Sibling History Research Articles

Development of a predictive model for pediatric atopic dermatitis: A retrospective cross-sectional nationwide database study

BackgroundThe rise in prevalence of atopic dermatitis (AD) has been correlated with numerous elements of the exposome, modern-day lifestyle, and familial history. The combined analysis of familial history and other risk elements may allow us to understand the driving factors behind the development of AD. ObjectiveTo develop prediction models to assess the risk of developing AD using a large and diverse cohort (N = 77,525) and easily assessed risk factors. MethodsWe analyzed electronic medical record data from Leumit Health System. Documented predictive factors include sex, season of birth, environment (urban/rural), socioeconomic status, household smoking, diagnosed skin conditions, number of siblings, a paternal, maternal, or sibling history of an atopic condition, and antibiotic prescriptions during pregnancy or after birth. Predictive models were trained and validated on the data set. ResultsMedium (odds ratio [OR] 2.04, CI 1.92-2.17, P < .001) and high (OR 2.13, CI 1.95-2.34, P < .001) socioeconomic status, a previous diagnosis of contact dermatitis (OR 2.57, CI 2.37-2.78, P < .001), presence of siblings with an AD diagnosis (OR 2.21, CI 2.04-2.40, P < .001), and the percentage of siblings with any atopic condition (OR 2.58, CI 2.09-3.17, P < .001) drove risk for AD in a logistic regression model. A random forest prediction model with a sensitivity of 61% and a specificity of 84% was developed. Generalized mixed models accounting for the random effect of familial relationships boasted an area under the curve of 0.98. ConclusionPredictive modeling using noninvasive and accessible inputs is a powerful tool to stratify risk for developing AD.

Acne Vulgaris Triggering Factors in Females at Nangarhar University Teaching Hospital

Background: Acne vulgaris is a common disease in teenagers. It is a chronic inflammatory condition of the pilosebaceous units. Objective: To see the effect of different factors like age, skin type, diet, cosmetics, family history and pornographic material on acne. Methods: This case-control study was conducted in the Dermatology Department of Nangarhar University Teaching Hospital, Nangarhar from August 2021 to March 2021. The study consisted on a sample of 120 subjects including 60 cases of acne and 60 controls. The data was entered in a structured close-ended questionnaire. Univariate and multivariate logistic regression was used to see the effect of different factors on acne. Results: Age was below 20 years in 68 percent of patients and 38% of controls. Amongst patients 12% and amongst controls 7% were married. Logistic regression analysis showed that age (p = 0.001), odds ratio (0.288), Confidence interval (0.136–0.612) siblings history (p = 0.007), odds ratio (2.786), confidence interval (1.329–5.841), skin type (p = 0.000), dry skin (p = 0.173), odds ratio (0.449), confidence interval (0.142–1.422), oily skin (p = 0.002), odds ratio (3.925), confidence interval (1.684 9.146), cola drinks (p = 0.048), daily drinks (p = 0.023), odds ratio (2.975), confidence interval (1.159–7.636), cosmetic used (p = 0.004), odds ratio (4.219), confidence interval (1.577–11.285) and frequency of application of cosmetics (p = 0.010), odds ratio (3.509), confidence interval (1.347–9.1)had significant effect on acne. Conclusion: Acne is a more common disease in teenagers; age greater than twenty plays a protective role against acne. Carbonated drinks, positive sibling history, cosmetic treatment and frequent use of cosmetics have a significant relationship with acne. It is more common in oily skin than dry and normal skin

Abstract P527: Acculturation and Family History Are Associated With Sleep Disturbances in US Americans of South Asian Origin

