Sex-specific transgenerational effects of diet on offspring life history and physiology.

Dietary variation in males and females can shape the expression of offspring life histories and physiology. However, the relative contributions of maternal and paternal dietary variation to phenotypic expression of latter generations is currently unknown. We provided male and female grandparents with diets differing in sucrose concentration prior to reproduction, and similarly subjected their grandoffspring to the same treatments.

The adverse effects of vitrification on mouse embryo development and metabolic phenotype in offspring.

Embryo vitrification is a standard procedure in assisted reproductive technology. Previous studies have shown that frozen embryo transfer is associated with an elevated risk of adverse maternal and neonatal outcomes. This study aimed to explore the effects of mouse blastocyst vitrification on the phenotype of vitrified-warmed blastocysts, their intrauterine and postnatal development, and the long-term metabolic health of the derived offspring.

Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy.

Objective: To provide a greater understanding of the tolerability, safety and clinical outcomes of onasemnogene abeparvovec in real-world practice, in a broad population of infants with spinal muscular atrophy (SMA).

Methods: A prospective cohort study of children with SMA treated with onasemnogene abeparvovec at Sydney Children's Hospital Network, Australia was conducted from August 2019 to November 2021. Safety outcomes included clinical and laboratory evaluations.

Nifedipine for primary dysmenorrhoea.

Background: Dysmenorrhoea (period pain) is a common condition with a substantial impact on the well-being and productivity of women. Primary dysmenorrhoea is defined as recurrent, cramping pelvic pain that occurs with periods, in the presence of a normal uterus, ovaries and fallopian tubes. It is thought to be caused by uterine contractions (cramps) associated with a high level of production of local chemicals such as prostaglandins.

Utilisation of machine learning to predict surgical candidates for the treatment of childhood upper airway obstruction.

Objective: To investigate the effect of adenotonsillectomy on OSAS symptoms based on a data-driven approach and thereby identify criteria that may help avoid unnecessary surgery in children with OSAS.

Methods: In 323 children enrolled in the Childhood Adenotonsillectomy Trial, randomised to undergo either early adenotonsillectomy (eAT; N = 165) or a strategy of watchful waiting with supportive care (WWSC; N = 158), the apnea-hypopnea index, heart period pattern dynamics, and thoraco-abdominal asynchrony measurements from overnight polysomnography (PSG) were measured. Using machine learning, all children were classified into one of two different clusters based on those features.

Association Between Newborn Thyroid-Stimulating-Hormone Concentration and Neurodevelopment and Growth: a Systematic Review.

Iodine nutrition during pregnancy can affect newborn thyroid-stimulating-hormone concentration (TSH). Associations of newborn TSH with the neurodevelopment and growth of children are inconsistent. The aim of the study was to systematically review the literature on the associations between newborn TSH and childhood neurodevelopment and growth.

Sphingolipids as multifaceted mediators in ovarian cancer.

Ovarian cancer is the most lethal gynaecological malignancy. It is commonly diagnosed at advanced stage when it has metastasised to the abdominal cavity and treatment becomes very challenging. While current standard therapy involving debulking surgery and platinum + taxane-based chemotherapy is associated with high response rates initially, the large majority of patients relapse and ultimately succumb to chemotherapy-resistant disease.

The mTORC1 complex in pre-osteoblasts regulates whole-body energy metabolism independently of osteocalcin.

Overnutrition causes hyperactivation of mTORC1-dependent negative feedback loops leading to the downregulation of insulin signaling and development of insulin resistance. In osteoblasts (OBs), insulin signaling plays a crucial role in the control of systemic glucose homeostasis. We utilized mice with conditional deletion of Rptor to investigate how the loss of mTORC1 function in OB affects glucose metabolism under normal and overnutrition dietary states.

A genome-wide transcriptomic analysis of embryos fathered by obese males in a murine model of diet-induced obesity.

Paternal obesity is known to have a negative impact on the male's reproductive health as well as the health of his offspring. Although epigenetic mechanisms have been implicated in the non-genetic transmission of acquired traits, the effect of paternal obesity on gene expression in the preimplantation embryo has not been fully studied. To this end, we investigated whether paternal obesity is associated with gene expression changes in eight-cell stage embryos fathered by males on a high-fat diet.

Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.

Background: The strength of evidence supporting the validity of gene-disease relationships is variable. Hereditary cancer has the additional complexity of low or moderate penetrance for some confirmed disease-associated alleles.

Methods: To promote national consistency in interpretation of hereditary cancer/tumour gene test results, we requested opinions of representatives from Australian Family Cancer Clinics regarding the clinical utility of 157 genes initially collated for a national research project.

Creating Healthy Change in the Preconception Period for Women with Overweight or Obesity: A Qualitative Study Using the Information-Motivation-Behavioural Skills Model.

Worldwide, half of women begin a pregnancy with overweight or obesity, which increases the risk of pregnancy and birth complications and adversely affects the lifelong health of the offspring. In order for metabolic changes to influence the gestational environment, research suggests that weight loss should take place before conception. This study aimed to understand women's emotional and social contexts, knowledge, motivations, skills and self-efficacy in making healthy change.

A randomized controlled trial of a structured exercise intervention after the completion of acute cancer treatment in adolescents and young adults.

