Objective To determine the perioperative risks of partial hepatectomy by determining the preoperative liver functional reserve in patients with hepatocellular carcinoma (HCC),and to compare the model for end-stage liver disease (MELD) score with the Child-Pugh classification in predicting prognosis.Methods We reviewed the clinical data of 202 patients with HCC who underwent partial hepatectomy.The MELD score and the Child-Pugh classification were determined preoperatively.Results The incidence of postoperative liver dysfunction happened in 44.0％ of Child A patients,50％ in Child B patients,41.6％in patients with a MELD score below 14,and 91.7％ in patients with a MELD score of ＞ 14.The difference between the rates of postoperative liver dysfunction in patients with a preoperative MELD score above 14 and below 14 was significant (P ＜ 0.05),while that between patients with Child-Pugh A and B was insignificant (P ＞ 0.05).The incidences of postoperative liver dysfunction in patient with a MELD ＜ 8,8 ≤ MELD ≤ 14,MELD ＞ 14 were 38.2％,57.6％ and 91.7％,respectively,indicating that there was a positive co-relationship between the MELD score and the incidences of liver dysfunction.The Spearman rank correlation test showed the MELD score was significant correlated with the Child-Pugh score (r =0.404 ; P ＜ 0.05).The areas under the ROC curves of the MELD score and the Child-Pugh score were 0.703 and 0.587 (P ＜ 0.05).Conclusions The MELD score predicted postoperative liver dysfunction more accurately than the Child-Pugh classification.HCC patients undergoing partial hepatectomy with a preoperative MELD score ＞ 14 had a high perioperative risk.To ensure the safety of partial hepatectomy,HCC patients with a preoperative MELD score ＞ 14 requires active preoperative preparation,bringing the score near to or less than 14.

OBJECTIVE: To explore the genetic basis for a child featuring global developmental delay. METHODS: DNA was extracted from peripheral blood sample taken from the patient and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members. RESULTS: A heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene was detected in the proband, which was a verified to be de novo in origin. CONCLUSION The heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene probably underlay the disease in this child.
Arthrogryposis ; Child ; Family ; GTP-Binding Protein beta Subunits ; Heterozygote ; Humans ; Intellectual Disability/genetics* ; Whole Exome Sequencing

Sustained low-intensity muscle fatigue (SULMF) refers to the phenomenon that skeletal muscle continues to contract at less than 10% of maximum voluntary contraction during work activities, resulting in decreased muscle contractile function, which is one of the main causes of occupational neck, shoulder, waist and back discomfort and pain symptoms. Although surface electromyography is a key physiological technique for assessing the efficiency of neuromuscular activity, its effectiveness in objectively detecting SULMF remains controversial. Therefore, this paper describes the neurophysiological mechanism and related hypotheses of SULMF, and reviews the research progress of electromyography detection indicators and detection methods of SULMF, which is of great significance for the early prevention and accurate detection of work-related musculoskeletal disorders.

Sustained low-intensity muscle fatigue (SULMF) refers to the phenomenon that skeletal muscle continues to contract at less than 10% of maximum voluntary contraction during work activities, resulting in decreased muscle contractile function, which is one of the main causes of occupational neck, shoulder, waist and back discomfort and pain symptoms. Although surface electromyography is a key physiological technique for assessing the efficiency of neuromuscular activity, its effectiveness in objectively detecting SULMF remains controversial. Therefore, this paper describes the neurophysiological mechanism and related hypotheses of SULMF, and reviews the research progress of electromyography detection indicators and detection methods of SULMF, which is of great significance for the early prevention and accurate detection of work-related musculoskeletal disorders.

OBJECTIVE: To explore the genetic basis for a child with clinically suspected nephronophthisis (NPHP). METHODS: Peripheral blood samples of the patient and her parents were collected subjected to high-throughput sequencing. Sanger sequencing was used to verify the gene variants. RESULTS: The patient, a 7-year-old girl with congenital blindness, was admitted to a local hospital due to repeated vomiting for 7-8 days and then transferred to author's hospital due to renal failure. Her urine occult bloods (3+) and urine protein (1+) were abnormal. Her blood urea nitrogen and creatinine showed a significant progressive increase. Renal ultrasound showed a mild enlargement in bilateral renal, increased echogenicity, loss of corticomedullary differentiation, and the presence of cysts in both kidneys. No familial genetic history was found in the family of patient and the child was clinically diagnosed with nephronophthisis. The proband was found to harbor compound heterozygous variants of the CEP290 gene, namely c.2587-2A>T and c.2251C>T, which were inherited from her mother and father, respectively. Based on the ACMG guidelines, both variants were predicted to be pathogenic. CONCLUSION The patient was diagnosed with NPHP type 6 due to variants of the CEP290 gene. Above finding has provided new evidence for the genotype-phenotype correlation of this disease.

