Case report: A novel COL3A1 variant in a Colombian patient with isolated cerebrovascular involvement in vascular Ehlers-Danlos syndrome.

Introduction: To date, approximately 600 unique pathogenic variants have been reported in COL3A1 associated with vascular Ehlers-Danlos syndrome (vEDS). The objective of this study was to describe a patient with a novel variant in COL3A1 associated with vEDS. Case report: We describe the clinical history and thorough phenotyping of a patient with brain aneurysms and identified a novel pathogenic variant in COL3A1. This male patient reported transient focal neurologic symptoms. Physical examination showed abnormal atrophic scarring, horizontal stretch marks under the arms, and an acrogeric appearance of the skin of the hands and feet. Brain imaging revealed extensive dilation of both internal carotids and the vertebrobasilar system. Molecular analysis identified a variant in COL3A1 (NM_000090.4):c.3058G>T p.(Gly1020Cys), which was classified as likely pathogenic. Currently, the patient has never had an event concerning dissection/rupture of tissues that could be affected in this condition. Conclusion: This report demonstrates that exhaustive evaluation with clinical and genetic approaches should be considered in patients with vascular abnormalities. vEDS has a variable clinical presentation and often goes unrecognized, even though it is related to life-threatening complications and a shortened life expectancy. Diagnosis confirmed by genetic testing is crucial to determining appropriate surveillance, prevention, treatment, and genetic counseling.

Saturdays-in-Motion: Education and Empowerment through an Interdisciplinary Team Approach for Parkinson's Disease in Cali-Colombia.

INTRODUCTION: Parkinson's disease (PD) is one of the most prevalent age-related neurodegenerative disorders. The progression of PD produces an important disease burden in patients due to functional impairment, which also has repercussions on caregivers. In addition, it has become a challenge for health systems, especially in developing countries, which have limited resources. Multidisciplinary teams with a community approach have proved effective in high-income countries; however, there is no reported literature in low- and middle-income countries about this kind of initiative. OBJECTIVE: This paper aims to document the experience of patients, caregivers, and experts in a community approach as an innovative model in a middle-income country. METHODS: A quantitative descriptive research was conducted. The selection criteria were having a PD diagnosis, attending with a caregiver to Saturdays in Motion (SIM), or being a clinical expert invited to SIM. PD patients and their caregivers answered three surveys on their points of view with respect to SIM: SIM and their quality of life (QoL) and PDQ-39 and Zarit, whereas clinical experts completed two questions related to the SIM program. Descriptive statistics were used to summarize the results of the surveys and clinical tests. RESULTS: Forty-eight, twenty-four, and twenty-one subjects answered surveys one, two, and three, respectively. In total, four clinical experts were interviewed. 87.9% of the patients consider that SIM activities improved their QoL. The most affected areas in PDQ-39 were those related to the social area. Around 66.6% of the caregivers reported a mild burden on Zarit and think that SIM enhances the PD patient's QoL. Clinical experts highlighted the sense of community and empathy. CONCLUSION: Our preliminary experience shows a multidisciplinary model with a community approach which redefines the traditional relationship between patients, caregivers, and clinical experts. This aim of this initiative is that education and empowerment patients and caregivers reach a better perception of QoL.

Secuencia de Poland, de las bases embriológicas a la práctica clínica / Poland sequence, going from the embryological bases to the clinical practice

La secuencia de Poland es un defecto congénito típicamente descrito como la ausencia congénita unilateral del músculo pectoral, que puede encontrarse asociado a la aparición de otras anomalías torácicas ipsilaterales y/o de extremidades superiores, las cuales abarcan diferentes grados de severidad funcional y de alteraciones estéticas. En la literatura se describen distintas asociaciones con diferentes síndromes, sin embargo su etiología es aún desconocida, aunque existen varias hipótesis sobre su posible causa, y es la más aceptada aquella que hace referencia a procesos de disrupción vascular. En la práctica clínica, las formas de expresión leve pueden ser ignoradas, pero en los casos más severos es requerida la atención de grupos multidisciplinarios de especialistas para su tratamiento. Se hace una revisión sistemática de la literatura sobre la secuencia de Poland.

Poland sequence is a birth defect typically described as unilateral congenital absence of the pectoralis muscle, which may be associated with the occurrence of other ipsilateral thoracic and/or upper extremities anomalies that cover different degrees of functional severity and esthetic alterations. The literature describes various types of association with different syndromes; however, its etiology remains unknown and several hypotheses about the possible cause of this disease exist, being the most accepted the one that deals with vascular disruption processes. In the clinical practice, mild forms of expression can be ignored, but in the most severe cases, the attention of a multidisciplinary group of specialists is required for disease management. A systematic literature review on Poland sequence was made.