Introduction: Sleep disorders are an important risk for cardiovascular disease. Although the effects of sleep-disordered breathing have been widely studied in general populations, there is a gap in understanding its prevalence and determinants among South Asians in the United States of America (US), a group with high risk of cardiometabolic disease that presents unique genetic burdens and acculturation issues. We examined the association of family history of sleep disturbances and acculturation in a survey of South Asian immigrants. Methods: We surveyed 105 US South Asian participants (20-75 years, 69% male, 92% born in South Asia) recruited at a community event. Respondents provided information on age, gender, acculturation (measured by the adoption of English spoken at home), and family history of severe snoring in first degree relatives. We used a modified Berlin Sleep Questionnaire, where the obesity criterion was replaced with current diabetes to identify persons with high-risk sleep disturbances and asked about severe snoring in first degree relatives to identify family history of sleep disturbances. We examined the association of high-risk sleep disturbances with family history and acculturation metrics using Chi-squared tests, followed by logistic regression analysis. Results: Of the 105 participants, 28 (26.7%) were identified as high-risk for sleep disturbances. Those at high risk had a median age of 61 years, significantly older than their low-risk counterparts (median age 53; p=0.015). Of the 55% individuals who were acculturated to now speak English at home, 34% had high risk sleep disturbances as compared to 17% with sleep disturbances among those that continued to speak their native non-English language (p=0.044). Of the 10% individuals whose siblings had severe snoring problems, 50% had high risk sleep disturbances vs. 24% in those without sibling history (p = 0.079). In logistic regression models adjusting for age and gender, both sibling history (Odds Ratio 4.6, 95% CI 1.0 to 20.3, p = 0.047) and acculturation (Odds Ratio 3.0, 95% CI 1.1 to 8.6, p = 0.037) were associated with high-risk sleep disturbances. Conclusions: Acculturation as measured by adoption of English as the home language and family history of severe snoring are both associated with sleep disturbances among US South Asians in. Healthcare providers should be especially vigilant for sleep disorders in acculturated South Asian patients and those with such family and social history. Further studies are needed to understand the relationships between genetic predispositions, acculturation, and environmental factors in this population.

Abstract P398: Family History of Cardiovascular Disease and Hypertension Are Associated With Prevalent Disease in US Americans of South Asian Origin

Introduction: Cardiovascular disease (coronary artery disease and stroke, CVD) is a major health risk among the South Asian diaspora in the US. Factors like genetics and acculturation can influence the onset and progression of these diseases. Our study investigated the associations of acculturation and family history with CVD and a major CVD risk factor of hypertension (HTN) in US South Asians. Methods: We surveyed 105 US South Asian adult participants recruited at a community event. Respondents provided information on acculturation (measured by the adoption of English spoken at home), and family history of CVD and HTN in parents and siblings. Prevalence of CVD and HTN were compared between those with or without factors of interest. Multivariate logistic regression models were run for family history variables of interest, adjusted for age, gender, and English speaking at home. Results: Participants had median age 54 (range 20-75) years, and 69.2% were male. The Table shows the association of parental and sibling history of CVD and hypertension with having CVD or HTN personally, and the association of home language with these conditions. Multivariate adjusted logistic regression analysis found little attenuation, in that , sibling history of CVD remained significantly associated with personal CVD (p = 0.026), parental history of HTN remained significantly associated with personal HTN (p=0.004) and sibling history of HTN remained significantly associated with personal HTN (p=0.014). Conclusion: Among South Asians in the US, family history in 1st degree relatives, rather than language acculturation, is associated with personal CVD and HTN, suggesting a genetic burden. The stronger association of sibling history rather than parental history of CVD suggests a possible role of environmental or secular factors that siblings may share more than parents and offspring. In this population at high risk of CVD, careful recording of family history may help early prevention strategies.

Modifiable vascular risk factors contribute to stroke in 1080 NOTCH3 R544C carriers in Taiwan Biobank.

Previous studies have suggested cardiovascular risk factors increase the risk of not only common sporadic stroke but also of stroke in patients with monogenic stroke disorders including CADASIL. We investigated the effects of the NOTCH3 Arg544Cys (R544C) variant and associated vascular risk factors on stroke in the Taiwanese population. This study was conducted using data from the Taiwan Biobank, consisting of at least 130,000 Han Chinese participants. The genotype was derived from customized genome-wide arrays for 650,000 to 750,000 single-nucleotide polymorphisms (SNPs). Individuals with NOTCH3 R544C were subsequently matched with noncarriers based on the propensity score at a 1:10 ratio by demographic and cardiovascular risk factors. The odds ratio (OR) for stroke or other phenotypes in NOTCH3 R544C carriers and matched noncarriers was then calculated. Univariate and multivariate regression analyses were performed on cardiovascular risk factors in NOTCH3 R544C carriers with and without stroke. The polygenic risk score (PRS) model, adopted from the UK Biobank, was then applied to evaluate the role of NOTCH3 R544C in stroke. From the 114,282 participants with both genotype and questionnaire results, 1080 (0.95%) harbored the pathogenic NOTCH3 R544C variant. When compared to the matched controls (n = 10,800), the carriers presented with a history of stroke (OR: 2.52, 95% confidence interval (CI) (1.45, 4.37)), dementia (OR: 30.1, 95% CI (3.13, 289.43)), and sibling history of stroke (OR: 2.48, 95% CI (1.85, 3.34)) phenotypes. The risk of stroke increased with every 10-year increase in age (p = 0.006, Cochran-Mantel-Haenszel test). Among NOTCH3 R544C carriers, 16 (1.3%) of the 1080 carriers with a stroke history were older, male, and more likely to have hypertension, diabetes, dyslipidemia, and a family history of stroke. In the stepwise multivariate analysis, hypertension (OR: 11.28, 95% CI (3.54, 43.3)) and diabetes mellitus (OR: 4.10, 95% CI (1.31, 12.4)) were independently associated with stroke. Harboring the NOTCH3 R544C variant in the Taiwan Biobank is comparable with a 6.74 standard deviations increase in individual's polygenic risk score for stroke. While the NOTCH3 R544C variant alone increased the risk of stroke, modifiable vascular risk factors also played a role in the occurrence of stroke in Taiwanese community-dwelling individuals carrying the NOTCH3 variant.

