scholarly journals Retinal defect in children with infantile spasms of varying etiologies

Neurology ◽  
2019 ◽  
Vol 94 (6) ◽  
pp. e575-e582 ◽  
Author(s):  
Michelle T. McFarlane ◽  
Tom Wright ◽  
Blathnaid McCoy ◽  
O. Carter Snead ◽  
Carol A. Westall

ObjectiveTo determine the prevalence of retinal defect in children with infantile spasms (IS) unrelated to treatment with vigabatrin and clarify if specific primary etiologies for IS are associated with retinal defect more than others.MethodsThis was an observational cohort study including 312 patients (176 male, 136 female) with IS who were vigabatrin-naive. Participants ranged from 1.7 to 34.7 months of age (mean 8.8 months). Electroretinograms (ERGs) were performed according to the International Society for Clinical Electrophysiology of Vision. Retinal defect was identified as abnormal if the 30-Hz flicker ERG amplitude was lower than the age-corrected normal 95% prediction interval. The primary etiology for IS, as determined by the treating pediatric neurologist(s), was obtained from patient health records and classified into 1 of 9 etiologic subgroups: (1) genetic disorders alone, (2) genetic-structural disorders, (3) structural-congenital, (4) structural-acquired (perinatal), (5) structural-acquired (postnatal), (6) metabolic disorders, (7) immunologic disorders, (8) infectious, and (9) unknown causes.ResultsFifty-nine of the 312 vigabatrin-naive children (18.9%) showed retinal defect and the prevalence of retinal defect was highest (24.4%) in the structural-acquired (perinatal) subgroup, which included hypoxic-ischemic defect. Retinal function compared across subgroups showed no significant difference.ConclusionsCare is required in diagnosing retinal toxicity, which would be enhanced by baseline flicker ERG in children with IS prior to starting vigabatrin.

2020 ◽  
Author(s):  
Guy Tobias ◽  
Assaf B Spanier

BACKGROUND Gingivitis is a non-painful, inflammatory condition that can be treated with home remedies. Left untreated gingivitis can lead to tooth loss. Periodic dental examinations are important for early diagnosis and treatment of gum diseases. In order to contain the spread of the corona virus, governments, including in Israel, have restricted movements of their citizens which has caused routine dental checkups to be postponed. OBJECTIVE This study aimed to examine the ability of an mHealth app- iGAM to reduce gingivitis. METHODS A prospective observational cohort study was performed, 160 unpaid participants were divided into 2 equal groups and downloaded the iGAM app. Group 1 photographed their gums weekly for eight weeks. Group 2 photographed their gums at the time of recruitment and 8 weeks later. After photo submission, the participants received the message "It is recommended to read the information contained within the app regarding maintaining oral hygiene habits". A single blinded researcher examined the images and scored them according to the Modified Gingival Index (MGI). RESULTS The average age of group 1 was 26.77 (S.D. ± 7.43), and 28.53 (S.D. ± 10.44) for group 2. The majority were male (74.7% in group 1 vs. 66.7% in group 2), most participants described themselves as "secular", most were "single", non-smokers (74.7% vs. 78.4%) and did not take medications (85.3% vs. 78.4%). 126 subjects completed the study. A statistically significant difference (P <.001) was found in the dependent variable (MGI) in a linearly negative manner. As time passed, the gum condition improved, there were significantly lower gingivitis scores in group 1 (M = 1.16, S.D. ± 1.18) compared to group 2 (M = 2.16, S.D. ± 1.49), after eight weeks. Those with more recent dental visits had a lower MGI (p = .037). No association was found between knowledge and behavior, most participants were familiar with the recommendations for maintaining oral health, yet they only performed some. CONCLUSIONS A dental selfie taken once a week using an mHealth app (iGAM) reduced the signs of gingivitis and promoted oral health. During the current pandemic where social distancing recommendations may be causing people to avoid dental clinics, this app can remotely promote gum health. CLINICALTRIAL The protocol was approved by Hadassah research ethics committee (IRB, 0212-18-HMO)


2021 ◽  
pp. 002076402110255
Author(s):  
Chao-Ying Tu ◽  
Wei-Shih Liu ◽  
Yen-Fu Chen ◽  
Wei-Lieh Huang

