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BMC Nephrology Jul 2021With an increase in the global popularity of coffee, caffeine is one of the most consumed ingredients of modern times. However, the consumption of massive amounts of...
BACKGROUND
With an increase in the global popularity of coffee, caffeine is one of the most consumed ingredients of modern times. However, the consumption of massive amounts of caffeine can lead to severe hypokalemia.
CASE PRESENTATION
A 29-year-old man without a specific past medical history was admitted to our hospital with recurrent episodes of sudden and severe lower-extremity weakness. Laboratory tests revealed low serum potassium concentration (2.6-2.9 mmol/L) and low urine osmolality (100-130 mOsm/kgHO) in three such prior episodes. Urinary potassium/urinary creatinine ratio was 12 and 16 mmol/gCr, respectively. The patient was not under medication with laxatives, diuretics, or herbal remedies. Through an in-depth interview, we found that the patient consumed large amounts of caffeine-containing beverages daily, which included > 15 cups of coffee, soda, and various kinds of tea. After the cessation of coffee intake and concomitant intravenous potassium replacement, the symptoms rapidly resolved, and the serum potassium level normalized.
CONCLUSIONS
An increased intracellular shift of potassium and increased loss of potassium in urine due to the diuretic action have been suggested to be the causes of caffeine-induced hypokalemia. In cases of recurring hypokalemia of unknown cause, high caffeine intake should be considered.
Topics: Adult; Caffeine; Coffee; Diet Therapy; Diuretics; Drinking Behavior; Fluid Therapy; Humans; Hypokalemia; Male; Muscle Weakness; Osmolar Concentration; Paraplegia; Potassium; Recurrence; Treatment Outcome; Urinalysis
PubMed: 34243702
DOI: 10.1186/s12882-021-02465-0 -
Unfallchirurgie (Heidelberg, Germany) Oct 2023This article describes the current status of modern treatment options for traumatic spinal cord injuries with a particular focus on the perioperative phase. Along with... (Review)
Review
This article describes the current status of modern treatment options for traumatic spinal cord injuries with a particular focus on the perioperative phase. Along with a recognition of age-related specific features that can impact successful treatment of spinal injuries, prompt interdisciplinary treatment while adhering to the "time is spine" principle is of high importance. By considering this approach and using modern diagnostic and surgical techniques, successful surgical treatment can be achieved while taking into account individual characteristics, such as reduced bone quality, accompanying injuries as well as oncological and inflammatory rheumatic comorbidities. The preventive and treatment strategies for frequently occurring complications in the management of traumatic spinal cord injuries are presented. By considering case-specific factors, utilizing modern surgical techniques, avoiding or promptly treating typical complications and initiating interdisciplinary treatment, crucial groundwork for a successful long-term treatment of this highly debilitating and life-altering injury can be established in the perioperative phase.
Topics: Humans; Paraplegia; Spinal Cord Injuries; Spinal Injuries; Comorbidity; Cervical Vertebrae
PubMed: 37306757
DOI: 10.1007/s00113-023-01342-9 -
Movement Disorders : Official Journal... Feb 2022In a large pedigree with an unusual phenotype of spastic paraplegia or dystonia and autosomal dominant inheritance, linkage analysis previously mapped the disease to...
BACKGROUND
In a large pedigree with an unusual phenotype of spastic paraplegia or dystonia and autosomal dominant inheritance, linkage analysis previously mapped the disease to chromosome 2q24-2q31.
OBJECTIVE
The aim of this study is to identify the genetic cause and molecular basis of an unusual autosomal dominant spastic paraplegia and dystonia.
METHODS
Whole exome sequencing following linkage analysis was used to identify the genetic cause in a large family. Cosegregation analysis was also performed. An additional 384 individuals with spastic paraplegia or dystonia were screened for pathogenic sequence variants in the adenosine triphosphate (ATP) synthase membrane subunit C locus 3 gene (ATP5MC3). The identified variant was submitted to the "GeneMatcher" program for recruitment of additional subjects. Mitochondrial functions were analyzed in patient-derived fibroblast cell lines. Transgenic Drosophila carrying mutants were studied for movement behavior and mitochondrial function.
