The determination of spontaneous megakaryocyte colony formation is an unequivocal test for discrimination between essential thrombocythaemia and reactive thrombocytosis

Summary. Spontaneous colony formation from bone marrow megakaryocyte progenitors (BMsCFU-Mk) was studied in 24 patients with essential thrombocythaemia (ET), 20 patients with reactive thrombocytosis (RT), 20 patients with polycthaemia rubra vera with thrombocytosis (PRVtr), 16 patients with chronic myeloid leukaemia with thrombocytosis (CMLtr) and 18 normal control subjects (C).
The culture medium which was used in the methylcellu-lose assay in vitro contained 30% of plasma from a single patient with hereditary haemochromatosis. Remarkable BMsCFU-Mk growth was recorded in all patients with ET but in none with RT or in C. BMs-CFU-Mk were present in 11/20 patients with PRVtr and 7/16 patients with CMLtr.
Spontaneous bone marrow erythroid progenitors (BMsBFU-E) were also determined in these patients. BMsBFU-E were found in 21/24 patients with ET and none in the patients with RT and C. All patients with PRVtr and one patient with CMLtr showed BMsBFU-E.
We conclude that our implementation of the in vitro methylcellulose assay allows the BMsCFU-Mk to be used as an unequivocal test for discrimination between ET and RT which has not been shown in previously published studies.
In addition, we present evidence that in 10 patients BMsCFU-Mk and/or BMsBFU-E growth in the test persisted after long-lasting haematological remission.     

Reduced-dose rocuronium for day-case tonsillectomy in children where volatile anaesthetics are not used: operating room time saving

Objectives: Mivacurium, rocuronium, and vecuronium are neuromuscular blocking agents (NMB) commonly used in pediatric day‐case anesthesia. Mivacurium is the most appropriate NMB for short surgical procedures where NMB drugs were required but is not available in all countries. Aim: We evaluated the operating room time minimization after reduced‐dose rocuronium (0.45 mg·kg^?1) during elective day‐case tonsillectomy in children. Methods/Materials: One hundred and five children (6–9 years, ASA I/II status) scheduled for day‐case tonsillectomy were included in prospective, double blind clinical study. Children were randomly divided in three equal groups. All children were premedicated (midazolam 0.25 mg·kg^?1 orally, EMLA). Anesthesia was induced (2.5 mg·kg^?1) and maintained (0.1 mg·kg^?1·min^?2) by propofol and alfentanil (0.0015 mg·kg^?1·min^?1) and supplemented by inhalation mixture of 50% of O2/Air. Neuromuscular block was achieved by vecuronium (0.1 mg·kg^?1) (V) or rocuronium in standard (0.6 mg·kg^?1) (R) or reduced dose (0.45 mg·kg^?1) (LD). Neuromuscular transmission was monitored by acceleromyography. Time analysis of NMB drugs action was performed. Results: Time difference from the end of tonsillectomy to T90 neuromuscular block recovery was significantly shorter in LD Group (7.3 ± 0.41 min), (V = 15.9 ± 1.06, R = 16.0 ± 1.7 min) (P = 0.0011). The onset time of neuromuscular block was prolonged in LD Group (LD=3.1 ± 0.4, R = 1.3 ± 0.4, V = 2.2 ± 0.2 min) (P = 0.0039) without changing the intubating conditions. The maximum operation room time saving per each tonsillectomy was 37% in LD Group (Group V 21%, Group R 17%) (P = 0.0001). Low incidence of postoperative nausea and vomiting (PONV) 3–6% (0.4577) and good visual analog scale (VAS) score (≤2) (0.5969) were found in all study groups 12 h after surgery. Conclusions: Reduced‐dose rocuronium in addition with propofol and alfentanil in children where volatile anesthetics are not used effectively saves the operating room time during short elective surgical procedures, avoids delays in patient recovery, allows high level of acceptable intubating conditions, and improves the optimal surgical work. Low incidences of PONV as VAS score may achieved successfully.     

Serum and cerebrospinal fluid zinc levels in children with febrile convulsions

The mechanisms underlying febrile convulsions (FC), which have multiple etiological factors, are not yet clear. The aim of the present study was to determine whether there were any changes in serum and cerebrospinal fluid (CSF) zinc (Zn) levels in children with febrile convulsion during seizures. A total of 102 children were included in the study, with four groups formed as follows: group A, 40 children with FC (aged 9 months to 5 years); group B, 20 children having fever without convulsion (aged 6 months to 5 years); group C, 20 children with afebrile convulsion (aged 6 months to 6 years) and group D, 22 healthy children (aged 5 months to 6 years). Serum and CSF zinc levels for groups A, B and C and serum Zn levels only for group D were measured. The serum Zn levels of 17 children in group A were again measured during healthy periods. Serum Zn levels of groups A, B, C and D had a mean of 0.70 ± 0.10 mg/dL, 1.07 ± 0.08 mg/dL, 1.26 ± 0.32 mg/dL and 1.17 ± 0.21 mg/dL, respectively, and the values of group A were lower than those of the other three groups (P < 0.001). In group B, serum Zn levels were also lower than those of groups C and D (P < 0.05). The CSF Zn levels of groups A, B and C were found to have a mean of 0.07 ± 0.02 mg/L, 0.12 ± 0.02 mg/L and 0.14 ± 0.04 mg/L, respectively. In group A, the CSF Zn levels were lower than those of groups B and C (P < 0.001), and in group B they were lower than those of group C (P < 0.05). For the 17 patients in group A, serum Zn levels during healthy periods (0.87 ±0.10 mg/dL) were found to be higher than the values shortly after seizures, but lower than those of groups B, C and D (P < 0.001). We could not observe any relationship between zinc levels of the serum and CSF and the degree and duration of the fever. These findings suggest that serum and CSF Zn levels decreased during infectious diseases, and that this decrease was more significant in patients with FC.     

Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency

Molybdenum cofactor (MoCo) deficiency is a rare autosomal recessive inherited metabolic disorder resulting in the combined deficiency of aldehyde oxidase, xanthine dehydrogenase, and sulfite oxidase. We report a male infant with MoCo deficiency whose clinical findings consisted of microcephaly, intractable seizures soon after birth, feeding difficulties, and developmental delay. Sequencing of MOCS1, MOCS2, and GEPH genes, and single nucleotide polymorphism genotyping array analysis showed, to our knowledge, unusual inheritance of MoCo deficiency/maternal uniparental isodisomy for the first time in the literature. At 10 months of age, he now has microcephaly and developmental delay, and his seizures are controlled with phenobarbital, clonozepam, and vigabatrin therapy.