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Journal of Family & Community Medicine 2024Optimum serotonin level in the serotonergic synapses of the central nervous system (CNS) is related to mood, behavior, and sleep. Serotonin syndrome (SS) is a rare yet... (Review)
Review
Optimum serotonin level in the serotonergic synapses of the central nervous system (CNS) is related to mood, behavior, and sleep. Serotonin syndrome (SS) is a rare yet very dangerous adverse effect resulting from increased serotonin in CNS. The diagnosis of SS is based on the presence of clinical symptoms, which can include agitation, confusion, rapid heart rate, high blood pressure, dilated pupils, muscle rigidity, tremors, sweating, and diarrhea. SS is invariably caused by inadvertent use of serotonergic medicines. There is an ever-growing list of medicines that are associated with the risk of SS. Some of the common classes of drugs that can contribute to the development of SS include selective serotonin reuptake inhibitors, serotonin-norepinephrine reuptake inhibitors, monoamine oxidase inhibitors, tricyclic antidepressants, stimulants (e.g., amphetamines and cocaine), lithium, opioids, drugs used for recreational purposes like ecstasy Methylenedioxymethamphetamine (MDMA), and some herbal supplements (e.g., St. John's Wort). SS can occur when these medications are taken alone or in combination, especially when a new medication is added, or the dose of an existing medication is changed. The management of SS typically involves discontinuing the use of the substance that caused the excess serotonin levels and providing supportive care, such as intravenous fluids and electrolytes. In severe cases, benzodiazepines may be used to control agitation and muscle rigidity, while serotonin antagonists, such as cyproheptadine, may be used to reduce serotonin levels. The literature review points to a general unawareness among physicians about the condition or drugs associated with it. Consequently, this potentially fatal condition is overlooked. There is a need for regular information updates and reminders to all those who prescribe medications to the patients.
PubMed: 38406216
DOI: 10.4103/jfcm.jfcm_236_23 -
Scientific Reports Feb 2024Parkinson's disease (PD) is a progressively debilitating neurodegenerative disorder that primarily affects the dopaminergic system in the basal ganglia, impacting...
Parkinson's disease (PD) is a progressively debilitating neurodegenerative disorder that primarily affects the dopaminergic system in the basal ganglia, impacting millions of individuals globally. The clinical manifestations of the disease include resting tremors, muscle rigidity, bradykinesia, and postural instability. Diagnosis relies mainly on clinical evaluation, lacking reliable diagnostic tests and being inherently imprecise and subjective. Early detection of PD is crucial for initiating treatments that, while unable to cure the chronic condition, can enhance the life quality of patients and alleviate symptoms. This study explores the potential of utilizing long-short term memory neural networks (LSTM) with attention mechanisms to detect Parkinson's disease based on dual-task walking test data. Given that the performance of networks is significantly inductance by architecture and training parameter choices, a modified version of the recently introduced crayfish optimization algorithm (COA) is proposed, specifically tailored to the requirements of this investigation. The proposed optimizer is assessed on a publicly accessible real-world clinical gait in Parkinson's disease dataset, and the results demonstrate its promise, achieving an accuracy of 87.4187 % for the best-constructed models.
Topics: Humans; Parkinson Disease; Memory, Short-Term; Neural Networks, Computer; Basal Ganglia; Gait
PubMed: 38383690
DOI: 10.1038/s41598-024-54680-y -
Gait & Posture Mar 2024Perinatal running participation has increased recently; however, pregnancy related symptoms can limit activity. Perinatal running biomechanics could inform interventions...
BACKGROUND
Perinatal running participation has increased recently; however, pregnancy related symptoms can limit activity. Perinatal running biomechanics could inform interventions to help perinatal individuals maintain an active lifestyle.
RESEARCH QUESTION
Are perinatal running biomaechanics and muscle activation different compared to nulligravida females?
