ARFI is feasible in children at any age with an acceptable reliability. The depth of measurements in the liver seems to have no influence on test results. We set the standard ARFI elastography values for healthy liver in children.

Zinner syndrome, the association of congenital seminal vesicle cyst and ipsilateral renal agenesis, is more often reported in adults or older adolescents. We present a case of a boy, followed up in our hospital since birth for right renal agenesis who at the age of 4 years presented a right paravesical cyst on ultrasound. The cyst was initially considered as an ureterocele. The diagnosis of Zinner syndrome was made later, at the age of 15 years by ultrasound and magnetic resonance imaging; at that moment the cyst had increased in size and had changed in aspect. This malformation should be considered in the differential diagnosis of a pelvic cyst in male patients with renal agenesis.

Background K. kingae is a common causative organism in acute osteoarticular infections (OAIs) in children under 4 years of age. Differentiation between K. kingae and Gram-positive cocci (GPC) is of great interest therapeutically. Objective Our aim was to identify early distinguishing MRI features of OAIs. Materials and methods Thirty-one children younger than 4 years of age with OAI underwent MRI at presentation. Of these, 21 were caused by K. kingae and ten by GPC. Bone and soft tissue reaction, epiphyseal cartilage involvement, bone and subperiosteal abscess formation were compared between the two groups. Interobserver agreement was measured. Results Bone reaction was less frequent (P = 0.0066) and soft tissue reaction less severe (P = 0.0087) in the K. kingae group. Epiphysis cartilage abscesses were present only in the K. kingae group (P = 0.0118). No difference was found for bone abscess (P = 0.1411), subperiosteal abscess (P = 1) or joint effusion (P = 0.4414). Interobserver agreement was good for all criteria.Conclusion MRI is useful in differentiating K. kingae from GPC in OAI. Cartilaginous involvement and modest soft tissue and bone reaction suggest K. kingae.

Objective Mutations in the prion‐like domain of RNA binding proteins cause dysfunctional stress responses and associated aggregate pathology in patients with neurogenic and myopathic phenotypes. Recently, mutations in ANXA11 have been reported in patients with amyotrophic lateral sclerosis and multisystem proteinopathy. Here we studied families with an autosomal dominant muscle disease caused by ANXA11:c.118G > T;p.D40Y. Methods We performed deep phenotyping and exome sequencing of patients from four large Greek families, including seven affected individuals with progressive muscle disease but no family history of multi‐organ involvement or ALS. Results In our study, all patients presented with an autosomal dominant muscular dystrophy without any Paget disease of bone nor signs of frontotemporal dementia or Parkinson's disease. Histopathological analysis showed rimmed vacuoles with annexin A11 accumulations. Electron microscopy analysis showed myofibrillar abnormalities with disorganization of the sarcomeric structure and Z‐disc dissolution, and subsarcolemmal autophagic material with myeloid formations. Molecular genetic analysis revealed ANXA11:c.118G > T;p.D40Y segregating with the phenotype. Interpretation Although the pathogenic mechanisms associated with p.D40Y mutation in the prion‐like domain of Annexin A11 need to be further clarified, our study provides robust and clear genetic evidence to support the expansion of the phenotypic spectrum of ANXA11.

Patients with non-transfusion-dependent thalassemia (NTDT) are at risk of developing brain ischemia. Transcranial Doppler (TCD) has been established as a useful screening tool of cerebrovascular disease in patients with sickle cell disease. Proteins neuron specific enolase (NSE) and S100B are biomarkers that reflect CNS injury. The purpose of this study is to evaluate cerebral vessel vasculopathy and brain damage in NTDT patients using non-invasive methods as TCD and measurement serum levels of NSE and S100B. We included in our study 30 patients with NTDT, aged between 8 and 62 years old (mean: 29.4, median: 32) who presented in our Unit for regular follow-up. We performed in all patients a non-imaging TCD examination and have measured serum S100, NSE and lactate dehydrogenase (LDH) levels. We investigated the possible correlation between TCD results and S100B, NSE and LDH levels as well as between NSE-LDH and S100B-LDH levels by regression analysis. We found a statistically significant relationship for both NSE, S100B with LDH. We also found a statistically significant relationship for S100B and time-averaged mean velocity (TAMV)/peak velocity of left middle cerebral artery (MCA), NSE and pulsatility index (PI)/resistive index (RI) of the left posterior cerebral artery (PCA). TCD results correlated with biomarkers for brain ischemia. This finding enhances the role of TCD as a screening tool for brain ischemia in patients with NTDT.