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[Case Report] Renal apnoea: extreme disturbance of homoeostasis in a child with Bartter syndrome type IV

A 2-week-old girl was transferred to our renal ward in February, 2014, from the neonatal intensive care unit of her local hospital with polyuria (200 mL/kg per day) and extreme acid–base and electrolyte disturbance that had been present from birth. She was born by spontaneous delivery at 32 weeks’ gestation, after a pregnancy complicated by severe polyhydramnios necessitating two amnioreductions that had removed more than 6 L of fluid. She is the third child of consanguineous parents, with no relevant family history.

Govt investment in doctors of the future still falling short

As the new Chair of the Medical Workforce Committee (MWC), I am looking forward to harnessing the committee to drive the AMA’s response to the medical workforce crisis.

I would like to acknowledge Dr Stephen Parnis for his stewardship of the MWC as inaugural Chair. Like Stephen, I have a long-standing interest in medical workforce issues, and believe that ensuring Australia has the medical workforce to meet community needs is a critical challenge for governments and health policymakers.

Over the last 15 years the number of medical school places has increased substantially in response to past workforce shortages. But the need for more medical schools is over, as we know from successive sets of workforce data that Australia now has sufficient numbers of medical students. We must now focus on improving the distribution of the medical workforce, and providing enough postgraduate medical training places, particularly in rural and remote areas and the under-supplied specialty areas.

At the recent Federal Election, the AMA offered four important policy proposals to help achieve this outcome:

  • expanding the National Medical Training Advisory Network’s (NMTAN) workforce modelling program;
  • establishing a Community Residency Program;
  • increasing the GP training program intake; and
  • expanding the Specialist Training Program.

 

NMTAN is the Commonwealth’s main medical workforce training advisory body, and focuses on planning and coordination. It has representatives from the main stakeholder groups in medical education, training and employment.

NMTAN’s report on the psychiatry workforce was released in March. This is the first specialty report to be finalised by NMTAN since Health Workforce Australia was axed in 2014. It contains valuable data and analysis, including a projected undersupply of 125 practitioners by 2030 for the psychiatry workforce, despite a likely increase in the number of Australian-trained psychiatrists.

NMTAN is intending to beef up its work program. The AMA has argued consistently for complete workforce modelling and reporting across all medical specialties by the end of 2018; it is vital to have data sooner rather than later on imbalances across the specialties to enable effective workforce planning.

We will continue to engage with the Government of this issue. In the meantime, we await with interest the expected release of the reports on the anaesthesia and general practice workforces later this year.

An important piece of work undertaken by the MWC last year was developing the Community Residency Program for Junior Medical Officers (CRP). This is the AMA’s proposal to establish and fund a program for high-quality prevocational placements in general practice for junior doctors as a replacement for the valuable Prevocational General Practice Placements Program abolished by the Government in 2014.

We continue to lobby for our CRP. The Government’s announcement late last year that it will fund 240 rotations in general practice settings for rural-based interns is a partial replacement for the PGPPP, and was an admission by the Government that its decision to abolish the program was a backward step, especially for rural health.

As a practising GP, I am keenly aware that more resources are needed to build and maintain a sustainable GP workforce.

The AMA’s call to increase the GP training program intake to 1700 places a year by 2018 is worthy of the Government’s consideration. This must be backed with solid measures to support GP training, including incentives for supervisors and investment in training infrastructure. Rural general practices need grants to help them expand their facilities and provide more teaching opportunities for medicals students and GP registrars, and to enhance the range of services they provide.

The Commonwealth’s Specialist Training Program (STP) is a valuable workforce program that is giving specialist trainees the opportunity to train in settings outside traditional metropolitan teaching hospitals. Though the Government has committed to provide 1000 placements by 2018, the AMA strongly believes that the STP must be expanded to 1400 places a year, with the focus on encouraging specialist training in rural settings and specialties that are under-supplied.

Other areas of focus for the MWC will be promoting generalism in the medical workforce, encouraging greater gender diversity in medical leadership, and increasing clinical supervision capacity.

Progress, but much more to do.

