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BMJ Case Reports Jun 2024Nausea and vomiting during pregnancy are very common; however, when persistent symptoms lead to severe malnutrition, other conditions should be considered. We present a...
Nausea and vomiting during pregnancy are very common; however, when persistent symptoms lead to severe malnutrition, other conditions should be considered. We present a patient with severe postprandial nausea and vomiting resulting in 120 lb weight loss. She was treated for presumed hyperemesis gravidarum but diagnosed with achalasia type 1 upon further work-up. The pregnancy was further complicated by fetal growth restriction, shortened cervix and preterm premature rupture of membranes, and resulted in delivery at 26 weeks of gestation. Postpartum, she underwent a peroral endoscopic procedure and has returned to normal body mass index.The differential for nausea/vomiting is broad, and major medical conditions can manifest for the first time during pregnancy. Severe malnutrition adversely affects maternal and fetal health. Further work-up should be pursued when symptoms cannot otherwise be explained.
Topics: Humans; Female; Pregnancy; Esophageal Achalasia; Adult; Pregnancy Complications; Vomiting; Nausea; Diagnosis, Differential; Hyperemesis Gravidarum
PubMed: 38914522
DOI: 10.1136/bcr-2023-258792 -
BMJ Neurology Open 2024Dystonia is a genetic or non-genetic movement disorder with typical patterned and twisting movements due to abnormal muscle contractions that may be associated with...
BACKGROUND
Dystonia is a genetic or non-genetic movement disorder with typical patterned and twisting movements due to abnormal muscle contractions that may be associated with tremor. Genetic and phenotypic heterogeneity leads to variable clinical presentation.
METHODOLOGY
Next-generation sequencing technologies are being currently used in the workup of patients with inherited dystonia to determine the specific cause in the individuals with autosomal dominant, recessive, X-linked or mitochondrial inheritance patterns. Calcium voltage-gated channel subunit alpha1 A (CACNA1A) gene variants are rare in dystonias.
RESULTS
We here present a 20-year-old man with a history of delayed milestones, flexor posturing, dysarthria, dysphagia and a negative family history from consanguineous parents. Neurological examination revealed right lateral scoliosis of the neck and generalised dystonic posturing affecting both upper and lower limbs. MRI of the brain was unremarkable. Molecular genetic results revealed a heterozygous variant in the CACNA1A gene (CHR19: NM_023035.2, c. 1602G>A; p. Met534Ile). Segregation analyses in both the parents revealed wild-type CACNA1A gene suggesting de novo nature of the variant with a likely pathogenic classification.
CONCLUSION
Dystonia is one of the clinical phenotypes that can be associated with CACNA1A gene mutations and we recommend that this gene either be included in the dystonia panel offered or tested when the initial primary genetic result is negative.
PubMed: 38912174
DOI: 10.1136/bmjno-2024-000710 -
Clinical Interventions in Aging 2024Stroke-associated pneumonia (SAP) usually complicates stroke and is linked to adverse prognoses. Triglycerides, total cholesterol, and body weight index (TCBI) is a new...
PURPOSE
Stroke-associated pneumonia (SAP) usually complicates stroke and is linked to adverse prognoses. Triglycerides, total cholesterol, and body weight index (TCBI) is a new and simple calculated nutrition index. This study seeks to investigate the association between TCBI and SAP incidence, along with its predictive value.
PATIENTS AND METHODS
Nine hundred and sixty-two patients with acute ischemic stroke were divided into SAP group and Non-SAP group. The TCBI was divided into three layers: T1, TCBI < 948.33; T2, TCBI 948.33-1647.15; T3, TCBI > 1647.15. Binary Logistic regression analysis was used to determine the relationship between TCBI levels and the incidence of SAP. Furthermore, restricted cubic splines (RCS) analysis was utilized to evaluate the influence of TCBI on the risk of SAP.
RESULTS
TCBI in the SAP group was markedly lower compared to that in the Non-SAP group ( < 0.001). The Logistic regression model revealed that, using T3 layer as the reference, T1 layer had the highest risk for SAP prevalence (OR = 2.962, 95% CI: 1.600-5.485, = 0.001), with confounding factors being controlled. The RCS model found that TCBI had a linear relationship with SAP ( for nonlinear = 0.490, for overall = 0.004). Moreover, incorporating TCBI into the ADS (Age, atrial fibrillation, dysphagia, sex, and severity) model substantially enhanced the initial model's predictive accuracy.
CONCLUSION
Low TCBI was associated with a higher risk of SAP. In clinical practice, TCBI has shown predictive value for SAP, contributing to early intervention and treatment of SAP.
Topics: Humans; Male; Female; Aged; Ischemic Stroke; Middle Aged; Pneumonia; Triglycerides; Cholesterol; Logistic Models; Risk Factors; Body Weight; Incidence; Retrospective Studies; Aged, 80 and over; Body Mass Index
PubMed: 38911675
DOI: 10.2147/CIA.S467577 -
Journal of Neuroendovascular Therapy 2024To report the rare case of a patient with a perianeurysmal cyst following stent-assisted coil embolization of an unruptured vertebral artery aneurysm.
