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Nakrani Radhika N RN Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, - - 2014
Key teaching points • Muir-Torre Syndrome (MTS) is an autosomal dominant cancer syndrome that results from a mutation in mismatch repair genes. It is characterized by sebaceous neoplasms, keratoacanthomas, and visceral neoplasm(s) affecting the colon, uterus, ovaries, bladder, or other organs. • Mismatch repair immunohistochemistry and microsatellite instability testing of ...
Szeto Cheuk-Chun CC Department of Medicine & Therapeutics, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, Hong Kong, China. Electronic address: - - 2014
Nephrotic syndrome is a common problem in clinical nephrology. In general, nephrotic syndrome is pathognomonic of glomerular disease, but the underlying pathological etiology is highly variable. Although kidney biopsy is the standard method to classify the histology and determine the extent of renal scarring, it is an invasive procedure with ...
Rourke William W MRC Centre for Transplantation, King's College London; Department of Urology, Guy's Hospital, London. - - 2014
Interstitial cystitis or bladder pain syndrome (BPS) is often a chronic debilitating condition characterised by predominantly storage symptoms and associated frequently with pelvic pain that varies with bladder filling. The aetiology is uncertain as the condition occurs in the absence of a urinary tract infection or other obvious pathology. Resulting ...
Rosier Peter F W M PF Department of Urology, University Medical Centre Utrecht, Utrecht, The - - 2014
The ICI-RS Think Tank discussed the diagnostic process for patients who present with symptoms and signs of lower urinary tract (LUT) dysfunction. This manuscript reflects the Think Tank's summary and opinion. An overview of the existing evidence and consensus regarding urodynamic testing was presented and discussed in relation to contemporary ...
Birder Lori A LA Departments of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania; Departments of Pharmacology & Chemical Biology, University of Pittsburgh School of Medicine, Pittsburgh, - - 2014
There is abundant evidence that the lower urinary tract (LUT) mucosal layer is involved both in mechanosensory functions that regulate bladder contractile activity and in urethral sensation. Changes to the mucosa can be associated with a number of bladder pathologies. For example, alterations of the urothelium and underlying lamina propria ...
Drake Marcus J MJ School of Clinical Sciences, University of Bristol and Bristol Urological Institute, Bristol, United - - 2014
Overactive bladder syndrome (OAB) has a symptom-based definition. Following a presentation of issues, the definition was subjected to expert discussion at the International Consultation on Incontinence Research Society to identify key issues. OAB is a widely used term; it is a pragmatic approach to categorizing a recognized group of patients, ...
Sheehan Michael - - 2014
Purple urine bag syndrome (PUBS) is a constellation of findings resulting in purple discoloration of the urine and/or urine drainage bag(s) occurring in patients with long-term urinary indwelling catheters. Other causative factors may include constipation, female gender, the presence of bacteria containing sulphatase and phosphatase enzymes, and alkaline urine. While ...
Fan Yu-Hua YH Department of Urology, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang-Ming University, Taipei, Taiwan; Shu-Tien Urological Science Research Center, Taipei, - - 2014
To detect non-bladder conditions in patients with interstitial cystitis/hypersensitive bladder syndrome. A total of 122 female interstitial cystitis/hypersensitive bladder syndrome patients and a control group of 122 age-matched female patients with stress urinary incontinence completed screening questionnaires for irritable bowel syndrome, temporomandibular disorder, multiple chemical sensitivities, tension and migraine headache, ...
Lee Jane-Dar JD Division of Urology, Department of Surgery, Taichung Armed Forces General Hospital, Taichung, Taiwan; Central Taiwan University of Science and Technology, Taichung, - - 2014
To study the relationship between hypoxia and metallothionein expression in bladder biopsies of interstitial cystitis/painful bladder syndrome patients. The study group consisted of 41 patients with interstitial cystitis/painful bladder syndrome, and the control group consisted of 12 volunteers without any interstitial cystitis/painful bladder syndrome symptoms. All biopsy specimens were analyzed ...
