Search results for "perinatology"

The COMT val158met Polymorphism Is Associated with Early Pubertal Development, Height and Cortical Bone Mass in Girls

2005

Estrogens are involved in accretion of bone mass during puberty. Catechol-O-Methyltransferase (COMT) is involved in the degradation of estrogens. In this cross-sectional study we investigated associations between the COMT val158met polymorphism, which results in a 60-75% difference in enzyme activity between the val (high activity = H) and the met (low activity = L) variant, and skeletal phenotypes in 246 healthy pre/early pubertal girls. Girls with COMT(LL) were 5.4 cm taller than COMT(HH) girls. Dual x-ray absorptiometry showed higher values of bone mineral content (BMC), and larger areas of total body, femur and spine in COMT(LL). Cortical BMC, measured by peripheral quantitative compute…

Effects of enzyme replacement therapy with agalsidase alfa on glomerular filtration rate in patients with Fabry disease: preliminary data

2007

Progressive deposition of globotriaosylceramide results in severe complications involving the kidney, heart and brain in both hemizygous male and heterozygous female patients with Fabry disease. Analysis of renal data from FOS - the Fabry Outcome Survey - suggests that enzyme replacement therapy with agalsidase alfa can significantly improve renal function in patients with Fabry disease, at least in those with a mild decrease in glomerular filtration rate, and may also be able to slow down the natural decline in renal function in patients with a moderate reduction in glomerular filtration rate. Conclusion: Initial results from the large cohort of patients within FOS indicate that treatment …

Does Oxygen Concentration Used for Resuscitation Influence Outcome of Asphyxiated Newly Born Infants Treated With Hypothermia?

2006

To the Editor. — In a recent article, Rutherford et al1 describe the neuroprotective effect of whole-body cooling and selective head cooling in newly born infants suffering from hypoxic-ischemic encephalopathy. MRI studies of infants receiving either of these therapies showed a lesser degree of basal ganglia and thalamic lesions than nontreated controls, which correlates with a better neurologic prognosis. However, no description of the resuscitation maneuvers used is present in the article's “Patients and Methods” section. Thus, the authors do not include details on how many infants were given positive pressure ventilation and, especially, what concentration of oxygen was used, if oxygen s…

Otoacoustic emissions: a new method to diagnose hearing impairment in children.

1993

Otoacoustic emissions (OAEs) are epiphenomena of sensitive, amplifying processes during hearing which can be detected in persons with normal inner ear function. They originate from the cochlea and are interpreted as an energy leakage of cochlear processes, perhaps resulting from active outer hair cell movements. OAEs travel from the cochlea through the middle ear to the external auditory canal where they can be detected using sensitive miniature microphones. Transient evoked (TEOAE) tests allow to otoacoustic emissions non-invasively check the integrity of the cochlea. In the neonatal period, registration of OAEs can be accomplished during natural sleep. In infants and neonates TEOAEs can b…

Analgosedierung mit Fentanyl/Midazolam nach Korrektur angeborener Herzfehler

1995

Abstract There is no standard therapy in the management of postoperative pain control following corrective cardiac surgery of congenital heart disease. Assessment in the preverbal age is difficult. In a randomized study we compared a combined treatment of fentanyl and midazolam, given as continuous infusion versus single dose application. A pain assessment score was used to measure the effectiveness of analgosedation in addition to recording nurseries observations. Fentanyl and midazolam are an appropriate combination for postoperative pain treatment. Continuous application is considered to be more effective concerning basic anxiety, cumulative dosage and to avoid volume overload in infants…

Femoral, Direct, and Rare Inguinal Hernias in Children-An Update.

2017

AbstractPediatric surgeons deal with inguinal hernias on a regular basis. While most of these are straightforward in terms of diagnosis and therapy, occasionally what initially sounds like a routine case turns out to be a perplexing conundrum. This review discusses rare and unusual findings in the groin area that may mimic an indirect inguinal hernia, but are not. To provide good and effective care, pediatric surgeons should be readily familiar with the possible differential diagnosis of these entities, along with their specific management. In general, laparoscopy is one of the most useful interventions to discern unusual groin pathology from standard indirect inguinal hernias and in many c…

Estrogen receptor alpha polymorphism modifies the association between childhood exercise and bone mass: follow-up study.

2007

This follow-up study confirms our previous findings that the ER-α PvuII polymorphism (Pp) modulates the association between exercise and bone mass. The differences in bone properties of girls with consistently low physical activity (LLPA) and consistently high physical activity (HHPA) were evident only in those bearing the heterozygote ER-α genotype (Pp). In particular, areal bone mineral density of the total femur, bone mineral content and areal bone mineral density of the femoral neck, and bone mineral content and cortical thickness of the tibia shaft were significantly (p < .05) lower in the Pp girls with LLPA than in their HHPA counterparts. These findings might partly explain the ge…

Childhood Adversities and Later Attitudes towards Harmful Parenting Behaviour including Shaking in a German Population‐based Sample

2020

Transposition of the great arteries and aortopulmonary window in the same patient: clinical report and follow-up.

2002

Trasnposition of great arteries (TGA) Has been reported in combination with several congenital defects. Only one case of TGA has been described in association with aortopulmonary window (APW).

Continent urinary diversion and bladder augmentation in children: the Mainz pouch procedure.

1989

The formation of a bowel reservoir of large capacity at low pressure by using small and large bowel (ileocaecal segment) has proved reliable for achieving continent urinary diversion (n = 80), for bladder augmentation (n = 42) as well as for total bladder replacement (n = 24). Encouraged by the results we obtained in our adult patients, we have used this technique during the last 3.5 years in 29 children. Indications for urinary diversions in children have been: neurogenic bladder with diplegia (n = 8), bladder exstrophy (n = 2), traumatic loss of the bladder (n = 1), urogenital sinus (n = 1) and rhabdomyosarcoma of the prostate or bladder (n = 2). Bladder augmentation was indicated in 6 ch…