 

 

 

 

HIP4Hips (High Intensity Physiotherapy for Hip fractures in the acute hospital setting): a randomised controlled trial

Error in table: In the article “HIP4Hips (High Intensity Physiotherapy for Hip fractures in the acute hospital setting): a randomised controlled trial”, published in the 18 July 2016 issue of the Journal (Med J Aust 2016; 205: 73-78), there was an error in Box 2. The group headings (“Usual care” and “Intensive physiotherapy”) were interchanged. The corrected article is available at https://mja.com.au/doi/10.5694/mja16.00091.

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit [Research]

Background:

Rare diseases often present in the first days and weeks of life and may require complex management in the setting of a neonatal intensive care unit (NICU). Exhaustive consultations and traditional genetic or metabolic investigations are costly and often fail to arrive at a final diagnosis when no recognizable syndrome is suspected. For this pilot project, we assessed the feasibility of next-generation sequencing as a tool to improve the diagnosis of rare diseases in newborns in the NICU.

Methods:

We retrospectively identified and prospectively recruited newborns and infants admitted to the NICU of the Children’s Hospital of Eastern Ontario and the Ottawa Hospital, General Campus, who had been referred to the medical genetics or metabolics inpatient consult service and had features suggesting an underlying genetic or metabolic condition. DNA from the newborns and parents was enriched for a panel of clinically relevant genes and sequenced on a MiSeq sequencing platform (Illumina Inc.). The data were interpreted with a standard informatics pipeline and reported to care providers, who assessed the importance of genotype–phenotype correlations.

Results:

Of 20 newborns studied, 8 received a diagnosis on the basis of next-generation sequencing (diagnostic rate 40%). The diagnoses were renal tubular dysgenesis, SCN1A-related encephalopathy syndrome, myotubular myopathy, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant intellectual disability syndrome type 7 and Denys–Drash syndrome.

Interpretation:

This pilot study highlighted the potential of next-generation sequencing to deliver molecular diagnoses rapidly with a high success rate. With broader use, this approach has the potential to alter health care delivery in the NICU.

[Correspondence] Preventing bloodstream infection in children: What’s the CATCH?

Ruth Gilbert and colleagues1 (April 23, p 1732) compared impregnated (heparin or minocycline-rifampicin) with non-impregnated central venous catheters in paediatric intensive care units. In their secondary analyses, antibiotic-impregnated central venous catheters reduced the risk of bloodstream infection compared with standard central venous catheters (hazard ratio 0·43, 95% CI 0·20–0·96), but did not reduce mortality.

Assisted reproduction: we need to talk

AMA President Dr Michael Gannon has called for the “mother of all debates” over the funding and regulation of assisted reproduction following revelations that a 63-year-old Tasmanian woman has become a first-time mother using IVF technology.

Dr Gannon criticised the mother’s decision to use IVF to conceive a child at such an advanced age as “selfish and wrong”, and said the community needed to consider carefully who should have access to assisted reproduction technology, and the consequences it can have for children, parents and broader society.

“As a community, we need to consider the rights of the child, the rights of society, the responsibilities of proper parenting, the health of the parents, the health risks to the child at birth and beyond, and the costs to the health system and the taxpayers that fund it,” the AMA President said. “This must not be narrowly viewed as a women’s rights issue. Nor is it about ageism.”

Dr Gannon, who is a Perth-based obstetrician, sparked a firestorm of comment after he responded to news of the birth by commenting on Twitter that the use of IVF to have a child so late in life was “madness”. He said the not only were women “not designed” to give birth in their 60s, but the decision disregarded the rights of the child and the burden on taxpayers.

Critics accused Dr Gannon of making a moral judgment about the mother and downplaying the role of the father, who is 78 years old.

But the AMA President said there were compelling medical, social, financial and ethical reasons for ensuring that such cases did not become commonplace.

Most IVF clinics in Australia do not offer treatment to women beyond the age of 53 years, and the Tasmanian mother went overseas to be impregnated with a donor embryo before returning to Australia and giving birth at 34 weeks at Melbourne’s Frances Perry House private hospital.

Dr Gannon said there was good reason why Australian IVF services would not treat a woman so late in life.

He said that from around the age of 30 years onward problems associated with pregnancy and birth gradually increased, including miscarriage, chromosomal abnormalities, pre-eclampsia and the risk of stillbirth: “None of this is avoidable, and no amount of anti-oxidant supplements or kale smoothies can arrest the inevitability of ageing”.