Vitamin D-dependent Rickets Type II

The work aimed to present one case with vitamin D-dependent rickets type II, treated at Nasser Hospital – in the Gaza Strip. The patient was 3 years old with a body weight of 8.5 kg and a height of 90 CM. Skin color was cyanotic, but skin moisture was dry. Body temperature was 39 C from axillary; Turgor was warm and rough. The texture of vascularity was ecchymosis. The patient was on NGT and ETT and had alopecia in their hair. His Nails color was pale but was clubbing in shape. Deformity in the head and face; his eyes are symmetrical, but he is blind with corneal opacities bilateral, about ears are symmetrical auricles and gross hearing acuity. Mouth mucous membrane was moist but had ulcers and infection; teeth were missing, and tongues cyanotic and cracked. He has dysphagia, dyspepsia and hoarseness of voice. Full range of motion of the neck. Carotid pulsation rate 160 b/min symmetrical and bounding, cervical lymph nodes are enlarged and tender. Respiratory rate 40 b/min, barrel chest and abnormal breathing pattern. The patient complained of productive cough, on percussion, lung sound was dullness, but in auscultation, bilateral wheezy; apical heart rate was 140 b/min regular and strong. His blood pressure was 130/83 mm Hg. Capillary refill was 3 seconds. Normal heart sounds. The abdomen was soft and relaxed but distended. A genitalia was normal, About range of motion was limited and flaccid motor response.M. Aker 3 years old of cons. marriage 1st cousin, the second order of birth; the chief complaint was Rickets Type 2, which is badly responding to vit D. The Personal history of this disease was discovered when he was two months old with a history of sibling died at the age of 4 years (his sister), at birth. The patient was normal without any symptoms, and at the age of two months, he started the symptoms; 1st one was hair loss with fragile bone. With investigation, there is Vit D deficiency, so calcium supplement and Vit D were given; at the age of one year, the condition worsened, and bones were more fragile with bowing of legs, so doctors advised increasing the dose of Vit D and calcium with calciless treatment, but the immune system suppressed, and he got a lot of chest infections, so hospital admission many times with intravenous antibiotics, sometimes he was intubated on Mechanical ventilation in pediatric (I c u ), on 2 years, he was Oxygen-dependent then later he developed Respiratory Failure, at 3 year pt. was complaining severe chest infection and was intubated on Mechanical ventilation; unfortunately the child died at the age of 3 years.

Evaluation of Clinical and Oral Findings in Patients with Epidermolysis bullosa.

Introduction: Epidermolysis bullosa (EB) is a genetically inherited disease characterized by recurrent bullae and erosions on the skin with numerous signs of dental caries and poor oral hygiene. The aim of this study was to investigate the general clinical and oral findings of patients with EB. Materials and Methods: In this prospective study, the clinical and oral findings and family history of 26 cases with EB were evaluated. The type of EB, gender, age, parental consanguinity, dental caries, oral findings, distribution of lesions and presence of associated anomalies, clinical and oral findings correlated with gender were recorded. Results: All 26 patients with EB had a history of consanguinity and siblings with EB to varying degrees. In our study, malnutrition, anemia and growth retardation, gastrointestinal system complications, hair thinning, hand and nail deformity, ocular problems and renal disease (in one case) were observed with variable frequencies. When the intraoral findings of the patients were investigated, extensive dental caries in all EB types, enamel hypoplasia in junctional EB (JEB) and the presence of tooth-root to be extracted in dystrophic EB (DEB), intraoral bullae and lesions, ankyloglossia, vestibular sulcus insufficiency, microstomia and maxillary atrophy were observed. Three cases had restorative treatment and one case had prosthetic rehabilitation. Conclusions: Oral involvement can be seen with varying frequencies depending on the type of EB and the severity of the disease. It may result from delayed oral and dental rehabilitation due to physical disabilities, limitations and more pressing medical problems. Microstomy, pain from mucosal lesions, and restricted access to the mouth can be caused by poor oral hygiene. Oral complications and caloric needs of individuals with EB should be determined, and individual prophylaxis should be applied to prevent caries formation and protect teeth.

