Cytokine gene polymorphism associations with congenital cytomegalovirus infection and sensorineural hearing loss.

Cytomegalovirus (CMV) is the most common viral agent of congenital infections and a leading nongenetic cause of sensorineural hearing loss (SNHL). The host immunologic factors that render a developing foetus prone to intrauterine CMV infection and development of hearing loss are unknown. The aim of this study was to assess the potential associations between the polymorphisms within cytokine and cytokine receptors genes, and the risk of congenital CMV infection, and the hearing outcome. A panel of 11 candidate single nucleotide polymorphisms (SNPs): TNF rs1799964, TNF rs1800629, TNFRSF1A rs4149570, IL1B rs16944, IL1B rs1143634, IL10 rs1800896, IL10RA rs4252279, IL12B rs3212227, CCL2 rs1024611, CCL2 rs13900, CCR5 rs333 was genotyped in 470 infants (72 with confirmed intrauterine CMV infection and 398 uninfected controls), and related to congenital CMV infection, and the outcome. In multivariate analysis, the IL1B rs16944 TT and TNF rs1799964 TC genotypes were significantly associated with intrauterine CMV infection (aOR = 2.32; 95% CI, 1.11-4.89; p = 0.032, and aOR = 2.17, 95% CI, 1.25-3.77; p = 0.007, respectively). Twenty-two out of 72 congenitally infected newborns had confirmed SNHL. Carriers of CT or TT genotype of CCL2 rs13900 had increased risk of hearing loss at birth and at 6 months of age (aOR = 3.59; p = 0.028 and aOR = 4.10; p = 0.039, respectively). This is the first study to report an association between SNPs in IL1B, TNF, and CCL2, and susceptibility to congenital CMV infection (IL1B and TNF) and SNHL (CCL2).

[Use of the PCR technique for diagnosis of symptomatic congenital toxoplasmosis based on own observations]. / Zastosowanie techniki PCR w diagnostyce objawowej toksoplazmozy wrodzonej w badaniach wlasnych.

UNLABELLED: The aim of our study was to determine the usefulness of PCR technique in postnatal diagnosis of congenital toxoplasmosis in 17 infants aged from 1 week to 10 months. In 13 cases the diagnosis was established. The diagnostic procedures involved: clinical examinations, serological tests, nested-PCR method and neuroimaging examinations. RESULTS: In almost all children (except one) a high level of toxoplasmatic IgG antibodies was found; in 1/3 we identified antibodies IgM and IgA. In 14 cases the PCR test from CSF was positive. In 4 infants the suspicion of congenital toxoplasmosis was ruled out; in 2 of them PCR from CSF was negative, in 2 - a false positive result was stated. CONCLUSIONS: PCR is a valuable technique for diagnosis of congenital toxoplasmosis. Because of the possibility of false positive and negative results - it should be combined with other laboratory methods.

Risk factors for cerebral palsy in very low-birthweight infants in the 1980s and 1990s.

One-hundred twenty-nine very low-birthweight infants were treated in Newborn and Infant Care Department of Children's Memorial Health Institute between 1985 and 1994; 89 were taken to prospective neurodevelopmental care. The newborns were divided into two groups. Group I had 38 preterm infants born from 1985 to 1989 and followed up at 7 to 11 years of age. Group II had 51 very low-birthweight infants treated from 1990 to 1994 and followed up at 2 to 5 years of age. Complicated, multiple pregnancy, normal delivery, and extremely low birthweight were significantly more frequent in group II. Very low-birthweight infants were frequently born by cesarean section in severe asphyxia. Only four (7.8%) newborns received surfactant therapy. From 1990 to 1994, respiratory distress syndrome III and IV, and a longer respiratotherapy period were significantly more frequent. From 1985 to 1994, the frequency of sepsis, periventricular leukomalacia, and normal ultrasonography was constant. Intraventricular hemorrhage I, II, and IV were frequently present in the 1990s, and intraventricular hemorrhage III was frequent in the 1980s. Cerebral palsy was diagnosed in 11 (28.9%) children in group I and 18 (35.2%) in group II (not statistically different). Multiple and complicated pregnancy, cesarean section, severe asphyxia, and respiratory distress syndrome did not increase the risk of cerebral palsy in very low-birthweight infants. Periventricular leukomalacia has a more predictive value for cerebral palsy in these infants than did intraventricular hemorrhage.

