Congenital Cytomegalovirus: Prevalence in Buenos Aires City
The goal of this observational study is to recognise the prevalnce of congenital cytomegalovirus (cCMV) and to follow up positive babies until 12 months The main questions it aims to answer are: pevalence of cCMV, cCMV clinicals outcomes during the first year of life.
Participants will be screened with a salive swab for CMV DNA. Babies with positive results will be follow up for one year.
Testosterone Undecanoate Replacement Therapy in Boys With Pubertal Delay or Confirmed Hypogonadism
The absence of clinical signs of pubertal maturation, i.e. pubertal delay, is a relatively frequent reason for consultation in boys. In cases where it is necessary, the treatment to be established is the administration of testosterone with the aim of provoking the development of secondary sexual characteristics and optimizing growth.
Currently, the most commonly used treatment is empirical, with im testosterone enanthate at increasing doses (from 50 mg every 4 weeks up to 250 mg every 4 weeks) over a period of 2 to 3 years. The pharmacokinetic profile has not been described to see if it mimics the physiological progressive increase in testosterone levels occurring during normal puberty. In adults, testosterone enanthate shows supraphysiological serum testosterone the first week after, with a progressive drop to subphysiological levels in the fourth week.
Testosterone undecanoate is used in adults at a dose of 1000 mg im every 12 weeks, as equivalent to testosterone enanthate 250 mg every 4 weeks.Serum levels of testosterone show a profile within physiological ranges. Testosterone undecanoate im has not been tested in adolescents.
Hypothesis: The hypothesis of this work is that the initial administration of 1 ml (
250 mg) of testosterone undecanoate (1000 mg/4 ml) via im every 12 weeks for 6 months, with a progressive increase of 1 ml (
250 mg) every 6 months until reaching 4 ml (1000 mg) per dose is safe and effective in causing normal progression of secondary sex characteristics and growth spurt in boys with pubertal delay.
The primary specific objectives are to determine, in boys with pubertal delay: (a) if a treatment regimen of testosterone undecanoate (1000 mg/4 ml), with an initial dose of 250 mg every 12 weeks and subsequent increase up to 1000 mg every 12 weeks over 2 years (increasing 250 mg every 6 months) induces a progression in the development of secondary sexual characteristics and growth spurt commensurate with those of normal pubertal development, and (b) the safety of the administration of increasing doses of im testosterone undecanoate.
High or Low. Nasal Nitric Oxide Across Mutations in Primary Ciliary Dyskinesia. A Genotype/Phenotype Analysis of Nasal NO in Patients With PCD Within the European Reference Network (ERN)
Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by dysfunction of motile cilia associated with recurrent infections of the airways, laterality defects (Situs inversus totalis in about 50% of cases) and fertility problems. At present, mutations in > 45 genes associated with PCD and mucociliary clearance disorders have been identified, representing most likely two thirds of all human cases.
The aims of this study are:
Correlation between nasal NO levels and distinct PCD genotypes
Determination of further parameters potentially associated with nasal NO levels in genotyped PCD individuals
course of clinical manifestations (e.g. neonatal distress, infections, bronchiectasis)
diagnostic results (HVMA, TEM, IF)
lung function outcome (FVC, FEV1)
100 项与 Hospital de Niños Dr. Ricardo Gutierrez 相关的临床结果
0 项与 Hospital de Niños Dr. Ricardo Gutierrez 相关的专利(医药)
100 项与 Hospital de Niños Dr. Ricardo Gutierrez 相关的药物交易
100 项与 Hospital de Niños Dr. Ricardo Gutierrez 相关的转化医学