The Prevalence of Myopia and its Associated Factors Among School-Aged Children in Pamijahan Village, Bogor District

Globaly, the prevalence of refractive errors, especially myopia in children, has increased significantly. The cause of myopia is multifactorial. Near-work activities and family history are some suggested factors associated with myopia. However, there has not been enough data on these factors and their association with myopia in Indonesia. This study aims to determine the prevalence and factors associated with myopia in primary and middle schoolaged children in Pamijahan Village, Bogor District, West Java, Indonesia. Data were taken in a cross-sectional design based on the visual acuity, anterior and posterior eye examination. A 14-item questionnaire regarding myopia-associated factors including family history, playing outdoors, and near-work activities, was distributed to the subjects. The data were taken from June to September 2018. Analysis was conducted using SPSS version 20. The prevalence of myopia in Pamijahan Village is 4,9% out of 474 subjects. Family history, including parental (p=0.001, OR 4.49) and sibling history (p=0.001, OR 5.58), was shown to be associated with the increasing risk of myopia in children while near-work activities and playing outdoors were not associated with myopia in children of Pamijahan Village.

The Prevalence of Myopia and its Associated Factors Among School-Aged Children in Pamijahan Village, Bogor District

Globaly, the prevalence of refractive errors, especially myopia in children, has increased significantly. The cause of myopia is multifactorial. Near-work activities and family history are some suggested factors associated with myopia. However, there has not been enough data on these factors and their association with myopia in Indonesia. This study aims to determine the prevalence and factors associated with myopia in primary and middle schoolaged children in Pamijahan Village, Bogor District, West Java, Indonesia. Data were taken in a cross-sectional design based on the visual acuity, anterior and posterior eye examination. A 14-item questionnaire regarding myopia-associated factors including family history, playing outdoors, and near-work activities, was distributed to the subjects. The data were taken from June to September 2018. Analysis was conducted using SPSS version 20. The prevalence of myopia in Pamijahan Village is 4,9% out of 474 subjects. Family history, including parental (p=0.001, OR 4.49) and sibling history (p=0.001, OR 5.58), was shown to be associated with the increasing risk of myopia in children while near-work activities and playing outdoors were not associated with myopia in children of Pamijahan Village.

Acute appendicitis - One of the causes of peritonitis in newborn - A case report with literature review

INTRODUCTION. Acute appendicitis is the most common reason for abdominal surgery in children however in newborn and infants it’s casuistics. It is also the most common surgical emergency in pregnancy. Right lower abdominal pain, abdominal stiffness, and periabdominal pain radiating to the right lower abdomen are the best signs to diagnose acute appendicitis in adults. Absence Or attenuation of intestinal murmurs, positive sternal muscle signs, positive blunt signs, and positive Rovsing's Sign are the most reliable signs for the diagnosis of acute appendicitis in children. PURPOSE. The aim of the study is to show diagnostic difficulties of acute appendicitis in newborns and infants. It is one of the main differential diagnoses of unclear abdominal conditions. The smaller the child, the less characteristic the symptoms. A CASE REPORT. The study analyzes a male newborn born in the 37th week of pregnancy by caesarean section. Prenatal and family history of siblings' illnesses. In whom, on the 11th day of life, symptoms of food intolerance were found, green deposits were noticed in the stomach probe, and the presence of blood in the stool. Intraoperatively, gangrenous perforated appendix with diffuse peritonitis was found.Acute appendicitis is rarely considered in newborns and infants as the etiological factor of acute peritonitis. However, the presented patient with a genetic defect.CONCLUSION. Acute appendicitis is a common phenomenon in childhood, but this diagnosis is rarely considered in the differential diagnosis of acute abdomen in the neonatal period, is more common in premature babies. The clinical picture of neonatal acute appendicitis is unspecific and may lead to delayed diagnosis and misdiagnosis of necrotizing enterocolitis, which is a much more common condition in the neonatal period. We would like to present the diagnostic difficulties, course of treatment, and complications associated with neonatal appendicitis.

