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Background: While the reported prevalence of polyneuropathies is 1%-3%, the incidence of hereditary transthyretin amyloidosis in the United States is estimated to be 1 in 100 000 individuals. Polyneuropathies are known to be difficult to treat and lead to significant morbidity. The aim of pain management is symptomatic treatment, with varying approaches to progression prevention being based on the causative pathophysiology.We assessed the prevalence of hereditary amyloid transthyretin variant (ATTRv) amyloidosis, a progressive autosomal dominant multisystem disease caused by the abnormal formation and extracellular deposition of transthyretin protein fibrils in various tissues, in an idiopathic polyneuropathy population by using genetic analysis. Methods: Individuals aged 18 and over with an established diagnosis of polyneuropathy, via electromyography testing that was deemed to be idiopathic, at a large, urban neurology clinic consented to an institutional review board-approved protocol for genetic testing. No further exclusions were made regarding age of onset, family history, axonal neuropathy subtype, comorbidities suggestive of ATTRv amyloidosis, etc. Clinical genetic testing was performed on 134 participants via an 81-gene panel associated with inherited neuromuscular disorders or targeted TTR gene sequencing with deletion and duplication analysis. Results: Within our cohort, 38.06% had at least one reportable finding in one of 38 distinct genes, for a total of 76 reported alterations. Four individuals were identified as having a single pathogenic alteration in an autosomal recessive gene, consistent with carrier status for the 4 following disorders: congenital insensitivity to pain with anhidrosis (NTRK1), Charcot-Marie-Tooth disease type IIP (LRSAM1), Brown-Vialetto-Van Laere syndrome type II (SLC52A2), hereditary sensory and autonomic neuropathy type III (IKBKAP). One individual was found to have a variant of uncertain significance (VUS) (p.G103D) in the TTR gene. Conclusion: Precision medicine on the molecular level with genetic testing in the identification of specific neuropathies may provide clinicians with more detailed information for developing a more direct therapeutic and treatment modality for better-targeted management. Further investigation is needed to expand on the knowledge and understanding of the clinical relevance surrounding the alterations found in the genetic evaluation of idiopathic neuropathy.
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As spinal cord stimulation (SCS) becomes a staple of chronic pain management, the SCS industry must constantly evolve to ensure safety, convenience and enhanced efficacy. Beyond waveforms and size, MR-conditionality is a key differentiator sought out by physicians and patients when choosing SCS devices. Many common SCS complications, including lead migration, can affect the MR-conditionality. The authors reviewed literature published between 2015 and 2024 using PubMed and Google Scholar databases, as well as US FDA labels for magnetic resonance imaging and technical manuals with further confirmation from local representatives. Through extensive review of the literature and direct extraction from each SCS device company, the authors aimed to investigate the specific terms of MR-conditionality under various circumstances. This article provides a collective reference of the MR-conditionality of the currently available SCS devices under normal conditions, as well as with common failure modes, such as lead migration, lead fracture and battery detachment.
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Neuroleptic malignant syndrome (NMS), a potentially life-threatening neurological emergency characterized by muscle rigidity, altered mental status (AMS), autonomic instability, and hyperthermia, is most commonly precipitated by high-potency first-generation antipsychotics due to central dopamine receptor blockade. There is a heightened risk of NMS in animals with ischemic brain injury (IBI) or traumatic brain injury (TBI) due to the resulting death of dopaminergic neurons from injury and the dopamine receptor blockade elicited upon recovery. To the best of our knowledge, this will be the first documented case of a critically ill patient, with a history of prior exposure to antipsychotics, who suffered an anoxic brain injury with subsequent development of NMS after the initiation of haloperidol for the treatment of acute agitation. Further investigation is necessary to expand upon the existing literature suggesting the role of alternative agents, including amantadine, due to its impact on dopaminergic transmission, as well as dopamine and glutamine release. Furthermore, NMS can be difficult to diagnose due to variable clinical presentation and lack of absolute diagnostic criteria, which is further compounded with central nervous system (CNS) injury, where neurological abnormalities and AMS may be attributed to the injury, rather than a medication effect, especially in the early period. This case highlights the significance of prompt recognition with appropriate treatment of NMS in vulnerable and susceptible patients suffering from brain injury.
