bluuebunny/crossref_metadata_2025_split huggingface dataset:
PB2393 FROM NON‐TRANSFUSION DEPENDENCY TO TRANSFUSION DEPENDENCY: LIGHTS AND SHADOWS IN THALASSEMIA
Authors: Ricchi P. , Meloni A. , Pistoia L. , D’Ascola D. , Pitrolo L. , Barone A. , Sanna P. M. G. , Cuccia L. , Righi R. , Peritore G. , Positano V. , Pepe A. 
Published: June 2019

Background:Patients with non‐transfusion dependent thalassaemia (NTDT) can be placed on regular transfusional therapy either for the prevention or for the management of different complications.Aims:We retrospectively evaluated the effects of blood transfusions (BT) in the real‐life and quite extensive context of the Myocardial Iron Overload in Thalassaemia (MIOT) network where most of biochemical, cardiac, hepatic parameters and morbidities typical of the NTDT patients could be analysed and compared in a chronologically manner.Methods:147 NTDT patients (46.49 ± 12.27 years; 92 females) who started regular BT at the mean age of 21.84 ± 17.85 years were considered. Magnetic Resonance Imaging (MRI) was used to quantify iron overload (T2∗ technique) and biventricular morphological and functional parameters (cine sequences).Results:For the 40% of the patients there were more than two indications for the transition to regular BT, with anemia being present in the 92.5% of the cases. The patients reached a pre‐transfusion hemoglobin of 9.64 ± 0.72 g/dl.The percentage of chelated patients increased significantly after starting regular BT (52.5% vs 91.7%; P < 0.00001).Table 1 shows the changes (6 months before vs 6 months after starting regular BT) in the haematochemical and iron‐overload parameters. A down‐regulation of all erythropoietic and/or haemolysis indices and a drop‐in platelets and white blood cell count were detected. No changes in serum ferritin, MRI liver iron concentration (LIC) and global heart T2∗ values were detected.There was a significant decrease of the left ventricular end‐diastolic volume index (101.58 ± 19.67 ml/m2 vs 91.65 ± 20.99; P = 0.050).After the start of regular BT, patients were followed‐up for 24.08 ± 15.62 years. There was a significant increase in the frequency of endocrinopathies (diabetes, hypogonadism, hypothyroidism and osteopenia), bone pain, infections, and alloimunization, but their prevalence remained lower than 20%.A positive impact on patients’ health‐related quality of life was detected, with the sense of well‐being passing from 16.4% to 73.0% (P < 0.0001).Summary/Conclusion:Following the use of regular BT and chelation therapy, only a mild increase in most of the complications evaluated in the analysis was recorded; we cannot exclude that it could be ascribable to aging per se, as it happens for general population. No increase in iron overload parameters was detected and conversely, we recorded a positive cardiac remodelling. Therefore, in the Italian context, the decision to regularly transfuse patients with NTDT, despite sometimes complex and problematic, may represent a way to prevent or slow down the natural progression of the disease and improve the patients overall quality of life.image
PB2405 PHENOTYPES AND GENOTYPES OF HEMOGLOBINOPATHIES IN AZERBAIJAN
Authors: Asadov C. , Aliyeva G. , Mikayilzadeh A. , Mammadova T. , Gafarova S. , Abdulalimov E. , Guliyeva Y. 
Published: June 2019