Higher Prevalence of Monogenic Cause Among Very Early Onset Inflammatory Bowel Disease in Children: Experience From a Tertiary Care Center From Northern India.

Very early-onset inflammatory bowel disease (VEO-IBD) is generally defined as onset of IBD at <6 years of age. Up to 20% of VEO-IBD may have a monogenic cause; hence, next-generation sequencing is highly recommended for diagnostic accuracy. There remains a paucity of data on VEO-IBD and the proportion of monogeneic causes in South Asia. We analyzed our tertiary care center experience of monogenic VEO-IBD from Northern India and compared them with nonmonogenic VEO-IBD to find out the factors that differentiate monogenic from nonmonogenic VEO-IBD. All children (<18 years of age) diagnosed with IBD between January 2010 to July 2021 were analyzed along with the next-generation sequencing data and functional assays when available. Clinical features and outcomes between monogenic and nonmonogenic VEO-IBD were compared. A total of 200 children with a median age of 15.3 (range, 0.17-17) years, 125 of whom were boys, were diagnosed to have IBD during the study period. VEO-IBD was seen in 48 (24%) children. Monogenic IBD was diagnosed in 15 (31%) children with VEO-IBD and 7.5% of all IBD cases. The causes of monogenic VEO-IBD included disorders of the immune system (including interleukin-10 receptor mutations) in 12 and epithelial barrier dysfunction in 3. Features that differentiated monogenic from nonmonogenic VEO-IBD were neonatal IBD, presence of perianal disease, IBD unclassified, history of consanguinity and sibling death, wasting, and stunting (P < .05). There were 6 deaths. One-third of participants were monogenic among Indian children with VEO-IBD, the highest proportion reported to date in the world. Next-generation (either exome or whole genome) sequencing should be recommended in a subset of VEO-IBD with neonatal onset, perianal disease, history of consanguinity and siblings' death, wasting, stunting, and IBD unclassified phenotype for an early diagnosis and referral to an appropriate center for hematopoietic stem cell transplantation for a better outcome.

Risk factors for severe hyperbilirubinemia and exchange transfusion in neonates

Background Neonatal jaundice is a common cause of neonatal admission to the hospital. The neonatal jaundice frequency has been increased last decade. 65% of term babies develop jaundice clinically in 1st week (in preterm babies 80%).Methods One hundred and sixty four neonates with severe hyperbilirubinemia, were enrolled in this study. Most important relevant informative data was taken during admission to the hospital. American Academy of Pediatrics (AAP) guidelines were applied in management of the patients, which was been either phototherapy or exchange transfusion with phototherapy ResultsMeanTSB level of 164 cases was 16.6mg/dl. TSB was significantly high in the male, with Rh-ve mothers and Rh+ve babies, more than 37weeks gestational age, admitted after 72 hours of life, were having history of previous siblings affected with jaundice and or received phototherapy and family history of hemolytic diseases. Phototherapy alone was used as treatment modality in most of the patients. On admission to the NCU, the mean age of the infants who needed exchange transfusion 4.97 ±2.24 while the mean TSB level was 20.2±2.84 mg/dL. The most common cause for ET was early discharge from the maternity unit & late admission to the NCU 72.4%. ConclusionsSevere hyperbilirubinemia was been more common in male neonates, > 37weeks of gestational age, with Rh-ve mothers and Rh+ve babies, who admitted after 72hrs of life, . Most of cases treated by phototherapy. The most common cause for ET was early discharge from the maternity unit & late admission to the NCU.

Association of autoimmune diseases with Alzheimer's disease: A mendelian randomization study

