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2022 ◽  
Author(s):  
Brian Mendel ◽  
Valerie Dirjayanto ◽  
Radityo Prakoso ◽  
Sisca Siagian

Abstract Background: Brugada Syndrome (BrS) and arrhythmogenic right ventricle dysplasia (ARVD) are rare cardiomyopathies predisposing to sudden cardiac death (SCD). Comprehending the electrocardiographic features of these cardiomyopathies are crucial especially in emergency settings.Case presentation: A 25-year old medical student presented with no complaints, but had episodes of syncope, chest pain, and palpitations of unknown origin 10 years ago. The initial assessment showed stable hemodynamics. During examination, the ECG demonstrated incomplete right bundle branch block, Brugada-type 1 pattern, with signs of Epsilon wave. The following year, assessment of the ECG was repeated and findings were found suggestive of Brugada syndrome, although his echocardiography showed no structural abnormality. According to ESC guidelines, asymptomatic Brugada patients should undergo electrophysiology study.Conclusion: Careful follow-up with electrophysiology study is recommended for this patient in order to identify the likelihood of true Brugada and suitability for radiofrequency ablation or implantation of implantable cardioverter defibrillator (ICD).


2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Motoyoshi Takayuki ◽  
Hirai Takashi ◽  
Yoshii Toshitaka ◽  
Inose Hiroyuki ◽  
Matsukura Yu ◽  
...  

Abstract Background Diffuse idiopathic skeletal hyperostosis (DISH) is a structural abnormality of the thoracic spine that is known to impair posture. However, the relationship between DISH and sagittal balance in the whole spine is unclear. The aims of this study were to investigate the prevalence of DISH in patients with cervical myelopathy caused by cervical ossification of the posterior longitudinal ligament (OPLL) or cervical spondylosis and to compare sagittal alignment of the spine between patients with and without DISH. Methods A total of 103 consecutive patients with a diagnosis of cervical myelopathy due to cervical OPLL or spondylosis were retrospectively enrolled in this single-center study. DISH was defined as an ossified lesion that was seen to be completely bridging at least four contiguous adjacent vertebral bodies in the thoracic spine on computed tomography scans. Cervical and spinopelvic sagittal parameters were measured in whole spine radiographs. Results The study population included 28 cases with DISH [DISH (+) group] and 75 without DISH [DISH (−) group]. OPLL was more prevalent in the DISH (+) group than in the DISH (−) group; however, there were no significant differences in other clinical findings. Propensity score matching produced 26 pairs. C7 slope, C2-7 sagittal vertical axis (C-SVA), whole thoracic kyphotic angles, upper thoracic kyphosis, and T5-T12 thoracic kyphosis values were significant higher in the DISH (+) group than in the DISH (−) group. There was no significant between-group difference in the other sagittal spinopelvic parameters. Conclusions This study is the first to compare sagittal alignment in patients with cervical myelopathy according to whether or not they have DISH. Patients with DISH are more likely to have excessive kyphosis in the thoracic spine, a high C7 slope, and a high C2-7 SVA.


2021 ◽  
Vol 9 ◽  
Author(s):  
Ling Hou ◽  
Lu Yin ◽  
Yubin Wu ◽  
Chengguang Zhao ◽  
Yue Du

A structural abnormality or dysfunction of podocytes is the major cause of nephrotic syndrome (NS). The TBC1D8B protein interacts with nephrin, a podocyte slit diaphragm protein, regulates vesicle transport, and functions in the pathogenesis of NS. We report a novel potentially pathogenic variant in the TBC1D8B gene in a 6-month-old boy with NS. A 6-month-old boy was admitted to the hospital because of edema and fever. Our systematic examination led to a diagnosis of NS. Because of the early age of onset, we performed trio whole-exome sequencing of him and his parents. The results showed a new potentially pathogenic variant in the TBC1D8B gene on the X chromosome, c.2717A>G (p.His906Arg). After routine glucocorticoid therapy, his urine protein turned negative, indicating steroid-sensitive NS. The new TBC1D8B variant identified here, c.2717A>G (p.His906Arg), may be associated with early-onset NS in children. Although NS due to pathogenic variants in this gene is more commonly steroid-resistant, our patient had steroid-sensitive NS.


