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1.
Am J Med Genet A ; 194(4): e63502, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38102777

RESUMO

The increased utilization of clinical genomic sequencing in the past decade has ushered in the era of genomic medicine, requiring genetics providers to acquire new skills and adapt their practices. The change in workplace responsibilities of clinical/medical geneticists (CMGs) and genetic counselors (GCs) in North America, due to the evolution of genetic testing, has not been studied. We surveyed CMGs (n = 80) and GCs (n = 127) with experience in general/pediatric genetics to describe their current practice of clinical tasks and the change in regularity of performing these tasks over the past 5-10 years. Currently, complementarity of responsibilities between CMGs and GCs clearly exists but providers who have been in the field for longer have noted role changes. Trends indicate that fewer experienced CMGs perform physical exams and select genetic tests than before and fewer experienced GCs complete requisitions and write result letters. The frequency of CMGs and GCs who investigate genetic test results, however, has increased. This study provides insight into the changing landscape of clinical genetics practice. Our findings suggest that the roles and responsibilities of CMGs and GCs have shifted in the past decade.


Assuntos
Conselheiros , Criança , Humanos , Aconselhamento Genético , Medicina Genômica , Testes Genéticos , América do Norte
2.
Animals (Basel) ; 13(13)2023 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-37443906

RESUMO

In the poultry industry, there is an urgent need to evaluate and introduce natural, effective, and safe alternatives for synthetic antibiotics, which have been banned in most countries. The present study aimed to investigate the effects of dietary supplementation with Piper sarmentosum extract (PSE) on the growth performance, intestinal barrier function, and metabolism of growing chickens. A total of 400 seven-day-old female chicks were randomly assigned to four dietary treatments, each of which consisted of five replicates and twenty birds each. The four experimental treatments were fed a basal diet containing 0, 100, 200, and 300 mg PSE/kg (BC, PSE1, PSE2, and PSE3 groups), respectively. The experiment lasted for 28 days. The results showed that dietary supplementation with PSE had no significant effects on the final body weight, average daily gain (ADG), average daily feed intake (ADFI), and the ratio of ADFI to ADG (F/G) (p > 0.05). Compared with the BC group, dietary supplementation with 200-300 mg/kg PSE increased the villus height in the jejunum and ileum of chickens (p < 0.05). The PSE-treated groups significantly increased the mRNA expression of Occludin, ZO-1, and Claudin-1 in the ileal mucosa of chickens (p < 0.05). In addition, a significant decrease in ileal TNF-α and IL-8 mRNA expression (p < 0.05) and a significant increase in IL-22 (p < 0.05) were observed in the PSE2 treatment compared to the BC group. Additionally, three gut metabolites (i.e., citrate, isocitrate, and spermine) showed significant differences among treatments (p < 0.05) and were involved in the tricarboxylic acid (TCA) cycle, the transfer of acetyl groups into mitochondria, and spermidine and spermine biosynthesis, respectively. In conclusion, the findings obtained here indicate that supplemental PSE can enhance the anti-inflammatory capacity and intestinal mucosal barrier function of chickens.

3.
Chem Commun (Camb) ; 55(8): 1116-1119, 2019 Jan 25.
Artigo em Inglês | MEDLINE | ID: mdl-30624438

RESUMO

The direct N1-selective allylation of indoles with allylic alcohols has been accomplished by synergistic functions of palladium catalysts and titanium tetraisopropoxide. The site selectivity is notably different from that observed in other related transition metal-catalyzed approaches. This chemistry provides a facile route to a variety of allylated indoles in synthetically useful yields. The utility of this simple allylation reaction was demonstrated with the first total synthesis of (+)-N-(4'-hydroxyprenyl)-cyclo(alanyltryptophyl), which was completed in five steps, starting from l-tryptophan methyl ester hydrochloride.

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