Sporadic case of X-chromosomal Alport syndrome in a consanguineous family

Alport syndrome (AS) is a genetic disorder of basement membranes caused by mutations in type IV collagen genes that is characterized by chronic hematuria and progressive nephropathy leading to renal failure. The main extrarenal features include sensorineural hearing loss and ocular lesions. The mode of inheritance is X-linked dominant in about 80%–85% of the affected families, whereas autosomal transmission is rarely encountered. We report a male patient originating from a healthy consanguineous Lebanese family who presented with an unusual association of obstructive uropathy and AS. Hematuria and proteinuria were initially attributed to a suspected poststreptococcal glomerulonephritis (GN) and high-grade subpelvic ureteral stenosis. Persistence of symptoms after medical treatment of poststreptococcal GN and surgical correction of obstructive uropathy finally led to renal biopsy. The observed ultrastructural changes of the glomerular basement membrane were typical for AS.Molecular genetic studies revealed a previously undescribed de novo mutation in the COL4A5 gene, excluding maternal heterozygotic carrier status. This case report emphasizes the importance of hereditary nephritis in the differential diagnosis of chronic hematuria, and demonstrates the value of molecular studies for genetic counselling in AS. Received: 9 October 1998 / Revised: 15 February 1999 / Accepted: 24 August 1999     

Comparison of sucking patterns at introduction of oral feeding and at term in Israeli and American preterm infants

BACKGROUND: It has been hypothesized that early initiation of oral feeding in premature infants may enhance the maturation of sucking patterns. AIM: To compare preterm infant sucking characteristics in urban level III neonatal care units in the USA and Israel. The two hospitals have different practices regarding the introduction of oral feeding. METHODS: Infants were assessed at 34-35 wk postconceptional age (PCA) and at term. Sucking parameters were assessed with the Kron's Nutritive Sucking Apparatus. RESULTS: 70 infants (38 Americans and 32 Israelis) participated in the study. Oral feedings were initiated earlier (32.6 +/- 4.3 vs 34.5 +/- 1.8 wk PCA, p < 0.01) and full oral feedings were reached earlier (35.4 +/- 2.8 vs 36.5 +/- 2.5 wk PCA, p < 0.05) in the USA infants. American preterm infants produced significantly more sucks (p < 0.001), had a higher suck rate (p < 0.001), more sucks per burst (p < 0.05), and a shorter interburst width (p < 0.01) at 34 wk PCA than Israeli infants. At term, American infants produced significant more sucks (p < 0.001), higher suck rate (p < 0.001), shorter intersuck width (p < 0.001), and a shorter interburst width (p < 0.05) than the Israeli infants of the same PCA. CONCLUSION: Different practices in the care of preterm infants, such as postconceptional age at introduction of oral feeding, may play a role in the development of feeding and feeding organization at term.     

Delayed diagnosis of tracheoesophageal prosthesis aspiration

In 1980, Singer and Blom published the results of their study on use of the tracheoesophageal puncture prosthesis for restoration of voice after total laryngectomy. Since then, the placement of tracheoesophageal puncture prostheses has been an integral part of rehabilitation after laryngectomy. Complications of this procedure have been recognized and are usually minimal. Inadvertent aspiration of the prosthesis is rare. Usually, patients seek help immediately after the incident. We report a case of unnoticed aspiration of a Blom-Singer prosthesis in a patient with a laryngectomy.     

Virtual colon dissection with CT colonography compared with axial interpretation and conventional colonoscopy: preliminary results

OBJECTIVE: The aim of this study was to determine whether a new virtual colon dissection 3D visualization technique for CT colonography has a shorter analysis time and better sensitivity for detection of colonic polyps than interpretation of axial CT images. SUBJECTS AND METHODS. CT colonography was performed in 22 patients using 4-MDCT followed by conventional colonoscopy on the same day. The CT colonography data sets were analyzed by virtual colon dissection, which virtually bisects and unfolds the colon along its longitudinal axis to inspect the inner colonic surface for polyps. The same CT data sets were independently evaluated using axial interpretation. All data sets were independently interpreted by two radiologists in a blinded manner. RESULTS: Conventional colonoscopy revealed 31 colonic lesions in 20 patients. Twenty two of the lesions were smaller than 10 mm; nine were 10 mm or larger. Two of the original 22 patients were excluded, one because of residual stool and fluid and the other because of an impassable stenosing rectal wall cancer. For virtual colon dissection, the per-lesion sensitivity was 42% for observer 1 and 68% for observer 2; for axial interpretation, the respective sensitivities were 48% and 61%. For polyps 10 mm or larger, the respective sensitivities were 67% and 89% for virtual colon dissection and 89% and 100% for axial interpretation. The average time for reconstruction and analysis of virtual colon dissection was 36.8 min versus 29.2 min for axial images. Virtual colon dissection was feasible in both the supine and the prone positions in 45.5% of colonic segments, in either the supine or the prone position in 24.5%, and in neither position in 30% of segments. CONCLUSION: Although virtual colon dissection may facilitate detection of colonic polyps in isolated cases, its detection rate is not superior to axial interpretation, which is mainly attributable to failed rendering of insufficiently distended colonic segments or regions with residual feces. Virtual colon dissection is also the more time-consuming of the two procedures. With further improvement of path-finding and image segmentation, however, virtual colon dissection has the potential to be a useful interpretation tool for CT colonography.