Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance.

Pulmonary alveolar proteinosis (PAP) is a potentially fatal complication of lysinuric protein intolerance (LPI), an inherited disorder of cationic amino acid transport. The patients often present with mild respiratory symptoms, which may rapidly progress to acute respiratory failure responding poorly to conventional treatment with steroids and bronchoalveolar lavations (BALs). The pathogenesis of PAP in LPI is still largely unclear.

Kidney involvement in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in a Finnish cohort.

Background: Autoimmune tubulo-interstitial nephritis (TIN) is a rare complication of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Previous data on TIN and other renal or urologic manifestations of APECED are sparse.

Methods: We performed a retrospective study on the urinary and renal tract diseases in a cohort of 30 Finnish patients with APECED (mean age 40 years), with special emphasis on the clinical presentation and the immunologic characteristics of TIN.

TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.

Acral peeling skin syndrome (APSS) is an autosomal recessive skin disorder characterized by acral blistering and peeling of the outermost layers of the epidermis. It is caused by mutations in the gene for transglutaminase 5, TGM5. Here, we report on clinical and molecular findings in 11 patients and extend the TGM5 mutation database by four, to our knowledge, previously unreported mutations: p.

Validation of the Western Ontario Meniscal Evaluation Tool (WOMET) for patients with a degenerative meniscal tear: a meniscal pathology-specific quality-of-life index.

Background: Arthroscopic partial meniscectomy is the most common orthopaedic procedure and is often carried out to treat a degenerative meniscal lesion. The purpose of the present study was to determine the psychometric properties of the Western Ontario Meniscal Evaluation Tool (WOMET) for patients with an arthroscopically verified degenerative meniscal tear.

Methods: Four hundred and eighty-five patients with an arthroscopically verified degenerative meniscal tear were included.

Fetal hyperglycemia alters lung structural development in neonatal rat.

Maternal diabetes is associated with increased risk for abnormal fetal organogenesis, but its effects on the developing lungs are still insufficiently known. To determine the effect of maternal hyperglycemia on postnatal lung development, we studied lung structural and cellular changes in newborn rats exposed to intrauterine hyperglycemia. We induced hyperglycemia in Sprague-Dawley rats with i.

Cutaneous lupus erythematosus after treatment with paclitaxel and bevacizumab for metastatic breast cancer: a case report.

Introduction: The monoclonal anti-vascular endothelial growth factor antibody bevacizumab is increasingly used in the treatment of several malignant tumors. The usual side effects of this drug are hypertension and proteinuria. Paclitaxel is widely used in the treatment of breast cancer and head and neck carcinomas.

Oral soft tissue alterations in patients with neurofibromatosis.

Our aim was to characterize the type and frequency of oral soft tissue alterations in neurofibromatosis. A total of 103 patients with neurofibromatosis 1 (NF1) and three patients with neurofibromatosis 2 (NF2) were clinically evaluated for their oral soft tissue alterations. Disturbing growths were removed from nine patients with NF1 and from one patient with NF2.

Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.

Desmoplakin (DP) anchors the intermediate filament cytoskeleton to the desmosomal cadherins and thereby confers structural stability to tissues. In this study, we present a patient with extensive mucocutaneous blisters, epidermolytic palmoplantar keratoderma, nail dystrophy, enamel dysplasia, and sparse woolly hair. The patient died at the age of 14 years from undiagnosed cardiomyopathy.

["Tennis leg"--calf muscle rupture of the middle-aged tennis aficionado].

During tennis, the patient heard a bang from his left calf. The inferior edge of the calf muscle at the musculotendinous junction of the medial branch of m. gastrocnemius was tender to pressure, indicating a rupture called as "tennis leg".

Reconstruction of critical size calvarial bone defects in rabbits with glass-fiber-reinforced composite with bioactive glass granule coating.

Unlabelled: The aim of this study was to evaluate glass-fiber-reinforced composite as a bone reconstruction material in the critical size defects in rabbit calvarial bones. The bone defect healing process and inflammatory reactions were evaluated histologically at 4 and 12 weeks postoperatively. Possible neuropathological effects on brain tissue were evaluated.

Pancreatic phospholipase A2 contributes to lung injury in experimental meconium aspiration.

