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Purpose: Knobloch syndrome is a rare, recessively inherited disorder classically characterized by high myopia, retinal detachment, and occipital encephalocele. Our aim is to report the clinical and genetic findings of four Israeli children affected by Knobloch syndrome. Methods: Retrospective study of four patients diagnosed with Knobloch syndrome, who underwent full ophthalmic examination, electroretinography, and neuroradiologic imaging. Genetic analysis included whole exome sequencing (WES) and Sanger sequencing. Results: The four patients included in this study had high myopia and nystagmus at presentation. Ocular findings included vitreous syneresis, macular atrophy, macular coloboma, and retinal detachment. One child had iris transillumination defects and an albinotic fundus, initially leading to an erroneous clinical diagnosis of albinism. Electroretinography revealed a marked cone-rod pattern of dysfunction in all four children. Brain imaging demonstrated none to severe occipital pathology. Cutaneous scalp changes were present in three patients. WES analysis, confirmed by Sanger sequencing revealed COL18A1 biallelic null mutations in all affected individuals, consistent with autosomal recessive inheritance. Conclusions: This report describes variable features in patients with Knobloch syndrome, including marked lack of eye pigment similar to albinism in one child, macular coloboma in two children as well as advanced cone-rod dysfunction in all children. One patient had normal neuroradiologic findings, emphasizing that some affected individuals have isolated ocular disease. Awareness of this syndrome, with its variable phenotype may aid early diagnosis, monitoring for potential complications, and providing appropriate genetic counseling.

Knobloch syndrome is a rare, recessively inherited disorder classically characterized by high myopia, retinal detachment, and occipital encephalocele. Our aim is to report the clinical and genetic findings of four Israeli children affected by Knobloch syndrome.Retrospective study of four patients diagnosed with Knobloch syndrome, who underwent full ophthalmic examination, electroretinography, and neuroradiologic imaging. Genetic analysis included whole exome sequencing (WES) and Sanger sequencing.The four patients included in this study had high myopia and nystagmus at presentation. Ocular findings included vitreous syneresis, macular atrophy, macular coloboma, and retinal detachment. One child had iris transillumination defects and an albinotic fundus, initially leading to an erroneous clinical diagnosis of albinism. Electroretinography revealed a marked cone-rod pattern of dysfunction in all four children. Brain imaging demonstrated none to severe occipital pathology. Cutaneous scalp changes were present in three patients. WES analysis, confirmed by Sanger sequencing revealedThis report describes variable features in patients with Knobloch syndrome, including marked lack of eye pigment similar to albinism in one child, macular coloboma in two children as well as advanced cone-rod dysfunction in all children. One patient had normal neuroradiologic findings, emphasizing that some affected individuals have isolated ocular disease. Awareness of this syndrome, with its variable phenotype may aid early diagnosis, monitoring for potential complications, and providing appropriate genetic counseling.

PURPOSE The purpose of this study was to compare the measurements of the aortic root obtained from electrocardiographically (ECG)-gated computed tomography (CT) angiography (CTA) to the measurements obtained from transthoracic echocardiography (TTE). MATERIALS AND METHODS This was a retrospective study in a patient population scanned at our institution between December 2005 and January 2007 with retrospectively ECG-gated CTA. ECG-gated CTA was performed with a 64-section helical CT scanner (Light speed, VCT, GE, Milwaukee, WI). Sixty-eight patients; 51 men and 17 women were included in this study. Aortic root diameters were measured by using double oblique reconstruction from axial source images. The TTE measurements of the aortic root were obtained from the reports that were performed within 2 months of CTA. RESULTS The average aortic root diameter measured by TTE was 33+/-4.1 mm; on CTA it was 36.9+/-3.8 mm. The median difference between the 2 measurements was 3.9 mm which was significant (P

E. Kanal is a consultant for, is a member of the speakers bureau of, and provides research support for Bracco Diagnostics and GE Healthcare; is a member of the speakers bureau of and provides research support for Siemens Medical Solutions; and provides research support for Berlex and Medtronic. T. Gilk is a consultant for Mednovus, Inc. J. R. Gimbel provides research support for St. Jude Medical, Medtronic, and Biotronik. J. Nyenhuis is a consultant for and provides research support to Medtronics. J. Weinreb is a consultant and member of the speakers bureau for GE Healthcare.

