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Horseshoe kidney

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https://www.readbyqxmd.com/read/28343584/percutaneous-cryoablation-of-the-horseshoe-kidney-an-initial-experience
#1
Junjian Huang, Thomas D Atwell, A Nicholas Kurup, Stephen A Boorjian, R Houston Thompson, Grant D Schmit
Between June 2006 and January 2016, 6 renal cryoablation procedures were performed in 5 patients with horseshoe kidneys. Renal cell carcinoma (RCC) accounted for 5 of the tumors, and the sixth was a carcinoid tumor. All 6 procedures were technically successful. The patient with the carcinoid tumor developed local tumor progression 38 months after ablation. Technique effectiveness was achieved in all 5 patients with RCC. Two complications occurred: obstructive hematuria and transient inguinal neuralgia after ablation...
April 2017: Journal of Vascular and Interventional Radiology: JVIR
https://www.readbyqxmd.com/read/28327570/puf60-variants-cause-a-syndrome-of-id-short-stature-microcephaly-coloboma-craniofacial-cardiac-renal-and-spinal-features
#2
Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28289672/en-bloc-transplantation-of-horseshoe-kidney-in-korea
#3
Jun Bae Bang, Jae Myeong Lee, Chang-Kwon Oh, Kyo Won Lee, Jae Berm Park, Sung Joo Kim, Su Hyung Lee
Transplantation of the horseshoe kidney can be performed en bloc or split into 2 grafts according to the vascular anomaly and the existence of the urinary collecting system in isthmus. From 2011 to 2014, there were 3 horseshoe kidney transplantations in Korea and transplantations were performed at 2 different centers. The transplantations were carried out successfully for all recipients without complications. All recipients have shown good graft kidney function after transplantation. No severe complication was revealed during follow-up period...
March 2017: Annals of Surgical Treatment and Research
https://www.readbyqxmd.com/read/28276295/complete-bilateral-agenesis-of-the-diaphragm
#4
Mudher Al-Adnani, Andreas Marnerides
Bilateral agenesis of the diaphragm is a very rare congenital diaphragmatic defect. Bilateral congenital diaphragmatic hernia (CDH) is much more frequently associated with other anomalies compared with unilateral CDH (70% vs 30%-40%). These include cardiovascular, respiratory (other than lung hypoplasia), gastrointestinal, renal, and genital malformations. We report a case of complete bilateral agenesis of the diaphragm associated with a horseshoe kidney and an imperforate anus. These additional malformations have not previously been reported in association with complete bilateral agenesis of the diaphragm...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28248022/-laparoscopic-pyeloplasty-for-hydronephrosis-of-horseshoe-kidney
#5
B G Guliev
AIM: Horseshoe kidney is often associated with other congenital abnormalities and obstruction of pyeloureteral segment (PUS). The aim of our study was to evaluate the results of laparoscopic pyeloplasty (LP) in patients with hydronephrosis of horseshoe kidney. MATERIALS AND METHODS: From February 2010 to March 2016, 130 patients underwent LP. Ten (7.7%) of them (6 men and 4 women) had a hydronephrosis of horseshoe kidney. Left and right PUS obstruction were diagnosed in 6 and 4 patients, respectively...
November 2016: Urologii︠a︡
https://www.readbyqxmd.com/read/28225994/a-rare-case-of-ectopic-acth-syndrome-originating-from-malignant-renal-paraganglioma
#6
Esra Tutal, Demet Yılmazer, Taner Demirci, Evrim Cakır, Salih Sinan Gültekin, Bahadır Celep, Oya Topaloğlu, Erman Çakal
Ectopic adrenocorticotropic hormone (ACTH) syndrome is characterized by hypercortisolism due to the hypersecretion of a non-pituitary ACTH-secreting tumor leading to Cushing's syndrome. Only a few cases have been reported previously as causing ectopic ACTH related to paraganglioma. Herein, we present a case of Cushing's syndrome, in who was proved to be attributable to an ACTH-secreting renal malignant paraganglioma. A 40-year-old woman presented with a five-month history of newly diagnosed hypertension and diabetes, weakness, hyperpigmentation, oligomenorrhea, hirsutism, and acneiform lesions...
