Search results for " Neurogenic"

showing 10 items of 29 documents

A female with X‐linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature

2020

There are two forms of diabetes insipidus, central (neurohypophyseal), and nephrogenic, caused by pathogenic variants in the AVP gene and the AVPR2 or AQP2 genes, respectively. We report on a four-generation family, seven individuals had central diabetes insipidus (CDI) and the female index patient seen from age 16 to 26 years had (mild) nephrogenic diabetes insipidus. In her father with CDI, a known pathogenic heterozygous AVP variant c.232_234del p.(Glu78del) was identified, confirming the diagnosis of CDI in him and the other affected family members. In the proband, molecular analysis disclosed a novel heterozygous AVPR2 gene variant, c.962A > T p.(Asn321Ile) and an extremely skewed X-in…

AdultMaleProbandReceptors Vasopressinmedicine.medical_specialtyAdolescentVasopressinsMutation Missense610 MedizinDiabetes Insipidus NephrogenicYoung AdultGenes X-LinkedX Chromosome Inactivation610 Medical sciencesInternal medicineArginine vasopressin receptor 2Exome SequencingDiabetes MellitusGeneticsmedicineHumansMissense mutationProtein PrecursorsGenetics (clinical)Exome sequencingNeurophysinsAquaporin 2business.industryHeterozygote advantagemedicine.diseaseNephrogenic diabetes insipidusPedigreeDiabetes Insipidus NeurogenicEndocrinologyAquaporin 2Diabetes insipidusFemalebusinessAmerican Journal of Medical Genetics Part A
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Chronic sacral neuromodulation for treatment of neurogenic bladder dysfunction: long-term results with unilateral implants

2001

Abstract Objectives. To investigate the therapeutic value of sacral neuromodulation in patients with neurogenic disorders in whom conservative treatment options were unsuccessful. Neurogenic disorders may result in various forms of lower urinary tract dysfunction. Methods. Twenty-seven patients (19 women, 8 men) aged 18 to 63 years (mean 44.9 years) were subjected to percutaneous test stimulation of the sacral spinal nerves. Their urologic symptoms consisted of bladder storage failure (n = 15) due to detrusor hyperreflexia and/or bladder hypersensitivity, failure to empty due to detrusor areflexia (n = 11), and combined bladder hypersensitivity and detrusor areflexia (n = 1). Twelve patient…

AdultMaleSacrummedicine.medical_specialtyPercutaneousAdolescentUrologyUrinary systemElectric Stimulation TherapyStimulationNeurological disordermedicineHumansUrinary Bladder NeurogenicNeurogenic bladder dysfunctionbusiness.industryLong term resultsMiddle AgedUrination Disordersmusculoskeletal systemmedicine.diseaseElectrodes ImplantedSurgerySacral nerve stimulationAnesthesiaFemaleImplantbusinessUrology
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URINARY DIVERSION AND ORTHOTOPIC BLADDER SUBSTITUTION IN CHILDREN AND YOUNG ADULTS WITH NEUROGENIC BLADDER: A SAFE OPTION FOR TREATMENT?

2000

Combined pharmacotherapy, clean intermittent catheterization and infection prophylaxis is currently the gold standard of treatment for neurogenic bladder. However, as the adolescent gains independence from parental supervision, the intervals of clean intermittent catheterization compliance with medical treatment and regularity of followup examinations may decrease, and neurological and/or orthopedic status may change. This situation sometimes leads to failure of conservative treatment, resulting in incontinence and/or deterioration of the upper urinary tract. A multidisciplinary team was established at our institution 30 years ago to assess all aspects of care for patients with neurogenic b…

AdultMalemedicine.medical_specialtyAdolescentUrologymedicine.medical_treatmentUrinary incontinenceUrinary DiversionPostoperative ComplicationsPharmacotherapyHumansMedicineUrinary Bladder NeurogenicYoung adultChildIntensive care medicineRetrospective StudiesUpper urinary tractPatient Care TeamUrinary bladderbusiness.industryUrinary Reservoirs ContinentUrinary diversionGold standardInfantClean Intermittent CatheterizationSurgerymedicine.anatomical_structureEvaluation Studies as TopicChild PreschoolFemalemedicine.symptombusinessFollow-Up StudiesJournal of Urology
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Long-term follow-up of submucosal tunnel and serosa-lined extramural tunnel ureter implantation in ileocaecal continent cutaneous urinary diversion (…

