Clinical characteristics and prognosis of early diagnosed Wilson's disease: A large cohort study.

Background And Aims: Few studies have focused on the outcomes of Wilson's disease (WD) diagnosed before age of 5 years. This study aimed to summarize the clinical features of early diagnosed WD and analyse treatment outcomes and the risk factors associated with treatment failure.

Methods: A total of 139 children confirmed with WD before 5 years were enrolled in this study.

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.

Background: Methylmalonic aciduria (MMA) is a group of rare genetic metabolic disorders resulting from defects in methylmalonyl coenzyme A mutase (MCM) or intracellular cobalamin (cbl) metabolism. MMA patients show diverse clinical and genetic features across different subtypes and populations.

Methods: We retrospectively recruited 60 MMA patients from a single center and diagnosed them based on their clinical manifestations and biochemical assays.

Features of liver injury in 138 Chinese patients with NICCD.

Objectives: To find biochemical and molecular markers can assist in identifying serious liver damage of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) patients.

Methods: 138 patients under 13 days to 1.1 year old diagnosed of NICCD in our center from 2004 to 2020.

The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant.

Marbach-Rustad progeroid syndrome is an extremely rare disease caused by a heterozygous variant in the LEMD2 gene. To date, only two patients and one LEMD2 pathogenic variant have been reported in Marbach-Rustad progeroid syndrome. Here we describe the third case of Marbach-Rustad progeroid syndrome worldwide, which is also the first case in China.

The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant.

A. The family pedigree. B.

Assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children.

Background: Serum ceruloplasmin is one of the major diagnostic parameters for Wilson's disease (WD). Age and gender difference of serum ceruloplasmin remain controversy. This study aims to assess diagnostic value of serum ceruloplasmin level for WD in children up to age of 15 years.

Insight into integration of photocatalytic and microbial wastewater treatment technologies for recalcitrant organic pollutants: From sequential to simultaneous reactions.

The more and more stringent environmental standards for recalcitrant organic pollutants pushed forward the development of integration of photocatalytic and microbial wastewater treatment technologies. The past studies proposed mainly two typical integration ways: a) Independent sequence of photocatalysis and biodegradation (ISPB) conducting the sequential reactions; b) Intimate coupling of photocatalysis and biodegradation (ICPB) conducting the simultaneous reactions. Although ICPB has received more attraction recently due to its novelty, ISPB gives an edge in certain cases.

A two-stage degradation coupling photocatalysis to microalgae enhances the mineralization of enrofloxacin.

The coupling of photocatalytic and algal processes has been used for the removal of widespread antibiotics. The removal capacities of the individual and the combined system against enrofloxacin were tested and compared in this work. Due to the low tolerance of the algae to enrofloxacin, the target compound was barely degraded during the individual algal treatment.

The EGFR-P38 MAPK axis up-regulates PD-L1 through miR-675-5p and down-regulates HLA-ABC via hexokinase-2 in hepatocellular carcinoma cells.

Background: Immunotherapy has been shown to be a promising strategy against human cancers. A better understanding of the immune regulation in hepatocellular carcinoma (HCC) could help the development of immunotherapy against HCC. The epidermal growth factor receptor (EGFR) signaling is frequently activated in HCC and plays important roles in tumorigenesis.

Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China.

Purpose: Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in , or . Mutational analysis of these genes is a reliable approach to identify the disorder.

Methods: We collected and analyzed relevant data related to clinical diagnosis, biological investigation, and molecular determination in nine children carrying these gene mutations, who were from unrelated families in South China.

Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review.

Background: Hajdu-Cheney syndrome (HCS) is a rare inherited skeletal disorder caused by pathogenic mutations in exon 34 of NOTCH2. Its highly variable phenotypes make early diagnosis challenging. In this paper, we report a case of early-onset HCS with severe phenotypic manifestations but delayed diagnosis.

Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.

Objective: Hypophosphatasia (HPP) is an inherited disorder of defective skeletal mineralization caused by mutations in the ALPL gene that encodes the Tissue Non-specific Alkaline Phosphatase (TNSALP). It is subdivided into six forms depending on the age of onset: perinatal lethal, prenatal benign, infantile, childhood, adult, and odonto HPP. Among these, infantile HPP is characterized by early onset and high frequency of lethal outcome.

Clinical features and mutational analysis in 114 young children with Wilson disease from South China.

Wilson disease (WD) is a rare autosomal recessive disorder caused by mutations in the ATP7B gene. Clinical features and mutational analysis of Chinese children with WD at early age were rarely described. Herein, we retrospectively examined 114 children with WD at the mean of 5.

A novel homozygous splice-site variant of NCAPD2 gene identified in two siblings with primary microcephaly: The second case report.

Here we describe the second case of primary microcephaly caused by a novel homozygous splice-site variant at the NCAPD2 gene. The proband was born with microcephaly, and developed intellectual disability. Whole exome sequencing identified a canonical splice-site variant, c.

Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.

Biotinidase (BTD) deficiency is a rare autosomal recessive metabolic disease, which develops neurological and cutaneous symptoms because of the impaired biotin recycling. Pathogenic mutations on BTD gene cause BTD deficiency. Clinical features and mutation analysis of Chinese children with BTD deficiency were rarely described.

Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease.

Maple syrup urine disease (MSUD) is a rare autosomal recessive genetic disorder caused by defects in the catabolism of the branched-chain amino acids (BCAAs). Classic form of MSUD (CMSUD) is caused by mutations in BCKDHA, BCKDHB, DBT genes mostly. In this study, we analyzed the clinical and genetic characteristics of two patients with CMSUD.

[Clinical features of pyruvate dehydrogenase complex deficiency and gene testing in one case].

Objective: To analyze the clinical characteristics and genetype of one children who had been diagnosed with pyruvate dehydrogenase complex deficiency.

Method: Comprehensive analyses of this case were performed, including clinical symptoms, signs, biochemical examinations and therapeutic effects. The eleven exons and splicing areas of PDHA1 were amplified with genomic DNA from whole blood.