RESUMEN
OBJECTIVE: For many physicians, palpable purpura is synonymous with vasculitis. However, a skin biopsy is almost always performed in common clinical practice in order to confirm the diagnosis. The aim of our study was to assess whether palpable purpura is always indicative of an inflammatory infiltrate in a vessel wall. PATIENTS AND METHODS: Eighty-seven patients were included in this prospective monocentric study, 45 of whom were presenting a palpable purpura. Patients were classified in two categories: "leukocytoclastic vasculitis" or "other diagnosis". The clinical and histopathological features of patients with a palpable purpura were studied. RESULTS: The mean age of patients presenting a palpable purpura was 69 years. There were 26 men and 19 women. Of the 43 patients biopsied, 37 were included in the vasculitis group. The sensitivity, specificity, positive predictive value and negative predictive value for a diagnosis of vasculitis in patients with palpable purpura were respectively 82, 65, 86 and 58 %. The Odds ratio was 8.48 (95 % CI, 2.52-31.80; P<0.05). CONCLUSION: Most of the palpable purpuras examined were indeed related to leukocytoclastic vasculitis. In the remaining cases, biopsy did not contribute to the diagnosis since it only showed purpura without vessel wall inflammation. In our opinion, a skin biopsy is thus not essential where the clinical presentation is typical.
Asunto(s)
Biopsia , Vasculitis por IgA/diagnóstico , Piel/patología , Vasculitis/diagnóstico , Anciano , Femenino , Humanos , Masculino , Valor Predictivo de las Pruebas , Estudios Prospectivos , Sensibilidad y EspecificidadRESUMEN
Phylogenetic relationships among and genetic variability within 60 goats from two different indigenous breeds in Narok and Isiolo counties in Kenya and 22 published goat samples were analysed using mitochondrial control region sequences. The results showed that there were 54 polymorphic sites in a 481-bp sequence and 29 haplotypes were determined. The mean haplotype diversity and nucleotide diversity were 0.981 ± 0.006 and 0.019 ± 0.001, respectively. The phylogenetic analysis in combination with goat haplogroup reference sequences from GenBank showed that all goat sequences were clustered into two haplogroups (A and G), of which haplogroup A was the commonest in the two populations. A very high percentage (99.90%) of the genetic variation was distributed within the regions, and a smaller percentage (0.10%) distributed among regions as revealed by the analysis of molecular variance (amova). This amova results showed that the divergence between regions was not statistically significant. We concluded that the high levels of intrapopulation diversity in Isiolo and Narok goats and the weak phylogeographic structuring suggested that there existed strong gene flow among goat populations probably caused by extensive transportation of goats in history.
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ADN Mitocondrial/genética , Cabras/clasificación , Cabras/genética , Animales , Genética de Población , Kenia , FilogeniaRESUMEN
BACKGROUND: McCune-Albright syndrome is a rare sporadic disease defined by the triad of café-au-lait spots, fibrous dysplasia of bone and endocrine disorder. Diagnosis is classically confirmed by the presence of bone lesions or precocious puberty. We report a case of McCune-Albright syndrome diagnosed solely on the basis of the cutaneous signs. PATIENTS AND METHODS: A four-year-old girl was seen in our clinic due to the presence of congenital café-au-lait spots on her back. These macules were irregular, with jagged borders, and were disposed in a broad band on the left shoulder and in the lumbar region, in a Blaschko-linear pattern. McCune-Albright syndrome was immediately suspected, despite the absence of other signs of the disease. Genetic assessment carried out a year and a half later confirmed the diagnosis, with arginine substitution at position 201 of Gs alpha protein. The child was still asymptomatic. Regular radiographic and endocrine assessments remained normal for three years until the sudden appearance at the age of seven years of precocious puberty and radiographic evidence of fibrous dysplasia of the right hand. DISCUSSION: Café-au-lait spots are very common in the general population. An underlying genetic disorder should only be sought when such spots are multiple. However, in the case of McCune-Albright syndrome, it is the irregular borders and the Blaschko-linear arrangement of the spots in broad irregular bands that are pathognomonic, reflecting as they do the genetic mosaicism characteristic of this disease.
Asunto(s)
Manchas Café con Leche/patología , Displasia Fibrosa Poliostótica/patología , Dorso , Manchas Café con Leche/congénito , Preescolar , Cromograninas/genética , Femenino , Displasia Fibrosa Ósea/diagnóstico , Displasia Fibrosa Poliostótica/genética , Subunidades alfa de la Proteína de Unión al GTP Gs/genética , Humanos , Mutación , Pubertad Precoz/etiologíaRESUMEN
Seventy-nine consecutive patent ductus arteriosus (PDA) ligations were performed in our newborn intensive care unit (NBICU) over a four-year period. Seven infants (9%) died within one month after surgery. The deaths were not attributed to the surgery but were associated with preexisting medical complications or new intracranial hemorrhages. Significant surgical morbidity was rare. We conclude that ligation of the PDA in the premature infant can be a safe and effective procedure, when pharmacologic closure is ineffective or contraindicated. Furthermore, PDA ligation may be safely performed in the NBICU.