BackgroundBiomarker screening is of major significance for the early diagnosis and prevention of Alzheimer’s disease (AD). Routine peripheral blood parameters are easy to collect and detect, making them ideal potential biomarkers. Thus, we aimed to evaluate the parameters from routine blood as potential biomarkers for AD.MethodsWe enrolled 56 AD patients, 57 mild cognitive impairment (MCI) patients, and 59 healthy elderly controls. Receiver operating characteristic (ROC) curves were used to assess the diagnostic values of routine blood biomarkers in patients with cognitive impairment.ResultsThere were significant differences in eight parameters between the groups. Logistic regression revealed that the neutrophil% (odds ratio (OR) 1.34, 95% confidence interval [CI] 1.03–1.75, p = 0.031) and neutrophil-to-lymphocyte ratio (NLR; OR 6.27, 95% CI 3.98–9.82, p = 0.003) differentiated AD patients and controls (areas under the curve [AUCs], 0.728 and 0.721) and that the NLR (OR 1.93, 95% CI 1.07–3.47, p = 0.028) and mean platelet volume (OR 1.67, 95% CI 1.04–2.70, p = 0.036) differentiated MCI patients and controls (AUCs, 0.60 and 0.638). There were no effective diagnostic biomarkers to distinguish AD from MCI.ConclusionSome routine blood biomarkers may correlate with cognitive impairment. Analysis of these biomarkers, such as the NLR, may be useful for the identification of patients with cognitive impairment.

Allostery is comprehensively studied for natural macromolecules, such as proteins and nucleic acids. Here, we present controllable allostery of synthetic DNA nanostructure–enzyme systems. Rational designs of the synthetic allosteric systems are based on an in-depth understanding of allosteric sites with several types of strand placements, whose varying stacking strengths determine the local conformation and ultimately lead to a gradient level of allosteric transition. When enzymes in a molecular cloning toolbox such as DNA polymerase, exonuclease and ligase are applied to treat the allosteric sites, the resulting local conformational changes propagate through the entire structure for a global allosteric transition.

Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder of connective tissue characterized by crumpled ears, arachnodactyly, camptodactyly, large joint contracture, and kyphoscoliosis. The nature course of CCA has not been well-described. We aim to decipher the genetic and phenotypic spectrum of CCA. The cohort was enrolled in Beijing Jishuitan Hospital and Peking Union Medical College Hospital, Beijing, China, based on Deciphering disorders Involving Scoliosis and COmorbidities (DISCO) study (http://www.discostudy.org/). Exome sequencing was performed on patients’ blood DNA. A recent published CCA scoring system was validated in our cohort. Seven novel variants and three previously reported FBN2 variants were identified through exome sequencing. Two variants outside of the neonatal region of FBN2 gene were found. The phenotypes were comparable between patients in our cohort and previous literature, with arachnodactyly, camptodactyly and large joints contractures found in almost all patients. All patients eligible for analysis were successfully classified into likely CCA based on the CCA scoring system. Furthermore, we found a double disease-causing heterozygous variant of FBN2 and ANKRD11 in a patient with blended phenotypes consisting of CCA and KBG syndrome. The identification of seven novel variants broadens the mutational and phenotypic spectrum of CCA and may provide implications for genetic counseling and clinical management.