RESULTS
Exome analysis revealed a variant (c.318C > G; p.Asn106Lys) (NM_001689.4) in ATP5MC3 in a large family with autosomal dominant spastic paraplegia and dystonia that cosegregated with affected individuals. No variants were identified in an additional 384 individuals with spastic paraplegia or dystonia. GeneMatcher identified an individual with the same genetic change, acquired de novo, who manifested upper-limb dystonia. Patient fibroblast studies showed impaired complex V activity, ATP generation, and oxygen consumption. Drosophila carrying orthologous mutations also exhibited impaired mitochondrial function and displayed reduced mobility.
CONCLUSION
A unique form of familial spastic paraplegia and dystonia is associated with a heterozygous ATP5MC3 variant that also reduces mitochondrial complex V activity.
Topics: Dystonia; Dystonic Disorders; Humans; Mutation; Paraplegia; Pedigree; Phenotype; Spastic Paraplegia, Hereditary
PubMed: 34636445
DOI: 10.1002/mds.28821 -
Parkinsonism & Related Disorders May 2023We describe a case with co-occurring SPG7 and GBA mutations in a patient presenting with early-onset asymmetric parkinsonism with levodopa-induced dyskinesias and...
We describe a case with co-occurring SPG7 and GBA mutations in a patient presenting with early-onset asymmetric parkinsonism with levodopa-induced dyskinesias and dystonia who underwent pallidal deep brain stimulation and developed spastic paraparesis. This case highlights diagnostic and management challenges in individuals with unusual or misleading presentations of rare genetic conditions.
Topics: Humans; Spastic Paraplegia, Hereditary; Paraplegia; Mutation; Parkinsonian Disorders
PubMed: 36754704
DOI: 10.1016/j.parkreldis.2023.105315 -
Molecular Psychiatry Apr 2024The ionotropic glutamate delta receptor GluD1, encoded by the GRID1 gene, is involved in synapse formation, function, and plasticity. GluD1 does not bind glutamate, but...
The ionotropic glutamate delta receptor GluD1, encoded by the GRID1 gene, is involved in synapse formation, function, and plasticity. GluD1 does not bind glutamate, but instead cerebellin and D-serine, which allow the formation of trans-synaptic bridges, and trigger transmembrane signaling. Despite wide expression in the nervous system, pathogenic GRID1 variants have not been characterized in humans so far. We report homozygous missense GRID1 variants in five individuals from two unrelated consanguineous families presenting with intellectual disability and spastic paraplegia, without (p.Thr752Met) or with (p.Arg161His) diagnosis of glaucoma, a threefold phenotypic association whose genetic bases had not been elucidated previously. Molecular modeling and electrophysiological recordings indicated that Arg161His and Thr752Met mutations alter the hinge between GluD1 cerebellin and D-serine binding domains and the function of this latter domain, respectively. Expression, trafficking, physical interaction with metabotropic glutamate receptor mGlu1, and cerebellin binding of GluD1 mutants were not conspicuously altered. Conversely, upon expression in neurons of dissociated or organotypic slice cultures, we found that both GluD1 mutants hampered metabotropic glutamate receptor mGlu1/5 signaling via Ca and the ERK pathway and impaired dendrite morphology and excitatory synapse density. These results show that the clinical phenotypes are distinct entities segregating in the families as an autosomal recessive trait, and caused by pathophysiological effects of GluD1 mutants involving metabotropic glutamate receptor signaling and neuronal connectivity. Our findings unravel the importance of GluD1 receptor signaling in sensory, cognitive and motor functions of the human nervous system.
