RESUMEN
INTRODUCTION: Aging is associated with a combination of several lower urinary tract (LUT) signs and symptoms, including residual urine, overactive bladder and nocturia. One of the mechanisms of this LUT dysfunction that has not been discussed in dept so far is the role of dopamine (DA). METHODS: In this narrative review, we explore the dopaminergic hypothesis in the development of this combination of LUT signs and symptoms in older adults. RESULTS: DA is one of the neurotransmitters whose regulation and production is disrupted in aging. In synucleinopathies, altered DAergic activity is associated with the occurrence of LUTS and sleep disorders. Projections of DAergic neurons are involved in the regulation of sleep, diuresis, and bladder activity. The low dopamine hypothesis could explain the genesis of a set of LUT signs and symptoms commonly seen in this population, including elevated residual urine, Overactive bladder syndrome and Nocturia (discussed as the RON syndrome). This presentation is however also common in older patients without synucleinopathies or neurological disorders and therefore we hypothesise that altered DAergic activity because of pathological aging, and selective destruction of DAergic neurons, could underpin the presentation of this triad of LUT dysfunction in the older population. CONCLUSION: The concept of RON syndrome helps to better understand this common phenotypic presentation in clinical practice, and therefore serves as a useful platform to diagnose and treat LUTS in older adults. Besides recognizing the synucleinopathy "red flag" symptoms, this set of multi-causal LUT signs and symptoms highlights the inevitable need for combination therapy, a challenge in older people with their comorbidities and concomitant medications.
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Nocturia , Sinucleinopatías , Vejiga Urinaria Hiperactiva , Retención Urinaria , Humanos , Anciano , Vejiga Urinaria Hiperactiva/tratamiento farmacológico , Nocturia/etiología , Dopamina/uso terapéutico , Sinucleinopatías/complicaciones , Vejiga Urinaria , Retención Urinaria/complicacionesRESUMEN
BACKGROUND AND PURPOSE: Bowel symptoms are well documented in mitochondrial disease. However, data concerning other pelvic organs is limited. A large case-control study has therefore been undertaken to determine the presence of lower urinary tract symptoms (LUTS) and sexual dysfunction in adults with genetically confirmed mitochondrial disease. METHODS: Adults with genetically confirmed mitochondrial disease and control subjects were recruited from a specialist mitochondrial clinic. The presence and severity of LUTS and their impact on quality of life, in addition to sexual dysfunction and bowel symptoms, were captured using four validated questionnaires. Subgroup analysis was undertaken in patients harbouring the m.3243A>G MT-TL1 mitochondrial DNA mutation. A subset of patients underwent urodynamic studies to further characterize their LUTS. RESULTS: Data from 58 patients and 19 controls (gender and age matched) were collected. Adults with mitochondrial disease had significantly more overactive bladder (81.5% vs. 56.3%, P = 0.039) and low stream (34.5% vs. 5.3%, P = 0.013) urinary symptoms than controls. Urodynamic studies in 10 patients confirmed that bladder storage symptoms predominate. Despite high rates of LUTS, none of the patient group was receiving treatment. Female patients and those harbouring the m.3243A>G MT-TL1 mutation experienced significantly more sexual dysfunction than controls (53.1% vs. 11.1%, P = 0.026, and 66.7% vs. 26.3%, P = 0.011, respectively). CONCLUSIONS: Lower urinary tract symptoms are common but undertreated in adult mitochondrial disease, and female patients and those harbouring the m.3243A>G MT-TL1 mutation experience sexual dysfunction. Given their impact on quality of life, screening for and treating LUTS and sexual dysfunction in adults with mitochondrial disease are strongly recommended.
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Síntomas del Sistema Urinario Inferior/etiología , Enfermedades Mitocondriales/complicaciones , Calidad de Vida/psicología , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Síntomas del Sistema Urinario Inferior/psicología , Masculino , Persona de Mediana Edad , Enfermedades Mitocondriales/psicología , Encuestas y CuestionariosRESUMEN
BACKGROUND: Sexual dysfunction (SD) is common in multiple sclerosis (MS), however, under-reported. OBJECTIVE: The aim of this study was to identify barriers faced by patients with MS and healthcare professionals (HCPs) in discussing SD. METHODS: This was a two-part prospective study carried out at a tertiary care centre. Patients with MS were surveyed using a 29-item questionnaire and SD was assessed using the MSISQ and ASEX questionnaires; depression screened with PHQ-2. HCPs were surveyed using a 23-item questionnaire. RESULTS: Seventy four patients (mean age 42.4 ± 10.7, 54 females) and 98 HCPs (mean age 45.8 ± 8.9, 90 females) participated. SD was significant, with primary (36.4%), secondary (27%) and tertiary (29.8%) contributory factors. Commonest barriers reported by patients were dominance of neurological symptoms (N = 30, 40.5%), presence of family or friends (N = 28, 37.8%), and not being asked (N = 25, 33.8%), while HCPs reported presence of family or friends (N = 34, 34.7%), lack of knowledge about SD (N = 30, 30.6%), and inadequate time during the consultation (N = 27, 27.6%). CONCLUSIONS: Barriers to discussing SD are similar between patients and HCPs. The most common barriers are addressable through modifications in the clinic environment, raising awareness and providing training opportunities.