OBJECTIVE
To report the rare case of a patient with a perianeurysmal cyst following stent-assisted coil embolization of an unruptured vertebral artery aneurysm.
CASE PRESENTATION
A 63-year-old woman underwent stent-assisted coil embolization for an unruptured vertebral artery aneurysm embedded in the brainstem (pons). Complete occlusion of the aneurysm was successfully achieved. However, subsequent magnetic resonance imaging (MRI) conducted 8 months after the procedure showed perilesional edematous changes surrounding the aneurysm, and at 20 months, cyst formation was observed in the vicinity of the aneurysm. Progressive enlargement of the cyst eventually led to the development of paralysis and dysphagia, necessitating cyst fenestration surgery. Although postoperative reduction in the cyst size was achieved, the patient experienced complications in the form of aspiration pneumonia and bacterial meningitis, which resulted in a life-threatening condition.
CONCLUSION
Aneurysms embedded in the brain parenchyma should be carefully followed up, recognizing the risk of perianeurysmal cyst formation after coil embolization.
PubMed: 38911484
DOI: 10.5797/jnet.cr.2023-0088 -
SAGE Open Medical Case Reports 2024Pancreatitis can produce several complications such as pseudocyst, which can happen in acute and chronic pancreatitides. Pseudocysts are typically found in the abdomen...
Pancreatitis can produce several complications such as pseudocyst, which can happen in acute and chronic pancreatitides. Pseudocysts are typically found in the abdomen but can rarely extend into the mediastinum. Atypical symptoms such as dyspnea, dysphagia, coughing, vomiting, abdominal or chest pain, and hemoptysis are usually the notable complaints. CT scan, MRI, and endoscopic ultrasound are valuable diagnostic modalities. Drainage and surgical removal of the pseudocyst are the treatment options. Herein, we outline the case of a young female with episodic chest and epigastric discomfort, dysphagia, and weight loss. Previously, she was incorrectly diagnosed with gastroesophageal reflux disease and peptic ulcer. A mediastinal pseudocyst secondary to chronic pancreatitis was found to be the cause. The patient underwent surgical removal of the pseudocyst and a pancreaticojejunostomy. Significant improvement was noticed at follow-up. This article highlights the possibility of such unusual conditions and the importance of a proper assessment while treating patients with epigastric pain.
PubMed: 38911178
DOI: 10.1177/2050313X241262139 -
Journal of Scleroderma and Related... Jun 2024Increasing evidence supports the presence of cognitive impairment in patients with systemic sclerosis. Malnutrition is a well-known severe complication of systemic...
BACKGROUND
Increasing evidence supports the presence of cognitive impairment in patients with systemic sclerosis. Malnutrition is a well-known severe complication of systemic sclerosis and is a consequence of multiple factors, mainly oropharyngeal and gastrointestinal involvement. Recent studies have shown a link between nutrition and cognitive decline in several chronic diseases. Thus, we decided to evaluate a possible association between malnutrition and cognitive impairment in patients with systemic sclerosis.
METHODS
In total, 100 consecutive systemic sclerosis patients were enrolled in a cross-sectional study to assess clinical and demographic features, nutritional status (body mass index, Global Leadership Initiative on Malnutrition criteria), gastrointestinal involvement (University of California Los Angeles Gastrointestinal Scale 2.0, Eat Assessment Tool 10), cognitive function (Montreal Cognitive Assessment), anxiety and depression (Patient Health Questionnaire 9, Beck Depression Inventory II), and quality of life (Short Form 36, Health Assessment Questionnaire-Disability Index, Scleroderma Health Assessment Questionnaire). Patients were stratified for the presence/absence of malnutrition and cognitive decline and compared for clinical characteristics and quality-of-life measures.
RESULTS
Half of the patients had cognitive impairment (Montreal Cognitive Assessment < 26). These patients were older, had more comorbidities, and a significantly worse quality of life. There were no statistically significant associations with body mass index, malnutrition, and gastrointestinal involvement. About one-third of patients had clinically relevant malnutrition. They were older, had higher skin score, lung and esophageal involvement. They also showed significantly worse scores for dysphagia, gastrointestinal symptoms, functional disability, and quality of life. Gastrointestinal symptoms and dysphagia, but not body mass index and Montreal Cognitive Assessment, were significantly associated with depression scores, which in turn were negatively associated to quality-of-life measures. With regression analysis, cognitive impairment was predicted only by age, whereas malnutrition was significantly associated with age, dysphagia, and modified Rodnan skin scores.
CONCLUSION
In this study, we showed that cognitive impairment and malnutrition are not directly linked but are both independently associated with greater functional disability and worse quality of life of patients with systemic sclerosis. Early recognition of these comorbidities is therefore pivotal to better address the chronic needs of patients affected by this disease.
PubMed: 38910598
DOI: 10.1177/23971983231224522 -
Journal of Voice : Official Journal of... Jun 2024To investigate the clinical characteristics and prognosis of herpes zoster laryngitis with vocal fold immobility.
OBJECTIVE
To investigate the clinical characteristics and prognosis of herpes zoster laryngitis with vocal fold immobility.
