Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.

Congenital central hypothyroidism occurs either in isolation or in conjunction with other pituitary hormone deficits. Using exome and candidate gene sequencing, we identified 8 distinct mutations and 2 deletions in IGSF1 in males from 11 unrelated families with central hypothyroidism, testicular enlargement and variably low prolactin concentrations. IGSF1 is a membrane glycoprotein that is highly expressed in the anterior pituitary gland, and the identified mutations impair its trafficking to the cell surface in heterologous cells.

Utilisation of preconception care in women with pregestational diabetes in Western Australia.

This study investigated the level of awareness of the availability of preconception care in a tertiary obstetric hospital for women with type 1 and 2 diabetes, the willingness of these women to attend for preconception counselling and the barriers that may impact upon access to preconception care in Western Australia. The results show greater effort is needed to improve the awareness of women about the importance of preconception care and their willingness to attend the clinic. Access to consistent preconception care should be available for all women with diabetes.

In search of clinical neuroprotection after brain ischemia: the case for mild hypothermia (35 degrees C) and magnesium.

Background And Purpose: Brain injury after stroke and other cerebral ischemic events is a leading cause of death and disability worldwide. Our purpose here is to argue in favor of combined mild hypothermia (35 degrees C) and magnesium as an acute neuroprotective treatment to minimize ischemic brain injury.

Methods: Drawing on our own experimental findings with mild hypothermia and magnesium, and in light of the moderate hypothermia trials in cardiac arrest/resuscitation and magnesium trials in ischemic stroke (IMAGES, FAST-Mag), we bring attention to the advantages of mild hypothermia compared with deeper levels of hypothermia, and highlight the existing evidence for its combination with magnesium to provide an effective, safe, economical, and widely applicable neuroprotective treatment after brain ischemia.

Advances in the development of wire mesh reactor for coal gasification studies.

In an effort to further understand the coal gasification behavior in entrained-flow gasifiers, a high pressure and high temperature wire mesh reactor with new features was recently built. An advanced LABVIEW-based temperature measurement and control system were adapted. Molybdenum wire mesh with aperture smaller than 70 mum and type D thermocouple were used to enable high carbon conversion (>90%) at temperatures >1000 degrees C.

Magnesium treatment and spontaneous mild hypothermia after transient focal cerebral ischemia in the rat.

There is evidence from global cerebral ischemia experiments in the rat that the neuroprotection attributable to magnesium treatment depends on the concurrent presence of at least mild hypothermia. We set out to determine to what extent spontaneous hypothermia occurred after transient middle cerebral artery occlusion in the rat, and whether this hypothermia influenced the outcome of magnesium treatment. We found that rectal temperatures from 30 min to 3h after recovery from anaesthesia/surgery were 1 °C lower than in the period from 4 to 6h.

Post-ischemic modest hypothermia (35 degrees C) combined with intravenous magnesium is more effective at reducing CA1 neuronal death than either treatment used alone following global cerebral ischemia in rats.

In this study, we investigated the efficacy of pre- and 2 h post-ischemic magnesium treatment with different durations of modest hypothermia (35 degrees C) induced immediately or 2 h following global cerebral ischemia in rats. In experimental group 1, rats received an intravenous loading dose (LD) of 360 micromol/kg MgSO4 immediately before ischemia followed by a 48 h intravenous infusion (IVI) at 120 micromol/kg/h. Immediately post-ischemia, body temperature was lowered to 35 degrees C for 6 h or maintained at 37 degrees C.

Intravenous administration of magnesium is only neuroprotective following transient global ischemia when present with post-ischemic mild hypothermia.

We hypothesized that post-ischemic hypothermia plays an important role in magnesium mediated neuroprotection following global cerebral ischemia. To test this hypothesis, we subjected rats to 8 min of global cerebral ischemia and magnesium treatment with and without post-ischemic body temperature maintenance. In Group 1, rats received an intravenously administered loading dose (LD) of 360 micromol/kg MgSO4 immediately before ischemia followed by a 48-h intravenous infusion (IVI) at either 60, 120 or 240 micromol/kg/h.

Magnesium sulfate fails to reduce infarct volume following transient focal cerebral ischemia in rats.

Studies on the neuroprotective effect of magnesium treatment in animal models of focal and global cerebral ischemia have produced inconsistent results. Nevertheless, two magnesium acute stroke phase III trials (IMAGES and FAST-MAG) have either been completed or are planned. Therefore, we decided to re-evaluate the efficacy of magnesium following focal cerebral ischaemia in rats.