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1.
BMC Neurol ; 24(1): 118, 2024 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-38600450

RESUMO

BACKGROUND: Syncope is a common condition that increases the risk of injury and reduces the quality of life. Abdominal pain as a precursor to vasovagal syncope (VVS) in adults is rarely reported and is often misdiagnosed.​. METHODS: We present three adult patients with VVS and presyncopal abdominal pain diagnosed by synchronous multimodal detection (transcranial Doppler [TCD] with head-up tilt [HUT]) and discuss the relevant literature. RESULTS: Case 1: A 52-year-old man presented with recurrent decreased consciousness preceded by six months of abdominal pain. Physical examinations were unremarkable. Dynamic electrocardiography, echocardiography, head and neck computed tomography angiography, magnetic resonance imaging (MRI), and video electroencephalogram showed no abnormalities. Case 2: A 57-year-old woman presented with recurrent syncope for 30 + years, accompanied by abdominal pain. Physical examination, electroencephalography, and MRI showed no abnormalities. Echocardiography showed large right-to-left shunts. Case 3: A 30-year-old woman presented with recurrent syncope for 10 + years, with abdominal pain as a precursor. Physical examination, laboratory analysis, head computed tomography, electrocardiography, and echocardiography showed no abnormalities. Syncope secondary to abdominal pain was reproduced during HUT. Further, HUT revealed vasovagal syncope, and synchronous TCD showed decreased cerebral blood flow; the final diagnosis was VVS in all cases. CONCLUSIONS: Abdominal pain may be a precursor of VVS in adults, and our findings enrich the clinical phenotypic spectrum of VVS. Prompt recognition of syncopal precursors is important to prevent incidents and assist in treatment decision-making. Abdominal pain in VVS may be a sign of sympathetic overdrive. Synchronous multimodal detection can help in diagnosing VVS and understanding hemodynamic mechanisms.


Assuntos
Síncope Vasovagal , Masculino , Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Síncope Vasovagal/diagnóstico , Síncope Vasovagal/diagnóstico por imagem , Teste da Mesa Inclinada/métodos , Qualidade de Vida , Frequência Cardíaca , Síncope/complicações
2.
Medicine (Baltimore) ; 102(41): e35467, 2023 Oct 13.
Artigo em Inglês | MEDLINE | ID: mdl-37832053

RESUMO

RATIONALE: Anesthetic management during resection of pheochromocytoma is a huge challenge, especially when accompanied by dilated cardiomyopathy (DCM). However, there is a lack of research evidence in this area. PATIENT CONCERNS: A 36-year-old man was admitted with a left retroperitoneal space-occupying lesion, present for 2 years. The patient also had DCM for 2 years. Blood analysis on admission showed elevated levels of norepinephrine and the N-terminus of the brain natriuretic peptide precursor. Abdominal computed tomography revealed a circular shadow in the left adrenal area. Echocardiography showed a cardiac ejection fraction of 31% to 37%, markedly enlarged left atrium and left ventricle, extensive cardiac hypokinesia, and reduced left ventricular diastolic and systolic functions. DIAGNOSES: The preoperative diagnosis was left paraganglioma/pheochromocytoma with DCM. INTERVENTIONS: Multidisciplinary consultation, blood pressure measurements, and volume expansion measurements were performed preoperatively. Invasive arterial blood pressure, central venous pressure, depth of anesthesia, cardiac function, left heart volume, and body temperature were monitored intraoperatively. OUTCOMES: The adrenal pheochromocytoma was successfully removed, and the patient recovered well. LESSONS: The anesthetic management for adrenal pheochromocytoma resection in adult patients with DCM is extremely high-risk but is evidently not impossible. Adequate preoperative evaluation and preparation, optimization of the anesthesia induction plan, close intraoperative monitoring of cardiac function and hemodynamic changes, and robot-assisted laparoscopic technology are the key success factors. The challenges to anesthetic management may be partly prevented with invasive monitoring techniques and minimally invasive surgery. This case confirms the importance of individual management and multidisciplinary cooperation for a successful outcome.


Assuntos
Neoplasias das Glândulas Suprarrenais , Anestesia , Anestésicos , Cardiomiopatia Dilatada , Laparoscopia , Feocromocitoma , Robótica , Masculino , Adulto , Humanos , Cardiomiopatia Dilatada/complicações , Cardiomiopatia Dilatada/cirurgia , Feocromocitoma/complicações , Feocromocitoma/cirurgia , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/cirurgia , Anestesia/métodos
3.
J Orthop Surg Res ; 18(1): 253, 2023 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-36978138

