Bisphenol A effect on glutathione synthesis and recycling in testicular Sertoli cells.

Background And Objective: Controversial effects of bisphenol A (BPA) have been reported on testicular function. These differences might reflect dissimilar exposure conditions. Dose responses to toxicants may be non-linear, e.

Emergence of intratreatment resistance to oseltamivir in pandemic influenza A H1N1 2009 virus.

Background: Pandemic influenza A H1N1 2009 virus presents a new challenge to health authorities and communities worldwide. In Argentina, the outbreak was at its peak by the end of June 2009, during the southern winter. A systematic analysis of samples from patients with pandemic H1N1 2009 studied in our laboratory (Virology Laboratory, Hospital de Niños R Gutiérrez, Buenos Aires, Argentina) detected two patients presenting intratreatment emergence of the H275Y neuraminidase mutation, which confers resistance to oseltamivir.

VHL disease.

von Hippel-Lindau disease (VHL) disease increases susceptibility to several malignancies, including renal cell carcinoma, haemangioblastomas of the central nervous system or retina and phaeochromocytomas. The VHL tumour suppressor gene, responsible for the disease, encodes for a major regulator of the hypoxic response by targeting the transcription factor hypoxia inducible factor (HIF) for degradation. In this review, we present a synopsis of clinical features of the disease and emphasise unique aspects of VHL syndrome in the paediatric population.

Deficiency of the insulin-like growth factor-binding protein acid-labile subunit (ALS) of the circulating ternary complex in children with short stature.

The acid-labile subunit (ALS) protein is a key component of the circulating 150-kDa IGF ternary complex. The main role of ALS is the extension of IGF-I half life by protecting it from degradation and preventing the passage of IGF-I to the extravascular compartment. In humans, complete ALS deficiency is characterized by severe reduction of IGF-I and IGFBP-3 that remain low after GH treatment, associated with mild growth retardation, much less pronounced than the IGF-I deficit.

Basal follicle-stimulating hormone and peak gonadotropin levels after gonadotropin-releasing hormone infusion show high diagnostic accuracy in boys with suspicion of hypogonadotropic hypogonadism.

Context: Differential diagnosis between hypogonadotropic hypogonadism (HH) and constitutional delay of puberty in boys is challenging. Most tests use an acute GnRH stimulus, allowing only the release of previously synthesized gonadotropins. A constant GnRH infusion, inducing de novo gonadotropin synthesis, may allow a better discrimination.

Critically ill infants and children with influenza A (H1N1) in pediatric intensive care units in Argentina.

Objective: To determine the epidemiological features, course, and outcomes of critically ill pediatric patients with Influenza A (H1N1) virus.

Design: Prospective cohort of children in pediatric intensive care units (PICUs) due to Influenza A (H1N1) virus infection.

Setting: Seventeen medical-surgical PICUs in tertiary care hospital in Argentina.

Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.

The majority of insulin-like growth factor (IGF)-I and IGF-II circulate in the serum as a complex with the insulin-like growth factor binding protein (IGFBP)-3 or IGFBP-5, and an acid-labile subunit (ALS). The function of ALS is to prolong the half-life of the IGF-I-IGFBP-3/IGFBP-5 binary complexes. Fourteen different mutations of the human IGFALS gene have been identified in 17 patients, suggesting that ALS deficiency may be prevalent in a subset of patients with extraordinarily low serum levels of IGF-I and IGFBP-3 that remain abnormally low upon growth hormone stimulation.

Phylogenetic analysis of rubella viruses isolated in 2008 outbreak in Argentina.

Background: A rubella outbreak was recorded in Buenos Aires during 2008.

Objectives: The objective of this communication is to present the genetic and phylogenetic analyses of wild-type RUBV circulating in Buenos Aires during the 2008 outbreak.

Study Design: Throat swab samples collected from patients diagnosed with rubella between June 2008 and December 2008 were inoculated in cell culture and 23 isolates were sequenced.

Ontogeny of the androgen receptor expression in the fetal and postnatal testis: its relevance on Sertoli cell maturation and the onset of adult spermatogenesis.

From fetal life to adulthood, the testis evolves through maturational phases showing specific morphologic and functional features in its different compartments. The seminiferous cords contain Sertoli and germ cells, surrounded by peritubular cells, and the interstitial tissue contains Leydig cells and connective tissue. Sertoli cells secrete anti-Müllerian hormone (AMH), whereas Leydig cells secrete androgens.

Regulation of inhibin/activin expression in rat early antral follicles.

The aim of the present study was to determine the endocrine activity of cultured early antral follicles (EAF) isolated from prepubertal diethylstilbestrol-treated rats. The effect of steroidogenic substrates and FSH on steroid, inhibin A and B, Pro-alphaC and activin A production was evaluated. Androsterone was the predominant steroid produced by EAF.

Carbohydrate complexity and proportion of serum FSH isoforms reflect pituitary-ovarian activity in perimenopausal women and depot medroxyprogesterone acetate users.

Background: FSH is synthesized and secreted in multiple glycosylation variants with different oligosaccharide structures; the endocrine milieu regulates the composition of FSH carbohydrate moiety.

Objectives: To characterize serum FSH isoforms according to their sialic acid content and oligosaccharide complexity in regularly menstruating women and in depot medroxyprogesterone acetate (DMPA) users during the menopausal transition. Subjects and methods Ten regularly menstruating perimenopausal women aged 45-52, with mid-follicular phase FSH levels < or =10 IU/l and 10 regularly menstruating women, aged 20-39, were included.

Physiological androgen insensitivity of the fetal, neonatal, and early infantile testis is explained by the ontogeny of the androgen receptor expression in Sertoli cells.

