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Biomedical subjects

T Karpathios

Publications and source records attributed to T Karpathios.

66 records · Page 4Linked to original sources
PubMed1978

Increased urinary catecholamines in an infant with the diencephalic syndrome.

In an infant of 15 months with the diencephalic syndrome, urinary excretion of norepinephrine was moderately raised and epinephrine greatly so. It is suggested that catecholamine secretion may be due to sympathetic stimulation at the level of the diencephalon, by a space-occupying lesion pressing on the thalamohypothalamic pathway. Some of the symptoms of the diencephalic syndrome such as euphoria, irritability, skin pallor, and hypertension may be the result of catecholamine secretion.

Brain Neoplasms↗
PubMed1974

Defective growth hormone secretion in primary microcephaly.

The 24 hr variations of plasma growth hormone (GH) and/or GH secretion provoked by oral glucose load or by insulin-induced hypoglycemia were studied in five microcephalic children. Low levels of GH and, especially, complete lack of secretory episodes were detected in three of the five children, two of whom were brothers. GH deficiency may constitute the principal or a contributing factor of impaired growth in some microcephalic children. A possible association between the cerebral abnomality and the pituitary hypofunction is suggested. An analogy is made between the present cases and the neuroendocrine complexes reported as Kallmann's and de Morsier's syndromes, respectively.

Child↗
PubMedDate not supplied

Haplotype and mutation analysis in Greek patients with Wilson disease.

In this study, we report the results of haplotype and mutation analysis of the ATP7B gene in Wilson disease (WD) patients of Greek origin. We have analysed 25 WD families and two single patients and characterised 94% of the WD chromosomes investigated. We have found 12 different molecular defects (three frameshifts, two splice site, two nonsense, five missense mutations), four of which are novel. Five of the mutations are widely prevalent accounting for 74% of the WD chromosomes analysed. These results may enable preclinical diagnosis in the large majority of WD patients of Greek descent, thereby improving genetic counselling and disease management.

Adolescent↗
PubMedDate not supplied

Polychondritis associated with Schönlein-Henoch purpura: report of a case.

A case of polychondritis in a psoriatic boy is reported, involving purpura, arthritis which included the costochondral joints, and swelling of his scrotum, eyelids and pinnae. Many of his clinical manifestations showed an overlapping presentation with Schönlein-Henoch purpura (SHP).

Adolescent↗