[Diagnosis recommendations for late-onset Pompe disease].

Introduction: Pompe disease is a progressive and debilitating autossomal recessive myopathy due to mutations in lysossomal acid-α-glucosidase. Its late-onset form has a heterogeneous presentation mimicking other neuromuscular diseases, leading to diagnostic challenge.

Objective: To develop consensus based recommendations for the diagnosis of late-onset Pompe Disease.

Gastrointestinal ultrasound in neonates, infants and children.

Today US plays an important and increasing role in the assessment of many, partially age-specific conditions in the GI tract in neonates, infants and children. Knowledge of the potential capabilities of US and its restrictions together with a skillful performance of GI US examination can provide essential anatomic and functional diagnostic information in many pediatric GI disorders. The aim of this review is to highlight the potential of ultrasound (US) in the evaluation of the gastrointestinal (GI) tract in neonates, infants and children.

[Medicine on the work of Amadeo de Souza-Cardoso].

Amadeo de Souza-Cardoso, one of the pivotal figures of the Portuguese Modernist movement, studied painting and began his work in Paris where he arrived at the age of 19. Interestingly, Amadeo cemented strong friendships with some physicians from his time. The first was Manuel Laranjeiro, physician, poet and essayist, who has been a major influence on his choice of studying visual arts.

Tubulointerstitial Nephritis and Uveitis Syndrome with non caseating granuloma in bone marrow biopsy.

The Tubulointerstitial Nephritis and Uveitis syndrome is a very rare condition, probably under-diagnosed in clinical practice. It is characterized by the combination of an interstitial nephritis and uveitis, and is an exclusion diagnosis. Tissue non caseating granuloma can be rarely present, with only 6 cases reported on bone marrow.

[Hospital protocol for snakebite victims management].

Venomous snakebites are relatively rare in Portugal. Pediatric victims present with greater severity and are at risk of fatal complications. Clinical management protocols are the gold standard of care worldwide.

[Twin pregnancy with a complete hydatiform mole and a viable co-twin].

A complete hydatiform mole coexisting with a live, viable twin is a rare event. The diagnosis is challenging, and is normally achieved only at second trimester. It may be associated with thyrotoxicosis, vaginal bleeding, preeclampsia, fetal death or persistent throphoblastic disease.

[Total laparoscopic hysterectomy: retrospective analysis of 262 cases].

Introduction: Hysterectomy is one of the most common gynecological procedures and may be performed either by vaginal approach, laparotomy or laparoscopy. Although total laparoscopic hysterectomy has multiple advantages, conflicting major complication rates have been previously reported.

Objectives: To describe our experience performing TLH and to evaluate complication rates.

3D conformal hypofractionated radical radiotherapy in early glottic cancer.

Aim: The purpose of this study was to evaluate acute and late toxicity and the locoregional control in patients treated with hypofractionated radical radiotherapy 2.25 Gy/fraction/day for early glottic carcinoma.

Materials And Methods: A retrospective analysis was performed of 27 patients, stage T1-T2 N0 glottic squamous cell carcinoma, that underwent radical RT from April 2008 to October 2011.

Indications for cesarean deliveries during a 7-year period in a tertiary hospital.

Introduction: To analyze the cesarean section rate evolution in a tertiary hospital and the main indications for cesarean section.

Material And Methods: A retrospective study was conducted at a major academic hospital and included 5 751 women who had a cesarean section from 2005 to 2011. The rates of overall, primary and repeat cesarean sections were analyzed.

[Analysis of the Cochrane Review: Antibiotics for acute otitis media in children. Cochrane Database Syst Rev. 2013;1:CD000219].

Acute otitis media is one of the most common infections in children and one of the leading causes for antibiotic prescription. In this paper, we assess and comment the Cochrane systematic review 'Antibiotics for acute otitis media in children', which aimed at assessing the efficacy and safety of antibiotics for acute otitis media in children and identifying subgroups of children who might benefit more than others from antibiotic treatment. This review showed spontaneous resolution of acute otitis media in most children (82%) and a favorable but modest effect of antibiotics, namely in pain control (number needed to treat to benefit: 20), reduction of tympanic membrane perforations and reduction of contralateral acute otitis media.

Localized Pigmented Villonodular Synovitis of the shoulder: a rare presentation of an uncommon pathology.

Pigmented Vilonodular Synovitis is a rare clinical entity characterized as a synovial membrane benign tumour, despite possible aggressive presentation with articular destruction. The localized variant is four times less frequent and the shoulder involvement is uncommon. We present the case of a Caucasian 59 year-old patient, who presented with left shoulder pain, of uncharacteristic quality, with local swelling and marked functional limitation of 1 month duration.

Osteoporosis: from bone biology to individual treatment decision.

Introduction: Osteoporosis is a bone metabolic disease with increasing prevalence in ageing societies. Herein we reviewed recent epidemiologic findings and their impact in the individual patient management. In addition we dissected the major disease mechanisms which have uncovered new potential therapeutic strategies.

[Surgical treatment of spinal tuberculosis: an orthopedic service experience].

Introduction: Tuberculosis is responsible for more than 40% of spine infections. While tuberculostatic chemotherapy remains the gold-standard treatment, surgical intervention is necessary only in specific cases. This paper reports the results of 33 patients with spine tuberculosis operated in our department in the last 15 years.

Secondary bilateral striopallidodentate calcinosis associated with generalized pustular psoriasis (Von Zumbusch).

Bilateral striopallidodentate calcinosis (BSPDC) mentioned in the literature as Fahr's disease (a misnomer), is characterized by symmetrical and bilateral intracerebral calcifications located in the basal ganglia with or without deposits in the dentate nucleus, thalamus, and white matter. This entity is usually asymptomatic but may be manifested by neurological symptoms. Idiopathic BSPDC can occur either as sporadic or autosomal dominant familial forms.

"Half-half" blisters in bullous pemphigoid successfully treated with adjuvant high-dose intravenous immunoglobulin.

Bullous pemphigoid is a rare, autoimmune blistering disease. Its clinical presentation is tense blisters that may arise on normal-appearing or erythematous skin. Bullous pemphigoid refractory to systemic corticosteroids in combination with immunosuppressants such as azathioprine and mycophenolate mofetil may benefit from adjuvant high-dose intravenous immunoglobulin (IVIg).

Actinic reticuloid imitating Sézary syndrome.

Actinic reticuloid is a rare chronic idiopathic photosensitive dermatosis belonging to the spectrum of chronic actinic dermatitis and may be mistaken for cutaneous T-cell lymphoma. We report the case of an erythrodermic patient, initially diagnosed with Sézary syndrome, treated with chlorambucil and prednisolone. Later on, a photobiological study demonstrated photosensitivity to UVB, UVA, and visible light.

[Advances in antiretroviral therapy].

In spite of all the efforts that has been made in prevention and the success of antiretroviral therapy (ART), AIDS remains a serious public health problem. So, there is a need for development of new antiretrovirals (ARVs) and new therapeutic strategies. New ARVs are currently on advanced stages of clinical evaluation.

A randomized, placebo-controlled trial of memantine for functional disability in amyotrophic lateral sclerosis.

Our objective is to describe the results of a phase II/III, 12-months, double-blinded, single-centre, randomized, parallel (1:1), clinical trial performed to evaluate the efficacy and safety of memantine in ALS. Patients with probable or definite ALS of less than 36 months disease duration and progression over a one-month lead-in period were randomly assigned to placebo or memantine at 20 mg/day. The primary endpoint was 12-months ALSFRS decline.