Context: Although gonadotropins and testosterone are high in the fetal/early postnatal periods, Sertoli cells remain immature and spermatogenesis does not progress. We hypothesized that Sertoli cells do not respond to testosterone because they do not express the androgen receptor.

Objective: The objective of the study was to describe the precise ontogeny of androgen receptor expression in the human testis from fetal life through adulthood.

Possible autocrine enkephalin regulation of catecholamine release in human pheochromocytoma cells.

Aims: Pheochromocytomas are catecholamine-secreting tumors that also synthesize and secrete several neuropeptides, including opioids. A negative regulation of catecholamine secretion by opioids has been postulated in chromaffin cells. However, results obtained so far are contradictory when referred to human pheochromocytomas.

Neonatal screening for congenital adrenal hyperplasia: experience and results in Argentina.

Aim: To report the experience of the neonatal screening program for congenital adrenal hyperplasia (CAH) carried out in Buenos Aires, Argentina, from 1997 to 2006.

Population And Methods: 17-Hydroxyprogesterone (17OHP) was measured with an immunofluorometric assay in filter paper blood samples collected at neonatal maternity discharge. Filter paper blood levels <40 nmol/l were considered normal.

Predictive value of anatomical findings and karyotype analysis in the diagnosis of patients with disorders of sexual development.

We assessed the predictive value of anatomical findings and karyotype for establishing a diagnostic orientation in patients with disorders of sex development (DSD). We performed a retrospective chart analysis of 228 patients, grouped into 4 categories: 46,XX DSD, non-dysgenetic testicular DSD, dysgenetic testicular DSD and ovotesticular DSD. Degree of virilisation, presence of vagina, presence of palpable gonads, size of gonads and a plain karyotype was available for all cases.

Essential infantile esotropia in neurologically impaired pediatric patients: is botulinum toxin better primary treatment than surgery?

Unlabelled: A prospective study was performed over a 10 year period on 25 children with infantile esotropia and neurological problems to answer this question. From November 1996 to March 2006 they were treated with injections of botulinum toxin (Botox) of both medial rectus extraocular muscles. Mean age was 26.

FSH and bFGF stimulate the production of glutathione in cultured rat Sertoli cells.

Migration of developing germ cells from the basal to the adluminal compartment of the seminiferous epithelium requires extensive tissue restructuring, resulting in the production of reactive oxygen species. Sertoli cells are involved in this process. Glutathione (GSH), produced by Sertoli cells, has an essential role in cell protection against oxidative stress.

Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism.

Objective: X-linked adrenal hypoplasia congenita (AHC, OMIM 300200) due to mutations in the DAX-1 gene is frequently associated to hypogonadotrophic hypogonadism (HHG, OMIM 238320). Clinical variants with delayed-onset have been recognized. The objective of this study is to assess Sertoli cell function throughout pubertal development in patients with childhood-onset AHC due to stop mutations in the DAX-1 gene.

Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.

Context: IGF-I deficiency may result from impairment of GH secretion or action, or from defects in IGF-I synthesis, transport, or action. Complete deficiency of the acid-labile subunit (ALS), previously described in two male patients, the only known inherited alteration in IGF-I transport, is characterized by severe circulating IGF-I and IGF binding protein (IGFBP)-3 deficiency with only mild growth retardation.

Objective: Our objective was to study the characterization, at biochemical and molecular levels, of the cause for severe circulating IGF-I and IGFBP-3 deficiency in a male patient with mild growth retardation.

Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome.

McCune-Albright syndrome (MAS), usually presenting with polyostotic bone dysplasia, café-au-lait skin lesions and sexual precocity, results from a somatic activating mutation of the GNAS1 gene, which encodes the Gs-alpha protein involved in signalling of several G-protein-coupled receptors. The clinical spectrum depends on tissue distribution of mutant-bearing cells. Sexual precocity has been ascribed to the occurrence of a mutant GNAS1 allele in the gonadal anlage, from which all somatic cells of the differentiated gonads arise.

[Congenital Chagas disease: experience in the Hospital de Niños, Ricardo Gutiérrez, Buenos Aires, Argentina].

Epidemiological, clinical, diagnostic, and therapeutic data from children who were born to mothers infected with T. cruzi who came to our hospital are presented. In addition, we exhibit the preliminary results of a technique that detects the anti F2/3 antibodies: these would be able to confirm the cure earlier than conventional serology.

Low risk of impaired testicular Sertoli and Leydig cell functions in boys with isolated hypospadias.

Context: Isolated hypospadias may result from impaired testicular function or androgen end-organ defects or, alternatively, from hormone-independent abnormalities of morphogenetic events responsible for urethral seam.

Objective: The objective was to evaluate the relative prevalence of hormone-dependent etiologies in boys with isolated hypospadias.

Design, Patients, And Main Outcome Measures: We studied endocrine testicular capacity in 61 patients with isolated hypospadias and 28 with hypospadias associated with micropenis, cryptorchidism, or ambiguous genitalia.

Detection of interleukin 10 in cerebrospinal fluid of patients with subacute sclerosing panencephalitis.

Subacute sclerosing panencephalitis (SSPE) is a neurodegenerative disorder due to persistent measles virus infection, with high level of measles-specific antibodies in cerebrospinal fluid (CSF). To analyze whether such response arises from a TH2-biased response, the authors determined TH1 (interferon [IFN]-gamma) and TH2 (interleukin [IL]-4 and IL-10) cytokines in CSF, taken at diagnosis, of eight SSPE patients (median age, 57.5 month, range 42 to 76 months).