Amino acids, glucose metabolism and clinical relevance for phenylketonuria management

It is general knowledge that glycaemia is affected by digested nutrients.Amino acids intake appears to be an important regulator in this regard. Many questions need to be answered, such as the real mediators of this responseand the mechanisms underlying this metabolic behavior. Studies have been undertaken in order to investigate the role of amino acids on metabolic parameters. Their main fndings suggest that the ingestion of free aminoacids have a pivotal role in avoiding glycaemia excursions, improving glucosetolerance. In parallel, several important molecules for glucose metabolism have been exploited. Insulin and glucagon-like peptide - 1 (GLP-1) release seemto be the main triggers of this response. This insulinogenic effect is attributed to some amino acids, particularly the branched-chain amino acids (leucine, isoleucine and valine). GLP-1 may exert its effects by activating its receptor inpancreas and enhancing insulin release by β-cells or through its extrapancreaticactions. The mechanisms that may justify the aforementioned effects remainto be answered, being the mTOR pathway activation a possible key. Thesemetabolic effects may have a special interest within the nutritional management of Phenylketonuria (PKU), an inborn metabolic disease of phenylalanine (Phe) catabolism. Since a Phe restricted diet is the mainstay of PKU treatment, a chronic supplementation with a Phe-free amino acid mixture is used. Although scientifc evidence is scarce, it is hypothesized whether this chronic ingestion may modulate glycaemia

Burkitt’s Lymphoma Related to Epstein–Barr Virus Infection During Pregnancy

Setting: Burkitt’s lymphoma is a rare form of cancer and is an extremely rare diagnosis during pregnancy. This form of lymphoma is a very fast growing B cell neoplasm and chemotherapy is the treatment of choice for the disease in all its stages. Case report: The authors describe the case of a Caucasian 40-year-old nulliparous woman, with previous known Epstein–Barr virus infection, that presents at 28 weeks gestation with supraclavicular adenopathy and multiple bilateral breast nodules, in which biopsy showed non-Hodgkin lymphoma, Burkitt’s type. Discussion: There are few described cases of Burkitt’s lymphoma during pregnancy and in general the outcomes have been poor. In most of the cases, the patients were not treated by current standards or instead had a late diagnosis. This neoplasia is the most rapidly progressive human tumor, and any delay in initiating therapy can adversely aVect patient’s prognosis. The authors discuss treatment options in pregnancy and its perinatal implications

Kidney Abscess During Pregnancy. A Case Report

Apesar das infecções urinárias serem relativamente frequentes durante a gravidez, a ocorrência de um abcesso renal é muito raro. A patogénese do abcesso renal tem mudado ao longo dos anos. Actualmente, mais de 75% dos casos têm origem numa infecção do aparelho urinário. Os autores apresentam o caso clínico de uma grávida de 35 anos, internada às 38 semanas e cinco dias de gestação por febre, náuseas, vómitos e dor lombar à direita. Os dados clínicos e os exames complementares realizados levaram ao diagnóstico de abcesso renal. É feita uma revisão da literatura acerca do tema

Anorectal Complications in Patients with Haematological Malignancies

Background: Anorectal complications are common in patients with haematological malignancies. Objectives: The objectives are to characterize anorectal complications in these patients, identify risk factors and shed light on treatment, morbidity and mortality rates. Patients and methods: A retrospective, observational study that included 83 inpatients with haematological malignancies and proctological symptoms from January 2010 to September 2015 was conducted. Clinical outcomes were obtained through a detailed review of medical records. Results: The median age was 56 years, and 52 (62.7%) patients were men. Fifty-six (67.5%) patients had nonseptic anorectal complications and 27 (32.5%) patients had septic anorectal complications. Risks factors: Patients with septic anorectal complications were more commonly male, older, and had lower absolute neutrophil counts, but the differences were not statistically significant (P=0.79, 0.67 and 0.89, respectively). In positive blood cultures [23/70 (32.9%)], Enterococcus faecium, Klebsiella pneumonia, and Escherichia coli were the most common isolated agents. Treatment: In nonseptic anorectal complications, conservative treatments/minor proctological procedures were adopted, and patients with septic anorectal complications were treated with antibiotics±major proctological procedures and/or surgical drainage/debridement. Results of treatment: Forty-eight (85.7%) patients in the nonseptic complications group improved compared with 23 (85.2%) patients in the septic complications group. The overall mortality rate was 2.4% (n=2), with one (1.2%) death related to perianal sepsis. Conclusion: Enterococcus spp. were more commonly identified in this study and can be increasing in this specific population. In contrast to other reports, we did not identify an association between septic anorectal complications and possible risk factors such as male sex, younger age or a low absolute neutrophil count. Most patients had nonseptic anorectal complications. A major proctological procedure/surgical debridement should always be applied in septic complications, which have better prognoses now than in the past.info:eu-repo/semantics/publishedVersio

