Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis.

The RASGRP2 gene encodes the Ca and DAG-regulated guanine nucleotide exchange factor I (CalDAG-GEFI), which plays a key role in integrin activation in platelets and neutrophils. We here report two new RASGRP2 variants associated with platelet dysfunction and bleeding in patients. The homozygous patients had normal platelet and neutrophil counts and morphology.

Type I osteogenesis imperfecta and multiple osteochondromas in the same child.

A male infant showed a humeral diaphysis fracture at 5 months of age and a distal tibial physis fracture at 2 years of age. A specialized consultant ruled out child abuse. This child had the characteristic features of type I osteogenesis imperfecta: blue sclerae, osseous fragility, and presumably autosomal dominant inheritance, as his father suffered from similar disorders.

[Bronchiolitis obliterans organizing pneumonia--experience of a pulmonology ward].

Bronchiolitis obliterans organizing pneumonia (BOOP) is a physiopathologic syndrome associating suggestive clinical and imaging features with histopathologic studies showing buds of connective tissue in the lu- men of the distal pulmonary airspace. The aim of the study is a retrospective review of all patients with BOOP diagnosed in the Pulmonology Unit of Coimbra Hospital Centre (CHC) between 2000 and 2005. Eleven cases (6 female and 5 male) with mean age 54.

[Allergic inflammatory diseases of the upper airways and their impact on asthma--following on from a case report].

The authors present a case report of a patient referred to physician for "difficult-to-treat asthma". Clinical evaluation concluded that severe chronic inflammatory upper airway disease was an asthma worsening factor. Patient demonstrated improvement in asthma control, after surgery.

Neonatal Paratesticular Neuroblastoma Misdiagnosed as In Utero Torsion of Testis.

Reports of neuroectodermal primary scrotal tumors are scarce. Primary paratesticular neuroblastomas seem even rarer, and only five infants with this condition have been previously described. To the authors' knowledge, this would be the first report of a neonatal congenital paratesticular neuroblastoma.

Neonatal paratesticular neuroblastoma misdiagnosed as in utero torsion of testis.

Reports of neuroectodermal primary scrotal tumors are scarce. Primary paratesticular neuroblastomas seem even rarer, and only five infants with this condition have been previously described. To the authors' knowledge, this would be the first report of a neonatal congenital paratesticular neuroblastoma.