Background: Somatic symptom disorder (SSD) is common in medical settings but has been underdiagnosed. Stigma related to psychiatric illness was one of the barriers to making the diagnosis. More and more SSD patients who visited psychiatric clinics with physical complaints identify themselves as having ‘autonomic dysregulation’ in Taiwan. Aims: This study aimed to investigate the characteristics of patients with a subjective diagnosis of ‘autonomic dysregulation’. Method: We assessed the sociodemographic profile, medical/psychiatric diagnoses, subjective psychiatric diagnoses, perceived psychiatric stigma, help-seeking attitude, and healthcare utilization of 122 participants with SSD. Participants who identified themselves as having ‘autonomic dysregulation’ ( n = 84) were compared to those who did not (n=38). Results: Participants with a subjective diagnosis of ‘autonomic dysregulation’ were younger and had a higher education level than those who did not have such a subjective diagnosis. They also had higher scores on the Patient Health Questionnaire-15 (PHQ-15) and Health Anxiety Questionnaire (HAQ), whereas comorbid psychiatric diagnoses were similar in the two groups. Participants with and without a subjective diagnosis of ‘autonomic dysregulation’ did not have a significant difference in perceived psychiatric stigma and help-seeking attitude/behaviors. In a multiple logistic regression model, only age was associated with having a subjective diagnosis of ‘autonomic dysregulation’. Conclusion: Among SSD patients, those who identify themselves as having ‘autonomic dysregulation’ tend to have higher somatic distress and health anxiety than those who do not. ‘Autonomic dysregulation’ is not associated with perceived psychiatric stigma.


2021 ◽  
Vol 28 (1) ◽  
Author(s):  
Eman Hurissi ◽  
Ethar Abu-jabir ◽  
Amnah Mohammed ◽  
Mashael Mahnashi ◽  
Sana Alharbi ◽  
...  

Abstract Background Psychological disorders are common among individuals who experienced COVID-19. Previous studies have shown that females report higher depression and anxiety than males. The present study aims to test the differences in depression and anxiety between males and females who have experienced COVID-19. This a descriptive, observational, comparative study, among Saudi Arabian population. A total of 686 participants have been recruited. Participants completed an online questionnaire that contains questions about sociodemographic, COVID-19, Generalized Anxiety Disorder (GAD-7) questionnaire, and Patient Health Questionnaire (PHQ-9) to measure anxiety and depression, respectively. Results Twenty-six percent of the participants were excluded and our final sample consisted of 507 participants (median age 23; 65% females). Of the final sample, 23% (118) have been previously diagnosed with COVID-19. There is no significant difference in GAD-7 and PHQ-9 scores between COVID-19- positive and COVID-19-negative populations. However, females who have experienced COVID-19 reported significantly higher GAD-7 and PHQ-9 scores compared to males. Conclusion The results of our study show that females are significantly at a higher risk for depression and anxiety as a result of COVID-19 infection compared to males. Further epidemiological studies are required for a better understanding of this correlation.


2021 ◽  
pp. 106002802199323
Author(s):  
Caitlin E. Kulig ◽  
A. Joshua Roberts ◽  
A. Shaun Rowe ◽  
Hahyoon Kim ◽  
William E. Dager

Background Literature suggests that 2 mg of vitamin K intravenously (IV) provides a similar effect as 10 mg to reverse warfarin. Doses <5 mg haven’t been studied in depth. Objective The objective was to determine the international normalized ratio (INR) reduction effect of ultra low-dose (ULD) IV vitamin K. Methods This retrospective, observational cohort study compared IV vitamin K doses of 0.25-0.5 mg (ULD) versus 1-2 mg (standard low dose [SLD]). The primary outcome assessed ΔINR at 36 hours; secondary outcomes assessed ΔINR at 12 hours and 30-day venous thromboembolism (VTE) and mortality rates. Results Of 88 patients identified (median baseline INR [IQR], 5.1 [3.1, 7.3] vs 4.5 [2.8, 8.2], ULD vs SLD, respectively), 59 had an INR at 12 hours. The ULD had fewer 12-hour INR values <2, with no statistical difference in the ΔINR at 12 hours between the ULD and SLD cohorts (median ΔINR, 2.2 [1.1, 3.4] vs 2.2 [1.1, 6.3]; P = 0.54; median INR, 2.3 vs 1.8). A total of 41 patients had both a 12- and 36-hour INR. No significant difference in the ΔINR between the 12- and 36-hour values occurred (median ΔINR, 0.52 [0.2, 0.91] vs ΔINR, 0.46 [0.18, 0.55]; P = 0.61), suggesting no rebound or excessive reversal and no difference in 30-day rates of VTE ( P > 0.99) or death ( P = 0.38). Conclusion and Relevance ULD IV vitamin K reversed INR similarly to doses of 1-2 mg without rebound. A ULD strategy may be considered in patients requiring more cautious reversal.


