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Biomedical subjects

S Beer

Publications and source records attributed to S Beer.

83 records · Page 5Linked to original sources

Trisomy 13 mosaic presenting as cleft lip and palate.

A mosaic trisomy 13 presenting as a case of cleft lip and palate in the newborn is described. However, when the child was admitted to hospital at the age of 6 weeks because of failure to gain weight and a malformation of the great vessels was demonstrated, cytogenetic studies were carried out. The diagnosis of mosaic trisomy 13 (90% normal, 10% trisomic) was established from a leukocyte culture. Since, occasionally, mosaic trisomy 13 may mimic cleft lip and palate in the newborn, cytogenetic studies are indicated in the presence of any additional anomaly.

Chromosomes, Human, 13-15↗

Suaeda monoica, a C(4) Plant without Typical Bundle Sheaths.

Suaeda monoica Forssk. ex J. F. Gmel was found to possess the C(4) pathway of photosynthesis. The succulent leaves of Suaeda lack a green bundle sheath formation but have a layer of chlorenchyma, containing large and centripetally arranged chloroplasts, which surrounds the water tissue. We suggest that the proximity of a chlorenchymatous cell layer to the vascular bundles is not necessary for the operation of the C(4) pathway.

Journal Article↗

Familial primary vesicoureteral reflux.

Two families with all children affected by primary vesicoureteral reflux are reported. Both sets of parents were examined and only in one family the mother was also affected by unilateral reflux. This congenital lesion has only recently been recognized as a common disease, but because diagnosis depends on voiding cystography, it is not made until the child or adult becomes symptomatic or presents with end-stage renal disease. As most cases are sporadic, a multiple factorial mode of inheritance is most probable, but an autosomal dominant or recessive gene cannot be excluded as the cause of the disease in some families. It is recommended that all first degree relatives of the patients should be investigated, in order to detect asymptomatic cases of this condition, which is likely to cause progressive renal damage and may have fatal termination due to renal failure.

Child↗

Severe traumatic brain injury--epidemiology and outcome after 3 years.

In 1987 80 patients living in the region of St Gallen, Switzerland, suffered from head injury with neuroradiologically visible intracranial lesions (annual incidence 20/100,000). One-quarter died during the first month after injury, and six others during the following 3 years. All except three of the 45 survivors interviewed and examined after 3 years had symptoms and functional impairment related to injury: neuropsychological (78%), behavioural (58%), neurological (53%), and related to bone or soft tissue trauma (36%). Half of the patients suffered from headache. Although these impairments caused little disability--only 5% of the patients had a Glasgow Outcome Score of 2 or 3--handicap in social life was reported in half of them and only 13 of 29 working before the accident were able to resume their former work. The consequences for long-term management of these patients are discussed.

Adolescent↗

What?! No meat?!

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Adolescent↗