Disentangling the heterogeneity of autism spectrum disorder through genetic findings

Autism spectrum disorder (ASD) represents a heterogeneous group of disorders, which presents a substantial challenge to diagnosis and treatment. Over the past decade, considerable progress has been made in the identification of genetic risk factors for ASD that define specific mechanisms and pathways underlying the associated behavioural deficits. In this Review, we discuss how some of the latest advances in the genetics of ASD have facilitated parsing of the phenotypic heterogeneity of this disorder. We argue that only through such advances will we begin to define endophenotypes that can benefit from targeted, hypothesis-driven treatments. We review the latest technologies used to identify and characterize the genetics underlying ASD and then consider three themes—single-gene disorders, the gender bias in ASD, and the genetics of neurological comorbidities—that highlight ways in which we can use genetics to define the many phenotypes within the autism spectrum. We also present current clinical guidelines for genetic testing in ASD and their implications for prognosis and treatment

Diffusion-weighted MR Imaging in the evaluation of normal appearing white matter in patients with tuberous sclerosis

The aim of the present study was to assess the presence of changes in diffusivity in the brains of patients with tuberous sclerosis (TS) in areas free from signal alterations on conventional MR sequences. Ten patients and controls were evaluated. ROI were placed on ADC maps in the white matter (frontal, parietal and centrum semiovale) excluding areas with signal alterations on FLAIR images. ADC values of supratentorial white matter turned out to be higher than controls (P < .0001). Our data indicate that TS is more widely diffused than expected in the brains of affected patients

Giant high-flow renal arteriovenous fistula treated by percutaneous embolization

We report the case of a giant renal arteriovenous fistula after renal biopsy in a 30-year-old man with hematuria and hypertension. We performed percutaneous endovascular embolization using macrocoils to exclude the fistula. The patient made an uneventful recovery with no further hematuria and progressive reduction of blood pressure. Follow-up by digital subtraction angiography (DSA) at 6 months showed complete occlusion of the fistula with no evidence of renal parenchymal infarction. Although giant renal arteriovenous fistulas are generally treated by nephrectomy, this case shows that embolization is a reasonable alternative to surger

Endovascular treatment of giant splenic aneurysm that developed after liver transplantation. Transpl Int. 2003 Oct;16(10):756-60. Epub 2003 Jun 28.

Splenic artery aneurysms (SAAs) are not uncommon in patients with portal hypertension. They are usually diagnosed in preliminary examinations prior to orthotopic liver transplantation (OLT) and are treated surgically at the time of transplantation. In our case, the patient developed a giant SAA after liver transplantation. This was detected incidentally upon routine ultrasound follow-up, and the diagnosis was confirmed on magnetic resonance (MR) angiography. The patient was treated by endovascular embolization because it is believed that this minimally invasive approach is beneficial in an immunocompromised patient following OLT. After coil embolization, to achieve complete and immediate blood flow exclusion of the sac, it was decided to inject some glue (N-butyl-2-cyanoacrylate) directly into the aneurysm. The aneurysm was successfully obliterated. To the best of our knowledge the use of cyanoacrylate glue in an SSA has never been reported

Endovascular treatment of giant splenic aneurysm that developed after liver transplantation.

Splenic artery aneurysms (SAAs) are not uncommon in patients with portal hypertension. They are usually diagnosed in preliminary examinations prior to orthotopic liver transplantation (OLT) and are treated surgically at the time of transplantation. In our case, the patient developed a giant SAA after liver transplantation. This was detected incidentally upon routine ultrasound follow-up, and the diagnosis was confirmed on magnetic resonance (MR) angiography. The patient was treated by endovascular embolization because it is believed that this minimally invasive approach is beneficial in an immunocompromised patient following OLT. After coil embolization, to achieve complete and immediate blood flow exclusion of the sac, it was decided to inject some glue ( N-butyl-2-cyanoacrylate) directly into the aneurysm. The aneurysm was successfully obliterated. To the best of our knowledge the use of cyanoacrylate glue in an SSA has never been reported

Hepatic artery pseudoaneurysm in von Willebrand's disease. Eur Radiol. 2003 Aug;13(8):1913-5. Epub 2002 Sep 3

We report a case of hepatic artery pseudoaneurysm which occurred in a patient with von Willebrand's disease. The patient presented with upper abdominal pain and diagnosis was made by US and CT examinations. This case emphasizes the possible association between an established coagulation disorder and pseudoaneurysm. The patient was successfully treated by coil embolizatio