Diagnostic criteria in Pai syndrome: results of a case series and a literature review

Pai syndrome was originally described as the association of a midline cleft lip, midline facial polyps, and lipoma of the central nervous system. However, only a few patients present with the full triad, and most exhibit a wide spectrum of phenotypic variability. The aim of this study was to phenotypically delineate Pai syndrome and to propose new criteria to facilitate a clinical diagnosis in the future. The study cohort consisted of seven case patients and an additional 60 cases diagnosed with Pai syndrome identified in a literature review. Only 23 of 67 patients presented the full triad as historically described by Pai et al. (1987). A congenital facial midline skin mass was always encountered, particularly affecting the nasal structures (60/67). A midline facial cleft was reported in 45 of 67 patients and a pericallosal lipoma in 42 of 67 patients. The proposed definition of Pai syndrome is the association of (1) a congenital nasal and/or mediofrontal skin mass and/or a mid-anterior alveolar process polyp as a mandatory criterion, and at least one of the following criteria: (2) midline cleft lip and/or midline alveolar cleft, and/or (3) a pericallosal lipoma or interhemispheric lipoma in the case of corpus callosum dysgenesis.     

Neuroblastoma and bronchogenic cyst: a rare association.

A few of the known associations between paediatric cancer and congenital anomalies are attributable to contiguous-gene syndromes. Neuroblastoma (NB) has been linked with an excess of gastrointestinal malformations, but there is a significant scarcity of associated respiratory anomalies. We report on two children having an abdominal NB and a bronchogenic cyst diagnosed simultaneously and in different order of appearance. Both masses were removed in separated procedures, taking into account the priority and the time sequence of chemotherapy. Literature is reviewed, checking that the genetic basis for this association is supported by speculations about the oncogene RON.     

Emotion, attention, and the 'negativity bias', studied through event-related potentials.

Behavioral studies indicate that there exists a 'negativity bias' in the way surrounding events are processed. Particularly, it has been indicated that negative events elicit more rapid and more prominent responses than non-negative events. The objective of the present study was to explore the role of attention in relation to this negativity bias. Three groups of emotional pictures were used as stimuli: positive, negative and neutral. Event-related potentials were recorded from 35 subjects at F5, Fz, F6, C5, Cz, C6, P5, Pz and P6. Valence and arousal content of the stimulation was measured via a questionnaire. The experimental design ensured that subjects whose data were finally analyzed attended to the stimuli. ANOVAs showed that P200, an attention-related component, showed higher amplitudes and shorter latencies in response to negative stimuli than in response to positive stimuli. Additional partial correlation analyses indicated that P200 amplitude, but not latency, significantly associates (at frontal and central sites) with valence content of the stimulation. Therefore, due to the valence-related nature of the bias, it is concluded that intensity aspects (more than timing aspects) of the P200-related attentional processes are particularly involved in the negativity bias.     

SP-A1, SP-A2 and SP-D gene polymorphisms in severe acute respiratory syncytial infection in Chilean infants

Respiratory syncytial virus (RSV) is the principal pathogen that causes acute lower respiratory tract infection (ALRI) in infants. Severe RSV-ALRI has been associated with the host genetic susceptibility. To assess whether severe RSV disease in infants is associated with certain single nucleotide polymorphism (SNP) into the gene of SP-A1, SP-A2 and SP-D, a prospective study was performed among blood donors and RSV-infected infants aged < or = 6 months, considering their severity, according to a strict scoring system. Allele and genotype frequencies were compared using χ²-test. Association studies and haplotype analysis were tested by using Armitagës trend test and Unphased 3.0 program.A total of 118 RSV-infected infants and 104 blood donors were enrolled into the study; 59 infants had a severe respiratory disease, 34 children developed a moderate illness and 25 had a mild disease. There was no difference in the allelic and genotypic frequencies of SP-A1, but intragenic haplotypes showed significant differences among infected infants and blood donors (p = 0.0021). 1A⁰ variant of SP-A2 was the most frequent allele in all groups. Thr₁₁ allele of SP-D is significantly higher in RSV infants (p = 0.028), as given by its higher frequency in severe disease (p = 0.046). Heterozygous Thr₁₁/Met₁₁ was significantly more common in infected infants (p = 0.037), because it has higher frequency in critically ill children (p = 0.017). Thr₁₆₀ allele was significantly higher in severe infants compared with blood donors (p = 0.046) and infants with mild disease (p = 0.018). Thr₁₁-Thr₁₆₀-Ser₂₇₀ haplotype was significantly more common in RSV-infants, due to severe (p = 0.00000034) and moderate disease (p = 0.000009). Differences were also found among severe and mild disease (p = 0.026). Differences found with other authors, indicate the need for local studies to identify genetic biomarkers of severity.