Author(s):  
BIJAYA KUMAR BEHERA ◽  
SUSANTA SEKHAR BEHERA ◽  
SUKANTA KUMAR JENA ◽  
RAKESH MOHANTY ◽  
NISARG BEHERA

Objective: The objective of the study was to study various renal manifestations in sickle cell disease (SCD) and to establish a cause and effect relationship with the evaluation of risk factors. Methods: This prospective observational cross-sectional study was conducted on 82 SCD patients belonging to the age group of 15–50 years of both the genders over a period of 2 years from January 2019 to December 2020 in MKCG Medical College and Hospital, Berhampur, Odisha, India. Eighty-two patients, 32 (39.02%) having sickle cell anemia (SCA) and 50 (60.98%) having sickle cell trait (SCT), admitted to medicine and nephrology wards of the hospital were included in this study. SCD patients with other hemolytic anemia and with renal congenital/structural abnormality and patients with systemic diseases such as diabetes mellitus, systemic hypertension, and systemic lupus erythematosus were excluded from the study. Various laboratory investigations such as complete blood count, hemoglobin (Hb), serum sodium, serum potassium, serum urea, serum creatinine, fasting blood sugar, erythrocyte sedimentation rate, liver function test, urine routine, and microscopic test were carried out. Diagnosis of SCD patients was based on sickling test and high-performance liquid chromatography testing. Radiologic imaging (Sonography for renal changes) was done at radiodiagnosis department of the hospital. Results: Glomerular and tubular dysfunction was more in SCA (Hb SS) patients than SCT (Hb AS) patients and the abnormality was more in patients in crisis. Albuminuria in 78.12%, hematuria in 46.87%, cast and crystal in 28.12%, epithelial cell in 31.25%, and hyposthenuria in 56.25% were found in SCA patients. In SCT patients, albuminuria in 38%, hematuria in 16%, cast and crystal in 22%, epithelial cell in 12%, and hyposthenuria in 24% were found. All the above findings were more in percentages in crisis patients of both the groups. In SCA, 37.5% and in SCT, 2% were found to have chronic kidney disease. Conclusion: Renal involvement in the form of glomerular and tubular dysfunction occur in SCD and more in crisis patients, leading to renal complications, and end-stage renal disease.


2021 ◽  
Vol 8 (11) ◽  
pp. 1873
Author(s):  
Chandan Raybarman

This meta-analysis aimed to advance our knowledge about dacrystic epilepsy in children in the present time. PubMed searches for peer-reviewed case reports and case series were conducted using the keywords “dacrystic epilepsy”, “dacrystic seizures”, “crying epilepsy”, “ictal crying”, “crying seizures”. The databases were developed in accordance with preferred reporting items for systematic reviews and meta-analyses (PRISMA) guidelines. The author collected relevant information to characterise the study population including clinical outcome. Eleven studies out of 353 citations between 1998 and 26 May 2021 met the inclusion criteria, including both single cases and series pertaining to dacrystic epilepsy. Eight case reports and three case series were eligible for this meta-analysis and included twenty one cases. The seizure patterns were dacrystic seizures alone in seven cases (33%), and a combination of dacrystic seizures and gelastic seizures in fourteen cases (67%). Neuroimaging revealed structural abnormality in 95% cases. Hypothalamic hamartoma was found in most of the cases (79%) with combined dacrystic seizures and gelastic seizures, whereas it was found in one case (16%) with dacrystic seizures alone. The other underlying lesions in children with dacrystic seizures alone were subependymal nodules and cortical hamartomas (17%), left mesial temporal sclerosis (33%), and cortical dysplasia (17%). Regarding outcome, antiepileptic drugs alone achieved seizure freedom in four cases (22%) only and others (78%) were difficult to treat cases excluding three cases where treatments were not mentioned. Six cases underwent surgical intervention and two cases received ablative radiotherapy. Lesional dacrystic epilepsy is predominant and pharmaco-resistant in children. However, antiepileptic drugs lead to achieving seizure remission in few cases.