STUDY DESIGN
Retrospective study.
METHODS
Clinical characteristics, laryngeal signs on strobolaryngoscopy, imaging examination findings, and outcomes of patients were analyzed retrospectively.
RESULTS
This study included 17 patients (11 males [64.7%] and six females [35.3%]), with a mean age of 63.3 ± 6.7 years. The primary symptoms were hoarseness (94.1%), dysphagia (76.5%), pharyngalgia on one side (76.5%), and aspiration (70.6%). No patient had skin herpes of the head and neck. The duration of symptoms was 5-30 days (median: 10 days). Twelve patients (70.6%) were in an immunocompromised state before the disease. Strobolaryngoscopy showed congestion and swelling of the mucosa on one side of the larynx, with whitish eruptions on the supraglottic mucosa and ipsilateral vocal fold immobility. Five patients (29.4%) exhibited signs of ipsilateral accessory nerve injury. The imaging examination showed supraglottic inflammatory changes in 12 patients (70.6%). Among the 14 patients whose treatment could be clearly described, only one patient received antiviral treatment, whereas others received neurotrophic and symptomatic treatment. Notably, all patients demonstrated good outcomes because their symptoms eventually returned to normal.
CONCLUSION
Herpes zoster laryngitis is caused by varicella-zoster virus infection of the vagus nerve. It is characterized by laryngeal herpetic changes on one side and unilateral vocal fold immobility. The inducement of the disease tends to be associated with the abnormal immune state of patients. It can be easily misdiagnosed because of the absence of skin herpetic changes. Regardless of antiviral therapy, patients generally exhibit a favorable outcome.
PubMed: 38906743
DOI: 10.1016/j.jvoice.2024.05.020 -
Endoscopy Dec 2024
Topics: Humans; Suture Techniques; Esophageal Achalasia; Myotomy; Natural Orifice Endoscopic Surgery; Male; Female; Gastroscopy
PubMed: 38906173
DOI: 10.1055/a-2334-2750 -
Medicine Jun 2024This study aimed to characterize the risk factors, etiology, clinical manifestations, anatomical characteristics, stroke mechanisms, imaging features, and prognosis of... (Observational Study)
Observational Study
This study aimed to characterize the risk factors, etiology, clinical manifestations, anatomical characteristics, stroke mechanisms, imaging features, and prognosis of bilateral medial medullary infarction (BMMI). A retrospective analysis was conducted on 11 patients with BMMI who met the inclusion criteria at the Affiliated Hospital of Xuzhou Medical University from January 2013 to January 2023. The patients' imaging and clinical features were analyzed and summarized. Eleven patients (7 male, 4 female), aged 46 to 62 years, met the inclusion criteria. Common clinical presentations included dysarthria (90.9%), dysphagia (90.9%), quadriplegia (81.8%), and so on. Within 72 hours of onset, 8 cases presented with quadriplegia, 2 cases with hemiplegia, and 1 case without limb paralysis. The main risk factor for BMMI was hypertension, followed by diabetes. "Heart appearance" infarcts occurred in 4 cases (36.4%), while "Y appearance" infarcts occurred in 7 cases (63.6%). Among the patients, 3 had unilateral vertebral artery stenosis or occlusion, 5 had bilateral vertebral artery stenosis or occlusion, 2 had normal vertebral basilar artery, and 1 did not undergo cerebrovascular examination. All patients received standardized treatment for cerebral infarction. The prognosis was poor, with 81.8% of patients having an unfavorable outcome, including 1 death, 9 cases of disability, and only 1 patient achieving self-care ability after recovery. BMMI is more prevalent in males aged 45 to 60 years. The main risk factors are hypertension and diabetes. Atherosclerosis is the primary etiological subtype. The main clinical manifestations are dyskinesia, dizziness, quadriplegia, and dysarthria. The prognosis of BMMI is poor. The specific imaging features of "heart appearance" or "Y appearance" infarcts aid in the diagnosis of BMMI.
Topics: Humans; Male; Female; Middle Aged; Retrospective Studies; Medulla Oblongata; Brain Stem Infarctions; Risk Factors; Prognosis; Quadriplegia; Hypertension
PubMed: 38905383
DOI: 10.1097/MD.0000000000038336 -
Case Reports in Surgery 2024An epiphrenic diverticulum (ED) is a rare pseudodiverticulum commonly located at the lower end of the oesophagus. Surgical treatment is only required in patients with...
An epiphrenic diverticulum (ED) is a rare pseudodiverticulum commonly located at the lower end of the oesophagus. Surgical treatment is only required in patients with worsening dysphagia or repeated chest infection due to microaspirations, and most patients are now treated with minimally invasive surgery (MIS) using the laparoscopic or thoracoscopic approach. Laparoscopic surgery is considered difficult in the presence of previous perforation of the diverticula owing to the intraperitoneal and mediastinal adhesions and is associated with an increased incidence of complications. We were able to perform a laparoscopic transhiatal resection safely on a patient who had a large ED with a wide neck and dense abdominal and mediastinal adhesions due to previous localized perforation.
PubMed: 38903609
DOI: 10.1155/2024/3556567