Aicardi syndrome in a 47 XXY male - a variable developmental phenotype?

BACKGROUND: Aicardi syndrome (AS) is a rare neurodevelopmental disorder characterized by the triad of corpus callosum agenesis, chorioretinal lacunae, and infantile spasms. Most patients with AS also have intractable epilepsy, moderate to severe learning disability, and a reduced life expectancy. An X-linked dominant inheritance caused by de novo mutations pattern, lethal in males, is postulated, but the gene has not yet been isolated. There are three case reports of 47 XXY males with classic features of AS who all had severe developmental disability. CASE REPORT: We report a case of a 3.5-year old 47 XXY male with the classic triad of Aicardi syndrome but with good seizure control and mild learning disability.

The impact of litigation on midwives.

Litigation is rising in maternity care and there is no evidence that it will slow down. Advertisements with a 'no win no fee' message encourage people to seek out lawyers. It is true that we are becoming an increasingly litigious society and claims in maternity care often lead to very high pay-outs. This can be millions of pounds for child with cerebral palsy if liability is admitted. Legal processes are fascinating but it does not feel like this if you are personally caught up in them.

QTL and candidate gene mapping for polyphenolic composition in apple fruit.

BACKGROUND: The polyphenolic products of the phenylpropanoid pathway, including proanthocyanidins, anthocyanins and flavonols, possess antioxidant properties that may provide health benefits. To investigate the genetic architecture of control of their biosynthesis in apple fruit, various polyphenolic compounds were quantified in progeny from a 'Royal Gala' × 'Braeburn' apple population segregating for antioxidant content, using ultra high performance liquid chromatography of extracts derived from fruit cortex and skin. RESULTS: Construction of genetic maps for 'Royal Gala' and 'Braeburn' enabled detection of 79 quantitative trait loci (QTL) for content of 17 fruit polyphenolic compounds. Seven QTL clusters were stable across two years of harvest and included QTLs for content of flavanols, flavonols, anthocyanins and hydroxycinnamic acids. Alignment of the parental genetic maps with the apple whole genome sequence in silico enabled screening for co-segregation with the QTLs of a range of candidate genes coding for enzymes in the polyphenolic biosynthetic pathway. This co-location was confirmed by genetic mapping of markers derived from the gene sequences. Leucoanthocyanidin reductase (LAR1) co-located with a QTL cluster for the fruit flavanols catechin, epicatechin, procyanidin dimer and five unknown procyanidin oligomers identified near the top of linkage group (LG) 16, while hydroxy cinnamate/quinate transferase (HCT/HQT) co-located with a QTL for chlorogenic acid concentration mapping near the bottom of LG 17. CONCLUSION: We conclude that LAR1 and HCT/HQT are likely to influence the concentration of these compounds in apple fruit and provide useful allele-specific markers for marker assisted selection of trees bearing fruit with healthy attributes.

Traditional birth attendant training and local birthing practices in India.

Training birth attendants (TBAs) provide essential maternal and infant health care services during delivery and ongoing community care in developing countries. Despite inadequate evidence of relevance and effectiveness of TBA training programmes, there has been a policy shift since the 1990s in that many donor agencies funding TBA training programmes redirected funds to providing skilled attendants during delivery. This study aimed to assess the ways in which a TBA training programme in India has been successful in disseminating evidence-based knowledge on birthing practices. TBAs practicing within 16 villages targeted by training programme initiatives were administered with structured questionnaires. The post training birthing practices of trained (24) and untrained (14) TBAs was compared and birthing practices adopted by women assisted by trained (16) and untrained (9) TBAs was analysed. Positive post training practices were hand washing, use of a clean blade for cutting the cord, immediate breastfeeding and weighing of babies. Nevertheless, the training could be further improved with up to date and evidence-based information and more comprehensive instructions. The findings suggest an integration of local and evidence-based knowledge is needed to improve the training. Raising community awareness of public health measures related to maternal and child health is also recommended.