February 13, 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28216924/outcome-of-percutaneous-nephrolithotomy-in-anomalous-kidney-is-it-different
#7
Gaurav Prakash, Rahul Janak Sinha, Ankur Jhanwar, Ankur Bansal, Vishwajeet Singh
INTRODUCTION: Various anomalous kidneys such as horseshoe kidney, crossed ectopic kidney, simple ectopic kidney, pelvic ectopic kidney, kidney with duplex system, and malrotated kidney are frequently associated with stone disease. Percutaneous nephrolithotomy (PCNL) is a challenging procedure in these patients because of abnormal orientation of kidney. PATIENTS AND METHODS: Since 2005-2015, 86 patients underwent PCNL for stone removal in anomalous kidneys. Stone characteristics, type of calyceal puncture, number of punctures, need of relook procedures, mean hemoglobin drop, blood transfusion, mean operative time complications, mean hospital stay, stone free rate, and auxiliary procedure were analyzed...
January 2017: Urology Annals
https://www.readbyqxmd.com/read/28180090/supernumerary-kidney-associated-with-horseshoe-malformation-a-case-report-and-review-of-literature
#8
Hassan Jamshidian, Kiana Tavakoli, Faeze Salahshour, Amirreza Nabighadim, Erfan Amini
We report a case of supernumerary kidney associated with horseshoe malformation. A 35-year-old man presented complaining of vague and intermittent left flank pain from few months ago. Ultrasonography of urinary tract showed bilateral hydronephrosis and was suggestive of the horseshoe anomaly. Further evaluation with Intravenous urography showed three renal moieties consisting of a horseshoe kidney and a malrotated right kidney cephalad to and fused with the right moiety of horseshoe kidney.
February 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28073187/laparoscopic-heminephrectomy-for-benign-and-malignant-diseases-of-the-horseshoe-kidney
#9
Altug Tuncel, Anil Erkan, Mustafa Sofikerim, Murat Arslan, Yakup Kordan, Yigit Akin, Yilmaz Aslan
OBJECTIVES: In the current study, we present our pure laparoscopic heminephrectomy experience in 13 patients with horseshoe kidney (HK). MATERIAL AND METHODS: A total of 13 patients with HK underwent pure laparoscopic heminephrectomy (Transperitoneal= 7, Retroperitoneal = 6) due to benign and malign renal conditions (non-functional hydronephrotic and/or infected kidney = 12, kidney mass = 1). RESULTS: The mean age of the patients was 45.8 years...
December 30, 2016: Archivio Italiano di Urologia, Andrologia
https://www.readbyqxmd.com/read/28000646/renal-cell-carcinoma-in-a-horseshoe-kidney-report-of-a-rare-disease
#10
Kehinde Habeeb Tijani, Rufus Wale Ojewola, Dubem E Orakwe, Abisola E Oliyide
A horseshoe kidney (HSK) is the most common congenital renal fusion anomaly. HSKs are more likely than normal kidneys to have associated problems of stones, ureteropelvic junction obstruction, stasis and infection. However, they do not have an increased incidence of renal cell carcinoma when compared to normal kidneys. Due to its rarity, accurate diagnosis may be difficult. Of similar significance is the fact that problems may arise during surgery on these kidneys due to altered anatomy and aberrant blood supply...
