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Continuous Glucose Monitoring Use and Glucose Variability in Very Young Children with Type 1 Diabetes (VibRate) A Multinational Prospective Observational Real-World Cohort Study.
No full textinfo:eu-repo/semantics/publishedVersio
Clinical, Molecular Characterization and Long-Term Follow-Up of a Patient with Neonatal Severe Hyperparathyroidism
No full textHeterozygous inactivating pathogenic variants of the calcium-sensing receptor encoding gene
cause autosomal dominant familial hypocalciuric hypercalcemia, whereas mutations that inactivate both
alleles cause neonatal severe hyperparathyroidism, a rare and potentially fatal disease. We present the clinical
and genetic characterization of a Portuguese family with familial hypocalciuric hypercalcemia/neonatal severe
hyperparathyroidism as well as the long-term follow-up of the proband. The newborn was admitted due to
progressive hypotonia, feeding refusal, and dehydration. Serum calcium and parathormone levels were markedly increased. Radiological evaluation revealed osteopenia and several fractures. Total parathyroidectomy with the reimplantation of a quarter of one gland was performed. At 15 years old, she is clinically well, has normal calcium levels, and detectable parathormone values while under calcium and α-calcidiol treatment. Calcium-sensing receptor encoding gene sequencing revealed a germline homozygous nonsense pathogenic variant later confirmed as inherited.info:eu-repo/semantics/publishedVersio
Central Diabetes Insipidus Following Immunization With BNT162b2 mRNA COVID-19 Vaccine: a Case Report
No full textIntroduction: Cases of central diabetes insipidus (CDI) have been reported after COVID-19 infection, with hypophysitis being the most likely cause. COVID-19 vaccines potential adverse effects may mimetize some of these complications.
Case report: Woman 37 years old, with rheumatoid arthritis under adalimumab (40 mg twice a month) since December 2018. She was in her usual state of health when she has received the second dose of BNT162b2 mRNA COVID-19 vaccine (June 2021). Seven days later, she started reporting intense thirst and polyuria and consulted her family physician.
Blood analysis: creatinine 0.7 mg/dL, glucose 95mg/dL, Na+ 141mEq/L, K+ 3.9 mEq/L, TSH 3.8 mcUI/L (0.38-5.33), FT4 0.9 ng/dL (0.6-1.1), cortisol 215.4 nmol/L (185-624), ACTH 21.9 pg/mL (6- 48), FSH 4.76 UI/L, LH5.62 UI/L, estradiol 323 pmol/L, IGF1 74.8 ng/mL (88-209), PRL 24.7mcg/L (3.3-26.7) osmolality 298.2 mOs/Kg (250- 325); Urine analysis: volume 10200 mL/24h, osmolality 75 mOs/Kg (300-900), density 1.002. On water restriction test: 0' - Serum osmolality 308.8mOsm/Kg vs. urine osmolality 61.0 mOsm/Kg; 60' - urine osmolality 102 mOsm/Kg; urine osmolality 1 h after desmopressine was 511mOsm/kg. MRI revealed no abnormal signs consistent with hypophysitis except for the loss of the posterior pituitary bright spot on T1 weighted imaging. Diagnosis of CDI was assumed, and started therapy with desmopressine. A report of potential adverse effect was addressed to national health authorities.
Conclusion: In hypophysitis MRI often shows loss of posterior pituitary bright spot on T1 weighted imaging, pituitary enlargement or stalk thickening but those findings were not present in this patient. To the best of our knowledge, CDI has never been reported following administration of a COVID-19 vaccine.info:eu-repo/semantics/publishedVersio
O Valor Prognóstico do Ponto Ótimo Cardiorrespiratório após Prova de Esforço Cardiorrespiratória Submáxima na Insuficiência Cardíaca
No full textIntroduction: Peak oxygen consumption (pVO2) is a key parameter for assessing the prognosis of heart failure with reduced ejection fraction (HFrEF). However, it is less reliable when the cardiopulmonary exercise test (CPET) is not maximal.
Objective: To compare the prognostic power of various exercise parameters in submaximal CPET.
Methods: Adult patients with HFrEF undergoing CPET in a tertiary center were prospectively assessed. Submaximal CPET was defined as a respiratory exchange ratio ≤1.10. Patients were followed for one year for the primary endpoint of cardiac death and urgent heart transplantation (HT). Various CPET parameters were analyzed as potential predictors of the combined endpoint and their prognostic power (area under the curve [AUC]) was compared using the Hanley-McNeil test.
