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International audience; In two independent consanguineous families each with two children affected by mild intellectual disability and microcephaly, we identified two homozygous missense variants (c.119T>A [p.Met40Lys] and c.92T>A [p.Leu31His]) in TATA-box-binding-protein-associated factor 13 (TAF13). Molecular modeling suggested a pathogenic effect of both variants through disruption of the interaction between TAF13 and TAF11. These two proteins form a histone-like heterodimer that is essential for their recruitment into the general RNA polymerase II transcription factor IID (TFIID) complex. Co-immunoprecipitation in HeLa cells transfected with plasmids encoding TAF11 and TAF13 revealed that both variants indeed impaired formation of the TAF13-TAF11 heterodimer, thus confirming the protein modeling analysis. To further understand the functional role of TAF13, we performed RNA sequencing of neuroblastoma cell lines upon TAF13 knockdown. The transcriptional profile showed significant deregulation of gene expression patterns with an emphasis on genes related to neuronal and skeletal functions and those containing E-box motives in their promoters. Here, we expand the spectrum of TAF-associated phenotypes and highlight the importance of TAF13 in neuronal functions.

Objective Data on safety, effectiveness and amelioration of metabolic comorbidities are scarce for adolescents undergoing laparoscopic sleeve gastrectomy (LSG). Methods Data on a 17 year-old female who underwent LSG due to morbid obesity and quantification of visceral adipose tissue (VAT)/hepatic fat (HF) by MRI scan are presented. In addition, a review of the literature related to LSG in adolescent obesity is provided [search terms: laparoscopic sleeve gastrectomy, adolescence, obesity]. Results Pre-existing comorbidities in our patient included insulin resistance, NASH (HF: 28%) and hyperuricemia. BMI dropped from 52.9 kg/m2 to 40.4 and 35.0 kg/m2 after 6 and 24 months, respectively, following LSG. VAT dropped by 49.2% and by 71.5% within 6 and 24 months, accompanied by a decrease of HF to 1.53% and to 0.85%, respectively. Improvements of metabolic parameters towards normal range, which were reached within 6 months following LSG, could be maintained for 2 years. The review of the literature revealed that 9 original papers on LSG in adolescent obesity are available to date, ranging from single case presentations to case series of 108 patients and including children and adolescents 8–18 years. Conclusions LSG is a safe and – in the short term – effective bariatric procedure for adolescent obesity (follow up 24 months). Long-term results with larger numbers of patients and involving additional features, such as quantification of VAT and HF as markers of metabolic risk and insulin resistance, are warranted to further understand the effectiveness and safety and to further explore the long-term benefits of this procedure in adolescence.

Vertebral infection represents 2% to 4% of all cases of osteomyelitis in children. Extension of vertebral osteomyelitis into the vertebral arch is rare; and exclusive pyogenic involvement is exceedingly rare, especially in children. A review of the literature revealed less than 25 combined cases, most of them reported in the beginning of the 20th century without cross-sectional imaging. The unusual location creates difficulties in distinguishing vertebral osteomyelitis from neoplasm and arthritic conditions. We present 2 cases of infection of the posterior vertebral elements. Most useful in identifying the presence and extent of infection were a sudden onset of nonspecific back pain, elevated inflammatory parameters, and magnetic resonance imaging. Antibiotic therapy with or without surgical intervention provided successful management. With the recurrence observed in 1 child, the most optimal treatment of this condition might still be unknown.

Magnetic resonance imaging (MRI)-guided therapeutic interventions in children are very rare. In comparison to other imaging techniques, it is very unusual for MRI to be used for diagnostic percutaneous interventions despite its imaging benefits. We provide a brief description of available MRI systems and instruments and use clinical examples to present and discuss typical indications for percutaneous procedures while showing possibilities for percutaneous therapeutic interventions.

