Challenges in Care Provision for Children and Adolescents With Differences of Sex Development.

Objectives: The ideal model of care for individuals with Differences of Sex Development (DSD) continues to evolve, with multiple models proposed. This study aimed to explore current care models for individuals with DSD in Australia and New Zealand (NZ) and to identify clinician perceptions of gaps and barriers in current practice.

Methods: Cross-sectional anonymous online questionnaire, conducted via Research Electronic Data Capture (REDCap) software.

Genomic testing for differences of sex development: Practices and perceptions of clinicians.

Objectives: To investigate the approach taken by clinicians involved in the diagnosis and management of individuals with Differences of Sex Development (DSD), particularly with regard to genomic testing, and identify perceived gaps/strengths/barriers in current practice.

Design And Methods: An anonymous online survey was developed, with questions exploring demographics, perceptions of genomic testing, availability of genetics services and opinions on the role and utility of genomic testing in DSD. All responses were anonymous.

Sex Hormone Treatment for Female Children and Young Adults with Disorders Affecting Hypothalamic, Pituitary, and Ovarian Function.

Background: Normal hypothalamic-pituitary-ovarian (HPO) endocrine function is essential for female pubertal and psychosocial development and for ongoing adult physical, sexual, and psychosocial health. Girls with hypogonadism, any endocrine disorder causing abnormal uterine bleeding (AUB) or with contraception needs may require sex hormone treatment. Challenges include evolving needs of a young girl through the course of sexual maturation, potential health risks related to the use of sex hormones for pubertal induction, hormone replacement therapy (HRT), menstrual management, and/or contraception.

Establishing a Molecular Genetic Diagnosis in Children with Differences of Sex Development: A Clinical Approach.

Background: Despite distinct underlying aetiologies, the clinical phenotypes and hormonal profiles of children with various differences of sex development (DSD) are often similar, which presents challenges to ascertaining an accurate diagnosis on clinical grounds alone. Associated features and important clinical outcomes can, however, vary significantly in different DSD, thus establishing an accurate molecular diagnosis may have important implications for decision-making and management planning in a given individual.

Summary: The wider availability of next-generation sequencing techniques in recent years has led to recommendations for earlier integration of genetic testing in the diagnostic pathway of children with DSD.

Targeting the Non-Coding Genome for the Diagnosis of Disorders of Sex Development.

Disorders of sex development (DSD) are a complex group of conditions with highly variable clinical phenotypes, most often caused by failure of gonadal development. DSD are estimated to occur in around 1.7% of all live births.

Is there an optimal approach to elective stabilisation of glycaemic control in children and adolescents with type 1 diabetes mellitus?

Aim: To investigate the effectiveness of inpatient and outpatient interventions in attaining improved glycaemic control in children/adolescents with type 1 diabetes mellitus and persistently high/deteriorating HbA1c.

Methods: A retrospective study at a tertiary paediatric centre. Admitted individuals who had prior attempts at ambulatory stabilisation were matched with intervention naïve controls who underwent outpatient intervention.

The clinical features that contribute to poor bone health in young Australians living with cystic fibrosis: A recommendation for BMD screening.

Background: For Australians living with cystic fibrosis (CF), increased longevity means greater consideration needs to be given to long-term endocrine sequelae such as CF-related bone disease. Deficits in bone mass accrual are most likely to occur during childhood and adolescence. Current guidelines in Australia suggest repeat dual-energy X-ray absorptiometry (DXA) scans every 2 years.

Development and Retrospective Clinical Assessment of a Patient-Specific Closed-Form Integro-Differential Equation Model of Plasma Dilution.

A closed-form integro-differential equation (IDE) model of plasma dilution (PD) has been derived which represents both the intravenous (IV) infusion of crystalloid and the postinfusion period. Specifically, PD is mathematically represented using a combination of constant ratio, differential, and integral components. Furthermore, this model has successfully been applied to preexisting data, from a prior human study, in which crystalloid was infused for a period of 30 minutes at the beginning of thyroid surgery.

The use of the oesophageal Doppler in perioperative medicine: new opportunities in research and clinical practice.

The oesophageal Doppler (OD) is a minimally invasive haemodynamic monitor used in the surgical theatre and the ICU. Using the OD, goal-directed therapy (GDT) has been shown to reduce perioperative complications in high-risk surgical patients. However, most GDT protocols currently in use are limited to stroke volume optimisation.

Otocephaly Complex: Case Report, Literature Review, and Ethical Considerations.

Otocephaly complex is a rare and usually lethal syndrome characterized by a set of malformations consisting of microstomia, mandibular hypoplasia/agnathia, and ventromedial malposition of the ears. Those cases that have been diagnosed prenatally have used an ex utero intrapartum treatment procedure to establish a definitive airway. However, prenatal diagnosis continues to be challenging, primarily because of poor diagnostic sensitivity associated with ultrasonography.

Left Ventricle-Arterial System Interaction in Heart Failure.

Ejection fraction (EF) has been viewed as an important index in assessing the contractile state of the left ventricle (LV). However, it is frequently inadequate for the diagnosis and management of heart failure (HF), as a significant subset of HF patients have been found to have reduced EF (HFrEF) whereas others have preserved EF (HFpEF). It should be noted that the function of the LV is dependent on both preload and afterload, as well as its intrinsic contractile state.

The 'too muchness' of excitement: sexuality in light of excess, attachment and affect regulation.

This paper brings together contemporary thinking about early attachment and affect regulation with our clinical and theoretical understanding of the problems of adult sexuality. In addition to recent theories of affect regulation and attachment, we incorporate Laplanche's idea of 'excess', which was an important transitional concept integrating real experience with fantasy in sexuality. We elaborate the idea of excess-- 'too-muchness' --to illuminate the early overwhelming of the psyche that affects the formation of sexuality.

Additional hemodynamic measurements with an esophageal Doppler monitor: a preliminary report of compliance, force, kinetic energy, and afterload in the clinical setting.

The esophageal Doppler monitor (EDM) is a minimally-invasive hemodynamic device which evaluates both cardiac output (CO), and fluid status, by estimating stroke volume (SV) and calculating heart rate (HR). The measurement of these parameters is based upon a continuous and accurate approximation of distal thoracic aortic blood flow. Furthermore, the peak velocity (PV) and mean acceleration (MA), of aortic blood flow at this anatomic location, are also determined by the EDM.