Discovery of Hereditary Tyrosinemia in Saguenay- Lac St-Jean.

Given the interest of many people and families directly or indirectly affected by hereditary tyrosinemia (HT1), I have tried to give my view on the history of the disease from 1965 to 2015 (Fig. 1.1).

Impact of Type of Medical Specialist Involvement in Chronic Illness Care on Emergency Department Use.

OBJECTIVES: Medical specialist physicians may act as either consultants or co-managers for patients managed in primary care settings. We assessed whether the type of specialist involvement affected emergency department (ED) use for patients with chronic diseases. METHODS: In total, 709 primary care patients with arthritis, chronic obstructive pulmonary disease, diabetes or congestive heart failure were followed for one year using survey and administrative data. Multivariate logistic regressions were used to compare all-cause ED use according to specialist involvement (none, co-manager or consultant). RESULTS: In total, 240 (34%) patients visited the ED. ED use did not differ between those with specialist involvement and those without it, either as co-managers (adjusted OR = 1.06, 95% CI = [0.61, 1.85]) or consultants (adjusted OR = 0.97, 95% CI = [0.63, 1.50]). DISCUSSION: The type of specialist involvement is not associated with all-cause ED use in primary care patients with chronic diseases. Indications for co-management should be further investigated.

The primary-specialty care interface in chronic diseases: patient and practice characteristics associated with co-management.

OBJECTIVE: Specialist physicians may act either as consultants or co-managers for patients with chronic diseases along with their primary healthcare (PHC) physician. We assessed factors associated with specialist involvement. METHODS: We used questionnaire and administrative data to measure co-management and patient and PHC practice characteristics in 702 primary care patients with common chronic diseases. Analysis included multilevel logistic regressions. RESULTS: In all, 27% of the participants were co-managed. Persons with more severe chronic diseases and lower health-related quality of life were more likely to be co-managed. Persons who were older, had a lower socioeconomic status, resided in rural regions and who were followed in a PHC practice with an advanced practice nurse were less likely to be co-managed. DISCUSSION: Co-management of patients with chronic diseases by a specialist is associated with higher clinical needs but demonstrates social inequalities. PHC practices more adapted to chronic care may help optimize specialist resources utilization.

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.

BACKGROUND: Hepatorenal tyrosinemia (HT1, fumarylacetoacetate hydrolase deficiency, MIM 276700) can cause severe hepatic, renal and peripheral nerve damage. In Québec, HT1 is frequent and neonatal HT1 screening is practiced. Nitisinone (NTBC, Orfadin ®) inhibits tyrosine degradation prior to the formation of toxic metabolites like succinylacetone and has been offered to HT1 patients in Québec since 1994. METHODS: We recorded the clinical course of 78 Québec HT1 patients born between 1984 and 2004. There were three groups: those who never received nitisinone (28 patients), those who were first treated after 1 month of age (26 patients) and those treated before 1 month (24 patients). Retrospective chart review was performed for events before 1994, when nitisinone treatment began, and prospective data collection thereafter. FINDINGS: No hospitalizations for acute complications of HT1 occurred during 5731 months of nitisinone treatment, versus 184 during 1312 months without treatment (p<0.001). Liver transplantation was performed in 20 non-nitisinone-treated patients (71%) at a median age of 26 months, versus 7 late-treated patients (26%, p<0.001), and no early-treated patient (p<0.001). No early-treated patient has developed detectable liver disease after more than 5 years. Ten deaths occurred in non-nitisinone treated patients versus two in treated patients (p<0.01). Both of the latter deaths were from complications of transplantation unrelated to HT1. One probable nitisinone-related event occurred, transient corneal crystals with photophobia. INTERPRETATION: Nitisinone treatment abolishes the acute complications of HT1. Some patients with established liver disease before nitisinone treatment eventually require hepatic transplantation. Patients who receive nitisinone treatment before 1 month had no detectable liver disease after more than 5 years.

Influence of test position on neck muscle fatigue in healthy controls.

BACKGROUND: It has been suggested that increased fatigue of neck muscles could be related to neck pain. However, studies on the matter present contradicting results which could be explained by the different test positions used. PURPOSE: The purpose of this study was to investigate the influence of test position on muscle fatigue of neck flexor and extensor muscles in healthy controls. METHODS: Twenty-five women without neck pain sustained neck flexion and neck extension isometric contractions at 25% and 75% of their maximal voluntary contraction (MVC) in two test positions: sitting and supine lying. Using surface electromyography, the change over time of the median frequency of the power spectrum (MDF slope) of the myoelectric signal of the sternocleidomastoid and splenius capitis muscles was measured and compared between both positions. RESULTS: At 75% MVC, splenius capitis muscles presented higher fatigue in lying compared to sitting, while sternocleidomastoid demonstrated no difference between positions. No statistically significant effect of test position was found at 25% MVC for both sternocleidomastoid and splenius capitis muscles as they generally did not present myoelectric manifestations of fatigue. CONCLUSION: These results underline the need to standardise the test position when investigating neck muscle fatigue, especially for neck extensors at high loads.

Norms for 15- to 34-year-olds for different versions of the finger-to-nose test.

OBJECTIVES: To develop norms for the time to execute different versions of the finger-to-nose test (FNT) and to determine the effects of different testing procedures on performance in people aged 15 to 34 years. DESIGN: Cross-sectional. SETTING: Research center. PARTICIPANTS: Healthy subjects (149 men, 148 women; age range, 15-34 y) participated, and 36 men and 36 women were included in each of the 4 age categories studied (15-19 y, 20-24 y, 25-29 y, 30-34 y). Participants performed, in random order, 5 forms of the test in 2 positions (sitting, supine) with the right and left upper limbs (ULs). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURE: Time (in seconds) to complete 5 cycles of movement. RESULTS: Test version and side of UL were found to affect performances; right-sided performances were faster than left-sided. Performances did not vary significantly (P>.001) with sex or among age categories; therefore, the results are presented for the group. Mean performances varied from 3.44 to 4.29 seconds. Subsequent analysis of variance (with data for each UL) showed main effects for testing position (sitting > lying) and eye condition (eyes open > eyes closed). Versions were strongly interrelated (.85