October 2016: Nigerian Postgraduate Medical Journal
https://www.readbyqxmd.com/read/27976569/horseshoe-kidney-with-growth-retardation-don-t-forget-turner-syndrome
#11
Seçil Arslansoyu-Çamlar, Alper Soylu, Ayhan Abacı, Mehmet Atilla Türkmen, Ayfer Ülgenalp, Salih Kavukçu
Horseshoe kidney is the most frequent renal fusion anomaly that is usually asymptomatic and isolated malformation. However it can be seen with various syndromes and chromosomal anomalies. It was reported that 15-35% of Turner syndrome cases (TS) also display horseshoe kidney condition. TS is a chromosomal anomaly that had been characterized by delayed puberty, short body height and gonadal dysgenesis. In this report a five-year-old girl with horseshoe kidney, which has growth retardation during follow-up as only symptom of Turner syndrome...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27967296/new-jag1-mutation-causing-alagille-syndrome-presenting-with-severe-hypercholesterolemia-case-report-with-emphasis-on-genetics-and-lipid-abnormalities
#12
Zeina C Hannoush, Herminia Puerta, Mislen S Bauer, Ronald B Goldberg
CONTEXT: Alagille syndrome is a rare autosomal dominant genetic disorder caused by defects in the Notch signaling pathway that involves multiple organ systems. Bile duct paucity is the main characteristic feature of the disease, which often leads to cholestatic hypercholesterolemia. CASE DESCRIPTION: We report the case of a male infant who at one year of age had developed failure to thrive, jaundice, intermittent pruritus and multiple diffuse symmetrical skin xanthomas...
December 14, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27932430/bladder-agenesis-ectopic-ureters-and-a-multicystic-dysplastic-horseshoe-kidney-in-one-twin-newborn-with-normal-amniotic-fluid-index-in-utero
#13
Marium Naveed Khan, William F Walsh
A monochorionic-diamniotic twin baby presented with intrauterine growth restriction and anuria. The baby was found to have bladder agenesis, a pelvic dysplastic horseshoe kidney, vertebral anomalies, a ventricular septal defect and facial dysmorphisms. It was surprising to find no abnormalities in amniotic fluid indices prenatally, suggesting the possibility of urine output that declined as the pregnancy proceeded. Some degree of twin-to-twin transfusion of amniotic fluid was also possible, which could have rescued the oligohydramnios known to be associated with kidney and urinary tract abnormalities...
December 8, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27895945/congenital-renal-fusion-and-ectopia-in-the-trauma-patient
#14
Andrew A Rosenthal, Jordan J Ditchek, Seong K Lee, Rafael Sanchez, Chauniqua Kiffin, Dafney L Davare, Eddy H Carrillo
We present two separate cases of young male patients with congenital kidney anomalies (horseshoe and crossed fused renal ectopia) identified following blunt abdominal trauma. Despite being rare, ectopic and fusion anomalies of the kidneys are occasionally noted in a trauma patient during imaging or upon exploration of the abdomen. Incidental renal findings may influence the management of traumatic injuries to preserve and protect the patient's renal function. Renal anomalies may be asymptomatic or present with hematuria, flank or abdominal pain, hypotension, or shock, even following minor blunt trauma or low velocity impact...
2016: Case Reports in Emergency Medicine
https://www.readbyqxmd.com/read/27879491/18f-fdg-pet-ct-in-renal-infections-evidence-of-acute-pyelonephritis-in-a-horseshoe-kidney
#15
Maxime Morelle, Alice Jaillard, Dimitri Bellevre, Guillaume Collet, Grégory Petyt
A 58-year-old paraplegic patient was prescribed F-FDG for persistent inflammatory syndrome after aortic surgery for dissection. The examination was performed on a Siemens mCT Flow PET/CT and shows a moderate prostate uptake, related to prostatitis on self-catheterization and a focal renal cortical hypermetabolism of the left medial midpole of a horseshoe kidney, which corresponds to renal parenchyma on the CT, and suggests pyelonephritis, confirmed by Tc-DMSA SPECT/CT.
