Cleft lip, cleft palate, and velopharyngeal insufficiency

This article provides an introduction to the anatomical and clinical features of the primary deformities associated with unilateral cleft lip-cleft palate, bilateral cleft lip-cleft palate, and cleft palate. The diagnosis and management of secondary velopharyngeal insufficiency are discussed. The accompanying videos demonstrate the features of the cleft lip nasal deformities and reliable surgical techniques for unilateral cleft lip repair, bilateral cleft lip repair, and radical intravelar veloplasty.     

Cleft lip with and without cleft palate in blacks: an analysis of 81 patients

The clinical records of 81 black patients with cleft lip with or without cleft palate were reviewed. Four had midline clefts. Of the remaining 77, 45 were unilateral (left 28, right 17), with 11 of these involving only the primary palate. Bilateral clefts were seen in 32, with only 2 involving just the primary palate. Males and females were approximately equal in number. Two were associated with EEC syndrome. Other congenital anomalies were seen in 9 patients. The family history was positive for clefts in 5 of 65 patients (7.7 percent). A review of 255 white patients with cleft lip with or without cleft palate revealed a positive family history in 94 (37 percent). The difference was statistically significant.     

Cleft lip and palate: understanding genetic and environmental influences

Clefts of the lip and/or palate (CLP) are common birth defects of complex aetiology. CLP can occur in isolation or as part of a broad range of chromosomal, Mendelian or teratogenic syndromes. Although there has been marked progress in identifying genetic and environmental triggers for syndromic CLP, the aetiology of the more common non-syndromic (isolated) forms remains poorly characterized. Recently, using a combination of epidemiology, careful phenotyping, genome-wide association studies and analysis of animal models, several distinct genetic and environmental risk factors have been identified and confirmed for non-syndromic CLP. These findings have advanced our understanding of developmental biology and created new opportunities for clinical translational research.     

SpA: web-accessible spectratype analysis: data management, statistical analysis and visualization

SUMMARY: SpA is a web-accessible system for the management, visualization and statistical analysis of T-cell receptor spectratype data. Users upload data from their spectratype analyzers to SpA, which saves the raw data and user-defined supplementary covariates to a secure database. The statistical engine performs several data analyses and statistical summaries. The visualization engine displays spectratype histograms in a Java applet and in an image file suitable for download. All of these results are also saved to the database and remain accessible to the user. Additional statistical tools specific to the analysis of multiple spectratypes are also available through the SpA interface. AVAILABILITY: The service is freely accessible via the web at http://www.duke.edu/~kepler/spa.html. Additional technical support and specialized statistical analysis and consultation are available by arrangement with the authors and, depending on the service requested, may be subject to fee.     

Comparative proteomic analysis of planktonic and immobilized Pseudomonas aeruginosa cells: a multivariate statistical approach

The protein maps of Pseudomonas aeruginosa cells from two natural (attached) and one artificial (gel-entrapped) immobilized-cell (IC) systems, together with their free (suspended) counterparts, were compared after incubation for 18 or 48 h in a minimal salt medium. Principal component analysis (PCA) was used to interpret the variations in protein spot densities that were observed on electropherogram obtained by two-dimensional electrophoresis (2-DE). PCA of the 2-DE data, a matrix of 933 rows (observations, i.e., spot density values) and 12 columns (variables, i.e., incubation conditions), in which observations were standardized horizontally, extracted four principal components (PCs) accounting for 78.75% of the variability in the protein expression profiles. PC1 opposed the two modes of growth (planktonic and immobilized) while PC2 discriminated between the incubation times of free cell cultures. The incubation conditions of ICs, including the immobilization procedure (entrapment vs attachment) and the nature of the biofilm substratum, were fairly separated in PC3xPC4. The dependence of the protein patterns on the cell immobilization process was further illustrated by the identification of a number of peptides whose amount remained unchanged or was altered in ICs compared to free bacteria. These results reinforce the topical assertion that bacteria in the immobilized state display a specific physiological behavior but also question the existence of a unique IC phenotype.     

