Mutations in TAX1BP3 Cause Dilated Cardiomyopathy with Septo‐Optic Dysplasia

We describe a Bedouin family with a novel autosomal recessive syndrome characterized by dilated cardiomyopathy and septo‐optic dysplasia. Genetic analysis revealed a homozygous missense mutation in TAX1BP3, which encodes a small PDZ domain containing protein implicated in regulation of the Wnt/β‐catenin signaling pathway, as the causative mutation. The mutation affects a conserved residue located at the core of TAX1BP3 binding pocket and is predicted to impair the nature of a crucial hydrophobic patch, thereby interrupting the structure and stability of the protein, and its ability to interact with other proteins. TAX1BP3 is highly expressed in heart and brain and consistent with the clinical findings observed in our patients; a knockdown of TAX1BP3 causes elongation defects, enlarged pericard, and enlarged head structures in zebrafish embryos. Thus, we describe a new genetic disorder that expands the monogenic cardiomyopathy disease spectrum and suggests that TAX1BP3 is essential for heart and brain development.     

Effect of second-formant transitions on the perception of Hebrew voiced stop consonants

Studies in English, Dutch, Danish and French show that of the possible acoustic cues that listeners use for the perception of place of articulation, the transition of the second formant (F2) appears to be a very important cue. Although the Hebrew language shares some similarities with the above languages, one cannot assume that it either has similar acoustic-articulatory patterns or uses the same cues for perception. The general goal of the present study was, therefore, to investigate the effect of the starting frequency of F2 transition on the perception of place of articulation of Hebrew voiced plosives in initial position. Sixteen Hebrew-speaking young normal-hearing adults served as subjects. Stimuli were generated by re-synthesizing a naturally spoken /ba/ syllable into 17 test syllables by varying only the starting frequency of F2. Listeners heard each stimulus six times (total of 102) at random and were required to label the stimuli as /ba/, /da/ or /ga/. Results showed that varying only F2 transitions caused a perceptual change of place of articulation for all listeners. There was, however, large inter-subject variability in the perceived category: 75% of the subjects identified /ba/ and /da/, half of them also identified /ga/, and 25% of the subjects were able to identify /ba/ and /ga/ only. These data suggest that while F2 transitions are important for perceiving place of articulation of Hebrew voiced stops, they cannot predict the perceived category. It also supports the notion that normal-hearing listeners differ in the relative importance they assign to the cues for the perception of place of articulation.     

Copper and zinc blood levels among children with nonorganic failure to thrive

BACKGROUND AND AIMS: Copper and zinc deficiency are commonly reported among children with organic failure to thrive. In contrast, reports on copper and zinc status in children with non-organic failure to thrive are scarce. The goal of this study was to evaluate copper and zinc blood levels and nutritional intake among children with non-organic failure to thrive. METHODS: A study group of 32 children with non-organic failure to thrive were investigated and compared with 32 healthy controls. Each child had copper and zinc blood level measurements. In addition, the study group underwent evaluation of thyroid function, immunoglobulins, endomesial antibodies and xylose test. A dietary questionnaire that included a diet history and a 24-h dietary recall was administered to parents by a dietician. Weight for height, height for age and mean daily intake of calories, protein, copper and zinc were calculated. RESULTS: There were no significant differences between the two groups in either socioeconomic status or caloric, copper or zinc intake. Protein intake was significantly lower in the study group (P<0.0001). Plasma copper levels were within the normal range in both groups (P=0.3). Zinc plasma levels were significantly higher in the study group as compared to controls (P=0.03); however, they remained within the normal range in both groups. CONCLUSIONS: Children with non-organic failure to thrive can maintain plasma copper and zinc levels within normal range and similar to normal controls.     

Automatic segmentation of cardiac MRI cines validated for long axis views

Segmentation of cardiac magnetic resonance imaging is considered an important application in clinical practice. An automatic algorithm is proposed for segmentation of both endocardial and epicardial boundaries, in long-axis views. The data consisted of 126 patients, yielding 1008 traces. Estimated clinical parameters were highly correlated to gold standard measurements. The error between the automatic tracing and the gold standard was not significantly different than the error between two manual observers. In conclusion, a tool for segmenting the myocardial boundaries in the long-axis views is proposed, which works well, as demonstrated by the validation performed using a clinical dataset.     

The influence of inflammation on the polarization colors of collagen fibers in the wall of odontogenic keratocyst

Epithelial-mesenchymal interactions have been found to play a role in the pathogenesis of odontogenic keratocyst (OKC). In the present study we investigated the effect of inflammation in the OKC wall on the polarization colors of Picrosirius red-stained collagen fibers. 50 cases of OKC were selected and separated into two groups according to the inflammatory intensity: those with mild-to-moderate inflammation (Group A), and those with intense inflammation (Group B). The polarization colors of the collagen fibers were recorded separately for thick and thin fibers. Polarization colors of the thin fibers were in the green- to yellow spectrum, without significant differences between the groups. However, polarization colors of the thick fibers significantly differ between the groups. In Group B, the frequency of thick fibers with green birefringence decreased significantly, whereas fibers with red polarization colors increased in frequency (4.6% and 44%, respectively) compared with Group A (12.3% and 23.6%, respectively). It can than be concluded that inflammation has an impact on the packing of collagen fibers in the connective tissue wall of OKC as reflected by their birefringence colors under polarized light. In the presence of dense inflammation, the percentage of thick fibers with green birefringence decreases, with an increase in thick fibers with red birefringence which appeared more packed.