Ectodermal dysplasia,ectrodactyly and macular dystrophy (EEM syndrome) in siblings

We report a brother and sister with ectodermal dysplasia, ectrodactyly, and macular dystrophy (the EEM syndrome). Both children had abnormalities of the hands and the hair, and bilateral macular degeneration. The clinical picture in both is similar to, but less severe than, that described in the previously reported cases of this rare syndrome. Even though the parents are not related, they are both of Jewish Yemenite origin, and the possibility of a common ancestor cannot be ruled out. This would suggest autosomal recessive inheritance. The clinical picture in these patients suggests either variable expression or genetic heterogeneity in the EEM syndrome and further delineates the clinical and genetic spectrum of this condition. © 2001 Wiley‐Liss, Inc.     

Grandparental genotyping enhances exome variant interpretation

Trio exome sequencing is a powerful tool in the molecular investigation of monogenic disorders and provides an incremental diagnostic yield over proband‐only sequencing, mainly due to the rapid identification of de novo disease‐causing variants. However, heterozygous variants inherited from unaffected parents may be inadvertently dismissed, although multiple explanations are available for such scenarios including mosaicism in the parent, incomplete penetrance, imprinting, or skewed X‐inactivation. We report three probands, in which a pathogenic or likely pathogenic variant was identified upon exome sequencing, yet was inherited from an unaffected parent. Segregation of the variants (in NOTCH1, PHF6, and SOX10) in the grandparent generation revealed that the variant was de novo in each case. Additionally, one proband had skewed X‐inactivation. We discuss the possible genetic mechanism in each case, and urge caution in data interpretation of exome sequencing data. We illustrate the utility of expanding segregation studies to the grandparent generation and demonstrate the impact on exome interpretation strategies, by showing that objective genotype data can overcome subjective parental report of lack of symptoms.     

The Protective effect ofd-sotalol against hypoxia-induced myocardial uncoupling

Summary The effects ofd-sotalol on intercellular electrical coupling and ultrastructure under hypoxic conditions were investigated in myocardial samples from eight young (1–2 months) and four older (10–12 months) guinea pigs. A right ventricular muscle strip was kept simultaneously in two divided chambers and superfused with normoxic and/or hypoxic (97% N₂+ 3% C_O2) Krebs solution. Hypoxia caused shortening of action potential duration (APD) and electrical cellto-cell uncoupling. If the uncoupling appeared after short-term hypoxia (less than 30 min), administration of 3.10^–7M ofd-sotalol to the hypoxic perfusate led to a recovery of electrical coupling. Transmission electron microscopy revealed moderate reversible ultrastructural alterations of the cardiomyocytes. No apparent changes in intercellular junctions were observed. The recoupling effect of sotalol decreased with the time of hypoxia as the ultrastructural damage progressed. After prolonged hypoxia (more than 30min), cardiomyocytes were markedly injured, intercellular junctions were severely affected, and gap junctions occurred less frequently. In these cases, administration ofd-sotalol caused only transient recoupling. After 1h of hypoxia, no recoupling was observed. Pretreatment withd-sotalol prevented hypoxia-induced electrical uncoupling and markedly attenuated ultrastructural damage, although shortening of APD still persisted. Our results indicate that the cardioprotective effect ofd-sotalol on electrical intercellular coupling is closely associated with sotalol-induced prevention of the ultrastructural damage. Considering previous results, we suggest that this protective effect ofd-sotalol may be related to its ability to increase intracellular cyclic adenosine monophosphate and, thereby, to decrease cytosolic free Ca. These effects can explain the antiarrhythmic and defibrillating properties ofd-sotalol.     

Development and Validation of a Highly Accurate Quantitative Real-Time PCR Assay for Diagnosis of Bacterial Vaginosis

Bacterial vaginosis (BV) is the most common gynecological infection in the United States. Diagnosis based on Amsel''s criteria can be challenging and can be aided by laboratory-based testing. A standard method for diagnosis in research studies is enumeration of bacterial morphotypes of a Gram-stained vaginal smear (i.e., Nugent scoring). However, this technique is subjective, requires specialized training, and is not widely available. Therefore, a highly accurate molecular assay for the diagnosis of BV would be of great utility. We analyzed 385 vaginal specimens collected prospectively from subjects who were evaluated for BV by clinical signs and Nugent scoring. We analyzed quantitative real-time PCR (qPCR) assays on DNA extracted from these specimens to quantify nine organisms associated with vaginal health or disease: Gardnerella vaginalis, Atopobium vaginae, BV-associated bacteria 2 (BVAB2, an uncultured member of the order Clostridiales), Megasphaera phylotype 1 or 2, Lactobacillus iners, Lactobacillus crispatus, Lactobacillus gasseri, and Lactobacillus jensenii. We generated a logistic regression model that identified G. vaginalis, A. vaginae, and Megasphaera phylotypes 1 and 2 as the organisms for which quantification provided the most accurate diagnosis of symptomatic BV, as defined by Amsel''s criteria and Nugent scoring, with 92% sensitivity, 95% specificity, 94% positive predictive value, and 94% negative predictive value. The inclusion of Lactobacillus spp. did not contribute sufficiently to the quantitative model for symptomatic BV detection. This molecular assay is a highly accurate laboratory tool to assist in the diagnosis of symptomatic BV.     

Cervical and Vaginal Flora Specimens Are Highly Concordant with Respect to Bacterial Vaginosis-Associated Organisms and Commensal Lactobacillus Species in Women of Reproductive Age

Matched vaginal and cervical specimens from 96 subjects were analyzed by quantitative PCR for the presence and concentration of bacterial vaginosis-associated microbes and commensal Lactobacillus spp. Detection of these microbes was 92% concordant, indicating that microbial floras at these body sites are generally similar.     

