A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China
CONCLUSIONS: We demonstrated that NBGS is an effective strategy to identify neonates affected with treatable diseases as a supplement to current NBS methods. Our data also showed that the prevalence of diseases has significant regional characteristics, which provides a theoretical basis for screening diseases in different regions.PMID:36847978 | DOI:10.1007/s12519-022-00670-x (Source: World Journal of Pediatrics : WJP)
Source: World Journal of Pediatrics : WJP - February 27, 2023 Category: Pediatrics Authors: Ru-Lai Yang Gu-Ling Qian Ding-Wen Wu Jing-Kun Miao Xue Yang Ben-Qing Wu Ya-Qiong Yan Hai-Bo Li Xin-Mei Mao Jun He Huan Shen Hui Zou Shu-Yuan Xue Xiao-Ze Li Ting-Ting Niu Rui Xiao Zheng-Yan Zhao Source Type: research
Deep intronic PAH variants explain missing heritability in hyperphenylalaninemia
Phenylalanine hydroxylase (PAH) deficiency or phenylketonuria (PKU) is the most common cause of hyperphenylalaninemia (HPA), and approximately 5% of patients remain genetically unsolved. Identifying deep intronic PAH variants may help improve their molecular diagnostic rate. Next-generation sequencing was utilized to detect the whole PAH gene in 96 genetically unsolved HPA patients from 2013 to 2022. The effects of deep intronic variants on pre-mRNA splicing were investigated by minigene-based assay. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - February 25, 2023 Category: Pathology Authors: Xiaomei Luo, Ruifang Wang, Yu Sun, Wenjuan Qiu, Deyun Lu, Yu Wang, Zhuwen Gong, Huiwen Zhang, Lianshu Han, Lili Liang, Xuefan Gu, Yongguo Yu, Bing Xiao Tags: Regular Article Source Type: research
Cognitive Functioning in Adults with Phenylketonuria in a Cohort of Spanish Patients
In conclusion, it has been shown that a combination of a low Phe diet, supplement intake, and keeping Phe levels in a low range seems appropriate to have the most normal and alike cognitive performance to persons without PKU.PMID:36815863 | PMC:PMC9931468 | DOI:10.1155/2023/9681740 (Source: Behavioural Neurology)
Source: Behavioural Neurology - February 23, 2023 Category: Neurology Authors: P M Luna J F L ópez-Paz M Garc ía I Amayra O Mart ínez M P érez A A Rodr íguez P P érez-Núñez I Ceberio N Mansilla C Soria Source Type: research
Cognitive Functioning in Adults with Phenylketonuria in a Cohort of Spanish Patients
In conclusion, it has been shown that a combination of a low Phe diet, supplement intake, and keeping Phe levels in a low range seems appropriate to have the most normal and alike cognitive performance to persons without PKU.PMID:36815863 | PMC:PMC9931468 | DOI:10.1155/2023/9681740 (Source: Behavioural Neurology)
Source: Behavioural Neurology - February 23, 2023 Category: Neurology Authors: P M Luna J F L ópez-Paz M Garc ía I Amayra O Mart ínez M P érez A A Rodr íguez P P érez-Núñez I Ceberio N Mansilla C Soria Source Type: research
Cognitive Functioning in Adults with Phenylketonuria in a Cohort of Spanish Patients
In conclusion, it has been shown that a combination of a low Phe diet, supplement intake, and keeping Phe levels in a low range seems appropriate to have the most normal and alike cognitive performance to persons without PKU.PMID:36815863 | PMC:PMC9931468 | DOI:10.1155/2023/9681740 (Source: Behavioural Neurology)
Source: Behavioural Neurology - February 23, 2023 Category: Neurology Authors: P M Luna J F L ópez-Paz M Garc ía I Amayra O Mart ínez M P érez A A Rodr íguez P P érez-Núñez I Ceberio N Mansilla C Soria Source Type: research
Cognitive Functioning in Adults with Phenylketonuria in a Cohort of Spanish Patients
In conclusion, it has been shown that a combination of a low Phe diet, supplement intake, and keeping Phe levels in a low range seems appropriate to have the most normal and alike cognitive performance to persons without PKU.PMID:36815863 | PMC:PMC9931468 | DOI:10.1155/2023/9681740 (Source: Behavioural Neurology)
Source: Behavioural Neurology - February 23, 2023 Category: Neurology Authors: P M Luna J F L ópez-Paz M Garc ía I Amayra O Mart ínez M P érez A A Rodr íguez P P érez-Núñez I Ceberio N Mansilla C Soria Source Type: research
Overweight and obesity in adult patients with phenylketonuria: a systematic review
Excess weight is a rising concern in patients with phenylketonuria (PKU). It is commonly observed in children and adolescents with PKU; but data on adults are inconsistent. This review aims to summarize availa... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 22, 2023 Category: Internal Medicine Authors: Aurel T. Tankeu, Despina Christina Pavlidou, Andrea Superti-Furga, Karim Gariani and Christel Tran Tags: Research Source Type: research
Dietary and metabolic effects on the oral status of patients with phenylketonuria: a nation-based cross-sectional study
ConclusionsThe results showed a higher risk for the development of caries, periodontitis, and enamel defects in PKU patients.Clinical relevanceImplementation of preventive measures and regular dental care is necessary for patients with PKU. (Source: Clinical Oral Investigations)
