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1.
Sci Rep ; 14(1): 1101, 2024 01 11.
Artigo em Inglês | MEDLINE | ID: mdl-38212353

RESUMO

Huntington's disease (HD) is increasingly recognized for diverse pathology outside of the nervous system. To describe the biology of HD in relation to functional progression, we previously analyzed the plasma and CSF metabolome in a cross-sectional study of participants who had various degrees of functional impairment. Here, we carried out an exploratory study in plasma from HD individuals over a 3-year time frame to assess whether differences exist between those with fast or absent clinical progression. There were more differences in circulating metabolite levels for fast progressors compared to absent progressors (111 vs 20, nominal p < 0.05). All metabolite changes in faster progressors were decreases, whereas some metabolite concentrations increased in absent progressors. Many of the metabolite levels that decreased in the fast progressors were higher at Screening compared to absent progressors but ended up lower by Year 3. Changes in faster progression suggest greater oxidative stress and inflammation (kynurenine, diacylglycerides, cysteine), disturbances in nitric oxide and urea metabolism (arginine, citrulline, ornithine, GABR), lower polyamines (putrescine and spermine), elevated glucose, and deficient AMPK signaling. Metabolomic differences between fast and absent progressors suggest the possibility of predicting functional decline in HD, and possibly delaying it with interventions to augment arginine, polyamines, and glucose regulation.


Assuntos
Doença de Huntington , Humanos , Doença de Huntington/metabolismo , Estudos Transversais , Poliaminas , Arginina , Glucose , Progressão da Doença
2.
Ann Clin Psychiatry ; 35(2): 118-130, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-37074970

RESUMO

BACKGROUND: Emerging literature supports the association between acute COVID-19 infection and neuropsychiatric complications. This article reviews the evidence for catatonia as a potential neuropsychiatric sequela of COVID-19 infection. METHODS: PubMed was searched using the terms catatonia, severe acute respiratory syndrome coronavirus 2, and COVID-19. Articles were limited to those published in the English language between 2020 and 2022. Forty-five articles that specifically studied catatonia associated with acute COVID-19 infection were screened. RESULTS: Overall, 30% of patients with severe COVID-19 infection developed psychiatric symptoms. We found 41 cases of COVID-19 and catatonia, with clinical presentations that varied in onset, duration, and severity. One death was reported in a case of catatonia. Cases were reported in patients with and without a known psychiatric history. Lorazepam was successfully used, along with electroconvulsive therapy, antipsychotics, and other treatments. CONCLUSIONS: Greater recognition and treatment of catatonia in individuals with COVID-19 infection is warranted. Clinicians should be familiar with recognizing catatonia as a potential outcome of COVID-19 infection. Early detection and appropriate treatment are likely to lead to better outcomes.


Assuntos
COVID-19 , Catatonia , Eletroconvulsoterapia , Transtornos Mentais , Humanos , Catatonia/epidemiologia , Catatonia/etiologia , Catatonia/terapia , Prevalência , Lorazepam/uso terapêutico , Transtornos Mentais/tratamento farmacológico
4.
J Complement Integr Med ; 19(4): 827-832, 2022 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-34463076

RESUMO

Mind-body therapies (MBTs), such as mindfulness, meditation, yoga, and tai-chi, are said to improve quality of life by contributing to positive thinking and reducing overall distress. MBTs not only play a role in reducing stress and anxiety, but they are also found to epigenetically affect genes and other areas in our genomes that are implicated in inflammation, stress, and distress. This review analyzes the role of MBTs in reducing the epigenetic changes as reported in five previously conducted controlled studies found in the NCBI PubMed database. The methylation of the tumor necrosis factor gene, implicated in psychological distress, was shown to significantly decrease for the women who performed yoga. For people who took part in mindfulness meditation, there was a significant alteration in a variety of modifications of histone deacetylase enzymes as well as their expression patterns when compared to the control group. Other studies found that long-term meditators had slower biomarkers of aging, known as epigenetic clocks, and methylation in genes associated with immune cell metabolism and inflammation. Different genomic regions known as CpG dinucleotide sites ("CpG islands") were also found to be epigenetically altered in participants of tai-chi. These controlled studies were promising evidence on the potential of MBTs to affect the epigenetics of an individual. This information will be useful in diagnostic, therapeutic, and preventative measures, and can be an addition to western medicine, in a way that is more holistic and beneficial to the individual.

5.
Int J Surg Case Rep ; 17: 155-7, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26629852

RESUMO

INTRODUCTION: Rapunzel syndrome is a unique clinical manifestation of trichotillomania and trichophagia. The resulting gastric trichobezoar can be massive and necessitate surgical extraction. PRESENTATION OF CASE: We present a case involving a 15 year-old female with a known history of trichotillomania. The patient possessed symptoms of nausea and early satiety, and admitted that she had recently consumed a large number of hair extensions. Computed tomography imaging revealed a massive gastric bezoar not amenable to endoscopic extraction. The patient underwent surgical laparotomy, and a large gastric trichobezoar was removed through an anterior gastrotomy. The trichobezoar extended past the pylorus into the duodenum, thus confirming a diagnosis of Rapunzel syndrome. DISCUSSION: Trichobezoars formed from the consumption of hair extensions is a rare cause of Rapunzel syndrome. Surgical extraction is often necessitated due to the sheer size of the gastric bezoar that results from consuming hair extensions. If not previously established, psychiatric consultation should be pursued in the immediate post-operative course as these patients may require pharmacologic management along with behavioral therapy to avoid further episodes of trichotillomania. CONCLUSION: This case presents a unique and modern manifestation of Rapunzel syndrome. Surgical treatment most often is required when a patient presents with a massive gastric trichobezoar. Regular post-operative psychiatric follow-up is necessary to prevent recurrent episodes.

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