BackgroundAlzheimer's disease may have an autoimmune component, but the association is unclear. ObjectiveThe objective of this Mendelian randomization (MR) study was to evaluate the association of liability to autoimmune diseases with Alzheimer's disease. MethodsA systematic search was done using PubMed to identify autoimmune diseases that have been suggested as associated with Alzheimer's disease. Genetic predictors of these autoimmune diseases were obtained from the largest and most recent genome-wide association studies (GWAS). Genetic associations with clinically-diagnosed Alzheimer's disease were obtained from the International Genomics of Alzheimer's Project GWAS (21982 cases; 41944 controls); and with parental and sibling history of Alzheimer's disease from the UK Biobank GWAS (27696 maternal, 14338 paternal and 2171 sibling cases). MR estimates were obtained using inverse variance weighting, MR-Egger and weighted median. To address possible selection bias due to inevitably recruiting only survivors, the analysis was repeated in younger people, i.e., UK Biobank siblings and adjusting for competing risk of Alzheimer's disease. ResultsOf the 7 autoimmune diseases considered, liability to psoriasis and sarcoidosis were not associated with Alzheimer's disease. Some evidence was found for liability to multiple sclerosis being associated with higher risk and liability to Sjogren's syndrome with lower risk of Alzheimer's disease. Associations found for liability to giant cell arteritis, type 1 diabetes and rheumatoid arthritis were inconsistent in sensitivity analyses. ConclusionLiability to multiple sclerosis and Sjogren's syndrome could be associated with Alzheimer's disease. The underlying mechanisms, such as the role of myelin and neuroinflammation, should be further investigated.

The Determinants of Parental Uptake of Childhood Immunization in Peri-Urban Areas of Karachi - A Cross-Sectional Study

Background: Immunization is one of the simplest and cost-effective ways to protect a child from infectious diseases and mortality worldwide, and while global immunization coverage has increased dramatically the impact is low in developing countries like Pakistan, where many children remain unvaccinated or partially vaccinated. Aim: To determine the potential factors related to parents that impact the uptake of immunization in children living in the peri-urban area of Karachi, Pakistan. Methodology: An analytical cross-sectional study was conducted between Oct 2020 to May 2021. Purposive sampling technique based on the inclusion and exclusion criteria was used and a total of 100 parents of children were interviewed using the self-developed structured questionnaire focusing on factors like socio-demographic, parental health-seeking behavior, parental knowledge and perception of immunization and the reasons why a child is partially immunized. The data was collected from two EPI centers from the peri-urban area of Karachi to determine the parental factors associated with child immunization. Results: The results of the study show association between Child immunization and father occupation (p=0.000), parental education (p=0.000) and household income (p-value=0.000). history of sibling’s complete vaccination 35(70%), frequency of maternal antenatal visits 41(82%) accompanied by the husband 37 (74%) and have delivered the child in hospital 50(100%) by an obstetrician 50 (100) and for medical treatment child is always taken to a hospital 47(94%). Parents who consider vaccination important 48 (86%) with the significance of (p=0.001) and they have awareness regarding the total number of immunizations 38(76%) have fully immunized children. Conclusion: According to the study, parental education, occupation, income, health-seeking behavior, father’s involvement, child birth-related factors, parental awareness on immunization, perception of immunization Keywords: Immunization coverage, EPI, Parental factors, Peri-Urban, Sindh, Fully Immunized, Partially Immunized

Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil.

TheBacille Calmette-Guérin(BCG) vaccine is routinely applied in Brazil. Adverse events (AE) mayoccur in patients with inborn or acquired immunodeficiencies, varying between local (BCGitis) or disseminated (BCGosis) reactions. We evaluated 53 individuals with local or disseminated adverse events to BCG vaccination to assess if they had inborn errors of immunity (IEI). Patients diagnosed with an adverse event following BCG vaccination between 2014 and 2017 were included in the study. We collected clinical data, immunophenotyped T and B lymphocytes, and natural killer cells (NK), assessed oxidative function of neutrophils through dihydrorhodamine (DHR) 123 testing, and genotyped 361 genes related to IEI through targeted (panel) sequencing. The median age of the 53 individuals was four months (IQ 1.5-12), and 52.8% were male. Forty-eight (90.6%) individuals presented only locoregional AE and five (9.4%) presented both locoregional and disseminated AE. Nine (16.9%) patients were diagnosed with an IEI. Four of them presented BCGitis and five presented BCGosis after BCG vaccination. Clinically, four presented chronic granulomatous disease (CGD), three Mendelian susceptibility to mycobacterial disease (MSMD), and two severe combined immunodeficiency (SCID). Patients with IEI had a higher frequency of systemic symptomatology (p = 0.002), history of other infections (p < 0.001), parental consanguinity (p = 0.01), familial history of sick siblings (p < 0.001), or early deaths in the family (p < 0.01). There is a high frequency of IEI in patients with locoregional and disseminated adverse events to BCG vaccination, revealing the need for the investigation of IEI accompanied by clinical and familial inquiry.