To investigate the role of pancreatic (group I) secretory PLA2 (sPLA2-I) in the pathogenesis of meconium aspiration syndrome, human particulate meconium or its supernatant either before or after extraction of PLA2-I was insufflated into rat lungs. In addition, the pulmonary effects of intra-tracheal human and bovine PLA2-I were studied. Lungs with saline instillation served as controls.

Inhibition of COX-2 aggravates neutrophil migration and pneumocyte apoptosis in surfactant-depleted rat lungs.

Pulmonary inflammation and parenchymal apoptosis are implicated in the pathogenesis of the acute lung injury, but the mechanisms of these reactions are still unclear. Because inhibition of the proinflammatory cyclo-oxygenase (COX)-2 enzyme action is proposed to be useful in various inflammatory lung injuries, we decided to investigate the expression of COX-2 and the possible beneficial effects of its inhibition on pulmonary inflammation and apoptosis in surfactant-depleted lungs. The injury was induced in 2-mo-old rats by repeated lung lavage to remove alveolar surfactant.

Tight junction proteins and perineurial cells in neurofibromas.

Cutaneous neurofibromas consist of axonal processes, Schwann cells, fibroblasts, perineurial cells, mast cells, and abundant extracellular matrix. The distribution and role of perineurial cells in neurofibromas has been uncertain, partly because there has not been a specific immunohistochemical marker for perineurial cells. In this study, tight junctions (TJs) of 16 neurofibromas from 12 patients with neurofibromatosis type 1 (NF1) were analyzed using electron microscopy, immunohistochemistry, and Western transfer analysis.

Bactericidal/permeability-increasing protein in lacrimal gland and in tears of healthy subjects.

Background: To determine the expression of bactericidal/permeability-increasing protein (BPI), a novel antimicrobial molecule, in the main lacrimal gland and its content in tears of young healthy subjects.

Methods: BPI concentration of tears was measured in 42 healthy volunteers, 13 men and 29 women, with ages ranging from 22 to 30 (mean 24.7+/-2.

Angiotensin II receptor inhibition prevents pneumocyte apoptosis in surfactant-depleted rat lungs.

Pneumocyte apoptosis is implicated in the pathophysiology of acute inflammatory lung injuries in newborns and adults. Pulmonary angiotensin (ANG) II contributes to lung epithelial apoptosis in vitro, but its role in acute lung injury in vivo is unclear. We therefore studied the effects of ANG II receptor action on the pulmonary inflammatory and apoptotic changes in surfactant-depleted lungs in rats.

Reduced-intensity conditioning and blood stem cell transplantation from an HLA-identical sibling for severe aplastic anaemia: two patients with successful engraftment but a fatal post-transplant lymphoproliferative disorder in the other.

Allogeneic stem cell transplantation with reduced-intensity conditioning (RIC) can be offered to patients who are ineligible for high-dose conditioning because of their age or comorbidities. Malignant haematological diseases have so far been the most common indication of this new treatment modality; it has been less often used for nonmalignant diseases, and there are only a few reports of RIC and allotransplantation to treat acquired severe aplastic anaemia (SAA). We report two elderly patients (62 and 65 years of age) with SAA who underwent RIC (fludarabine + cyclophosphamide + ATG) and HLA-identical sibling allogeneic blood stem cell transplantation.

Angiotensin II receptor blockade inhibits pneumocyte apoptosis in experimental meconium aspiration.

Lung tissue inflammation and apoptosis are implicated in the pathogenesis of meconium aspiration-induced lung injury in the newborn, but the mechanisms of these reactions are still poorly known. We investigated the time-dependent leukocyte influx and appearance of apoptosis, as well as the contribution of angiotensin (ANG) II receptor action on these processes in the meconium-induced lung injury. Experimental meconium aspiration was induced by intratracheal instillation of human meconium in 18 rats, and eight rats were further pretreated with an unspecific ANG II receptor inhibitor saralasin.

Meconium induces only localized inflammatory lung injury in piglets.

Neonatal meconium aspiration often produces severe respiratory distress due to an inflammatory pulmonary injury, but the extension of this damaging reaction to the noncontaminated lung regions is still uncertain. To investigate the presence of generalized pulmonary inflammatory response, 31 anesthetized and ventilated neonatal piglets (1-3 d) were studied. Meconium (n = 16) or saline (n = 15) was instilled unilaterally into the right lung, and analysis of the lung tissue or bronchoalveolar lavage (BAL) fluid from both lungs was performed after 12 h.