Complete duplication of collecting system in a horseshoe kidney presenting with recurrent urinary tract infections: report of an exceedingly rare congenital anomaly and review of literature.
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ABSTRACT:
SUBMITTER: Mirzazadeh M
PROVIDER: S-EPMC3201630 | biostudies-other | 2011
REPOSITORIES: biostudies-other
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Project description:We present a 62-year-old woman who developed recurrent urinary tract infections in her early fifties and, after an evaluation by an infectious disease physician, was referred for a neurological consultation. Her history and neurological examination were consistent with spastic paraparesis and there was significant family history of a variety of neurological diagnoses suggesting a genetic disorder. Whole exome genetic testing revealed a novel change, a c.508 C > T variant in the SPAST gene. Our genetic and protein modeling analysis suggest that this is a disease-producing mutation confirming the diagnosis of hereditary spastic paraplegia type 4 (SPG4). This patient expands the spectrum of mutations that can cause this disorder and demonstrate the importance of recognizing the role of neurological disorders in causing neurogenic bladder and recurrent urinary tract infections.
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Project description:Persistent Thebesian veins with the appearance of multiple coronary artery microfistulas are a rare finding and little is known about their physiologic and clinical features. In addition, few reports have demonstrated the perfusion status of patients with Thebesian veins. We report a 75-year-old woman referred for non-ST-elevation myocardial infarction due to prominent Thebesian veins who displayed a perfusion defect in cardiac magnetic resonance imaging. <Learning objective: This case emphasizes that non-obstructive coronary arterial anomaly can lead to myocardial ischemia with angina symptoms and cardiac enzyme rise. Moreover, it provided the typical angiographic appearance of Thebesian vein network and image of myocardial perfusion defect induced by coronary steal.>.
| S-EPMC7125364 | biostudies-literature
Project description:IntroductionCongenital anomalies of the kidney and urinary tract (CAKUT) are the most common kidney diseases in childhood. Alterations in genes governing nephrogenesis may cause CAKUT, and in some cases may contribute to development of urinary tract (UT) tumors later in life. We aimed to assess the association between CAKUT and UT cancer in adulthood.MethodsWe conducted a population-based historical cohort study encompassing 1,510,042 recruits to the Israeli army between 1967 and 1997. CAKUT exposure was determined by army medical coding of CAKUT in childhood. Incidence of UT cancer (kidney, ureter, or bladder) was available through record linkage with the Israeli Cancer Registry. Recruits were followed from the prerecruitment assessment until cancer diagnosis, death, or study termination, in 2012. Cox proportional hazards models were constructed to estimate the hazard ratios (HRs) for UT cancer in participants with vs. without CAKUT.ResultsDuring a mean follow-up of 30.4 years, 2959 participants (2573 men and 386 women) developed UT cancer. Men with CAKUT exhibited an increased risk of UT cancer compared with men without CAKUT, yielding an adjusted HR of 1.98 (95% confidence interval [CI] 1.03-3.82). Among women CAKUT was associated with a HR of 5.88 (95% CI 2.19-15.76). Notably, upon stratification according to age of cancer diagnosis, the association between CAKUT and UT cancer was statistically significant only before 45 years of age in women and only after 45 years of age in men.ConclusionCAKUT is associated with a significantly increased risk of UT cancer, although the incidence and absolute risk remained quite low.
| S-EPMC8071628 | biostudies-literature
Project description:Hypocalcemia due to hypoparathyroidism may manifest as serious neurologic symptoms such as seizures, movement disorders, or raised intracranial pressure. Several patients were observed to have these dangerous neurologic complications even without subtle signs of hypocalcemia like tetany, chvostek's sign or carpopedal spasms. We present a case of recurrent hypocalcemic seizures due to congenital hypoparathyroidism.
| S-EPMC3361787 | biostudies-other
Project description:PurposeThe etiology of postmenopausal recurrent urinary tract infection (UTI) is not completely known, but the urinary microbiome is thought to be implicated. We compared the urinary microbiome in menopausal women with recurrent UTIs to age-matched controls, both in the absence of acute infection.Materials and methodsThis is a cross-sectional analysis of baseline data from 64 women enrolled in a longitudinal cohort study. All women were using topically applied vaginal estrogen. Women >55 years of age from the following groups were enrolled: 1) recurrent UTIs on daily antibiotic prophylaxis, 2) recurrent UTIs not on antibiotic prophylaxis and 3) age-matched controls without recurrent UTIs. Catheterized urine samples were collected at least 4 weeks after last treatment for UTI and at least 6 weeks after initiation of vaginal estrogen. Samples were evaluated using expanded quantitative urine culture (EQUC) and 16S rRNA gene sequencing.ResultsWith EQUC, there were no significant differences in median numbers of microbial species isolated among groups (p=0.96), even when considering Lactobacilli (p=0.72). However, there were trends toward different Lactobacillus species between groups. With 16S rRNA sequencing, the majority of urine samples contained Lactobacillaceae, with nonsignificant trends in relative abundance among groups. Using a Bayesian analysis, we identified significant differences in anaerobic taxa associated with phenotypic groups. Most of these differences centered on Bacteroidales and the family Prevotellaceae, although differences were also noted in Actinobacteria and certain genera of Clostridiales.ConclusionsAssociations between anaerobes within the urinary microbiome and postmenopausal recurrent UTI warrants further investigation.
