Publications by authors named "Ana Palha"

We report a rare clinical case of a malignant prolactinoma in which the exponential increase of prolactin levels with minimal tumor growth and no response to treatment led to diagnosis of abdominal, thoracic, and vertebral metastases.

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The optimal care for patients with pituitary tumours is best provided in a multidisciplinary and collaborative environment, which requires the contribution of multiple medical specialties working together. The benefits and advantages of the pituitary multidisciplinary team (MDT) are broad, and all relevant international consensus and guidelines in the field recommend that patients with pituitary tumours should always be managed in a MDT. Endocrinologists and neurosurgeons are normally the leading specialties within the pituitary MDT, supported by many other specialties with significant contributions to the diagnosis and management of pituitary tumours, including neuropathology, neuroradiology, neuro-ophthalmology, and otorhinolaryngology, among others.

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Background: Maturity-Onset Diabetes of the Young (MODY) is an autosomal dominant condition and represents 1-5% of all cases of diabetes mellitus. MODY is often misdiagnosed as type 1 or type 2 diabetes. The rare subtype 5 (HNF1B-MODY) is due to hepatocyte nuclear factor 1β (HNF1B) molecular alteration and is remarkable for its multisystemic phenotypes characterized by a broad spectrum of pancreatic and extra-pancreatic clinical manifestations.

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Pituitary metastases are rare. Clinical presentation could range from asymptomatic to panhypopituitarism or local symptoms. We present a case report of a 43-year-old male patient with a new onset headache, visual disturbances, and panhypopituitarism.

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Article Synopsis
  • Parathyroid adenoma is the leading cause of primary hyperparathyroidism, and recent advancements allow for less invasive surgical options, emphasizing the role of nuclear medicine imaging for preoperative assessment.* -
  • This study reviewed the effectiveness of Doppler ultrasound in locating parathyroid adenomas in patients who underwent surgery, analyzing data from 171 patients between 2013 and 2022.* -
  • The results showed that Doppler ultrasound accurately identified adenomas in 77.6% of cases, making it a reliable, cost-effective, and safe first-line diagnostic tool for this condition.*
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The majority of pituitary adenomas occur in a sporadic context, and in the absence of known genetic predisposition. Three common variants at the (rs2359536), (rs10763170) and (rs17083838) loci were previously associated with sporadic pituitary adenomas in the Han Chinese population, but these findings have not yet been replicated in any other population. The aim of this case-control study was to assess if these variants are associated with susceptibility to sporadic pituitary adenomas in the Portuguese population.

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Background: Hypoglycemia is uncommon in people who are not being treated for diabetes mellitus and, when present, the differential diagnosis is broad. Artifactual hypoglycemia describes discrepancy between low capillary and normal plasma glucose levels regardless of symptoms and should be considered in patients with Raynaud's phenomenon.

Case Presentation: A 46-year-old female patient with a history of a sleeve gastrectomy started complaining about episodes of lipothymias preceded by sweating, nausea, and dizziness.

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Giant cell arteritis (GCA) is a granulomatous vasculitis involving large- and middle-sized arteries, with a predilection for cranial arteries. In this paper, we aim to describe a case of a biopsy- and ultrasound-proven GCA, presenting with anterior ischemic optic neuropathy (AION) and normal CRP and ESR at diagnosis and during follow-up, and to review the literature on GCA cases with low inflammatory markers, with a particular focus on the presence of eye involvement. Both CRP and ESR are important in the diagnosis of GCA; occurrence of this disease with normal acute phase reactants is unusual but does not rule out the diagnosis.

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Background: Since 2005, aromatase inhibitors (AIs) have been the adjuvant treatment of choice for postmenopausal women with early breast cancer (BC). In this study we characterize the adoption of AIs in Portugal, variables associated with treatment administration, and compare its effectiveness (either in monotherapy or sequential therapy) to tamoxifen monotherapy (TAM).

Patients And Methods: This was a retrospective cohort study that included postmenopausal women with stage I-III hormone receptor (HR) positive BC diagnosed from 2006 to 2008 and treated with adjuvant endocrine therapy in four participating institutions.

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Androgen-secreting ovarian tumours are extremely rare accounting for <5% of all ovarian neoplasms. They are more frequent in postmenopausal women and should be suspected in the case of a rapid onset of androgenic symptoms. We report 4 cases of postmenopausal women who presented with signs of virilisation.

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Background: A contemporary US study showed an increase in the use of chemotherapy in the last decade for some patients with stage-I breast cancer; with a rise in more intensive regimens, and declining use of anthracyclines. Nevertheless, there is still uncertainty on the absolute benefit of chemotherapy for these patients and the optimal regimen. In this study we compare those findings with the patterns of care among a Portuguese cohort of stage-I breast cancers.

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Aim: To characterize clinical, laboratorial, and histological profile of pediatric autoimmune gastritis in the setting of unexplained iron deficiency anemia investigation.

Methods: A descriptive, observational study including pediatric patients with a diagnosis of autoimmune gastritis (positive parietal cell antibody and gastric corpus atrophy) established in a 6 year period (2006-2011) in the setting of refractory iron deficiency anemia (refractoriness to oral iron therapy for at least 6 mo and requirement for intravenous iron therapy) investigation, after exclusion of other potentially contributing causes of anemia. Helicobacter pylori (H.

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Eosinophilic esophagitis is an emerging chronic oesophageal inflammatory disease, increasingly recognized both in children and in adults. It is presently accepted that this entity has a chronic course with persistent or relapsing symptoms and a wide range of clinical manifestations at different age groups: in children it is responsible for feeding disorders, vomiting or abdominal pain; in teenagers and adults it causes dysphagia and oesophageal food impaction. The etiopathogenesis of eosinophilic esophagitis has not been yet well established, but immuno-allergic mechanisms associated with a Th2 immune response have been proposed.

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Aneurysms of the sinuses of Valsalva are uncommon in clinical practice. Most are congenital, but secondary causes are also recognized. Congenital aneurysms of the left sinus of Valsalva are particularly rare.

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Objectives: Both bacterial and host determinants underlying differences in histopathology and clinical outcome in H. pylori pediatric infection, as compared to adults, are still poorly documented. Pediatric studies may provide important insights on H.

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Objective: Serum pepsinogens and gastrin have been proposed as markers of gastritis, but have seldom been studied in children. In this study the aim was to identify host- and Helicobacter pylori-related factors linked to variations in serum gastrin, PGI, PGII, and to evaluate the potential of these biomarkers for diagnosing gastritis, whether H. pylori-associated or not.

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Peutz-Jeghers syndrome is a rare autosomal dominant condition, characterized by gastrointestinal polyposis, mucocutaneous pigmentation and high risk of neoplasia in multiple organs. At pediatric age, major clinical impact is related to complications associated to intestinal polyps, but neoplasic risk isn't negligible. Though clinical surveillance is recommended since the age of 10 years, relevant lesions may occur before that age.

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Helicobacter pylori infection is one of the most common gastrointestinal infections worldwide and almost invariably causes chronic gastritis in the infected host. A predominant Th1 profile has been demonstrated in H. pylori-infected mucosa from adults, but no previous study has evaluated in situ cytokine expression in children.

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Background: Data concerning the effectiveness of Helicobacter pylori eradication regimens based in antibiotic susceptibility testing are scanty in children.

Aims: To identify the prevalence of antibiotic resistance in H. pylori strains isolated from Portuguese children in 1999-2003; to evaluate eradication rate after antibiotic susceptibility testing-based treatment; and to identify factors associated with resistance and eradication outcome.

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