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Finer G.,Northwestern University | Price H.E.,Northwestern University | Shore R.M.,Medical Imaging | White K.E.,Indiana University | Langman C.B.,Northwestern University
American Journal of Medical Genetics, Part A | Year: 2014

Hyperphosphatemic familial tumoral calcinosis (HFTC) is characterized by enhanced renal phosphate absorption, hyperphosphatemia, and tumor-like extraosseous calcifications due to inactivating mutations in FGF23 or associated proteins. Surgical excision is needed when low phosphate diet and phosphate binders are ineffective. Sporadic reports have supported acetazolamide use. We report on a 7-year-old African American boy who presented with severe HFTC requiring numerous surgical excisions. Tumors continued to appear and others reoccurred despite phosphate restriction and sevelamer carbonate. At the age of 9.5 years, acetazolamide (40mg/kg/day) was added and resulted in mild metabolic acidosis (bicarbonate 25.3mEq/L vs. 21.4mEq/L, P<0.001; serum pH 7.38 vs. 7.31, P=0.013, pre- and post-acetazolamide, respectively) but no change in tubular reabsorption of phosphate (TRP) (96.9% vs. 95.9%, P=0.34) or serum phosphate (6.6mg/dl vs. 6.9mg/dl, P=0.52 pre- and post-acetazolamide, respectively). Following the initiation of acetazolamide therapy, the patient experienced significant improvement in disease course as indicated by resolution of localized bone pain, cessation of tumor formation, and no tumor recurrence. Despite mild metabolic acidosis, our patient had improved linear growth and did not develop any other side effects related to therapy. Intact FGF23 remained abnormally low throughout disease course, while C-terminal FGF23 increased with acetazolamide. We conclude that acetazolamide can control severe HFTC by inducing mild metabolic acidosis despite no change in serum phosphate or TRP. This effect may be exerted though improved calcium-phosphate complex solubility and increased FGF23 locally. © 2014 Wiley Periodicals, Inc. Source

Cassart M.,Medical Imaging
Pediatric Radiology | Year: 2010

Skeletal dysplasias are a heterogeneous and complex group of conditions that affect bone growth and development and result in various anomalies in shape and size of the skeleton. Although US has proved reliable for the prenatal detection of skeletal abnormalities, the precise diagnosis of a dysplasia is often difficult to make before birth (especially in the absence of a familial history) due to their various phenotypic presentations, the variability in the time at which they manifest and often, the lack of precise molecular diagnosis. In addition to the accuracy of the antenatal diagnosis, it is very important to establish a prognosis. This is a clinically relevant issue as skeletal dysplasias may be associated with severe disability and may even be lethal. We will therefore describe the respective role of two-dimensional (2-D) US, three-dimensional (3-D) US and CT in the antenatal assessment of skeletal malformations. © Springer-Verlag 2010. Source

Brennan S.,Medical Imaging | Kandasamy Y.,The Townsville Hospital
Ultrasound in Medicine and Biology | Year: 2013

Low birth weight (LBW, <2500g) infants have a reduced number of glomeruli and nephrons and, therefore, smaller kidneys. The purpose of this pilot study was to determine whether renal parenchymal thickness might be a better indicator of renal growth. We carried out a pilot study over 12mo to determine whether renal parenchymal thickness could be used to detect differences in renal growth between LBW and normal birth weight (NBW, 2500-4500g) infants. Thirty-eight term infants (12 LBW and 26 NBW) underwent renal ultrasound. Parenchymal thickness, length, transverse diameter and antero-posterior diameter were measured. Mean renal parenchymal thickness was significantly lower in LBW infants than in NBW infants. Renal parenchymal thickness wasclosely correlated with an increase in renal volume (r=0.76, p<0.0001). Renal parenchymal thickness is a single measurement that could potentially be a more useful and accurate approach to monitoring renal growth in growth-restricted infants than renal volume. © 2013. Source

Rudaks L.I.,South Australian Clinical Genetics Service | Patel S.,Medical Imaging | Barnett C.P.,South Australian Clinical Genetics Service
Pediatric Neurology | Year: 2012

Pontine tegmental cap dysplasia is a rare neurologic condition first described by Barth et al. in 2007. It is characterized by a vaulted pontine tegmentum projecting into the fourth ventricle and ventral pontine hypoplasia. Patients present with developmental delay, cerebellar and pyramidal abnormalities, cranial nerve dysfunction, and various extracranial malformations. The condition is thought to occur as a result of aberrant neuronal axonal guidance during embryologic development. Its genetic etiology has not been identified. We describe a further case of this rare condition with several features not previously reported, including aortic arch hypoplasia and mirror movements. © 2012 Elsevier Inc. All rights reserved. Source

In memoriam: Laurence Clarke, visionary imaging scientist at US National Cancer Institute SPIE mourns the death on 16 April of SPIE Fellow Laurence P. (Larry) Clarke, who was a visionary leader of the Cancer Imaging Program (CIP) at the US National Cancer Institute (NCI) and steadfast supporter of new and emerging quantitative imaging technologies that address the cancer problem. Clarke was a visionary in the field of medical imaging for cancer with a particular focus on quantitative imaging methods across a range of imaging modalities to support clinical decision-making and cancer research. He established several NCI programs and research networks for the development and validation of quantitative imaging methods for current and next-generation imaging platforms that support multi-center clinical trials and preclinical research, most notably the Quantitative Imaging Network (QIN). "Larry Clarke was an imaging leader and the founder of the Quantitative Imaging Network program at NCI," said SPIE Vice President Maryellen Giger (pictured at right). "He was always enthusiastic, visionary, and effective, and really moved imaging forward in today's science of precision medicine. Dr. Clarke often attended SPIE Medical Imaging and most recently was the motivator behind the 2015 LungX Challenge, which brought together NCI, SPIE, and AAPM (the American Association of Physicists in Medicine)." The LungX Challenge was a project to evaluate quantitative image-analysis methods from multiple research labs for the diagnostic classification of malignant and benign lung nodules.

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