Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

peer reviewedMany countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS. © 2021 The Author

Cytotoxic activity, acute and sub-acute toxicity of root extracts of Corrigiola Telephiifolia Pourr

International audienceC. telephiifolia is an herbal plant commonly used in Moroccan folk medicine for treatment of many disorders. In the present study, we investigated cytotoxic activity by an in vitro assay system of growth inhibition against a human cancer cell line (HeLa), the results demonstrated that CH2Cl2 extract show a moderate cytotoxicity. The acute and sub-acute toxicity of the methanolic extract was evaluated. For acute toxicity, a single oral administration was performed at a dose of 2g/kg body weight (6 females, 6 males mice). The study of sub-acute toxicity was evaluated by daily oral (5 females, 5 males) with doses from 10 to 500mg/kg/day for 45 days. No mortality or signs of toxicity were observed in the acute study. Mice were analyzed for final body and organ weights, necropsy, and blood chemical and histopathological parameters. In the 40 day study in mice the extract at 10, 50mg/kg/day showed no toxicity, mortality, macroscopic or microscopic change of internal organs or tissues in comparison with the control group. The extracts of C. telephiifolia showed a cytotoxic activity with low toxicity. They are good candidates for further investigations in the fields of new anticancer drugs discovery.Top of Pag

Management of X-linked adrenoleukodystrophy in Morocco: actual situation

Abstract Objectives X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy and childhood cerebral Adrenoleukodystrophy are the most common phenotypes. This paper focuses on a descriptive study of the first program of diagnosis, treatment, and follow-up of this disease in Morocco. Results We developed three protocols of X-linked Adrenoleukodystrophy management: general protocol, asymptomatic protocol, and heterozygous protocol. Over a period of 5 years, we recruited eight families with 16 patients. Clinically, the presentation is primary adrenal insufficiency and behavioral changes. All patients had elevated levels of very long fatty acids. This is the first study of X-linked adrenoleukodystrophy in Morocco. It shows the importance of this metabolic disease and broadens perspectives in terms of its diagnosis and its treatment

Cytotoxic activity, acute and sub-acute toxicity of methanolic root extract of Corrigiola telephiifolia pourr

International audienc

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.

Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS