Liver transplantation for mitochondrial DNA depletion syndrome caused by MPV17 deficiency: a case report and literature review.

Objective: To study the effectiveness of liver transplantation (LT) in treating mitochondrial DNA depletion syndrome (MDS) caused by the MPV17 gene variant. Case presentation: A boy aged 2.8 years presented with edema of the lower limbs and abdomen, which persisted for over 10 days and was of unknown origin; this was accompanied by abnormal liver function, intractable hypoglycemia, and hyperlactatemia. During the second week of onset, he developed acute-on-chronic liver failure and was diagnosed with MDS due to homozygous variant c.293C>T in the MPV17 gene. Subsequently, he underwent LT from a cadaveric donor. At follow-up after 15 months, his liver function was found to be normal, without any symptoms. Additionally, a literature review was performed that included MDS patients with the MPV17 variant who underwent LT. The results demonstrated that the survival rates for MDS patients who underwent LT were 69.5%, 38.6%, 38.6%, and 38.6% at 1-year, 5-year, 10-year, and 20-year intervals, respectively. Sub-group analyses revealed the survival rate of MDS patients with isolated liver disease (83.33%, 5/6) was higher than that of hepatocerebral MDS patients (44.44%, 8/18). Fifteen variants were identified in the MPV17 gene, and patients with the c.293C>T (p.P98l) variant exhibited the highest survival rate. Conclusion: Hepatocerebral MDS patients without neurological symptoms may benefit from LT.

Molecular and phenotype characterization of an elongated ß-globin variant produced by HBB:C.313delA.

INTRODUCTION: ß-thalassemia is a severe hereditary hemolytic anemia. Due to the diversity of mutations spectrum, ß-thalassemia manifests a highly heterogeneous clinical severity. We noted that a previous report characterized HBB:c.313delA, at the end of exon 2, as a ß-thalassemia trait rather than dominant ß-thalassemia, the classification given to similar mutations. We further explored the impact of this functional variant on globin structure through larger pedigree analysis and in vitro studies. METHODS: Hematological analysis and molecular genotyping were conducted on the proband and his family members. We evaluated functional effects of the variant on ß-globin gene in the proband's nucleated erythrocytes and transfected HEK-293T cells. Three-dimensional construction of protein structure was carried out in silico to demonstrate amino acid changes. RESULTS: The thalassemia major proband was identified as a compound heterozygote of HBB:c.313delA and HBB:c.126_129delCTTT. Three family members with heterozygotes of HBB:c.313delA displayed microcytic hypochromic anemia. Molecular characterization demonstrated that the frameshift mutation could give rise to retro-positioning of the termination codon, resulting in an elongated ß-globin chain with an extension of 10 amino acids. Clinical phenotype and functional experiments indicated that HBB:c.313delA led to ß0 -thalassemia phenotype. CONCLUSION: We concluded that the phenotype of HBB:c.313delA was mainly related to the stability of mutant mRNA, the degradation of mutant proteins, and production of inclusion bodies according to a systematic description of clinical phenotype and a series of molecular experiments.

Effect of comprehensive high-quality nursing care on postoperative complications, degree of pain, and nursing satisfaction in gallstone patients during perioperative period.

OBJECTIVE: To investigate the influence of comprehensive high-quality nursing care on postoperative complications, degree of pain, and nursing satisfaction in gallstone patients during the perioperative period. METHODS: A total of 77 gallstone patients admitted to our hospital were selected as the study subjects, and divided into a control group (n=38) and an experimental group (n=39) in accordance with the random number table method. During the perioperative period, the control group received conventional nursing, while the experimental group received comprehensive high-quality nursing and conventional nursing. The visual analogue scale (VAS) was adopted to score degree of pain in both groups at 6 h, 24 h, and 48 h after surgery. Nursing satisfaction questionnaires were used to evaluate the satisfaction of the two groups of patients. The changes of postoperative complications, pain degrees, and nursing satisfaction were observed in the two groups after nursing interventions during the perioperative period. RESULTS: After comprehensive high-quality nursing intervention, the time to first flatus, time to first defecation, time to first off-bed activity and hospital stay in the experimental group were significantly shorter than those in the control group after surgery (P < 0.05). The number of postoperative complications in the experimental group was remarkably lower than that in the control group (P < 0.05). After intervention, degree of pain scores in the experimental group were lower than those of the control group (P < 0.05). After intervention, the scores of nursing satisfaction in the experimental group were higher than those of the control group (P < 0.05). CONCLUSION: Comprehensive high-quality nursing can improve the incidence of postoperative complications, degree of pain, nursing satisfaction, and the quality of life of gallstone patients during the perioperative period.