By the time women were in their 50s and 60s, the effect of ageing on their blood vessels meant they were more susceptible to blood clots, heart attacks and strokes – “a potentially high price to pay to have a baby”.

Dr Gannon said the baby, because it was born premature, also faced an elevated risk of health problems such as breathing difficulties and jaundice, and would be more vulnerable to chest infections, asthma, diabetes and hypertension later in life. Because it potentially missed out on crucial in utero brain development, the child could also experience learning problems and developmental delay.

Costs to society and taxpayers also needed to be considered, he said. It cost about $2500 a day to care for a baby in the Neonatal Intensive Care Unit, much of it subsidised by the taxpayer, and such demands diverted resources from other parts of an already-stretched health system.

He said the decision of couples denied IVF in Australia to seek treatment overseas was “not simply an expression of choice, or a case of ‘user pays’. The health system picks up the bill”.

Dr Gannon said the birth of a child to a 63-year-old mother was not what the pioneers of IVF had in mind when the developed the technology in the late 1970s.

“This amazing technology has brought much joy to many across the world. But just because medical science can do something does not mean we have to do it, or should do it,” he said. “Stories like this cannot become the norm. Let’s talk to Australian women and men about starting their families in their 20s, not normalise the dubious use of medical science and powerful hormones to wake the womb from its normal, physiological, post-menopausal sleep.”

Adrian Rollins

 

 

[Clinical Picture] Tungiasis: diagnosis at a glance

A 22-year-old Japanese woman presented to our hospital with a 10-day history of pain and a rash on her right first toe 10 days after a 2-week trip to Uganda, where she had stayed within Manafwa district. Although she had worn shoes and socks during student fieldwork she reported wearing sandals with no socks around the suburban guesthouse. On examination she had a yellowish-white nodule, 5 mm diameter, with a central black spot at the rim of her right first toenail (figure). We suspected stage 3 tungiasis and excised the nodule under local anaesthesia, during which we saw several eggs (figure), and also gave a tetanus toxoid booster.

[Editorial] Protocol disparities and research governance

To improve health, research should be reported fully and transparently. If this is not done, it is important to understand why, as discussed today in Correspondence about a trial of neurodevelopmental outcomes after anaesthesia in infancy. Article authors, Andrew Davidson and colleagues, respond to COMPare by explaining that the discrepancies in their reporting were minor errors of omission. Trial registry manager Lisa Askie recommends better updating of outcome details. Meanwhile, the COMPare website states that not only do journals not check for outcome switching, but they routinely permit it.

Contaminated mouth wash recalled

A common mouth wash and denture cleaner has been recalled after being blamed for a rash of infections among intensive care patients at a hospital.

Batches of Chlorofluor Gel, which is taken to help treat mouth infections and is often used as a post-operative treatment following teeth extraction and other oral surgery, have been found to be heavily contaminated with a bacteria that can cause serious infections in patients with chronic lung diseases such as cystic fibrosis.

The Therapeutic Goods Administration has called on all those with Chlorofluor Gel from with a batch number BK 119 to immediately stop using the preparation, and distributor Professional Dentist Supplies has undertaken a nationwide recall of the product.

The TGA said the contamination was discovered after a group of intensive care patients at an unnamed hospital were found to be colonised or infected with the bacterium Burkholderia cepacia.

Investigations found that Chlorofluor Gel used to treat the patients, as well as from unopened containers in the same batch, were contaminated with high levels of B. cepacia.  The contamination was found in all bottle sizes of the formula from the same batch.

The medicines watchdog said that although the bacterium posed little threat to healthy people, those with weakened immune systems, such as intensive care patients, might be more susceptible to infection and “at increased risk of associated health problems”.

“The effects of B. cepacia infection vary widely, ranging from no symptoms at all to serious respiratory infections, especially in patients with chronic lung diseases, such as cystic fibrosis,” the regulator said.

Chlorofluor Gel can be purchased over-the-counter, and those with products from the contaminated batch have been advised to return it to the place of purchase to get a refund, or to call Professional Dentist Supplies on 03 9761 6615 to arrange for the affected product to be collected and receive a refund.

Doctors treating patients who have used Chlorofluor Gel and who are showing signs of infection are being advised to include potential exposure to B. cepacia in clinical notes accompanying a pathology referral. The TGA said a test was unnecessary if patients were showing no signs of infection.

Adrian Rollins