O-082 Patients are requesting to ship their surplus frozen embryos to other countries so that they can be donated to other patients

Abstract Study question Can all patients decide on the destination of their frozen embryos? Summary answer Patients that don’t have the legal right to donate their surplus embryos, still have the opportunity to ship them to centres in Spain What is known already In most European countries the laws do not allow patients to decide on the destination of their surplus vitrified embryos. In Spain, however, all possible options are allowed but certain requirements must be met for each of them: donation, research and destruction. Even though, most couples do not decide on any of them and do not reply to the documents they receive from the Centre. The reasons for this behaviour are not due to an irresponsible attitude but to the fact that it presents them with a difficult situation, which triggers emotional conflicts. Study design, size, duration The goal of this study is to communicate that since 2018 we have received embryo shipment requests from people who have stored their surplus embryos in other countries, where they cannot donate them. We have evaluated 47 cases and accepted 17 from Italy, Belgium, Ireland and Greece. We evaluated the survival rate after thawing and pregnancy rates, and compared them with the results of surplus embryos that have been donated in our Centre. Participants/materials, setting, methods We received applications from patients from different countries. Given the legal difficulties, we only evaluated those from European Community countries. In order to accept the transfer, we require that they meet all the requirements to be “donation eligible”: clinical history and phenotypic features of parents and siblings born from that cycle, serology results prior to treatment, age under 35 years, good embryo morphology score, and all the information from the embryology laboratory of the Centre. Main results and the role of chance According to our Centre's data, only 3% of patients choose to donate their surplus vitrified embryos to others. In a retrospective review of the informed consents of a total of 5,605 IVF cases in which the patients had frozen supernumerary embryos we found that there are no significant differences in this percentage according to the biological origin of the embryos, neither if a couple or a single woman carried out the treatment. Differences are observed between patients from European countries that are close to each other and which are evidence of the idiosyncrasies of each culture. Donation is chosen by 3% of patients from Spain and the UK, 4% from France, 5.5% from Italy, 6% from Germany, 7% from Ireland. We surveyed patients about their reasons for choosing the destination of their embryos: the main reason why they rejected the possibility of donating embryos was the fear that in the future, their children might meet their biological siblings. In these 17 cases that have been shipped from other countries, blastocyst survival rate after thawing was 90% (compared to 97% in donated embryos in our Centre) and pregancy rate was 56% (compared to 59% in our Centre). Limitations, reasons for caution We don’t know the percentage of patients that would agree to donate their cross-border embryos, and most of them are not even aware of this possibility. They concur in a high socio-economic-cultural level that allows them to be informed and if they are accepted, they must pay the shipment fees. Wider implications of the findings We wonder whether all european patients that are interested in donating their embryos and that won’t resign to abandon them should be informed of this possibility. So far, we have had exquisite cooperation from the centres where they remain vitrified. May globalisation allow them to exercise their generosity! Trial registration number Not applicable

Epidemiological profile of different hemoglobinopathies in pediatric age group (6 months-14 years) in south Odisha

This hospital based cross-sectional study describes the number of hemoglobinopathies in the population of southern Odisha during the study period and distribution of each group of hemoglobinopathy found in the study according to their age, sex, clinical signs &amp; symptoms, history of consanguinity of marriage of parents, history of previous blood transfusion, history of siblings, socioeconomic status of the family, blood groups &amp; hematological parameters.

The effects of community clustering on under-five mortality in India: a parametric shared frailty modelling approach

The study of the effect of community clustering of under-five mortality has its implications in both research and policy. Studies have shown the contribution of community factors on under-five mortality. However, these studies did not account for censoring. We examine the presence of community dependencies and determine the risk factors of under-five mortality in India and its six state-regions by employing a Weibull hazard model with gamma shared frailty. We considered every possible way to ensure that the frailty models used in the study are not merely a consequence of how the data are organized rather than representing a substantive assumption about the source of the frailty. Data from the fourth round of the National Family Health Survey has been used. The study found that except for south India, children born in the same community in India and the other five state-regions shared similar characteristics of under-five mortality. The risk of under-five mortality decreased with an increase in mother’s schooling. Except for northern region, female births were less likely to die within first five years of life. We found a U-shaped relationship between preceding birth interval and under-five mortality. History of sibling’s death, multiple births and low-birthweight significantly increases the risk of under-five mortality in all the six state-regions. The Hindu–Muslim mortality gaps and Scheduled Caste or Tribe’s mortality disadvantage is diminishing. Since the factors associated with under-five mortality were not necessarily the same across the six state-regions of India, adopting a uniform approach in dealing with under-five mortality in India may not benefit all the regions equally.

