unclear etiology
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2022 ◽  
Vol 24 (1) ◽  
Author(s):  
Huanhuan Jia ◽  
Meili Chen ◽  
Yanzhen Cai ◽  
Xiaoling Luo ◽  
Gang Hou ◽  
...  

Abstract Background Ankylosing spondylitis is a progressive, disabling joint disease that affects millions worldwide. Given its unclear etiology, studies of ankylosing spondylitis relied heavily on drug-induced or transgenic rodent models which retain only partial clinical features. There is obviously a lack of a useful disease model to conduct comprehensive mechanistic studies. Methods We followed a group of cynomolgus monkeys having joint lesions reported of spinal stiffness for 2 years by conducting hematological testing, radiographic examination, family aggregation analysis, pathological analysis, and genetic testing. Results The results confirmed that these diseased animals suffered from spontaneous ankylosing spondylitis with clinical features recapitulating human ankylosing spondylitis disease progression, manifested by pathological changes and biochemical indicators similar to that of ankylosing spondylitis patients. Conclusion The study offers a promising non-human primate model for spontaneous ankylosing spondylitis which may serve as an excellent substitute for its pre-clinical research.


2021 ◽  
Vol 12 ◽  
pp. 626
Author(s):  
Raj Thakrar ◽  
Bruce Tranmer ◽  
Paul Penar

Background: Interdural cysts are rare meningeal cysts with an unclear etiology. They are often mistaken for other mass lesions, including arachnoid cysts and tumors. Correctly identifying and classifying these cysts, as well as how they have formed in individual patients, are crucial to providing effective treatment options for patients. Case Description: We report a case of a patient with shunted idiopathic intracranial hypertension who developed a symptomatic Chiari malformation and was subsequently discovered to have a spinal interdural cyst. The Chiari malformation was likely due to intracranial hypotension secondary to lumbar cerebrospinal fluid (CSF) diversion. Once the shunt was removed, a spinal interdural cyst became clinically and radiographically evident, and the Chiari resolved, suggesting that both entities were effects of shared CSF flow dynamics. Conclusion: This cyst likely originated due to the trauma from remote repeated lumbar punctures and lumboperitoneal shunt placement, allowing CSF to enter the interdural space after the catheter was removed.


Life ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 1402
Author(s):  
Roberto Cannataro ◽  
Sandro Michelini ◽  
Lorenzo Ricolfi ◽  
Maria Cristina Caroleo ◽  
Luca Gallelli ◽  
...  

Lipedema is a pathology of adipose tissue, still of unclear etiology and challenging to diagnose. For these reasons, a therapeutic approach is also complex and sometimes controversial. The inflammation state present in lipedema can be limited by controlling the glycemic peaks. Specifically, the ketogenic diet (KD) seems to have the right conditions to be effective. Herein, we reported a subject diagnosed with lipedema who, with only KD nutritional intervention, achieved a significant weight loss (−41 Kg), with a net decrease in body circumferences, and also reporting an improvement in pain, and therefore in the overall quality of life. She refused other types of intervention and kept KD for two years. This case could represent the first step to organize a KD nutritional protocol specifically applied to lipedema.


Author(s):  
D. I. Sadykova ◽  
T. P. Makarova ◽  
A. R. Shakirova ◽  
R. M. Sayfullina ◽  
R. D. Sayfieva ◽  
...  

Idiopathic hemosiderosis of lung tissue is a rare disease with lung damage caused by massive hemorrhage into the lung tissue, with iron-containing hemosiderin deposition. Mainly it occurs in childhood. The article describes the clinical case of idiopathic hemosiderosis of lung tissue in a 3 years 11 months old child. The girl was observed for anemia of unclear etiology, she was repeatedly treated at a hospital and received erythrocyte transfusions. In the future, respiratory syndrome joined the anemic syndrome. It should be noted that a correctly collected anamnesis, timely diagnosis of the disease and the appointment of immunosuppressive therapy make it possible to prevent the rapid progression of the process and the development of complications, including pneumosclerosis.


