< em > TSHR < /em > Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism
CONCLUSIONS: We found a high frequency of TSHR variants in Chinese patients with CH (12.3%), and 4.9% of cases were caused by TSHR biallelic variants. Ten variants were identified as loss-of-function variants. The data suggest that the clinical phenotype of CH patients caused by TSHR biallelic variants is relatively mild. Our study expands the TSHR variant spectrum and provides further evidence for the elucidation of the genetic etiology of CH.PMID:38433572 | DOI:10.3343/alm.2023.0337 (Source: Annals of Laboratory Medicine)
Source: Annals of Laboratory Medicine - March 4, 2024 Category: Laboratory Medicine Authors: Hai-Yang Zhang Feng-Yao Wu Xue-Song Li Ping-Hui Tu Cao-Xu Zhang Rui-Meng Yang Ren-Jie Cui Chen-Yang Wu Ya Fang Liu Yang Huai-Dong Song Shuang-Xia Zhao Source Type: research
Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies
CONCLUSIONS: OGM shows a high level of concordance with conventional diagnostic methods for the detection of SVs and can identify novel variants, suggesting its potential utility in enabling more comprehensive SV analysis in routine diagnostics of hematologic malignancies, although further studies and improvements are required.PMID:38433573 | DOI:10.3343/alm.2023.0339 (Source: Annals of Laboratory Medicine)
Source: Annals of Laboratory Medicine - March 4, 2024 Category: Laboratory Medicine Authors: Yeeun Shim Yu-Kyung Koo Saeam Shin Seung-Tae Lee Kyung-A Lee Jong Rak Choi Source Type: research
Clonal Distribution and Its Association With the Carbapenem Resistance Mechanisms of Carbapenem-Non-Susceptible < em > Pseudomonas aeruginosa < /em > Isolates From Korean Hospitals
CONCLUSIONS: Frameshift mutations in oprD combined with MBL production or hyperproduction of AmpC are responsible for carbapenem resistance in P. aeruginosa. Further attention is required to curb the emergence and spread of new carbapenem-resistant P. aeruginosa clones.PMID:38433574 | DOI:10.3343/alm.2023.0369 (Source: Annals of Laboratory Medicine)
Source: Annals of Laboratory Medicine - March 4, 2024 Category: Laboratory Medicine Authors: Nayeong Kim Seo Yeon Ko Seong Yong Park Seong Yeob Kim Da Eun Lee Ki Tae Kwon Yu Kyung Kim Je Chul Lee Source Type: research
< em > TSHR < /em > Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism
CONCLUSIONS: We found a high frequency of TSHR variants in Chinese patients with CH (12.3%), and 4.9% of cases were caused by TSHR biallelic variants. Ten variants were identified as loss-of-function variants. The data suggest that the clinical phenotype of CH patients caused by TSHR biallelic variants is relatively mild. Our study expands the TSHR variant spectrum and provides further evidence for the elucidation of the genetic etiology of CH.PMID:38433572 | DOI:10.3343/alm.2023.0337 (Source: Annals of Laboratory Medicine)
Source: Annals of Laboratory Medicine - March 4, 2024 Category: Laboratory Medicine Authors: Hai-Yang Zhang Feng-Yao Wu Xue-Song Li Ping-Hui Tu Cao-Xu Zhang Rui-Meng Yang Ren-Jie Cui Chen-Yang Wu Ya Fang Liu Yang Huai-Dong Song Shuang-Xia Zhao Source Type: research
Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies
CONCLUSIONS: OGM shows a high level of concordance with conventional diagnostic methods for the detection of SVs and can identify novel variants, suggesting its potential utility in enabling more comprehensive SV analysis in routine diagnostics of hematologic malignancies, although further studies and improvements are required.PMID:38433573 | DOI:10.3343/alm.2023.0339 (Source: Annals of Laboratory Medicine)
Source: Annals of Laboratory Medicine - March 4, 2024 Category: Laboratory Medicine Authors: Yeeun Shim Yu-Kyung Koo Saeam Shin Seung-Tae Lee Kyung-A Lee Jong Rak Choi Source Type: research
