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At least 19 recordsLinked to original sources
PubMed1979

Screening for congenital hypothyroidism: results of screening one million North American infants.

Pilot programs for screening of newborn infants for congenital hypothyroidism began in North America in 1972. To date, the five oldest programs (Quebec, Pittsburgh, Toronto, Oregon Regional, and New England Regional) have screened 1,046,362 infants. A total of 277 infants with congenital hypothyroidism have been detected and seven have been missed, resulting in a total of 284 affected infants in the screened population and an overall incidence of one in 3,684 live births. Of the affected infants, 246 were determined to have primary hypothyroidism, an incidence of one in 4,254 births. Ten infants with secondary-tertiary hypothyroidism were detected in Quebec, Oregon, and Toronto, an incidence of one in 68,200 births. Of all the infants with primary hypothyroidism who were adequately studied, 63% were determined to have aplastic or hypoplastic glands, 14% normal or enlarged glands, and 23% ectopic thyroid tissue. The estimated minimum incidence of infants with TBG deficiency is one in 8,913 births. Only 8 of the 277 detected infants were suspected clinically to have congenital hypothyroidism prior to the time of confirmation of the diagnosis at 4 to 8 weeks of age. The cost of screening varied from $0.70 to $1.60 per infant, depending on which costs were included in the estimate. Preliminary evidence from Quebec suggests that infants treated in the program have normal developmental testing scores at 18 months of age.

Alpha-Globulins↗
PubMed1975

Hepatitis B surface antigen: regional variation in sub-type ratio in the Canadian Red Cross donor population.

A total of 344 sera positive for hepatitis B surface antigen from volunteer blood donors at several Canadian Red Cross centres were subtyped for ad and ay specificity by counterelectrophoresis. Of the 50 sera from Toronto 21 (42%) were ad and 29 (58%) were ay; of the 95 from Montreal 82 (86%) were ad and 13 (14%) were ay; of the 199 from Quebec 179 (90%) were ad and only 20 (10%) were ay. The w and r specificities were also determined in 125 of the samples: 123 were w; the 2 samples of r specificity were from Toronto. On the other hand, among 45 sera from patients with acute hepatitis type B in Quebec 13 (29%) were ad and 33 (71%) ay.

Acute Disease↗
PubMed2025

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.

BACKGROUND: Autosomal dominant spinocerebellar ataxia 27B (SCA27B), caused by an intronic (GAA&#x2022;TTC) repeat expansion in FGF14, is a common cause of late-onset cerebellar ataxia, but its genotypic and phenotypic spectrum remains to be fully established. METHODS: We analysed the FGF14 (GAA&#x2022;TTC) repeat expansion in a cohort of 134 patients with ataxia and 822 controls from Quebec. We conducted segregation study in large families to further characterize intergenerational repeat instability. RESULTS: We found a significant enrichment of (GAA&#x2022;TTC)&#x2265;200 alleles in the ataxia cohort compared to controls (53.0%, 71/134, vs 3.6%, 30/822, p&#x2009;<&#x2009;0.0001), including for (GAA&#x2022;TTC)200-249 alleles (8.2% vs 2.6%, p&#x2009;=&#x2009;0.0026). We identified 12 ataxic patients with a phenotype compatible with SCA27B carrying a (GAA&#x2022;TTC)200-249 expansion supporting the pathogenicity of these alleles in some patients. We further delineated the phenotype of 125 symptomatic individuals from 69 families who carried an FGF14 (GAA&#x2022;TTC)&#x2265;200 repeat expansion. Patients with (GAA&#x2022;TTC)200-249, (GAA&#x2022;TTC)250-299, and (GAA&#x2022;TTC)&#x2265;300 had a similar phenotype. We observed that 14% of patients with episodic symptoms (13/92) had severe episodes that were initially misdiagnosed as stroke, vestibular neuritis, Wernicke's encephalopathy, or seizures. DISCUSSION AND CONCLUSION: This large cohort demonstrates that (GAA&#x2022;TTC)200-249 alleles are enriched in patients with ataxia compared to controls and can be pathogenic for SCA27B, supporting the need to define a lower pathogenic threshold in the presence of specific clinical criteria.

Humans↗
PubMed2025

Influence of antimicrobial consumption (AMC) on the detection of antimicrobial resistance genes (ARGs) in urban wastewater.