Topics: Humans; Intellectual Disability; Male; Synapses; Female; Receptors, Metabotropic Glutamate; Signal Transduction; Homozygote; Receptors, Glutamate; Receptor, Metabotropic Glutamate 5; Pedigree; Adult; Paraplegia; Animals; Child; Neurons; Adolescent; HEK293 Cells; Mutation
PubMed: 38418578
DOI: 10.1038/s41380-024-02469-w -
The Canadian Journal of Neurological... Sep 2022
Topics: Humans; Mutation; Nucleotides; Paraplegia; Phenotype; Spastic Paraplegia, Hereditary
PubMed: 34505563
DOI: 10.1017/cjn.2021.213 -
Der Chirurg; Zeitschrift Fur Alle... Jun 2021Patients with paraplegia develop syndrome-specific complications relevant to visceral surgery, which occur in the context of the acute spinal shock or as a consequence... (Review)
Review
BACKGROUND
Patients with paraplegia develop syndrome-specific complications relevant to visceral surgery, which occur in the context of the acute spinal shock or as a consequence of the progressive neurogenic bowel dysfunction (NBD) with the formation of an elongated colon and/or megacolon. Moreover, acute abdominal emergencies, such as acute appendicitis, cholecystitis, diverticulitis and ileus images, pose particular challenges for the clinician when the clinical signs are atypical or even absent. The expansion of indications for obesity surgery to include patients with a paraplegic syndrome, whose independence and quality of life can be impaired due to the restricted mobility, especially by obesity, is becoming increasingly more important.
OBJECTIVE
This article provides an overview of the special requirements and aspects in the treatment of this special patient collective and to show the evidence of paraplegia-specific visceral surgery treatment.
MATERIAL AND METHODS
Targeted literature search in Medline and Cochrane library (German and English, 1985-2020).
RESULTS AND CONCLUSION
The clinical treatment of paraplegic patients requires in-depth knowledge of the pathophysiological changes at the different height of the paraplegia (upper versus lower motor neuron) and the phase of the disease (spinal shock versus long-term course). Missing or atypical clinical symptoms of acute diseases delay a quick diagnosis and make early diagnosis essential. The evidence for surgical treatment of the acute and chronic consequences of NBD is based on small retrospective series and case reports, as is that for special indications such as obesity surgery.
Topics: Appendicitis; Digestive System Surgical Procedures; Humans; Paraplegia; Quality of Life; Retrospective Studies
PubMed: 33630122
DOI: 10.1007/s00104-021-01364-2 -
Spinal Cord Series and Cases Jun 2020This is a retrospective, non-randomized cohort study, with data collected during the regular annual visits between 2001 and 2019.
STUDY DESIGN
This is a retrospective, non-randomized cohort study, with data collected during the regular annual visits between 2001 and 2019.
OBJECTIVES
The aim of this study was to evaluate the efficacy of coccygectomy for coccygeal pressure ulcers in individuals with paraplegia due to spinal cord injury or other neurological causes and to evaluate its role in the prophylaxis of ulcer recurrence.
SETTINGS
This study included inpatients and outpatients with a coccygeal pressure ulcer who were treated surgically at our Institution REHAB Basel and were followed with regular annual check-ups.
METHODS
Individuals with category 3 or 4 acute or chronic coccygeal pressure ulcer (classification according European Pressure Ulcer Advisory Panel (EPUAP)) received coccygectomy in addition to rotation flap surgery. The operative care was provided exclusively by the head of the plastic surgery department at REHAB Basel. Standardized follow-up treatment was carried out according to the "Basel Decubitus Concept" and thus allowed continuous and usually lifelong, regular follow-up care.
RESULTS
Forty-nine individuals underwent coccygectomy from 2001 to 2019 due to coccygeal category 3 or 4 pressure ulcers. The observation period was between 1.5 and 18.3 years. In 86% of the individuals, no relapse occurred during the first year. Over the next 5 years 78% remained relapse free.
CONCLUSIONS
In coccygeal pressure ulcer category 3 or 4, coccygectomy, in addition to sufficient rotation flap surgery, is a suitable method for recurrence prevention of pressure ulcer in this anatomic area.
Topics: Aged; Female; Humans; Male; Middle Aged; Paraplegia; Pressure Ulcer; Recurrence; Retrospective Studies; Sacrococcygeal Region; Secondary Prevention; Treatment Outcome
PubMed: 32555143
DOI: 10.1038/s41394-020-0299-0 -
The Journal of Spinal Cord Medicine Jan 2023To identify and analyze the biosocioeconomic profile associated with the occupation and education of persons with spinal cord injury (SCI) from Brazil.
