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Four-year follow-up study in a NF1 boy with a focal pontine hamartoma.

ABSTRACT: Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically between individuals, even within the same family. Some people have very mild skin changes, whereas others suffer severe medical complications. The condition usually appears in childhood and is diagnosed if two of the following are present: six or more café-au-lait patches larger than 1.5 cm in diameter, axillary or groin freckling, 2 or more Lisch nodules (small pigmented areas in the iris of the eye), 2 or more neurofibromas, optic pathway gliomas, bone dysplasia, and a first-degree family relative with Neurofibromatosis type 1. The pattern of inheritance is autosomal dominant, however, half of all NF1 cases are 'sporadic' and there is no family history. Neurofibromatosis type 1 is an extremely variable condition whose morbidity and mortality is largely dictated by the occurrence of the many complications that may involve any of the body systems. We describe a family affected by NF1 in whom genetic molecular analysis identified the same mutation in the son and father. Routine MRI showed pontine focal lesions in the eight-year-old son, though not in the father. We performed a four years follow-up study and at follow-up pontine hamartoma size remained unchanged in the son, and the father showed still no brain lesions, confirming thus an intra-familial phenotype variability.

SUBMITTER: Parisi P

PROVIDER: S-EPMC3579694 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Four-year follow-up study in a NF1 boy with a focal pontine hamartoma.

Parisi Pasquale P Persechino Severino S Paolino Maria Chiara MC Nicita Francesco F Torrente Isabella I Bozzao Alessandro A Villa Maria Pia MP

Italian journal of pediatrics 20130211

Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically between individuals, even within the same family. Some people have very mild skin changes, whereas others suffer severe medical complications. The condition usually appears in childhood and is diagnosed if two of the following are present: six or more café-au-lait patches ...[more]

PMID: 23399325

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Project description:BackgroundConsumer-oriented mobile self-diagnosis apps have been developed using undisclosed algorithms, presumably based on machine learning and other artificial intelligence (AI) technologies. The US Food and Drug Administration now discerns apps with learning AI algorithms from those with stable ones and treats the former as medical devices. To the author's knowledge, no self-diagnosis app testing has been performed in the field of ophthalmology so far.ObjectiveThe objective of this study was to test apps that were previously mentioned in the scientific literature on a set of diagnoses in a deliberate time interval, comparing the results and looking for differences that hint at "nonlocked" learning algorithms.MethodsFour apps from the literature were chosen (Ada, Babylon, Buoy, and Your.MD). A set of three ophthalmology diagnoses (glaucoma, retinal tear, dry eye syndrome) representing three levels of urgency was used to simultaneously test the apps' diagnostic efficiency and treatment recommendations in this specialty. Two years was the chosen time interval between the tests (2018 and 2020). Scores were awarded by one evaluating physician using a defined scheme.ResultsTwo apps (Ada and Your.MD) received significantly higher scores than the other two. All apps either worsened in their results between 2018 and 2020 or remained unchanged at a low level. The variation in the results over time indicates "nonlocked" learning algorithms using AI technologies. None of the apps provided correct diagnoses and treatment recommendations for all three diagnoses in 2020. Two apps (Babylon and Your.MD) asked significantly fewer questions than the other two (P<.001).Conclusions"Nonlocked" algorithms are used by self-diagnosis apps. The diagnostic efficiency of the tested apps seems to worsen over time, with some apps being more capable than others. Systematic studies on a wider scale are necessary for health care providers and patients to correctly assess the safety and efficacy of such apps and for correct classification by health care regulating authorities.

Dataset Information

Four-year follow-up study in a NF1 boy with a focal pontine hamartoma.

Publications

Four-year follow-up study in a NF1 boy with a focal pontine hamartoma.

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