Browsing by Issue Date, starting with "2021-01"
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- SLC35A2-CDG: Novel variant and reviewPublication . Quelhas, D; Correia, Joana; Jaeken, Jaak; Azevedo, Luísa; Lopes-Marques, Mónica; Bandeira, Anabela; Keldermans, Liesbeth; Matthijs, Gert; Sturiale, Luisa; Martins, EsmeraldaSLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosylation (CDG) with epileptic encephalopathy as a predominant feature. Among the sixty five patients described so far, a strong gender bias is observed as only seven patients are males. This work is a review and reports a SLC35A2-CDG in a male without epilepsy and with growth deficiency associated with decreased serum IGF1, minor neurological involvement, minor facial dysmorphism, and camptodactyly of fingers and toes. Sequence analysis revealed a hemizygosity for a novel de novo variant: c.233A > G (p.Lys78Arg) in SLC35A2. Further analysis of SLC35A2 sequence by comparing both orthologous and paralogous positions, revealed that not only the variant found in this study, but also most of the reported mutated positions are conserved in SLC35A2 orthologous, and many even in the paralogous SLC35A1 and SLC35A3. This is strong evidence that replacements at these positions will have a critical pathological effect and may also explain the gender bias observed among SLC35A2-CDG patients.
- Microperimetry as Part of Multimodal Assessment to Evaluate and Monitor Myopic Traction MaculopathyPublication . Baptista, Pedro Manuel; Silva, Nisa; Coelho, João; José, Diana; Almeida, Daniel; Meireles, AngelinaPurpose: To characterize a population of high myopes with myopic traction maculopathy (MTM), to assess their retinal function, and to correlate it with anatomic status. Patients and methods: This was an observational cross-sectional study including 50 eyes from 27 patients. Demographic and clinical data were analyzed. Macular structure was assessed with spectral domain optical coherence tomography (SD-OCT, Heidelberg®) and macular function was studied with Microperimeter MP-3, NIDEK®. Results: The average for central foveal thickness (CFT) and choroid thickness (CT) was 213±151 μm and 36±23 μm, respectively, in a total of 50 eyes from 27 patients. In the microperimetry analysis, the average sensitivity on the foveal-centered 12º polygon (CPS) was 14.37±9.1 dB. CT was negatively associated with the bivariate contour ellipse areas (BCEA) 1 (r=-0.314; p=0.034), 2 (r=-0.314; p=0.034), and 3 (r=-0.316; p=0.033). CPS had a strong positive correlation with best-corrected visual acuity (BCVA) (r=0.661; p=0.000). We found a trend to worse microperimetric results in eyes with schisis (n=19) (p>0.05) but eyes with atrophic areas (n=33) presented significant inferior CPS (p<0.001). The presence of staphyloma showed significant impact on macular sensitivities in eyes with areas of macular atrophy/fibrosis (p<0.05). Conclusion: Macular microperimetry analysis can have a role as part of a multimodal anatomo-functional assessment for a more precise characterization of the high myopic patients with MTM, optimizing medical and surgical decisions.
- Impact of COVID-19 pandemic and national lockdown in an orthopaedic and traumatology department—a comparison with the homologous period of 2019Publication . Ribau, Ana; Vale, João; Xará-Leite, Francisco; Rodrigues-Pinto, RicardoBackground: The coronavirus disease-2019 pandemic has forced health systems to undergo dynamic changes. This study aims to evaluate the impact of the pre-lockdown and of the lockdown period on the surgical activity of a Portuguese Orthopaedic and Traumatology Department and to compare it with the homologous period of 2019. Methods: The surgical activity between March 2 and May 2, 2020 and that of the homologous period of 2019 were analyzed and compared. Additionally, the impact of national and institutional measures was analyzed. Results: There was a decrease in elective surgeries, from 587 to 100. In 2020, 59.3% of all surgeries were urgent and 48.4% were trauma whereas in 2019 there were 25.5% urgent and 23.0% trauma surgeries (P < .001 and P < .001, respectively). There was no difference in the mean of proximal hip fractures operated per week (P = .310), even when analyzing only the lockdown period (P = .102). However, proximal hip fractures corresponded to significantly higher proportion of surgeries in 2020 (P = .04). Hand and tendon injuries significantly reduced in 2020, as were sports-related trauma surgeries. Mean number of days until surgery was significantly lower in 2020 (2020:1.6 ± 2.1, 2019: 2.2 ± 2.5, P = .012). Conclusion: Governmental and institutional measures had high impact on the production and on the epidemiology of trauma. While resumption of elective surgery is needed, lessons from these measures may help in the response to a possible second wave.
- Spanish and Portuguese Societies of Internal Medicine consensus guideline about best practice in end-of-life carePublication . Díez-Manglano, J.; Sánchez Muñoz, L.Á.; García Fenoll, R.; Freire, Elga; Isasi de Isasmendi Pérez, S.; Carneiro, A.H.; Torres Bonafonte, O.Aim: To develop consensus recommendations about good clinical practice rules for caring end-of-life patients. Methods: A steering committee of 12 Spanish and Portuguese experts proposed 37 recommendations. A two rounds Delphi method was performed, with participation of 105 panelists including internists, other clinicians, nurses, patients, lawyers, bioethicians, health managers, politicians and journalists. We sent a questionnaire with 5 Likert-type answers for each recommendation. Strong consensus was defined when >95% answers were completely agree or >90% were agree or completely agree; and weak consensus when >90% answers were completely agree or >80% were agree or completely agree. Results: The panel addressed 7 specific areas for 37 recommendations spanning: identification of patients; knowledge of the disease, values and preferences of the patient; information; patient's needs; support and care; palliative sedation, and after death care. Conclusions: The panel formulated and provided the rationale for recommendations on good clinical practice rules for caring end-of-life patients.
- Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental DisorderPublication . Bain, Jennifer M.; Thornburg, Olivia; Pan, Cheryl; Rome-Martin, Donnielle; Boyle, Lia; Fan, Xiao; Devinsky, Orrin; Frye, Richard; Hamp, Silke; Keator, Cynthia G.; LaMarca, Nicole M.; Maddocks, Alexis B.R.; Madruga-Garrido, Marcos; Niederhoffer, Karen Y.; Novara, Francesca; Peron, Angela; Poole-Di Salvo, Elizabeth; Salazar, Rachel; Skinner, Steven A.; Soares, Gabriela; Goldman, Sylvie; Chung, Wendy K.Objective: To expand the clinical phenotype of the X-linked HNRNPH2-related neurodevelopmental disorder in 33 individuals. Methods: Participants were diagnosed with pathogenic or likely pathogenic variants in HNRNPH2 using American College of Medical Genetics and Genomics/Association of Molecular Pathology criteria, largely identified via clinical exome sequencing. Genetic reports were reviewed. Clinical data were collected by retrospective chart review and caregiver report including standardized parent report measures. Results: We expand our clinical characterization of HNRNPH2-related disorders to include 33 individuals, aged 2-38 years, both females and males, with 11 different de novo missense variants, most within the nuclear localization signal. The major features of the phenotype include developmental delay/intellectual disability, severe language impairment, motor problems, growth, and musculoskeletal disturbances. Minor features include dysmorphic features, epilepsy, neuropsychiatric diagnoses such as autism spectrum disorder, and cortical visual impairment. Although rare, we report early stroke and premature death with this condition. Conclusions: The spectrum of X-linked HNRNPH2-related disorders continues to expand as the allelic spectrum and identification of affected males increases.