Daytime sleep in myotonic dystrophy is not caused by sleep apnoea.

Daytime sleepiness is common in myotonic dystrophy and might be attributed to disturbed nocturnal breathing. Seventeen out of 22 patients complained of excessive daytime sleepiness, resembling "idiopathic hypersomnolence". Sleep apnoea might have contributed to daytime sleepiness in only three of 17 patients. Treatment with the central stimulant methylphenidate produced sustained benefit in seven out of 11 patients tested. Daytime sleepiness in myotonic dystrophy is usually caused by dysfunction of central sleep regulation and not by disturbed nocturnal breathing.     

Automated analysis of near-term antepartum fetal heart rate in relation to fetal behavioral states: the Sonicaid System 8000.

Fetal heart rate and fetal movements were recorded in 16 uncomplicated near-term pregnancies. The recordings were used to evaluate a system for automated fetal heart rate analysis (Sonicaid System 8000). Fetal rest-activity patterns were considered in the analysis. The mean duration of C2F periods "active sleep," 33 minutes) was significantly greater than that of C1F periods ("quiet sleep," 19 minutes) (p less than 0.001). The incidence of accelerations and decelerations and the overall fetal heart rate variations were greater during C2F than during C1F (p less than 0.001). In 11 of 16 C1F periods, the system classified the fetal heart rate variation as "questionable" or "abnormal." Episodes of high variation were identified in only 3 of 16 C1F periods, but they were found in all 18 C2F periods. Episodes of low variation were identified in 14 of the 16 C1F periods but were not found in any C2F periods. During C2F periods, the system's criteria of normality were met in all cases but one; they were not met during any of the C1F periods. Thus the diagnosis of fetal distress should not be based merely on the absence of accelerations, low fetal heart rate variation, or absence of episodes of high variation in recordings with a duration of less than 45 minutes.     

<Superscript>68</Superscript>Ga-PSMA PET-CT Imaging of Metastatic Adenoid Cystic Carcinoma

A patient with a history of adenoid cystic carcinoma of the nasal cavity presented himself with bone pain and an elevated PSA level. On suspicion of metastatic prostate cancer a ⁶⁸Ga-PSMA PET-CT was performed. The PET-CT showed numerous lung and non-sclerotic bone metastasis. Biopsy of a bone metastasis was performed and pathology showed adenoid cystic carcinoma instead of prostate cancer. Immunohistochemical PSMA staining of the primary tumour showed intense PSMA expression in adenoid cystic carcinoma tumour cells. Because of the high PSMA expression of adenoid cystic carcinoma, ⁶⁸Ga-PSMA PET-CT might be a promising imaging modality for this malignancy.     

The East African food crisis: did regional early warning systems function?

This opinion paper evaluates the early warning regional systems in East Africa in 2010 and 2011 and their abilities to predict and warn about the current food insecurity crisis. It provides information on which systems worked and which did not. It explains the potential reasons why and provides future recommendations. Finally, it notes that many organizations/systems assess only individual countries and thus are not able to see the larger regional picture and, therefore, the wider implications of the crisis and response.     

Highly Variable Plasma Concentrations of Voriconazole in Pediatric Hematopoietic Stem Cell Transplantation Patients

Invasive fungal infections are of great concern in pediatric hematopoietic stem cell transplantation (HSCT) recipients. Voriconazole is usually the drug of first choice for treating or preventing invasive aspergillosis. Optimum trough levels (C_troughs) are between 1 and 5 mg/liter. It is unclear whether these levels are reached with currently advised pediatric dosing schedules. Between 2007 and 2011, 11 patients <2 years of age, 31 between 2 and 12 years, and 20 between 12 and 20 years were (prophylactically or therapeutically) treated with voriconazole in the HSCT unit of UMC Utrecht. For children <2 years of age, the dosage recommended for 2 to 12 years was used. In 34% of children who started with the recommended dose, an adequate C_trough was reached irrespective of age or administration route. After therapeutic drug monitoring (TDM)-based dose adjustments, adequate C_troughs were reached in 80% of the patients at median doses of 31.5 (age, <2 years), 16 (age, 2 to 12 years), and 9.4 mg/kg of body weight/day (age, >12 years) (P = 0.034). The intrapatient variability in C_trough ranged between 1 and 238%. Voriconazole was discontinued in six patients due to toxicity. These patients had a median C_trough of 0.5 mg/liter at the initial dose (ranging from 0.5 to 2.6 mg/liter), and a medium maximal concentration of 4 mg/liter was reached. Inter- and intrapatient variability is a major concern in voriconazole treatment and necessitates therapeutic drug monitoring of dosing, especially in young children.     

Complex carbohydrates in the dietary management of patients with glycogenosis caused by glucose-6-phosphatase deficiency

Carbohydrates with digestion characteristics between those of lente uncooked starches and rapidly digestible oligosaccharides were administered in a dose of 1.5 g/kg body weight to five patients with glycogenosis from glucose-6-phosphatase deficiency. Postprandial duration of normoglycemia and concentrations of blood insulin and lactate were determined. Uncooked barley groats in water, or incorporated in a meal turned out to behave as lente carbohydrates. Uncooked couscous in water, couscous incorporated in a meal, and partially cooked macaroni given as a meal behaved as semilente carbohydrates as compared with uncooked cornstarch and glucose. The in vitro determination of the digestibility index along with the in vivo tolerance test enables us to choose and incorporate semilente carbohydrates in the day-time treatment of patients.     

Preliminary clinical results of Descemet membrane endothelial keratoplasty

PURPOSE: To describe the preliminary clinical results of selective transplantation of organ cultured, donor Descemet membrane (DM) carrying autologous corneal endothelium through a 3.5-mm incision, tentatively named Descemet membrane endothelial keratoplasty (DMEK), for the management of corneal endothelial disorders. DESIGN: Nonrandomized clinical study. METHODS: In 10 patients with Fuchs endothelial dystrophy or pseudophakic bullous keratopathy, DMEK was performed. A 3.5-mm clear corneal tunnel incision was made, the anterior chamber was filled with air, and DM was stripped off from the posterior stroma. A 9.0-mm diameter DM roll was harvested from an organ cultured donor corneo-scleral rim, and inserted into a recipient anterior chamber. The donor tissue was gently unfolded, positioned onto the posterior stroma, and secured by completely filling the anterior chamber with air for 30 minutes. RESULTS: At one month, six eyes had a best-corrected visual acuity of 0.5 (20/40) or better, and three eyes reached 1.0 (20/20). At six months, the endothelial cell density averaged 2030 (+/-373) cells/mm(2) (n = 7). Three eyes showed a complete detachment of the donor tissue in the early postoperative course that was managed by removal of the transplant and a secondary Descemet stripping endothelial keratoplasty procedure. CONCLUSION: DMEK may have potential to become the most preferable technique to manage corneal endothelial disorders, because it provides quick and nearly complete visual rehabilitation. Because the donor tissue required can be prepared from organ cultured corneo-scleral rims, the procedure may be readily accessible to most corneal surgeons.