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Posttraumatic stress disorder (PTSD) is a debilitating stress disorder occurring in the context of a traumatic event and is characterized by intrusive and avoidance symptoms, negative alterations in cognition and mood, and arousal and reactivity changes. Despite its representation throughout literature, the pathophysiology of PTSD remains incompletely understood, thus contributing to broad, variable, and at times, experimental treatment options. The authors present the first documented case of the rapid and successful management of PTSD using valproic acid and twice daily dosing of prazosin aimed at targeting symptoms of hyperarousal and both daily and nightly intrusive symptoms of flashbacks and nightmares, respectively. The authors also discuss postulations of the underlying mechanisms of action responsible for such symptom alleviation. Further investigation is needed to expand upon our knowledge of the use of such agents in the treatment of PTSD to improve upon existing clinical guidelines, especially in the acute setting, thus providing better overall prognosis.
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Description Gender dysphoria occurs when a discrepancy between one's sex assigned at birth and one's gender identity causes distress or impairment in function, which can lead ultimately to seeking treatment in the forms of psychotherapy, hormonal therapy, and/or gender-affirming surgery. Clinical care guidelines also recommend pharmacological treatment of psychiatric comorbidities if indicated. A review of the current literature demonstrates comorbidity between gender dysphoria and psychosis, including cases of gender dysphoria with schizophrenia and the occurrence of gender dysphoria symptoms during manic or psychotic episodes. The existing literature has yet to specifically examine gender dysphoria amongst individuals with schizoaffective disorder. The authors present the first documented case of a clear pattern of gender identity variations coinciding solely with psychotic episodes during schizoaffective disorder, bipolar type. The authors postulate that gender dysphoria can co-occur with other psychiatric disorders or may correspond only during acute psychosis. The distinction is critical to make to ensure accurate diagnoses regarding whether gender dysphoria is a symptom only during an acute psychotic illness, or if there is a longer-standing concern as to the patient's gender identity and assignment. This distinction then also informs how to make the most appropriate treatment recommendations. The authors address the significance of understanding each patient's individual circumstances and deem this paramount to advancing transgender and gender non-binary health equity at every level of medical attention, focusing specifically on proper physician training and direct patient care.
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St. John's wort, a non-FDA-approved over-the-counter (OTC) herbal supplement with antidepressant activity known as Hypericum perforatum, has been found to induce supraventricular tachycardia (SVT) in the absence of any underlying structural cardiac abnormality or known medical history via currently unclear pathophysiology. In this case presentation, the authors present a case of a 33-year-old female who presented with recurrent episodes of palpitations one month after initiating St. John's wort for the treatment of depression, which ultimately resolved upon cessation of the herbal supplement. Therefore, the postulated insinuating event is suspected to be the ingestion of St. John's wort. This will be the first documented case of St. John's wort-induced SVT. This case study brings into question the safety of the use of this agent as an OTC supplement for the management of depression. Further investigation is required to aid in the knowledge and understanding of the causative mechanism and to identify those patients who are at potentially heightened risks of such manifestations.
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Description Neurocysticercosis, a parasitic infection of the central nervous system (CNS) caused by the Taenia solium cestode, presents clinically with a large and diverse spectrum of symptomatology, dependent upon lesion number, locale and ensuing inflammatory response. To this date, there are only two documented cases of psychosis presenting in patients with neurocysticercosis, both of which were published in India. This case presentation depicts the first documented case of Psychotic Disorder Due to Another Medical Condition: Neurocysticercosis in the United States. The authors postulate that the atypical presentation of the neuropsychiatric instability with the aberrant recurrence of neurocysticercosis is predominantly attributable to the parasitic infection itself, along with its resultant cyst formation and inflammatory response. Further research is necessary to expand upon our knowledge and understanding of the neuropsychiatric effects and optimal management of neurocysticercosis, as well as its possible recurrent nature.
