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A importância da ecografia no diagnóstico pré-natal da associação VACTERL – Dois casos clínicos
Get PDFVATER is a nonrandom association of congenital defects with common developmental pathogenesis including/which includes malformations like vertebral defects, anal atresia or imperforate anus, tracheoesophageal fistula with esophageal atresia, and radial or renal dysplasia. VATER acronym was initially used to describe this association, but other malformations, like cardiac defects and limb anomalies, were later also considered cardinal features and included, changing the acronym to VACTERL.
Although few cases have been reported, VATER/VACTERL spectrum association can be detected in first-trimester ultrasound.
Herein, the authors describe two cases of VATER/VACTERL association suspected during the 12-week ultrasound and confirmed in anatomopathological study. Prenatal VACTERL association diagnosis is challenging and rarely detected in the first pregnancy trimester. It requires skill and experience to interpret ultrasound findings and some features are difficult to recognize before birth. Early diagnosis is important for parental counselling and delivery planning. Management options include medical pregnancy termination and delivery in a tertiary center to improve outcomes.info:eu-repo/semantics/publishedVersio
Caracterização da população de mulheres grávidas seguidas num serviço de saúde mental
Get PDFIntroduction: Psychopathological symptoms are common during pregnancy and their detection and referral to specialized care is often suboptimal. The aim of this study was to perform a descriptive analysis of sociodemographic, mental health, and obstetric features of a population of pregnant women followed at Psychiatry consultation.
Methodology: This was a cross-sectional, descriptive study of women followed both at Gynecology/Obstetrics and Psychiatry consultations of Hospital Prof. Doutor Fernando Fonseca between 2014 and 2016. A total of 76 women were included, for whom pre-defined features associated in the literature with risk of developing psychopathological symptoms during pregnancy were collected.
Results and Discussion: Risk factors identified in the development of depressive symptoms included absence of an affective relationship during pregnancy (n=11; 14.5%), being first-generation immigrant (n=17; 22.4%), and substance use before (n=18; 23.7%) or during (n=10; 13.1%) pregnancy. Sample was divided into women with previous Psychiatry follow-up who became pregnant (n=44; 57.9%) and women referred to Psychiatry consultation during pregnancy (n=32; 42.1%). In the second group, 18.8% (n=6) of referrals were from primary health care, being relevant to understand whether this represents an under-referral.
Prescription of 21 risk category D drugs was identified, alerting to the need of caution in pharmacological prescription and of considering non-pharmacological options (e.g., cognitive-behavioral therapy) for management of these cases.
Conclusions: Risk factors identified in this study represent an opportunity to optimize clinical practice and improve these patients’ follow-up.info:eu-repo/semantics/publishedVersio
Anaphylaxis to Agaricus bisporus ingestion
Get PDFA 33-year-old male with house dust mite allergic rhinitis and asthma reported an episode of facial and lip angioedema, dyspnea, cough and dysphagia at the age of 25, minutes after eating a mushroom ( Agaricus bisporus ) pizza. He denied any drug intake, hymenoptera stings or other possible triggers, and no identifiable cofactors were present. Since then he avoided all types of mushrooms, however an accidental contact occurred with mushroom sauce that resulted in angioedema of the lip within minutes. The allergy workup included measurements of total IgE and specific IgE to mushroom, and skin prick test to aeroallergens sources, possible food allergen sources and mushroom extract, a prick to prick test with raw and cooked A. bisporus , in addition to a SDS-PAGE and immunoblotting assay. The study revealed a specific IgE to mushroom of 0.76kUA/L positive skin prick test to mushroom extract, and prick to prick test positive to white and brown A. bisporus (raw and cooked). The immunoblotting identified two IgE binding proteins with 10kDa and 27kDa. We report a case of A. bisporus anaphylaxis probably due to primary mushroom sensitization. We detected two IgE-reactive proteins with 10kDa and 27kDa as possible culprit allergens.info:eu-repo/semantics/publishedVersio
Immune-mediated necrotizing myopathy associated with antibodies to the signal recognition particle: A rare cause of hyperCKaemia
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Trombocitopenia neonatal imune - revisão
Get PDFIntroduction: Thrombocytopenia is the most frequent hematological change in the neonatal period, with immune thrombocytopenia as the main cause of moderate-to-severe thrombocytopenia in apparently healthy newborns. Immune thrombocytopenia in the fetus or newborn may result from platelet alloantibodies against paternal antigens inherited by the fetus (alloimmune thrombocytopenia) or platelet autoantibodies due to maternal autoimmune disease (autoimmune thrombocytopenia).Objetives: To review published literature about immune thrombocytopenia in newborns, including the latest advances in pathogenesis, diagnosis, treatment, and prevention.Results: Neonatal alloimmune thrombocytopenia is the most common cause of severe thrombocytopenia and intracranial hemorrhage in term neonates. Clinical presentation varies from mild thrombocytopenia to life-threatening bleeding and death. As maternal screening is not routinely performed, most cases are diagnosed in the first child. Despite intensive research, a consensus strategy for prevention and treatment of the condition is lacking. Diagnosis of neonatal autoimmune thrombocytopenia is usually apparent from maternal medical history and thrombocytopenia. Although maternal immune thrombocytopenic purpura does not carry a high risk of perinatal hemorrhage, it may lead to thrombocytopenia in the newborn, mostly mild-to-moderate. Clinical presentation varies from no symptoms to mucocutaneous signs of thrombocytopenia and may persist for weeks to months requiring long-term monitoring. Conclusions: Fetal and Neonatal alloimmune thrombocytopenia can cause severe disease in the affected fetus or newborn. Facing the lack of routine antenatal screening, the strategies currently proposed for pregnancies at risk. We also discussed the latest research and therapies in development, aiming at potential improvements in diagnosis, treatment, and prevention of this disease. Neonatal autoimmune thrombocytopenia may cause long-lasting low platelet count, that need regular checking.info:eu-repo/semantics/publishedVersio
Outcomes of membranous and proliferative lupus nephritis – analysis of a single-centre cohort with more than 30 years of follow-up
Get PDFObjectives: To compare membranous lupus nephritis (MLN) and proliferative lupus nephritis (PLN) with respect to survival, demographic, clinical and laboratory characteristics; and to investigate predictors of renal and patient survival.
