Associations between low-moderate prenatal alcohol exposure and brain development in childhood.

Background: The effects of low-moderate prenatal alcohol exposure (PAE) on brain development have been infrequently studied.

Aim: To compare cortical and white matter structure between children aged 6 to 8 years with low-moderate PAE in trimester 1 only, low-moderate PAE throughout gestation, or no PAE.

Methods: Women reported quantity and frequency of alcohol consumption before and during pregnancy.

Low to moderate prenatal alcohol exposure and neurodevelopment in a prospective cohort of early school aged children.

Evidence is strong for adverse fetal effects of high level or chronic prenatal alcohol exposure (PAE), but many pregnant women continue to drink at lower levels. The 'Asking Questions about Alcohol in pregnancy' prospective cohort aimed to determine the neurodevelopmental consequences at 6-8 years of age of low to moderate PAE. 1570 women from seven public antenatal clinics in Melbourne, Australia, provided information on frequency and quantity of alcohol use, and obstetric, lifestyle and socio-environmental confounders at four gestation timepoints.

Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or -related overgrowth spectrum.

Purpose: Drugs that attenuate hyperactivation of the phosphatidylinositol 3-kinase-Akt and Ras-mitogen-activated protein kinase signaling pathways are emerging treatments for children with rare, intractable vascular anomalies or related overgrowth spectrum (PROS) with an eligible genetic diagnosis. However, access to genetic testing remains a barrier to genetic diagnosis. Here, we implement a targeted molecular diagnostic strategy for vascular anomalies or PROS.

Natural reference structures for three-dimensional maxillary regional superimposition in growing patients.

Background: Assessment of growth-related or treatment-related changes in the maxilla requires a reliable method of superimposition. Such methods are well established for two-dimensional (2D) cephalometric images but not yet for three-dimensions (3D). The aims of this study were to identify natural reference structures (NRS) for the maxilla in growing patients in 3D, opportunistically using orthodontic mini-screws as reference; and to test the applicability of the proposed NRS for maxillary superimposition by assessing the concordance of this approach with Björk's 'stable reference structures' in lateral projection.

Australian healthcare professionals' perspectives on genetic counseling and genetic diagnosis in vascular anomalies.

Genomic technologies are now utilized for the genetic diagnosis of vascular anomalies. This provides the opportunity for genetic counselors to make a significant contribution to patient care for this complex disease. The aim of this study was to explore Australian healthcare professionals' perspectives on the relatively recent integration of molecular diagnostic testing for vascular anomalies, with or without genetic counseling support.

Using data-driven phenotyping to investigate the impact of sex on 3D human facial surface morphology.

The effects of sex on human facial morphology have been widely documented. Because sexual dimorphism is relevant to a variety of scientific and applied disciplines, it is imperative to have a complete and accurate account of how and where male and female faces differ. We apply a comprehensive facial phenotyping strategy to a large set of existing 3D facial surface images.

Digital Nerve Blocks: A Comprehensive Review of Techniques.

Background: Finger and toe injuries are a common reason for presentation to the emergency department. In order to properly care for these injuries, it is valuable for emergency medicine clinicians to be aware of the different approaches to anesthetize the digit.

Methods: We searched the literature using PubMed to determine the different techniques and supporting data for digital nerve blockades.

Satisfaction with hand appearance in children with index pollicization for thumb hypoplasia.

Although the primary aim of pollicization is to augment function, aesthetic improvement is an important secondary aim. Satisfaction with hand appearance in children with index pollicization for thumb hypoplasia was evaluated in 18 patients at an average of 7.5 years after surgery.

Automated assessment of mandibular shape asymmetry in 3-dimensions.

Introduction: This study aimed to develop an automatic pipeline for analyzing mandibular shape asymmetry in 3-dimensions.

Methods: Forty patients with skeletal Class I pattern and 80 patients with skeletal Class III pattern were used. The mandible was automatically segmented from the cone-beam computed tomography images using a U-net deep learning network.

A data driven approach to identify trajectories of prenatal alcohol consumption in an Australian population-based cohort of pregnant women.

Accurate information on dose, frequency and timing of maternal alcohol consumption is critically important when investigating fetal risks from prenatal alcohol exposure. Identification of distinct alcohol use behaviours can also assist in developing directed public health messages about possible adverse child outcomes, including Fetal Alcohol Spectrum Disorder. We aimed to determine group-based trajectories of time-specific, unit-level, alcohol consumption using data from 1458 pregnant women in the Asking Questions about Alcohol in Pregnancy (AQUA) longitudinal study in Melbourne, Australia.

Cohort profile: early school years follow-up of the Asking Questions about Alcohol in Pregnancy Longitudinal Study in Melbourne, Australia (AQUA at 6).

Purpose: The Asking Questions about Alcohol in Pregnancy (AQUA) study, established in 2011, is a prebirth cohort of 1570 mother and child pairs designed to assess the effects of low to moderate prenatal alcohol exposure and sporadic binge drinking on long-term child development. Women attending general antenatal clinics in public hospitals in Melbourne, Australia, were recruited in their first trimester, followed up three times during pregnancy and at 12 and 24 months postpartum. The current follow-up of the 6-8-year-old children aims to strengthen our understanding of the relationship between these levels of prenatal alcohol exposure and neuropsychological functioning, facial dysmorphology, brain structure and function.