The utility and challenges of using ICD codes in child maltreatment research: A review of existing literature.

OBJECTIVE: The objectives of this article are to explore the extent to which the International Statistical Classification of Diseases and Related Health Problems (ICD) has been used in child abuse research, to describe how the ICD system has been applied, and to assess factors affecting the reliability of ICD coded data in child abuse research. METHODS: PubMed, CINAHL, PsychInfo and Google Scholar were searched for peer reviewed articles written since 1989 that used ICD as the classification system to identify cases and research child abuse using health databases. Snowballing strategies were also employed by searching the bibliographies of retrieved references to identify relevant associated articles. The papers identified through the search were independently screened by two authors for inclusion, resulting in 47 studies selected for the review. Due to heterogeneity of studies meta-analysis was not performed. RESULTS: This paper highlights both utility and limitations of ICD coded data. ICD codes have been widely used to conduct research into child maltreatment in health data systems. The codes appear to be used primarily to determine child maltreatment patterns within identified diagnoses or to identify child maltreatment cases for research. CONCLUSIONS: A significant impediment to the use of ICD codes in child maltreatment research is the under ascertainment of child maltreatment by using coded data alone. This is most clearly identified and, to some degree, quantified, in research where data linkage is used. PRACTICE IMPLICATIONS: The importance of improved child maltreatment identification will assist in identifying risk factors and creating programs that can prevent and treat child maltreatment and assist in meeting reporting obligations under the CRC.

Queensland nurses' attitudes towards and knowledge of the legislative duty to report child abuse and neglect: results of a state-wide survey.

In 2005, legislation commenced requiring Queensland nurses to make reports of suspected child abuse and neglect to government child protection authorities. This development further harmonised Australian mandatory reporting laws and their application to the nursing profession, although inconsistencies still exist between States and Territories. As indicated by research published in 2006, little is known about nurses and the reporting of child abuse and neglect. The legislative change in Queensland provided a new opportunity to study nurses' attitudes to reporting, knowledge of the legal reporting duty, and reporting practice, all of which provides much-needed evidence about the reporting of child abuse and neglect, and about the laws themselves. This article describes results from a State-wide survey of Queensland nurses. Findings have implications for law reform, nursing practice, and nurses' training in child abuse and neglect reporting.

Parents' childhood fever management: community survey and instrument development.

AIM: This paper is a report of a study to explore Australian parents' knowledge, beliefs, practices and information sources about fever management and develop a scale to measure parents' fever management practices. BACKGROUND: Parental fever phobia and overuse of antipyretics to reduce fever continue. No scales to measure parents' fever management practices are available. METHOD: A community-based, postal survey was carried out in 2005 with 401 Australian parents of well children aged 6 months-5 years. Respondents were recruited through advertising (48.4%), face-to-face (26.4%) and snowball (24.4%) methods. A 33-item instrument was developed; construct and content validity were determined by an expert panel and item reliability by test-retest. RESULTS: Moderate fever (40.0 +/- 1.0 degrees C) was reported to be harmful (88%), causing febrile convulsions (77.7%). Usual practices targeted temperature reduction, antipyretic administration (87.8%), temperature monitoring (52.5%). Fewer evidence-based practices, such as encouraging fluids (49.0%) and light clothing (43.8%), were reported. Positive changes over time (36.4%) included less concern and delayed or reduced antipyretic use. Negative practice changes (22.7%) included greater concern and increased antipyretic use. Medical advice was sought for illness symptoms (48.7%) and high (37.4%) or persistent (41.5%) fevers. Fever management was learnt from doctors, family and friends and working experience, while receiving conflicting information (41.9%) increased concerns and created uncertainty about best practice. CONCLUSION: Parents need consistent evidence-based information about childhood fever management. The Parental Fever Management Scale requires further testing with different populations and in different cultures and healthcare systems to evaluate its usefulness in nursing practice and research.