Acrocallosal syndrome: a new case.

We describe a 2-month-old infant girl with typical clinical manifestations of the acrocallosal syndrome: characteristic face, agenesis of corpus callosum, polydactyly associated with other anomalies of the extremities, and mental retardation. The importance of a correct nosology and genetic counseling is underlined on the basis of the description of familiar cases of the syndrome.

X-linked mental retardation, microcephaly, and growth delay associated with hereditary bullous dystrophy macular type: report of a second family.

We report on 2 patients with mental retardation and bullous dystrophy, macular type. The observation of the condition in a male and his maternal uncle is consistent with recessive X-linkage. Due to the rarity of the condition, nosologic definition was difficult before the birth of the propositus. The clinical picture in the two patients described, characterized by mental retardation, dwarfism, microcephaly, alopecia, bullous dystrophy macular type, hypogenitalism, is very much like the one observed in the patients, all males, belonging to the only other family reported to date. The recent localization of the bullous dystrophy gene in the Xq24-qter segment opens the possibility of prenatal diagnosis.

[Spondylo-costal dysostosis: presentation of a new case with autosomal dominant heredity and discussion of problems in genetic counseling]. / Disostosi spondilo-costale: presentazione di un nuovo caso ad ereditarietà autosomica dominante e discussione delle problematiche della consulenza genetica.

The Authors report a new family with spondylo-costal dysplasia in which three members in three generation are affected. The genetic heterogeneity of the condition and its implication in genetic counseling is discussed.

Thromboelastography: might work in neonatology too?

AIM: To review the working principles of thromboelastography and evaluate the current knowledge about the possibility of its implementation in the neonatal intensive care unit setting. METHOD: Thorough search of the literature in the PubMed database (until May 31, 2012) concerning Thromboelastography (TEG) and/or Thromboelastometry (ROTEM) use in the newborn infant. RESULTS: Neonatal data are limited to a small number of healthy subjects and virtually absent in the extreme premature infant. Healthy newborns exhibit age dependent accelerated initiation and propagation of coagulation despite prolonged standard plasma coagulation test results, whereas clot firmness and fibrinolysis are similar to adult values. Several neonatal pathological conditions (e.g. sepsis; hypothermia) are linked with substantial changes in the thromboelastographic parameters. CONCLUSIONS: The current knowledge is too limited to express a definitive indication on the reliability of the use of viscoelastic point of care analyzer in the neonatal intensive care unit setting. However, their potential use not only as a diagnostic tool, but also to guide the transfusion therapy requires careful consideration.

Sevoflurane provides better recovery than propofol plus fentanyl in anaesthesia for day-care surgery.

To compare ease of maintenance and recovery characteristics of sevoflurane and propofol plus fentanyl in day-care anaesthesia, 60 outpatients undergoing elective surgery of up to 3 h duration were randomized to receive sevoflurane or propofol as their primary anaesthetic. Induction was always carried out with propofol, but a fentanyl bolus 5 microg kg-1 was added in the propofol group. Anaesthesia was supplemented with up to 70% N2O. Significantly shorter times to extubation (10.03 min +/- 3.2 SD vs. 17.2 +/- 7.3; P < 0.001) and emergence (10.4 +/- 3.1 vs. 16.8 +/- 6.4; P < 0.001) were observed in the sevoflurane group. Patients treated with sevoflurane felt less confused, showed better performances in the digit symbol substitution test and achieved higher modified Aldrete scores sooner in the post-operative course. Maintenance of anaesthesia with sevoflurane produces faster emergence and recovery than propofol plus fentanyl after anaesthesia of short to intermediate duration.

A clinical diagnosis of inadvertent epidural administration of potassium chloride.

We present a case of accidental epidural administration of potassium chloride, which was diagnosed by clinical signs. The genesis of symptoms and signs following such administration is discussed and compared with other published reports.

The Effect of Cromolyn Sodium and Nedocromil Sodium Administered by A pressurized Aerosol with A spacer Device on Exercise-Induced Asthma in Children.

To compare the effectiveness of cromolyn sodium (CS) (10 mg) and nedocromil sodium (NS) (4 mg) administered by a metered dose inhaler (MDI) with a spacer device in preventing exercise-induced asthma (EIA), eight asthmatic children with EIA were studied in a randomized double-blind, cross-over, placebo-controlled study, CS and NS provided significant, comparable protection from EIA and both were better than placebo. We conclude that CS and NS administered by a pressurized aerosol with a spacer device provide equal protection against EIA in children.

Salmeterol in exercise-induced bronchoconstriction in asthmatic children: comparison of two doses.

Since the optimal dose of salmeterol in asthmatic children has not yet been clearly defined, we compared the efficacy and duration of the protective effect of two doses of salmeterol (25 and 50 micrograms) against exercise-induced bronchoconstriction. Twelve children (aged 7-14 yrs) with asthma were studied in a double-blind, cross-over, placebo-controlled design. On three separate days, exercise tests were performed 1 h and 12 h after administration of the drug. Pulmonary function measurements were performed before drug inhalation, before every exercise test and 1, 5, 10, 15 and 30 min after the end of exercise. The response was expressed as maximal decrease in forced expiratory volume in one second (FEV1). Both doses of salmeterol provided significant bronchodilation for up to 12 h, with no difference between them. Maximal exercise-induced decrease in FEV1 (% fall) 1 h after pretreatment was (mean +/- SD) 35 +/- 16, 10 +/- 10 and 4 +/- 3% for placebo, 25 and 50 micrograms salmeterol, respectively. At 12 h after pretreatment these values were 31 +/- 14, 19 +/- 12 and 15 +/- 13%, respectively. Individual protection against exercise-induced bronchoconstriction at 1 and 12 h did not vary between the dosages (p < 0.05), even though the protection obtained by 25 micrograms at 12 h was no longer significant versus placebo. We conclude that 25 micrograms of inhaled salmeterol provides equally effective long-lasting bronchodilation and acute protection against exercise-induced bronchoconstriction as 50 micrograms, and may be a suitable dose for most asthmatic children.

CD3+/CD30+ circulating T lymphocytes are markedly increased in older subjects with Down's syndrome (Trisomy 21).

CD3+/CD30+ circulating T lymphocytes were found to be increased in the blood of individuals with Down's syndrome (DS; trisomy 21). This finding appears to be related to age as the numbers of CD3+/CD30+ T cells were dramatically enhanced in the circulation of older DS subjects. Since CD30 antigen expression is considered to be a marker of T-helper-2 (Th-2) activation, and Th-2+ cells are associated with certain human pathologies, our data may in some way explain the enhanced susceptibility of DS patients to infections, malignant diseases and autoimmunity.