Identification of a recurrent mosaic variant in brain tissue from an individual with nevus sebaceous syndrome.

Nevus sebaceous syndrome (NSS) is a rare, multisystem neurocutaneous disorder, characterized by a congenital nevus, and may include brain malformations such as hemimegalencephaly or focal cortical dysplasia, ocular, and skeletal features. It has been associated with several eponyms including Schimmelpenning and Jadassohn. The isolated skin lesion, nevus sebaceous, is associated with postzygotic variants in or in all individuals studied.

Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism.

Craniofacial dysmorphism is associated with thousands of genetic and environmental disorders. Delineation of salient facial characteristics can guide clinicians towards a correct clinical diagnosis and understanding the pathogenesis of the disorder. Abnormal facial shape might require craniofacial surgical intervention, with the restoration of normal shape an important surgical outcome.

Evaluation of Crizotinib Treatment in a Patient With Unresectable GOPC-ROS1 Fusion Agminated Spitz Nevi.

Importance: Spitz nevi are benign melanocytic neoplasms that classically present in childhood. Isolated Spitz nevi have been associated with oncogenic gene fusions in approximately 50% of cases. The rare agminated variant of Spitz nevi, thought to arise from cutaneous genetic mosaicism, is characterized by development of clusters of multiple lesions in a segmental distribution, which can complicate surgical removal.

A Systematic Review of Intra-abdominal Tissue Expansion for the Treatment of Exomphalos Major and a Case Report Describing a Refinement of the Technique.

The management of complex exomphalos major is difficult, and traditional techniques fail to address the visceroabdominal disproportion in the most severe cases. Intra-abdominal tissue expansion is a novel technique and has been used in a small number of patients to safely increase the intra-abdominal volume and allow the reduction of viscera and subsequent closure of the abdominal domain. We review 7 published reports of this technique and add a case report describing our refinement of the technique.

Pitfalls and Promise of 3-dimensional Image Comparison for Craniofacial Surgical Assessment.

Three-dimensional (3D) photography is becoming widely used in plastic surgery. It provides an accurate and reproducible record of the facial surface anatomy and could be a versatile tool for treatment planning and assessment. However, the existing software tools available for the assessment of 3D facial imaging often give highly misleading results.

The psychosocial impact of congenital hand and upper limb differences on children: a qualitative study.

This qualitative study explored the psychosocial concerns of children born with congenital hand and upper limb differences (CHULDs) from the point of view of these children and their parents. Qualitative, in-depth, semi-structured interviews were conducted face-to-face with eight parent-child dyads. Open format questions allowed spontaneous emergence of relevant themes, followed by guided questioning.

Surgical Management of Intramuscular Venous Malformations.

Background: Intramuscular venous malformations, often erroneously called "intramuscular hemangiomas," present to pediatric orthopaedic surgeons either as a differential diagnosis of tumor or as a cause of muscle pain. Treatment options include injection sclerotherapy or surgery. There is some literature to indicate that sclerotherapy can reduce pain, but little evidence on the effectiveness of surgery.

A cross-sectional assessment of the relationship between sedative medication and anticholinergic medication use and the movement behaviour of older adults living in residential aged care.

Objectives: Medications with anticholinergic or sedative effects are frequently used by older people but can increase risk of falls and adverse events; however, less is known about their effect on movement behaviour. Here we examine the cross-sectional association between medication use and movement behaviour in older adults living in residential aged care.

Materials And Methods: Twenty-eight older adults living in residential aged care in metropolitan Australia participated.

Evaluation of an implementation project: The exercise physiology in aged care program.

Aim: It is important for older adults to maintain the ability to be physically active, and to experience the benefits that physical activity brings. This study evaluates a 12-week Accredited Exercise Physiologist-led exercise program for vulnerable older adults living with dementia, delivered in a residential aged care facility in South Australia. The value of the program was also evaluated from the perspective of partners-in-care (family members and care staff).

3D assessment of mandibular skeletal effects produced by the Herbst appliance.

Background: A functional appliance is commonly used to optimize the development of the facial skeleton in the treatment of Class II malocclusion. Recent three-dimensional(3D) image-based analysis offers numerous advantages in quantitative measurement and visualization in orthodontics. The aim of this study was to localize in 3D the skeletal effect produced by the Herbst appliance on the mandible using the geometric morphometric technique.

Challenges associated with physical assessments for people living with dementia: Modifying standard assessment protocols.

Objectives: Regular physical activity for older adults as they age is important for maintaining not only physical function but also independence and self-worth. To be able to monitor changes in physical function, appropriate validated measures are required. Reliability of measures such as the timed-up-and-go, five-repetition sit-to-stand, handgrip strength, two-minute walk, 30-second sit-to-stand, and four-metre walk has been demonstrated; however, the appropriateness of such measures in a population of adults living with dementia, who may be unable to follow instructions or have diminished physical capacity, is not as well quantified.

'Operating is the easy part': Surgeons' decision-making processes and responses to parental requests for elective paediatric appearance-altering facial surgery.

Some parents request elective appearance-altering facial surgery for their children for cosmetic, psychological and/or social reasons. These operations have attracted controversy in the bioethics literature. They are also the subject of professional guidance documents internationally, which leave much to individual practitioners' discretion.