José Gonçalo Marques

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BACKGROUND Severe combined immunodeficiency (SCID) is a syndrome characterized by profound T-cell deficiency. BCG vaccine is contraindicated in patients with SCID. Because most countries encourage BCG vaccination at birth, a high percentage of patients with SCID are vaccinated before their immune defect is detected. OBJECTIVES We sought to describe the(More)
FOXN1 deficiency is a primary immunodeficiency characterized by athymia, alopecia totalis, and nail dystrophy. Two infants with FOXN1 deficiency were transplanted with cultured postnatal thymus tissue. Subject 1 presented with disseminated Bacillus Calmette-Guérin infection and oligoclonal T cells with no naive markers. Subject 2 had respiratory failure,(More)
AIM To report and describe a series of four cases of chronic recurrent multifocal osteomyelitis (CRMO) and to discuss therapeutic options, particularly bisphosphonate therapy. METHODS Retrospective review of four CRMO cases in two Pediatric Units in Lisbon, between 2005 and 2010. RESULTS Median age of first CRMO symptoms was 11.3 years (range 9-13). The(More)
Forkhead box N1 (FOXN1) is a transcription factor crucial for thymic epithelium development and prevention of its involution. Investigation of a patient with a rare homozygous FOXN1 mutation (R255X), leading to alopecia universalis and thymus aplasia, unexpectedly revealed non-maternal circulating T-cells, and, strikingly, large numbers of aberrant(More)
INTRODUCTION PFAPA syndrome (Periodic Fever, Aphthous stomatitis, Pharyngitis, Adenitis) is a benign sporadic syndrome of unknown cause and an important diagnosis to consider in the child with recurrent fever and tonsillitis. OBJECTIVES To describe the presentation, age of onset, time until diagnosed, episode duration, frequency of typical and atypical(More)
The characteristics of thermoluminescence dosemeters (TLDs) regarding the determination of photon and neutron absorbed doses were investigated in a thermal neutron beam. Harshaw TLD-100 (LiF:Mg,Ti) and TLD-700 (7LiF:Mg,Ti) were compared with similar materials from Solid Dosimetric Detector and Method Laboratory (People's Republic of China). Harshaw TLD-700H(More)
We present a case report of a four-year-old boy with torcicollis and trismus after acute otitis media. Grisel Syndrome diagnosis in association with temporo-mandibular reactive arthritis was admitted, leading to early conservative treatment. GS should be suspected in a child presenting with torticollis after an upper respiratory tract infection or an ENT(More)
Al(2)O(3):Mg,Y thermoluminescence (TL) dosemeters were used to measure photon and fast neutron doses in a fast neutron beam recently implemented at the Portuguese Research Reactor, Nuclear and Technological Institute, Portugal. The activation of Al(2)O(3):Mg,Y by fast neutrons provides information about the fast neutron component by measuring the activity(More)
The fast neutron irradiation facility of the Portuguese Research Reactor was characterized after the reduction in uranium enrichment and rearrangement of the core configuration. In this work we report on the determination of the hardness parameter and the 1MeV equivalent neutron flux along the facility, in the new irradiation conditions, following ASTM E722(More)