2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Jithangi Wanigasinghe ◽  
Thashi Chang

Abstract Introduction Seizures of autoimmune etiology may occur independent of or predate syndromes of encephalitis. We report a child with “pure” autoimmune epilepsy followed up for 7 years to highlight long-term effects of this epilepsy and the importance of early initiation and appropriate escalation of immunosuppression to achieve a good long-term outcome. Case presentation A previously healthy 5-year-old Sri Lankan boy presented with acute, frequent, brief focal seizures of temporal-lobe semiology without clinical and investigatory findings suggestive of central nervous system infection, tumor, structural abnormality, or metabolic causes. His epilepsy showed poor response to increasing doses and combinations of antiseizure medications. Further investigations detected N-methyl-d-aspartate receptor antibodies in serum, but not cerebrospinal fluid. Treatment with intravenous methyl prednisolone and maintenance on mycophenolate resulted in a rapid reduction, with seizure freedom achieved within 5–6 weeks. He relapsed when immunotherapy and anti seizure medications were reduced after seizure freedom for 24 months. This, and subsequent relapses, showed poor response to modification of anti-seizure medications, but treatment with immunotherapy (methyl prednisolone and rituximab) achieved complete seizure freedom. At 7-years of follow-up, he remains free of seizure for over 3 years, and has average academic performance and satisfactory quality of life. Conclusions Autoimmune epilepsy is a recognized independent entity. Diagnostic criteria have been suggested for its early recognition and confirmation of diagnosis. Early diagnosis and initiation of immunosuppression, with prompt escalation of treatment when necessary, remains key to good patient outcome.


Children ◽  
2021 ◽  
Vol 8 (10) ◽  
pp. 935
Author(s):  
Alhanouf Alatawi ◽  
Naif Alali ◽  
Abrar Alamrani ◽  
Faris Hashem ◽  
Seham Alhemaidi ◽  
...  

Amblyopia is a reduced best-corrected visual acuity of one or both eyes that cannot be attributed to a structural abnormality; it is a functional reduction in the vision of an eye caused by disuse during a critical period of visual development. It is considered the leading cause of visual defects in children. With early diagnosis and treatment, children with amblyopia can significantly improve their vision. However, if it is neglected and not treated during childhood, unfortunately, it permanently decreases vision. Therefore, prevention, detection, and treatment largely depend on parents. This article explores parents’ perspectives on amblyopia and routine examination of their children’s eyes. A cross-sectional study used an electronic questionnaire consisting of five main sections to assess the level of awareness of amblyopia among parents. As a result, a total of 325 participants were included in our analysis. 209 (64.3%) were mothers, and 116 (35/7%) were fathers. The age groups were 35–50 years of age (61.5%), 20–34 years (23.4%), and older than 50 years (15%). Participants with a history of amblyopia numbered 23 (7.1%), and 39 had an amblyopic child (12%). A good awareness level of amblyopia among parents was found in only 10 (3%) participants, a fair awareness level in 202 (62%), and 113 (35%) participants were classified as having a poor awareness level of amblyopia. Only 13.8% of the parents took their children for yearly routine eye exams, while the majority (72%) took their children only if they had a complaint, and 14.2% took them for eye checkups only before school entry. In conclusion, parents’ awareness of amblyopia in Tabuk City, KSA, was low. In addition, a limited proportion of parents reported consistently taking their children for routine eye exams. Therefore, raising awareness should be considered in public education regarding the disease.


2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
M L Servato ◽  
A Lopez-Sainz ◽  
F Valente ◽  
R Fernandez-Galera ◽  
G Casas-Masnou ◽  
...  