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Accesibilidad a los Servicios de Salud , Esclerosis Múltiple/complicaciones , Esclerosis Múltiple/psicología , Disfunciones Sexuales Fisiológicas/etiología , Disfunciones Sexuales Fisiológicas/psicología , Disfunciones Sexuales Fisiológicas/terapia , Adulto , Estudios Transversales , Familia , Femenino , Amigos , Comunicación en Salud , Personal de Salud/psicología , Humanos , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/terapia , Estudios Prospectivos , Adulto JovenRESUMEN
The term functional urologic disorders covers a wide range of conditions related broadly to altered function rather than structure of the lower urinary tract, mainly of impaired urine voiding or storage. Confusingly, for a neurologic readership, these disorders of function may often be due to a urologic, gynecologic, or neurologic cause. However, there is a subset of functional urologic disorders where the cause remains uncertain and, in this chapter, we describe the clinical features of these disorders in turn: psychogenic urinary retention; Fowler's syndrome; paruresis (shy-bladder syndrome); dysfunctional voiding; idiopathic overactive bladder, and interstitial cystitis/bladder pain syndrome. Some of these overlap in terms of symptoms, but have become historically separated. Psychogenic urinary retention in particular has now largely been abandoned as a concept, in part because of the finding of specific urethral electromyogram findings in patients with this symptom now described as having Fowler's syndrome, and their successful treatment with sacral neurostimulation. In this chapter we review the poorly researched interface between these "idiopathic" functional urologic disorders and other functional disorders (e.g., irritable-bowel syndrome, fibromyalgia) as well as specifically functional neurologic disorders. We conclude that there may be a relationship and overlap between them and that this requires further research, especially in those idiopathic functional urologic disorders which involve disorders of the urethral sphincter (i.e., voluntary muscle).
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Trastornos Psicofisiológicos , Enfermedades Urológicas/fisiopatología , Enfermedades Urológicas/psicología , HumanosRESUMEN
BACKGROUND: Botulinum toxin-A (BoNT/A) is now established second-line management for refractory overactive bladder (OAB) and recognised in many incontinence guidelines and pathways. For those with neurogenic detrusor overactivity secondary to spinal cord injury or multiple sclerosis, the toxin is currently licensed in certain parts of the world, including the UK. It is an effective treatment in those in whom antimuscarinics and conservative measures have failed who have symptoms of OAB and or detrusor overactivity (DO). METHODS: Treatment can be given in an outpatient setting and can be administered under local anaesthesia. Its efficacy lasts for between six and 12 months. RESULTS: It has an acceptable safety profile with the biggest risk being urinary tract infection and difficulty emptying the bladder, necessitating clean intermittent self-catheterisation (CISC). Medium-term follow-up suggests repeated injections are also safe and efficacious. CONCLUSIONS: The mechanism of action of the toxin is more complicated than originally thought, and it seems likely that it affects motor and sensory nerves of the bladder. In the last 10 years much of the progress of this treatment from early experimental trials to mainstream clinical use, and a better understanding of how it works in the bladder, are as a result of research conducted in the UK. This review summarises the significant and substantial evidence for BoNT/A to treat refractory OAB from UK centres.
RESUMEN
Myotonic dystrophy is an autosomal dominant neuromuscular disorder characterised by extreme pleiotropism and variability in disease expression. A congenital form is rare and is observed in infants born to symptomatic mothers with multisystem involvement. We report a case of a neonate with congenital myotonic dystrophy born to an asymptomatic mother.
