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[X-linked agammaglobulinemia: experience in a Portuguese hospital].
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BACKGROUND
X-Linked agammaglobulinemia (XLA) is characterized by an arrest of B cell differentiation, leading to recurrent bacterial infections. Lifelong immunoglobulin replacement therapy (IRT) is indicated to prevent infections and their complications.
METHODS
A retrospective study of patients
Male breast cancer: Specific biological characteristics and survival in a Portuguese cohort.
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Male breast cancer (BC) represents an individual subtype of BC, with therapeutic procedures based on female BC therapy results. The present study evaluated the parameters currently used for the characterization and therapy of male BC, and their association with disease-free (DFS) and overall
Recommendations from a Portuguese Expert Group for Discontinuation of Tyrosine Kinase Inhibitors in Chronic Myeloid Leukemia Patients in Clinical Practice.
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Until recently, the main goal of chronic myeloid leukemia therapy was disease control with the best overall survival, which required lifelong treatment. However, currently, the treatment-free remission concept is becoming an important goal in clinical practice, and several tyrosine kinase inhibitors
Lactobacillus pentosus B231 Isolated from a Portuguese PDO Cheese: Production and Partial Characterization of Its Bacteriocin.
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Bacteriocin B231 produced by Lactobacillus pentosus, isolated from an artisanal raw cow's milk protected designation of origin Portuguese cheese, is a small protein with an apparent relative mass of about 5 kDa and active against a large number of Listeria monocytogenes wild-type strains, Listeria
Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. Online.
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We report a novel beta-sarcoglycan gene mutation identified in a 21-year-old Portuguese male with a progressive myopathy of intermediate severity, who had been misdiagnosed as Becker Muscular Dystrophy (BMD) based on clinical observations and muscle immunocytochemical anaylsis with dystrophin
MuTAR study, Phase II, open-label study of erlotinib (E) treatment in patients (pts) with locally advanced or metastatic non-small cell lung cancer (mNSCLC) who present activating mutations (MUT+) in the tyrosine kinase (TKI) domain of the epidermal growth factor receptor (EGFR), assessed the efficacy of 1L in Portuguese pts with mNSCLC EGFR Mut.
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The mitochondrial genome of the pinewood nematode (Bursaphelenchus xylophilus) lineage introduced in Europe.
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The pinewood nematode (PWN) Bursaphelenchus xylophilus is the causative agent of pine wilt disease and the greatest biological threat to conifer forests worldwide. Here we describe the near-complete mitochondrial DNA (mtDNA) sequence (12,945 bp) of the PWN lineage recently introduced in Europe. The
Interstitial Lung Disease Induced by Crizotinib in Non-Small-Cell Lung Cancer.
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The treatment of advanced non-small-cell lung cancer shifted with the development of molecular-targeted therapies, like the tyrosine kinase inhibitors. One example of tyrosine kinase inhibitors is crizotinib, an anaplastic lymphoma tyrosine kinase inhibitor, which targets an echinoderm
Evidence for proteolytic activity and biogenic amines production in Lactobacillus curvatus and L. homohiochii.
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After screening 372 strains of Lactobacillus spp. isolated from a Portuguese traditional dry fermented sausage, two Lactobacillus strains, a Lactobacillus homohiochii and a L. curvatus were selected, because they were positive for tyrosine and ornithine decarboxylase activities. Evidence for
Dataset on free amino acids contents of Serra da Estrela PDO cheeses determined by UPLC-DAD-MS/MS.
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The composition of Serra da Estrela PDO cheeses (total fat, total protein, salt and free amino acids) was assessed using NIR spectrophotometry and UPLC-DAD-MS/MS. In total, 24 cheeses were acquired from 6 certified cheesemakers located in 5 different municipalities within the delimited PDO
Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations.
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We analyzed 11 consecutive unrelated cases of polyneuropathy due to transthyretin amyloidosis. Direct sequencing of the promoter region, exons, and splice junctions revealed that each patient was heterozygous for a mutation: six patients had valine 30 substituted by methionine (V30----M;
Albinism in Africa as a public health issue.
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BACKGROUND
Oculocutaneous albinism (OCA) is a genetically inherited autosomal recessive condition and OCA2, tyrosine-positive albinism, is the most prevalent type found throughout Africa. Due to the lack of melanin, people with albinism are more susceptible to the harmful effects of ultraviolet
Pigment producing yeasts involved in the brown surface discoloration of ewes' cheese.
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The appearance of a brown surface discoloration on Portuguese ewes' cheese has never previously been reported on. The regular occurrence of this defect over the past few years has caused serious financial losses to producers, which has led to growing interest in its study. This paper describes a
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
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A deficiency in uroporphyrinogen decarboxylase (UROD) enzyme activity, the fifth enzyme of the heme biosynthetic pathway, is found in patients with sporadic porphyria cutanea tarda (s-PCT), familial porphyria cutanea tarda (f-PCT), and hepatoerythropoietic porphyria (HEP). Subnormal UROD activity is
The role of clinical pharmacists in treatment adherence: fast impact in suppression of chronic myeloid leukemia development and symptoms.
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Chronic myeloid leukemia (CML) is a clonal myeloproliferative disease, accounting for 15 to 20% of leukemias, with an incidence of one to two cases/100,000 inhabitants. In Brazil, the estimated incidence of leukemia is six cases/100,000 men and 4.28 cases/100,000 women. CML is characterized by the
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