METHODS
Sixteen pregnant participants completed self-selected velocity running during second trimester (2 T), third trimester (3 T), and postpartum (PP) and 16 matched controls completed these procedures once in this case control study. Kinematic, kinetic, and electromyography (EMG) data were collected using a motion capture system, force plates, and EMG electrodes. Peak trunk, pelvis, hip, knee, and ankle kinematics and hip, knee, and ankle moments during stance phase, and average and peak erector spinae (ES), gluteus maximus (GMax), and gluteus medius (GMed) EMG amplitude and duration of activation during stance and swing phases were calculated. Independent t-tests were used to compare 2 T, 3 T, and PP to control participants (α < 0.05).
RESULTS
Running velocity was slower during 3 T compared to control participants. At all pregnancy timepoints compared to the control group, peak trunk contralateral rotation was smaller. During 2 T and 3 T peak hip flexor moments were smaller. At 3 T pelvis contralateral rotation was smaller, ES average amplitude was greater during swing, GMax percent duration during stance and GMed percent duration during swing were smaller. At PP trunk flexion was smaller and knee abduction was greater (all p < 0.05).
CONCLUSIONS
Decreased running velocity may help offset increased demand during pregnancy. During 3 T, greater ES activation, smaller trunk and pelvis motion, and altered gluteal activation could indicate trunk rigidity combined with modified hip stabilizer muscle utilization. During PP, the rigid trunk combined with greater knee abduction may indicate hip and trunk strength deficits. Altered trunk and hip motion and activation could be relevant to pathologies such as perinatal low back, pelvic girdle, or knee pain.
Topics: Humans; Female; Pregnancy; Hip Joint; Biomechanical Phenomena; Case-Control Studies; Muscle, Skeletal; Electromyography; Running; Buttocks
PubMed: 38377744
DOI: 10.1016/j.gaitpost.2024.02.004 -
BMC Musculoskeletal Disorders Feb 2024Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid...
BACKGROUND
Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported only once.
CASE PRESENTATION
We describe a 23-year-old patient with Miyoshi myopathy with a rigid spine and multiple contractures, a rare phenotypic variant. The disease first manifested when the patient was 13 years old, with fatigue of the gastrocnemius muscles and the development of pronounced contractures of the Achilles tendons, flexors of the fingers, and extensors of the toes, followed by the involvement of large joints and the spine. Magnetic resonance imaging revealed signs of connective tissue and fatty replacement of the posterior muscles of the thighs and lower legs. Edema was noted in the anterior and medial muscle groups of the thighs, lower legs, and the multifidus muscle of the back. Whole genome sequencing revealed previously described mutations in the DYSF gene in exon 39 (c.4282 C > T) and intron 51 (c.5785-824 C > T). An immunohistochemical analysis and Western blot showed the complete absence of dysferlin protein expression in the muscle fibers.
CONCLUSIONS
This case expands the range of clinical and phenotypic correlations of dysferlinopathy and complements the diagnostic search for spine rigidity.
Topics: Humans; Adolescent; Young Adult; Adult; Membrane Proteins; Muscle Proteins; Muscular Dystrophies, Limb-Girdle; Distal Myopathies; Mutation; Contracture; Muscular Atrophy
PubMed: 38365661
DOI: 10.1186/s12891-024-07270-y -
Toxins Dec 2023The current data regarding poisoning associated with ingestion of fungus-infected cicada nymphs are limited. We performed a retrospective cohort study of patients who...
The current data regarding poisoning associated with ingestion of fungus-infected cicada nymphs are limited. We performed a retrospective cohort study of patients who ingested fungus-infected cicada nymphs and were referred to the Ramathibodi Poison Center for consultation from June 2010 to June 2022. Thirty-nine patients were included for analysis. Most were men (53.8%). Mean age was 40.2 ± 15.0 years. All nymphs were ingested as a health/food supplement. Thirty-one patients (79.5%) reported gastrointestinal symptoms. Median time from ingestion to symptom onset was 5 h. Twenty-nine patients (74.4%) reported neurological symptoms, including tremor, myoclonus, muscle rigidity, nystagmus/ocular clonus, drowsiness, dysarthria, seizure, and confusion. Some complained of dizziness, urinary retention, and jaw stiffness. Most patients (94.9%) were admitted to the hospital. Median hospital stay was 3 days. Ibotenic acid was detected in the blood and urine samples of one patient. All received supportive care. Four patients developed infectious complications. No deaths occurred. Consuming fungus-infected cicada nymphs may cause poisoning in humans. Gastrointestinal and neurological symptoms were common. Ibotenic acid might be the underlying cause. The main treatment is supportive care and appropriate management of complications. Education of the general public is advocated to prevent the incidence of this type of poisoning.
