Browsing by Issue Date, starting with "2022-10-20"
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- Transplant Open Registry InitiativePublication . Lima, Bruno; Henriques, Teresa; Reis, Filipe; Alves, HelenaHealth data science aims to extract knowledge from data allowing better decision-making, using multidisciplinary approaches from fields such as computation, statistics, epidemiology, and several medical knowledge domains. We live in the ‘big data’ era, with a growing availability of health data, in volume, variety, and velocity, also for tasks such as kidney transplantation. Hereby, secondary use of this health data must be encouraged to improve patient care planning, disease research, and policymaking around transplantation. This article presents the Transplant Open Registry (TxOR) website where some health data science applications on kidney transplantation are available. With it, we try to answer, some of the remaining questions on kidney transplantation in Portugal, with a new approach.
- Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentationPublication . Ivo, Catarina Rodrigues; Fitas, Ana Laura; Madureira, Inês; Diamantino, Catarina; Gomes, Susana; Gonçalves, João; Lopes, LurdesObjectives: Congenital Adrenal Hyperplasia (CAH) is a group of genetic diseases characterized by impaired cortisol biosynthesis. 95% of CAH cases result from muta tion in the CYP21A2 gene encoding 21-hydroxilase. TNX-B gene partially overlaps CYP21A2 and encodes a matrix protein called Tenascin-X (TNX). Complete tenascin defi ciency causes Enlers-Danlos syndrome (EDS). A mono allelic variant called CAH-X CH-1 was recently described, resulting from a CYP21A2 complete deletion that extends into the TNXB. This haploinsufficiency of TNX may be associated with a mild hypermobility form of EDS, as well as other connective tissue comorbidities such as hernia, cardiac defects and chronic arthralgia. Case presentation: We report four patients heterozygous for a CAH-X CH-1 allele that do not present clinical mani festations of the EDS. Conclusions: All CAH patients, carriers of these TNXA/ TNXB chimeras, should be evaluated for clinical manifes tations related to connective tissue hypermobility, cardiac abnormalities and other EDS features, allowing for better clinical surveillance management
- Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early DetectionPublication . Lipari Pinto, Patrícia; Florindo, Cristina; Janeiro, Patrícia; Santos, Rita Loureiro; Mexia, Sandra; Rocha, Hugo; Tavares de Almeida, Isabel; Vilarinho, Laura; Gaspar, AnaThe early diagnosis of and intervention in vitamin B12 deficiency in exclusively breastfed infants by mothers with low vitamin B12 is crucial in preventing possible irreversible neurologic damage, megaloblastic anemia, and failure to thrive. We assess the usefulness of the early detection of asymptomatic B12 deficiency related to acquired conditions and highlight the importance of monitoring serum vitamin B12 levels during pregnancy. We describe demographic, clinical, dietary, and biochemical data, including the evolution of a vitamin B12 deficiency's functional biomarkers. We enrolled 12 newborns (5 males) with an age range of 1-2 months old that were exclusively breastfed and asymptomatic. These cases were referred to our metabolic unit due to alterations in expanded newborn screening: high levels of methylmalonic acid and/or total homocysteine (tHcy). All mothers were under a vegetarian diet except three who had abnormal B12 absorption, and all presented low or borderline serum B12 level and high plasma levels of tHcy. Supplementation with oral vitB12 re-established the metabolic homeostasis of the mothers. In infants, therapy with an intramuscular injection of 1.0 mg hydroxocobalamin led to the rapid normalization of the metabolic pattern, and a healthy outcome was observed. Acquired B12 deficiency should be ruled out before proceeding in a differential diagnosis of cobalamin metabolism deficits, methylmalonic acidemia, and homocystinuria.