Dornase alpha inhalations as a treatment option for recurrent lower respiratory tract infections in a child with Sotos syndrome.

Recurrent episodes of lower respiratory tract infections (LRTIs) are a rare complication of muscular hypotonia in patients with Sotos syndrome. We report on a male child suffering from repeated LRTIs including bronchitis, pneumonia, and atelectasis during infancy despite inhalations with salbutamol and fluticasone combined with manual chest percussion therapy. After initiation of dornase alpha inhalations in addition to the current treatment, we observed an improvement in the respiratory symptoms as well as a reduction in the rate of hospitalizations and in the occurrence of LRTIs. We assume that dornase alpha inhalations, in combination with airway clearance techniques, reduced the viscosity of airway secretions and by this improved mucociliary clearance and coughing efficiency.

[Current diagnostic requirements in chronic myeloid leukemia]. / Aktuelle Anforderungen an die Diagnostik bei chronisch myeloischer Leukämie.

In patients with chronic myeloid leukemia, high-quality diagnostics is of paramount importance for the surveillance of treatment efficacy. The availability of new tyrosine kinase inhibitors providing more rapid and deeper responses requires the employment of standardized and highly sensitive diagnostic methods to ensure optimal monitoring of the patients. This review presents the current international diagnostic standards and the certified laboratories in Austria.

Gastrointestinal stromal tumors: diagnosis, therapy and follow-up care in Austria.

Optimal treatment for patients suffering from gastrointestinal stromal tumors (GIST) is based on an interdisciplinary treatment approach. Austrian representatives of Medical and Surgical Oncology, Pathology, Radiology, Nuclear Medicine, Gastroenterology, and Laboratory Medicine issued this manuscript on a consensual base within the context of currently available and published literature. This paper contains guidelines and recommendations for diagnosis, therapy, and follow-up of GIST patients in Austria.

Skip metastases in osteosarcoma: experience of the Cooperative Osteosarcoma Study Group.

PURPOSE: The outlook for patients with osteosarcoma who present with synchronous regional bone metastases (skip metastases), either in the primary bone site or transarticular, is considered to be extremely poor. This study was conducted to further investigate the prognostic implication of skip metastases in osteosarcoma. PATIENTS AND METHODS: The authors retrospectively analyzed the collected data of 1,765 consecutive patients with newly diagnosed high-grade osteosarcoma of bone who were registered in the neoadjuvant Cooperative Osteosarcoma Study Group studies and identified 24 patients (1.4%) with unequivocally proven skip metastases. All 24 patients were treated by an aggressive surgical approach coupled with polychemotherapy. Demographic, diagnostic, tumor, and treatment-related variables and response and survival data were analyzed. RESULTS: Skip metastases were identified preoperatively in 11 of 24 patients by bone scan, eight of 22 patients by plain x-ray, 15 of 18 patients by magnetic resonance imaging, and five of 10 patients by computed tomography. A complete surgical remission (CSR) of all clinically detectable tumor sites was achieved in 22 of 24 patients during front-line therapy. With a median follow-up time of 4.4 years (8 years for survivors) from diagnosis, 12 patients were alive, all of whom were in continuous CSR. Survival did correlate with location of skip metastases and histologic response to neoadjuvant chemotherapy. CONCLUSION: Synchronous regional bone metastases are rare in osteosarcoma, and preoperative detection relies on appropriate diagnostic imaging. Aggressive multimodal therapy holds the promise to achieve prolonged survival, especially in patients in whom these metastases occur within the same bone as the primary lesion and whose tumors respond well to chemotherapy.

IVIG treatment of adenovirus infection-associated macrophage activation syndrome in a two-year-old boy: case report and review of the literature.

A 2-year-old boy with severe multiorgan disease (i.e., otitis, enteritis, bilateral pneumonia, encephalopathy, myocarditis, rash) was diagnosed with adenovirus-associated macrophage activation syndrome according to clinical and laboratory parameters (fever, hepatosplenomegaly, bicytopenia, hyperferritinemia, hypertriglyceridemia). He had no unusual history of earlier infections or a family history of hemophagocytic syndrome or immune defects. Intravenous immunoglobulin was administered to prevent exacerbation of the suspected incipient hemophagocytic syndrome. Clarithromycin, a macrolide with immunomodulatory effect, was included in the antibiotic regimen of the progressive pneumonia, followed by rapid amelioration and remission of clinical and laboratory findings. Causal links between treatment and clinical improvement are discussed and a brief review of the recent literature is included.

Primary metastatic osteosarcoma: presentation and outcome of patients treated on neoadjuvant Cooperative Osteosarcoma Study Group protocols.

PURPOSE: To determine demographic data and define prognostic factors for long-term outcome in patients presenting with high-grade osteosarcoma of bone with clinically detectable metastases at initial presentation. PATIENTS AND METHODS: Of 1,765 patients with newly diagnosed, previously untreated high-grade osteosarcomas of bone registered in the neoadjuvant Cooperative Osteosarcoma Study Group studies before 1999, 202 patients (11.4%) had proven metastases at diagnosis and therefore were enrolled onto an analysis of demographic-, tumor-, and treatment-related variables, response, and survival. The intended therapeutic strategy included pre- and postoperative multiagent chemotherapy as well as aggressive surgery of all resectable lesions. RESULTS: With a median follow-up of 1.9 years (5.5 years for survivors), 60 patients were alive, 37 of whom were in continuously complete surgical remission. Actuarial overall survival rates at 5 and 10 (same value for 15) years were 29% (SE = 3%) and 24% (SE = 4%), respectively. In univariate analysis, survival was significantly correlated with patient age, site of the primary tumor, number and location of metastases, number of involved organ systems, histologic response of the primary tumor to preoperative chemotherapy, and completeness and time point of surgical resection of all tumor sites. However, after multivariate Cox regression analysis, only multiple metastases at diagnosis (relative hazard rate [RHR] = 2.3) and macroscopically incomplete surgical resection (RHR = 2.4) remained significantly associated with inferior outcomes. CONCLUSION: The number of metastases at diagnosis and the completeness of surgical resection of all clinically detected tumor sites are of independent prognostic value in patients with proven primary metastatic osteosarcoma.

Successful treatment of recalcitrant cutaneous sarcoidosis with fumaric acid esters.

BACKGROUND: Sarcoidosis is a multisystem disease of unknown origin characterized by the formation of noncaseating granulomas, in particular in the lungs, lymph nodes, eyes, and skin. Systemic treatment for cutaneous sarcoidosis can be used for large disfiguring lesions, generalized involvement, or recalcitrant lesions that did not respond to topical therapy. CASE PRESENTATIONS: We report three patients with recalcitrant cutaneous sarcoidosis who were treated with oral fumaric acid esters (FAE). Three female patients presented with cutaneous sarcoidosis that have proved to be refractory to various therapies, including corticosteroids and chloroquine. We treated the patients with FAE in tablet form using two formulations differing in strength (Fumaderm initial, Fumaderm). Dosage of FAE was performed according to the standard therapy regimen for psoriasis patients. After treatment with FAE (4-12 months), a complete clearance of skin lesions was achieved in the three patients. The side effects observed in this trial correspond to the well-known spectrum of adverse effects of FAE (flush, minor gastrointestinal complaints, lymphopenia). CONCLUSIONS: On the basis of our findings FAE therapy seems to be a safe and effective regimen for patients with recalcitrant cutaneous sarcoidosis. Nevertheless further investigations are necessary to confirm our preliminary results.