Objective To explore the genetic basis for a neonate featuring global developmental delay.Methods Clinical and laboratory tests were carried out for the patient.Peripheral venous blood samples were collected from the neonate and his parents for the extraction of DNA.Potential variant was detected by using targeted capture and next generation sequencing for a panel of genes associated with nervous system diseases.Suspected variant was validated by Sanger sequencing.Results The nine-month-old boy manifested global developmental delay and was unstable to sit alone and distinguish strangers from acquaintance.Genetic testing revealed two novel variants of the SLC19A3 gene in him,namely c.448G＞ A and c.169C＞T.The amino acids encoded by the two codons are highly conservative,and both variants were predicted to be pathogenic by bioinformatic analysis.Conclusion The compound heterozygous c.448G＞A and c.169C＞T variants probably underlay the onset of disease in the patient.Above finding also enriched the variant spectrum of SLC19A3 gene underlying Biotin-thiamine responsive basal ganglia disease.

OBJECTIVE: To explore the genetic basis for a Chinese boy featuring developmental delay and epilepsy. METHODS: Clinical data of the patient was collected. Genomic DNA of the patient and his parents was extracted and subjected to high-throughput sequencing. Pathogenicity of the variant was predicted and validated. RESULTS: Sequencing results showed that the patient has carried a de novo c.1470delA (p.V491Ffs*6) variant of the UBE3A gene, which was predicted to be pathogenic. CONCLUSION The frameshift variant c.1470delA (p.V491Ffs*6) probably underlay the disorders in this child.

OBJECTIVE: To explore the clinical and genetic characteristics of two children with developmental delay. METHODS: Two children who had presented at the Children's Hospital Affiliated to Shandong University on August 18, 2021 were enrolled as the study subjects. Clinical and laboratory examination, chromosomal karyotyping and high-throughput sequencing were carried out for both children. RESULTS: Both children had a 46,XX karyotype. High-throughput sequencing showed that they have respectively carried a c.489delG (p.Q165Rfs*14) and a c.1157_1158delAT (p.Y386Cfs*22) frameshifting variant of the CTCF gene, both had a de novo origin and were unreported previously. CONCLUSION The CTCF gene variants probably underlay the development delay in the two children. Above discovery has enriched the mutational spectrum of the CTCF gene and has important implications for revealing the genotype-phenotype correlation for similar patients.
Child ; Humans ; Developmental Disabilities/genetics* ; High-Throughput Nucleotide Sequencing ; Intellectual Disability/genetics* ; Karyotyping ; Mutation

OBJECTIVE: To explore the genetic basis for a child featuring short stature. METHODS: G-banded karyotyping, chromosomal microarray analysis (CMA) and high-throughput sequencing were carried out on peripheral blood sample from the child. RESULTS: The karyotype of the child was ascertained as 45,XY,-4[3]/46,XY,r(4)(p16q35)[84]/47,XY,-4,r(4)(p16q25)*2[7]/48,XY,-4,r(4)(p16q35)*3[1]/46,XY,dic r(4;4)(p16q35;p16q35)[2]/46,XY,add(4)(p16)[3]. A 647 kb deletion at 4p16.3 was identified by CMA, which encompassed 6 OMIM genes including ZNF141, PIGG, PDE6B, ATP5I, PCGF3 and MYL5. High-throughput sequencing has identified no pathogenic/likely pathogenic variants consistent with the clinical symptoms. CONCLUSION A rare ring chromosome 4 syndrome was identified by combined chromosomal karyotyping, CMA and high-throughput sequencing. Conventional cytogenetic analysis and genetic testing in combine have enabled the diagnosis in this case.

OBJECTIVE: To explore the genetic etiology of a child with lymphangiectasia and lymphedema. METHODS: DNA sample of the patient was extracted and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing. RESULTS: The patient was found to carry compound heterozygote variants (c.521G>A and c.472C>T) of the CCBE1 gene, which were respectively inherited from his parents. CONCLUSION The compound heterozygote variants of the CCBE1 gene probably underlie the disease in this child.