The β-Chain Mutation p.Arg17Stop Impairs Fibrinogen Synthesis and Secretion: A Nonsense Mutation Associated With Hypofibrinogenemia.

Background: Congenital hypofibrinogenemia, a quantitative fibrinogen disorder, is characterized by abnormally low levels of both functional and antigen fibrinogen. We identified a heterozygous nonsense mutation, p.Arg17Stop, in the fibrinogen Bβ chain of a three-month-old female infant.

Detection of hemophilia A genetic variants using third-generation long-read sequencing.

Background: Hemophilia A (HA) is an X-linked recessive genetic disorder caused by pathogenic variations of the factor VIII -encoding gene, F8 gene. Due to the large size and diverse types of variations in the F8 gene, causative mutations in F8 cannot be simultaneously detected in one step by traditional molecular analysis, and genetic molecular diagnosis and prenatal screening of HA still face significant difficulties and challenges in clinical practice. Therefore, we aimed to develop and validate an efficient, accurate, and time-saving method for the genetic detection of HA.

Patient with congenital factor VII deficiency undergoing brain tumor neurosurgery successfully treated with recombinant factor VIIa and fresh frozen plasma: A case report and literature review.

Rationale: Congenital factor VII deficiency is the most common among rare bleeding disorders, characterized by spontaneous or traumatic bleeding. The clinical manifestation is heterogeneous, ranging from asymptomatic phenotype to life-threatening hemorrhages. Intracranial hemorrhage is a common complication of brain tumor neurosurgery, which significantly challenges the perioperative management of patients with hemostatic defects.

Third-generation sequencing for genetic disease.

Third-generation sequencing (TGS) has led to a brave new revolution in detecting genetic diseases over the last few years. TGS has been rapidly developed for genetic disease applications owing to its significant advantages such as long read length, rapid detection, and precise detection of complex and rare structural variants. This approach greatly improves the efficiency of disease diagnosis and complements the shortcomings of short-read sequencing.

Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the gene: a case report and literature review.

Enlarged vestibular aqueduct is an autosomal genetic disease mainly caused by mutations in the gene and includes non-syndromic and syndromic types. This study aimed to identify genetic defects in a Chinese patient with non-syndromic enlarged vestibular aqueduct (NSEVA) and to investigate the impact of variants on the severity of non-syndromic enlarged vestibular aqueduct. A male patient with NSEVA, aged approximately 6 years, was recruited for this study.

An MMIC LNA for Millimeter-Wave Radar and 5G Applications with GaN-on-SiC Technology.

This paper presents a monolithic microwave integrated circuit (MMIC) low noise amplifier (LNA) that is compatible with n257 (26.5-29.5 GHz) and n258 (24.

The observation of high hypotonicity manipulating cell division.

We report a morphological manipulation of cell division which was achieved by changing the environment from isotonic to highly hypotonic. Cells at telophase were observed to undergo a morphological reversal to anaphase, with the contractile ring being reopened and the cell shape reversing from dumb-bell back to spherical. Once restored to isosmotic environment, the reversed cells would either continue to divide or instead to form binuclear cells that further proliferated in runaway fashions.

Material patterning on substrates by manipulation of fluidic behavior.

Patterned materials on substrates are of great importance for a wide variety of applications. In solution-based approaches to material patterning, fluidic flow is inevitable. Here we demonstrate not only the importance of fluidic behavior but also the methodology of engineering the flow pattern to guide the material crystallization and assembly.

Algicoccus marinus gen. nov. sp. nov., a marine bacterium isolated from the surface of brown seaweed Laminaria japonica.

A Gram-staining-negative, strictly aerobic, non-motile, ovoid- to rod-shaped bacterium, designated as HZ20, was isolated from the surface of a brown seaweed (Laminaria japonica) sample collected from the East China Sea. Colonies are 1.0-2.

DWT-based segmentation method for coronary arteries.

This work presents a new method for segmenting coronary arteries automatically in computed tomography angiography (CTA) data sets. The method automatically isolates heart and coronary arteries from surrounding structures and search for the probable location of coronary arteries by 3D region growing. Based on the dilation of the probable location, discrete wavelet transformation (DWT) and λ - mean operation complete accurate detection of coronary arties.

Fingerprint analysis of Psoralea corylifolia L. by HPLC and LC-MS.

High-performance liquid chromatography (HPLC) was developed for fingerprint analysis of Psoralea corylifolia. Liquid chromatography-electrospray ionization-tandem mass spectrometry (LC-ESI-MSn) technique was first employed to identify the components of the fingerprint. The samples were separated with an Alltima C18 column (250 mm x 4.