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Distrofia Miotónica/diagnóstico , Distrofia Miotónica/genética , Southern Blotting , Electromiografía , Padre , Femenino , Humanos , Recién Nacido , Recien Nacido Prematuro , Masculino , MadresRESUMEN
BACKGROUND: Outcome following Acute Disseminated Encephalomyelitis (ADEM) is variable and there are only limited studies from India. AIM: The study aims to evaluate the predictors of functional outcome in a cohort of patients with ADEM. SETTING: Tertiary-care teaching hospital. MATERIALS AND METHODS: Patients admitted with the diagnosis of ADEM from 1999 to 2004 have been included. Clinical features and radiological findings were evaluated. Functional outcome at discharge was scored using modified Rankin Scale and patients were followed up regularly. STATISTICAL ANALYSIS: Chi-Square test or Fisher's exact test, and Student's t test for comparison of categorical and continuous variables, respectively, and logistic regression for multivariate analysis. RESULTS: Sixty-one patients were evaluated (mean age 22+/-15.9 years, 1-65). Fifty-two patients had preceding febrile illness or vaccination with mean 9.1+/-12.5 days interval to first neurological symptom. Non-specific febrile illnesses were the commonest trigger. Commonest findings were motor signs (n=41), impaired consciousness (n=33), bladder symptoms (n=21), ataxia (n=15), and seizures (n=14). Between adult (mean age 30.1+/-13.1 years, 13-65, n=38), and pediatric (mean age 6.2+/-2.8 years, 1-12, n=23) patients, language disturbances were more common in the latter (P=0.047). MR imaging (n=35) demonstrated lesions mostly in frontoparietal white matter (n=23) and thalamus (n=15). Nine patients expired. Patients with poor functional outcome at discharge more often had impaired consciousness (P=0.038) and seizures (P=0.06). At follow-up (n=25), deficits included motor signs (n=15) and bladder symptoms (n=5). CONCLUSIONS: ADEM has a wide range of neurological presentations and language disturbances are more common in pediatric patients. The presence of impaired consciousness, and possibly seizures, predict poor functional outcome at hospital discharge.
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Encefalomielitis Aguda Diseminada/complicaciones , Encefalomielitis Aguda Diseminada/fisiopatología , Adolescente , Adulto , Anciano , Niño , Preescolar , Estudios de Cohortes , Trastornos de la Conciencia/etiología , Dexametasona/administración & dosificación , Electroencefalografía , Encefalomielitis Aguda Diseminada/tratamiento farmacológico , Encefalomielitis Aguda Diseminada/etiología , Femenino , Fiebre/complicaciones , Estudios de Seguimiento , Glucocorticoides/administración & dosificación , Hospitales de Enseñanza , Humanos , India/epidemiología , Lactante , Tiempo de Internación , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Prednisolona/administración & dosificación , Prednisolona/análogos & derivados , Recuperación de la Función , Convulsiones/etiología , Tomografía Computarizada por Rayos X , Resultado del Tratamiento , Adulto JovenRESUMEN
Bladder symptoms in multiple sclerosis (MS) are common and distressing but also highly amenable to treatment. A meeting of stakeholders involved in patients' continence care, including neurologists, urologists, primary care, MS nurses and nursing groups was recently convened to formulate a UK consensus for management. National Institute for Health and Clinical Excellence (NICE) criteria were used for producing recommendations based on a review of the literature and expert opinion. It was agreed that in the majority of cases, successful management could be based on a simple algorithm which includes using reagent sticks to test for urine infection and measurement of the post micturition residual urine volume. This is in contrast with published guidelines from other countries which recommend cystometry. Throughout the course of their disease, patients should be offered appropriate management options for treatment of incontinence, the mainstay of which is antimuscarinic medications, in combination, if necessary, with clean intermittent self-catheterisation. The evidence for other measures, including physiotherapy, alternative strategies aimed at improving bladder emptying, other medications and detrusor injections of botulinum toxin A was reviewed. The management of urinary tract infections as well as the bladder problems as part of severe disability were discussed and recommendations agreed.