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Alcohol use disorder (AUD), a chronic condition that affects many people worldwide, is characterized most commonly by a preoccupation with alcohol, an irresistible craving for or the inability to control the consumption of alcohol, and the marked resultant disturbance it bestows upon one's life. Although a difficult and time-consuming condition to attempt to treat, there are currently three FDA-approved medications for AUD, including naltrexone, acamprosate, and disulfiram. However, literature points towards another agent, gabapentin, that may be efficacious in preventing relapse symptoms and cravings with enhanced effectivity in reducing post-hospitalization alcohol consumption behaviors. In this paper, we discuss a case presentation and literature review demonstrating the role of gabapentin in treating AUD and symptoms associated with alcohol withdrawal, along with its potential use in relapse prevention.
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Description Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) viral infection is notable for a high degree of symptom diversity. Emerging evidence suggests viral invasion of the central nervous system. Therefore, serious neurological and psychiatric manifestations are anticipated. We present the case of a 67-year-old male physician who has a history of stable bipolar disorder for decades and was recently hospitalized for persistent COVID-19 symptoms with documented positive serology. He presented with new and acute onset neuropsychiatric symptoms of disinhibition proximate to the viral infection. We postulate neuroinvasion as the putative origin of the patient's psychiatric instability. Furthermore, an investigation is needed to expand upon our understanding of the potential for neuropsychiatric morbidity related to SARS-CoV-2 for prompt diagnosis and appropriate management. There are also no current studies addressing the risks for neurological and psychiatric symptomatology in SARS-CoV-2 infected patients with persistent chronic mental illness.
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BACKGROUND: Non-operative management of the elbow, shoulder, and knee typically includes braces, such as the: static progressive stretch (SPS), turnbuckle, and dynamic. However, a paucity of literature exists comparing these three bracing modalities. Therefore, the purpose of this study was to evaluate the current literature on the various bracing modalities for physicians and patients managing elbow, shoulder, or knee joint complications. Specifically, we compared the use of 1) static progressive stretch, 2) dynamic, and 3) turnbuckle braces for the a) elbow, b) knee, and c) shoulder. MATERIALS AND METHODS: A PubMed search on dynamic, SPS, and turnbuckle bracing for the elbow, knee, and shoulder joints was performed. Studies that addressed clinical outcomes and relied primarily on the brace for improvement of patient outcomes and not on surgery were included. Because individually-fabricated braces are extremely costly, require great fabrication skill, and are unique to the patient they were specifically designed for, their results are not generalizable to the greater patient population and were, therefore, not included in this analysis. A total of 14 elbow, 24 knee, and 4 shoulder studies met criteria. RESULTS: Elbow-Patients wore the SPS brace for 90 minutes, compared to 8 hours for the turnbuckle and 20 hours for the dynamic brace. The SPS and turnbuckle brace had similar increases in range of motion (ROM) of 37°. The SPS brace was found to provide patients with the greatest reduction in flexion contracture, 26°. There are similar increases in flexion ROM between the SPS and dynamic elbow bracing modalities. Shoulder- The mean duration of use for an SPS was only six weeks compared to the two months required for the dynamic shoulder brace. The dynamic shoulder brace protocol involved upwards of 24 hours per day or night as patients were instructed to wear the brace at all times. Patients treated with both the SPS and dynamic braces had excellent pain outcomes. Knee-The most commonly followed SPS knee brace protocol was one to three sessions per day which lasted from seven to nine weeks, while for the dynamic brace the time period ranged from six to eight weeks. The SPS brace reported a mean increase in ROM of 31°. There was a lack of evidence for the dynamic and turnbuckle knee braces for their accurate assessment. The SPS studies reported the greatest response to flexion improvement with a mean increase of flexion by 22°. Meanwhile, the reported mean flexion increase with a dynamic knee brace was only 7°. CONCLUSION: Based on the most current literature available, the authors highly recommend the use of SPS for the elbow, shoulder, and knee. Static progressive stretch bracing has an easy patient protocol, a short duration of use, and excellent outcomes. Additionally, the lack of evidence for turnbuckle and dynamic braces is concerning. Overall, the static progressive stretch brace has shown excellent results in the outcomes assessed in this review and should be a first recommendation for patients suffering from elbow, knee, and/or shoulder pathology.