Topics: Male; Humans; Adult; Middle Aged; Female; Thailand; Ibotenic Acid; Retrospective Studies; Fungi; Eating
PubMed: 38251239
DOI: 10.3390/toxins16010022 -
Frontiers in Psychiatry 2023We present a male patient carrying a pathogenic MECP2 p. Arg179Trp variant with predominant negative psychiatric features and multilevel evidence of mitochondrial...
We present a male patient carrying a pathogenic MECP2 p. Arg179Trp variant with predominant negative psychiatric features and multilevel evidence of mitochondrial dysfunction who responded to the cariprazine treatment. He had delayed speech development and later experienced severe social anxiety, learning disabilities, cognitive slowing, and predominant negative psychiatric symptoms associated with rigidity. Clinical examinations showed multisystemic involvement. Together with elevated ergometric lactate levels, the clinical picture suggested mitochondrial disease, which was also supported by muscle histopathology. Exploratory transcriptome analysis also revealed the involvement of metabolic and oxidative phosphorylation pathways. Whole-exome sequencing identified a pathogenic MECP2 variant, which can explain both the dopamine imbalance and mitochondrial dysfunction in this patient. Mitochondrial dysfunction was previously suggested in classical Rett syndrome, and we detected related phenotype evidence on multiple consistent levels for the first time in a MECP2 variant carrier male. This study further supports the importance of the MECP2 gene in the mitochondrial pathways, which can open the gate for more personalized therapeutic interventions. Good cariprazine response highlights the role of dopamine dysfunction in the complex psychiatric symptoms of Rett syndrome. This can help identify the optimal treatment strategy from a transdiagnostic perspective instead of a classical diagnostic category.
PubMed: 38250256
DOI: 10.3389/fpsyt.2023.1301272 -
Cureus Dec 2023In the realm of well-being, the essence of maintaining optimal oral health is gaining more recognition. This quantifying quotient is being compromised in cerebral palsy... (Review)
Review
In the realm of well-being, the essence of maintaining optimal oral health is gaining more recognition. This quantifying quotient is being compromised in cerebral palsy (CP) patients due to multitude variations. Spastic CP predominantly impacts bodily motions, muscle synchronization, command, muscle tone, reflexes, stance, equilibrium, and can additionally influence both delicate and large-scale motor abilities. For individuals with spastic CP, the rigidity extends its influence over both their upper and lower limbs. When this stiffness takes hold in the upper limb, it poses significant challenges in executing everyday activities, causing issues with precise grasping and coordination of muscle movements. Consequently, using a toothbrush effectively becomes a formidable task resulting in widespread caries and periodontal diseases in spastic CP patients. The central focus of this review is to explore the oral health challenges of spastic cerebral palsy patients and mapping out a path towards the most efficient time-tested and innovative dental management approaches for preserving oral health in these patients.
PubMed: 38196433
DOI: 10.7759/cureus.50246 -
Journal of Veterinary Internal Medicine 2024Muscular dystrophies (MDs) are a large, heterogeneous group of degenerative muscle diseases. X-linked dystrophin-deficient MD in cats is the first genetically...
BACKGROUND
Muscular dystrophies (MDs) are a large, heterogeneous group of degenerative muscle diseases. X-linked dystrophin-deficient MD in cats is the first genetically characterized cat model for a human disease and a few novel forms have been identified.
HYPOTHESIS/OBJECTIVES
Muscular dystrophy was suspected in a young male domestic shorthair cat. Clinical, molecular, and genetic techniques could provide a definitive diagnosis.
ANIMALS
A 1-year-old male domestic shorthair cat presented for progressive difficulty walking, macroglossia and dysphagia beginning at 6 months of age. The tongue was thickened, protruded with constant ptyalism, and thickening and rigidity of the neck and shoulders were observed.
