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Objectives/Background: Vitamin D-binding protein (VDBP) and free vitamin D are new markers that are being studied as a possible markers of vitamin D status. The main aim of our study was to analyze the VDBP genotype and quantify the levels of free vitamin D in a sample of cystic fibrosis (CF) patients. Methods: We conducted a multicenter, cross-sectional, and prospective study including patients with CF and exocrine pancreatic insufficiency who were clinically stable. We investigated vitamin D levels (total and free) and the different VDBP haplotypes. Free vitamin D levels were measured using an electro-chemiluminescence assay. Results: A sample of 48 patients was obtained (52% male; median age 13.8 years). The most common allele of VDBP was Gc1s (72%) > Gc2 (52%) > Gc1f (27%). The median calcidiol was 21.2 ng/mL (IR 15.3–26.9), and 81% had levels in the insufficiency range: 23 patients (48%) below 20 ng/mL, and 16 (33%) between 20 and 30 ng/mL. The median free vitamin D level was 4.2 pg/mL (IR 3.9–5.6). A positive correlation was observed between calcidiol and free vitamin D levels (r = 0.871; p < 0.0001). After adjustment for season, vitamin D supplementation, sex, and CF-related diabetes, patients with Gc1f polymorphism had a lower risk of vitamin D deficiency, OR 0.22 (95% CI 0.05–0.99), and p = 0.027. A negative linear trend was observed between the polymorphisms grouped into three categories (Gc1/Gc1, Gc1/Gc2, and Gc2/Gc2, in that order) and vitamin D and free vitamin D levels (p = 0.025 and p = 0.033, respectively). Conclusion: In CF, as in the general population, the most common VDBP haplotype in the Caucasian race is Gc1s. VDBP polymorphisms influence serum vitamin D and free vitamin D levels in CF patients. There is a good correlation between free vitamin D and calcidiol levels, suggesting that measuring the latter in CF does not seem to provide any additional benefit. [ABSTRACT FROM AUTHOR]

Background: Oral cholic acid therapy is an effective therapy in children with primary bile acid synthesis deficiencies. Most reported patients with this treatment have 3β-hydroxy-Δ5-C27-steroid oxidoreductase deficiency. The aim of the study was the evaluation of cholic acid therapy in a cohort of patients with the rarer Δ4-3-oxosteroid 5β-reductase (Δ4-3-oxo-R) deficiency. Methods: Sixteen patients with Δ4-3-oxo-R deficiency confirmed by AKR1D1 gene sequencing who received oral cholic acid were retrospectively analyzed. Results: First symptoms were reported early in life (median 2 months of age), with 14 and 3 patients having cholestatic jaundice and severe bleeding respectively. Fifteen patients received ursodeoxycholic acid before diagnosis, with partial improvement in 8 patients. Four patients had liver failure at the time of cholic acid initiation. All 16 patients received cholic acid from a median age of 8.1 months (range 3.1–159) and serum liver tests normalized in all within 6–12 months of treatment. After a median cholic acid therapy of 4.5 years (range 1.1–24), all patients were alive with their native liver. Median daily cholic acid dose at last follow-up was 8.3 mg/kg of body weight. All patients, but one, had normal physical examination and all had normal serum liver tests. Fibrosis, evaluated using liver biopsy (n = 4) or liver elastography (n = 9), had stabilized or improved. Cholic acid therapy enabled a 12-fold decrease of 3-oxo-∆4 derivatives in urine. Patients had normal growth and quality of life. The treatment was well tolerated without serious adverse events and signs of hepatotoxicity. Conclusions: Oral cholic acid therapy is a safe and effective treatment for patients with Δ4-3-oxo-R deficiency. [ABSTRACT FROM AUTHOR]

Wilson disease (WD) is a rare copper metabolism disorder caused by mutations in the ATP7B gene. It usually affects young individuals and can produce hepatic and/or neurological involvement, potentially affecting health-related quality of life (HRQoL). We assessed HRQoL in a cohort of Spanish patients with WD and evaluated disease impact on several domains of patients' lives, treatment adherence, drug preference and satisfaction, and healthcare resource utilisation in a cross-sectional, retrospective, multicentric, observational study. A total of 102 patients were included: 81.4% presented isolated liver involvement (group H) and 18.6% presented neurological or mixed involvement (group EH). Up to 30% of patients reported a deteriorated emotional status with anxiety and depression, which was greater in the EH subgroup; the use of neuropsychiatric drugs was high. Over 70% of the patients were satisfied with their current treatment but complained about taking too many pills, stating they would consider switching to another more patient-friendly treatment if available. The Simplified Medication Adherence Questionnaire revealed only 22.5% of patients were fully adherent to therapy, suggesting that alternative therapies are needed. This real-world study, even though is highly enriched with hepatic patients and mild disease, shows that WD impacts patients' HRQoL, especially in the emotional domain. [ABSTRACT FROM AUTHOR]

Introduction: Background: the prevalence of overweight and obesity showed and increasing trend over the past few years. The burden of this epidemic represents a public health issue worldwide. Spain, and especially the Canary Islands, are not exempt. Pregnancy is a situation of weight gain, and the amount of such increase during gestation can affect the health status of both the mother and her baby. Thus, an optimal dietary style becomes of importance. Aim: given the benefits of the Mediterranean diet (MD) on various health outcomes, we aimed to study the adherence to this dietary pattern in a sample of Canarian pregnant women, and to investigate its association with their newborn's weight. Methods: adherence to MD as well as clinical history and anthropometrics were assessed in a sample of pregnant women followed at a Canarian hospital. Similarly, their newborn characteristics were studied. Results: our findings showed an overall low adherence to MD, with no association between this trend and birthweight. Conclusions: in conclusion, specific tools should be tailored to the target population to assess adherence to MD, and further efforts should be made to promote a healthy eating pattern and lifestyle among the pregnant population. [ABSTRACT FROM AUTHOR]

Introduction: Background: the prevalence of overweight and obesity showed and increasing trend over the past few years. The burden of this epidemic represents a public health issue worldwide. Spain, and especially the Canary Islands, are not exempt. Pregnancy is a situation of weight gain, and the amount of such increase during gestation can affect the health status of both the mother and her baby. Thus, an optimal dietary style becomes of importance. Aim: given the benefits of the Mediterranean diet (MD) on various health outcomes, we aimed to study the adherence to this dietary pattern in a sample of Canarian pregnant women, and to investigate its association with their newborn's weight. Methods: adherence to MD as well as clinical history and anthropometrics were assessed in a sample of pregnant women followed at a Canarian hospital. Similarly, their newborn characteristics were studied. Results: our findings showed an overall low adherence to MD, with no association between this trend and birthweight. Conclusions: in conclusion, specific tools should be tailored to the target population to assess adherence to MD, and further efforts should be made to promote a healthy eating pattern and lifestyle among the pregnant population.