RESUMO
Post-zygotic activating mutations in PIK3CA and other genes encoding members of PI3K-AKT-mTOR pathway have been found in various overgrowth syndromes that have been grouped together as PIK3CA-related overgrowth spectrum (PROS). We report a female patient with gait disturbance, leg pain, isolated macrodactyly of the foot, and mild intellectual disability. Imaging of the lower limb showed a lipoblastoma of the right thigh. A mosaic gain-of-function mutation in the catalytic domain of PIK3CA (c.3140 A > G; p.His1047Arg) was detected in the adipose tissue and in skin cultured fibroblasts from the macrodactyly but not in blood. The leg pain and the severe walking disturbance improved slightly over time and serial MRI of the lower limbs suggested that the size of the lipoblastoma relative to the lower limb muscles or to the whole lower limb was unchanged as consequence of limb growth. This case report illustrates that pain and gait disturbance can be features of PROS and highlights the need of better knowledge about the natural history of the disease.
Assuntos
Classe I de Fosfatidilinositol 3-Quinases/genética , Dedos/anormalidades , Marcha , Deficiência Intelectual/genética , Deformidades Congênitas dos Membros/genética , Lipoblastoma/genética , Extremidade Inferior/patologia , Células Cultivadas , Pré-Escolar , Classe I de Fosfatidilinositol 3-Quinases/metabolismo , Feminino , Fibroblastos/metabolismo , Mutação com Ganho de Função , Humanos , Deficiência Intelectual/diagnóstico , Deformidades Congênitas dos Membros/diagnóstico , Lipoblastoma/diagnóstico , Extremidade Inferior/diagnóstico por imagem , SíndromeRESUMO
INTRODUCTION: To evaluate if advanced neuroimaging research is mainly conducted by imaging specialists, we investigated the number of first authorships by radiologists and non-radiologist scientists in articles published in the field of advanced neuroimaging in the past 10 years. METHODS: Articles in the field of advanced neuroimaging identified in this retrospective bibliometric analysis were divided in four groups, depending on the imaging technique used. For all included studies, educational background of the first authors was recorded (based on available online curriculum vitae) and classified in subgroups, depending on their specialty. Finally, journal impact factors were recorded and comparatively assessed among subgroups as a metric of research quality. RESULTS: A total number of 3831 articles were included in the study. Radiologists accounted as first authors for only 12.8 % of these publications, while 56.9 % of first authors were researchers without a medical degree. Mean impact factor (IF) of journals with non-MD researchers as first authors was significantly higher than the MD subgroup (p < 10-20), while mean IF of journals with radiologists as first authors was significantly lower than articles authored by other MD specialists (p < 10-11). CONCLUSIONS: The majority of the studies in the field of advanced neuroimaging in the last decade is conducted by professional figures other than radiologists, who account for less than the 13 % of the publications. Furthermore, the mean IF value of radiologists-authored articles was the lowest among all subgroups. These results, taken together, should question the radiology community about its future role in the development of advanced neuroimaging.
