[Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development].

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.

An audit of the haemodynamic and emergence characteristics of single-shot 'ketofol'.

'ketofol', the single-syringe combination of ketamine and propofol (50 mg of ketamine and 90 mg of propofol in a 10 ml syringe) is becoming increasingly popular for short procedures, progressively replacing the more traditional use of ketamine and diazepam in some settings. This audit examined the haemodynamic, emergence and other characteristics of ketofol administration in 42, otherwise fit, women undergoing bilateral post-partum tubal ligation at Vila Central Hospital in Vanuatu. The combination of ketamine and propofol had no clinically important adverse haemodynamic effects. Wake-up from ketofol was favourable, with low rates of nausea and minimal emergence delirium. However, 43% of patients required airway support. For short procedures such as post-partum tubal ligation in fit patients, ketofol appears to have minimal adverse haemodynamic effects and favourable emergence characteristics.

Food and drug cues activate similar brain regions: a meta-analysis of functional MRI studies.

In healthy individuals, food cues can trigger hunger and feeding behavior. Likewise, smoking cues can trigger craving and relapse in smokers. Brain imaging studies report that structures involved in appetitive behaviors and reward, notably the insula, striatum, amygdala and orbital frontal cortex, tend to be activated by both visual food and smoking cues. Here, by carrying out a meta-analysis of human neuro-imaging studies, we investigate the neural network activated by: 1) food versus neutral cues (14 studies, 142 foci) 2) smoking versus neutral cues (15 studies, 176 foci) 3) smoking versus neutral cues when correlated with craving scores (7 studies, 108 foci). PubMed was used to identify cue-reactivity imaging studies that compared brain response to visual food or smoking cues to neutral cues. Fourteen articles were identified for the food meta-analysis and fifteen articles were identified for the smoking meta-analysis. Six articles were identified for the smoking cue correlated with craving analysis. Meta-analyses were carried out using activation likelihood estimation. Food cues were associated with increased blood oxygen level dependent (BOLD) response in the left amygdala, bilateral insula, bilateral orbital frontal cortex, and striatum. Smoking cues were associated with increased BOLD signal in the same areas, with the exception of the insula. However, the smoking meta-analysis of brain maps correlating cue-reactivity with subjective craving did identify the insula, suggesting that insula activation is only found when craving levels are high. The brain areas identified here are involved in learning, memory and motivation, and their cue-induced activity is an index of the incentive salience of the cues. Using meta-analytic techniques to combine a series of studies, we found that food and smoking cues activate comparable brain networks. There is significant overlap in brain regions responding to conditioned cues associated with natural and drug rewards.

Note: Non-destructive measurement of thermal effusivity of a solid and liquid using a freestanding serpentine sensor-based 3ω technique.

A non-destructive thermal effusivity characterization method described as a freestanding serpentine sensor-based 3ω technique was reported. This freestanding serpentine sensor was fabricated by the mature flexible printed circuit production technique. Expression for the temperature response of the freestanding serpentine sensor with respect to the thermal effusivity of the test sample was presented. The technique was further verified by measuring four kinds of standard samples at room temperature. Experimental results which well agree with reference values demonstrate the new technique is of great application value to thermal effusivity characterization of solids, liquids, and structures to which the conventional 3ω technique is not applicable, e.g., solids with porous surfaces.

The freestanding sensor-based 3ω technique for measuring thermal conductivity of solids: principle and examination.

In recent two decades, the 3ω technique has been proven to be valuable for characterizing thermophysical properties of materials from nanoscale to bulk, but some inherent deficiencies in this technique such as laborious and repeated four-pad micro strip heater/sensor deposition process and flimsiness of the micro heater/sensor limit its practical applications. Here, the authors report a novel 3ω technique, based on a freestanding sensor replacing the conventional 3ω heater/sensor adjacent to the specimen surface. A zigzag temperature response curve of the new sensor instead of the classical straight line was observed and used to extract the specimen thermal conductivity. Experimental results which excellently agree with calculation values show that the new technique is of great application value to thermal properties characterization of amorphous bulks and hundreds of microns thick wafers.

Up-regulation of expression of interferon-stimulated gene 15 in the bovine corpus luteum during early pregnancy.

Interferon-tau (IFNT), the pregnancy recognition signal in ruminant species, is secreted by conceptus trophectoderm cells and induces expression of IFN-stimulated gene 15 (ISG15) in the uterus and corpus luteum (CL) in ewes. Expression of ISG15 in ovine CL is speculated to be through an endocrine pathway, but it is unclear whether expression of ISG15 in bovine CL is via such a pathway. In this study, CL were obtained from cows on d 16, 25, 60, 120, 180, and 270 of pregnancy, and endometrium, mammary gland, ovarian stroma, and CL were also collected from cows on d 18 of pregnancy and on d 15 and 18 of the estrous cycle. All tissue explants from d 15 of the estrous cycle were cultured in the absence or presence of 100ng/mL of recombinant bovine IFNT for 24h. The results indicated that ISG15 and conjugated proteins were expressed in CL of both cyclic and pregnant cows regardless of pregnancy status and were upregulated during early pregnancy. The mammary gland from d 18 of pregnancy did not express ISG15, but explants of the mammary gland from d 15 of the estrous cycle did express ISG15 after being treated with IFNT. However, luteal explants from d 15 of the estrous cycle did not express ISG15 after being cultured for 24h. In conclusion, ISG15 expression is upregulated in the bovine CL during early pregnancy. Interestingly, cultured CL cells do not respond to IFNT, suggesting that the pregnancy-dependent stimulation of ISG15 expression is controlled by something other than IFNT in the bloodstream.