To keep up with advances in central nervous system (CNS) tumor diagnosis and discovery of new entities, the classification of these tumors requires periodic review and revision. Since the initial 1979 publication from the World Health Organization (WHO) of Histological Typing of Tumours of the Central Nervous System, 3 further editions have been published, cataloging the advances in CNS tumor classification and diagnosis over the past 3 decades. In this article, we discuss select new additions to the current classification, including new diagnostic tools, differential diagnoses, and management implications.

We investigated physician rationale for and against performing routine erythrocyte sedimentation rate (ESR) tests during hospital admissions.A comparative, descriptive, prospective study among 82 physicians in 15 departments of internal medicine from two University Medical Centers - A and B - in Israel was conducted between July and August 2004. Reasons for physicians' use of ESR were examined using a confidential questionnaire. A panel of four experts reviewed the need to perform an ESR test in 100 patients' files from center B. The main outcome measures were the use of ESR in routine hospital admissions and reasons for use.Forty-four vs. zero physicians from medical centers B and A, respectively, routinely perform ESR tests for all admitted patients (p0.001). According to the experts, in only 10-30% of the 67 new patients could ESR tests have been of some value. Reasons for performing ESR routinely were as follows: to identify severe and "hidden" diseases (21/44, 47.7%); because it is crucial for all patients, both new and returning (10/44, 22.7%); because it is a guideline from department head (6/44, 13.6%); it is recommended in the literature (5/44, 11.4%); don't know why (2/44, 4.5%); defensive medicine (1/44, 2.3%); and other (6/44, 13.6%).Routine use of ESR tests on admission can be explained by old habits and by an unconscious concern about liability, i.e., unconscious defensive medicine.

To assess diagnostic accuracy of combined positron emission tomography (PET) and computed tomography (CT) in detection of pelvic recurrence in patients with rectal cancer who underwent abdominoperineal or anterior resection.Sixty-two patients were enrolled; 37 were men, and 25 were women. Seventeen patients underwent abdominoperineal resection and 45 underwent anterior resection with an anastomosis in the pelvic region before referral for PET/CT. Pelvic sites of fluorine 18 ((18)F) fluorodeoxyglucose (FDG) uptake were rated separately on PET and PET/CT images as benign or malignant on the basis of shape, location, and intensity of (18)F FDG uptake (1-2 = benign and/or physiologic, 3 = equivocal, 4-5 = malignant). Two readers interpreted images in consensus. Altered pelvic anatomy and presence of presacral abnormalities were assessed with CT. Pelvic recurrence was confirmed with histologic analysis or clinical and imaging follow-up. Sensitivity, specificity, positive and negative predictive values, and accuracy of PET and PET/CT in the detection of pelvic recurrence were compared with lesion- and patient-based analyses by using the chi(2) test. Clinical relevance of PET/CT assessment was determined.Of 81 pelvic sites with increased (18)F FDG uptake, 44 were malignant. Sensitivity, specificity, positive predictive value, negative predictive value, and accuracy for differentiating malignant from benign (18)F FDG uptake in the pelvis were 98%, 96%, 90%, 97%, and 93% for PET/CT and 82%, 65%, 73%, 75%, and 74% for PET, respectively. The most common cause for false-positive interpretation of PET findings was physiologic (18)F FDG uptake in displaced pelvic organs. Presacral CT abnormalities were present in 30 (48%) of 62 patients, and seven (23%) abnormalities were malignant. PET/CT was used to distinguish benign and malignant presacral abnormalities with a sensitivity, specificity, positive predictive value, and negative predictive value of 100%, 96%, 88%, and 100%, respectively. PET/CT findings were clinically relevant in 29 (47%) of 62 patients.PET/CT is an accurate technique in the detection of pelvic recurrence after surgical removal of rectal cancer.