Quality of life in children with McCune-Albright syndrome and its influencing factors / 中华实用儿科临床杂志

Objective:To investigate the quality of life in children with McCune-Albright syndrome (MAS) and its influencing factors, so as to provide scientific basis for improving their quality of life.Methods:The clinical data of 31 children with MAS diagnosed (MAS group) and followed up in Henan Children′s Hospital from June 2015 to December 2021 were retrospectively analyzed.During the same period, 37 healthy age and sex-matched children at a ratio of 1∶1 were recruited as healthy control group.The children′s Quality of Life Universal Core Scale (PedsQL?4.0) was used for the investigation and comparative analysis.Statistical analysis was performed using the independent sample t test, Chi- square test and multiple regression analysis. Results:Compared with the healthy control group, the physiological function ( t=2.092, P<0.05), emotional function ( t=2.373, P<0.05) and total score ( t=2.360, P<0.05) of MAS group significantly decreased.Multiple regression analysis showed that physiological function was negatively correlated with the annual number of vaginal bleeding ( t=-2.367, P<0.05) and the age of first fracture ( t=-2.606, P<0.05). Social function was negatively correlated with the number of fractures ( t=-2.481, P<0.05). Conclusions:The overall quality of life of MAS children is low, especially the quality of physiological function and emotional function.The annual number of vaginal bleedings, the age of the first fracture and the number of fractures are influencing factors for the reduction of the quality of life of children with MAS.

Genetic analysis of a case with 11β hydroxylase deficiency caused by CYP11B2/CYP11B1 chimeric gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze a child with 11β hydroxylase deficiency (11β-OHD) due to CYP11B2/CYP11B1 chimeric gene.@*METHODS@#Clinical data of the child who was admitted to Henan Children's Hospital on August 24, 2020 were retrospectively analyzed. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. RT-PCR and Long-PCR were carried out to verify the presence of chimeric gene.@*RESULTS@#The patient, a 5-year-old male, had featured premature development of secondary sex characteristics and accelerated growth, and was diagnosed with 21 hydroxylase deficiency (21-OHD). WES revealed that he has harbored a heterozygous c.1385T>C (p.L462P) variant of the CYP11B1 gene, in addition to a 37.02 kb deletion on 8q24.3. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.1385T>C (p.L462P) was rated as a likely pathogenic variant (PM2_Supporting+PP3_Moderate+PM3+PP4). The results of RT-PCR and Long-PCR suggested that CYP11B1 and CYP11B2 genes have recombined to form a CYP11B2 exon 1~7/CYP11B1 exon 7~9 chimeric gene. The patient was diagnosed as 11β-OHD and effectively treated with hydrocortisone and triptorelin. A healthy fetus was delivered following genetic counseling and prenatal diagnosis.@*CONCLUSION@#11β-OHD may be misdiagnosed as 21-OHD due to the potential CYP11B2/CYP11B1 chimeric gene, which will require multiple methods for the detection.

Effects of dexmedetomidine on oxygenation during one-lung ventilation for esophagectomy / 中国医师进修杂志

Objective To evaluate the effects of dexmedetomidine on hypoxic pulmonary vasoconstriction and oxygenation during one- lung ventilation (OLV) undergoing esophagectomy. Methods Fifty-six adult patients undergoing esophagectomy and requiring OLV were selected.During inhalational anesthesia with sevoflurane, patients were randomized to receive either dexmedetomidine (dexmedetomidine group,28 patients)or saline placebo(control group,28 patients). The bolus dose of 0.3 μg/kg over 10 min followed by a maintenance dose of 0.6 μg/(kg·h)was used in dexmedetomidine group. The arterial blood gas samples were obtained to evaluate the effects of dexmedetomidine on oxygenation in three times:T1:double-lung ventilation 10 min after anesthetic intubation;T2:OLV 10 min;T3:60 min after continuous infusion of dexmedetomidine. Outcomes included differences in hemodynamic parameters(heart rate and mean arterial pressure), end-tidal sevoflurane concentration, ephedrine dose and atropine dose.Results The levels of pH, arterial partial pressure of carbon dioxide(PaCO2)in two groups had no significant differences(P>0.05).The level of oxygenation index in two groups at T3had significant difference: (153.29 ± 19.00) mmHg(1 mmHg=0.133 kPa)vs. (117.79 ± 12.00) mmHg, 1 mmHg = 0.133 kPa, P < 0.01. At T3, the level of heart rate in dexmedetomidine group was significantly lower than that in control group:(68 ± 11)times/min vs.(89±13)tims/min;meanwhile, the level of end-tidal sevoflurane concentration in dexmedetomidine group was significantly lower than that in control group: (2.9 ± 0.8)% vs. (4.2 ± 0.1)%; there were significant differences (P < 0.01). The ephedrine dose in two groups had no significant difference(P>0.05).Conclusions Dexmedetomidine may provide clinically relevant benefits by improving oxygenation and decreasing the requirement of inhalational anaesthetic agents, thereby limiting its effect on hypoxic pulmonary vasoconstriction during OLV in adults undergoing esophagectomy surgical procedures.