PubMed Health⌕ Search

Biomedical subjects

Jesús Pozo

Publications and source records attributed to Jesús Pozo.

5 recordsLinked to original sources

Sporadic phaeochromocytoma in childhood: clinical and molecular variability.

Sporadic phaeochromocytoma is an infrequent tumour during paediatric age and may or may not be associated with specific autosomal dominant inherited cancer syndromes such as multiple endocrine neoplasia type 2 (MEN2), von Hippel-Lindau syndrome (VHL) type 2 or neurofibromatosis (NF) type 1. We report two cases of benign, adrenal, and unilateral phaeochromocytoma that clearly demonstrate the clinical and molecular heterogeneity of this disease during the paediatric period. The first patient presented a characteristic symptomatic form of sporadic phaeochromocytoma. The second patient, an incidental finding, was practically asymptomatic and had a de novo germline point mutation in the VHL gene (Arg167Trp). The frequency of de novo mutations in susceptible genes (especially the VHL gene) in paediatric patients with sporadic phaeochromocytoma and the elevated mortality of these cancer syndromes suggest that screening for mutations should be performed even in cases of non-familial sporadic phaeochromocytoma.

3-Iodobenzylguanidine↗

A novel single base deletion at codon 434 (1301delT) of the DAX1 gene associated with prepubertal testis enlargement.

We have identified a novel DAX1 frameshift mutation (1301delT) at codon 434 in a patient with primary adrenal insufficiency. This 11-day-old boy was admitted to the hospital with hyponatremia, hyperkalemia, and suspected congenital adrenal abnormality. He exhibited severe hypoglycemia, pallor of the skin, buccal and genital hyperpigmentation, hypotension (90/45 mm Hg), anemia, and diarrhea. Although basal gonadotropins were low, and responded minimally to exogenous GnRH, the size of his testes began to increase at age 4 and reached 4.5 mL at the age of 9 years and 8 months. Testosterone levels were prepubertal. These findings further emphasize the variable clinical presentation in children with DAX1 gene mutations and indicate the value of genetic testing in boys with primary adrenal insufficiency.

Abnormalities, Multiple↗

Ascertainment and treatment of delayed puberty.

The majority of patients with pubertal delay, can be classified as having primary pubertal delay (constitutional delay of growth and puberty, CDGP), although any child with a chronic disease could present with delayed puberty. In contrast, children with hypogonadism, either hyper- or hypogonadotropic, exhibit a total absence of pubertal development. Hence, early evaluation of these patients should be performed. Delay of puberty leads to psychological problems, secondary to short stature and/or delay in the acquisition of secondary sex characteristics and the reduction of bone mass. Although the final height in patients with CDGP is usually normal, some of these patients do not reach the third percentile or remain in the lowest part of the growth chart according to familial height. The most common reason for treating CDGP patients, usually with sex steroids, is for psychological difficulties and for loss of bone mineralization. Treatment must be individualized. Therapeutic options and new drugs will be discussed. Appropriate treatment and adequate nutritional intake are indicated in patients with delayed puberty due to chronic illness. In patients with hypo- or hypergonadotropic hypogonadism, puberty must be induced or completed. Different treatments (GnRH analogues, gonadotropins and sex steroids), and the main objectives are discussed.

Adolescent↗

Effects of Eucalyptus plantations on detritus, decomposers, and detritivores in streams.

