Publications by authors named "Ana Losa"

Background: Gallstone disease (GD) is no longer an exclusive condition of adulthood, and its prevalence is increasing in pediatric age. The management and the extent of the etiological investigation of GD in children and adolescents remains controversial. This study aimed to analyze the difficulties in the work-up and management of pediatric GD patients.

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Two severe cases of hemolytic anemia are described in different pediatric age groups, both linked to severe cobalamin deficiency from distinct causes. The first case refers to an exclusively breastfed infant with vitamin deficit secondary to maternal impaired absorption. Apart from the neurological deficits present at diagnosis, he also presented with infantile epileptic spasms syndrome a few months after treatment while having normal cobalamin serum levels.

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Blueberry muffin syndrome (BMS) in neonates, characterized by widespread nodular lesions, presents diagnostic challenges due to its diverse etiologies. Hyperleukocytosis, with leukocyte counts exceeding 100,000/μL, is a rare phenomenon associated with severe complications in neonates. Congenital leukemia (CL), a rare diagnosis within the first month of life, is linked to high mortality.

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Introduction Toxic shock syndrome (TSS) is a life-threatening disease usually caused by a or group Aβ-hemolytic infection. Methods In this retrospective study, we included patients with TSS admitted to a tertiary hospital's pediatric intensive care unit (PICU) over the last 18 years. We compared the staphylococcal TSS (Staph-TSS) and streptococcal TSS (Strep-TSS) groups.

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Introduction Congenital toxoplasmosis (CT), despite being mostly subclinical at birth, can cause disabling disease in the fetus and lead to long-term sequelae. It is an important cause of chorioretinitis in infants and adolescents. Data on postnatal treatment are controversial, and there is a lack of universal guidelines.

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Article Synopsis
  • Adrenoleukodystrophy (X-ALD) is a rare genetic disorder primarily affecting males, caused by mutations that impair the transportation of very long chain fatty acids, leading to adrenal insufficiency and neurological damage.
  • In a case series studied at a Portuguese hospital, four male patients, diagnosed on average at 5 years, showed diverse clinical presentations, with 75% having isolated adrenal insufficiency and 25% exhibiting cerebral adrenoleukodystrophy (CALD).
  • Early diagnosis through screening for elevated VLCFA levels and genetic testing is crucial for better treatment outcomes and facilitates options like genetic counseling and family planning.
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Alterations in gonad formation or function can lead to congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. These conditions are referred to as disorders of sex development (DSD) and have a heterogeneous etiology. The assessment of these children by a multidisciplinary team is crucial for an accurate diagnosis and should be initiated promptly due to the potentially life-threatening nature of congenital adrenal hyperplasia, a common cause of DSD.

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The therapeutic approach to inflammatory bowel disease (IBD) is complex, often involving multiple pharmacologic classes. We aimed to evaluate the prevalence of drug-related adverse reactions (ARs) associated with therapies used in pediatric IBD. We conducted a retrospective study of pediatric patients with IBD followed in a tertiary hospital from 2010 to 2022.

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