Increasing Rate of a Positive Family History of Inflammatory Bowel Disease (IBD) in Pediatric IBD Patients

The role of a positive family history in pediatric inflammatory bowel disease (IBD) in the era of biologic therapy has not been elucidated. We retrospectively reviewed the medical records of children with IBD and retrieved demographic and clinical characteristics, including the presence of a positive family history of IBD, IBD phenotype, disease course, and therapy. Overall, 325 children (age range at diagnosis 11-15 years) were included, of whom 82 (25.2%) had a positive family history. Children diagnosed during 2016-2020 had a higher frequency of positive family history compared to those diagnosed during 2010-2015 (31.8% versus 20.7%, respectively, p = 0.024). Children with a positive family history had a higher risk for a stricturing phenotype than those with a negative family history (11.3% versus 2.8%, respectively, p = 0.052). They more often received nutritional therapy (53.7% versus 36.6%, p = 0.007) and less often received corticosteroids (36.6% versus 52.7%, p = 0.012). More children with a negative family history needed intensification of biologic therapy (p = 0.041). Conclusion: The rate of a positive family history of IBD in the pediatric IBD population is increasing. A positive family history may have some impact upon IBD phenotype but none on IBD outcome.

The Missed symptoms of behjet’s disease

Objectives: Behçet's disease is a systemic chronic proinflammatory vascular disease .this study wants to describe more details of patients with Behçet’s disease in iraq. Methods: Any patient with suspected or diagnosed Behçet’s disease attending centre of dermatology/behjet unit , 2017- 2018. A total 47 patients ,Full history and examination were taken. Percentage of complains were calculated. Results: 37 were females and 10 were males , Age of patients ranged from (11-63) years.Pethargy test was negative in 13 patients , positive in 15 ,21 had negative family history and 9 had positive . They complain from Malaise , oral ulcer, genital ulcer, unexplained fever ,20 symptoms began from childhood ,decreased hearing,eye complain, dysphagia , dyspnea ,headache , memory problems, depression , muscle contraction, peripheral paresthesia , joint complains, sleep disturbances and renal problems. Conclusion: describes new symptoms can help in diagnosis of behjet’s disease .

P197 The effect of a positive family history on the phenotype and course of paediatric Inflammatory Bowel Disease

Background Previous studies have suggested that adult patients with inflammatory bowel disease (IBD) that have a positive family history of IBD may be at risk for a more aggressive clinical course, compared with sporadic cases. The role of a positive family history in paediatric IBD, however, has not been elucidated. Methods We retrospectively reviewed the medical records of children with IBD and retrieved demographic and clinical characteristics, including IBD phenotype, course and therapy. We have documented the presence of a positive family history of IBD, and compared the clinical data of children with a positive family history to that of children with a negative family history. Results Overall, 325 children with a median (IQR) age of 13.9 (11–15) years at diagnosis were included: 194 (59.7%) with Crohn’s disease (CD) and 131 (40.3%) with ulcerative colitis. A positive family history of IBD was observed in 82 children (25.2%). Of them, 36 (43.9%) had a first-degree family member with IBD, and 23 (28%) had more than one family member with IBD. Children with a positive family history had a higher risk for stricturing phenotype (11.3% versus 2.8%, P=0.05) and were treated more often by nutritional therapy (53.7% versus 36.6%, P=0.007) and less by corticosteroids (36.6% versus 52.7%, P=0.012). Children with a negative family history had a higher need to intensification of biologic therapy [Hazard ratio (HR)=1.792, 95% confidence interval (CI) 1.005–3.195, P=0.041 and HR=2.597, 95% CI 1.224–5.525, P=0.008 for CD) (Figure 1). No difference in the risk for IBD exacerbation, hospitalization and operation was found between the groups. Conclusion A positive family history of IBD may have a mild impact on the phenotype and course of paediatric IBD.

