Search results for "perinatology"

Early auditory evoked potentials: developmental aspects and validity in neuropaediatric and audiologic disorders.

1984

Auditory evoked potentials and in this context especially five waves in the first 10 ms (early auditory evoked potentials = EAEP) are a diagnostic aid in topodiagnosis of posterior fossa diseases. This is due to waves I to V which arise along the acoustic nerve and in brain stem structures such as medulla, pons and mid-brain. Besides an indication about the site of a lesion in the posterior fossa, wave V allows an objective threshold determination. The present results were gained in normal children aged 1-3 years and in children with neuropaediatric and audiologic disorders.

Cerebral and spinal MR-findings in patients with postrepair myelomeningocele

1990

In 114 patients with postrepair myelomeningocele MRI of the spine was performed. Tethered cord (89%) and associated malformations (syrinx, lipoma etc.) (33%) were the most important findings. Additional MRI scans of the head (44 patients) revealed numerous further anomalies. Arnold Chiari malformation was found in 76% of the patients (ACM I: 32%, ACM II: 44%). In the ACM II group compression of lower cranial nerves, brain stem, and cerebellum can lead to considerable neurologic symptoms. Therefore in patients with progressive neurologic dysfunction a complete investigation of the whole spine and brain is necessary. MRI proves to be the diagnostic procedure of choice in patients with dysraph…

Evaluation of sexual function in females with exstrophy-epispadias-complex: a survey of the multicenter German CURE-Net

2016

Standardized knowledge about genital function in adult female individuals with exstrophy-epispadias complex (EEC) is scarce. The aim of this study was to investigate sexual function using the standardized Female Sexual Function Index (FSFI), and to assess the influence of bladder and vaginal reconstruction and the presence of incontinence on FSFI results.Sixty-one females (aged ≥18 years) recruited by the German multicenter network for congenital uro-rectal malformations (CURE-Net) were asked to complete the FSFI and a self-designed semi-structured questionnaire assessing comprehensive medical data, gynecological, and psychosocial items. Twenty-one eligible females (34%) returned both quest…

Bile salt-stimulated lipase activity in human colostrum from mothers of infants of different gestational age and birthweight.

1987

. The bile salt-stimulated lipase (BSSL) activity was measured in milk collected at 3–4 days postpartum (colostrum) from 36 mothers divided into three groups according to gestational age and birthweight of their infants. BSSL activity changed with the length of gestation. Preterm colostrum presented a mean activity significantly higher than the term groups (small-for-gestational age and appropriate-for-gestational age) which had similar values. The ratio of BSSL activity to the estimated fat content was 6.33 in colostrum of mothers who delivered preterm and 4.20 in colostrum of both groups of term mothers. These data suggest that preterm colostrum has a higher fat digesting potential than t…

Public health nurses' approaches to early childhood physical activity in Finland.

2009

This study was conducted using five focus groups with 24 public health nurses from regional child health clinics in order to explore health professionals' perceptions concerning physical activity. Participants were professionally experienced (mean 13.9 years), female (mean 46.2 years) nurses with some training in health-enhancing physical activity. Frame analysis of verbatim transcripts resulted in four frames: the environmental frame, the family frame, the natural frame and the wellbeing and health frame. The importance of physical and social environment, especially the role of parents, was highlighted as determinants of physical activity. Furthermore, the natural characteristics of physi…

Expression of aquaporins early in human pregnancy

2011

Abstract Background Aquaporins (AQPs) constitute a family of channel proteins implicated in transmembrane water transport. Thirteen different AQPs (AQP0–12) have been described but their precise biologic function still remains unclear. AQPs 1, 3, 4, 8, and 9 expression has been described in human chorion, amnion and placenta; however, AQP4 is the only that has been identified in the first trimester of human pregnancy. Objective To assess multiplicity of AQPs expression from 10th to 14th week gestation. Population and methods Chorionic villi samples (CVS) collected in pregnant women for prenatal diagnosis were analysed by real time-PCR to assess cDNA expression of AQPs 1, 2, 3, 4, 5, 6, 7, 8…

A further patient with genitopatellar syndrome requiring multidisciplinary management.

2020

Endo-neuro-sonography: principles and 3-D technique

1997

To evaluate the usefulness of transendoscopic sonography we studied two new sono probes 6 F in diameter in 17 fresh specimens. We saw precise imaging of well-known anatomical structures and also gained an additional dimension in endoscopy, as the sono adds to the endo-view a transverse scan like a mini-CT at the tip of the probe. We also experienced the navigation characteristic of this imaging technique, both in real time and on line. Some 3-D reconstructions of the ventricular system were examined. The equipment has been used in clinical practice and must now be adapted for neurosurgery.

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

2004

Mucopolysaccharidosis IVA (MPS IVA), a progressive lysosomal storage disease, causes skeletal dysplasia through excessive storage of keratan sulfate (KS). We developed an ELISA-sandwich assay that used a MAb specific to KS. Forty-five blood and 59 urine specimens from MPS IVA patients (ages 1–65 y) were analyzed to determine whether KS concentration is a suitable marker for early diagnosis and longitudinal assessment of disease severity. Blood specimens were obtained from patients categorized as phenotypically severe (n = 36) and milder (n = 9). Urine specimens were also analyzed from patients categorized as severe (n = 56) and milder (n = 12), respectively. Blood KS levels (101–1525 ng/mL)…

A novel L1CAM mutation in a fetus detected by prenatal diagnosis

2010

X-linked hydrocephalus is due to mutations in the L1 neuronal cell adhesion molecule (L1CAM) gene. L1 protein plays a key role in neurite outgrowth, axonal guidance, and pathfinding during the development of the nervous system. We report on a familial case diagnosed by prenatal ultrasonographic examination, with cerebellar hypoplasia, agenesis of the corpus callosum, and the bilateral overlapping of the second and third fingers of the hand. Sequencing of the L1CAM gene showed a novel missense mutation in exon 14: transition of a guanine to cytosine at position 1777 (c.1777G > C), which led to an amino acid change of alanine to proline at position 593 (Ala593Pro) in the sixth immunoglobulin …