Jizhen Feng
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View article: Nomogram of Intracranial Artery Calcification with Integration of CT-based Radiomics to Identify Culprit Lesions
Nomogram of Intracranial Artery Calcification with Integration of CT-based Radiomics to Identify Culprit Lesions Open
Background : To develop a machine learning model of intracranial artery calcification (IAC) based on computed tomography (CT) images and assess its value for improved identifying culprit lesions responsible for acute/subacute ischemic cere…
View article: Imaging features of eosinophilic solid and cystic renal cell carcinoma
Imaging features of eosinophilic solid and cystic renal cell carcinoma Open
View article: Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China
Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China Open
Newborn congenital hypothyroidism (CH) screening has been widely used worldwide. The objective of this study was to evaluate the effectiveness of applying biochemical and gene panel sequencing as screening tests for CH and to analyze the m…
View article: Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening
Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening Open
Background and aims Newborn screening (NBS) for glucose-6-phosphate dehydrogenase (G6PD) deficiency by biochemical tests is being used worldwide, however, the outcomes arising from combined genetic and biochemical tests have not been evalu…
View article: Newborn Genomic Screening Detects Chromosomal Aneuploidies
Newborn Genomic Screening Detects Chromosomal Aneuploidies Open
The application of next-generation sequencing (NGS) technology is increasingly used in newborn screening (NBS) to detect monogenic disorders. However, its capability to identify chromosomal aneuploidies and its potential clinical value hav…
View article: Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China
Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China Open
Background Isolated methylmalonic acidemia, an autosomal recessive disorder of propionate metabolism, is usually caused by mutations in the methylmalonyl-CoA mutase gene (mut-type). Because no universal consensus was made on whether mut -t…
View article: Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry Open
The aim of this study was to observe the outcomes of newborn screening (NBS) in a certain population by using next-generation sequencing (NGS) as a first-tier screening test combined with tandem mass spectrometry (MS/MS). We performed a mu…
View article: Molecular Epidemiological Characteristics and Variant Spectrum of G6PD Deficiency in China: A Population-Based Multicenter Study of Newborn Screening
Molecular Epidemiological Characteristics and Variant Spectrum of G6PD Deficiency in China: A Population-Based Multicenter Study of Newborn Screening Open
View article: Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort
Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort Open
Background The aim of this study was to characterize the variable phenotypes and outcomes associated with the methylmalonic aciduria and homocystinuria type C protein gene ( MMACHC ) c.482G > A mutation in 195 Chinese cases with CblC disea…
View article: Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China
Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China Open
Background Isolated methylmalonic acidemia, an autosomal recessive disorder of propionate metabolism, is usually caused by mutations in the methylmalonyl-CoA mutase gene (mut-type). Because no universal consensus was made on whether mut-ty…
View article: Gastroblastoma in a 5-year-old child: a case report and literature review
Gastroblastoma in a 5-year-old child: a case report and literature review Open
Background Gastroblastoma is an extremely rare stomach tumor with a biphasic cell morphology of epithelioid and spindle cells. Due to the low incidence rate and the lack of specific clinical characteristics, it is easy to misdiagnose. Deta…
View article: Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening Open
Importance Newborn screening via biochemical tests is in use worldwide. The availability of genetic sequencing has allowed rapid screening for a substantial number of monogenic disorders. However, the outcomes of this strategy have not bee…
View article: Mucinous tubular and spindle cell carcinoma of the kidney: a report of seven cases
Mucinous tubular and spindle cell carcinoma of the kidney: a report of seven cases Open
Objective To further analyse the imaging features and tumour outcomes of mucinous tubular and spindle cell carcinoma (MTSCC) of the kidney. Materials and methods The current study retrospectively reviewed the clinical information of seven …
View article: Case report: Gastric adenosquamous carcinoma with EBV-positive component of squamous cell carcinoma mixed with gastric carcinoma with lymphoid stroma: A novel case report and literature review