OBJECTIVE
To identify and analyze the biosocioeconomic profile associated with the occupation and education of persons with spinal cord injury (SCI) from Brazil.
DESIGN
Analytical, quantitative, descriptive, cross-sectional.
PARTICIPANTS
Sample composed of 618 Brazilian adults with SCI and access to the internet.
SETTING
Community-based, Brazil.
METHODS
An online form was developed and publicized on Brazilian social media to voluntarily register for participation in research. Pearson's Chi-squared test was used to analyze the association between categorical variables and the Kruskal Wallis test was used for comparisons and adjusted Odds Ratio with a 95% Confidence Interval.
RESULTS
Among the 618 participants, 68.9% were men, with mean age of 38.04 years (SD = 9.85); 58.7% were people with paraplegia and most injuries were traumatic (78.5%), most caused by road traffic accidents (40.8%) and weapons (17.5%). The majority were graduates or post-graduates (49.5%) and received an income of up to US$ 749.58 (55.1%); 70.9% of the participants were beneficiaries of social welfare (63.6%) or unemployed (7.3%). There was a reduction in the employment rate from 91.3% to 15.2% after SCI. An association was found between education and current occupation (P ≥ 0.001). Participants with higher education had higher odds (7.48) to being employed relative to those with elementary education.
CONCLUSION
A serious employment situation after SCI was found, with high unemployment and dependence on social welfare. This shows the need for investment in public policies for the rehabilitation, focused on participation, return to the labor market, and ending dependence on social welfare.
Topics: Adult; Male; Humans; Female; Spinal Cord Injuries; Brazil; Employment; Cross-Sectional Studies; Paraplegia
PubMed: 35007477
DOI: 10.1080/10790268.2021.1947679 -
Traffic Injury Prevention 2021The objective of this study was to compare the brake response time of drivers with paraplegia (who use hand control) with drivers without paraplegia (who use their... (Comparative Study)
Comparative Study
The objective of this study was to compare the brake response time of drivers with paraplegia (who use hand control) with drivers without paraplegia (who use their feet) in a virtual driving simulator brake test. Additionally, we aimed to predict and evaluate the association of virtual brake response time with sociodemographic, motor and cognitive variables. 40 male adult drivers, with paraplegia (n = 20, mean age 38.1 ± 3.6 years) and without paraplegia (n = 20, mean age 38.0 ± 5.8 years), with valid driver licenses, had their brake response time evaluated in an automatic transmission car simulator. Non-disabled drivers were tested with conventional foot controls, while paraplegic drivers used hand controls. Drivers with paraplegia performed simple, choice and go/no-go reaction time tests as neuropsychological evaluations. Student's -test was used to examine the differences of driving simulator brake response time between groups. Pearson coefficient verified the correlation of driving simulator brake response time with years of driving, length of disability, handgrip strength and neuropsychological tests of the paraplegic drivers. A regression model was developed to describe the mean of driving simulator brake response time using the backward elimination method for model adjustment selecting the explanatory variables. Differences of simulator brake response time between groups were not statistically significant (non-paraplegic drivers = 0.90 seconds; paraplegic drivers = 0.92 seconds, p > 0.05). Years of driving significantly correlates with brake response time of paraplegic driver (r= -58, p = 0.009). Linear regression analyses indicated that years of schooling and years of driving (explanatory variables) explained 60.2% of driving simulator brake response time for the drivers with paraplegia. Driving simulator brake response time showed no difference between drivers with and without paraplegia. Years of driving and schooling were the main predictors of braking performance in drivers with paraplegia measured in a driving simulator.
Topics: Accidents, Traffic; Adult; Automobile Driving; Computer Simulation; Hand Strength; Humans; Lower Extremity; Male; Middle Aged; Neuropsychological Tests; Paraplegia; Reaction Time; Regression Analysis; Safety
PubMed: 33661082
DOI: 10.1080/15389588.2021.1880007