Progressive development of renal cysts in glycogen storage disease type I.

Glycogen storage disease type I (GSDI) is a rare metabolic disease due to glucose-6 phosphatase deficiency, characterized by fasting hypoglycemia. Patients also develop chronic kidney disease whose mechanisms are poorly understood. To decipher the process, we generated mice with a kidney-specific knockout of glucose-6 phosphatase (K.G6pc-/- mice) that exhibited the first signs of GSDI nephropathy after 6 months of G6pc deletion. We studied the natural course of renal deterioration in K.G6pc-/- mice for 18 months and observed the progressive deterioration of renal functions characterized by early tubular dysfunction and a later destruction of the glomerular filtration barrier. After 15 months, K.G6pc-/- mice developed tubular-glomerular fibrosis and podocyte injury, leading to the development of cysts and renal failure. On the basis of these findings, we were able to detect the development of cysts in 7 out of 32 GSDI patients, who developed advanced renal impairment. Of these 7 patients, 3 developed renal failure. In addition, no renal cysts were detected in six patients who showed early renal impairment. In conclusion, renal pathology in GSDI is characterized by progressive tubular dysfunction and the development of polycystic kidneys that probably leads to the development of irreversible renal failure in the late stages. Systematic observations of cyst development by kidney imaging should improve the evaluation of the disease's progression, independently of biochemical markers.

Pre-treatment risk markers for hemorrhagic transformation in posterior circulation acute ischemic stroke treated with reperfusion therapy.

BACKGROUND: Hemorrhagic transformation (HT) is an uncommon complication of posterior circulation acute ischemic stroke (PCS) compared to anterior circulation stroke. Nevertheless, it remains a major concern especially following reperfusion therapy. This study aimed at identifying potential predictive factors associated with HT in PCS. METHODS: Consecutive patients, from a multicenter cohort, with PCS treated by IVT or EVT or the combination of both, were included from December 2015 to May 2019. The European Cooperative Acute Stroke Study criteria was used to identify HT. Potential risk factors were analyzed using univariate and multivariable testing models. RESULTS: A total of 96 patients were included in our study. Median age was 66 (57-83) years, 54 patients (56%) were male and median baseline NIHSS was 8 (4-14). 77 patients (80%) received IVT and 54 patients (56%) benefited from EVT. HT occurred in 19 patients (20%), while sHT occurred in 3 patients (3%). HT was found to be associated with poor functional status at 3 months in univariate analysis (p = 0.0084). Multivariable analysis confirmed that higher baseline NIHSS (OR 1.1008; 95% CI [1.0216-1.1862]; p = 0.0117) and lobar topography of ischemia (OR 4.4275; 95% CI [1.3732-14.2753]; p = 0.0127) were independent predictors of the occurrence of HT. DISCUSSION: HT is associated with increased morbidity in patients with PCS; higher NIHSS and lobar ischemia were independent predictors of HT in our population. Easy-to-use predictive markers may help to tailor therapeutic management of patients with PCS.

18F-FDG PET/CT and MRI in Necrotizing Autoimmune Myopathy: "The Scarface Sign".

Necrotizing autoimmune myopathy (NAM) is a relatively newly recognized subgroup of idiopathic inflammatory myopathies. The common histopathologic features are myocyte necrosis without significant inflammation. Necrotizing autoimmune myopathy can be associated with connective tissue disorders but can also be triggered by viral infections such as human immunodeficiency virus or malignancy, be statin-induced NAM, or be idiopathic. Here, the authors present the case of a 58-year-old man who was referred to our PET unit for a suspected paraneoplastic syndrome in a context of NAM. Complementary contrast-enhanced CT and 3-dimensional T1-weighted MRI were carried out subsequently in order to resolve the PET/CT abnormalities.