February 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/27853024/extraskeletal-osteosarcoma-of-the-orbit-a-clinicopathologic-case-report-and-review-of-literature
#16
V M D S de Maeyer, P A F A Kestelyn, Akash D Shah, C M Van Den Broecke, H G N Denys, C E Decock
Primary extraskeletal osteosarcoma (EOS) is an extremely rare malignancy. In this report, the clinical course of a 32-year-old man presenting with proptoses is described. Medical history included Hirschsprung disease (HD), horseshoe kidney, azoospermia, and vertebral anomalies. Imaging of the orbit showed an oval, well-defined heterogeneous mass adjacent to the lateral wall of the orbit. The patient underwent a lateral orbitotomy and complete excision of the mass. The mass was not attached to the bone. Histopathologic and immunohistochemical examination confirmed the diagnosis of an EOS...
September 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27803081/renal-neuroendocrine-tumour-and-synchronous-pancreas-metastasis-histopathological-diagnosis-using-prostatic-acid-phosphatase
#17
Keishi Kawasaki, Yoshikuni Kawaguchi, Yoshio Suzuki, Nobutaka Tanaka
A woman aged 56 years developed 2 synchronous tumours: one, 1.2 cm in diameter at the head of the pancreas; and the other, 4.0 cm in diameter, at the left side of her horseshoe kidney. Preoperative differential diagnosis of these hypovascular lesions included pancreatic ductal carcinoma (PDC) with renal metastasis, PDC with renal angiomyolipoma, renal cell carcinoma with pancreatic metastasis or PDC and renal cell carcinoma. Following pancreaticoduodenectomy and left nephrectomy, both specimens were diagnosed as grade 2 neuroendocrine tumours (NETs)...
November 1, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27778495/laparoscopic-pyeloplasty-in-children-with-horseshoe-kidney
#18
Paulo Renato Marcelo Moscardi, Roberto Iglesias Lopes, Marcos Figueiredo Mello, Cristovao Machado Barbosa, Bruno Nicolino Cezarino, Lorena Marçalo Oliveira, Francisco Tibor Dénes, Miguel Srougi
INTRODUCTION: Horseshoe kidney occurs in 1 per 400-800 live births and are more frequently observed in males (M:F 2:1). Ureteropelvic junction obstruction (UPJO) is commonly associated with horseshoe kidneys. The variable blood supply, presence of the isthmus and high insertion of the ureter contribute to this problem. CASE REPORT: An asymptomatic 6 year-old boy presented with antenatal hydronephrosis. Ultrasonography and CT scan demonstrated left UPJO associated with a horseshoe kidney...
March 2017: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/27753663/primary-carcinoid-tumor-of-the-renal-pelvis-arising-from-intestinal-metaplasia-an-unusual-histogenetic-pathway
#19
Maria G Kuba, Allison Wasserman, Cindy L Vnencak-Jones, Julia A Bridge, Lan Gellert, Omar Hameed, Giovanna A Giannico
OBJECTIVES: Primary carcinoid tumor of the renal pelvis is a rare neoplasm with few cases reported in the literature. Here we present the clinical and histopathologic findings of a primary carcinoid tumor arising in the left renal pelvis of a horseshoe kidney in a 61-year-old female patient. MATERIALS AND METHODS: Pathologic features were evaluated with standard hematoxylin and eosin sections and immunohistochemical studies. A literature review was performed to place our case in context to previous reports...
October 7, 2016: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/27733990/laparoscopic-pyeloplasty-for-ureteropelvic-junction-obstruction-in-an-incompletely-duplicated-collecting-system-in-a-patient-with-a-horseshoe-kidney
#20
Nobuo Tsuru, Soichi Mugiya, Yutaka Kurita, Shigenori Sato, Yasuhiro Hirano
We present a case of UPJO associated with an incompletely duplicated collecting system in a horseshoe kidney that was successfully treated by laparoscopic pyeloplasty with concomitant pyelolithotomy. A 53-year-old man had three urological anomalies and urolithiasis. We performed a pyeloplasty and pyelolithotomy using a fully intracorporeal technique. Clinical and radiographic evaluation confirmed complete resolution of the patient's condition. To our knowledge, there have been no reported cases of UPJO in an incompletely duplicated collecting system with a horseshoe kidney in the same patient...
November 2016: Urology Case Reports
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