Abstract Background Mitral annular disjunction (MAD) is a structural abnormality of the mitral annular fibrosus characterized by a separation between the atrial wall-mitral valve junction, and the left ventricular attachment (1). It has been associated with mitral valve prolapse (MVP) (2) but also, with arrhythmias and sudden cardiac death (SCD) (3). There is no evidence of its prevalence and clinical significance in patients with syndromic hereditary aortopathies. Purpose To evaluate the prevalence of MAD, PMV, and the combination of both in patients with syndromic hereditary thoracic aortic disease (HTAD) including Marfan (MFS), Loeys-Dietz (LDS) and vascular Ehlers-Danlos syndromes (vEDS), and its relationship with arrhythmias, SCD, mitral regurgitation (MR) severity and the need for mitral surgery at the follow-up. Methods Adult patients with syndromic HTAD seen at our specialized unit were retrospectively included. The presence of MAD, MVP, and significant MR at first echocardiogram were evaluated. Electronic medical records were reviewed to register the occurrence of arrhythmic events and the need of mitral surgery. Last echocardiogram available was also assessed to evaluate MR progression. Results A total of 295 patients were included (235 MFS, 42 LDS and 18 vEDS). Mean age at baseline was 39.0±14.4 and 52.9% were female. MAD was present in 87 (37.0%) of MFS, 6 (14.3%) of LDS and was not present in vEDS (p<0.001). MVP was found in 105 (44.7%) of MFS, 6 (14.3%) of LDS and 0 in vEDS (p<0.001). In MFS, the presence of MAD was significantly associated with MVP (p≤0.001) (Table 1). However, 14 (6.0%) of patients had isolated MAD (Table 2). At baseline, significant MR was observed in 18 (24.7%) of patients with concurrent MAD and MVP and was not present in patients with isolated MAD (Table 2). MVP (OR 16.85 IC 4.43 – 64.07) but not MAD (p=0.607), was associated with significant MR in the multivariate analysis. A second echocardiogram was available in 220 patients at ≥1 year (mean 4.1±1.4 years). Overall, 25 (11.4%) presented significant progression of MR, 0 in the isolated MAD group, 13 (19.4%) in the MAD/MVP group and 6 (20.0%) of the isolated MVP (p=0.007). After a mean clinical follow-up of 7.5±3.2 years, 10 patients required mitral surgery (6 prosthesis, 4 valvuloplasty), 22 (9.4%) presented atrial fibrillation, flutter or supraventricular tachycardia (SVT), and 2 (0.9%) SCD. After adjustment for the presence of MVP and time of follow-up, MAD was not associated with progression of MR (p=0.529) need for mitral surgery (p=0.096), atrial fibrillation-flutter or SVT (p=0.510) nor SCD. (p=0.997). Conclusions The prevalence of MAD in syndromic HTAD is high, especially in Marfan syndrome, and absent in vEDS. In this retrospective observational study, the presence of MAD in Marfan was not associated with mitral regurgitation evolution or arrhythmic events. FUNDunding Acknowledgement Type of funding sources: None. Characteristics of MFS patients Presence of significant MR by groups.


2021 ◽  
Vol 2 (2) ◽  
pp. 84
Author(s):  
Maulia Prismadani ◽  
Agus Subagjo

Infective endocarditis (IE) is associated with a high rate of mortality and morbidity in patients with anomalies of heart valves. We present a case of a 23-year-old male known to have severe mitral regurgitation (MR) with a history of prolonged fever for 5 months. According to The Modified Duke Criteria, clinical sign and symptoms fulfilled one major criterion (echocardiography finding of vegetation on mitral valve) and three minor (fever of at least 380 Celsius, valvular heart disease as a predisposing heart condition, and positive blood culture for Lactococcus sp. and Pediococcus sp.) considered as definite IE. Fever is one of the most common symptoms of IE (>90% of cases). Patient with prolonged fever and structural abnormality of heart valve should be considered for acute or subacute of IE. Establishing an diagnosis of IE and appropriate antibiotic therapy will improve the patient's clinical condition, and reduce morbidity and mortality.


2021 ◽  
pp. 1-10
Author(s):  
Shaoqiang Han ◽  
Ruiping Zheng ◽  
Shuying Li ◽  
Liang Liu ◽  
Caihong Wang ◽  
...  

Abstract Background As a neuroprogressive illness, depression is accompanied by brain structural abnormality that extends to many brain regions. However, the progressive structural alteration pattern remains unknown. Methods To elaborate the progressive structural alteration of depression according to illness duration, we recruited 195 never-treated first-episode patients with depression and 130 healthy controls (HCs) undergoing T1-weighted MRI scans. Voxel-based morphometry method was adopted to measure gray matter volume (GMV) for each participant. Patients were first divided into three stages according to the length of illness duration, then we explored stage-specific GMV alterations and the causal effect relationship between them using causal structural covariance network (CaSCN) analysis. Results Overall, patients with depression presented stage-specific GMV alterations compared with HCs. Regions including the hippocampus, the thalamus and the ventral medial prefrontal cortex (vmPFC) presented GMV alteration at onset of illness. Then as the illness advanced, others regions began to present GMV alterations. These results suggested that GMV alteration originated from the hippocampus, the thalamus and vmPFC then expanded to other brain regions. The results of CaSCN analysis revealed that the hippocampus and the vmPFC corporately exerted causal effect on regions such as nucleus accumbens, the precuneus and the cerebellum. In addition, GMV alteration in the hippocampus was also potentially causally related to that in the dorsolateral frontal gyrus. Conclusions Consistent with the neuroprogressive hypothesis, our results reveal progressive morphological alteration originating from the vmPFC and the hippocampus and further elucidate possible details about disease progression of depression.


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