The Challenge of Managing Patients Suffering from TBI: The Utility of Multiparametric MRI

Traumatic brain injury (TBI) is a complex phenomenon affecting multiple areas of the brain in multiple ways. Both right and left hemispheres are affected as well as supratentorial and infratentorial compartments. These multifocal injuries are caused by many factors including acute mechanical injury, focal intracranial hemorrhage, blunt and rotational forces, epidural and subdural hematoma, hypoxemia, hypotension, edema, axonal damage, neuronal death, gliosis and blood brain barrier disruption. Clinicians and patients benefit by precise information about the neuroanatomical areas that are affected macroscopically, microscopically and biochemically in an individual patient.Standard imaging studies are frequently negative or grossly underestimate the severity of TBI and may exacerbate and prolong patient suffering with an imaging result of “no significant abnormality”. Specifically, sophisticated imaging tools have been developed which reveal significant damage to the brain structure including atrophy, MRI spectroscopy showing variations in neuronal metabolite N-acetyl-aspartate, elevations of membrane related Choline, and the glial metabolite myo-inositol is often observed to be increased post injury. In addition, susceptibility weighted imaging (SWI) has been shown to be more reliable for detecting microbleeds versus calcifications.We have selected two TBI patients with diffuse traumatic brain injury.The first patient is a 43-year-old male who suffered severe traumatic brain injury from a motorcycle accident in 2016. Following the accident, the patient was diagnosed with seizures, major depression, and intermittent explosive disorder. He has attempted suicide and has neurobehavioral disinhibition including severe anger, agitation and irritability. He denies psychiatric history prior to TBI and has negative family history. Following the TBI, he became physically aggressive and assaultive in public with minimal provocation. He denies symptoms of thought disorder and mania. He is negative for symptoms of cognitive decline or encephalopathy.The second patient is a 49-year-old male who suffered at least 3 concussive blasts in the Army and a parachute injury. Following the last accident, the patient was diagnosed with major depressive disorder, panic disorder, PTSD and generalized anxiety disorder. He denies any psychiatric history prior to TBI including negative family history of psychiatric illness. In addition, he now suffers from nervousness, irritability, anger, emotional lability and concurrent concentration issues, problems completing tasks and alterations in memory.Both patients underwent 1.5T multiparametric MRI using standard T2, FLAIR, DWI and T1 sequences, and specialized sequences including susceptibility weighted (SWAN/SWI), 3D FLAIR, single voxel MRI spectroscopy (MRS), diffusion tensor imaging (DTI), arterial spin labeling perfusion (ASL) and volumetric MRI (NeuroQuant). Importantly, this exam can be performed in 30–45 minutes and requires no injections other than gadolinium in some patients. We will discuss the insights derived from the MRI which detail the injured areas, validate the severity of the brain damage, and provide insight into the psychological, motivational and physical disabilities that afflict these patients. It is our expectation that this kind of imaging study will grow in value as we link specific patterns of injury to specific symptoms and syndromes resulting in more targeted therapies in the future.

Knowledge, Attitude, and Opinions of Egyptian Medical Students Toward Biobanking Issues

ABSTRACT Introduction Biobanking is an emerging concept in Egypt. Medical students represent important future stakeholders in the research community. The objective of this work was to evaluate the knowledge, attitude, and opinions of Egyptian medical students toward biobanking issues. Methods We designed a structured survey about these issues, which was communicated online with medical students at three universities in Egypt. Results A total of 315 of 364 questionnaires were completed. More than half the students have heard the term “biobanking” before. Approximately 77% had a general positive attitude toward the concept of biobanking; however, only 57.7% were willing to participate with their own or family samples. The positive attitude toward donation was significantly higher in participants with negative family history of inherited diseases (p = 0.02). Conclusion Although some students had limited knowledge of biobanking, they had a positive attitude toward the concept in general. However, this was not reflected in a similar attitude toward donating biospecimens, especially in those with a family history of inherited disease. Moreover, they expressed concerns about data protection and samples sharing with different stakeholders. Taking all these into account, educational activities about biobanking should be given to medical students to fill the knowledge gap on the subject.

Changes in Hand Hygiene Behaviors and Its Related Factors Among Northern Iranian Population During the First Peak and Subsidence of COVID-19 Pandemic Period: Results From PERSIAN Guilan Cohort Study (PGCS)