Background: Cancer treatments are frequently associated with impaired physical fitness, quality of life (QOL), and fatigue, often persisting into survivorship.  Studies in older adults with cancer have demonstrated benefits from exercise; however, this has not been rigorously investigated in adolescents and young adults (AYA). The aim of this study was to determine whether a structured 10-week exercise intervention was associated with improved cardiorespiratory fitness (VO ), fatigue, and QOL in AYA who have recently completed cancer treatment.

Does selective evaluation of gastric aspirates in preterm infants influence time to full enteral feeding?

The use of routine gastric aspiration in the assessment of feeding intolerance is widespread in neonatal practice. Our article seeks to answer the clinical question, 'In premature infants receiving feeds via nasogastric or orogastric tube [P], does routine evaluation of gastric aspirates [I] compared with selective evaluation of gastric aspirates [C] reduce the time taken to establish full feeds without complications [O]?' Articles were identified through MEDLINE and reference lists from the sources found were reviewed for additional publications. Three papers were critically appraised and National Health and Medical Research Centre grades of level of evidence have been assigned to each.

The microbial abundance dynamics of the paediatric oral cavity before and after sleep.

: Microhabitats in the oral cavity differ in microbial taxonomy. However, abundance variations of bacterial and viral communities within these microhabitats are not fully understood. : To assess the spatial distribution and dynamics of the microbial abundances within 6 microhabitats of the oral cavity before and after sleep.

The Inconsistent Nature of Heart Rate Variability During Sleep in Normal Children and Adolescents.

Cardiac function is modulated by multiple factors including exogenous (circadian rhythm) and endogenous (ultradian 90-110 min sleep cycle) factors. By evaluating heart rate variability (HRV) during sleep, we will better understand their influence on cardiac activity. The aim of this study was to evaluate HRV in the dark phase of the circadian rhythm during sleep in healthy children and adolescents.

Evidence of compliance with and effectiveness of guidelines for noninvasive prenatal testing in China: a retrospective study of 189,809 cases.

In China, the medical guidelines recommend performing noninvasive prenatal testing (NIPT) with caution for pregnant women aged 35 years or older. However, the Mother and Child Health Care Law suggests that all primiparous women whose age is older than 35 years undergo prenatal diagnosis. These two inconsistent suggestions/recommendations have made obstetricians confused about whether to offer NIPT to these older pregnant women.

Prenatal administration of progestogens for preventing spontaneous preterm birth in women with a multiple pregnancy.

Background: Multiple pregnancy is a strong risk factor for preterm birth, and more than 50% of women with a twin pregnancy will give birth prior to 37 weeks' gestation. Infants born preterm are recognised to be at increased risk of many adverse health outcomes, contributing to more than half of overall perinatal mortality. Progesterone is produced naturally in the body and has a role in maintaining pregnancy, although it is not clear whether administering progestogens to women with multiple pregnancy at high risk of early birth is effective and safe.

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

We present eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (NM_001267550.1:c.39974-11T>G), inherited in trans with a second pathogenic TTN variant.

Maternal cardiometabolic markers are associated with fetal growth: a secondary exploratory analysis of the LIMIT randomised trial.

Background: To determine the association between maternal cardiometabolic and inflammatory markers with measures of fetal biometry and adiposity.

Methods: Women included in this exploratory analysis were randomised to the 'Standard Care' group (N = 911) from the LIMIT randomised trial involving a total of 2212 pregnant women who were overweight or obese (ACTRN12607000161426, Date of registration 9/03/2007, prospectively registered). Fetal biometry including abdominal circumference (AC), estimated fetal weight (EFW), and adiposity measurements (mid-thigh fat mass, subscapular fat mass, abdominal fat mass) were obtained from ultrasound assessments at 28 and 36 weeks' gestation.

Early-life factors contributing to type 1 diabetes.

The incidence of type 1 diabetes has increased since the mid-twentieth century at a rate that is too rapid to be attributed to genetic predisposition alone. While the disease can occur at any age, mounting evidence from longitudinal cohort studies of at-risk children indicate that type 1 diabetes associated autoantibodies can be present from the first year of life, and that those who develop type 1 diabetes at a young age have a more aggressive form of the disease. This corroborates the hypothesis that environmental exposures in early life contribute to type 1 diabetes risk, whether related to maternal influences on the fetus during pregnancy, neonatal factors or later effects during infancy and early childhood.

Impact of maternal education on response to lifestyle interventions to reduce gestational weight gain: individual participant data meta-analysis.

Objectives: To identify if maternal educational attainment is a prognostic factor for gestational weight gain (GWG), and to determine the differential effects of lifestyle interventions (diet based, physical activity based or mixed approach) on GWG, stratified by educational attainment.

Design: Individual participant data meta-analysis using the previously established International Weight Management in Pregnancy (i-WIP) Collaborative Group database (https://iwipgroup.wixsite.

In overweight and obese women, fetal ultrasound biometry accurately predicts newborn measures.

Introduction: The aim of this study was to evaluate the association between fetal ultrasound and newborn biometry and adiposity measures in the setting of maternal obesity.

Material And Methods: The study population involved 845 overweight or obese pregnant women, who participated in the Standard Care Group of the LIMIT randomised trial (ACTRN12607000161426, 9/03/2007). At 36 weeks gestation, fetal biometry, estimated fetal weight (EFW) and adiposity measures including mid-thigh fat mass (MTFM), subscapular fat mass (SSFM), and abdominal fat mass (AFM) were undertaken using ultrasound.