Floppy

Neonatal screening for SMA has allowed the identification of infants who may present with early clinical signs. Our aim was to establish whether the presence and the severity of early clinical signs have an effect on the development of motor milestones. Infants identified through newborn screening were prospectively assessed using a structured neonatal neurological examination and an additional module developed for the assessment of floppy infants. As part of the follow-up, all infants were assessed using the HINE-2 to establish developmental milestones...

Existing mechanical metamaterials are typically designed to either withstand loads as a stiff structure, shape morph as a floppy mechanism, or trap energy as a multistable matter, distinct behaviours that correspond to three primary classes of macroscopic solids. Their stiffness and stability are sealed permanently into their architecture, mostly remaining immutable post-fabrication due to the invariance of zero modes. Here, we introduce an all-in-one reprogrammable class of Kagome metamaterials that enable the in-situ reprogramming of zero modes to access the apparently conflicting properties of all classes...

PURPOSES: A floppy Nissen fundoplication with valve calibration (FNF-VC) performed by laparotomy has been described, to reduce postoperative dysphagia and gas bloating after 360°-fundoplication. As laparoscopy is the gold standard for fundoplication, this study reports the first results of a modified FNF-VC adapted for laparoscopy (LFNF). METHODS: Seventy-two consecutive patients, who underwent LFNF for refractory GERD between 2012 and 2021, were included. Postoperative outcomes and quality of life (QoL) by GERSS, GERD-HRQL, and GIQLI scores before and after surgery were assessed...

Structure and functions of S100 proteins are regulated by two distinct calcium binding EF hand motifs. In this work, we used solution-state NMR spectroscopy to investigate the cooperativity between the two calcium binding sites and map the allosteric changes at the target binding site. To parse the contribution of the individual calcium binding events, variants of S100A12 were designed to selectively bind calcium to either the EF-I (N63A) or EF-II (E31A) loop, respectively. Detailed analysis of the backbone chemical shifts for wildtype protein and its mutants indicates that calcium binding to the canonical EF-II loop is the principal trigger for the conformational switch between 'closed' apo to the 'open' Ca2+ -bound conformation of the protein...

BACKGROUND: Primary percutaneous intervention (PPCI) of the saphenous vein graft (SVG) is associated with a high risk of distal embolization and no reflow, since SVG lesions are often very friable and have a large thrombotic burden. We report a case of successful PPCI of the SVG using guide catheter thrombectomy with novel double wire technique. CASE SUMMARY: A 60-year-old male with a past history of coronary artery bypass grafting presented with acute thrombotic occlusion of the SVG to the obtuse marginal graft...

Conformational flexibility and chirality both play a key role in molecular recognition. It is therefore very useful to develop spectroscopic methods that simultaneously probe both properties. It has been theoretically predicted that photoelectron circular dichroism (PECD) should be very sensitive to conformational isomerism. However, experimental proof has been less forthcoming and only exists for a very few favorable cases. Here, we present a new PECD scheme based on resonance-enhanced two-photon ionization (RE2PI) using UV/Vis nanosecond laser excitations...

Floppy microscale spring networks are widely studied in theory and simulations, but no well-controlled experimental system currently exists. Here, we show that square lattices consisting of colloid-supported lipid bilayers functionalized with DNA linkers act as microscale floppy spring networks. We extract their normal modes by inverting the particle displacement correlation matrix, showing the emergence of a spectrum of soft modes with low effective stiffness in addition to stiff modes that derive from linker interactions...

OBJECTIVE: To evaluate the effect of full-thickness wedge resection (FTWR) on ocular surface and in vivo confocal microscopy (IVCM) findings in patients with floppy eyelid syndrome (FES). METHODS: The study included two groups: a surgical treatment (ST) group (26 eyes) consisting of patients who underwent FTWR surgery, and a conservative treatment (CT) group (30 eyes). Pre-treatment and post-treatment ocular surface disease index (OSDI), tear break-up time (TBUT), corneal fluorescein staining (CFS), IVCM findings along with the body mass index (BMI), FES grade, the presence and the treatment of obstructive sleep apnea syndrome (OSAS) were recorded and compared between the groups...

Adeno-associated viruses (AAV) are well-suited to serve as gene transfer vectors. Onasemnogene abeparvovec uses AAV9 as virus vector. Previous exposure to wild-type AAVs or placental transfer of maternal AAV antibodies, however, can trigger an immune response to the vector virus which may limit the therapeutic effectiveness of gene transfer and impact safety. We present the case of a female patient with spinal muscular atrophy (SMA) and three survival motor neuron 2 (SMN2) gene copies. The infant had elevated titers of AAV9 antibodies at diagnosis at 9 days of age...

The receptor-type protein tyrosine phosphatases (RPTPs) are involved in a wide variety of physiological functions which are mediated via their diverse extracellular regions. They play key roles in cell-cell contacts, bind various ligands and are regulated by dimerization and other processes. Depending on the subgroup, they have been described as everything from 'rigid rods' to 'floppy tentacles'. Here, we review current experimental structural knowledge on the extracellular region of RPTPs and draw on AlphaFold structural predictions to provide further insights into structure and function of these cellular signalling molecules, which are often mutated in disease and are recognised as drug targets...

