We describe two siblings from a consanguineous family with autosomal recessive Fanconi's syndrome and hypophosphatemic rickets. Genetic analysis revealed a homozygous in-frame duplication of 21 bp in SLC34A1, which encodes the renal sodium-inorganic phosphate cotransporter NaPi-IIa, as the causative mutation. Functional studies in Xenopus laevis oocytes and in opossum kidney cells indicated complete loss of function of the mutant NaPi-IIa, resulting from failure of the transporter to reach the plasma membrane. These findings show that disruption of the human NaPi-IIa profoundly impairs overall renal phosphate reabsorption and proximal-tubule function and provide evidence of the critical role of NaPi-IIa in human renal phosphate handling.

Glycine is a major neurotransmitter that activates inhibitory glycine receptors and is a co-agonist for excitatory glutamatergic N-methyl-D-aspartate (NMDA) receptors. Two transporters, GLYT1 and GLYT2, regulate extracellular glycine concentrations within the CNS. Dysregulation of the extracellular glycine has been associated with hyperekplexia and nonketotic hyperglycinemia. Here, we report four individuals from two families who presented at birth with facial dysmorphism, encephalopathy, arthrogryposis, hypotonia progressing to hypertonicity with startle-like clonus, and respiratory failure. Only one individual survived the respiratory failure and was weaned off ventilation but has significant global developmental delay. Mildly elevated cerebrospinal fluid (CSF) glycine and normal serum glycine were observed in two individuals. In both families, we identified truncating mutations in SLC6A9, encoding GLYT1. We demonstrate that pharmacologic or genetic abolishment of GlyT1 activity in mice leads to mildly elevated glycine in the CSF but not in blood. Additionally, previously reported slc6a9-null mice and zebrafish mutants also display phenotypes consistent with the affected individuals we examined. Our data suggest that truncating SLC6A9 mutations lead to a distinct human neurological syndrome hallmarked by mildly elevated CSF glycine and normal serum glycine.

Objective: Partial demarcation and infarction of the upper pole of the spleen is not a rare occurrence after laparoscopic sleeve gastrectomy (LSG). However, development of an abscess in the absence of leakage is extremely rare. Case Reports: We present herein two unusual case reports of splenic abscess in patients following LSG.

Objective. The purpose of this study was to assess the accuracy of sonographic pneumothorax detection by radiology residents as a part of extended focused assessment with sonography for trauma (eFAST). Methods. In a prospective study, a sonographic search for pneumothoraces was performed as part of a standard FAST examination by the on-call resident. Each lung field was scanned at the second to fourth anterior intercostal spaces and the sixth to eighth midaxillary line intercostal spaces. A normal pleural interface was identified by the presence of parietal-over-visceral pleural sliding with "comet tail" artifacts behind. Absence of these normal features indicated a pneumothorax. The sonographic diagnosis was correlated with supine chest radiography and chest computed tomography (CT). Results. A total of 338 lung fields in 169 patients were included in the study. Patients underwent eFAST, chest radiography, and chest CT when clinically indicated. Chest CT was considered the reference standard examination. Computed tomography identified 43 pneumothoraces (13%): 34 small and 9 moderate. On chest radiography, 7 pneumothoraces (16%) were identified. Extended FAST identified 23 pneumothoraces (53%). Compared with CT, eFAST had sensitivity of 47%, specificity of 99%, a positive predictive value of 87%, and a negative predictive value of 93%. All of the moderate pneumothoraces were identified by eFAST. Twenty small pneumothoraces missed by eFAST did not require drainage during the hospitalization period. Conclusions. Extended FAST performed by residents is an accurate and efficient tool for early detection of clinically important pneumothoraces. Key words: focused assessment with sonography for trauma; pneumothorax; residents. erated lungs present a challenge for sonographic examination because of the high acoustic impedance of air. Despite this, an echogenic interval between chest wall soft tissues and the lung can be seen. The normal pleura can be identified by the presence of lung sliding, shown as a to-and-fro movement of the visceral and parietal pleura during breathing, and "comet tail" artifacts seen as hyperechoic reverberation artifacts extending from the pleura down to the lung.1 Absence of these features points to the presence of a pneumothorax. The diagnosis of a pneumothorax can be confirmed further by finding the "lung point," the point where normal sonographic lung features disappear,