Results: CPET was performed in 442 HFrEF patients (mean age 56±12 years, 80% male), of whom 290 (66%) had a submaximal CPET. Seventeen patients (6%) reached the primary endpoint. The cardiorespiratory optimal point (COP) had the highest AUC value (0.989, p<0.001), and significantly higher prognostic power than other tested parameters, with pVO2 presenting an AUC of 0.753 (p=0.001). COP ≥36 had significantly lower survival free of HT during follow-up (p<0.001) and presented a sensitivity of 100% and a specificity of 89% for the primary endpoint.
Conclusion: COP had the highest prognostic power of all parameters analyzed in a submaximal CPET. This parameter can help stratify HFrEF patients who are physiologically unable to reach a maximal level of exercise.info:eu-repo/semantics/publishedVersio
Is Bilateral Hallux Valgus Chevron Osteotomy a Safe Procedure for Ambulatory Surgery?
No full textIntroduction: Several osteotomies of the first metatarsal have been described for treatment of hallux valgus but chevron osteotomy is one of the most common and well-established procedure for treating this deformity. Although there is a trend towards considering bilateral surgery there is lack of publications addressing bilateral treatment in ambulatory units. The aim of this study is to analyze results of bilateral and unilateral distal chevron osteotomies associated with lateral soft tissue release as ambulatory procedures.
Materials and methods: A retrospective review was made about the patients treated at our ambulatory unit over a period of five years. Initially, general information as patient's satisfaction's rate and return to normal activity's time and evaluation of standardized follow-up charts and records made by the surgeon were recorded. Secondly, the hallux metatarsophalangeal interphalangeal scale developed by the American Orthopedic Foot & Ankle Society was used.
Results: A total of 194 patients with 230 feet operated were included in this study. We found 29 patients that didn't meet the inclusion criteria and were excluded. The unilateral group was composed by 139 feet and the bilateral group by 52 feet. The improvement between preoperative and discharge clinical and radiographic results was significant independently in both groups. A total of 14% of complications were found in our study, 19% in the unilateral group and 12% at the bilateral group. None of them required revision surgery.
Conclusion: Bilateral distal chevron osteotomies, associated with lateral soft tissue release, are safe and effective ambulatory procedures. It was found a satisfactory deformity correction in moderate HV. Both patients that underwent unilateral and bilateral procedures had similar clinical and radiological outcomes with no increase in complications or return to normal activity time. With this study it was demonstrated that bilateral chevron osteotomies can be performed as ambulatory procedures.info:eu-repo/semantics/publishedVersio
HIV-1-Transmitted Drug Resistance and Transmission Clusters in Newly Diagnosed Patients in Portugal Between 2014 and 2019
No full textObjective: To describe and analyze transmitted drug resistance (TDR) between 2014 and 2019 in newly infected patients with HIV-1 in Portugal and to characterize its transmission networks.
Methods: Clinical, socioepidemiological, and risk behavior data were collected from 820 newly diagnosed patients in Portugal between September 2014 and December 2019. The sequences obtained from drug resistance testing were used for subtyping, TDR determination, and transmission cluster (TC) analyses.
Results: In Portugal, the overall prevalence of TDR between 2014 and 2019 was 11.0%. TDR presented a decreasing trend from 16.7% in 2014 to 9.2% in 2016 (p for-trend = 0.114). Multivariate analysis indicated that TDR was significantly associated with transmission route (MSM presented a lower probability of presenting TDR when compared to heterosexual contact) and with subtype (subtype C presented significantly more TDR when compared to subtype B). TC analysis corroborated that the heterosexual risk group presented a higher proportion of TDR in TCs when compared to MSMs. Among subtype A1, TDR reached 16.6% in heterosexuals, followed by 14.2% in patients infected with subtype B and 9.4% in patients infected with subtype G.