Atrial septal defects (ASDs) present a significant healthcare challenge, demanding accurate and timely diagnosis and precise management to ensure optimal patient outcomes. Artificial intelligence (AI) applications in healthcare are rapidly evolving, offering promise for enhanced medical decision-making and patient care. In the context of cardiology, the integration of AI promises to provide more efficient and accurate diagnosis and personalized treatment strategies for ASD patients. In interventional cardiology, sometimes the lack of precise measurement of the cardiac rims evaluated by transthoracic echocardiography combined with the floppy aspect of the rims can mislead and result in complications...

Two patients with floppy eyelid syndrome presented with severe eye pain and foreign body sensation after recent levator aponeurosis advancement. The examination in both patients was notable for entropion of the upper eyelid, and upper lid eversion revealed deformity of the tarsus in both patients. Surgical revision with full-thickness horizontal tarsotomy and limited excision of the abnormal tarsus corrected the deformity. The authors propose a mechanism for this phenomenon and a modification of surgical technique that may prevent this complication...

Congenital eyelid imbrication syndrome is a rare eyelid finding where a long upper lid overlaps the lower lid when the eyes are closed. To date, congenital eyelid imbrication syndrome has been described in the literature less than 10 times. We present a case of congenital eyelid imbrication syndrome in a patient with trisomy 21 and tetralogy of Fallot on a prostaglandin E infusion to maintain a patent ductus arteriosus prior to definitive heart surgery. While on the infusion, the patient developed peripheral edema and flushing due to vasodilation...

Mitral annular disjunction (MAD) refers to atrial displacement of the hinge point of the mitral valve annulus from the ventricular myocardium. MAD leads to paradoxical expansion of the annulus in systole and may often be associated with mitral valve prolapse (MVP), leaflet degeneration, myocardial and papillary muscle fibrosis, and, potentially, malignant cardiac arrhythmias. Patients with MAD and MVP may present similarly, and MAD is potentially the missing link in explaining why some patients with MVP experience adverse outcomes...

BACKGROUND: Symptomatic and large hiatal hernia (HH) is a common disorder requiring surgical management. However, there is a lack of systematic, evidence-based recommendations summarizing recent reviews on surgical treatment of symptomatic HH. Therefore, this systematic review aimed to create evidence mapping on the key technical issues of HH repair based on the highest available evidence. METHODS: A systematic review identified studies on eight key issues of large symptomatic HH repair...

At zero temperature, spring networks with connectivity below Maxwell's isostatic threshold undergo a mechanical phase transition from a floppy state at small strains to a rigid state for applied shear strain above a critical strain threshold. Disordered networks in the floppy mechanical regime can be stabilized by entropic effects at finite temperature. We develop a scaling theory for this mechanical phase transition at finite temperature, yielding relationships between various scaling exponents. Using Monte Carlo simulations, we verify these scaling relations and identify anomalous entropic elasticity with sublinear T dependence in the linear elastic regime...

PURPOSE: To determine the outcomes and predisposing factors of Descemet's membrane endothelial keratoplasty ( DMEK ) complicated by intraoperative fibrinous reaction. METHODS: Retrospective cohort study of 346 DMEKs. Medical charts were reviewed for recipient demographics, surgical indications, donor characteristics, and potential predisposing ocular and systemic factors. For DMEKs complicated by fibrin, surgeons' notes on events leading to fibrin formation and on its intraoperative management, occurrence of graft detachment, primary failure, re-bubbling or regrafting, time to graft clearing, and endothelial cell density were additionally collected...

The bacterial Makes caterpillars floppy 1 (Mcf1) toxin promotes apoptosis in insects, leading to loss of body turgor and death. The molecular mechanism underlying Mcf1 intoxication is poorly understood. Here, we present the cryo-EM structure of Mcf1 from Photorhabdus luminescens, revealing a seahorse-like shape with a head and tail. While the three head domains contain two effectors, as well as an activator-binding domain (ABD) and an autoprotease, the tail consists of two putative translocation and three putative receptor-binding domains...

BACKGROUND: Patch repair of congenital diaphragmatic hernia (CDH) using Gore-Tex® is associated with infection, adhesions, hernia recurrence, long-term musculoskeletal sequels and poor tissue regeneration. To overcome these limitations, the performance of two novel biodegradable membranes was tested to repair CDH in a growing pig model. METHODS: Twelve male pigs were randomly assigned to 3 different groups of 4 animals each, determined by the type of patch used during thoracoscopic diaphragmatic hernia repair (Gore-Tex® , polycaprolactone electrospun membrane-PCLem, and decellularized human chorion membrane-dHCM)...

Functional structures from across the engineered and biological world combine rigid elements such as bones and columns with flexible ones such as cables, fibers, and membranes. These structures are known loosely as tensegrities, since these cable-like elements have the highly nonlinear property of supporting only extensile tension. Marginally rigid systems are of particular interest because the number of structural constraints permits both flexible deformation and the support of external loads. We present a model system in which tensegrity elements are added at random to a regular backbone...