| S-EPMC8497440 | biostudies-literature
Project description:There are many causes of recurrent urinary tract infections (rUTI) which are amenable to surgical management. This usually follows a lengthy trial of conservative management. Aetiological classification of rUTI requiring surgical management may be divided into congenital or acquired. Predisposing factors are classified into two groups; those providing a source for organisms, or by maintaining favourable conditions for the proliferation of organisms. Sources of infections include calculi, fistulae or abscesses. Conditions which predispose to bacterial proliferation include malignancies, foreign bodies, high post void residuals, and neuropathic bladders. Removal of identified sources, treating the obstruction, and improving urinary drainage, are all goals of surgical management. Surgical options for rUTI management can range from minimally invasive procedures such as endoscopic or percutaneous, through to more invasive requiring laparoscopic or an open approach. Surgery remains a very important and viable solution.
| S-EPMC5522803 | biostudies-other
Project description:INTRODUCTION:Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disease characterized by low adrenocorticotropic hormone (ACTH) and cortisol levels. To date, recurrent pulmonary infections in infancy have not been reported as an accompanying symptom of CIAD. CASE PRESENTATION:A 7-year-old boy was hospitalized nine times for recurrent lower respiratory tract infections. The results of all tests for the possible causes of wheezing were within the normal limits. His ACTH and cortisol levels were persistently low. All other pituitary hormone levels, and adrenal ultrasound and pituitary magnetic resonance imaging results, were normal. Molecular analyses confirmed the diagnosis of CIAD by identifying compound heterozygosity for two mutations in the TBX19 gene. The first was a novel frameshift c.665delG variant in exon 4 of the TBX19 gene, leading to premature termination that was predicted to result in a non-functional truncated protein. The second was a nonsense C-to-T transition in exon 6 of the TBX19 gene, resulting in an arg286-to-ter mutation (dbSNP: rs74315376). Both parents were heterozygous for one of the mutations. CONCLUSION:Here, we presented a new mutation in the TBX19 gene in a patient with CIAD who presented with recurrent respiratory tract infections. This expands the mutation spectrum in this disorder. To conclude, adrenal insufficiency should be considered in patients with unexplained recurrent infections to prevent a delay in diagnosis.
| S-EPMC5394421 | biostudies-literature
Project description:Purpose of reviewOur goal was to summarize recent evidence regarding recurrent urinary tract infections and asymptomatic bacteriuria in different adult populations.Recent findingsSeveral research groups are focused on the description of resident bacterial flora in the bladder and urinary dysbiosis in the microbiome era. Even the definitions might change in light of these discoveries. However, the role of urinary microbiome and bacterial interference has still to be determined.SummarySystematic treatment of asymptomatic bacteriuria is not recommended and even classic indications such as asymptomatic bacteriuria in pregnant women are controversial. In fact, its treatment is associated with a higher probability of symptomatic UTI and a higher prevalence of antibiotic-resistant bacteria. Improving the diagnosis of asymptomatic bacteriuria and optimizing the management of recurrent urinary tract infections, especially through non-antibiotics measures, are needed in order to minimise antimicrobial resistance.
| S-EPMC8634747 | biostudies-literature
Project description:Recurrent urinary tract infection (rUTI) poses a major health issue, especially among postmenopausal women. We report complete genome sequences of three Klebsiella quasipneumoniae strains isolated from the urine of postmenopausal women with rUTI. K. quasipneumoniae is a recently identified Klebsiella species with clinical and virulence characteristics distinct from those of K. pneumoniae.
| S-EPMC7975875 | biostudies-literature
Project description:One in three women will experience a clinically significant urinary tract infection (UTI) by age twenty-four and almost half will have at least one in their lifetime. Recurrent UTIs (rUTIs) are defined as having greater than two infections in a 6-month period, or three infections over twelve months, with complete resolution for at least two weeks. These may be due to relapse from incomplete treatment (persistence) or re-infection (new source). It may be difficult to distinguish between the two, where the same organism is cultured. There are several risk factors for rUTIs including an impairment of the body's immune system and virulence factors. Reversible or treatable causes are sought and excluded in the patient's initial review. Patient's with rUTI are often complex and difficult to manage. The long-term management options in women are multimodal and should focus on prevention of relapse and recurrence. Behavioural factors include adequate hydration, care with sexual hygiene, reducing one's body mass index (BMI) and post-void residual (PVR) volume. There are several non-antimicrobial options for rUTIs which have become a multi-billion-dollar business. Unfortunately, there are numerous studies which fail to show any major benefit or having conflicting data. Vaccines are currently being explored as a prevention strategy, delivered through injection, intra-nasal sprays, or vaginal suppositories, which are made from combinations of heat killed uro-pathogenic strains. There are no widely available vaccines at present due to limited clinical success. It is well established that appropriate antibiotic therapy results in higher rates of symptom relief and bacterial eradication in women with uncomplicated cystitis. There are several options for antimicrobial use which have been shown to be highly effective in reducing the risk of rUTI in women. The pain and discomfort of the UTI must be balanced with the cost and risk of developing resistance when using antimicrobials. Continuous prophylaxis, pre- and post-coital voiding, and self-starting are the three commonly accepted options for prophylaxis. The choice between these will depend upon patient preference, cultures and previous pattern of infection. Intra-vesical instillation of hyaluronic acid and chondroitin sulphate have been used for glycosaminoglycan (GAG) layer replenishment for many indications, including interstitial cystitis, overactive bladder syndrome, radiation cystitis and prevention of rUTI. At present, intra-vesical therapies are reserved for only those with the most unresponsive rUTIs. The principles of treating rUTI are to break the cycle and to treat any reversible causes. With our ever-expanding research knowledge, there are now many useful products that may be used for the successful treatment of rUTI. A management plan including a combination of a non-antimicrobial and selective antimicrobial regime for a minimum of six months should be considered. It is a prudent clinician that clearly defines this management plan, with reassurance of a finite period of therapy.
| S-EPMC5522788 | biostudies-other