We report on the first case of phenylketonuria in a Bedouin woman with 3 children having the phenylketonuria embryofetopathy. Herein, we discuss briefly hazards of late diagnosis of maternal phenylketonuria.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.1320440603 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Exoskeleton Robot Training in Two Patients with an Electrical Burn and Septic Arthritis: A Case Report.
J Burn Care Res
January 2025
Department of Rehabilitation Medicine, Hangang Sacred Heart Hospital, College of Medicine, Hallym University, Seoul, Korea.
Septic arthritis (SA) are rare in patients with burns, but delayed treatment can result in irreversible joint destruction. Early diagnosis and immediate treatment are necessary to prevent joint destruction. Robot training in patients with musculoskeletal diseases and burns, can improve joint range of motion (ROM), muscle strength, and lower extremity function.
View Article and Find Full Text PDFTen years' single surgeon experience of excision and primary anastomosis urethroplasty for traumatic urethral stricture: an analysis of risk factors for urethral stricture recurrence.
Arch Ital Urol Androl
January 2025
Urology Department, Faculty of Medicine, Universitas Brawijaya, Saiful Anwar General Hospital, Malang.
Introduction: Excision and primary anastomosis (EPA) urethroplasty is the standard treatment for traumatic urethral strictures, but managing them remains challenging for urologists. Identifying factors leading to EPA urethroplasty failure benefits both patients and surgeons. This study aims to analyze risk factors for urethral stricture recurrence after one-year follow-up of EPA urethroplasty.
View Article and Find Full Text PDFTemporal Trends of Fungal Infections in Cirrhotic Patients: A Retrospective Cohort Study 2016-2020.
J Clin Exp Hepatol
December 2024
Stanford University, Palo Alto, CA, United States.
Background: Patients with cirrhosis are susceptible to infections due to abnormalities in humoral and cell-mediated immunity. Fungal infections are associated with delayed diagnosis and high mortality rates, emphasizing the importance of performing fungal cultures and maintaining elevated levels of suspicion in this patient population.
Methods: This retrospective cohort study analyzes cirrhotic patients readmitted with bacterial and fungal infections and investigates outcomes, including in-hospital mortality and hospital resource utilization.
Integrating traditional machine learning with qPCR validation to identify solid drug targets in pancreatic cancer: a 5-gene signature study.
Front Pharmacol
January 2025
Department of General Surgery, The Fourth Affiliated Hospital of Guangxi Medical University, Liuzhou, China.
Background: Pancreatic cancer remains one of the deadliest malignancies, largely due to its late diagnosis and lack of effective therapeutic targets.
Materials And Methods: Using traditional machine learning methods, including random-effects meta-analysis and forward-search optimization, we developed a robust signature validated across 14 publicly available datasets, achieving a summary AUC of 0.99 in training datasets and 0.
Investigating the association of microRNA polymorphisms and lifestyle factors with the susceptibility to common gastrointestinal cancers in an Indian population- A case control study.
Heliyon
January 2025
Department of Prosthodontia, Sree Balaji Dental College & Hospital, Bharath Institute of Higher Education & Research, Chennai, India.
The cancers of the gastrointestinal (GI) tract have become a common diagnosis worldwide contributing to a large number of mortalities. Though potentially curable they are mostly fatal due to late diagnosis and lack of accurate diagnostic markers. microRNA, micromanagers of gene expression have been associated to have distinct roles as oncogenes or tumour suppressors in several cancers including GI cancers.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!