[A family study of the compound heterozygous mutation of the UGT1A1 gene causing Crigler-Najjar syndrome type II].

Objective: To investigate the family gene features in Crigler-Najjar syndrome (CNS) type II. Methods: The UGT1A1 gene and related bilirubin metabolism genes were comprehensively analysed in a CNS-II family (3 CNS-II, 1 Gilbert syndrome, and 8 normal subjects). The genetics basis of CNS-II were investigated from the perspective of family analysis. Results: In three cases, compound heterozygous mutations at three sites of the UGT1A1 gene (c.-3279T > G, c.211G > A and c.1456T > G) caused CNS-II. Gilbert syndrome and CNS-II were not significantly associated with distribution or diversity loci. Conclusion: The compound heterozygous pathogenic mutations (c.-3279T > G, c.211G > A, and c.1456T > G) at three loci of the UGT1A1 gene may be the feature of the newly discovered CNS-II family genes based on the CNS-II family study.

Efficacy of scalp cooling for prevention of chemotherapy induced alopecia: a systematic review and meta-analysis.

OBJECTIVE: The aim of the study was to compare the risk of chemotherapy induced alopecia among patients with scalp cooling therapy, compared to those that did not receive scalp cooling. MATERIALS AND METHODS: A systematic search was conducted in the PubMed, Scopus, Cochrane Database of Systematic Reviews and Google scholar databases. Studies, preferably randomized controlled trials, that compared scalp cooling with no scalp cooling (control) for risk of alopecia or hair loss in patients undergoing chemotherapy were considered for inclusion. The strength of association was presented in the form of pooled adjusted relative risk (RR) for categorical outcomes and weighted mean difference (WMD) for continuous outcomes. Statistical analysis was done using STATA version 16.0. RESULTS: A total of 14 articles were identified, of which 9 were included in the meta-analysis and for the remaining 5 articles, the findings were synthesized descriptively. Compared to control group patients, those that received scalp cooling had 41% lower risk of alopecia [RR 0.59, 95% CI: 0.53, 0.66]. The overall quality of pooled evidence for the risk of alopecia was judged "moderate". There were no differences in the anxiety score [WMD 0.57, 95% CI: -0.55, 1.69], depression score [WMD 0.31, 95% CI: -1.19, 1.80], score reflecting emotional functioning [WMD 0.06, 95% CI: -1.37, 1.49] and social functioning [WMD -8.37, 95% CI: -25.7, 8.93] among the two groups of patients. The pooled evidence suggests that around 66% (95% CI: 37-95%) of the subjects reported some discomfort with use of scalp cooling system. The commonly reported complaints included headache, scalp and neck pain, discomfort due to chill, nausea/vomiting and dizziness. CONCLUSIONS: Findings suggest that the use of scalp cooling, compared to no scalp cooling, reduces the risk of significant hair loss. The acceptability of this cooling system might be limited by a high incidence of reported complaints.

[Relationship between cognitive impairment and sleep-related respiratory indexes in patients with obstructive sleep apnea].

Objectives: To investigate the cognitive impairment in patients with obstructive sleep apnea (OSA), and it's relationship with sleep-related respiratory indexes. Methods: A total of 126 patients who were diagnosed with OSA and received treatment in the Sichuan Mental Health Center from March 2018 to September 2018 were selected as the OSA group, and 92 healthy volunteers with matched age, gender and education level were also recruited as the control group. All participants were assessed by polysomnography and the montreal cognitive assessment scale (MOCA). Results: (1) The total score of MOCA, visual space/executive function score, attention score, language function score and memory score in OSA group were significantly lower than those in the control group (23±4 vs 25±4, 2.0±1.7 vs 2.9±1.5, 5.4±1.0 vs 5.7±0.7, 2.7±0.6 vs 2.9±0.3, 2.6±1.4 vs 3.0±1.4, all P<0.05). The correlation analysis showed that MOCA score was in positive correlation with education level (r=0.585, P<0.001) and mean oxygen saturation (r=0.207, P=0.020). However, the MOCA score was in negative correlation with age (r=-0.564, P<0.001) and time in bed (TIB) (r=-0.205, P=0.021). There was no correlation between MOCA score and apnea-hypopnea index (AHI) (r=-0.006, P=0.949). Multiple linear regression analysis revealed that age (t=-4.133, P<0.001), education level (t=4.001, P<0.001) and mean oxygen saturation (t=2.036, P=0.044) were the major factors that contributed to the cognitive impairment of OSA patients. Conclusions: Patients with OSA have cognitive impairment. The impairment gets more obvious when more severe hypoxia occurs at night, but it's not related to AHI.

[Does age affect the hidden blood loss of elderly intertrochanteric fracture patients fixed with combined external fixator?]

Objective: To evaluate the postoperatively hidden blood loss of elderly intertrochanteric fracture patients fixed with combined external fixator, and to explore the correlation between hidden blood loss and age. Methods: A retrospective analysis was conducted on 60 elderly intertrochanteric fracture patients who were admitted to the Department of Orthopedics of Hebei Provincial Hospital from January 2016 to May 2019. All the fractures were fixed with combined external fixators. The patients were divided into two groups according to the age: there were 31 cases in group A (60-80 years old) and 29 cases in group B (≥80 years old). The Gross equation and the Nandler formula were used to evaluate the amount of hidden blood loss based on changes in hematocrit (Hct) at the day preoperatively, 3 days postoperatively and the weight. The data were compared between the two groups by independent-sample t test. Results: The decreased Hct, hemoglobin(Hb) and the dominant blood loss and hidden blood loss in group A and B was 3.4%±1.7%, (13±7) g/L, (25±6) ml, (186±7) ml and 3.8%±1.2%, (13±3) g/L, (24±8) ml, (194±7) ml, respectively. There was no significant differences in the dominant and hidden blood loss between the groups (t=0.309, 0.883, both P>0.05). Conclusion: The age doesn't affect the hidden blood loss in elderly intertrochanteric fracture patients fixed with combined external fixator, which indicated that the operation is safe and reliable for such patients.