Background:Azerbaijan is located in Transcaucasia, which is a high prevalent region of hemoglobinopathies. Besides β‐thalassemia, the local population is also known for the presence of α‐thalassemia and some hemoglobin variants. Several previous studies reported the incidences of α‐thalassemia and hemoglobin variants such as HbS, HbE and HbD, as well as incidence rate and mutation spectrum of β‐thalassemia in the local population. Nevertheless, these were mainly conducted in small study groups and they were limited on β‐globin genotyping, which necessitated a large‐scale screening and genotyping to reveal phenotypes and mutational background of all common hemoglobinopathies in Azerbaijan.Aims:The aim of our study was to screen a large sample of population in order to reveal the prevalence of thalassemias and variant hemoglobins as well as their mutational background in Azerbaijan.Methods:The sample group included 436,144 individuals (population = 9,982,952) applying for marriage certificate, which were screened via Thalassemia Prevention Program of Azerbaijan. Premarital screening of thalassemia is mandatory since 2015, covering almost all areas of the country. Total hemoglobin (Hb) levels, red blood cell indices and Hb pattern analysis were evaluated in all samples. Genotyping of selected samples were performed via reverse dot blot hybridization and sequencing techniques.Results:The screening of more than 4% of the population revealed following carrier frequencies of hemoglobinopathies: α‐thalassemia – 10.1%, β‐thalassemia – 3.71%, HbS – 0.082%, HbC – 0.382%, HbE – 0.087% and HbD Punjab – 0.068%. The frequency of α‐thalassemia was calculated via Hardy–Weinberg equation, based on the count of individuals with HbH. Genotyping of the carriers revealed 33 β‐thalassemia and 9 α‐thalassemia mutations. The most common β‐thalassemia mutations were frameshifts and mRNA processing mutations accounting for β0 phenotype: Codon 8 [‐AA] – 34.7%, IVS‐II‐1 [G > A] – 16.7%, IVS‐I‐110 [G > A] – 9.7%, Codon 8/9 [+G] – 4.8%, and Codon 36/37 [‐T] – 4.3% (N = 1252). The most prevalent α‐thalassemia mutations, on the other hand, were deletions accounting for milder phenotype of HbH disease: 20.5 kb DEL – 43.8% and 3.7 kb DEL – 35.4% (N = 144).Summary/Conclusion:This is the largest study to date evaluating phenotypic and genotypic diversity of hemoglobinopathies in Azerbaijan, and we hereby provided the first report on carrier frequencies of hemoglobin variants in the country. The screening and genotyping results revealed that hemoglobinopathies are highly heterogenous in Azerbaijan. β‐Thalassemia, although accounts for a lower frequency comparing to α‐thalassemia, is associated with severe phenotypes, including the possibility of coinheritance with clinically significant variants as HbS and HbE.
PB2410 DEPRESSION AMONG CAREGIVERS OF CHILDREN WITH THALASSEMIA MAJOR
Authors: Sen S. , Sen S. , Tulpule S. , Mullanfiroze K. , Gupta S. 
Published: June 2019

Background:Caregivers of patients with thalasemia devote a significant proportion of their time to meet their ongoing medical needs. This can adversely affect the time dedicated to their other children, and as carriers of the disease, they may be burdened significant feelings of guilt and inadequecy. We evaluated symptoms of depression among parents of these patients by PHQ‐9, a well validated screening tool for assessing depression.Aims:To determine the incidence of mental health issues among caregivers of children with thalassemia.Methods:Parents and caregivers of patients with thalassemia in a Haemoglobinopathy Clinic were screened over a 2‐month period using the Patient Health Questionnaire (PHQ‐9). Responses were tabulated and analysed and the responses from male and female caregivers were analysed and compared separately.Results:Parents of of 98 thalassemia patients were screened during the study. Responses were obtained from 75 fathers and 98 mothers of patients. Overall among all parents, 34% screened positive for minor or major symptoms of depression. Among the fathers, 34% had minor symptoms on screening, but none had any symptoms of major depression. Whereas, among the mothers, only 11% had minor symptoms with 24% had major symptoms. In fact, in this cohort 7% of mothers had severe major depression. No thoughts of self harm were voiced by any caregivers, but 80% of fathers voiced feelings of inadequacy and 34% mentioned anger issues. In contrast, feelings of inadequacy or anger issues were voiced by only 14% of mothers.Summary/Conclusion:Our study showed that almost a third of parents of children with thalassemia were suffering from depression and we recommend all parents should have access to proper counselling, with active screening and access to appropriate services. It was concerning to note that mothers were more liable to major depression requiring therapy. Though fathers were noted to have less severe symptoms of depression, more than 80% harboured feelings of guilt and inadequacy. As physicians, we need to be actively aware of the mental health issues of thalassemia parents and be vigilant to help them access appropriate services as required.
PB2436 PLATELET GLYCOPROTEIN (GP IIB/IIIA) GENE POLYMORPHISM AS A RISK FACTOR FOR ISCHEMIC CEREBRO VASCULAR STROKE
Authors: Abdelhamid D.A.E. Saad , Attia F.M. , Hosny A.O. , Elsamahy M. Abdelfatah , Ibrahiem G.A. , Abdelhamid M.A.S. 
Published: June 2019

