One-stop combined CT angiography of coronary and craniocervical arteries: recommended as the first examination for patients suspected of coronary or craniocervical artery disease.

Objectives: To investigate the potential diagnostic value of one-stop combined CT angiography (CTA) as the first examination for patients suspected of coronary artery disease (CAD) or craniocervical artery disease (CCAD), and compare its clinical performance with two consecutive CTA scans.

Methods: Patients with suspected but unconfirmed CAD or CCAD were prospectively enrolled and grouped randomly to undergo coronary and craniocervical CTA using the combined protocol (group 1) or the consecutive protocol (group 2). Diagnostic findings were evaluated for both the targeted and non-targeted regions.

Evaluation of the efficacy of transcatheter arterial embolization combined with apatinib on rabbit VX2 liver tumors by intravoxel incoherent motion diffusion-weighted MR imaging.

Background And Purpose: It is crucial to evaluate the efficacy, recurrence, and metastasis of liver tumors after clinical treatment. This study aimed to investigate the value of Introvoxel Incoherent Motion (IVIM) imaging in the evaluation of rabbit VX2 liver tumors treated with Transcatheter Arterial Embolization (TAE) combined with apatinib.

Methods: Twenty rabbit VX2 liver tumor models were established and randomly divided into either the experimental group (n=15) or the control group (n=5).

A BRCA1 Splice Site Variant Responsible for Familial Ovarian Cancer in a Han-Chinese Family.

Objective: Ovarian cancer (OC) is one of the most common and most lethal gynecological malignancies. OC has an age-dependent incidence and occurs more commonly in females older than 50 years old. Most OC patients are diagnosed at an advanced stage and have a poor prognosis.

Novel Compound Heterozygous Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease.

Genetic factors are thought to play an important role in the pathogenesis of Parkinson's disease (PD), particularly early-onset PD. The gene is the primary disease-causing gene for early-onset PD. The details of its functions remain unclear.

[Evaluation of total liver perfusion imaging of CT for efficacy of transcatheter arterial chemoembolization combined with apatinib on rabbit VX2 liver tumors].

To investigate the value of the total liver CT perfusion imaging in the evaluation of rabbit VX2 liver tumors treated with TACE and apatinib.
 Methods: Thirty-six rabbit VX2 liver cancer models were established and randomly divided into 4 groups. Group A: simple TACE group; Group B: simple oral administration of apatinib mesylate; Group C: TACE + oral apatinib mesylate; Group D: control group, administration of saline.

Novel and Recurring NOTCH3 Mutations in Two Chinese Patients with CADASIL.

Background: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal-dominant, inherited, systemic, vascular disorder primarily involving the small arteries. It is characterized by migraine, recurrent ischemic strokes, cognitive decline, and dementia. Mutations in the Notch receptor 3 gene (NOTCH3) and the HtrA serine peptidase 1 gene (HTRA1) are 2 genetic causes for CADASIL.

Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies.

Protein O-mannosyltransferase 1 (POMT1) is a critical enzyme participating in the first step of protein O-mannosylation. Mutations in the coding gene, POMT1, have been described to be related to a series of autosomal recessive disorders associated with defective alpha-dystroglycan glycosylation, later termed muscular dystrophy-dystroglycanopathies (MDDGs). MDDGs are characterized by a broad phenotypic spectrum of congenital muscular dystrophy or later-onset limb-girdle muscular dystrophy, accompanied by variable degrees of intellectual disability, brain defects, and ocular abnormalities.

Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.

GNE myopathy is a rare, recessively inherited, early adult-onset myopathy, characterized by distal and proximal muscle degeneration which often spares the quadriceps. It is caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE). This study aimed to identify the disease-causing mutation in a three-generation Han-Chinese family with members who have been diagnosed with myopathy.

An Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder.

Background: Auditory Neuropathy Spectrum Disorder (ANSD) is manifested as impairment of auditory nerve activity but preservation of the outer hair cell function.

Objective: This study was to detect the disease-causing gene and variant(s) in a Chinese ANSD family.

Methods: A four-generation consanguineous Chinese ANSD family and 200 unrelated healthy controls were enrolled.

Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma.

Background/aims: Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant genodermatosis. It is characterized by diffuse yellow keratoses on the palmoplantar epidermis, with an erythematous border. The keratin 9 gene (KRT9) and less frequently the keratin 1 gene (KRT1) are responsible for EPPK.

A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder.

Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive visual loss and night blindness due to retinitis pigmentosa (RP), with or without vestibular dysfunction. The purpose of this study was to detect the causative gene in a consanguineous Chinese family with USH. A c.

Genetic analysis of the RIC3 gene in Han Chinese patients with Parkinson's disease.

Parkinson's disease (PD) is the second-most common etiologically complex neurodegenerative disease. Genetic abnormalities are thought to play an important role in the development of PD. Recently, mutations in the resistance to inhibitors of cholinesterase 3 gene (RIC3) have been reported to cause autosomal-dominant PD in Indian population.

Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.

Muscular dystrophy-dystroglycanopathy (MDDG) is a genetically and clinically heterogeneous group of muscular disorders, characterized by congenital muscular dystrophy or later-onset limb-girdle muscular dystrophy accompanied by brain and ocular abnormalities, resulting from aberrant alpha-dystroglycan glycosylation. Exome sequencing and Sanger sequencing were performed on a six-generation consanguineous Han Chinese family, members of which had autosomal recessive MDDG. Compound heterozygous mutations, c.

A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis.

Focal segmental glomerulosclerosis (FSGS) is the most common glomerular histological lesion associated with high-grade proteinuria and end-stage renal disease. Histologically, FSGS is characterized by focal segmental sclerosis with foot process effacement. The aim of this study was to identify the disease-causing mutation in a four-generation Chinese family with FSGS.

A Wash-Free Homogeneous Colorimetric Immunoassay Method.

Rapid and convenient biosensing platforms could be beneficial to timely diagnosis and treatment of diseases in virtually any care settings. Sandwich immunoassays, the most commonly used methods for protein detection, often rely on expensive tags such as enzyme and tedious wash and incubation procedures operated by skilled labor. In this report, we revolutionized traditional sandwich immunoassays by providing a wash-free homogeneous colorimetric immunoassay method without requirement of any separation steps.

Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.

Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder, generally manifested with prelingual hearing loss and absence of other clinical manifestations. The aim of this study is to identify the pathogenic gene in a four-generation consanguineous Chinese family with ARNSHL. A novel homozygous variant, c.

A water-soluble ESIPT fluorescent probe with high quantum yield and red emission for ratiometric detection of inorganic and organic palladium.

A novel fluorescent probe with a high quantum yield (0.41), large Stokes shifts (255 nm), and red emission (635 nm) was designed to detect all typical oxidation states of palladium species (0, +2, +4) by palladium-mediated terminal propargyl ethers cleavage reaction in water solution without any organic media. The probe showed a high selectivity and excellent sensitivity for palladium species, with a detection as low as 57 nM (6.

Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing.

Familial hypophosphatemic rickets (HR), the most common inherited form of rickets, is a group of inherited renal phosphate wasting disorders characterized by growth retardation, rickets with bone deformities, osteomalacia, poor dental development, and hypophosphatemia. The purpose of this study was to identify the genetic defect responsible for familial HR in a four-generation Chinese Han pedigree by exome sequencing and Sanger sequencing. Clinical features include skeletal deformities, teeth abnormalities, hearing impairments and variable serum phosphate level in patients of this family.

[Correlation of multi-slice CT findings to clinical staging and prognosis of mesenteric blood vessel infarction].

Objective: To explore the correlation of multi-slice CT findings to the clinical staging and prognosis of intestinal obstruction due to mesenteric blood vessel infarction.

Methods: Fifty-four patients with intestinal obstruction resulting from infarction of the mesenteric vein or artery underwent multi-slice CT scanning, and the CT findings were analyzed for their relation with the intestinal ischemia and prognosis.

Results: Sixteen patients were confirmed to have mesenteric arterial thrombosis (29%) and 40 had mesenteric venous thromboses (71%) by multi-slice CT scanning.