Acquired von Willebrand Syndrome and Chronic Anaemia: A Different Diagnostic Approach.

Unlabelled: Heyde's syndrome is a form of acquired von Willebrand syndrome that consists of bleeding from intestinal angiodysplasia in the presence of aortic stenosis (AS). An association with obstructive hypertrophic cardiomyopathy, rather than AS, by a similar mechanism has also been described. We report the case of a 78-year-old woman with chronic anaemia and hypertrophic obstructive cardiomyopathy in whom intestinal angiodysplasia with active bleeding was identified by an unconventional method.

Foodborne Botulism: Neglected Diagnosis.

Unlabelled: Botulism is rare neuroparalytic disease caused by botulinum toxin, one of the most toxic substances known. Foodborne botulism is caused by consumption of foods contaminated with botulinum toxin. The clinical manifestations are flaccid, symmetrical, descending paralysis affecting cranial and peripheral nerves.

The Lateral Approach in the Surgical Treatment of a Complex Dorsal Metacarpophalangeal Joint Dislocation of the Index Finger.

Complex dorsal metacarpophalangeal (MCP) joint dislocations as a result of hyperextension injuries are uncommon in the pediatric population and irreducible to closed maneuvers. Treatment of these complex lesions is invariably surgical, and dorsal or volar approaches are traditionally used. The authors describe a case of a 16-year-old male who suffered a fall onto his outstretched right hand in a soccer game.

Vascular training does matter in the outcomes of saphenous high ligation and stripping.

Objective: Varicose vein (VV) surgery is frequently performed by surgeons without formal vascular training. We aimed to compare the outcomes of the procedure based on the background of the surgeon.

Methods: All patients registered with VV surgery between 2004 and 2016 in Portuguese public hospitals were included in the study.

Combined Pituitary Hormone Deficiency Caused by a Synonymous HESX1 Gene Mutation.

Context: Mutations in the HESX1 gene can give rise to complex phenotypes that involve variable pituitary hormone deficiencies and other developmental defects.

Case Description: A 14-year-old boy presented with short stature and delayed puberty and received a diagnosis of GH deficiency, central hypothyroidism, hypogonadotropic hypogonadism, and secondary adrenal insufficiency. He had anterior pituitary hypoplasia, ectopic posterior pituitary, and an interrupted pituitary stalk.

Incidental diagnosis of breast cancer in the pursuit of the treatment of intestinal obstruction.

Intestinal lipomatosis is rare and often asymptomatic but can present with intestinal obstruction. Occasionally, metastatic breast cancer is identified in the ovary before a breast primary is discovered. We report the case of a 50-year-old woman diagnosed with synchronous intestinal obstruction due to lipomatosis, and incidental ovarian metastases from breast cancer.

Congenital Adrenal Hyperplasia-When Clinical Symptoms Are Missing.

Background: Congenital adrenal hyperplasia is an autossomic recessive condition. The most common mutation is in the CYP21A2 gene situated in chromosome 6, leading to a 21-hydroxylase deficiency. Clinical presentation ranges from light hyperandrogenism to potentially fatal adrenal salt-losing crisis.

Dietary interventions in fibromyalgia: a systematic review.

Fibromyalgia (FM) is a chronic non-degenerative disease, whose nutritional therapy seems controversial. This systematic review aimed to synthesize the knowledge about the effect of dietary interventions on patient-reported outcomes (PRO) and inflammation in patients with FM. Six electronic databases - PubMed, BioMed Central, Cochrane library, EMBASE, LILACS and ISI - were searched for clinical trials, in which a dietary intervention in patients with FM diagnosed was conducted.

CDH1 somatic alterations in Mexican patients with diffuse and mixed sporadic gastric cancer.

Background: Diffuse gastric cancer (DGC) is associated with the reduction or absence of the expression of the cell adhesion protein E-cadherin (encoded by the CDH1 gene). Molecular characteristics are less well described for mixed gastric cancer (MGC). The main somatic alterations that have been described in the CDH1 gene are mutations, loss of heterozygosity (LOH) and promoter methylation.

The Portuguese Severe Asthma Registry: Development, Features, and Data Sharing Policies.

The Portuguese Severe Asthma Registry ( RAG) was developed by an open collaborative network of asthma specialists. RAG collects data from adults and pediatric severe asthma patients that despite treatment optimization and adequate management of comorbidities require step 4/5 treatment according to GINA recommendations. In this paper, we describe the development and implementation of RAG, its features, and data sharing policies.

Prenatal sonographic diagnosis of Harlequin ichthyosis.

Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyoses. So far, there are only a few reports of prenatal diagnosis in the literature, as prenatal sonographic features are quite subtle. We report a case of prenatal diagnosis of Harlequin ichthyosis on third-trimester sonographic examination in a consanguineous couple with no history of the disease and describe its characteristic sonographic features.

Pyogenic Sacroiliitis in a Pediatric Patient: A Rare Case of Infection by .

This is a case report of pyogenic sacroiliitis in a pediatric patient caused by . The patient is a 16-year-old boy who presented to an emergency department with sudden onset of back pain radiating to the left lower extremity. The diagnosis was confounded by the presence of isthmic spondylolisthesis.

Irritable Hip as the Inaugural Symptom for Neuroblastoma.

Case Report: A four-year-old girl presented with fever and a painful limp in the left hip. Pain characteristics and anemia detected in the blood analyses were the first warning signs that the hip process was not standard. Although the primary suspicion was of septic arthritis, a CT scan of the abdomen revealed an adrenal neuroblastoma.

Febrile Neutropenia following Parvovirus B19 Infection and Cross Anti-Kell Reaction to E. Coli in Pregnancy.

Parvovirus B19 has tropism for red line blood cells, causing immune hydrops during pregnancy. A positive anti-Kell Coombs reaction usually happens during pregnancy when there is production of antibodies that target Kell antigens, but cross reactions to other antigens may occur. A 24-year-old Gypsy primigravida, 0 Rhesus positive, presented with persistent isolated hyperthermia for 2 weeks and a positive indirect Coombs test result with anti-Kell antibodies at routine tests.

Comparaison Between Endovascular Approach and Aorto-Bifemoral Bypass for Tasc D Aorto-iliac Disease Patients Treated between 2011-2017.

Introduction: In the last few years, endovascular approaches have been demonstrating remarkable results on the treatment of aortoiliac TASC D lesions. However, the results remain conflictuous and proper evidence regarding the best treatment option for this group of patients is still lacking. Through this work, we aim to compare patency, cost-effectiveness and quality of life in patients successfully treated by these two approaches.

Importance of three-dimensional speckle tracking in the assessment of left atrial and ventricular dysfunction in patients with myotonic dystrophy type 1.

Introduction And Aim: Myotonic dystrophy type 1 (DM1) is a multisystem disease in which cardiac involvement is common. The aim of this study was to identify early changes in left atrial (LA) mechanics and left ventricular (LV) systolic function in patients with myotonic dystrophy type 1 using three-dimensional (3D) speckle tracking echocardiography (3D-STE).

Methods: This observational study included 25 patients with DM1 and 25 healthy volunteers.

[Assessment of Urinary Incontinence in Pregnancy and Postpartum: Observational Study].

Introduction: The urinary incontinence can affect up to 50% of women at some stage of their lives, particularly during pregnancy and postpartum. This study was designed in order to identify and assess the prevalence and risk factors for urinary incontinence during the third trimester of pregnancy and three months postpartum.

Material And Methods: Observational and cross-sectional study.

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Abdominal actinomycosis is a rare infection and the non-recognition of this particular microorganism may led to a prolonged septic process and recurrent disease. We hereby present a case report of 53 years-old woman with a secondary peritonitis due to this microorganism and our option to perform a long course of penicillin derived antibiotics, after suture of a perforated gastric ulcer caused by a foreign body.

Impact of Routine Fractional Flow Reserve on Management Decision and 1-Year Clinical Outcome of Patients With Acute Coronary Syndromes: PRIME-FFR (Insights From the POST-IT [Portuguese Study on the Evaluation of FFR-Guided Treatment of Coronary Disease] and R3F [French FFR Registry] Integrated Multicenter Registries - Implementation of FFR [Fractional Flow Reserve] in Routine Practice).

Background: Fractional flow reserve (FFR) is not firmly established as a guide to treatment in patients with acute coronary syndromes (ACS). Primary goals were to evaluate the impact of integrating FFR on management decisions and on clinical outcome of patients with ACS undergoing coronary angiography, as compared with patients with stable coronary artery disease.

Methods And Results: R3F (French FFR Registry) and POST-IT (Portuguese Study on the Evaluation of FFR-Guided Treatment of Coronary Disease), sharing a common design, were pooled as PRIME-FFR (Insights From the POST-IT and R3F Integrated Multicenter Registries - Implementation of FFR in Routine Practice).

Mesenteric inflammatory pseudotumor: A difficult diagnosis. Case report.

Introduction: Inflammatory pseudotumor (IP) is an uncommon benign neoplasm. It was first described in the lung but it has been recognized in several somatic and visceral locations. Mesenteric presentation is rare and its clinical presentation is variable but patients can be completely asymptomatic.