2007

Authors from Mainz, Germany present the long-term follow-up of submucosal tunnel and serosa-lined extramural tunnel ureter implantation in the ileocaecal continent cutaneous urinary diversion first described in that department, called the Mainz-Pouch I. OBJECTIVE To assess upper urinary tract complications and renal function in patients with a submucosal tunnel and serosa-lined extramural tunnel ureter implantation during the long-term follow-up of ileocaecal continent cutaneous urinary diversion (Mainz pouch I). PATIENTS AND METHODS In all, 458 patients who had diversion with the ileocaecal pouch were analysed in a retrospective follow-up study. Uretero-intestinal implantation was done usi…

AdultMalemedicine.medical_specialtyAdolescentUrologymedicine.medical_treatmentUrologyRenal functionUrinary DiversionAnastomosisUreterSubmucosamedicineHumansUrinary Bladder NeurogenicChildAgedRetrospective StudiesUpper urinary tractUrinary bladderbusiness.industryUrinary Reservoirs ContinentUrinary diversionUrinary Bladder DiseasesMiddle AgedSurgerymedicine.anatomical_structureChild PreschoolFemalePouchbusinessFollow-Up StudiesBJU International
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Pyelotransverse pyelocolostomy: an alternative method for high urinary diversion in patients with extended bilateral ureter damage.

1991

After previous radiation due to pelvic malignoma or after multiple operations, the ileal conduit as well as sigmoid conduit are associated with an increased rate of complications. In these patients, the middle and distal ureter often cannot be considered for reimplantation due to fibrosis. High anastomosis to a bowel segment which is undamaged proves favorable. The transverse colon, conveniently situated in the cranial abdomen, is close enough to the kidneys for such a high anastomosis and is mostly spared from irradiation. In cases where severely damaged ureters forbid connection to a normal transverse conduit, we performed a pyelotransverse pyelocolostomy with high anastomosis of the bowe…

AdultMalemedicine.medical_specialtyColonGenital Neoplasms FemaleUrologymedicine.medical_treatmentUrinary systemAnastomosisUrinary DiversionSepsisUreterPostoperative ComplicationsColostomymedicineHumansKidney PelvisDerivationUrinary Bladder NeurogenicRadiation Injuriesbusiness.industryUrinary diversionTransverse colonMiddle Agedmedicine.diseaseSurgeryRadiographyStenosismedicine.anatomical_structureFemaleUreterbusinessFollow-Up StudiesEuropean urology
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Lack of genetic association of neutral endopeptidase (NEP) with complex regional pain syndrome (CRPS)

2010

Complex regional pain syndrome (CRPS) is a condition that is characterized by severe pain and exaggerated neurogenic inflammation, which may develop after injury or surgery. Neurogenic inflammation is mediated by neuropeptides, such as calcitonin gene-related peptide (CGRP) and substance P (SP) that are released from nociceptors. Genetic factors may play a role in CRPS as was suggested by the occurrence of familial cases and several genetic association studies investigating mainly the human leukocyte antigen (HLA) system. Here we investigated the role of neutral endopeptidase (NEP), a key enzyme in neuropeptide catabolism. NEP dysfunction resulting in reduced inactivation of neuropeptides m…

AdultMalemedicine.medical_specialtyLinkage disequilibrium5' Flanking RegionSubstance PHuman leukocyte antigenBiologyCalcitonin gene-related peptideLinkage Disequilibriumchemistry.chemical_compoundInternal medicinemedicineHumansGenetic Predisposition to DiseaseDinucleotide RepeatsPromoter Regions GeneticNeprilysinGenetic Association StudiesGenetic associationNeurogenic inflammationPolymorphism GeneticGeneral NeurosciencefungiMiddle Agedmedicine.diseaseCRPS Pain NEP Association reflex sympathetic dystrophy syndrome type-i facilitated neurogenic inflammation nociceptive abnormalities alzheimers-disease neprilysin gene rat model enkephalinase prevalence dystoniaEndocrinologyComplex regional pain syndromechemistryCase-Control StudiesFemaleNeprilysinComplex Regional Pain Syndromes
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Ice water test in multiple sclerosis: A pilot trial.