PEDIATRICS ◽  
1987 ◽  
Vol 79 (6) ◽  
pp. 1024-1026
Author(s):  
LUIS A. ALVAREZ ◽  
SHLOMO SHINNAR ◽  
SOLOMON L. MOSHÉ

Infantile spasms are an age-specific seizure disorder that occur in infants with no known underlying disorder or prior neurologic insult (cryptogenic group) as well as in infants with a variety of genetic disorders or known prior neurologic insult (symptomatic group).1-8 The presence of infantile spasms is associated with a high incidence of developmental retardation (87%)3 even in previously normal infants.3,5-7 Although there are many contradictory studies, it is generally believed that the infants in the symptomatic group, especially those with abnormal findings on neurologic examination prior to the onset of the seizures, have a significantly higher incidence of mental retardation and epilepsy than the infants in the cryptogenic group.1-9


2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
F Dahadhah ◽  
M. Sale Jaweesh ◽  
M. Sali. A Zoubi ◽  
M Issa. Ab. Alarjah ◽  
M Ei Hammadeh ◽  
...  

Abstract Study question Is there any association between male infertility and the polymorphic variants of Mitochondrial Nicotinamide Adenine Dinucleotide Hydride dehydrogenase (NADH) Subunit 4 (MT-ND4)? Summary answer Our findings suggested that male infertility was correlated to rs2853495 and rs869096886 SNPs in MTND4. What is known already The rate of mutations in the mtDNA, the powerhouse of the cell, is high due to the lack of histones and DNA repair mechanisms. Therefore, mutations that occur in the mitochondrial genome, play a major role in some human genetic disorders. 15 - 30% of male infertility are related to genetic predisposition. Sperm containing defective mitochondria cannot effectively produce ATP and more likely to produce reactive oxygen species (ROS) and free radicals, thereby causing a defect in mtDNA, make trouble energy, and deteriorate motility and fertility. Study design, size, duration: A prospective study carried out between 2018 and 2019. 112 semen samples were collected in this study. Participants/materials, setting, methods The present study was carried out at the department of Obstetrics and Gynecology, University of Saarland, Germany. Samples were divided into 68 subfertile and 44 fertile men. Mitochondrial DNA was extracted using a QIAamp DNA Mini Kit, after that the mtDNA was amplified by using REPLI-g Mitochondrial DNA Kit. Polymerase chain reaction (PCR) was used to amplify MT-ND4 gene. Then, samples were purified and sequenced using the Sanger method in the Microsynth Seq lab, Germany. Main results and the role of chance The genotypes frequencies of the study population showed a statistically significant association between rs2853495 G&gt;A (Gly320Gly) and male infertility (P = 0.0351). Similarly, the allele frequency test showed that rs2853495 G&gt;A (Gly320Gly) and rs869096886 A&gt;G (Leu164Leu) were significantly associated with male infertility (adjusted OR = 2.616, 95% CI = 1.374 - 4.983, P = 0.0028; adjusted OR = 2.237, 95% CI = 1.245 - 4.017, P = 0.0073, respectively). On the other hand, no statistically significant difference was observed between the asthenozoospermia, oligozoospermia, teratozoospermia, asthenoteratozoospermia, oligoasthenoteratozoospermia, oligoteratozoospermia subgroups of subfertile males and the fertile ones. Limitations, reasons for caution The size number of the study samples. Wider implications of the findings: A larger prospective study will be required to confirm these associations of mitochondrial gene polymorphisms rs2853495 and rs869096886 in MT-ND4 and male infertility and to clarify the definite effect of the mitochondrial genetic variations on male infertility. Trial registration number Not applicable


2018 ◽  
Vol 26 (2) ◽  
pp. 168-179 ◽  
Author(s):  
Michele Schiano di Visconte ◽  
Andrea Braini ◽  
Luana Moras ◽  
Luigi Brusciano ◽  
Ludovico Docimo ◽  
...  

Background. Permacol paste injection is a novel treatment approach for complex cryptoglandular anal fistulas. This study was performed to evaluate the long-term clinical outcomes of treatment with Permacol paste for complex cryptoglandular fistulas. Methods. Patients with primary or recurrent complex cryptoglandular anal fistulas treated with Permacol paste from 2014 to 2016 were retrospectively analyzed. Results. A total of 46 patients (median age, 41.3 years; 21 female) underwent Permacol paste injection; 20 patients (43%) had previously undergone failed fistula surgery. The patients had experienced anal fistula-related symptoms for a median of 10 weeks (range, 3-50 weeks). All patients had a draining seton in situ for a median of 10 weeks (range, 4-46 weeks). The median follow-up time was 24 months (range, 1-25 months). At the 1-month follow-up, 2 patients had paste extrusion and 2 had anal abscesses. The mean preoperative Continence Grading Scale score was 1.10 ± 1.40, and that at 3 months postoperatively was 1.13 ± 1.39 ( P = .322). There was a significant difference in the preoperative and the 1- and 3-month postoperative pain scores ( P < .001). At the 24-month follow-up, the healing rate was 50% (n = 23). A total of 19 patients (41%) with a recurrent fistula after failed Permacol paste injection required additional operative procedures. The satisfaction rate at the 2-year follow-up was 65%. Conclusion. Permacol paste injection is minimally invasive and technically easy to perform. It can be considered as a viable and reasonable option for the treatment of complex cryptoglandular anal fistulas in patients with fecal continence disorders.


