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Internationally, Tay- Sachs disease ( TSD) preconception screening of Ashkenazi Jewish ( AJ) individuals and couples has led to effective primary prevention of TSD. In Australia, adolescent preconception genetic screening programs operate mainly in Jewish community high schools. These existing programs offer an effective means of primary prevention of TSD, are cost effective and safe. However, in the broader Australian community TSD screening is not systematically performed and cases still occur in unscreened AJ individuals. In order to improve the effectiveness of Australian screening, there is a need for definitive guidelines for healthcare professionals to facilitate extension of the proven benefits of preconception TSD screening to all AJ individuals at risk. We performed a systematic review of the relevant literature relating to AJ pre-conception and antenatal screening for TSD. The evidence was assessed using an established National Health and Medical Research Council evidence grading system. Evaluations of efficacy of TSD screening programs design and execution, cost-benefit and cost-utility health economic evaluation, and population outcomes were undertaken. The results have been used to propose a model for universal AJ TSD preconception and antenatal screening for the primary care setting. [ABSTRACT FROM AUTHOR]

Tay-Sachs disease (TSD) is a fatal, recessively inherited neurodegenerative condition of infancy and early childhood. Although rare in most other populations, the carrier frequency is one in 25 in Ashkenazi Jews. Australian high-school-based TSD preconception genetic screening programs aim to screen, educate, and optimize reproductive choice for participants. These programs have demonstrated high uptake, low psychological morbidity, and have been shown to result in fewer than expected Jewish TSD-affected births over 18 years of operation. The majority of Jewish individuals of reproductive age outside of the high school screening program setting in Australia have not accessed screening. Recent recommendations advocate supplementing the community high school screening programs with general practitioner- and obstetrician-led genetic screening of Ashkenazi Jewish individuals for TSD and other severe recessive diseases for which this group is at risk. Massively parallel DNA sequencing is expected to become the testing modality of choice over the coming years. [ABSTRACT FROM AUTHOR]

Adopted girls (n = 107) previously studied regarding menarcheal age in relation to age at arrival, were analysed as to growth pattern and final height related to nutritional status at arrival and menarcheal age. It was found that most girls had catch-up growth regarding height and half of them regarding weight. Faster catch-up and later arrival age in Sweden were associated with earlier menarche. The catch-up growth was, however, incomplete, and lower the initial height for age, lower was the height for age at the succeeding measurements, and the final height. The mean final height was 154 cm, but 8% of the girls were 145 cm or shorter. The data suggest that linear growth and final height is influenced by the preadoptive nutritional condition, as well as by the degree and timing of subsequent catch-up growth, and the timing of puberty. Pubertal onset is related to the degree and timing of catch-up growth. [ABSTRACT FROM AUTHOR]

Research is presented describing an investigation into the vibrational overtones of the methylpyridines, recorded at room temperature, using intracavity laser photoacoustic spectroscopy and conventional absorption spectroscopy.