Background: Considering the importance of the hand hygiene behaviors for the prevention of COVID-19 transmission, the current study was conducted to investigate the changes in hand-washing behaviors and its related factors among the northern Iranian population during the first peak and subsidence of COVID-19 pandemic period.Methods: This cross-sectional study was conducted during two periods in Guilan (Northern provinces of Iran). First period conducted at the first peak of COVID-19 pandemic in Iran (between 03/23/2020 and 03/30/2020), and second period conducted at the first subsidence of COVID-19 pandemic in Iran (between 05/3/20 and 05/10/2020). The questionnaire was completed by 571 adult participants. Data on frequency, procedure and circumstances of hand-washing and obsessive-like behaviors were collected. Potential correlates of reduction in frequency of hand washing were analyzed by multiple logistic regression.Result: Compared to peak of COVID-19 pandemic, frequency and procedure of hand-washing and obsessive-like behaviors were significantly reduced at the subsidence of COVID-19 pandemic (all p<0.05). Females with negative family history of coronavirus disease had greater odds (Adjusted Odds Ratio = 2.19, P =0.03) of reduction in the frequency of daily hand-washing. Younger than 50 years old males and males who reduced the procedure of hand-washing had greater odds (AOR = 1.71, P =0.02 and AOR = 2.16, P =0.001, respectively) of reduction in the frequency of daily hand-washing. Conclusion: Northern Iranian populations were found to decrease their frequency and quality of hand washing and obsessive-like behaviors over time from the first peak to first subsidence of COVID-19 pandemic. Here, the factors that independently predicted reduction in frequency of hand washing in male population were younger age and reduction in procedure of hand-washing and in female population was a negative family history of coronavirus disease. Thus, special attention should be paid to maintaining the general population’s perceived susceptibility to illness, especially in younger men during the pandemic.

Impact of Overweight in Mens with Family History of Hypertension: Early Heart Rate Variability and Oxidative Stress Disarrangements

Aim. To evaluate cardiovascular, autonomic, and oxidative stress markers in eutrophic and overweight offspring of hypertensive parents comparing them to eutrophic and overweight offspring of normotensive parents. Methods. We conducted a cross-sectional study. We selected 71 male and sedentary subjects, divided into 4 groups: eutrophic group with a negative family history of hypertension (EH-, n=18) or positive family history of hypertension (EH+, n=17), overweight group with a negative family history of hypertension (OH-, n=19) or a positive family history of hypertension (OH+, n=17), and aged between 18 and 35 years. Results. Blood glucose was higher in the OH+ group when compared to other groups. Diastolic blood pressure was increased in OH- and OH+ groups when compared to eutrophic groups. Regarding the HRV, the LF abs was higher in OH- and OH+ groups when compared to the EH- group. LF/HF values were higher in EH+ and OH+ groups when compared to the EH- and OH- groups. As to oxidative stress and the metabolism of nitric oxide, we observed an increase in hydrogen peroxide and nitrite levels in the OH+ group, and in the NADPH oxidase in OH- and OH+ groups when compared to the other groups. Conclusion. Our findings demonstrate that the overweight group with a family history of hypertension presented all the dysfunctions observed in isolation from these risk factors. We observed an exacerbation of cardiac sympathetic modulation and early prooxidants increase, which may be associated with target organ damage and cardiovascular risk in this population.

Aborted cardiac arrest during sport activity in a teenager diagnosed with short QT syndrome

Short QT syndrome is a malignant repolarisation disorder characterised by short QT intervals. We present a previously asymptomatic 14-year-old male patient with negative family history, who suffered a sudden cardiac arrest while playing basketball and diagnosed with short QT syndrome to make emphasis on the fact that although very rare patients with this syndrome may experience cardiac arrest during exercise.

Tinnitus With Unexpected Spanish Roots: Head and Neck Paragangliomas Caused by SDHAF2 Mutation

It is estimated that up to 40% of all head and neck paragangliomas (HNPGL) have a hereditary background with the most common mutations being found in the succinate dehydrogenase (SDH) genes. SDHAF2 mutation leads to the rare paraganglioma syndrome 2. The authors present the case of a 15-year-old male patient with 2, non-secretory HNPGLs, presenting with left-sided, pulsatile tinnitus, and hearing loss. Imaging led to the suspicion of a jugulotympanic paraganglioma on the left, as well as a carotid body tumor on the right. After resection of the jugulotympanic tumor, histology confirmed the presence of a paraganglioma; immunohistochemistry furthermore suggested a loss of SDHB expression. Genetic testing revealed a rare germline, loss-of-function mutation in the SDHAF2 gene, previously described to cause hereditary paraganglioma syndrome 2. Twenty months after the first operation, the patient underwent a resection of the right carotid body paraganglioma. Plasma-free metanephrines/catecholamines always remained within the reference range; the patient is under regular follow-up, and his relatives will be screened. Our findings emphasize the relevance of genetic testing in patients with HNPGL, also with negative family history, especially when the patients present at a young age and with multiple lesions.