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World Journal of Urology Oct 2018Bowel function can be markedly changed after a spinal cord injury (SCI). These changes, and the care associated with managing the changes, can greatly impact a person's... (Review)
Review
BACKGROUND
Bowel function can be markedly changed after a spinal cord injury (SCI). These changes, and the care associated with managing the changes, can greatly impact a person's quality of life over a lifetime.
PURPOSE
The purpose of the SIU-ICUD workgroup was to identify, assess, and summarize evidence and expert opinion-based themes and recommendations regarding bowel function and management in SCI populations.
METHODS
As part of the SIU-ICUD joint consultation of Urologic Management of the Spinal Cord Injury, a workgroup was formed and comprehensive literature search of English language manuscripts regarding bowel physiology and management plans for the SCI patient. Articles were compiled, and recommendations in the chapter are based on group discussion and follow the Oxford Centre for Evidence-based Medicine system for levels of evidence (LOEs) and grades of recommendation (GORs).
RESULTS
Neurogenic bowel symptoms are highly prevalent in the SCI population. Patients with injuries above the conus medullaris have increased bowel motility and poor anorectal sphincter relaxation. Patients with injuries below the conus are more likely to have an areflexic colon and low sphincter tone. Conservative management strategies include diet modification and anorectal stimulation. There are few evidence-based pharmacologic interventions, which improve fecal transit time. Intestinal ostomy can be an effective treatment for reducing hours spent per week on bowel management and colostomy may be easier to manage than ileostomy due to solid vs liquid stool.
CONCLUSIONS
By understanding physiology and treatment options, patients and care teams can work together to achieve goals and maximize quality of life after injury.
Topics: Adult; Conservative Treatment; Humans; Neurogenic Bowel; Quality of Life; Reflex, Abnormal; Reproducibility of Results; Spinal Cord Injuries
PubMed: 29951791
DOI: 10.1007/s00345-018-2388-2 -
The Pediatric Infectious Disease Journal Jul 2016During the past several decades, researchers have shown that the eponymous signs of meningitis have reduced sensitivity and specificity compared with when they were... (Review)
Review
During the past several decades, researchers have shown that the eponymous signs of meningitis have reduced sensitivity and specificity compared with when they were originally described. This may be because of the changing epidemiology of meningitis and its treatment or it may be because of variations in performance of the maneuvers. For example, in the original descriptions, the Kernig sign (resistance of leg extension) is best elicited with the patient sitting and the Brudzinski nape of the neck sign involves holding down the patient's chest as the neck is flexed. These and other lesser-known signs of meningitis by Amoss, Bikeles and Edelmann all relate to the mechanics of stretching inflamed meninges, and this review will allow the clinician to understand how the history related to these maneuvers is still germane to clinical practice today.
Topics: Diagnosis, Differential; History, 19th Century; History, 20th Century; History, 21st Century; Humans; Meningitis; Neurologic Examination; Physical Examination; Reflex, Abnormal; Sensitivity and Specificity
PubMed: 27031257
DOI: 10.1097/INF.0000000000001152 -
Neurology. Clinical Practice Feb 2022To determine whether primitive reflexes serve as an indicator of dementia in adults with Down syndrome (DS), we collected neurologic examination data, cognitive and...
BACKGROUND AND OBJECTIVES
To determine whether primitive reflexes serve as an indicator of dementia in adults with Down syndrome (DS), we collected neurologic examination data, cognitive and behavioral assessments, and clinical consensus diagnoses of dementia from 92 adults with DS.
METHODS
In a cross-sectional, observational study of a regional cohort, χ and Fisher exact tests examined individual reflexes across the diagnostic group (no, possible, or probable dementia). In 64 participants with all 8 reflexes assessed, the number of primitive reflexes was assessed as a predictor of diagnosis using age-controlled multinomial logistic regression and of performance on clinical assessments (Brief Praxis Test [BPT], Severe Impairment Battery [SIB], and the Dementia Questionnaire for People with Learning Disabilities [DLD]) using age-adjusted linear regression.
RESULTS
Primitive palmomental, grasp, snout, and suck reflexes were more frequent in individuals with probable dementia, but all participants showed at least 1 primitive reflex. Multiple primitive reflexes in combination served as a better indicator of dementia, with each additional abnormal reflex tripling probability of the probable dementia group membership controlling for age. Abnormal reflex count was not associated with direct assessment of cognition and praxis (SIB and BPT) but associated with informant ratings of cognitive and behavioral functioning (DLD).
DISCUSSION
The presence of multiple reflexes serves as an indicator of dementia status in DS as a supplement to direct assessment of cognition and praxis. The reflex examination may serve as a tool in the multimethod evaluation for dementia in DS, as it appears unaffected by intellectual disability and language mastery.