Background:Recent data which indicate considerable variability in platelet phenotype which accounts for differences in platelet surface receptor function, count and reactivity with subsequent thrombotic events. The identification of a contribution by platelet glycoproteins polymorphism to Ischemic cerebrovascular stroke which is a multifactorial, polygenic pathological process is challenging.Aims:Assessment of the genetic platelet glycoprotein (GPIIb/IIIa) polymorphism, as a genetic risk factor in ischemic cerebrovascular stroke patients in Ismailia, Egypt.Methods:Study population included: Fifty adult ischemic cerebrovascular stroke patients (acute, recent or old) and fifty‐healthy control group matching the patients group. Hematological and biochemical; Molecular assessment included DNA extraction and purification using micro‐centrifugation technique were done. DNA amplification was carried out by PCR‐RFLP technique. Genotypic determination of the platelet GPIIb/IIIa genotypes was carried out using agarose gel electrophoresis of the PCR products after endonuclease restriction with enzyme Msp‐I.Results:Platelet glycoprotein GP IIIa (PlA2/A2) genotypic distribution showed a statistically significant difference in ischemic cerebrovascular stroke patients in comparison with the healthy matched controls (the control group: GPIIIa (PlA1/PlA1: homozygous) 82%, GPIIIa (PlA1/PlA2 heterozygous) 16%, GPIIIa (PlA1/PlA1), and GPIIIa (PlA2/PlA2 homozygous) 2%.While the patients group: GPIIIa (PlA1/PlA1: homozygous) 58%, GPIIIa (PlA1/PlA2 heterozygous) 32%, GPIIIa (PlA1/PlA1), and GPIIIa (PlA2/PlA2 homozygous) 10%. There were statistically significant differences in between study groups regarding Platelet GP IIIa (PlA2/A2)genotypes, smoking, hypertension, diabetes, and dyslipidaemia; dyslipidaemia showed the highest odds ratio of all the risk factors.Summary/Conclusion:Conclusions: In this population, the genetic platelet glycoprotein GPIIIa (PlA1/PlA2) polymorphism is a reliable and significant predictor biomarker in the prediction of ischemic cerebrovascular stroke and the platelet glycoprotein GPIIIa (PlA2/PlA2) mutant allele was identified as a risk factor ischemic cerebrovascular stroke.image
PB2445 PRE‐TRANSFUSION IMMUNOHEMATOLOGY TESTING INTERFERENCE WITH DARATUMUMAB: PRELIMINARY EXPERIENCE FROM THE FIRST PATIENTS TREATED AT ASST GOM NIGUARDA
Authors: Cuppari I. , Crocchiolo R. , Boiani E. , Cafro A. , Bertazzoni P. , Soldarini M. , Pugliano M. T. , Volpato E. , Rossini S. 
Published: June 2019