Source: Clinical Oral Investigations - February 20, 2023 Category: Dentistry Source Type: research
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7 ‐year study in eastern coastal areas of China
ConclusionThis study displayed the diseases and varied spectrum of IEM in eastern coastal areas of China. Implementing NBS for IEM by MS/MS combined with massively parallel sequencing can offer an improved plan for NBS to detect IEM. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 14, 2023 Category: Genetics & Stem Cells Authors: Shuai Men,
Shuang Liu,
Qin Zheng,
Shuting Yang,
Huafen Mao,
Zhiwei Wang,
Ying Gu,
Xinxin Tang,
Leilei Wang Tags: ORIGINAL ARTICLE Source Type: research
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China
CONCLUSION: This study displayed the diseases and varied spectrum of IEM in eastern coastal areas of China. Implementing NBS for IEM by MS/MS combined with massively parallel sequencing can offer an improved plan for NBS to detect IEM.PMID:36787440 | DOI:10.1002/mgg3.2152 (Source: Molecular Medicine)
Source: Molecular Medicine - February 14, 2023 Category: Molecular Biology Authors: Shuai Men Shuang Liu Qin Zheng Shuting Yang Huafen Mao Zhiwei Wang Ying Gu Xinxin Tang Leilei Wang Source Type: research
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China
CONCLUSION: This study displayed the diseases and varied spectrum of IEM in eastern coastal areas of China. Implementing NBS for IEM by MS/MS combined with massively parallel sequencing can offer an improved plan for NBS to detect IEM.PMID:36787440 | DOI:10.1002/mgg3.2152 (Source: Molecular Medicine)
Source: Molecular Medicine - February 14, 2023 Category: Molecular Biology Authors: Shuai Men Shuang Liu Qin Zheng Shuting Yang Huafen Mao Zhiwei Wang Ying Gu Xinxin Tang Leilei Wang Source Type: research
Cross-sectional audit assessing the quality of dried bloodspot specimens received by UK metabolic biochemistry laboratories for the biochemical monitoring of individuals with Phenylketonuria
CONCLUSIONS: There is significant variability in the quality of patient-collected DBS specimens. If unacceptable specimens are not rejected, imprecise/inaccurate results will be used in clinical decision making. Using annual workload data for England, this equates to 12,410 incorrect results. Individuals and parents/carers should receive ongoing training in blood collection technique to ensure use of evidence-based acceptability criteria does not cause undue distress from increased sample rejection rates.PMID:36762708 | DOI:10.1177/00045632231156035 (Source: Clinical Biochemistry)
Source: Clinical Biochemistry - February 10, 2023 Category: Biochemistry Authors: Sarah L Hogg Rachel S Carling Nathan Wp Cantley Gillian Hamilton Philippa Goddard Helen Aitkenhead Robert Barski Catherine Collingwood Stuart J Moat Helena J Kemp Source Type: research
Cross-sectional audit assessing the quality of dried bloodspot specimens received by UK metabolic biochemistry laboratories for the biochemical monitoring of individuals with Phenylketonuria
CONCLUSIONS: There is significant variability in the quality of patient-collected DBS specimens. If unacceptable specimens are not rejected, imprecise/inaccurate results will be used in clinical decision making. Using annual workload data for England, this equates to 12,410 incorrect results. Individuals and parents/carers should receive ongoing training in blood collection technique to ensure use of evidence-based acceptability criteria does not cause undue distress from increased sample rejection rates.PMID:36762708 | DOI:10.1177/00045632231156035 (Source: Clinical Biochemistry)
Source: Clinical Biochemistry - February 10, 2023 Category: Biochemistry Authors: Sarah L Hogg Rachel S Carling Nathan Wp Cantley Gillian Hamilton Philippa Goddard Helen Aitkenhead Robert Barski Catherine Collingwood Stuart J Moat Helena J Kemp Source Type: research
Phenylalanine free infant formula in the dietary management of phenylketonuria
We report a multicentre, open, longitudinal, prospective interve... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 25, 2023 Category: Internal Medicine Authors: Ozlem Yilmaz, Barbara Cochrane, Jo Wildgoose, Alex Pinto, Sharon Evans, Anne Daly, Catherine Ashmore and Anita MacDonald Tags: Research Source Type: research
The correlation of lipid profile and waist circumference with phenylalanine levels in adult patients with classical phenylketonuria
CONCLUSIONS: High Phe levels and wide Phe fluctuations were related to weight gain, increased WC and lipid profile abnormalities. Systematic CVR assessments and comprehensive monitoring of Phe levels may be desirable to prevent or delay cardiovascular disease in PKU patients.PMID:36628809 | DOI:10.1016/j.medcli.2022.09.025 (Source: Medicina Clinica)
Source: Medicina Clinica - January 11, 2023 Category: General Medicine Authors: Nestor Vazquez-Agra Silvia Fernandez-Crespo Ana-Teresa Marques-Afonso Anton Cruces-Sande Sofia Barbosa-Gouveia Miguel-Angel Martinez-Olmos Alvaro Hermida-Ameijeiras Source Type: research