PubMed: 36157622
DOI: 10.1212/CPJ.0000000000001135 -
Archives of Disease in Childhood.... Oct 2021A healthy woman presented with an antepartum haemorrhage at 35/40 during a low-risk pregnancy with normal antenatal bloods and anomaly scan at 20/40 gestation. Following...
A healthy woman presented with an antepartum haemorrhage at 35/40 during a low-risk pregnancy with normal antenatal bloods and anomaly scan at 20/40 gestation. Following an abnormal ultrasound (USS), the baby was delivered by emergency C-section. A male infant was born in good condition but admitted to the neonatal unit for monitoring. Examination revealed global hypotonia, a weak uncoordinated suck and absent Moro reflex. He had widened sagittal sutures and a large posterior fontanelle. The remainder of the examination was unremarkable. Abnormal bloods are shown in table 1 .
Topics: Cesarean Section; Female; Humans; Magnetic Resonance Imaging; Male; Pregnancy; Pregnancy Trimester, Third; Skull
PubMed: 31822484
DOI: 10.1136/archdischild-2019-317455 -
Nature Reviews. Gastroenterology &... Jun 2015Studies in neuroscience and immunology have clarified much of the anatomical and cellular basis for bidirectional interactions between the nervous and immune systems. As... (Review)
Review
Studies in neuroscience and immunology have clarified much of the anatomical and cellular basis for bidirectional interactions between the nervous and immune systems. As with other organs, intestinal immune responses and the development of immunity seems to be modulated by neural reflexes. Sympathetic immune modulation and reflexes are well described, and in the past decade the parasympathetic efferent vagus nerve has been added to this immune-regulation network. This system, designated 'the inflammatory reflex', comprises an afferent arm that senses inflammation and an efferent arm that inhibits innate immune responses. Intervention in this system as an innovative principle is currently being tested in pioneering trials of vagus nerve stimulation using implantable devices to treat IBD. Patients benefit from this treatment, but some of the working mechanisms remain to be established, for instance, treatment is effective despite the vagus nerve not always directly innervating the inflamed tissue. In this Review, we will focus on the direct neuronal regulatory mechanisms of immunity in the intestine, taking into account current advances regarding the innervation of the spleen and lymphoid organs, with a focus on the potential for treatment in IBD and other gastrointestinal pathologies.
Topics: Humans; Immunity, Innate; Inflammatory Bowel Diseases; Intestines; Lymphatic System; Neural Pathways; Reflex, Abnormal; Spleen; Vagus Nerve
PubMed: 25963513
DOI: 10.1038/nrgastro.2015.56 -
American Journal of Medical Genetics.... Jan 2018Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome (OMIM# 601338) is a rare autosomal dominant disorder... (Review)
Review
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome (OMIM# 601338) is a rare autosomal dominant disorder characterized by episodic, fever-induced ataxic encephalopathy in childhood with residual symptoms. All identified patients have the same heterozygous missense variant c.2452G>A (p.Glu818Lys) in the ATP1A3 gene, encoding Na /K ATPase α3. We describe a large CAPOS pedigree with three generations of affected members, the first ascertained in the United States. Deafness, optic atrophy, and pes cavus were present in all three members of the family evaluated. In addition, one of the affected individuals experienced markedly worsening features during her three pregnancies and in the immediate postpartum period, a potential element of the natural history of CAPOS previously unreported. We conclude that the triggering factors and clinical spectrum of pathogenic ATP1A3 variants may be broader than previously described. Targeted sequencing of ATP1A3 should be considered in any patient presenting with cerebellar ataxia triggered by febrile illness, or pregnancy and delivery, especially in the presence of sensorineural hearing loss, optic atrophy, pes cavus, or early childhood history of acute encephalopathic ataxia. Prophylactic administration of acetazolamide or flunarizine may prevent acute episodes of ataxia or mitigate neurologic symptoms, although their efficacies have not been well studied.
Topics: Alleles; Cerebellar Ataxia; Child, Preschool; Female; Foot Deformities, Congenital; Genetic Association Studies; Genotype; Hearing Loss, Sensorineural; Humans; Infant; Male; Optic Atrophy; Pedigree; Phenotype; Pregnancy; Pregnancy Complications; Reflex, Abnormal; Sodium-Potassium-Exchanging ATPase
PubMed: 29090527
DOI: 10.1002/ajmg.a.38502 -
Minerva Anestesiologica Jul 2019Death by neurologic criteria is an irreversible sequence of events culminating in permanent cessation of cerebral functions. In this context, there are no responses... (Review)
Review
Death by neurologic criteria is an irreversible sequence of events culminating in permanent cessation of cerebral functions. In this context, there are no responses arising from the brain, no cranial nerve reflexes nor motor responses to pain stimuli, and no respiratory drive. The diagnosis of death by neurologic criteria implies that there is clinical evidence of the complete and irreversible cessation of brainstem and cerebral functions. The diagnosis, confirmation, and certification of death are core skills for medical practitioners. The aim of this review is to discuss the pathophysiology and definition of death by neurological criteria, describing the clinical assessment, and the use of ancillary tests for the diagnosis of brainstem death.