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Esclerosis Múltiple/terapia , Vejiga Urinaria Hiperactiva/terapia , Incontinencia Urinaria/terapia , Infecciones Urinarias/terapia , Femenino , Humanos , Masculino , Esclerosis Múltiple/complicaciones , Esclerosis Múltiple/fisiopatología , Reino Unido , Vejiga Urinaria Hiperactiva/etiología , Vejiga Urinaria Hiperactiva/fisiopatología , Incontinencia Urinaria/etiología , Incontinencia Urinaria/fisiopatología , Infecciones Urinarias/etiología , Infecciones Urinarias/fisiopatología , Urodinámica/fisiologíaRESUMEN
BACKGROUND: Lower urinary tract dysfunction (LUTD) in multiple sclerosis has been well documented. However, its occurrence and outcome in acute disseminated encephalomyelitis (ADEM) has only been variably reported. OBJECTIVE: To evaluate LUTD in ADEM, correlation with other neurological deficits, and outcome. METHODS: Patients with ADEM having significant LUTD were evaluated. LUTD was evaluated by symptom analysis, ultrasonography, and urodynamics. Storage symptoms were managed using antimuscarinics and significant voiding dysfunction by catheterization. RESULTS: Of 61 patients, 20 (33%) had LUTD. Voiding dysfunction was more common and 16 patients were in urinary retention. Cystometry demonstrated detrusor overactivity in four patients and underactivity in four patients. Incontinence was reported more often in patients with frontoparietal white matter changes in MR imaging. LUTD was found to be associated with occurrence of paraparesis or tetraparesis, though did not predict functional outcome at discharge. At 3 months follow up, five patients continued to have LUTD and urgency and hesitancy were commonest symptoms. CONCLUSION: LUTD is common in ADEM, especially in patients with lower limb pyramidal involvement and its causes multifactorial. Presence of LUTD does not influence the functional outcome of patients with ADEM. Recovery may be incomplete and symptoms may persist even after recovery of other neurological deficits.
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Encefalomielitis Aguda Diseminada/complicaciones , Vejiga Urinaria Hiperactiva/diagnóstico , Vejiga Urinaria Hiperactiva/etiología , Trastornos Urinarios/diagnóstico , Trastornos Urinarios/etiología , Enfermedad Aguda , Adolescente , Encefalomielitis Aguda Diseminada/patología , Femenino , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética , Masculino , Tractos Piramidales/patología , Urodinámica , Adulto JovenRESUMEN
Bladder symptoms in multiple sclerosis (MS) are common and distressing but also highly amenable to treatment. A meeting of stakeholders involved in patients' continence care, including neurologists, urologists, primary care, MS nurses and nursing groups was recently convened to formulate a UK consensus for management. National Institute for Health and Clinical Excellence (NICE) criteria were used for producing recommendations based on a review of the literature and expert opinion. It was agreed that in the majority of cases, successful management could be based on a simple algorithm which includes using reagent sticks to test for urine infection and measurement of the post micturition residual urine volume. This is in contrast with published guidelines from other countries which recommend cystometry. Throughout the course of their disease, patients should be offered appropriate management options for treatment of incontinence, the mainstay of which is antimuscarinic medications, in combination, if necessary, with clean intermittent self-catheterisation. The evidence for other measures, including physiotherapy, alternative strategies aimed at improving bladder emptying, other medications and detrusor injections of botulinum toxin A was reviewed. The management of urinary tract infections as well as the bladder problems as part of severe disability were discussed and recommendations agreed.
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Esclerosis Múltiple/complicaciones , Enfermedades de la Vejiga Urinaria/etiología , Enfermedades de la Vejiga Urinaria/terapia , Adulto , Conferencias de Consenso como Asunto , Ingestión de Líquidos , Humanos , Persona de Mediana Edad , Esclerosis Múltiple/epidemiología , Antagonistas Muscarínicos/uso terapéutico , Reino Unido/epidemiología , Enfermedades de la Vejiga Urinaria/tratamiento farmacológico , Enfermedades de la Vejiga Urinaria/epidemiología , Enfermedades de la Vejiga Urinaria/cirugía , Enfermedades de la Vejiga Urinaria/orina , Vejiga Urinaria Hiperactiva/etiología , Vejiga Urinaria Hiperactiva/terapia , Infecciones Urinarias/complicaciones , Infecciones Urinarias/terapia , Trastornos Urinarios/etiología , Trastornos Urinarios/terapia , Urodinámica , Adulto JovenRESUMEN
Intracranial hemorrhage is a devastating complication of immune thrombocytopenic purpura (ITP). Subdural hematoma (SDH) is rare and the optimal management unsettled. We report a series of seven patients of ITP who developed isolated SDH and subsequently review the literature. Three patients had acute ITP (mean duration 2.3 months) while four had chronic ITP (mean duration 8.3 years). Mean platelet count at admission was 25 x 10(9)/L (range 16 x 10(9)/L to 30 x 10(9)/L). Mean age at which SDH occurred was 38 years. Headache and bilateral papilloedema were the commonest clinical features at presentation. Diagnosis was made by CT/MR imaging and SDH was acute in two patients and chronic in five. Precipitating factors could not be identified in any patient. Neurological parameters were closely monitored including level of consciousness, pupillary size and development of new neurological deficits. Two patients with acute SDH developed worsening neurological parameters, underwent craniotomy and hematoma evacuation, and survived. Of the two patients who expired, one was brought in an advanced stage that precluded surgery and the other developed metabolic complications due to underlying lupus nephritis. Reports of isolated SDH in ITP are infrequent. Compared to those developing intracerebral hemorrhage, SDH occurs more in patients who are older, having chronic ITP and having a higher platelet count. Medical management with close monitoring of neurological parameters is a viable treatment option in patients of ITP developing SDH.