POCUS Journal ◽  
2021 ◽  
Vol 6 (2) ◽  
pp. 60-63
Author(s):  
Trent Mazer ◽  
Karam Nabeel Gagi ◽  
Michael Bishop

Elastofibroma dorsi (ED) is an uncommon, benign, slow-growing soft tissue tumor with an unclear etiology. The growth often presents as a local deformity with mild pain or discomfort in the subscapular region of geriatric populations. The following paper discusses a 73 year old female with mildly painful ED who presented to her primary care physician. We further review current literature on epidemiology, utilization of point of care ultrasound (POCUS) and treatment options.


2021 ◽  
Vol 7 (11) ◽  
pp. 189-194

Research relevance: in recent decades, there has been a significant increase in interest in cardiomyopathies, mainly of the heart muscle, often characterized by an unclear etiology, chronic progressive course and, ultimately, cardiomegaly, progressive heart failure, arrhythmic, thromboembolic syndromes, often ending in sudden cardiac death. Materials and research methods: presentation of results after statistical studies on the clinic, diagnostics of a violation of the conducting system by cardiomyopathy in children aged 1 to 16 years, who underwent inpatient treatment in the cardioreumatology department of the Osh medical children’s clinical hospital from 2016 to 2020, according to clinical material on 67 children with dilated cardiomyopathy. Research objectives: analysis of data on 67 children from 0 to 16 years old who received inpatient treatment for heart disease at the Osh interregional children's clinical hospital from 2016 to 2020. Research results: analysis of the EchoCG data of the study showed that the nature of changes in intracardiac hemodynamics depends on the age of the child: the most pronounced shifts in EchoCG indicators, as a rule, are inherent in young children with inflammatory changes in the myocardium and dilated cardiomyopathy, less pronounced for children of other age groups. Conclusions: indicators reflect severe degree of heart damage in children of this age and indicate, most likely, a weak level of heart compensatory-adaptive mechanisms.


2021 ◽  
Vol 12 ◽  
Author(s):  
Andreas Rogalewski ◽  
Anne Beyer ◽  
Anja Friedrich ◽  
Jorge Plümer ◽  
Frédéric Zuhorn ◽  
...  

Background: Transient global amnesia (TGA) is defined by an acute memory disturbance of unclear etiology for a period of less than 24 h. TGA occurs as a single event in most cases. Prevalence rates of recurrent TGA vary widely from 5.4 to 27.1%. This retrospective study aimed to determine predictors for TGA recurrence.Methods: Cardiovascular risk profile and magnetic resonance imaging (MRI) of 340 hospitalized TGA patients between 2011 and 2020 were retrospectively analyzed. The median follow-up period amounted to 4.5 ± 2.7 years. Comparisons were made between TGA patients with and without subsequent recurrence.Results: TGA patients with subsequent recurrence were significantly younger (recurrent vs. single episode, 63.6 ± 8.6 years vs. 67.3 ± 10.5 years, p = 0.032) and showed a lower degree of cerebral microangiopathy compared to TGA patients without recurrence. The mean latency to recurrence was 3.0 years ± 2.1 years after the first episode. In a subgroup analysis, patients with at least five years of follow-up (N = 160, median follow-up period 7.0 ± 1.4 years) had a recurrence rate of 11.3%. A 24.5% risk of subsequent TGA recurrence in the following five years was determined for TGA patients up to 70 years of age without microangiopathic changes on MRI (Fazekas' score 0).Conclusion: Younger TGA patients without significant microangiopathy do have an increased recurrence risk. In turn, pre-existing cerebrovascular pathology, in the form of chronic hypertension and cerebral microangiopathy, seems to counteract TGA recurrence.