Kuo Hann-Chorng HC Department of Urology, Buddhist Tzu Chi General Hospital and Tzu Chi University, Hualien, - - 2014
There is a lack of consensus on the pathophysiology of bladder pain syndrome/interstitial cystitis. The chronic pain symptoms of bladder pain syndrome/interstitial cystitis refractory to local treatment could be a result of central nervous system sensitization and persisting abnormalities in the bladder wall, which activate the afferent sensory system. Evidence ...
Logadottir Yr Y Department of Urology, Sahlgrenska University Hospital, Gothenburg, - - 2014
Interstitial cystitis is regarded as a heterogenous syndrome with two distinguishable forms: the non-ulcer and the classic form of interstitial cystitis, the latter with Hunner's lesions; or bladder pain syndrome type 3C and non-Hunner bladder pain syndrome, respectively. A cohort of 379 patients diagnosed with interstitial cystitis was studied. Nitric ...
Radstaake Maartje M Behavioral Science Institute, Radboud University Nijmegen , Nijmegen , The Netherlands - - 2014
Abstract Objective: To asses possible bladder dysfunctions and lower urinary tract symptoms (LUTS) in individuals with Angelman syndrome (AS), since remarkable voiding characteristics were found in previous studies on toilet training and incontinence in AS. Method: Uroflowmetric analysis, a non-invasive technique to assess the voiding pattern, was conducted in six ...
Liang Dongfeng D Department of Rheumatology, Chinese PLA General Hospital, 28 Fuxing Road, Beijing, 100853, People's Republic of China, - - 2014
We present a case report of a patient with Sjögren's syndrome accompanied with interstitial cystitis. A 64-year-old woman complained of dry mouth for 21 years, recurrent swelling and pain on the right parotid in 2000, and urinary irritation symptoms in the past 2 years. Several courses of different types of antibiotics could ...
Yunus Mahira M Department of Radiology, Singh Institute of Urology and Transplantation, Karachi. - - 2014
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare developmental failure of Müllerian ducts. Principle clinical features of MRKH syndrome are primary amenorrhoea associated with congenital absence of vagina, uterine anomalies, normal ovaries, 46 XX karyotype with normal female secondary sexual characteristics and frequent association with renal, skeletal, and other congenital anomalies. A ...
Tu Yaqin Y The Center for Biomedical Research, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 1095 Jiefang Ave., Wuhan 430030, - - 2014
The Urofacial (Ochoa) Syndrome (UFS) is a rare autosomal recessive disorder and over 100 patients have been reported thus far. UFS is characterized by the abnormal facial expression and dysfunctional voiding. The patients show a peculiar distortion of the facial expression (grimacing as if in pain or sadness when they ...
Agapakis DI D Department of Internal Medicine, General Hospital of Goumenissa, Kilkis, - - 2014
Purple urine bag syndrome is an uncommon phenomenon where the plastic urinary catheter bag and tubing turn purple. It occurs in some elderly constipated chronic urinary catheterization patients. The phenomenon is attributed to the presence of metabolites of tryptophan in the presence of urinary tract infection.This urine discoloration may lead ...
Tuglu Devrim D Department of Urology, Faculty of Medicine, University of Kirikkale, Yahsihan, 71100 Kirikkale, - - 2014
A 38-year-old male patient was admitted to our outpatient department because of frequency and urgency incontinence. During evaluation it was detected that the patient was suffering from frequency which was progressive for one year, feeling of incontinence, and urgency incontinence. There was no urologic pathology detected in patient's medical and ...
Osman Nadir I - - 2013
Urinary retention in women is an uncommon and poorly understood condition. In 1986, Fowler and colleagues described a syndrome in young women with unexplained urinary retention associated with polycystic ovary syndrome. The underlying abnormality was a poorly relaxing external urethral sphincter that when studied using concentric needle electromyography showed a ...