[Chronic, infantile, neurologic, cutaneous and articular syndrome (CINCA) in an infant]. / Syndrome chronique, infantile, neurologique, cutané et articulaire (CINCA) chez un nourrisson.

BACKGROUND: CINCA syndrome is a clinical syndrome of unclear etiology, characterized by a chronic multi-organ inflammatory process unsusceptible to treatment. CASE REPORT: An 18-month-old boy was admitted because he suffered, since the age of 2 months, from cutaneous, articular and neurological changes, lymphadenopathy, hepatosplenomegaly, choroiditis and psychosomatic development retardation. These clinical symptoms were unsusceptible to anti-inflammatory and antihistaminic drugs. Rehabilitation was not effective either. CONCLUSION: A long-term clinical observation is required before sustained multi-organ changes beginning in early childhood and exclusion of other chronic inflammatory diseases enable the diagnosis of CINCA syndrome.

The C3 plant Flaveria pringlei contains a plastidic NADP-malic enzyme which is orthologous to the C4 isoform of the C4 plant F. trinervia.

To study the molecular evolution of NADP-dependent malic enzyme (NADP-ME) in the genus Flaveria a leaf-specific cDNA library of the C3 plant F. pringlei was screened for the presence of sequences homologous to the C4 isoform gene (named modA) of the C4 plant F. trinervia. The cDNAs isolated contained varying numbers of identical restriction fragments suggesting that they were derived from a single gene. This was supported by Southern hybridisation experiments with genomic DNA from F. trinervia and F. pringlei. Nucleotide sequence analysis of a full-size clone identified the presence of a typical plastidic transit peptide and revealed that the mature modA proteins of F. trinervia (C4) and F. pringlei (C3) are 90% similar. These findings indicate that C3 plants, like C4 species, possess a plastidic isoform of NADP-ME and that the modA genes of the two species represent orthologous genes. Northern analyses showed that modA transcripts accumulate to similar levels in leaves, stems and roots of F. pringlei. The expression of this gene in F. pringlei thus appears to be rather constitutive. In contrast, the modA gene of F. trinervia is abundantly expressed in leaves, but maintains its expression in stems and roots. It has to be concluded from these data that the leaf-specific increase in the expression level was a key step which was taken during the evolution of the C4 isoform modA gene starting from a C3 ancestral gene.

[Clinical characteristics of infections with cytomegalovirus in infants from personal observations]. / Charakterystyka kliniczna zakazen wirusem cytomegalii u niemowlat na podstawie wlasnych obserwacji.

An infection with cytomegaly virus had been diagnosed in 13 infants (including 4 neonates examined up to 2 weeks of life) out of 960 infants hospitalized within 3 years. Clinical examination most frequently revealed hepato- and splenomegaly, pneumonia and neurological disorders, and during a further stage of the clinical course psychomotoric retardation was noted in 7 out of 13 infants, and hearing loss in 5 out of 13 infants. A specific immunoglobulin G preparation (Cytotect) has been successfully used in all children, producing recovery or clinical improvement together with serologic improvement.

[Coexistence of Toxoplasma gondii and Cytomegalovirus infections in infants]. / Wspóøistnienie zarazen pierwotniakiem Toxoplasma gondii i wirusem cytomegalii u niemowlat.

Coexistence of Toxoplasma gondii and Cytomegalovirus infection in 3 dystrophic newborns is discussed. Also the not very characteristic course of the infection is stressed.