Samantha Sáenz
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View article: Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care
Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care Open
Background Delays in diagnosing rare genetic disorders often arise due to limited awareness and systemic challenges in primary care. This case highlights the importance of a holistic approach to patient care, encompassing timely detection …
View article: AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings
AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings Open
Epilepsy, characterized by recurrent seizures, impacts 70–80% of patients, leading to cognitive deficits. The intricate relationship between seizure control and cognitive impairment remains complex. Epileptic encephalopathy (EE), an intens…
View article: TRAINING FOR CAREGIVER OF OLDER ADULTS IN ECUADOR: REPORT ON PRESENTIAL, DISTANCE, AND HYBRID MODALITIES
TRAINING FOR CAREGIVER OF OLDER ADULTS IN ECUADOR: REPORT ON PRESENTIAL, DISTANCE, AND HYBRID MODALITIES Open
Caregiving for older adults in Ecuador is provided by family members, professional caregivers as well as untrained domestic workers. All three groups lack access to theoretical and technical training. The accelerating care drain towards Eu…
View article: The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review
The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review Open
Background The diagnostic process for uncommon disorders with similar manifestations is complicated and requires newer technology, like gene sequencing for a correct diagnosis. Main body We described two brothers clinically diagnosed with …
View article: A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)
A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14) Open
A 1-year-old baby with phylloid-type pigmentary mosaicism, hypotonia, ambiguous genitalia, and a positive screening test for congenital adrenal hyperplasia was referred. Previous sonograph, cytogenetics, and metabolic profile were inconclu…