[Severe Head Injury in Childhood: the Importance of Early Offensive Therapy]. / Závazné kraniotrauma v detském veku: význam vcasné ofenzivní terapie.

The case report presents the case of a five-year-old boy who fell off a scooter and sustained a blow to the left temporal region of his head. During a CT examination in the district hospital he suddenly showed a deterioration in the level of consciousness. Subsequent treatment along with transport to a specialized department were aimed at preventing secondary pathological changes and maintaining pressure-volume homeostasis of the brain. High-quality controlled ventilation with effective pharmacotherapy and gentle transport were essential. At the target specialized department, cerebral oedema in the left temporal region and aspiration in the right upper lung lobe were identified. The boy was extubated after 6 hours of controlled ventilation and discharged to an intermediate care bed two days later without any serious consequences. Key words: cerebral oedema, haemodynamic swelling, severe head injury.

BILATERAL AMYLOIDOSIS OF THREE EYELIDS. A CASE REPORT.

AIM: To present rare form of lids amyloidosis, in the context with literature and remind a Czech professor Vrabec, F., MD, an important pan-European ocular histologist. CASE REPORT: 37 years aged man was examined for eyelids mass on the department of ophthalmology of the Teaching Hospital Kralovske Vinohrady, Prague, Czech Republic in June 2018. The finding looked like chronic chalazion on the right side and chronic hordeolum on the left side. No acute phase was noted within last several months by the patient. Yellowish to lightly brown friable, partially transparent mass was obtained by excision. Amyloidosis of the AL type was revealed histologically, and diagnosis was followed by extended excision and plastic surgical reconstruction of the lower eyelids on both sides. No systemic disease underlying the amyloidosis was disclosed by following through diagnostic work-up of the patient. RESULTS: Amyloidosis was illustrated initially by Congo red staining with characteristic dichroism in the polarized light, then it was analysed immunohistochemically, with positivity for kappa light chains. Systemic amyloidosis was excluded, as well as monoclonal gamapathy. Only slightly increased number of plasmacytes (up to 10 %) was revealed in the bone marrow biopsy. The surgical solution was optimal for the patient, and he was without any recurrence and problems of lower eyelids three years. CONCLUSION: Described case of bilateral eyelids amyloidosis without underlying systemic disease belongs to rare cases and also illustrates necessity of complex interdisciplinary cooperation in the diagnostic process.

Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review.

Biallelic variants in the NARS2 gene are the cause of a continuous spectrum of neurodegenerative disorders presenting with various severity-from spastic paraplegia, progressive neurodegeneration to Leigh and Alpers syndrome. Common clinical signs result from a mitochondrial dysfunction based on OXPHOS deficiency. Here, we present a patient with infantile-onset severe epilepsy leading to fatal refractory status epilepticus. Whole exome sequencing with Exomiser analysis based on HPO terms detected two novel NARS2 variants in a compound heterozygous state. To date, 18 different NARS2 disease-causing mutations have been described. Our study adds to the understanding of this mitochondrial disorder.

Outcome of invasive mechanical ventilation after pediatric allogeneic hematopoietic SCT: results from a prospective, multicenter registry.

Exact data on prognosis of children receiving invasive mechanical ventilation (IMV) after allogeneic hematopoietic SCT (HSCT) is lacking. We therefore started a prospective registry in four European university HSCT centers (Leiden, Paris, Prague and Utrecht) and their pediatric intensive care units (PICUs). The registry started in January 2009. In January 2013, the four centers together had treated a total of 83 admissions with IMV. The case fatality rate in these patients was 52%. Mortality 6 months after PICU discharge was 45%. There were significant differences between centers in the proportion of children who received IMV after HSCT (6-23%, P<0.01), in severity of disease on admission to PICU (predicted mortality 14-37%, P<0.01), in applying noninvasive ventilation before IMV (3-75% of admissions, P<0.01) and in the use of renal replacement therapy (RRT) (8-58% of admissions, P<0.01). Severe impairment in oxygenation, use of RRT and CMV viremia were independent predictors of mortality. Our study shows that mortality in children receiving IMV after HSCT remains high, but has clearly improved compared with older studies. Patient selection and treatment in PICU differed significantly between centers, which underscores the need to standardize and optimize the PICU admission criteria, ventilatory strategies and therapies applied in PICU.

Low-dose thalidomide regimens in therapy of relapsed or refractory multiple myeloma.

Thalidomide has been estimated as a useful drug in therapy of refractory or relapsed multiple myeloma. Recently, several studies have shown very good results in therapy combination of thalidomide, cyclophosphamide and dexamethasone, but still high doses of thalidomide associated with serious adverse events have been used. In our study, we performed low-dose thalidomide regimens; the aim of this study was to verify the effect and to assess their toxicity. For younger patients up to 65 years we used a "CTD-junior" regimen, consisting of oral thalidomide 200 mg daily, pulsed intravenous cyclophosphamide 800 mg on day 1 and pulsed oral dexamethasone 40 mg on days 1-4 and 12-15, for every three weeks. For patients over 65 years, the "CTDsenior" regimen was used, with oral thalidomide 50-100 mg daily (according to tolerability), oral cyclophosphamide 50 mg daily and pulsed dexamethasone 20 mg on days 1-4 and 15-18, for every four weeks. From the group of 97 patients with progressive form of multiple myeloma or with resistance to conventional chemotherapy, 85 patients were evaluated. According to the EBMT criteria, we observed in 8% complete remission (CR), in 50% partial response (PR) and in 22% minimal response (MR). Ten patients (12%) were stabilized and seven patients (8%) progressed. Toxicity of both regimens was mild and well manageable, when weakness, obstipation, neuropathy of lower extremities, glycoregulation worsening and mild leucopenia occurred most often. These results showed that low doses of thalidomide are still effective, when combined with other drugs. Both CTD regimens are safe also for patients with advanced and heavily pretreated multiple myeloma.

The nasal air sampler: a device for sampling inhaled aeroallergens.

OBJECTIVE: The object is to design, develop, and test a personal aerosol sampling device consisting of impaction samplers worn just inside the nostrils, driven by the wearer's respiration. The device provides a novel and unique measure of individual exposure to aeroallergens. It was conceived as an integral part of an allergen diagnostic system, in which collected aerosols are immunostained with monoclonal antibodies or the patient's IgE and associated particles positively identified using techniques of image analysis. METHODS: Each sampler comprises a slot impactor with a detachable impaction plate covered with either a specially developed medical adhesive or a protein-binding membrane. Sampler performance has been validated by rig tests of aerodynamic resistance and collection efficiency of different sized particles at various flow rates. There have also been field trials with human subjects which show that the sampler can be comfortably worn for periods of up to 4 hours. This is sufficient to gather a representative sample of inhaled allergens in most environments. RESULTS: The sampler collects an increasing proportion of particles in the inhalable range at and above 5 microm. This includes most bioaerosols of interest to allergists. Sampler prototypes have been built by CNC mill and stereolithography. Batches of samplers have been molded in biocompatible materials for field and clinical trials. CONCLUSIONS: The device successfully collects aeroallergens from a patient's own respiration. While developed specifically as a vehicle for the allergen diagnostic system, it can be adapted for studies of other aspects of air quality or for prophylactic use.