The statistical analysis of multivariate serological frequency data

Data occurring in the form of frequencies are common in genetics—for example, in serology. Examples are provided by the AB0 group, the Rhesus group, and also DNA data. The statistical analysis of tables of frequencies is carried out using the available methods of multivariate analysis with usually three principal aims. One of these is to seek meaningful relationships between the components of a data set, the second is to examine relationships between populations from which the data have been obtained, the third is to bring about a reduction in dimensionality. This latter aim is usually realized by means of bivariate scatter diagrams using scores computed from a multivariate analysis. The multivariate statistical analysis of tables of frequencies cannot safely be carried out by standard multivariate procedures because they represent compositions and are therefore embedded in simplex space, a subspace of full space. Appropriate procedures for simplex space are compared and contrasted with simple standard methods of multivariate analysis (“raw” principal component analysis). The study shows that the differences between a log-ratio model and a simple logarithmic transformation of proportions may not be very great, particularly as regards graphical ordinations, but important discrepancies do occur. The divergencies between logarithmically based analyses and raw data are, however, great. Published data on Rhesus alleles observed for Italian populations are used to exemplify the subject.     

Prevalence and factors associated with atrophic gastritis and intestinal metaplasia: A multivariate,hospital-based,statistical analysis

BackgroundAtrophic gastritis (AG) and intestinal metaplasia (IM) play an essential role in gastric carcinogenesis. This study aimed to determine the prevalence of AG and IM and their associated factors.MethodsSubjects who underwent upper endoscopy at Chiang Mai University Hospital from January 2018 to Dec 2021 were included. All participants were interviewed using a structured questionnaire to collect their personal histories. In addition, clinical and histological data and associated factors of AG and IM were analyzed.ResultsA total of 947 subjects (mean age, 53.61 ± 9.73 years; 60% male) were included. The prevalence of AG and IM, diagnosed by histopathology, was 39% and 19%. Prevalence of AG and IM increased from 28% and 9% in those under 50 years to 43% and 30% in those above 60 (p < 0.05). In a multivariate analysis, Helicobacter pylori (H. pylori) infection, age 50–59 and over 60 years were significantly associated with higher odds of AG (odds ratio (OR), 2.07, 2.06, and 1.98) and IM (OR, 2.07, 2.18, and 4.46), respectively. Conversely, ingestion of spicy food was significantly associated with lower odds of AG and IM (OR, 0.75, and 0.62).ConclusionsThis study confirms that age and H. pylori infection are risk factors, whereas spicy food intake is a protective factor against AG and IM, which are common in patients over 50. Therefore, upper endoscopy and gastric mapping sampling are recommended for patients with chronic dyspepsia older than 50 to reduce gastric cancer risk.     

Results of multidisciplinary management of bilateral cleft lip and palate at the Iowa Cleft Palate Center.

Bilateral cleft of the lip and palate is by many standards the most complex and severe form of the defect. The complexity and severity of the defect require an unusual degree of cooperation among all specialists and especially between the surgeon and the orthodontist. There are no published findings that we know about in which comprehensive data from a number of disciplines are reported for the same group of bilateral cleft patients. Fifty randomly selected patients with bilateral complete clefts were examined by the Iowa team and two orthodontists from other institutions. The evaluations revealed that a large number of patients over the age of 10 have multiple residual problems requiring further treatment. Only 23 percent of the older patients studied were judged to have had treatment completed by the surgeon, speech pathologist, and orthodontist. It is very difficult to state whether the results obtained by our team can be considered satisfactory because there are no comparable studies that have attempted to evaluate the same parameters in multidisciplinary management.     

A new family of powerful multivariate statistical sequence analysis techniques

A novel multivariate statistical approach is presented for extracting and exploiting intrinsic information present in our ever-growing sequence data banks. The information extraction from the sequences avoids the pitfalls of intersequence alignment by analyzing secondary invariant functions derived from the sequences in the data bank rather than the sequences themselves. Such typical invariant function is a 20 x 20 histogram of occurrences of amino acid pairs in a given sequence or fragment thereof. To illustrate the potential of the approach an analysis of 10,000 protein sequences from the National Biomedical Research Foundation Protein Identification Resource is presented, whose analysis already reveals great biological detail. For example, zeta-hemoglobin is found to lie close to amphibian and fish chi-hemoglobin which, in turn, is an important clue to the physiological function of this mammalian early embryonic hemoglobin. The multivariate statistical framework presented unifies such apparently unrelated issues as phylogenetic comparisons between a set of sequences and distance matrices between the constituents of the biological sequences. The Multivariate Statistical Sequence Analysis (MSSA) principles can be used for a wide spectrum of sequence analysis problems such as: assignment of family memberships to new sequences, validation of new incoming sequences to be entered into the database, prediction of structure from sequence, discrimination of coding from non-coding DNA regions, and automatic generation of an atlas of protein or DNA sequences. The MSSA techniques represent a self-contained approach to learning continuously and automatically from the growing stream of new sequences. The MSSA approach is particularly likely to play a significant role in major sequencing efforts such as the human genome project.