MRI guided interventions are a relatively new but steadily growing field within surgery in pediatric age. Besides the advantages of MRI, such as multiplanar capability and excellent soft tissue contrast and spatial resolution, particularly relevant for the pediatric population is the lack of ionizing radiation. There is meanwhile a group of well defined diagnostic or therapeutic indications for applying MR imaging during pediatric interventions. Aim of this review is to give an overview about indications of MR-guided procedures in children as well as the advantages and disadvantages of MR-guided interventions. We also briefly discuss interventional MR-systems and MR-compatible devices. It is our opinion that MR-guidance for pediatric interventions is a promising technique at the beginning of its development.

Vasculitits of the central nervous system (CNS) is a known complication of chronic inflammatory bowel diseases. We report the case of a female patient with Crohn's disease, developing vasculitis of the CNS with evidence of pathological vessel depiction on magnetic resonance angiography. To our knowledge this is the first case report regarding MRA documentation of vessel changes typical for angiitis in a patient with Crohn-associated vasculitis of the CNS.

AIM: We report the use of transcranial Doppler sonography (TCD) examinations in children (mean age 12.7 years; range 0.5–18 years) without an open fontanelle, using TCD equipment with a 2 MHz pulse wave transducer. Our results over a 7-year period are described. MATERIAL AND METHODS: A total of 858 children were referred from the paediatric outpatient department. All patients were divided into three groups according to the reason for referral. RESULTS: We found positive pathological results in the following: (1) headache and orthostatic dysregulation (0.4%, three out of 728); (2) acute neurological symptoms (5.4%, six out of 112); (3) other indications (22.2%, four out of 18). The positive predictive value of finding an abnormality was very low (0.50) . CONCLUSION: TCD examination is ineffective in children with non-specific headache or orthostatic dysregulation due to the specific limitations of this method. We found a higher percentage of abnormal results in children referred for other indications. However, since these children usually undergo MR imaging (and MR angiography, if necessary), in our opinion the TCD examination does not add any additional information. The value of TCD in children is not in the primary diagnosis of disease but in the follow up of known vascular processes (e.g. stenoses) or in chronic diseases including angiitis and sickle cell disease. Hirsch, W. et al . (2002). Clinical Radiology 57 , 492–497.

Extraluminal calcified meconium is found frequently by prenatal ultrasound in cases with bowel perforation and meconium peritonitis. Intraluminal intestinal meconium calcifications are rarely seen in prenatal sonography. Meconium calcifications result from a mixture of meconium and urine that indicates a connection between intestinal and urinary tract. We report a case of a male newborn prenatally diagnosed with intraluminal echogenic calcifications at 23 weeks of gestation, suggesting an anorectal malformation (ARM) with rectourinary fistula. At birth, the child presented with a complex ARM including high anal atresia with both perineal and rectourethral fistula. Furthermore, a bladder outlet obstruction due to a urethral stenosis was diagnosed. Vesicostomy was performed as an emergency procedure followed by colostomy during neonatal period. Posterior sagittal anorectoplasty was performed at the age of 4 months. Prenatal echogenic calcifications within bowel should raise the suspicion of ARM with rectourinary fistula and bladder outlet obstruction.

An automated system for measuring features of colour Doppler (CD) images has been examined for its ability to measure tissue perfusion in vivo under conditions of diffuse vascularity. Seven statistical features were extracted from CD images of human calf muscle and compared with the arterial input measured by plethysmography. It was found that, when appropriate scanning procedures are employed, good correlation is achieved with arterial input (r = 0.96 to 0.99). Ultrasound beam angle was important, even for the assessment of "colour area." A sensitive velocity scale was ideal for "percentage colour" (r = 0.979). "Mean colour velocity" correlates well with arterial input (r = 0.979) when the volocity scale was optimised for each CD scan. "Integrated colour velocity per unit area" was more responsive when using a variable velocity scale (r = 0.99) than a fixed velocity scale (r = 0.98), but was less responsive to low flow. Automated CD analysis speeds up the process of quantitative assessment of tissue vasculature and perfusion. It is therefore essential for the analysis of dynamic studies of ultrasound contrast agents and serial examinations when monitoring response to therapy.