Conclusion: Our molecular epidemiology approach indicates that the HIV-1 epidemic in Portugal is changing among risk group populations, with heterosexuals showing increasing levels of HIV-1 transmission and TDR. Prevention measures for this subpopulation should be reinforced.info:eu-repo/semantics/publishedVersio
Immune and Spermatogenesis-Related Loci are Involved in the Development of Extreme Patterns of Male Infertility
No full textWe conducted a genome-wide association study in a large population of infertile men due to unexplained spermatogenic failure (SPGF). More than seven million genetic variants were analysed in 1,274 SPGF cases and 1,951 unaffected controls from two independent European cohorts. Two genomic regions were associated with the most severe histological pattern of SPGF, defined by Sertoli cell-only (SCO) phenotype, namely the MHC class II gene HLA-DRB1 (rs1136759, P = 1.32E-08, OR = 1.80) and an upstream locus of VRK1 (rs115054029, P = 4.24E-08, OR = 3.14), which encodes a protein kinase involved in the regulation of spermatogenesis. The SCO-associated rs1136759 allele (G) determines a serine in the position 13 of the HLA-DRβ1 molecule located in the antigen-binding pocket. Overall, our data support the notion of unexplained SPGF as a complex trait influenced by common variation in the genome, with the SCO phenotype likely representing an immune-mediated condition.info:eu-repo/semantics/publishedVersio
Non-Vitamin K Oral Anticoagulants Assessment in High Risk of Bleeding Patients with Non-Valvular Atrial Fibrillation
No full textAtrial fibrillation (AF) is commonly associated with advanced age and the presence of multiple, concomitant acute and chronic health conditions, placing this population at high risk for serious therapeutic side effects. Nonvitamin K antagonist oral anticoagulants (NOACs) are increasingly used for stroke prevention in patients with atrial fibrillation. The purpose of this study was to investigate the effectiveness and safety of NOAC in a group at high risk of bleeding complications, in a real-world setting. We conducted a retrospective analysis of a high-risk cohort of 418 patients (pts) followed-up in our anticoagulation unit; data on patient characteristics, anticoagulation treatment, and bleeding and thrombotic complications were evaluated. The population had a median age of 77.8 ± 10.3 years and the mean CHA2DS2-VASc score was 3.85 (SD ± 1.4). Overall, 289 (69.1%) were ≥75 years old. During a mean follow-up time of 51.2 ± 35.7 months, we observed a rate of any bleeding of 7, a clinically relevant non-major bleeding rate of 4.8, a major bleeding rate of 2.2, a stroke rate of 1.6, and a rate of thrombotic events of 0.28 per 100 patient-years. There were 59 hospitalizations due to any cause (14.1%) and 36 (8.6%) deaths (one due to ischemic stroke). A structured follow-up, with judicious prescribing and drug compliance, may contribute to preventing potential complicationsinfo:eu-repo/semantics/publishedVersio
Myocardial Work Brings New Insights into Left Ventricular Remodelling in Cardio-Oncology Patients
No full textSerial transthoracic echocardiographic (TTE) assessment of 2D left ventricular ejection fraction (LVEF) and global longitudinal strain (GLS) are the gold standard screening methods for cancer therapeutics-related cardiac dysfunction (CTRCD). Non-invasive left ventricular (LV) pressure-strain loop (PSL) provides a novel method of quantifying myocardial work (MW) with potential advantages to evaluate the impact of cardiotoxic treatments on heart function. We prospectively assessed breast cancer female patients undergoing cancer therapy through serial monitoring by 2D and 3D TTE. Patients were evaluated at T0, T1 and T2 (before, 4-6 and 12-14 months after starting therapy, respectively). Through PSL analysis, MW indices were calculated. A total of 122 patients, with a mean age of 54.7 years, who received treatment with anthracyclines (77.0%) and anti-HER2 (75.4%) were included. During a mean follow-up of 14.9 ± 9.3 months, LVEF and GLS were significantly diminished, and 29.5% developed CTRCD. All MW indices were significantly reduced at T1 compared with baseline and tended to return to baseline values at T2. Global work index and global work efficiency showed a more pronounced variation in patients with CTRCD. The presence of more than one cardiovascular risk factor, obesity and baseline left atrium volume were predictors of changes in MW parameters. In conclusion, breast cancer treatment was associated with LV systolic dysfunction as assessed by MW, with its peak at 4-6 months and a partial recovery afterwards. Assessment of myocardial deformation parameters allows a more detailed characterization of cardiac remodelling and could enhance patient screening and selection for cardioprotective therapeutics.info:eu-repo/semantics/publishedVersio
Calcium and Phosphate Parenteral Intake for Preterm Infants: Which is the Better Practice?
No full textoai:repositorio.chlc.pt:10400.17/4106info:eu-repo/semantics/publishedVersio