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Biomedical subjects

F Paky

Publications and source records attributed to F Paky.

23 records · Page 2Linked to original sources
PubMed1983

[Inherited transcobalamin-II-deficiency: clinical, genetic studies and diagnosis using cultured fibroblasts].

A boy born healthy, developed gastrointestinal symptoms (diarrhea, vomiting, ulcerative stomatitis) and megaloblastic anaemia with thrombocytopenia and neutropenia at the age of five weeks. Serum levels of folate and cobalamin were normal, but there was cobalamin-mal absorption. In his serum apo-TC2 was not detectable and immunoreactive total TC2 was very low (10% of normal values). Cultured skin fibroblasts failed to secrete functioning TC2. Pharmacological amounts of parenteral Cyanocobalamin, administered regularly, led to hematological remission and normal development. Interruption of therapy was followed by relapse within a few weeks. A coexisting hypogammaglobulinemia did not respond to cobalamin therapy at the selected dose level. A family investigation of serum TC2 concentrations and the genetic TC2 variants in 7 persons of three generations yielded evidence of autosomal-recessive inheritance of a silent TC2 allele (TC2 QLFL SEA-like). Three persons with heterozygous deficiency were asymptomatic.

Cells, Cultured↗
PubMed1980

[Campomelic syndrome].

A case of campomelic syndrome, the first one in Austria, is described. This syndrome, known since 1971, is characterised by congenital shortening and bowing of long bones, with pretibial skin dimples, other abnormalities of bones, and spine prenatal dwarfism, kraniofacial dysmorphia and malformations of heart, kidney and brain. Death in the neonatal periode or in early infancy is the rule. An autosomal recessive mode of inheritance is discussed.

Abnormalities, Multiple↗
PubMedDate not supplied

Theophylline for infants with abnormal pneumographic results. A randomized double blind, placebo-controlled trial.

To evaluate the effectiveness of theophylline on density of central apnoeas and on incidence of periodic breathing; to compare the effect with age-related resolution of pneumogram abnormalities. Ninety-six infants (mean age 27.4 days; mean birth weight 2502 gm) with abnormal pneumographic results were randomly allocated to receive theophylline or placebo. The control group consisted of 94 healthy age- and weight-matched infants. After four weeks of treatment infants in the theophylline group had a significantly lower incidence (2.1% vs. 4.3%) and density of apnoeas > or = 15 sec (0.001 vs. 0.003). There were significantly less short apnoeas (> or = 6 sec.) in theophylline treated than in control infants (p < 0.01). The number of periodic breathing episodes showed a significant, presumably age-related reduction in both treatment groups. We conclude that theophylline is an effective agent in reducing the incidence and duration of apnoeas beyond what would be expected from age-related maturation of breathing.

Bronchodilator Agents↗
PubMedDate not supplied

[Obstructive apnea in premature and young infants].

The occurrence of obstructive apneas in premature and young infants is associated with a higher risk for SIDS. In order to assess the incidence of obstructive apnoeas in infants with different risk for SIDS pneumography was performed including the registration of the nasal air flow in 312 children: 69 preterm infants, 42 children after intensive care, one infant that later died of SIDS, 14 children after ALTE, 84 children after apnoeas observed by their parents, 25 siblings of SIDS-victims and 77 controls. Obstructive apnoeas were found in 24.6% of the preterm infants, in 28.5% of the children after intensive care, in 50% of the children after ALTE and in the one infant that later died of SIDS. Obstructive apnoeas however were registered only in 16.7% in the "apnoea-group", in 12% of the SIDS-siblings and in 11.7% of the controls. We therefore conclude that obstructive apnoeas which were observed more frequently in children with a higher risk for SIDS are of predictive value for the SIDS risk. Pneumography should therefore include the measurement of the nasal air flow. Home monitoring should be performed with devices that are able to assess bradycardias as indirect signs of obstructive apnoeas.

Airway Obstruction↗