20 documents found, page 1 of 2

Oral Self-Mutilation in Lesch-Nyhan Syndrome: A Case Report

Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused by a deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase. It is characterized by dystonia and compulsive self-mutilation, in particular, biting behavior on the oral mucosa, tongue, lips, fingers, and shoulders, typically before one year of age. The majority of these patients require several procedur...

A Rare Case of Pleural Empyema Caused by Campylobacter Rectus

Campylobacter rectus is considered to be a primary periodontal pathogen that is rarely identified in extraoral specimens. We report a case of pleural empyema caused by Campylobacter rectus: the pathogen was isolated in the drained pleural fluid sample. Since the patient had previously undergone multiple antibiotic treatments, oral cultures were highly unlikely to be positive, although poor dental hygiene appear...

High-Flow Nasal Cannula Oxygen Therapy in Pulmonary Fat Embolism - Case Report

Hyperleukocytosis in Solid Tumors: a Rare Paraneoplastic Syndrome Associated wi...

Hematological paraneoplastic syndromes are fairly uncommon. While mild leukocytosis in solid tumors is well reported, white blood cell (WBC) count over 50,000 u/L, described as paraneoplastic leukemoid reaction (PLR), is not. Indeed, when found, it is usually associated with a higher burden of disease, tumor activity and worse clinical outcomes. We report the case of a challenging and burdensome diagnosis of a ...

Limbic Encephalitis When the Immune Response Is the Hidden Problem

Limbic Encephalitis (LE) defined as a rare and frequently underrecognized immunomediated syndrome, presents with a constellation of unspecific behavioral and neuropsychiatric symptoms, developing over weeks to months. Personality disturbance, complex partial mesotemporal seizures and a subacute severe impairment of short-term memory are the cardinal symptoms, reflecting the involvement of the grand lobe limbiqu...

Fenómeno da Migração nas Doenças Infeciosas

Population Genetics of IFITM3 in Portugal and Central Africa Reveals a Potentia...

Influenza epidemics are a serious global public health and economic problem. The IFITM3 allele (rs12252-C) was suggested as a population-based genetic risk factor for severe influenza virus infection by A(H1N1)pdm09. We analyzed the population genetics of IFITM3 variants in the Portuguese general population (n = 200) and Central Africans (largely Angolan) (n = 148) as well as its association to influenza severi...

Population genetics of IFITM3 in Portugal and Central Africa reveals a potentia...

Influenza epidemics are a serious global public health and economic problem. The IFITM3 allele (rs12252-C) was suggested as a strong population-based genetic risk factor for severe influenza virus infection by A(H1N1)pdm09. We analyzed the population genetics of IFITM3 variants in Portuguese general population (n=200) and Central Africans (largely Angolan) (n=148) as well as its association to influenza severit...

Copy number variants prioritization after array-CGH analysis - a cohort of 1000...

Array-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. Our study contributes to the genotype/phenotype correlation with the delineation of laboratory criteria which help to ...

Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with la...

We report a male patient with developmental delay carrying an interstitial 4p16.3 deletion of 287 kb, disclosed by oligo array-CGH and inherited from his father with a similar but milder phenotype. This deletion is distal to the Wolf-Hirschhorn syndrome critical regions, but includes the FGFRL1 gene proposed to be a plausible candidate for part of the craniofacial characteristics of Wolf-Hirschhorn syndrome pat...