Topics: Apnea; Brain; Brain Death; Brain Injuries; Brain Stem; Coma; Death; Diabetes Insipidus; Diagnosis, Differential; Disease Progression; Electrodiagnosis; Heart Arrest; Hemodynamics; Hypothalamo-Hypophyseal System; Neuroimaging; Neurologic Examination; Reflex, Abnormal; Reflex, Pupillary; Sympathetic Nervous System
PubMed: 30871303
DOI: 10.23736/S0375-9393.19.13338-X -
Journal of the Neurological Sciences Mar 2023Pathogenic expansions in RFC1 have been described as a cause of a spectrum of disorders including late-onset ataxia, chronic cough, and cerebellar ataxia, neuropathy,...
INTRODUCTION
Pathogenic expansions in RFC1 have been described as a cause of a spectrum of disorders including late-onset ataxia, chronic cough, and cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). Sensory neuronopathy/neuropathy appears to be a major symptom of RFC1-disorder, and RFC1 expansions are common in patients with sensory chronic idiopathic axonal neuropathy or sensory ganglionopathy. We aimed to investigate RFC1 expansions in patients with suspected RFC1-related disease followed-up in a Neuromuscular Diseases Unit, with a particular interest in the involvement of the peripheral nervous system.
METHODS
We recruited twenty consecutive patients based on the presence of at least two of the following features: progressive ataxia, sensory neuropathy/neuronopathy, vestibulopathy and chronic cough. Medical records were retrospectively reviewed for a detailed clinical description. More extensive phenotyping of the RFC1-positive patients and clinical comparison between RFC1 positive and negative patients were performed.
RESULTS
Biallelic AAGGG repeat expansions were identified in 13 patients (65%). The most frequent symptoms were chronic cough and sensory disturbances in the lower extremities (12/13). Only 4 patients (31%) had complete CANVAS. The phenotypes were sensory ataxia and sensory symptoms in extremities in 4/13; sensory ataxia, sensory symptoms, and vestibulopathy in 3/13; sensory symptoms plus chronic cough in 2/13. Chronic cough and isolated sensory neuronopathy were significantly more prevalent in RFC1-positive patients.
CONCLUSION
Pathogenic RFC1 expansions are a common cause of sensory neuropathy/neuronopathy and should be considered in the approach to these patients. Identification of key symptoms or detailed interpretation of nerve conduction studies may improve patient selection for genetic testing.
Topics: Humans; Cerebellar Ataxia; Bilateral Vestibulopathy; Cough; Retrospective Studies; Ataxia; Peripheral Nervous System Diseases; Vestibular Diseases; Syndrome; Sensation Disorders; Reflex, Abnormal
PubMed: 36753892
DOI: 10.1016/j.jns.2023.120565 -
Postgraduate Medical Journal Aug 2016
Topics: Deglutition; Electrocardiography; Female; Heart Block; Humans; Middle Aged; Reflex, Abnormal; Risk Reduction Behavior; Syncope
PubMed: 27001863
DOI: 10.1136/postgradmedj-2016-133998 -
Tropical Medicine & International... Jun 2023To determine the prevalence of signs and symptoms of HTLV-1 and 2 infection in paediatric patients. (Review)
Review
OBJECTIVE
To determine the prevalence of signs and symptoms of HTLV-1 and 2 infection in paediatric patients.
METHODS
We included cohort, case-control and descriptive observational studies that reported the prevalence of signs and symptoms of HTLV-1 and 2 infections in paediatric patients. Searches were performed in MEDLINE® (Ovid), EMBASE and LILACS from inception to the present, and we saturated information with other sources of published and unpublished literature. We decided not to perform meta-analysis according to heterogeneity.
RESULTS
A total of eight studies met the inclusion criteria for qualitative analysis. No studies of HTLV-2 were found. Females predominated and there was vertical transmission in nearly 100% of cases. Infective dermatitis was a common manifestation of HTLV in paediatric patients. In addition, persistent hyperreflexia, clonus and the Babinski sign were early neurological alterations observed in patients carrying the virus.
CONCLUSION
HTLV screening is recommended in patients presenting infective dermatitis, persistent hyperreflexia, walking disturbances and in those who come from endemic zones.
Topics: Child; Female; Humans; Dermatitis; HTLV-I Infections; Human T-lymphotropic virus 1; Paraparesis, Tropical Spastic; Reflex, Abnormal; Observational Studies as Topic
PubMed: 37101377
DOI: 10.1111/tmi.13879