OBJECTIVE-The purpose of this study was to examine associations between diabetes mellitus and 39 birth defects. STUDY DESIGN-This was a multicenter case-control study of mothers of infants who were born with (n = 13,030) and without (n = 4895) birth defects in the National Birth Defects Prevention Study (1997-2003). RESULTS-Pregestational diabetes mellitus (PGDM) was associated significantly with noncardiac defects (isolated, 7/23 defects; multiples, 13/23 defects) and cardiac defects (isolated, 11/16 defects; multiples, 8/16 defects). Adjusted odds ratios for PGDM and all isolated and multiple defects were 3.17 (95% CI, 2.20-4.99) and 8.62 (95% CI, 5.27-14.10), respectively. Gestational diabetes mellitus (GDM) was associated with fewer noncardiac defects (isolated, 3/23 defects; multiples, 3/23 defects) and cardiac defects (isolated, 3/16 defects; multiples, 2/16 defects). Odds ratios between GDM and all isolated and multiple defects were 1.42 (95% CI, 1.17-1.73) and 1.50 (95% CI, 1.13-2.00), respectively. These associations were limited generally to offspring of women with prepregnancy body mass index ≥25 kg/m 2. CONCLUSION-PGDM was associated with a wide range of birth defects; GDM was associated with a limited group of birth defects.

Background Mutations in the JARID1C (Jumonji AT-rich interactive domain 1C) gene were recently associated with X-linked mental retardation (XLMR). Mutations in this gene are reported to be one of the relatively more common causes of XLMR with a frequency of approximately 3% in males with proven or probable XLMR. The JARID1C protein functions as a histone 3 lysine 4 (H3K4) demethylase and is involved in the demethylation of H3K4me3 and H3K4me2. Methods Mutation analysis of the JARID1C gene was conducted in the following cohorts: probands from 23 XLMR families linked to Xp11.2, 92 males with mental retardation and short stature, and 172 probands from small XLMR families with no linkage information. Results Four novel mutations consisting of two missense mutations, p.A77T and p.V504M, and two frame shift mutations, p.E468fsX2 and p.R1481fsX9, were identified in males with mental retardation. Two of the mutations, p.V504M and p.E468fsX2, are located in the JmjC domain of the JARID1C gene where no previous mutations have been reported. Additional studies showed that the missense mutation, p.V504M, was a de novo event on the grandpaternal X chromosome of the family. Clinical findings of the nine affected males from the four different families included mental retardation (100%), short stature (55%), hyperreflexia (78%), seizures (33%) and aggressive behaviour (44%). The degree of mental retardation consisted of mild (25%), moderate (12%) and severe (63%). Conclusion Based on the clinical observations, male patients with mental retardation, short stature and hyperreflexia should be considered candidates for mutations in the JARID1C gene.

Since 1963, 11 cases have been reported in which both the acardiac twin and the "normal" co-twin were studied cytogenetically. Aneuploidy or polyploidy was clearly identified in the acardiac twin in 7 cases and in the co-twin in 1 case. We report on 2 additional twin pairs in which aneuploidy was associated with acephalus-acardia. In both cases the "normal" co-twin had a Klinefelter (47,XXY) karyotype. Chromosome analysis in the 2 acardiac twins documented a 47,XXY constitution in one and 94,XXXXYY anomaly in the other. One of the "normal" co-twins also had the VATER association. Given these data we would recommend chromosome analysis of both members of a twin pair when one has acephalus-acardia.

The superficial and deep body temperatures of 40 healthy females undergoing total abdominal hysterectomy were measured during surgery and for 4 h afterwards. The patients were allocated randomly to one of five groups and anaesthetized to produce an end-tidal concentration of 1% halothane, 1% enflurane, 2% enflurane, 1% isoflurane or 2% isoflurane. The patients received also 70% nitrous oxide in oxygen and neuromuscular blockade. The theatre temperature was maintained at 22.0 degrees C. There were significant body temperature changes during operation in all groups. The mean (SD) decrease in core temperature over 85 min was approximately 1.1 (0.3) degrees C in the 1% halothane, 2% enflurane and 2% isoflurane groups, and 0.6 (0.4) degrees C in the 1% enflurane and 1% isoflurane groups (P less than 0.05). During the recovery period the 1% halothane, 2% enflurane and 2% isoflurane groups took 2 h to rewarm to preoperative temperatures, and the rate of rewarming during this time was similar for all groups.

Summary Suction termination of pregnancy was performed in 276 patients as an out‐patient procedure under general anaesthesia. Ergometrine, oxytocin, or sterile water were given with the induction of anaesthesia. There was no significant difference in blood loss in the three treatment groups, although blood loss in termination of pregnancy performed after eight weeks was increased in all three groups. Nausea, vomiting and abdominal pain occurred significantly more often after ergometrine compared to oxytocin or water.

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SummaryThe effect of three anaesihetic rechniques on blood loss and intra-uterine pressure changes in response io Syntocinon were siudied in patients undergoing routine first trimester suciion termination of pregnancy. All patients received a siandard premedicaiion. a bolus dose of fentanyl. intravenous induction of anaesthesia and maintenance with niirous oxide and oxygen plus eiiher iniravenous supplementation or 0.5% halothane. Intra-uierine pressure was related to ihe anaesthetic iechnique used although blood loss was unrelaied either to anaesthetic technique or to intra-uterine pressure changes.

Introduction: Vitamin D has been show to play an important role as an immune modulator in addition to it's effect on cell cycle proliferation and metabolic functions. The purpose of this analysis was to evaluate the vitamin D status of kidney transplant recipients at the time of transplant and for up to a year of follow-up. Methods: We performed a retrospective chart review of 66 kidney transplant recipients from 1/2004 -10/2008 to assess 25-OH vitamin D status at the time of transplant and through one year of follow-up. Results: Five patients (7.6%) were 25-OH vitamin D sufficient (≥30ng/mL) at the time of transplantation, 20 patients (30.6%) were vitamin D insufficient (15-29ng/mL), and 41 patients (62.3%) were vitamin D deficient (<15ng/mL). Thirty-nine (59%) of the 66 patients had follow-up 25-hydroxyvitamin D levels monitored within one year after transplantation. As seen in the table, vitamin D status improved throughout follow-up. Only 15% of patients had lower vitamin D levels at follow-up compared to baseline. Of the 66 patients, 43 (65%) received ergocalciferol within the first 3 months after transplant. Twenty-six of the 43 patients (60%) had levels followed throughout the first year. At last follow-up, 8 (31%) had vitamin D sufficiency, 17 (65%) were vitamin D insufficient, and only 1 patient (4%) remained deficient. On average, 25-OH vitamin D was increased by 10 +/-10ng/mL. Six patients that did not receive ergocalciferol post-transplant had follow-up vitamin D levels. On average, they had no change in 25-OH vitamin D levels (0 +/-10). Two of the patients had positive increases in vitamin D levels, but the remaining four all had negative changes to their vitamin D. At the end of follow-up, 1 patient had vitamin D sufficiency, 3 had vitamin D insufficiency, and 2 had deficiency. No significant differences in rejection or infection at one year could be seen in regards to baseline vitamin D status in this small analysis. Conclusion: Vitamin D status is poor at the time of transplantation, but with treatment and monitoring, 25-OH vitamin D levels improve. However, most patients are either not managed or are still suboptimal. More complete monitoring and management is needed in this population. Prospective studies are needed to clarify the effects of vitamin D on graft function.