Khakhariya Ravi R Pharmacology Laboratory, Pharmacy Department, Faculty of Technology and Engineering, The M.S. University of Baroda, - - 2013
Carboplatin is a congener of cisplatin used in the treatment of ovarian, head and neck and small-cell lung cancer. However, the clinical efficacy of carboplatin is marred by the development of ROS-dependent nephrotoxicity. The pathophysiological damage inflicted upon the kidney by carboplatin closely resembles to that of Fanconi syndrome. The ...
Mermerkaya Murat - - 2013
The urofacial syndrome is a rare condition that occurs in both genders and characterized by uropathy and facial abnormalities. Early diagnosis is crucial for the management and prognosis of urinary problems. Paradoxical inversion of facial musculature when smiling, giving an appearance of crying associated with severe urinary tract dysfunction is ...
Versteegh Hendt P - - 2013
BackroundThe combination of a presacral mass, a sacral bone deformity, and an anorectal malformation are also known as the Currarino triad or Currarino syndrome. The syndrome is associated with a very high rate of severe and intractable constipation and urinary incontinence. However, it can also result in less common complaints ...
Anzai Yuko - - 2013
We report the first case of Beckwith-Wiedemann syndrome without urinary obstruction, but with a congenital urethral polyp as a tumor protruding from the external urinary meatus. The present case suggests a possible relation between Beckwith-Wiedemann and the onset of fibroepithelial polyps in the reno-urinary system during the neonatal period.
Sarhan Osama M OM Department of Urology, Pediatric Urology Unit, Riyadh Military Hospital, Riyadh, Kingdom of Saudi - - 2013
Association between Prune belly syndrome (PBS) and urethral hypoplasia is an unusual condition. It is usually fatal unless there is a communication between the fetal bladder and the amniotic sac. We report a case of PBS with urethral hypoplasia and congenital vesico-cutaneous fistula in a male neonate. Patient underwent cutaneous ...
Tu Albert - - 2013
Tethered cord syndrome is a well-defined condition, the management of which is fairly uniform. In contrast, occult tethered cord syndrome is a recently defined entity, where the management is still controversial. The pathophysiology is unclear and may be conceptually incongruent with current understanding of typical tethered cord syndrome. Presentation, investigation, ...
Alumbreros Andújar María Trinidad - - 2013
Obstructed hemivagina and ipsilateral renal anomaly (OVHIRA) syndrome is a congenital urogenital malformation that associates a bifid uterus with a longitudinal vaginal septum, resulting in a blind hemivagina and an ipsilateral renal agenesis. The clinical presentation is highly variable, delaying diagnosis and leading to important complications. An 18-year-old woman was ...
- - 2013
Urinary incontinence, the involuntary leakage of urine, can result from abnormalities of the urinary tract or may be caused by other conditions and is sub-divided into a number of classifications including stress incontinence and urge urinary incontinence.(1) Urge urinary incontinence (UUI) is involuntary urine leakage accompanied by urgency of micturition.(2) ...
Goswami Dibyajyoti - - 2013
The prune belly syndrome is a rare congenital anomaly which is characterized by the triad of an absent or a deficient development of the abdominal muscle, bilateral cryptorchidism and an anomalous urinary tract. In its full form, this condition occurs only in males. However, a similar condition occurs in females ...
Kim Sung Han - - 2013
To identify the voiding characteristics of bladder pain syndrome/interstitial cystitis and overactive bladder. Between September 2005 and June 2010, 3-day voiding diaries of 49 consecutive bladder pain syndrome/interstitial cystitis patients and 301 overactive bladder patients were prospectively collected at an outpatient clinic and retrospectively analyzed. The characteristics of the two ...
Woolf Adrian S - - 2013
The urofacial, or Ochoa, syndrome is characterised by congenital urinary bladder dysfunction together with an abnormal grimace upon smiling, laughing and crying. It can present as fetal megacystis. Postnatal features include urinary incontinence and incomplete bladder emptying due to simultaneous detrusor muscle and bladder outlet contractions. Vesicoureteric reflux is often ...