METHODS
A complete neurological examination, baseline laboratory evaluation and biopsies of the trapezius muscle were performed with owner consent. Indirect immunofluorescence staining of muscle cryosections was performed using several monoclonal and polyclonal antibodies against dystrophy-associated proteins. DNA was isolated for genomic analyses by whole genome sequencing and comparison to DNA variants in the 99 Lives Cat Genome Sequencing dataset.
RESULTS AND CLINICAL IMPORTANCE
Aspartate aminotransferase (687 IU/L) and creatine kinase (24 830 IU/L) activities were increased and mild hypokalemia (3.7 mmol/L) was present. Biopsy samples from the trapezius muscle confirmed a degenerative and regenerative myopathy and protein alterations identified by immunohistochemistry resulted in a diagnosis of a in dystrophin-deficient form of X-linked MD. A stop gain variant (c.4849C>T; p.Gln1617Ter) dystrophin was identified by genome sequencing. Precision/genomic medicine efforts for the domestic cat and in veterinary medicine support disease variant and animal model discovery and provide opportunities for targeted treatments for companion animals.
Topics: Humans; Cats; Male; Animals; Dystrophin; Precision Medicine; Muscular Dystrophy, Duchenne; Whole Genome Sequencing; DNA; Cat Diseases
PubMed: 38180235
DOI: 10.1111/jvim.16971 -
Journal of Integrative Neuroscience Oct 2023Parkinson's disease (PD) is a common neurodegenerative disorder characterized by misfolding of α-synuclein. Clinical manifestations include slowly developing resting... (Review)
Review
Parkinson's disease (PD) is a common neurodegenerative disorder characterized by misfolding of α-synuclein. Clinical manifestations include slowly developing resting tremor, muscle rigidity, bradykinesia and abnormal gait. The pathological mechanisms underlying PD are complex and yet to be fully elucidated. Clinical studies suggest that the onset of gastrointestinal symptoms may precede motor symptoms in PD patients. The microbiota-gut-brain axis plays a bidirectional communication role between the enteric nervous system and the central nervous system. This bidirectional communication between the brain and gut is influenced by the neural, immune and endocrine systems related to the gut microbiome. A growing body of evidence indicates a strong link between dysregulation of the gut microbiota and PD. In this review, we present recent progress in understanding the relationship between the microbiota-gut-brain axis and PD. We focus on the role of the gut microbiota, the unique changes observed in the microbiome of PD patients, and the impact of these changes on the progression of PD. Finally, we evaluate the role of current treatment strategies for PD, including probiotics, fecal microbial transplants, dietary modifications, and related drug therapies.
Topics: Humans; Parkinson Disease; Brain-Gut Axis; Gastrointestinal Microbiome; Probiotics; Brain
PubMed: 38176929
DOI: 10.31083/j.jin2206157 -
Veterinarni Medicina Nov 2023Malignant hyperthermia (MH) is a clinical syndrome exhibiting elevation of expired carbon dioxide, hyperthermia, muscle rigidity, rhabdomyolysis, acidosis and...
Malignant hyperthermia (MH) is a clinical syndrome exhibiting elevation of expired carbon dioxide, hyperthermia, muscle rigidity, rhabdomyolysis, acidosis and hyperkalaemia, as well as cardiac dysrhythmia and renal failure. The syndrome manifests itself as a response to anaesthetic agents, such as e.g., halothane, desflurane, and succinylcholine. Depending on the animal species, MH is characterised by autosomal dominant or recessive inheritance, and so far two genes have been identified whose mutations can be linked to MH: and . In different species, various mutations of the gene have been described which may underlie MH. One of these mutations in dogs is T1640C, which results in the substitution of alanine for valine of the amino acid 547 (V547A) in the RYR1 protein. In our work, we aimed to investigate MH at the DNA level by identifying the T1640C mutation in a group of 50 dogs. For this purpose we used the PCR-RFLP technique, and in six dogs also direct sequencing of PCR products and subsequent comparison of their sequences with the RYR1 gene sequence in an online database. The results of our study show that none of the dogs analysed had any mutant allele of the RYR1 gene, indicating that none should be affected by MH.
PubMed: 38163044
DOI: 10.17221/46/2023-VETMED