2018

OBJECTIVES To investigate the significance of the ice water test in patients with multiple sclerosis and to evaluate a novel ice water test nomogram in a large patient cohort. METHODS A total of 201 ice water tests of patients with multiple sclerosis were retrospectively evaluated. Incontinence episodes in 24 h and sex were correlated with the ice water test. Furthermore, an ice water test nomogram was developed in order to categorize the detrusor overactivity in severity degrees. Descriptive statistics were carried out for population characteristics. Correlations of categorical variables were calculated by the χ2 -test. The independent t-test was carried out for correlations of continuous …

AdultMalemedicine.medical_specialtyMultiple SclerosisUrologyPopulation030232 urology & nephrologyUrologyPilot Projectsurologic and male genital diseases03 medical and health sciences0302 clinical medicinemedicineHumansUrinary Bladder NeurogeniceducationFalse Negative ReactionsNeurogenic bladder dysfunctionRetrospective Studieseducation.field_of_study030219 obstetrics & reproductive medicinemedicine.diagnostic_testbusiness.industryUrinary Bladder OveractiveMultiple sclerosisIceCystometryNomogramMiddle Agedmedicine.diseaseTest (assessment)NomogramsUrodynamicsOveractive bladderCohortLinear ModelsFemalebusinesshuman activitiesInternational journal of urology : official journal of the Japanese Urological Association
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Evaluation of urodynamic studies by computer

1978

In an attempt to simplify urodynamic evaluation, the data obtained from cystometry, urethral profile and flowmetry were analysed using the ICS recommendations for standardization and terminology. All studies were compiled from check lists feasible for computation. The aim was to establish standards and "typical" changes for the normal bladder and pathological states to enable automatic readout of computed data. The results did, in fact, show "typical" changes but failed to establish standard measurements suitable for completely computed diagnoses.

AdultMalemedicine.medical_specialtyUrethral ObstructionAdolescentStandardizationManometryUrologyUrinary BladderUrodynamic studiesTerminologyUrethraHydrostatic PressuremedicineHumansMedical physicsDiagnosis Computer-AssistedUrinary Bladder NeurogenicMedical diagnosisChildAgedmedicine.diagnostic_testElectromyographybusiness.industryInfantCystometryMiddle AgedSurgeryUrinary IncontinenceChild PreschoolNormal bladderFemalebusinessUrological Research
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Influence of identification and preservation of pelvic autonomic nerves in rectal cancer surgery on bladder dysfunction after total mesorectal excisi…

2003

PURPOSE: Given the improvement in oncologic outcome after the introduction of total mesorectal excision for the treatment of rectal cancer, the objective of the present study was to determine the frequency of identification and preservation of the pelvic autonomic nerves and to identify a possible link between postoperative micturition disturbances and the extent of the radical resection. METHODS: Between March 1997 and December 2001, 150 patients with adenocarcinoma of the rectum (≤16 cm from the anal verge) underwent surgery, with sphincter preservation in 112 cases (74.7 percent). Sixty-three patients (42 percent) were classified as American Society of Anesthesiologists Stage III and two…

AdultMalemedicine.medical_specialtymedia_common.quotation_subjectUrinary systemRectumAdenocarcinomaUrinationNeurosurgical Proceduresmedicine.nerveHypogastric nervePostoperative ComplicationsSuperior hypogastric plexusMedicineHumansTrauma Nervous SystemUrinary Bladder NeurogenicColectomymedia_commonAgedUltrasonographyAged 80 and overUrinary bladderHypogastric Plexusbusiness.industryRectal NeoplasmsGastroenterologyHypogastric PlexusGeneral MedicineMiddle AgedTotal mesorectal excisionSurgerymedicine.anatomical_structureFemalebusinessDiseases of the colon and rectum
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The impact of Syme amputation in surgical treatment of patients with diabetic foot syndrome and Charcot-neuro-osteoarthropathy

2002

Charcot-neuro-osteoarthropathy with its severe destruction of bones remains a challenge for physicians and surgeons. The aim of the study was to characterise a patient population treated in a specialised foot care centre who underwent surgical treatment for their diabetic foot syndrome. Special attention was paid to patients who suffered from Charcot-neuro-osteoarthropathy and the impact of Syme amputation if amputation of the foot was inevitable. A total of 121 patients with diabetic foot syndrome and ulcerations underwent an interdisciplinary strategy for diagnostic and therapeutic procedures including MRI and surgical interventions. If peripheral arterial vessel disease was present, reva…

AdultMalemedicine.medical_specialtymedicine.medical_treatmentPerforation (oil well)PopulationAmputation SurgicalBlood Vessel Prosthesis ImplantationSpinal osteoarthropathymedicine.arterymedicineHumansOrthopedics and Sports MedicineeducationAgedAged 80 and overeducation.field_of_studybusiness.industryOsteomyelitisGeneral MedicineMiddle Agedmedicine.diseaseDiabetic footDiabetic FootSurgeryPosterior tibial arteryTreatment OutcomeAmputationOrthopedic surgeryFemaleSurgeryArthropathy NeurogenicbusinessArchives of Orthopaedic and Trauma Surgery
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