Methods: Single-centre retrospective observational study. Patients with biopsy-proven PLN, MLN and mixed lupus nephritis were included. Groups were compared using appropriate statistical tests and survival was analysed through the Kaplan-Meier method. Cox regression analysis was performed to investigate predictors of renal and patient survival.
Results: A total of 187 patients with biopsy-proven lupus nephritis (135 with PLN, 38 with MLN and 14 with mixed LN) were followed for up to 42 years (median 12 years). There was a higher proportion of MLN amongst Afro-Caribbeans than amongst Caucasians (31% vs 15%, P = 0.010). Patients with MLN had significantly lower anti-dsDNA antibodies (P = 0.001) and higher C3 levels (P = 0.018) at diagnosis. Cumulative renal survival rates at 5, 10, 15 and 20 years were 91, 81, 75 and 66% for PLN and 100, 97, 92 and 84% for MLN, respectively (P = 0.028). Cumulative patient survival at 5, 10, 15 and 20 years was 94, 86, 80 and 76%, with no difference between PLN and MLN. Urinary protein-creatinine ratio above 42 mg/mmol and eGFR below 76 ml/min/1.73 m2, one year after the diagnosis of LN, were the strongest predictors of progression to end-stage renal disease. eGFR below 77 ml/min/1.73 m2, at one year, development of end-stage renal disease and Afro-Caribbean ethnicity were associated with higher mortality.
Conclusion: Patients with MLN and PLN differ significantly regarding serological profiles and renal survival, suggesting different pathogenesis. Renal function at year one predicts renal and patient survival.info:eu-repo/semantics/publishedVersio
Vertical displacement of pleura: a new method for bronchospasm evaluation?
Get PDFBackground: Lung ultrasonography has been increasingly recognized has a valuable diagnostic tool. In adult patients with asthma/chronic obstructive pulmonary disease and wheezing, LUS usually presents as an A/nude profile (normal profile, with sliding and A-lines, and without any abnormal findings) or at most reveals a decrease/absence of lung sliding. Therefore, until now simple point-of-care ultrasonography appeared to be unable to assess the severity of airflow limitation.
Case presentation: We report the case of a woman presenting to the emergency department with an asthma exacerbation. Bedside ultrasound showed the usual A/normal profile, but also an associated vertical pleural displacement, probably secondary to hyperinflation and accessory muscle recruitment. We evaluated the described movement with M-mode and established a comparison index between end-inspiration and end-expiration, using the skin as reference. This index showed improvement and complete normalization during treatment.
Conclusions: Pleural vertical displacement appears to be a sonographic alteration associated to bronchospasm and accessory muscle recruitment. It is easily identifiable and measurable on LUS, thus possibly representing a new method to evaluate bronchospasm and monitoring treatment response. Further research is needed to confirm or refute this finding.info:eu-repo/semantics/publishedVersio
αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum
Get PDFBackground: Rare pathogenic variants in either the ITGA2B or ITGB3 genes have been linked to autosomal dominant macrothrombocytopenia associated with abnormal platelet production and function, deserving the designation of Glanzmann Thrombasthenia-Like Syndrome (GTLS) or ITGA2B/ITGB3-related thrombocytopenia.
Objectives: To describe a series of patients with familial macrothrombocytopenia and decreased expression of αIIbβ3 integrin due to defects in the ITGA2B or ITGB3 genes.
Methods: We reviewed the clinical and laboratory records of 10 Portuguese families with GTLS (33 patients and 11 unaffected relatives), including the functional and genetic defects.
Results: Patients had absent to moderate bleeding, macrothrombocytopenia, low αIIbβ3 expression, impaired platelet aggregation/ATP release to physiological agonists and low expression of activation-induced binding sites on αIIbβ3 (PAC-1) and receptor-induced binding sites on its ligand (bound fibrinogen), upon stimulation with TRAP-6 and ADP. Evidence for constitutive αIIbβ3 activation, occurred in 2 out of 9 patients from 8 families studied, but also in 2 out of 12 healthy controls. We identified 7 missense variants: 3 in ITGA2B (5 families), and 4 in ITGB3 (5 families). Three variants (αIIb: p.Arg1026Trp and p.Arg1026Gln and β3: p.Asp749His) were previously reported. The remaining (αIIb: p.Gly1007Val and β3: p.Thr746Pro, p.His748Pro and p.Arg760Cys) are new, expanding the αIIbβ3 defects associated with GTLS. The integration of the clinical and laboratory data allowed the identification of two GTLS subgroups, with distinct disease severity.
Conclusions: Previously reported ITGA2B and ITGB3 variants related to thrombocytopenia were clustered in a confined region of the membrane-proximal cytoplasmic domains, the inner membrane clasp. For the first time, variants are reported at the outer membrane clasp, at the transmembrane domain of αIIb, and at the membrane distal cytoplasmic domains of β3. This is the largest single-center series of inherited macrothrombocytopenia associated with αIIbβ3 variants published to date.his study was supported by the Centro Hospitalar Universitário do Porto (CHUP)and by the Fórum Hematológico do Norte (FHN).The funders had no role in study design, data collection, and analysis, decision to publish, or preparation of the manuscript.info:eu-repo/semantics/publishedVersio