Background:Daratumumab is a human anti‐CD38 monoclonal antibody approved for the treatment of relapsed or refractory multiple myeloma (MM). Due to the physiological presence of the antigen CD38 on the red blood cell (RBC) membrane, Daratumumab (DARA) inteferes with the classical pre‐transfusion tests, impairing the identification of potential auto‐ or alloantibodies whenever present. The duration of this interference has been reported to be of 2‐6 months after the last DARA administration [Oostendorp M, Transfusion 2015].Aims:The present analysis aims at evaluating the duration of DARA‐related pre‐transfusion testing interference after the end of treatment at our Center, in order to better define an optimal strategy to assign compatible packed RBCs for transfusion therapy.Methods:According to our policy, all patients were typed for AB0, full Rh phenotype, K/k, direct/indirect antiglobulin tests and extended sierological RBCs typing before starting with DARA [2016 SIMTI recommendations]; the identification of compatible packed RBCs was obtained after crossmatching using dithiothreitol‐treated patient's blood sample.Results:From October 2017, a total of n = 7 MM patients received DARA at a median age of 68y (range: 50‐79); median number of previous therapeutic lines was 3 (range: 1‐7) and the median number of weekly administrations was 7 per patient (range: 1‐12). Two patients are still receiving DARA (1 and 12 administrations respectively). As expected, both direct and indirect antiglobulin tests were positive for all patients; moreover, one patient had also a well‐identified allo anti‐D antibody. Among the n = 5 ongoing patients, n = 4 are evaluable because they underwent the subsequent pre‐transfusion tests after the end of DARA treatment: n = 1 still presents interference 50 days after the end of DARA whereas interference disappeared in n = 3 patients at 48, 65 and 111 days after the last treatment.Summary/Conclusion:Our preliminary data confirm the persistence of DARA‐related pre‐transfusion testing interference after the end of treatment for a median period of 2 months in this cohort of MM patients treated at our Institution. Futher follow‐up and the analysis of additional patients in the next future will allow to better determine the duration of interference; we believe these data are worthy of note due to increasing use of DARA, even for other clinical situations [Chapuy CI, NEJM 2018; Kwun JEB, Am J Transplant 2017]
PB2448 REASONS FOR BLOOD DONOR DEFERRAL AMONG VOLUNTARY BLOOD DONORS IN A TERTIARY CARE HOSPITAL IN KATHMANDU, NEPAL
Authors: Nepal B. 
Published: June 2019

Background:Ensuring the wellness of the voluntary blood donor is the main purpose of the donor deferral. It also minimizes the unwanted symptoms that may appear among blood donor recipient.Aims:To analyse the reasons for blood donor deferral among voluntary Blood Donors In A Tertiary Care Hospital In Kathmandu, NepalMethods:This is the retrospective study carried out among voluntary blood donors at Grande International Hospital, a tertiary care hospital in Kathmandu, Nepal from January 2013 to January 2015.Results:The data were collected from previous records of the blood donor history forms. From a total of 8,550 blood donations, 302(3.53%) blood donor were deferred due to various reasons. Among all the deferred blood donors 189(62.58%) were female where as 113(37.42%) were male. Furthermore, 289(95.69%) were temporarily deferred and 13(4.31%) were permanently deferred. The mean age of deferred blood donor was 35 years.Out of total blood donor deferral; 101(33.48%) donor were rejected because of bed side hypertension (i.e. blood pressure‐ systolic > 140 and diastolic >90 mm hg) which was followed by anaemia(i.e. haemoglobin < 12 gm/dl) 94(31.12%), vaccinations history 43(14.23%), hypotension (i.e. Systolic < 90 mm hg and diastolic < 60 mm hg) 35(11.58%), dental examination 10(3.32%) and medication history 6(1.98%). Permanent deferral namely, risk factor involving transfusion transmitted infections and chronic disease were 5(1.65%) and 8(2.64%) respectively. The prime cause of permanent deferral was risk factor involving transfusion transmitted infections while the temporary deferral was bed side hypertension. Gender wise, the leading cause of donor deferral in male was bed side hypertension and anaemia was the major cause in female.Summary/Conclusion:The findings of the survey aid to evaluate the significant causes of blood donor deferral. This study suggests that the restrictive criteria can be used for blood donor selection. This will in turn increase the blood supply of tertiary care hospital.
Ceftriaxone Reduced Susceptible Neisseria gonorrhoeae in the Netherlands, 2009 to 2017: From PenA Mosaicism to A501T/V Nonmosaicism
Authors: de Laat Myrthe M. , Wind Carolien M. , Bruisten Sylvia M. , Dierdorp Mirjam , de Vries Henry J.C. , Schim van der Loeff Maarten F. , van Dam Alje P. 
Published: June 2019