RESUMO

OBJECTIVE: The relationship between the preoperative red blood cell distribution width and postoperative pneumonia in elderly patients with hip fractures remains unclear. This study investigated whether the preoperative red blood cell distribution width was associated with postoperative pneumonia in elderly patients with hip fractures. METHODS: Clinical data of patients with hip fractures in the Department of orthopedics of a hospital from January 2012 to December 2021 were retrospectively analyzed. A generalized additive model was used to identify both linear and nonlinear relationships between red blood cell distribution width and postoperative pneumonia. A two-piecewise linear regression model was used to calculate the saturation effect. Subgroup analyses were performed using stratified logistic regression. RESULTS: This study included a total of 1444 patients. The incidence of postoperative pneumonia was 6.30% (91/1444), the mean age of the patients was 77.55 ± 8.75 years, and 73.06% of them (1055/1444) were female. After full adjustment for covariates, the preoperative red blood cell distribution width showed a nonlinear relationship with postoperative pneumonia. The two-piecewise regression model showed an inflection point at 14.3%. On the left side of the inflection point, the incidence of postoperative pneumonia increased by 61% for every 1% increase in red blood cell distribution width (OR: 1.61, 95% CI 1.13-2.31, P = 0.0089). The effect size was not statistically significant on the right side of the inflection point (OR: 0.83, 95% CI 0.61-1.12, P = 0.2171). CONCLUSION: The relationship between preoperative red blood cell distribution width and incidence or postoperative pneumonia was nonlinear in elderly patients with hip fractures. The incidence of postoperative pneumonia was positively correlated with red blood cell distribution width when it was < 14.3%. A saturation effect was observed when the red blood cell distribution width reached 14.3%.


Assuntos
Fraturas do Quadril , Pneumonia , Humanos , Feminino , Idoso , Idoso de 80 Anos ou mais , Masculino , Estudos Retrospectivos , Fraturas do Quadril/epidemiologia , Pneumonia/epidemiologia , Pneumonia/etiologia , Eritrócitos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Fatores de Risco
4.
Front Neurol ; 13: 1007435, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36212658

RESUMO

The highly lethal cryptogenic brain abscess can be easily misdiagnosed. However, cryptogenic brain abscess caused by Providencia rettgeri is rarely reported. We present the case of a cryptogenic Providencia rettgeri brain abscess and analyze the clinical manifestations, imaging findings, treatment, and outcome to improve the level of awareness, aid in accurate diagnosis, and highlight effective clinical management. A 39-year-old man was admitted to the hospital after experiencing acute speech and consciousness disorder for 1 day. The patient had a medical history of nephrotic syndrome and membranous nephropathy requiring immunosuppressant therapy. Magnetic resonance imaging revealed giant, space-occupying lesions involving the brain stem, basal ganglia, and temporal-parietal lobes without typical ring enhancement, mimicking a tumor. Initial antibiotic treatment was ineffective. Afterward, pathogen detection in cerebrospinal fluid using metagenomic next-generation sequencing revealed Providencia rettgeri. Intravenous maximum-dose ampicillin was administered for 5 weeks, and the patient's symptoms resolved. Cryptogenic Providencia rettgeri brain abscess typically occurs in patients with impaired immunity. Our patient exhibited a sudden onset with non-typical neuroimaging findings, requiring differentiation of the lesion from stroke and brain tumor. Metagenomic next-generation sequencing was important in identifying the pathogen. Rapid diagnosis and appropriate use of antibiotics were key to obtaining a favorable outcome.

5.
Int J Dev Neurosci ; 82(1): 96-103, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34708882

RESUMO

MN1 C-terminal truncation (MCTT) syndrome is a newly recognized neurodevelopmental disorder due to heterozygous gain-of-function C-terminal truncating mutations clustering in the last or penultimate exon of MN1 gene (MIM: 156100). Up to date, only 25 affected patients have been reported. Here, we report a 2-year-old Chinese girl with MCTT syndrome. The girl presented with the characteristic features of the syndrome, including global developmental delay (GDD), facial dysmorphism and hearing impairment. Notably, the patient did not have other frequently observed symptoms such as hypotonia, cranial or brain abnormalities, indicating variability of the phenotype of patients with MN1 C-terminal truncating mutations. Trio whole-exome sequencing revealed a novel de novo heterozygous nonsense variant in the extreme 3' region of penultimate exon of MN1 (NM_002430.3: c.3743G > A, p.Trp1248*). This rare truncating variant was classified as pathogenic due to its predicted gain-of-function effect, given that the gain-of-function MN1 truncating variants producing C-terminally truncated proteins have been confirmed to cause the recognizable syndrome. Additionally, a systematic review of previously reported MN1 variants including C-terminal truncating variants and N-terminal truncating variants shows that different location of MN1 truncating variants causes two distinct clinical subtypes. To our knowledge, this is the first reported case of MCTT syndrome caused by a novel MN1 C-terminal truncating variant in a Chinese population, which enriched the mutation spectrum of MN1 gene and further supporting the association of the novel MCTT syndrome with MN1 C-terminal truncating variants.


Assuntos
Transativadores , Proteínas Supressoras de Tumor , China , Éxons/genética , Humanos , Mutação/genética , Fenótipo , Transativadores/genética , Proteínas Supressoras de Tumor/genética , Sequenciamento do Exoma
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