Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene.

Objective: To establish the diagnosis of complete androgen insensitivity syndrome (CAIS) in two patients with characteristic clinical and hormonal findings, relative family history in one of them, and unusual Müllerian remnants in the other.

Design: Case report.

Setting: Research laboratory in the Department of Medical Genetics at a university children's hospital.

Meningitis registry of hospitalized cases in children: epidemiological patterns of acute bacterial meningitis throughout a 32-year period.

Background: Bacterial meningitis remains a source of substantial morbidity and mortality in childhood. During the last decades gradual changes have been observed in the epidemiology of bacterial meningitis, related to the introduction of new polysaccharide and conjugate vaccines. The study presents an overview of the epidemiological patterns of acute bacterial meningitis in a tertiary children 's hospital during a 32-year period, using information from a disease registry.

Comparison of self-reported emotional and behavioural problems in adolescents from Greece and Finland.

Aim: To compare self-reported emotional and behavioural problems among Greek and Finnish adolescents.

Methods: Youth Self-Report scores were analysed for 3373 Greek adolescents aged 18 years and 7039 Finnish adolescents aged 15-16 years from the general population in both countries. The impact of country, gender, place of residence, socioeconomic status (SES) and family stability on the scores was evaluated.

Prevalence of recurrent complaints of pain among Greek schoolchildren and associated factors: a population-based study.

Aim: To determine the prevalence of recurrent complaints of pain (RCP) in Greek children, and to examine associations with socio-demographic characteristics and psychosocial factors.

Methods: Cross-sectional study comprising a nationally representative population of 8130 7-y-old Greek schoolchildren. Data were collected by mailed questionnaires (response rate 89%).

Short stature and dysmorphology associated with defects in the SHOX gene.

Since its discovery in 1997, knowledge about the SHOX gene ( Short stature HOmeoboX-containing gene) has rapidly advanced. Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for growth retardation in Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia and Turner syndrome. Furthermore, SHOX has a broad functional scope and leads to a variety of different morphological-skeletal stigmata associated with these syndromes.

First-trimester NRBC count in maternal circulation: correlation with doppler ultrasound studies.

This study aimed to determine whether the number of nucleated red blood cells (NRBCs) in maternal circulation during the first trimester of pregnancy could identify pregnancies that will have an anomalous Doppler in the second trimester. A total of 85 blood samples were obtained at 11-14 weeks of gestation with mean uterine arterial perfusion index >1.6, as noted by Doppler ultrasonography.

One-stage surgical procedure for congenital dislocation of the hip in older children. Long-term results.

The one-stage procedure described in this article, which has been used in children older than three years of age, is the method of choice in the treatment of late-diagnosed congenital dislocation of the hip. The present authors and their patients have been more than satisfied with the results of this procedure. With femoral shortening as the fundamental step, this method can be applied in high dislocations, as well as in cases of subluxation in which a pelvic osteotomy is indicated, to restore the depth of the acetabulum and to prevent undue pressure on the femoral head, which is the main cause of avascular necrosis, joint stiffness, and failures.