The association of cardiovascular mortality with a first-degree family member history of different cardiovascular diseases.

OBJECTIVETo investigate which history of cardiovascular disease [coronary heart disease (CHD), stroke, or peripheral arterial disease] in a first-degree family member predicts cardiovascular mortality.METHODSWe studied a prospective cohort (the Lipid Research Clinics Prevalence Study) from ten primary care centers across North America. The primary outcome was cardiovascular mortality, assessed using Cox survival models.RESULTSThere were 8,646 participants (mean age: 47.4 ± 12.1 years, 46% women, 52% of participants with hyperlipidemia) who were followed up for a mean duration of 19.4 ± 4.9 years. There were 1,851 deaths (21%), including 852 cardiovascular deaths. A paternal, maternal or sibling history of premature CHD (before 60 years) was present in 26% of participants, of stroke in 27% of participants, and of peripheral arterial disease in 24% of participants. After adjusting for risk factors (age, sex, systolic blood pressure, diastolic blood pressure, body mass index, smoking, fasting glucose, low-density lipoprotein cholesterol and triglycerides), only a paternal history of premature or any CHD, a maternal history of diabetes mellitus or premature or any CHD, and a sibling history of premature CHD, hypertension, or hyperlipidemia were individually predictive of cardiovascular mortality. After adjusting for risk factors and the mentioned familial factors, only paternal and maternal histories of CHD, especially before 60 years, remained predictive of cardiovascular mortality, with a somewhat higher association for a maternal history [adjusted hazard ratio (aHR) = 1.99, 95% CI: 1.36−2.92,P < 0.001 for maternal history of premature CHD; aHR = 1.52, 95% CI: 1.10−2.10, P = 0.011 for paternal history of premature CHD]. Family history of stroke or peripheral arterial disease did not predict cardiovascular mortality. Parental history of premature CHD predicted cardiovascular mortality independently of baseline age (< 60 years and ≥ 60 years), hypertension, or hyperlipidemia and carried more important prognostic value in men rather than women. CONCLUSIONSIn this study, a parental history of CHD, especially before 60 years, best predicted cardiovascular mortality. This finding could help more accurately identify high-risk patients who would benefit from preventive strategies.

Beta-thalassemia mutation types and the relationship with the demographic factors in Sanliurfa, Turkey

Introduction: Beta-thalassemia is an autosomal recessive disease that occurs as a result of a disorder in the (β-globin chains synthesis), and the gold standard method for diagnosis is genetic mutation analysis. It is important to know the distribution of mutations according to regions and races. The aim of this study is to document the mutations in the beta-globin gene of beta-thalassemia major and intermedia patients who were followed and treated in Sanliurfa province, and to examine the relationships between these mutations by defining them according to gender, nationality, consanguineous marriage, history of disease in siblings and blood type.Methods: The files of 272 patients diagnosed with beta-thalassemia major and intermedia followed up in the Pediatric Hematology-Oncology outpatient clinic of Sanliurfa Training and Research Hospital between August 2016 and August 2017 were retrospectively reviewed and mutation analyzes were documented. Coding exons and exon-intron junction regions of beta globin-HBB gene were amplified by PCR method and then DNA sequencing was performed. Gender, nationality, consanguineous marriage, sibling history and blood type information were recorded.Results: Out of 272 patients, 94.1% were thalassemia major and the others were thalassemia intermedia. Approximately one third of the patients (30.1%) were foreign nationals. A total of 27 different mutations in the beta-globin gene were detected. The most common mutation is IVS-I-110 c.93-21 (G&amp;gt; A) (23.1%), which is followed by IVS-I-1 c.92 + 1 (G&amp;gt; A) (15.8%) and Codon 39 c.118 (C&amp;gt; T) (11.5%). One hundred and forty-two individuals (52.2%) had no sibling history, while 103 (37.9%) had one sibling and 27 (9.9%) had two siblings with thalassemia disorder. First-degree, second degree and third degree consanguineous marriages were present in 42.6% (n = 116), 8.1% (n = 22), 11% (n = 30) of parents, respectively.Conclusions: Beta-thalassemia disease is a common hematological condition in Sanliurfa. Approximately one-third of the patients who apply are foreign nationals. Correct identification of beta-globin gene mutations will guide genetic counseling and preventing prenatal disease. This data can contribute to the national thalassemia prevention program in Turkey.