Translation to Portuguese and Validation of the Douleur Neuropathique 4 Questionnaire

The Douleur Neuropathique 4 (DN4) questionnaire was developed by the French Neuropathic Pain Group and is a simple and objective tool, with the ability to distinguish nociceptive from neuropathic pain. The purpose of this work was to validate the DN4 questionnaire in the Portuguese language in order to allow its use in clinical and research settings. A double-blind, accuracy study was conducted, consisting of translation, back-translation, literal evaluation, semantic equivalence, and communication with the target population. The Portuguese version of the questionnaire was applied in a sample of 101 patients with neuropathic (N = 42) or nociceptive pain (N = 59), ranked according to medical diagnosis. The reproducibility, reliability and validity of the instrument were analyzed, and showed a high diagnostic power for this version of the DN4 questionnaire. The Portuguese version of the DN4 questionnaire presented good validity and reliability, allowing it to identify neuropathic pain and neuropathic characteristics of mixed pain syndromes. Perspective: This article presents the first validated neuropathic pain questionnaire in the Portuguese language and represents a useful tool in the assessment of neuropathic pain both in the clinical setting and in population-based studies. The sensible and quick format of this instrument are key factors that will contribute to its widespread use, permitting a true recognition of patients with neuropathic pain. (C) 2010 by the American Pain Society

Cross-cultural adaptation and validation of a Quality of Life questionnaire: The Nasal Obstruction Symptom Evaluation questionnaire

Background:The Nasal Obstruction Symptom Evaluation (NOSE) instrument is a disease-specific questionnaire for assessing the outcome of an intervention in nasal obstruction in trials. This instrument is only available in the English language and cross-culturally valid questionnaires are very important for all research, including nasal obstruction. The aim of the current study was to reproduce the cross-cultural adaptation process for the NOSE questionnaire in the Portuguese language (NOSE-p). Methodology: Cross-cultural adaptation and validation of the instrument were divided into two stages. Stage I involved four bilingual professionals, an expert committee and the author of the original instrument. In Stage 2, the NOSE-p was tested on 33 patients undergoing septoplasty for internal consistency, test-retest reliability, construct validity. discriminant validity, criterion validity, and response sensitivity. Results: The cross-cultural adaptation process was completed and the NOSE-p was demonstrated to be a valid instrument with satisfactory construct validity. It showed an adequate internal consistency reliability and adequate test-retest reliability. It could discriminate between patients with and without nasal obstruction and it has a high response sensitivity to change. Conclusions: The cross-cultural adaptation and validation process demonstrated to be valid and the NOSE-p proved to be applicable in Brazil.

IRF8 Mutations and Human Dendritic-Cell Immunodeficiency

BACKGROUND The genetic analysis of human primary immunodeficiencies has defined the contribution of specific cell populations and molecular pathways in the host defense against infection. Disseminated infection caused by bacille Calmette-Guerin (BCG) vaccines is an early manifestation of primary immunodeficiencies, such as severe combined immunodeficiency. In many affected persons, the cause of disseminated BCG disease is unexplained. METHODS We evaluated an infant presenting with features of severe immunodeficiency, including early-onset disseminated BCG disease, who required hematopoietic stem-cell transplantation. We also studied two otherwise healthy subjects with a history of disseminated but curable BCG disease in childhood. We characterized the monocyte and dendritic-cell compartments in these three subjects and sequenced candidate genes in which mutations could plausibly confer susceptibility to BCG disease. RESULTS We detected two distinct disease-causing mutations affecting interferon regulatory factor 8 (IRF8). Both K108E and T80A mutations impair IRF8 transcriptional activity by disrupting the interaction between IRF8 and DNA. The K108E variant was associated with an autosomal recessive severe immunodeficiency with a complete lack of circulating monocytes and dendritic cells. The T80A variant was associated with an autosomal dominant, milder immunodeficiency and a selective depletion of CD11c+CD1c+ circulating dendritic cells. CONCLUSIONS These findings define a class of human primary immunodeficiencies that affect the differentiation of mononuclear phagocytes. They also show that human IRF8 is critical for the development of monocytes and dendritic cells and for antimycobacterial immunity. (Funded by the Medical Research Council and others.)

Birth Prevalence and Natural History of Congenital Cytomegalovirus Infection in a Highly Seroimmune Population

Background. The natural history of congenital cytomegalovirus (CMV) infection is scarcely known in populations with high maternal CMV seroprevalence. This study evaluated the birth prevalence, clinical findings at birth, and hearing outcome in CMV-infected children from such a population. Methods. Consecutively born infants were screened for the presence of CMV in urine and/or saliva specimens during the first 2 weeks after birth. Neonatal clinical findings were recorded, and CMV-infected children were tested to document hearing function during follow-up. A subset of mothers of CMV-infected infants were prenatally tested for the presence of anti-CMV immunoglobulin G antibodies. Results. Congenital CMV infection was confirmed in 87 (1.08%; 95% confidence interval [CI], 0.86%-1.33%) of 8047 infants. Seven infants (8.1%; 95% CI, 3.3%-15.9%) had at least 1 clinical finding suggestive of CMV infection, and 4 (4.6%; 95% CI, 1.3%-11.3%) had 13 findings of systemic disease. Sensorineural hearing loss was found in 5 (8.6%; 95% CI, 2.9%-19.0%) of 58 children tested at a median age of 21 months. Bilateral profound hearing loss was observed in 2 children, and the hearing threshold was 160 decibels in all 5 children with hearing loss, including 2 children born to mothers with probable nonprimary CMV infection. Conclusions. The results of this large newborn screening study in a population with high CMV seroimmunity provide additional evidence that congenital CMV disease occurs in populations with high seroprevalence rates, with a similar incidence of CMV-related hearing loss to that reported in the offspring of women from populations in developed countries with lower rates of seroimmunity to CMV.

Delayed orbital hemorrhage after routine strabismus surgery

PURPOSE: To report a case of delayed rectus muscle hemorrhage after strabismus surgery. METHODS: Case report. RESULTS: Rectus muscle hemorrhage occurred 36 hours after strabismus surgery in a 26-year-old man, causing temporary loss of vision and reduced ocular motility. Urgent lateral cantholysis and orbital exploration to restore hemostasis were undertaken. Full recovery of vision occurred and a small residual motility disturbance was present 3 months postoperatively. CONCLUSION: Delayed rectus muscle hemorrhage post-strabismus surgery is rare but can have sight-threatening effects. When vision is threatened because of optic nerve compromise, urgent orbital exploration may allow full recovery of function. (Am J Ophthalmol 2001;131: 818-819, (C) 2001 by Elsevier Science Inc. All rights reserved.).