Primary Biliary Cholangitis: a Rare Diagnosis During Pregnancy

Primary biliary cholangitis is an autoimmune disease that mostly affects women. It is uncommon in women of childbearing age and the diagnosis during pregnancy is rare and can be challenging. Described here is a case of primary biliary cholangitis first manifesting during pregnancy, with the onset of pruritus, jaundice, biochemical liver abnormalities and positive antimitochondrial antibodies. Although treatment with ursodeoxycholic acid was started at the time of diagnosis, there was a progressive worsening of cholestatic biochemical markers throughout pregnancy. In addition, fasting hyperglycemia with polyhydramnios was diagnosed, consistent with gestational diabetes. She had a spontaneous preterm delivery at 31 weeks of gestation, of a newborn who was admitted to the neonatal intensive care unit but who subsequently had no long-term sequelae of preterm delivery. A maternal postpartum flare occurred. Treatment with ursodeoxycholic acid was well tolerated during pregnancy and lactation.info:eu-repo/semantics/publishedVersio

Iodine Availability through Iodized Salt in Portugal: 2010-2021 Sales Evolution and Distribution

Salt iodization programs are considered the most cost-effective measures to ensure adequate iodine intake in iodine-deficient populations. Portuguese women of childbearing age and pregnant women were reported to be iodine-deficient, which led the health authorities, in 2013, to issue a recommendation for iodine supplementation during preconception, pregnancy and lactation. In the same year, iodized salt became mandatory in school canteens. Of note, no regulation or specific programs targeting the general population, or the impact of iodized salt availability in retailers, are known. The present study analyzed iodized salt supermarket sales from 2010 to 2021 from a major retailer, identifying the proportion of iodized salt in total salt sales and its distribution in mainland Portugal. Data on iodine content were collected through the nutritional label information. Of a total of 33 salt products identified, 3 were iodized (9%). From 2010 to 2021, the weighted sales of iodized salt presented a growing tendency, reaching the maximum of 10.9% of total sales (coarse plus fine salt) in 2021. Iodized salt reached a maximum of 11.6% of total coarse salt in 2021, a maximum of 2.4% of the total fine salt in 2018. The overall sales of iodized salt and their contribution to iodine intake are extremely low, prompting additional studies to understand the consumer's choice and awareness of the benefits of iodized salt

Conservative Management of Asymptomatic Adnexal Masses Classified as Benign by the IOTA ADNEX Model: a Prospective Multicenter Portuguese Study

This prospective multicentric study aiming to determine the incidence of complications (malignant transformation, torsion or rupture) during conservative management of adnexal masses was performed in two Portuguese tertiary referral hospitals. It included ≥18-year-old, non-pregnant patients with asymptomatic adnexal masses (associated IOTA ADNEX risk of malignancy < 10%) sonographically diagnosed between January 2016 and December 2020. Conservative patient management consisted of serial clinical and ultrasound assessment up to 60 months of follow-up, spontaneous resolution of the formation or surgical excision (median follow-up: 17.8; range 9-48 months). From the 573 masses monitored (328 premenopausal and 245 postmenopausal adnexal masses), no complications were observed in 99.5%. The annual lesion growth rates and increases in morphological complexity were similar in the premenopausal and postmenopausal patients. Spontaneous resolution, evidenced in 16.4% of the patients, was more common in the premenopausal group (p < 0.05). Surgical intervention was performed in 18.4% of the cases; one borderline and one invasive FIGO IA stage cancer were diagnosed. There was an isolated case of ovary torsion (0.17%). These data support conservative management as a safe option for sonographically benign, stable and asymptomatic adnexal masses before and after menopause and highlight the need for expedite treatment of symptomatic or increased-morphological-complexity lesions.info:eu-repo/semantics/publishedVersio

Sex differences in presenting symptoms of acute coronary syndrome: the EPIHeart cohort study