Byon Mina M Department of Obstetrics and Gynecology, Chung-Ang University College of Medicine, Seoul, - - 2013
Prune-belly syndrome may be related to lower urinary tract obstruction (LUTO). LUTO in the early gestational age exacerbates fetal renal function and may require intrauterine intervention. If early developed LUTO causes bladder distension and abdominal musculature deficiency, it will result in prune belly syndrome. Therefore, early detection of the disease ...
Lloyd Jessica C - - 2013
Anecdotal evidence suggests that complex congenital genitourinary anomalies are occurring less frequently. However, few epidemiological studies are available to confirm or refute this suggestion. The Kids' Inpatient Database (KID) is a national, all payer database of several million inpatient pediatric hospitalizations per year, including complicated and uncomplicated in-hospital births. We ...
Mirhosseini Seyyed Ahmad SA Department of Neurosurgery, Isfahan, - - 2013
Klippel-Feil syndrome is a rare condition characterized by the congenital fusion of two of the seventh cervical vertebrae. A 50-year-old woman presented with a 2-year history of neck pain and ataxia for 1 year. She had not urinary incontinence. She was referred to a neurosurgeon by a neurologist because of ...
Infante Jose Rafael - - 2013
The Ochoa or urofacial syndrome is a disease characterized by non-neurogenic bladder dysfunction and unusual facial expressions when smiling or crying. It is an extremely rare disorder with over 150 cases reported in the medical literature. This condition has been determined to be inherited by an autosomal recessive pattern. We ...
Xu Wei - - 2013
Prune belly syndrome (PBS) is a rare congenital disorder characterized by deficient abdominal wall muscles, urinary tract malformation, and, in males, cryptorchidism. We present a case of PBS in China. The patient was a newborn baby boy who had wrinkled, "prune-like" abdominal skin, bilateral cryptorchidism, and urinary system malformation, complicated ...
Yewalkar Swapnil P - - 2013
A combination of hydrometrocolpos, polydactyly, and cardiac anomlies is the cardinal feature of McKusick-Kaufman syndrome. Neonatal hydrometrocolpos is rare Mullerian duct anomaly caused by obstruction of the vagina. There is an accumulation of mucus secretions proximal to the obstruction. The secretions are secondary to intrauterine and postnatal stimulation of uterine ...
Seth Jai H JH Department of Uro-Neurology, National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK. - - 2013
WHAT'S KNOWN ON THE SUBJECT? AND WHAT DOES THE STUDY ADD?: The search for a biomarker in overactive bladder syndrome (OAB) is an emerging field of interest, as bladder dysfunction is a common complaint that causes significant morbidity. A biomarker may give us insight as a diagnostic tool, and also ...
Leon-Sarmiento Fidias E - - 2013
To report a case of Pisa syndrome in a patient with idiopathic normal pressure hydrocephalus, who had never been exposed to psychotropic medications. A 26 years-old, Colombian, male patient, was referred because he had cognitive abnormalities, gait disturbances and urinary incontinence. This patient also displayed pleurothotonos. Neurofunctional evaluation of sensory ...
Stuart Helen M HM Centre for Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester, - - 2013
Urofacial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital urinary bladder dysfunction, associated with a significant risk of kidney failure, and an abnormal facial expression upon smiling, laughing, and crying. We report that a subset of UFS-affected individuals have biallelic mutations in LRIG2, encoding leucine-rich repeats ...
Wang Gang - - 2013
BACKGROUND: MicroRNAs are a group of non-coding RNA molecules that play important roles in the pathogenesis of various kidney diseases. We investigate the urinary sediment miRNA levels of adult patients with nephrotic syndrome. METHODS: We study 20 patients with diabetic glomerulosclerosis (DGS), 21 with minimal change nephropathy (MCN) or focal ...