Clonal Distribution and Its Association With the Carbapenem Resistance Mechanisms of Carbapenem-Non-Susceptible < em > Pseudomonas aeruginosa < /em > Isolates From Korean Hospitals
CONCLUSIONS: Frameshift mutations in oprD combined with MBL production or hyperproduction of AmpC are responsible for carbapenem resistance in P. aeruginosa. Further attention is required to curb the emergence and spread of new carbapenem-resistant P. aeruginosa clones.PMID:38433574 | DOI:10.3343/alm.2023.0369 (Source: Annals of Laboratory Medicine)
Source: Annals of Laboratory Medicine - March 4, 2024 Category: Laboratory Medicine Authors: Nayeong Kim Seo Yeon Ko Seong Yong Park Seong Yeob Kim Da Eun Lee Ki Tae Kwon Yu Kyung Kim Je Chul Lee Source Type: research
< em > TSHR < /em > Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism
CONCLUSIONS: We found a high frequency of TSHR variants in Chinese patients with CH (12.3%), and 4.9% of cases were caused by TSHR biallelic variants. Ten variants were identified as loss-of-function variants. The data suggest that the clinical phenotype of CH patients caused by TSHR biallelic variants is relatively mild. Our study expands the TSHR variant spectrum and provides further evidence for the elucidation of the genetic etiology of CH.PMID:38433572 | DOI:10.3343/alm.2023.0337 (Source: Annals of Laboratory Medicine)
Source: Annals of Laboratory Medicine - March 4, 2024 Category: Laboratory Medicine Authors: Hai-Yang Zhang Feng-Yao Wu Xue-Song Li Ping-Hui Tu Cao-Xu Zhang Rui-Meng Yang Ren-Jie Cui Chen-Yang Wu Ya Fang Liu Yang Huai-Dong Song Shuang-Xia Zhao Source Type: research
Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies
CONCLUSIONS: OGM shows a high level of concordance with conventional diagnostic methods for the detection of SVs and can identify novel variants, suggesting its potential utility in enabling more comprehensive SV analysis in routine diagnostics of hematologic malignancies, although further studies and improvements are required.PMID:38433573 | DOI:10.3343/alm.2023.0339 (Source: Annals of Laboratory Medicine)
Source: Annals of Laboratory Medicine - March 4, 2024 Category: Laboratory Medicine Authors: Yeeun Shim Yu-Kyung Koo Saeam Shin Seung-Tae Lee Kyung-A Lee Jong Rak Choi Source Type: research
Clonal Distribution and Its Association With the Carbapenem Resistance Mechanisms of Carbapenem-Non-Susceptible < em > Pseudomonas aeruginosa < /em > Isolates From Korean Hospitals
CONCLUSIONS: Frameshift mutations in oprD combined with MBL production or hyperproduction of AmpC are responsible for carbapenem resistance in P. aeruginosa. Further attention is required to curb the emergence and spread of new carbapenem-resistant P. aeruginosa clones.PMID:38433574 | DOI:10.3343/alm.2023.0369 (Source: Annals of Laboratory Medicine)
Source: Annals of Laboratory Medicine - March 4, 2024 Category: Laboratory Medicine Authors: Nayeong Kim Seo Yeon Ko Seong Yong Park Seong Yeob Kim Da Eun Lee Ki Tae Kwon Yu Kyung Kim Je Chul Lee Source Type: research
Guide to Rho(D) Immune Globulin in Women With Molecularly Defined Asian-type DEL (c.1227G & gt;A)
We report that mothers with molecularly defined Asian-type DEL, similar to those with weak D types 1, 2, 3, 4.0, and 4.1, do not require RhIG before and after delivery. Collectively, this review could pave the way for the revision of international guidelines to include the selective use of RhIG based on specific genotypes, particularly in women with the Asian-type DEL.PMID:38384203 | DOI:10.3343/alm.2023.0356 (Source: Annals of Laboratory Medicine)
Source: Annals of Laboratory Medicine - February 22, 2024 Category: Laboratory Medicine Authors: In Hwa Jeong SooHo Yu Tae Yeul Kim Soo-Young Oh Duck Cho Source Type: research