Objectives Prompt diagnosis of acute coronary syndrome (ACS) remains a challenge, with presenting symptoms affecting the diagnosis algorithm and, consequently, management and outcomes. This study aimed to identify sex differences in presenting symptoms of ACS. Design Data were collected within a prospective cohort study (EPIHeart). Setting Patients with confirmed diagnosis of type 1 (primary spontaneous) ACS who were consecutively admitted to the Cardiology Department of two tertiary hospitals in Portugal between August 2013 and December 2014. Participants Presenting symptoms of 873 patients (227 women) were obtained through a face-to-face interview. Outcome measures: Typical pain was defined according to the definition of cardiology societies. Clusters of symptoms other than pain were identified by latent class analysis. Logistic regression was used to quantify differences in presentation of ACS symptoms by sex. Results Chest pain was reported by 82% of patients, with no differences in frequency or location between sexes. Women were more likely to feel pain with an intensity higher than 8/10 and this association was stronger for patients aged under 65 years (interaction P=0.028). Referred pain was also more likely in women, particularly pain referred to typical and atypical locations simultaneously. The multiple symptoms cluster, which was characterised by a high probability of presenting with all symptoms, was almost fourfold more prevalent in women (3.92, 95% CI 2.21 to 6.98). Presentation with this cluster was associated with a higher 30-day mortality rate adjusted for the GRACE V.2.0 risk score (4.9% vs 0.9% for the two other clusters, P<0.001). Conclusions While there are no significant differences in the frequency or location of pain between sexes, women are more likely to feel pain of higher intensity and to present with referred pain and symptoms other than pain. Knowledge of these ACS presentation profiles is important for health policy decisions and clinical practice.This study was funded by FEDER through the Operational Programme Competitiveness and Internationalization and national funding from the Foundation for Science and Technology (FCT; Portuguese Ministry of Science, Technology and Higher Education) (FCOMP-01-0124-FEDER-028709), under the project ’Inequalities in coronary heart disease management and outcomes in Portugal' (Ref. FCT PTDC/DTP-EPI/0434/2012) and Unidade de Investigação em Epidemiologia—Instituto de Saúde Pública da Universidade do Porto (EPIUnit) (POCI-01-0145-FEDER-006862; Ref. UID/DTP/04750/2013)

Inequalities in access to cardiac rehabilitation after an acute coronary syndrome: the EPiHeart cohort

Objectives To estimate cardiac rehabilitation (CR) referral and participation rates among patients with acute coronary syndrome (ACS) and to identify their determinants, in two Portuguese regions. Design Prospective cohort study. Setting Patients consecutively admitted to the cardiology department of two hospitals, one in the district of Porto and one in the north-east region (NER) of Portugal, were enrolled in the EPIHeart cohort and then followed up for 6 months. Participants Between August 2013 and December 2014, 939 patients were included in the cohort, and 853 were re-evaluated at 6-month follow-up. Outcome measures Referral rate was defined as the proportion of eligible patients who were referred to a CR programme, whereas participation rate was defined as the proportion of eligible patients who completed a CR programme, as was recommended by their physicians. Results Patients referred were 32.3% and 10.7% of those eligible in Porto and NER, respectively. In both regions, referral to CR decreased with age and with longer travel times to CR centres and increased with education or social class. At follow-up, 128 patients from Porto (26.2% of those eligible and 81.0% of those referred) and 26 from NER (7.1% of those eligible and 66.7% of those referred) reported actually participating in a CR programme. In Porto, the main barriers to participation were the long time until a programme was available and lack of perceived benefit. Patients in NER identified distance to CR and costs as the main barriers. Conclusions CR remains clearly underused in Portugal, with major inequalities in access between regions. Achieving equitable and greater use of CR requires a multilevel approach addressing barriers related to healthcare system, providers and patients in order to improve provision, referral and participation.This study was supported by FEDER through the Operational Programme Competitiveness and Internationalisation and national funding from the Foundation for Science and Technology—FCT (Portuguese Ministry of Science, Technology and Higher Education) (FCOMP-01-0124-FEDER-028709), under the project ‘Inequalities in coronary heart disease management and outcomes in Portugal’ (FCT PTDC/DTP-EPI/0434/2012) and the Unidade de Investigação em Epidemiologia—Instituto de Saúde Pública da Universidade do Porto (EPIUnit) (POCI-01-0145-FEDER-006862; ref UID/DTP/04750/2013)