Multiplex quantitative polymerase chain reaction assay for the identification and quantitation of major vaginal lactobacilli

Lactobacilli play a key role in promoting vaginal health. Depletion of these bacteria is associated with bacterial vaginosis (BV), the most common vaginal disorder. Here we describe the development and laboratory validation of a novel single-tube multiplex TaqMan quantitative polymerase chain reaction (qPCR) assay for the identification and quantitative assessment of the four major vaginal Lactobacillus species: L. crispatus, L. jensenii, L. gasseri, and L. iners. The assay utility was evaluated by the analysis of lactobacilli in non-cultured clinical vaginal swab specimens collected from BV patients and healthy individuals. As confirmed by the assay, L. crispatus, L. jensenii, and to a lesser extent L. gasseri, are common in the vagina of healthy women, whereas L. iners dominance is associated with BV. The major assay limitation was preferential detection of dominant Lactobacillus species in samples with mixed lactobacilli resulting in lower sensitivity for minor species. The multiplex qPCR assay described here is an advance in the detection and quantitation of the major vaginal lactobacilli, potentially facilitating the molecular diagnosis of BV and post-therapy restoration of the vaginal microflora.     

Using the clay slip game in art therapy: a sensory intervention

ABSTRACT

The goal of the present study was to achieve a better understanding of the experience of playing with slip and the ways in which participants experience the Clay Slip Game and how they perceive the therapeutic qualities of the material, thus including the potential for art therapists to add the Slip Game to their toolbox. Ten experienced qualified art therapists and 48 art therapy students took part. All participants engaged in the Slip Game during the study and reported their experiences in an interview (therapists) or in written personal reflections (students). Data analysis adhered to the principles of Grounded Theory [Charmaz (2006). Constructing grounded theory: A practical guide through qualitative analysis. London: Sage Publications]. The findings indicate that the experience of the Slip Game is mainly a sensory (tactile), playful, pleasant and calming experience of making without the need to produce an end product. The experience is more internal (meditative) and stimulates feelings of regression. The therapeutic qualities of the material, as discussed by the participants, are related to the regressive and sublimative processes afforded by the material, and as a material that enables sensory, behavioural, emotional, and motor regulation.

Plain-language summary

Art therapy is a type of psychotherapy that uses artistic materials and creative processes in the therapeutic process. Since art materials are the primary tools through which the art therapy processes occur, therapists need to have an in-depth understanding of the art materials they offer to their clients [Moon (2010). Materials & media in art therapy: Critical understandings of diverse artistic vocabularies. New York, NY: Routledge].

Slip is a mixture of water with an additional substance that produces a thick and saline-type paste [De Montmollin (2010). The barbotine game-challenge of creativity. Antwerpen.]. It can be made by diluting and filtering any kind of clay to make it semi-fluid. Playing with slip as a distinct and separate technique was defined as a ‘game’ by Daniel De Montmollin, a ceramicist. De Montmollin created the Slip Game as a way to help people free themselves from internal and external censorship or criticism.

The goal of this study was to understand the participants’ experience of the Slip Game and whether they found the process therapeutic. Forty-eight art therapy students and 10 art therapists took part in the study. After engaging in the Slip Game, the art therapists reported their experiences in an interview and the students wrote personal reflections. These were then analysed using Grounded Theory.

The findings show that the participants experienced the Slip Game as mainly sensory and reported it was pleasant, calming, playful and tactile, a way of ‘making’ without the need to produce an end product. They also found the experience to be meditative, that it stimulated feelings of regression and felt that engaging with slip also improved behaviour, emotional control and fine hand-movement skills.     

Stone Age hut in Israel yields world's oldest evidence of bedding

The earliest archaeological remains of dwelling huts built by Homo sapiens were found in various European Upper Paleolithic open-air camps. Although floors of huts were found in a small number of cases, modern organization of the home space that includes defined resting areas and bedding remains was not discovered. We report here the earliest in situ bedding exposed on a brush hut floor. It has recently been found at the previously submerged, excellently preserved 23,000-year-old fisher-hunter-gatherers' camp of Ohalo II, situated in Israel on the shore of the Sea of Galilee. The grass bedding consists of bunches of partially charred Puccinellia confer convoluta stems and leaves, covered by a thin compact layer of clay. It is arranged in a repeated pattern, on the floor, around a central hearth. This study describes the bedding in its original context on a well preserved intentionally constructed floor. It also reconstructs on the basis of direct evidence (combined with ethnographic analogies) the Upper Paleolithic hut as a house with three major components: a hearth, specific working locales, and a comfortable sleeping area near the walls.     

Thrombophilic polymorphisms in Israel

Three thrombophilic polymorphisms, FV G1691A, FII G20210A and MTHFR C677T were investigated in Israeli populations by FRET, (fluorescence resonance energy transfer) real-time PCR. We observe extensive variability in the frequencies of each of the polymorphisms, as has been observed in the study of other polymorphisms in these populations. Very high allele frequencies for FV G1691A (the highest 0.087 in Turkish and Greek Jews) and FII G20210A (the highest 0.061 in Georgian Jews) in some of the Israeli populations justify a clinical investigation to assess their risk for venous thrombosis. Principal Coordinates Analysis demonstrates that the Jewish populations are interspersed among the non-Jewish populations. The resemblance of some Jewish populations to certain non-Jewish populations coincides with findings based on classical markers.