The present article reports a triad of right renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction (Zinner syndrome) in a 19-year boy who presented with urinary symptoms. A detailed review of the relevant literature is also presented.
We performed whole-exome sequencing of a family with autosomal dominant Dandy-Walker malformation and occipital cephaloceles (ADDWOC) and detected a mutation in the extracellular matrix protein encoding gene NID1. In a second family, protein interaction network analysis identified a mutation in LAMC1, which encodes a NID1 binding partner. Structural modeling the NID1-LAMC1 complex demonstrated that each mutation disrupts the interaction. These findings implicate the extracellular matrix in the pathogenesis of Dandy-Walker spectrum disorders.
Purpose To evaluate whether shear-wave sonoelastography can help differentiate stable renal allograft from acute allograft dysfunction and chronic allograft dysfunction and to correlate shear-wave sonoelastography measurements with resistive index (RI), serum creatinine level, estimated glomerular filtration rate (eGFR) obtained with the Nankivell equation, and biopsy findings. Materials and Methods A prospective study of 60 patients who had undergone renal transplantation was conducted between October 2014 and March 2016. Patients were classified as having stable allograft, acute allograft dysfunction, or chronic allograft dysfunction on the basis of clinical parameters. Mean parenchymal stiffness was compared. The Banff score was used wherever applicable. Receiver operating characteristic curves were drawn to evaluate the feasibility of differentiation. Results Thirty patients had graft dysfunction (acute in 19 patients and chronic in 11). Mean parenchymal stiffness values in stable allograft, acute allograft dysfunction, and chronic allograft dysfunction were 8.51 kPa ± 2.44, 11.06 kPa ± 2.91, and 24.50 kPa ± 4.49, respectively (stable vs acute dysfunction, P = .010; stable vs chronic dysfunction, P < .001; acute sysfunction vs chronic dysfunction, P < .001). The allograft parenchymal stiffness values for patients with Banff grade I (mild interstitial fibrosis and tubular atrophy) differed significantly from those with Banff grade II (moderate interstitial fibrosis and tubular atrophy) (P = .02). Parenchymal stiffness showed a negative correlation with eGFR (r = -0.725; P < .001) and a positive correlation with RI (r = 0.562; P < .001) and serum creatinine level (r = 0.714; P < .001). The sensitivity was 73.68% and specificity was 80% in the differentiation of stable graft from acute graft dysfunction (threshold value, 10.11 kPa). Conclusion Shear-wave sonoelastographic evaluation of renal parenchymal stiffness may help differentiate stable allograft from acute and chronic allograft dysfunction. The inverse correlation of parenchymal stiffness with eGFR and positive correlation with RI and serum creatinine level show that shear-wave sonoelastography may reflect functional status of the renal allograft.
As Laparoscopic Donor Nephrectomy (LDN) offers several advantages for the donor such as lesser post-operative pain, fewer cosmetic concerns and faster recovery time, there is growing global trend towards LDN as compared to open nephrectomy. Comprehensive pre-LDN donor evaluation includes assessment of renal morphology including pelvi-calyceal and vascular system. Apart from donor selection, evaluation of the regional anatomy allows precise surgical planning. Due to limited visualization during laparoscopic renal harvesting, detailed pre-transplant evaluation of regional anatomy, including the renal venous anatomy is of utmost importance. MDCT is the modality of choice for pre-LDN evaluation of potential renal donors. Apart from appropriate scan protocol and post-processing methods, detailed understanding of surgical techniques is essential for the Radiologist for accurate image interpretation during pre-LDN MDCT evaluation of potential renal donors. This review article describes MDCT evaluation of potential living renal donor, prior to LDN with emphasis on scan protocol, post-processing methods and image interpretation. The article laid special emphasis on surgical perspectives of pre-LDN MDCT evaluation and addresses important points which transplant surgeons want to know.
Pelvic peritoneal adhesions constitute an important cause of concern which affects the life of millions of people worldwide due to complications like abdominal pain, bowel obstruction and infertility along with challenges in surgical exploration. Precise pre-operative diagnosis of the presence and extent of peritoneal adhesions is of great clinical and surgical importance. Diagnostic laparoscopy to detect peritoneal adhesions may itself lead to formation of adhesions. Routine CT and MRI studies are therefore useful non-invasive modalities to achieve this objective. This review article provides a brief background about the causation and patho-physiology of peritoneal adhesions. The article also addresses the range of clinical presentations in these patients, mainly from the gynecologic perspective. This article provides an illustrative review of CT and MRI findings with laparoscopic correlation. A new ‘imaging-based grading system’ for pre-operative quantification of the burden of peritoneal adhesions is also proposed. Despite practical challenges in accurate pre-operative diagnosis of peritoneal adhesions on imaging, detection of peritoneal adhesions is certainly feasible on routine CT and MRI scans and should be an integral part of image interpretation.
A 62-year-old man with asthma sought care for intermittent fever, cough with expectoration, breathlessness and orthopnoea with grunting. Computed tomography revealed clusters of centrilobular nodules on both sides with a tree-in-bud appearance and mild diffuse bronchial wall thickening. Sputum sample grew pure colonies of Actinobacillus ureae which was confirmed by MALDI-TOF and 16SrRNA gene sequencing. A. ureae may be an additional bacteriologic causative agent of the tree-in-bud pattern on computed tomographic scan.
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