Cotovio Patricia - - 2013
Hypokalaemia is a common clinical disorder, the cause of which can usually be determined by the patient's clinical history. Gitelman syndrome is an inherited tubulopathy that must be considered in some settings of hypokalaemia. We present the case of a 60-year-old male patient referred to our nephrology department for persistent ...
Adam Ahmed - - 2013
The bladder hamartoma is an extremely rare entity. We report on its presence in a 5-year-old boy with Goldenhar syndrome. Most probably, this is the first report of a bladder hamartoma presenting with obstruction of the bladder outlet resulting in urinary retention. The obstructive lesion was resected endoscopically. This proved ...
Hiradfar Mehran - - 2013
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a multisystemic disorder in which impaired intestinal motor activity causes recurrent symptoms of intestinal obstruction in the absence of mechanical occlusion, associated with bladder distention without distal obstruction of the urinary tract. MMIHS and prune belly syndrome may overlap in most of the ...
Christodoulidou Michelle - - 2013
We describe a very rare complication of migration of Artificial Urinary Sphincter pump device, following an elective implantation in a male patient with significant stress incontinence secondary to cauda equina syndrome. Looking through existing literature there has not been a similar complication reported. Usual complications reported include erosion, infection and ...
Aljabari Salim - - 2013
Mutation in the cytokine receptor-like factor 1 and the cardiotrophin-like cytokine (CRLF1 or CLCF1 genes) phenotypically presents as cold induced sweating syndrome (CISS), which is a rare autosomal recessive disorder. The syndrome is characterized by paradoxical sweating in cold weather, dysmorphic facial features, musculoskeletal deformities, difficulty in feeding, and unexplained ...
Vyas Vishal - - 2013
Children born with the rare congenital condition Freeman-Sheldon syndrome (FSS) have a characteristic facial appearance: microstomia, a long philtrum, 'H-shaped' chin abnormality and 'pinched lips' in addition to extra-facial features such as kyphoscoliosis and hand deformities. Such children often have problems with oral continence and difficulties with speech leading to ...
Al Montasir Ahmed A Family Medicine Diploma, University of Science and Technology, Chittagong, Family Physician, Sofia Ismail Memorial Medical Centre, Bogra, - - 2013
Purple urine bag syndrome (PUBS) is rare disease entity, occurs predominantly in constipated women, chronically catheterized and associated with bacterial urinary infections that produce sulphatase/phosphatase. The etiology is due to indigo (blue) and indirubin (red) or to their mixture that becomes purple. We present a case report of this rare ...
Patel Ramnik - - 2012
We present a case of iatrogenic neonatal urinary ascites following antenatal amnioreduction in one of the monochorionic diamniotic recipient twin 2 of twin-to-twin transfusion syndrome (TTTS). He had ileal perforation following postnatal abdominal paracentesis. The patient had an uneventful recovery following exploratory laparotomy, resection of perforated segment of ileum with ...
Westland Rik - - 2012
Bartter syndrome encompasses a variety of inheritable renal tubular transport disorders characterized by hypokalemia and hypochloremic metabolic alkalosis. Bartter syndrome Type III is caused by genetic alterations in the chloride channel kidney B (CLCNKB) gene and often presents in the first 2 years of life, known as classic Bartter syndrome. ...
Rajagopal Sangeerthana - - 2012
Most patients with Tourette syndrome report characteristic sensory experiences (premonitory urges) associated with the expression of tic symptoms. Despite the central role of these experiences to the clinical phenomenology of Tourette syndrome, little is known about their underlying brain processes. In the present article we present the results of a ...
Hayashi Toshiaki - - 2012
Object After untethering of spinal dysraphism, some patients present with neurological deterioration, defined as retethered cord syndrome. It is known that surgical untethering is an option for improving the symptoms of retethered cord syndrome. Previous reports have shown that postoperative improvement in retethered cord syndrome was noted in the majority ...
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