Interdisciplinary teaching in family medicine teaching units: the residents' points of view.

BACKGROUND: Interdisciplinary teaching (IDT) is the norm in Canadian family medicine residency programs. Literature on IDT reports many academic, collaborative and organizational benefits, but little is known about family medicine residents' own perspectives of IDT. The purpose of this study was to explore family medicine residents' points of view on IDT in family medicine teaching units (FMTU). METHODS: A mixed methods design combined interviews and self-completed online questionnaires to explore participants' perceptions of IDT during residency. Content analysis was conducted on the qualitative data and univariate analysis statistical tests on means and proportions were conducted on the quantitative survey questions. RESULTS: A total of 125 family medicine residents from 12 FMTU affiliated with Université Laval (Quebec City) participated in the study (11 interviews and 114 online questionnaires). Participants perceived significant benefits of IDT, including clinical knowledge, complementary perspectives and interprofessional collaboration skills. However, they believe that IDT works best when the educators adapt their teaching to the specific needs of residents in family medicine. CONCLUSION: These findings support those of previous IDT research and highlight the positive impacts of interdisciplinary education in family medicine residency, especially on interprofessional collaboration. IDT should remain an essential component of the family medicine curricula.

CONTEXTE: L'enseignement interdisciplinaire (EID) constitue une norme dans les programmes canadiens de résidence en médecine familiale. La littérature disponible sur l'EID fait état de plusieurs bénéfices académiques, collaboratifs et organisationnels, mais elle rend peu compte des points de vue des résidents sur ce type d'enseignement. Cette étude a pour objectif d'explorer les points de vue des résidents en médecine familiale quant à l'EID offert dans les unités de médecine familiale (UMF). MÉTHODES: Un devis mixte a été utilisé, s'appuyant sur des entrevues semi-dirigées et des questionnaires auto-administrés en ligne. Une analyse de contenu a été effectuée pour le volet qualitatif, et des analyses univariées et bi-variées ont été réalisées pour les données obtenues dans les questionnaires auto-administrés. RÉSULTATS: Un total de 125 résidents en médecine familiale, rattachés aux 12 UMF relevant de l'Université Laval (Québec), a participé à l'étude (11 entrevues et 114 questionnaires en ligne). Les participants reconnaissent des bénéfices significatifs à l'EID, tels l'acquisition et l'approfondissement de connaissances cliniques essentielles, l'intégration de perspectives complémentaires sur les problèmes de santé, et le développement d'habiletés à la collaboration interprofessionnelle. Ils estiment toutefois que l'EID peut s'optimiser en s'adaptant davantage aux besoins spécifiques des résidents en médecine familiale. CONCLUSIONS: À l'instar des études antérieures, les résultats de cette recherche mettent en relief les impacts positifs de l'EID pendant la résidence en médecine familiale, particulièrement ceux qui sont liés à l'apprentissage de la collaboration interprofessionnelle. L'EID devrait par conséquent demeurer une caractéristique essentielle des programmes de résidence en médecine familiale.

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.

Trisomy recurrence: a reconsideration based on North American data.

Few reliable data exist concerning the recurrence risk for individual trisomies or the risk for recurrence of trisomy for a different chromosome. We collected records from two sources: (1) prenatal diagnoses performed at the Hopital Sainte-Justine in Montreal and (2) karyotype analyses performed at Genzyme. Using the standardized morbidity ratio (SMR), we compared the observed number of trisomies at prenatal diagnosis with the expected numbers, given maternal age-specific rates (by single year). SMRs were calculated both for recurrence of the same trisomy (homotrisomy) and of a different trisomy (heterotrisomy). After all cases with an index trisomy 21 were combined, the SMR for homotrisomy was 2.4 (90% CI 1.6-3.4; P=.0005). For women with both the index trisomy and subsequent prenatal diagnosis at age <30 years, the SMR was 8.0; it was 2.1 for women with both pregnancies at age >/=30 years. For the other index viable trisomies (13, 18, XXX, and XXY) combined, the SMR for homotrisomy was 2.5 (90% CI 0.7-8.0). For heterotrisomy, the SMR after an index trisomy 21 was 2.3 (90% CI 1.5-3.8, P=.0007); the SMR did not vary with maternal age at the first trisomy. When all cases with index viable trisomies were combined, the SMR for heterotrisomy was 1.6 (90% CI 1.1-2.4; P=.04). For prenatal diagnoses following a nonviable trisomy diagnosed in a spontaneous abortion (from Genzyme data only), the SMR for a viable trisomy was 1.8 (90% CI 1.1-3.0; P=.04). The significantly increased risk for heterotrisomy supports the hypothesis that some women have a risk for nondisjunction higher than do others of the same age.

Tetrasomy Y by structural rearrangement: clinical report.

Poly-Y karyotypes, except for 47,XYY, are rare events in humans. For instance, Y chromosome tetrasomy has been reported 10 times, 2 of which were by structural rearrangement. We present a 2-year-and-4-month-old boy who was referred for cytogenetic assessment because of global psychomotor delay. The GTG- and CBG-banded karyotypes on PHA-stimulated lymphocytes showed two cell populations, one of them contained two identical isodicentric Y chromosomes, which was seen in 93% of metaphases analyzed, and a 45,X cell line (7%). This was confirmed by FISH with probes DYZ3 (recognizing the centromeric region of the Y chromosome), 91H4.5 (recognizing Yp11.2), and DYZ1 (recognizing Y heterochromatin in Yq12). The breakpoint has occurred near the telomeric end of the heterochromatic region. Therefore, the karyotype is mos 47,X,idic(Y)(q12)x2[123]/45,X[9]. This is the second time that such a karyotype has been reported. This chromosomal anomaly was formed most likely by a U-type exchange. Clinical features included speech delay, short stature, brachycephaly, large ears, bilateral epicanthal folds, hypertelorism, delayed teeth eruption, bilateral radio-ulnar synostosis, bilateral fifth finger clinodactyly, normal external genitalia, and impulsive behavior. The father had normal phenotype and karyotype. A review of the tetrasomy Y patients is presented. All patients with Y chromosome tetrasomy exhibit some degree of mental retardation, various skeletal abnormalities, and facial dysmorphism. Nevertheless, the correlation between karyotype and phenotype is not yet well defined since few cases have been reported. This clinical report will be helpful in defining the phenotypic range associated with tetrasomy Y.