Author(s):  
Gianmarco Lombardi ◽  
Giovanni Gambaro ◽  
Pietro Manuel Ferraro

Introduction Electrolytes disorders are common findings in kidney diseases and might represent a useful biomarker preceding kidney injury. Serum potassium [K+] imbalance is still poorly investigated for association with acute kidney injury (AKI) and most evidence come from intensive care units (ICU). The aim of our study was to comprehensively investigate this association in a large, unselected cohort of hospitalized patients. Methods: We performed a retrospective observational cohort study on the inpatient population admitted to Fondazione Policlinico Universitario A. Gemelli IRCCS between January 1, 2010 and December 31, 2014 with inclusion of adult patients with at least 2 [K+] and 3 serum creatinine (sCr) measurements who did not develop AKI during an initial 10-day window. The outcome of interest was in-hospital AKI. The exposures of interest were [K+] fluctuations and hypo (HoK) and hyperkalemia (HerK). [K+] variability was evaluated using the coefficient of variation (CV). Cox proportional hazards regression models were used to obtain hazard ratios (HRs) and 95% confidence intervals (CIs) of the association between the exposures of interest and development of AKI. Results: 21,830 hospital admissions from 18,836 patients were included in our study. During a median follow-up of 5 (interquartile range [IQR] 7) days, AKI was observed in 555 hospital admissions (2.9%); median time for AKI development was 5 (IQR 7) days. Higher [K+] variability was independently associated with increased risk of AKI with a statistically significant linear trend across groups (p-value = 0.012). A significantly higher incidence of AKI was documented in patients with HerK compared with normokalemia. No statistically significant difference was observed between HoK and HerK (p-value = 0.92). Conclusion: [K+] abnormalities including fluctuations even within the normal range are associated with development of AKI.


2021 ◽  
Vol 10 (18) ◽  
pp. 4218
Author(s):  
Arik Eisenkraft ◽  
Yasmin Maor ◽  
Keren Constantini ◽  
Nir Goldstein ◽  
Dean Nachman ◽  
...  

COVID-19 exerts deleterious cardiopulmonary effects, leading to a worse prognosis in the most affected. This retrospective multi-center observational cohort study aimed to analyze the trajectories of key vitals amongst hospitalized COVID-19 patients using a chest-patch wearable providing continuous remote patient monitoring of numerous vital signs. The study was conducted in five COVID-19 isolation units. A total of 492 COVID-19 patients were included in the final analysis. Physiological parameters were measured every 15 min. More than 3 million measurements were collected including heart rate, systolic and diastolic blood pressure, cardiac output, cardiac index, systemic vascular resistance, respiratory rate, blood oxygen saturation, and body temperature. Cardiovascular deterioration appeared early after admission and in parallel with changes in the respiratory parameters, showing a significant difference in trajectories within sub-populations at high risk. Early detection of cardiovascular deterioration of COVID-19 patients is achievable when using frequent remote patient monitoring.


2019 ◽  
Vol 3 (Supplement_1) ◽  
pp. S632-S633
Author(s):  
Anne M Murray ◽  
John McNeil ◽  
Basil Eldadah

Abstract The NIA/NCI ASPREE (ASPirin in Reducing Events in the Elderly) Study was a landmark RCT of 19,114 healthy adults aged 70 (whites) and 65 (US minorities) in Australia and the US that demonstrated lack of effect of low dose aspirin (LDA:100 mg/d) on the novel primary end point of Disability- Free Survival (life free of disability and dementia) over a mean treatment of 4.7 years. Surprisingly, LDA was associated with a trend toward increased all cause mortality, driven by cancer deaths (results published NEJM September 2018). After the LDA intervention was halted in June 2017, ASPREE was extended as an observational cohort follow-on study, ASPREE-XT, to measure potential delayed LDA effects on ASPREE outcomes. The ASPREE study primary results will be summarized, and the rationale for and performance of the novel DFS geriatric outcome discussed. New results of the analysis of dementia as a secondary outcome will also be presented (both for overall dementia and Alzheimer’s disease). We will also examine the unexpected increased all-cause mortality attributed to cancer deaths, despite no significant difference between groups for all incident cancer, and effects of LDA on incident metastatic disease. The important implications of the ASPREE results for prescribing LDA for primary prevention in health elderly will be discussed, and the ASPREE-XT study design and progress described. Lastly, the breadth of the ASPREE sub-studies including the Biobank, Brain Imaging studies and Genomics, and opportunities to access the rich ASPREE data and collaborate with ASPREE investigators will be reviewed.


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