Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Background The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown. Methods We conducted a genomewide search for structural variants in two cohorts: 2080 patients with congenital kidney and urinary tract anomalies and 22,094 controls. We performed exome and targeted resequencing in samples obtained from 586 additional patients with congenital kidney anomalies. We also carried out functional studies using zebrafish and mice. Results We identified heterozygous deletions of 22q11.2 in 1.1% of the patients with congenital kidney anomalies and in 0.01% of population controls (odds ratio, 81.5; P=4.5×10(-14)). We localized the main drivers of renal disease in the DiGeorge syndrome to a 370-kb region containing nine genes. In zebrafish embryos, an induced loss of function in snap29, aifm3, and crkl resulted in renal defects; the loss of crkl alone was sufficient to induce defects. Five of 586 patients with congenital urinary anomalies had newly identified, heterozygous protein-altering variants, including a premature termination codon, in CRKL. The inactivation of Crkl in the mouse model induced developmental defects similar to those observed in patients with congenital urinary anomalies. Conclusions We identified a recurrent 370-kb deletion at the 22q11.2 locus as a driver of kidney defects in the DiGeorge syndrome and in sporadic congenital kidney and urinary tract anomalies. Of the nine genes at this locus, SNAP29, AIFM3, and CRKL appear to be critical to the phenotype, with haploinsufficiency of CRKL emerging as the main genetic driver. (Funded by the National Institutes of Health and others.)

Large Pericardial Cyst Presenting as Acute Cough: A Rare Case Report

Pericardial cysts are an uncommon cause of mediastinal masses and may be found incidentally on imaging. Symptoms commonly include cough, chest pain, and shortness of breath elucidating a broad differential on examination. Diagnosis is predominantly made using imaging modalities, such as CT, MRI, and CXR with treatment including resection for symptomatic cysts and observation for asymptomatic cysts. Due to a lack of specific signs and symptoms towards identifying pericardial cysts, many are identified at a later stage requiring resection by video-assisted thoracoscopic surgery (VATS). We present the rare case of a patient presenting with a sudden onset cough, shortness of breath, and pleuritic chest pain found to have a large pericardial cyst

Malignant Phyllodes Tumor in an Adolescent Female: A Rare Case Report and Review of the Literature

Primary breast neoplasms are rare in adolescent females, most of which are benign. Phyllodes tumors constitute a remarkably small subset of breast neoplasms (0.3-0.9%) with malignant phyllodes tumors being even more uncommon. Malignant phyllodes tumors tend to progress rapidly though only 1.5% metastasize. They are also associated with a higher rate of recurrence than their benign counterparts, underlying the importance of adequate surgical margins. It is therefore imperative to be able to identify these tumors early allowing for prompt resection and close follow-up. Here, we present the rare case of a 17-year-old female presenting with a rapidly enlarging breast mass, which was ultimately found to be a malignant phyllodes tumor. We further performed a review of the literature to highlight only 22 other cases reported in adolescent females

Squamous cell carcinoma arising in a partially ruptured giant mature cystic teratoma: A case report

Mature cystic teratomas are the most common ovarian germ cell tumors and represent 70% of the benign ovarian tumors occurring in women under age 30. In less than 2% of cases, these tumors can transform into malignancies. Squamous cell carcinoma arises most frequently from these tumors (in 80% of cases). Intra-peritoneal rupture accounts for approximately 1%-2% of cystic teratoma complications with most ruptures occurring either intraoperatively during laparoscopic surgery or due to trauma. This case report describes the common presentation, imaging, and pathologic findings of a mature cystic teratoma with 2 uncommon associated complications. Keywords: Mature ovarian teratoma, Ovarian germ cell tumor, Ovarian squamous cell cancer, Rupture, Malignant transformatio

Feature Matching Performance of Compact Descriptors for Visual Search

Abstract MPEG is currently developing a standard titled Compact Descriptors for Visual Search (CDVS) for descriptor extraction and compression. In this work, we report comprehensive patch-level experiments for a direct comparison of low bitrate descriptors for visual search. For evaluating different compression schemes, we propose a data set of matching pairs of image patches from the MPEG-CDVS image-level data sets. We propose a greedy rate allocation scheme for distributing bits across different spatial bins of the SIFT descriptor. We study a scheme based on Entropy Constrained Vector Quantization and greedy rate allocation, which performs close to the performance bound for any compression scheme. Finally, we present extensive feature-level Receiver Operating Characteristic (ROC) comparisons for different compression schemes (Vector Quantization, Transform Coding, Lattice Coding) proposed during the MPEG-CDVS standardization process

Feature Matching Performance of Compact Descriptors for Visual Search

MPEG is currently developing a standard titled Compact Descriptors for Visual Search (CDVS) for descriptor extraction and compression. In this work, we report comprehensive patch-level experiments for a direct comparison of low bitrate descrip-tors for visual search. For evaluating different compression schemes, we propose a data set of matching pairs of image patches from the MPEG-CDVS image-level data sets. We propose a greedy rate allocation scheme for distributing bits across different spatial bins of the SIFT descriptor. We study a scheme based on Entropy Constrained Vector Quantization and greedy rate allocation, which performs close to the performance bound for any compression scheme. Finally, we present extensive feature-level Receiver Operating Characteristic (ROC) comparisons for different compression schemes (Vector Quantization, Transform Coding, Lattice Coding) proposed during the MPEG-CDVS standardization process. 1

Recurrent Adolescent Giant-Cell Tumor of the Scaphoid: Scaphoid Excision with Intracarpal Fusion after Failed Curettage and Bone Grafting

We present a case of the giant-cell tumor of bone in the scaphoid of a 17-year-old female. Imaging revealed an expansile lytic lesion of her scaphoid, and the diagnosis was confirmed with open biopsy. She was treated with curettage and iliac crest bone graft, in an effort to spare reconstruction of her wrist. After one year, she developed increasing tightness and pain. Local recurrence was apparent on radiographs, and CT revealed increased lucency with bony destruction in the area of prior excision. She was successfully treated, without recurrence to date, with complete scaphoid excision and a four-corner wrist fusion. Local recurrence of the giant-cell tumor of bone is high, especially in carpal bones. When treating patients with advanced lesions, more aggressive initial options should be considered