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Longitudinal Studies

Longitudinal Studies

Longitudinal studies are also widely used in other medical and social science fields. For instance, in cardiovascular research, they can monitor patients' health over decades to identify risk factors for heart disease, such as high cholesterol or smoking, and evaluate the long-term effectiveness of preventive measures. Similarly, in mental health studies, researchers might follow individuals from adolescence into adulthood to understand the development and progression of conditions like...

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Updated: Feb 25, 2026

Practical Methodology of Cognitive Tasks Within a Navigational Assessment

Practical Methodology of Cognitive Tasks Within a Navigational Assessment

Published on: June 1, 2015

The Québec NTBC Study.

, Fernando Alvarez¹, Suzanne Atkinson²

¹Service de gastroentérologie, hépatologie et nutrition, CHU Sainte-Justine, Université de Montréal, 3175 chemin Côte-Sainte-Catherine, Montréal, Québec, H3T 1C5, Canada.

Advances in Experimental Medicine and Biology

|July 30, 2017

Summary

This summary is machine-generated.

Quebec

Keywords:

Diet Nitisinone Quebec Québec Screening Surveillance Treatment Tyrosinemia

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Area of Science:

Medical Genetics
Hepatology
Newborn Screening

Background:

Hepatorenale Tyrosinemia type 1 (HT1) is a rare genetic disorder.
Quebec has a high prevalence of HT1 and established universal newborn screening.
Nitisinone (NTBC) and special diet are available treatments.

Purpose of the Study:

To describe the Quebec NTBC Study protocol for managing HT1.
To detail the surveillance and multidisciplinary care for patients with HT1.
To report outcomes regarding hepatocellular carcinoma development.

Main Methods:

Universal newborn screening for HT1.
Treatment initiation with nitisinone (NTBC) and diet within 3 weeks of birth.
Regular monitoring including plasma amino acids, NTBC levels, succinylacetone (SA) assays, and abdominal ultrasounds.
Annual multidisciplinary evaluations and advanced imaging as needed.

Main Results:

No patients treated before 1 month of age have developed hepatocellular carcinoma.
Long-term surveillance data up to 20 years is available for some patients.
This cohort represents the largest group worldwide treated rapidly post-newborn screening.

Conclusions:

The Quebec NTBC Study protocol effectively manages HT1.
Early intervention and comprehensive surveillance prevent hepatocellular carcinoma.
The protocol is adaptable for long-term patient management.