Several disorders characterized primarily by anomalies of the skeleton have recently been shown to be caused by mutations in the X-linked gene, FLNA. One of these conditions, the Melnick-Needles syndrome exhibits a phenotype that shares overlap with that of serpentine fibula-polycystic kidney syndrome and the autosomal dominant condition, Hajdu-Cheney syndrome. Here, we describe three individuals with these diagnoses. The individual with serpentine fibula-polycystic kidney syndrome, the fifth case reported in the literature, exhibited wormian bones which further expands the phenotypic spectrum for this condition and extends the overlap with Hajdu-Cheney syndrome. All three members of the filamin gene family, FLNA, and its functionally related paralogues, FLNB and FLNC, were screened for pathogenic mutations in all three individuals. We found a mutation in FLNA in the individual with Melnick-Needles syndrome, but no pathogenic variants in any filamin gene in the two individuals with Hajdu-Cheney syndrome and serpentine fibula-polycystic kidney syndrome. Clinical and molecular evidence indicates that Melnick-Needles syndrome is aetiologically distinct from Hajdu-Cheney syndrome and serpentine fibula-polycystic kidney syndrome, but these two latter conditions share many clinical similarities and may prove to be allelic to one another.

ObjectiveTo evaluate the incidence and spectrum of abdominal computed tomography imaging findings in patients with paracoccidioidomycosis.Materials and MethodsRetrospective analysis of abdominal computed tomography images of 26 patients with disseminated paracoccidioidomycosis.ResultsAbnormal abdominal tomographic findings were observed in 18 patients (69.2%), while no significant finding was observed in the other 8 (30.8%) patients.ConclusionComputed tomography has demonstrated to play a relevant role in the screening and detection of abdominal abnormalities in patients with disseminated paracoccidioidomycosis.

Melnick-Needles syndrome is an X-linked dominant bone dysplasia, lethal in males, characterized by a typical facies and characteristic radiological findings: including sclerosis of skull base and mastoids, S-shaped appearance of tibia; cortical irregularities with a ribbon appearance of the ribs. About 48 well-documented cases have been reported, most of them were sporadic. Parental transmission has been published in only 11 kindreds. We are presenting the first Brazilian family with mother-daughter transmission.The proposita presented the typical clinical and radiological features with characteristic facies, severe thoracic cage restriction and pulmonary hypertension. Her mother was more mildly affected.

Os autores apresentam um caso de displasia renal associada a ectopia ureteral vaginal homolateral, com uretero-hidronefrose contralateral devida a compressão por hidrocolpo causado pela ectopia e por um septo vaginal oblíquo. Os exames de imagem utilizados foram urografia excretora, cistografia, ultra-sonografia, tomografia computadorizada e cintilografia renal com Tc-99m-DMSA. Foi realizada revisão da literatura sobre casos de hidrocolpo associado a malformações urinárias.

Objective: The present study is aimed at describing computed tomography findings pulmonary tuberculosis in adult AIDS patients assisted at a radiology unit of a reference infectious diseases hospital, in an attempt to establish the association between such findings and CD4 count. Materials and Methods: Forty-five patients were evaluated by chest computed tomography over a four-year period. Results: Mediastinal and/or hilar lymph node enlargement was found in 31 (68.8%) cases, pleural effusion in 29 (64.4%), centrilobular nodules with segmental distribution in 26 (57.7%), consolidation in 24 (53.3%), confluent micronodules in 17 (37.7%), poorly defined nodules with centrilobular distribution in 16 (35.5%), tree-in-bud pattern in 13 (28.9%), bronchial wall thickening in 12 (26.6%), thick-walled cavity in 10 (22.2%), miliary nodules in 9 (20%), and cylindrical bronchiectasis in 6 (13.3%). Among the 45 patients, 35 (77.8%) presented CD4 count < 200 cel/mm 3 and 10 (22.2%) presented CD4 count ≥ 200 cel/mm 3 . Conclusion: Differently from reports in the literature, the authors conclude that mediastinal and/or hilar lymph node enlargement and consolidation were significantly most frequent in patients with CD4 count ≥ 200 cel/mm 3 . However, lymph nodes with hypodense center were most often observed in severely immunosuppressed patients with CD4 count < 200 cel/mm 3 . Keywords: Tuberculosis; Tomography; Chest; HIV; AIDS; SIDA.Objetivo: Este trabalho tem como finalidade descrever os achados tomográficos da tuberculose pulmonar em pacientes adultos com AIDS atendidos no serviço de radiologia de um hospital de referência em doenças infecciosas, procurar associações desses achados e a contagem de CD4. Materiais e Métodos: Foram estudados 45 pacientes por meio de tomografia computadorizada de tórax durante quatro anos. Resultados: Foram encontrados linfonodomegalia mediastinal e/ou hilar em 31 (68,8%) dos casos, derrame pleural em 29 (64,4%), nódulos centrolobulares de distribuição segmentar em 26 (57,7%), consolidação em 24 (53,3%), confluência de micronódulos em 17 (37,7%), nódulos mal definidos com distribuição centrolobular em 16 (35,5%), padrão de "árvore em brotamento" em 13 (28,9%), espessamento de parede brônquica em 12 (26,6%), cavidade de parede espessa em 10 (22,2%), nódulos miliares em 9 (20%) e bronquiectasias cilíndricas em 6 (13,3%). Dos 45 pacientes, 35 (77,8%) apresentaram CD4 < 200 cel/mm 3 e 10 (22,2%) apresentaram CD4 ≥ 200 cel/mm 3 . Conclusão: Concluímos que neste estudo, diversamente do descrito na literatura, linfonodomegalia mediastinal e/ou hilar e consolidação foram significativamente mais frequentes em pacientes com CD4 ≥ 200 cel/mm 3 . No entanto, linfonodos com centro hipodenso foram mais frequentemente observados em pacientes com severa imunodepressão, ou seja, CD4 < 200 cel/mm 3 . Unitermos: Tuberculose; Tomografia; Tórax; HIV; AIDS; SIDA. AbstractResumo