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Hematoma Subdural/cirugía , Púrpura Trombocitopénica Idiopática/complicaciones , Adolescente , Adulto , Craneotomía/métodos , Femenino , Hematoma Subdural/complicaciones , Hematoma Subdural Agudo/complicaciones , Hematoma Subdural Agudo/cirugía , Hematoma Subdural Crónico/complicaciones , Hematoma Subdural Crónico/cirugía , Humanos , Persona de Mediana Edad , Recuento de Plaquetas , Púrpura Trombocitopénica Idiopática/sangre , Tomografía Computarizada por Rayos X/métodos , Resultado del Tratamiento , Adulto JovenRESUMEN
Behçet's disease is a multisystem inflammatory disorder of unknown etiology. We report a 12-year-old boy who presented with features of raised intracranial tension and seizures and was found to have cerebral venous sinus thrombosis on evaluation. Behçet's disease was diagnosed based on occurrence of recurrent oral and genital ulcers in the past and characteristic skin lesions subsequently. He also showed significant personality changes including multiple attempts of deliberate self-harm. Pedigree analysis revealed that six family members spanning three generations had recurrent oral ulcers and three members satisfied the criteria for Behçet's disease. Clinical features varied amongst the family members and there was suggestion of genetic anticipation. The index case was carrying HLA-B37/B7 and the mother was carrying B37/B40. Our report sheds light on the genetics of Behçet's disease. Unusual features were early age of onset, cerebral venous sinus thrombosis, significant personality changes and strong family history with phenotypic heterogeneity.
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Síndrome de Behçet/genética , Pruebas Neuropsicológicas , Trastornos de la Personalidad/genética , Trombosis del Seno Sagital/genética , Anticipación Genética , Niño , Trastorno Depresivo/diagnóstico , Trastorno Depresivo/genética , Genotipo , Antígenos HLA-B/genética , Antígeno HLA-B37 , Antígeno HLA-B40 , Antígeno HLA-B7/genética , Humanos , Angiografía por Resonancia Magnética , Masculino , Linaje , Trastornos de la Personalidad/diagnóstico , Trombosis del Seno Sagital/diagnóstico , Estadística como Asunto , Intento de Suicidio/psicologíaRESUMEN
INTRODUCTION: Congenital erythropoietic porphyria is one of the rare forms of an intriguing group of metabolic disorders known as porphyrias. Less than 200 cases have been reported in the literature. CLINICAL PRESENTATION: We report the case of a 27-year-old gentleman who had the clinical profile suggestive of porphyria, now presenting with anaemia. The type of porphyria was found to be congenital erythropoietic porphyria by biochemical assay and cause for anaemia was haemolysis, a well-known association with the erythropoietic porphyrias. TREATMENT: The management of porphyrias is essentially symptomatic. He was treated with blood transfusions and haematinics. CONCLUSION: The patient improved symptomatically and he is on regular followup. With the development of gene therapy, a specific cure for this rare type of porphyria is expected in the near future.
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Porfiria Eritropoyética , Adulto , Humanos , Masculino , Porfiria Eritropoyética/diagnóstico , Porfiria Eritropoyética/patologíaAsunto(s)
Obstrucción de las Vías Aéreas/complicaciones , Narcolepsia/etiología , Síndromes de la Apnea del Sueño/complicaciones , Humanos , Masculino , Persona de Mediana Edad , Narcolepsia/diagnóstico , Polisomnografía , Síndromes de la Apnea del Sueño/diagnóstico , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/diagnósticoRESUMEN
Essential tremor is the most common of the movement disorders, being 20 times more common than Parkinson's Disease. It is characterised by postural and kinetic tremor which maximally affects the hands. It can be assessed by physiological techniques, subjective clinical methods, objective clinical methods and handicap/disability scales. Accelerometry, spirography and handwriting assessment, volumetry and handicap/disability questionnaires are commonly used methods. Primidone and propranolol are the first-line drugs. Several second-line drugs have been identified. Surgical techniques include lesioning or stimulation of the ventral lateral thalamus. Alcohol and botulinum toxin A are found to reduce tremor amplitude as well.