Prader-Labhart-Willi syndrome in infants

We report an infant with severe hypotonia, feeding problems and failure to thrive in the neonatal period, followed by developmental delay. In addition, pale skin, eyelid and pedal edema, cryptorchidism and micrognathia were present. The tentative diagnosis of Prader-Labhart-Willi syndrome was made and confirmed by specific molecular testing at the age of 5 months.The Prader-Labhart-Willi syndrome is usually diagnosed in older infants when the main clinical features such as obesity, short stature, hypogonadism and developmental delay become obvious, in most of the patients typical clinical features are present already in the neonatal period. In conclusion, in neonates and young infants presenting with hypotonia and feeding problems, the Prader-Labhart-Willi syndrome should be considered.     

Economic Evaluation of Exercise Training in Patients with Pulmonary Hypertension

Purpose

Exercise training as an add-on to medical therapy has been shown to improve exercise capacity, quality of life, and possibly prognosis in patients with pulmonary hypertension (PH). The purpose of this study was to analyze the impact of exercise training on healthcare costs in PH.

Methods

Estimated healthcare costs have been compared between patients with severe PH under optimized medical therapy only (control group) versus patients who received exercise training as an add-on to medical therapy (training group). Cost-analysis included a cost-estimation model of costs for baseline and follow-up visits and all PH-related healthcare events that occurred within the follow-up period. Time to clinical worsening and survival were assessed by clinical records, phone, and/or control visits.

Results

At baseline, the training (n = 58) and control group (n = 48) did not differ in age, gender, WHO-functional class, 6-min walking distance, hemodynamic parameters, or PH-targeted medication. During a follow-up of 24 ± 12 months, the training group had significantly better survival rates at 1 and 3 years and less worsening events (death, lung transplantation, hospitalization due to PH, new PAH-targeted medication) than the control group (15 vs. 25 events, p < 0.05), which also led to lower estimated healthcare costs of 657€ within a period of 2 years.

Conclusions

This is the first study to investigate the cost-effectiveness of exercise training in PH. Due to less worsening events within 2 years, healthcare costs were lower in patients performing exercise training as add-on to medical therapy than in patients with medical treatment only. Further prospective, randomized studies are needed to confirm these findings.     

Standard PAH therapy improves long term survival in CTEPH patients

Background

Chronic thromboembolic pulmonary hypertension (CTEPH), subsequent to pulmonary embolism is a relatively frequent cause of pulmonary hypertension. Similar to patients with pulmonary arterial hypertension (PAH), CTEPH carries a poor prognosis. There is no hard evidence for any other therapy except pulmonary endarterectomy and none for those patients that are not eligible for this procedure.

Patients and methods

Fifty patients with confirmed, inoperable CTEPH receiving specific vasodilative therapy (prostanoids, endothelin receptor antagonists, PDE 5-inhibitors or combination) were included in this retrospective study (mean age 55 years, range 16–76 years; 36 female, 14 male). Kaplan–Meier plots of these patients were compared with Kaplan–Meier plots of two historical CTEPH patient groups without any specific vasodilative treatment by log rank tests.

Results

CTEPH patients treated with specific vasodilative compounds as used for therapy of PAH were followed up for 52 ± 30 months and had a significantly improved survival compared with patients treated without PAH type vasodilators (p ≤ 0.0002).

Conclusion

Our data may generate the hypothesis that specific vasodilative treatment improves outcome in patients with inoperable CTEPH.     

High-resolution CT in the differential diagnosis of consolidative processes (I. Acute processes)

Consolidations are usually result of the replacement of the alveolar air by fluid, cells or tissue but these can also be seen with extensive interstitial processes. These diseases cannot be clearly categorized into the classic classification scheme of airspace and interstitial disease since there are features of both categories seen in the imaging and histologic findings. Because this definition includes wide variety of diseases with overlapping HRCT-findings it is difficult to distinguish among these entities with imaging criteria alone. However, integration of HRCT-findings and clinical findings may enable a narrower differential diagnosis. This review describes the most common types of lung diseases associated with acute appearance of consolidation and discuss the differential diagnosis.     

The Phagocytosis of Blood Leukocytes from Cystic Fibrosis Patients is not Impaired in General

Impaired phagocytosis of Pseudomonas aeruginosa was found in isolated monocytes of peripheral blood of cystic fibrosis patients, but not in their neutrophils, as reported some years ago. In the present study, we analysed the phagocytic capacity of peripheral blood neutrophils and monocytes of cystic fibrosis patients and of healthy controls. Phagocytosis was determined using a commercial phagocytosis “in whole blood” assay on the basis of fluorescence-labelled opsonized Escherichia coli bacteria and flow cytometry. Venous blood of cystic fibrosis patients and of healthy controls was collected and the phagocytosis assay was performed. No differences in the percentage of phagocytic cells or in the overall phagocytic capacity were found between samples of cystic fibrosis patients and healthy controls either in monocytes or in neutrophils. Thus, our results did not support the hypothesis of a generally reduced phagocytic ability in the peripheral blood immune cells of cystic fibrosis patients.

     

Tumour necrosis factor alpha promoter polymorphisms and etanercept therapy in juvenile idiopathic arthritis

The objective of this study was to investigate the influence of TNF-α promoter alleles on clinical response to etanercept therapy in JIA. TNF-α promoter polymorphisms at positions −163, −238, −244, −308, −376 were determined in 137 JIA patients treated with etanercept for at least 3 months. A PCR fragment of about 500 bp of the TNF gene promoter was amplified. Polymorphisms were detected by a single sequencing procedure. Patients with the genotype −308GG achieved an ACR-JRA 30 response at month 6 more frequently than patients with the genotype −308GA or AA. This was already notable at month 3 of therapy. This difference in the total patient group is attributable to the JIA subgroup with rheumatoid factor negative polyarthritis. In this subgroup, patients with the −308GG genotype achieved an ACR-JRA 30 response more frequently than those with the −308GA or AA genotype (84 vs. 33% at months three, P < 0.01, 93 vs. 67% at months six, P < 0.05). There was no influence of the −238 TNF-α promoter alleles on clinical response. The rare alleles at position −376 or at positions −163 and −244 were too infrequent. There is an association between TNF gene promoter polymorphisms and response to etanercept in rheumatoid factor negative polyarticular JIA.