Vast areas of the Iberian Peninsula are covered by monocultures of the exotic tree Eucalyptus globulus. Given that (1) leaf litter produced in the riparian areas is the main energy source for small streams, and (2) trees differ in their nutrient content, chemical defenses, and physical attributes, eucalypt plantations have the potential to affect the biology of streams. Research teams from the University of Coimbra and the University of the Basque Country have been addressing the potential effects of eucalypt plantations at several levels of study. Here we review the main conclusions of these investigations. Eucalypt plantations produced less litter than some deciduous forests. However, there were marked differences in timing of litterfall: litter production peaked during autumn in deciduous forests, whereas in the eucalypt forests it tended to peak in summer and to be more evenly distributed throughout the year. Despite these differences, the average standing stock of organic matter was higher in the eucalypt than in the deciduous forest. This may be attributed to (1) the occurrence of spates or heavy rain in autumn, the period of maximum litter fall in deciduous forests, and (2) bark accumulation in eucalypt forests. Because of differences in leaf composition, the nutrient input in eucalypt forests seems to be lower than in deciduous forests. The rate of decomposition of eucalypt leaves was strongly dependent on nutrients in the water: in nutrient-poor waters it was slower than that of most other leaf species, whereas in nutrient-rich waters it can be as fast as alder--a fast-decaying species. The biomass and cumulative diversity of aquatic hyphomycetes colonizing leaves did not differ between eucalypt and other native leaf species, but fungal sporulation generally peaked 2 weeks later on eucalypt leaves. This lag disappeared when lipids (but not polyphenolics) were chemically removed from eucalypt leaves. Similarly, addition of eucalypt oils to culture media retarded or suppressed fungal growth. Streams bordered by Eucalyptus had lower diversity of fungal spores (but similar spore densities) in Portugal; less consistent patterns were found in similar experiments in Spain. Eucalyptus leaves proved to be poor food for shredders. Under laboratory conditions leaves of Eucalyptus ranked low in food selection experiments using native shredders. The same shredders failed to grow and died when fed exclusively eucalypt leaves. The removal of oils from eucalypt leaves resulted in increased feeding rates, whereas the transfer of oils to alder leaves resulted in decreased feeding rates. The effect of eucalypt plantations on stream invertebrate communities is not very consistent. In nutrient-poor waters, fewer invertebrates colonized eucalypt than alder leaves, but this effect was mitigated after a microbial conditioning period in nutrient-rich waters. Portuguese streams bordered by Eucalyptus had lower numbers of invertebrates than streams surrounded by deciduous forests. In Spanish streams differences were less marked and nonexistent when looking at the composition of the communities, which change more from year to year than from site to site. Most of the eucalypt streams studied in Portugal and Spain dried up in summer, a fact that might reflect an increase in soil hydrophobity produced by Eucalyptus plantations. The very short planting-to-harvest period of eucalypt plantations results in additional impacts, such as soil loss, siltation of streams, or reduced amounts of woody debris in stream channels, which affects their capacity to retain leaf-litter, as well as the availability of habitat for invertebrates and fish. The studies by the Portuguese and Spanish research teams confirm the importance of maintaining riparian buffer strips to reduce human impact on streams and rivers.

Agriculture↗

Delayed puberty in chronic illness.

Delayed puberty can be defined as the lack of pubertal development at an age of 2 SD above the mean, which corresponds to an age of approximately 14 years for males and 13 years for females, taking both sex and ethnic origin into consideration. Its incidence associated with chronic illnesses is unknown; however, its clinical importance is relevant due to the larger percentage of patients with chronic disorders surviving until the age of puberty. Virtually every child with any chronic disease could present with delayed puberty (due to recurrent infections, immunodeficiency, gastrointestinal disease, renal disturbances, respiratory illnesses, chronic anaemia, endocrine disease, eating disorders, exercise and a number of miscellaneous abnormalities). Pubertal delay associated with chronic illness is accompanied by a delay in growth and the pubertal growth spurt. The degree to which growth and pubertal development are affected in chronic illness depends upon the type of disease and individual factors, as well as on the age at illness onset, its duration and severity. The earlier its onset and the longer and more severe the illness, the greater the repercussions on growth and pubertal development. The mechanism that trigger the start of physiological puberty remain unknown. Although malnutrition is probably the most important mechanism responsible for delayed puberty, emotional deprivation, toxic substances, stress and the side effects of chronic therapy, among others, have been implicated in the pathophysiology of delayed puberty. Therefore, early diagnosis is essential and appropriate and specific therapy fundamental.

Adolescent↗