2021 ◽  
Author(s):  
José Guillermo Buendía Pazarán ◽  
Edgar Hernández Zamora ◽  
Armando Odiseo Rodríguez-Olivas ◽  
Leonora Casas Ávila ◽  
Margarita Valdés Flores ◽  
...  

Abstract Background: Legg-Calvé-Perthes disease (LCPD) is an avascular osteonecrosis of the femoral epiphysis. It is a rare disease of unclear etiology in children. Alterations in coagulation, or the collagen gene have been described and could be associated with its etiology. Therefore, we set out to evaluate the following alterations: COL1A1 (rs1107946, rs2412298), COL2A1 (rs121912891 and rs387106558), MTHFR rs1801133, CBS rs115742905, and PT rs1799963 and their relationship with LCPD.Methods: DNA was obtained and genotyped by real-time PCR with TaqMan probes. It was determined prothrombin and homocysteine (Hcy) by a coagulometric method. The variables were described as mean and standard deviation or percentages, and genotypic and allelic distributions were analyzed using the Student's t-test. In addition, the Hardy-Weinberg equilibrium, and OR.Results: We studied 23 patients with LCPD and 46 controls. We did not find any association of the MTHFR, CBS, PT, COL1A1, and COL2A1 genetic variants with LCPD. However, when adjusting the data with the Hcy values for the MTHFR C677T polymorphism, the C/C genotypes showed an association with the recessive model (p = 0.038) with susceptibility to LCPD.Conclusion: No association was found with the CBS, PT, COL1A1, and COL2A1 genes. Nevertheless, our results suggest a significant link between moderately elevated Hcy levels and the MTHFR C677T polymorphism in a cohort of Mexican children with LCPD.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Gajanan S. Revankar ◽  
Yuta Kajiyama ◽  
Yasufumi Gon ◽  
Issei Ogasawara ◽  
Noriaki Hattori ◽  
...  

Abstract‘Yips’ in golf is a complex spectrum of anxiety and movement-disorder that affects competitive sporting performance. With unclear etiology and high prevalence documented in western literature, the perception and management of this psycho-neuromuscular problem among Japanese elite golfers is unknown. The objective of this study was to explore factors associated with yips, investigate the performance deficits and the strategies implemented to prevent yips. We surveyed approx. 1300 professional golfers on their golfing habits, anxiety and musculoskeletal problems, kinematic deficits, changes in training and their outcomes. Statistical procedures included multiple logistic regression and network analysis. 35% of the respondents had experienced yips in their career, their odds increasing proportionally to their golfing experience. Regardless of musculoskeletal symptoms, about 57% of all yips-golfers attributed their symptoms to psychological causes. Network analysis highlighted characteristic movement patterns, i.e. slowing, forceful or freezing of movement for putting, approach and teeing shots respectively. Golfers’ self-administered strategies to relieve yips were mostly inconsequential. Within the limits of our self-reported survey, most golfers perceived yips as a psychological phenomenon despite evidence pointing to a movement-disorder. While self-administered interventions were satisfactory at best, it may be imperative to sensitize golfers from a movement-disorder standpoint for early management of the problem.


Author(s):  
Abhinav Singh ◽  
Yihan Lin ◽  
Jay Pal

Pulmonary artery pseudoaneurysms are a rare but potentially lethal diagnosis. They can be further categorized by etiology or location and are typically successfully treated with endovascular therapies. However, they occasionally require operative intervention. Here, we present a case of a patient who presented with a central pulmonary artery pseudoaneurysm on CT scan with unclear etiology that was initially treated with conservative management. However, this was noted to have rapid enlargement on interval imaging necessitating urgent surgical intervention. The patient underwent a median sternotomy, anterior pulmonary artery arteriotomy for exposure, exclusion of the posterior artery pseudoaneurysm with a bovine pericardial patch, and closure of the anterior arteriotomy with a bovine pericardial patch. The patient did well and was discharged on postoperative day eleven with repeat imaging showing resolution.


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