationship with various pathologic conditions on the posterior ankle using ankle MRI images. A total of 124 non-contrast-enhanced ankle and foot MR images of 123 consecutive patients were included in this retrospective study. The images were presented randomly, and they contained no patient information. The MR images were retrospectively and independently reviewed by two reviewers with a fellowship-trained musculoskeletal radiologist...

[This corrects the article DOI: 10.3389/fimmu.2023.1210041.].

Escherichia coli FocA and FocB formate channels export formate or import it for further disproportionation by the formate hydrogenlyase (FHL) complex to H2 and CO2 . Here, we show that under pH and osmotic stress FocA and FocB play important roles in regulating proton and potassium fluxes and couple this with H2 production in stationary-phase cells. Using whole-cell assays with glucose as electron donor, a focB mutant showed a 50 % decrease in VH2 , while N'N'-dicyclohexylcarbodiimide (DCCD) treatment of osmotically stressed cells underlined the role of FO F1 ATPase in H2 production...

Familial hemophagocytic lymphohistiocytosis (FHL) is an inherited, often fatal immune deficiency characterized by severe systemic hyperinflammation. Although allogeneic bone marrow transplantation can be curative, more effective therapies are urgently needed. FHL is caused by inactivating mutations in proteins that regulate cellular immunity. Here, we used an adeno-associated virus-based CRISPR-Cas9 system with an inhibitor of nonhomologous end joining to repair such mutations in potentially long-lived T cells ex vivo...

BACKGROUND: Chronic Achilles tendon defects are commonly associated with substantial impairment in gait and push-off strength, leading to decreased function1 . These injuries cause a unique surgical dilemma, with no consensus surgical reconstruction technique for >6-cm gaps3 . There are a multitude of surgical reconstruction techniques that rely on gap size as a determinant for preoperative planning1,2 . The present article describes a technique for chronic Achilles tendon defects of >6 cm...