Case report: Gastric adenosquamous carcinoma with EBV-positive component of squamous cell carcinoma mixed with gastric carcinoma with lymphoid stroma: A novel case report and literature review Open
Background: Gastric adenosquamous carcinoma with EBV-positive component of squamous cell carcinoma mixed with gastric carcinoma with lymphoid stroma are extremely unusual variants of gastric carcinoma. We herein reported such a case and su…
View article: Bone marrow-derived mesenchymal stem cells expressing BMP2 suppress glioma stem cell growth and stemness through Bcl-2/Bax signaling
Bone marrow-derived mesenchymal stem cells expressing BMP2 suppress glioma stem cell growth and stemness through Bcl-2/Bax signaling Open
Objectives: To find an effective molecule that controls glioma stem cell (GSC) proliferation and differentiation for the development of future therapeutic interventions against glioblastoma. Material and Methods: Bone marrow-derived mesenc…
View article: The follow-up of Chinese patients in mut-type methylmalonic acidemia identified through expanded newborn screening
The follow-up of Chinese patients in mut-type methylmalonic acidemia identified through expanded newborn screening Open
Background : Isolated methylmalonic acidemia (MMA), an autosomal recessive disorder of propionate metabolism, is usually caused by mutations in the methylmalonyl-CoA mutase gene (mut-type MMA). Because no universal consensus was made on wh…
View article: The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening
The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening Open
Objective: The cblC type of combined methylmalonic acidemia and homocystinuria, an inherited disorder with variable phenotypes, is included in newborn screening (NBS) programs at multiple newborn screening centers in China. The present stu…
View article: Different mutations in the <i>MMUT</i> gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study
Different mutations in the <i>MMUT</i> gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study Open
Background To summarize the relationship between different MMUT gene mutations and the response to vitamin B12 in MMA. Methods This was a retrospective study of patients diagnosed with mut‐type MMA. All patients with mut‐type MMA were test…
View article: Multiple Gastric Antrum Mucosal Schwann Cell Hamartoma on Incidental Screening Gastroscopy: A Case Report
Multiple Gastric Antrum Mucosal Schwann Cell Hamartoma on Incidental Screening Gastroscopy: A Case Report Open
Background ：Mucosal Schwann cell hamartoma (MSCH) is a newly recognized neural lesion of the gastrointestinal (GI) tract. MSCHs are mostly solitary and occur in the colon and rectum. We present a case with multiple MSCHs arising in gastric…
View article: A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients
A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients Open
View article: A rare mutation c.1663G&gt;A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients
A rare mutation c.1663G>A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients Open
Background: Methylmalonic acidemia is an inherited organic acid metabolic disease. it involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them…
View article: A rare mutation c.1663G&gt;A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients
A rare mutation c.1663G>A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients Open
Background : Methylmalonic acidemia is an inherited organic acid metabolic disease. it involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of the…
View article: A rare mutation c.1663G&gt;A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients
A rare mutation c.1663G>A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients Open
Background Methylmalonic acidemia is an inherited organic acid metabolic disease. it involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them,…
View article: Primary malignant melanoma of the esophagus
Primary malignant melanoma of the esophagus Open
View article: Shuyu Capsules Relieve Premenstrual Syndrome Depression by Reducing<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" id="M1"><mml:mtext>5-</mml:mtext><mml:msub><mml:mrow><mml:mtext>HT</mml:mtext></mml:mrow><mml:mrow><mml:mtext>3A</mml:mtext></mml:mrow></mml:msub><mml:mtext>R</mml:mtext></mml:math>and<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" id="M2"><mml:mtext>5-</mml:mtext><mml:msub><mml:mrow><mml:mtext>HT</mml:mtext></mml:mrow><mml:mrow><mml:mtext>3B</mml:mtext></mml:mrow></mml:msub><mml:mtext>R</mml:mtext></mml:math>Expression in the Rat Brain
Shuyu Capsules Relieve Premenstrual Syndrome Depression by ReducingandExpression in the Rat Brain Open
The effects of the Shuyu capsule onandexpression in a rat model of premenstrual syndrome (PMS) depression and onandexpression and hippocampal neuron 5-HT 3 channel current were investigated, to elucidate its mechanism of action against PMS…