Hypertrichosis lanuginosa in a mother and son

Hypertrichosis lanuginosa (without gingival hyperplasia) is described in a mother and son; the latter also had photophobia, infantile genitalia, growth retardation, hypotension, low IQ and dental abnormalities (hyperdontia, permanence of deciduous and delayed eruption of permanent teeth). Both have normal dermatoglyphics. Some clinical findings are discussed. The presence of this syndrome in a mother and son supports an autosomal mode of inheritance (with variable expressivity). Hypertrichosis lanuginosa is a pure monomultidysplasia and may be classified with the tricho-odontic sub-group of the ectodermal dysplasias.     

Lymph node infarction – a rare complication associated with disseminated intra vascular coagulation in a case of dengue fever

Background  

Lymph node infarction is known to occur in association with many non-neoplastic and neoplastic conditions however its occurrence in association with DIC is not reported hitherto in the literature.     

The role of associated injuries on outcome of blunt trauma patients sustaining pelvic fractures

In order to identify the prognostic factors and to evaluate the impact of associated injuries in the outcome of patients with pelvic fractures, a retrospective review of the medical records of patients admitted with a pelvic fracture during a 42-month period was carried out. Demographic data, the mechanism of injury, the physiologic status on admission, associated injuries, pelvic fracture classification, complications and mortality were analysed. One hundred and three patients were included in the study. Fifty-nine were male, and the mean age was 34. The mean Revised Trauma Score (RTS) and Injury Severity Score (ISS) were 7.1 and 20, respectively. Pedestrian vs vehicle (59%), was the most frequent mechanism of injury. Twenty patients died (19%) most frequently due to "shock". Complications developed in 37 patients (36%), pneumonia being the most frequent. Age greater than 40 years (p=0.02), "shock" upon admission (p=0.002), a Glasgow Coma Scale (GCS)<9, Head AIS>2 (p<0. 001), Chest AIS>2 (p=0.007), and abdominal AIS>2 (p=0.03) all correlated with increased mortality. No correlation between pelvic fracture classification or fracture stability with mortality was observed. The outcome of patients with pelvic fractures due to blunt trauma correlates with the severity of associated injuries and physiological derangement on admission rather than with characteristics of or the type of fracture.     

Headache Gauge: a real-life calendar-based tool for headache monitoring

Neurological Sciences - This study aimed to validate a semi-quantitative composite score tool, “Headache Gauge” (HG), to monitor the treatment effect in primary headaches in everyday...     

Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients

The molecular characterization of the mutations in hemophilia A patients is hampered by the large size of the factor VIII gene and the great heterogeneity of mutations. In this study, we have performed a protocol involving multiplex polymerase chain reaction in which 19 exons were amplified in four different combinations followed by nonradioactive single-strand conformational polymorphism (SSCP) to screen for mutations. Southern blotting was used to detect inversion of the factor VIII gene resulting from recombination between copies of the gene A (F8A) located in intron 22 of the factor VIII gene and two copies close telomeric region of X chromosome. Forty-two hemophilia A patients (21 with severe and 21 with mild-to-moderate disease) were studied. The inversion of factor VIII occurred in 13 of 21 patients affected by severe hemophilia A. One patient showed a large extra band in addition to the three bands observed after Southern blotting with the F8A probe. An abnormal electrophoretic pattern of SSCP was detected in 85% and 50% of the patients affected by mild-to-moderate and severe disease, respectively. Sixteen different mutations were identified. Eleven mutations were novel and comprised 9 point mutations and 2 small deletions. This study shows that the methodology used is safe and rapid and has potential for detecting almost all of the genetic defects of the studied hemophilia A patients.