BACKGROUND: Antimicrobial resistance (AMR) is a global health threat, causing over 1.27 million deaths annually and linked to an additional 4.95 million. AMR transmission occurs beyond clinical settings, with wastewater serving as a sentinel of community-level spread. This study investigated how temporal changes in antimicrobial consumption (AMC) correlate with the prevalence of antimicrobial resistance genes (ARGs) in wastewater, using wastewater surveillance (WS) to monitor resistance trends in Quebec, Canada. METHODOLOGY: AMC data (January 2019-May 2023) were obtained from the Institut National de Sant&#xe9; Publique du Qu&#xe9;bec (INSPQ) under a license from IQVIA Solutions Canada Inc. Wastewater samples (September 2020-September 2022) were obtained from three WWTPs and screened for 11 ARGs, including blaTEM, blaSHV, blaCTX-M, blaNDM, blaOXA-1/30, qnrA, qnrB, mphE, and mefA. Analyses assessed temporal and spatial associations between AMC and ARGs. RESULTS: Total prescriptions declined from 537 to 392 per 1000 inhabitants between 2019 and 2020 (-27&#xa0;%), likely due to the impact of the COVID-19 pandemic. This shift created a contrast that allowed us to better capture the signal of AMC through the noise in wastewater composition. &#x3b2;-lactams, macrolides, and fluoroquinolones were the most prescribed classes. ARGs were consistently detected in all 41 samples, with macrolide resistance genes being the most abundant. Strong correlations were observed between AMC and ARG prevalence in wastewater, particularly for &#x3b2;-lactams and fluoroquinolones (Spearman R&#xa0;=&#xa0;0.80 and 0.81, p&#xa0;<&#xa0;0.05). Spatial patterns showed uniform AMC but variable ARG levels. CONCLUSIONS: Our study highlights the correlation between AMC and ARG. WS shows promise for real-time AMR monitoring.

Wastewater↗
PubMed2026

Brown bullhead catfish melanoma represents a novel transmissible cancer.

Since 2012, brown bullhead catfish (Ameiurus nebulosus) in a lake that&#xa0;spans Vermont, USA, and Quebec, Canada, have shown a high rate of melanomas, suggesting a causal contaminant or contagion1. We tested the hypothesis that this affliction represents a clonally transmissible cancer, a rare phenomenon in which cancer cells themselves spread between individuals, behaving more like parasites than conventional tumours2. Whole-genome sequencing of tumour and matched non-tumour host tissues revealed that tumour mitochondrial and nuclear genomes are more closely related to each other than to their hosts or unaffected fish. Hundreds of thousands of genetic variants are shared among tumour samples but are&#xa0;absent from host fish, vastly exceeding levels seen in conventional cancers3. These findings indicate that melanoma in these brown bullheads represents the fourth documented type of naturally occurring transmissible cancer in animals, after dogs4, Tasmanian devils5 and several bivalve species6-13. This raises important questions about the cancer's origin, the mode of transmission and the long-term impact on fish populations.

Animals↗
PubMed1979

Canadian survey to determine the rate of drug resistance to isoniazid, PAS and streptomycin in newly detected untreated tuberculosis patients and retreatment cases.

In 1975, a survey was carried out in Canada to determine the primary and acquired drug resistance of M. tuberculosis isolates to isoniazid (INH), para-aminosalicylic acid (PAS) and streptomycin. The results of this investigation were compared with those of the primary drug resistant study of Armstrong, undertaken in 1963-64. It revealed that primary drug resistance has increased from 4.9% to 6.3%. The increase is mainly due to immigrants having arrived in this country during the last 12 years. In these newcomers the primary resistance rate was 11.5%. Moreover, 57.8% of the immigrants examined in the survey were of Asian origin, with a drug resistance rate of 11.7%, while 15.6% had arrived from South Europe with a resistant ratio of 16.7%. In retreatment cases, the national average of drug resistance was 26.4%. Among the Canadian provinces, the highest drug resistance rate in retreatment patients (40%) was found in Quebec. While in primary resistance Streptomycin exhibited the highest incidence, in retreatment cases isoniazid resistance proved to be more frequent. In natives, the rates and patterns of primary and acquired resistance were very similar to those observed in other Canadian born patients.

Aminosalicylic Acid↗
PubMed1976

alpha1-Fetoprotein measurement in blood spotted on paper: discriminating test for hereditary tyrosinemia in neonatal mass screening.

We describe an electroimmunodiffusion technique for measuring alpha1-fetoprotein in blood spotted on chromatography paper. The system is being used as a complementary test in a neonatal mass-screening program for detection of inborn metabolic diseases in the Province of Quebec. In a series of 102 cases of neonatal hypertyrosinemia, the test has proven to be highly discriminative for hereditary tyrosinemia. It has permitted early detection of eight cases of this disease, including two that would have been missed by the previously used screening procedure, tyrosine measurement only. The test not only virtually eliminates the risk of misdiagnosis or missed diagnosis, but also permits earlier diagnosis of hereditary tyrosinemia and considerably reduces the follow-up work required for newborns with transitory tyrosinemia. The AFP test is simple, fast, practical, and inexpensive. Combined with tyrosine determination, it constitutes an optimal device for mass screening of hereditary tyrosinemia.

Amino Acid Metabolism, Inborn Errors↗
PubMed1978

Polystyrene tube immunoradiometric assay for human alpha1-fetoprotein, and its use for mass screening.

We describe a two-site immunoradiometric assay for human alpha1-fetoprotein, with use of antibody-coated polystyrene tubes as solid phase. The sensitivity, precision, and simplicity of this system make it eminently suitable for mass-screening purposes. We currently use it for neonatal detection of hereditary tyrosinemia in the Province of Quebec; measurements are made on blood spotted and dried on paper. This system could be well suited for other mass surveys, such as prenatal screenings for fetal abnormalities.

Amino Acid Metabolism, Inborn Errors↗