Objectives
To compare molecular and epidemiological differences between ceftriaxone-reduced susceptible (CRO-RS) and ceftriaxone-susceptible (CRO-S) N. gonorrhoeae (Ng) and to study the genetic relatedness of CRO-RS isolates.

Methods
Demographic and clinical data and samples for cultures were routinely collected from gonorrhoea patients visiting the Amsterdam STI clinic in 2009 to 2017. Ng multiantigen sequence typing (NG-MAST) and penA types were compared between CRO-RS and CRO-S Ng (frequency matched on year of isolation and sexual risk group). Minimum spanning trees were produced based on multilocus variable number of tandem repeats analysis for Ng (NG-MLVA) genotypes.

Results
We selected 174 CRO-RS isolates (minimum inhibitory concentration, ≥0.064 mg/L) and 174 CRO-S isolates (minimum inhibitory concentration, ≤0.016 mg/L). Demographic and clinical characteristics of patients were overall comparable between those infected with CRO-RS Ng and CRO-S Ng. However, CRO-RS isolates were more often collected from the pharyngeal site (odds ratios [OR], 3.64; P < 0.001), and patients with CRO-RS Ng were less often human immunodeficiency virus (HIV) and syphilis positive (OR, 0.63; P = 0.041 and OR, 0.58; P = 0.028, respectively). We identified 12 clusters based on NG-MLVA genotypes, including 3 large (>25 isolates) clusters predominantly containing CRO-RS isolates. Those from cluster 1 (n = 32) were mostly from 2009 to 2012 (n = 24; 75.0%), with a mosaic penA XXXIV pattern (n = 27; 84.4%) and belonging to NG-MAST genogroup G1407 (n = 24; 75.0%). Isolates from cluster 2 (n = 29) were mostly from 2013 to 2015 (n = 24; 82.7%), had a nonmosaic penA IX + A501T mutation (n = 22; 75.9%) and NG-MAST G2400 (n = 14; 48.3%). Most isolates from cluster 3 (n = 37) were from 2015 to 2017 (n = 26; 70.2%), had a nonmosaic penA IV + A501V mutation (n = 24; 64.9%) and NG-MAST G2318 (n = 22; 59.5%).

Conclusions
We observed a shift in the predominant penA (from mosaic toward nonmosaic plus A501T/V mutation), NG-MAST and NG-MLVA types among CRO-RS Ng over time. This indicates a successive spread of different CRO-RS Ng clones.
Parent Intent and Willingness to Immunize Children Against Influenza in the Pediatric Emergency Department
Authors: Hart Rebecca J. , Paul Ronald I. , Levine Alex , Sikes Kendra , Bryant Kristina , Stevenson Michelle D. 
Published: June 2019

Objectives
To determine rates of influenza immunization among children treated in a pediatric emergency department (ED) and to ascertain parent willingness for children to receive influenza vaccine (IV) in the ED.

Methods
Interviews were conducted with parents of children 6 months or older evaluated in the ED for minor illness or injury. Demographic data, IV history, and intent and willingness to receive future IV were recorded during the summer of 2013. Participants were contacted in March 2014 to assess IV status, barriers to obtaining IV, and willingness to obtain IV in the ED. Chart review determined number of patients who were at high risk.

Results
Of 457 families approached, 285 (62%) were enrolled. Two hundred forty-two (85%) intended to vaccinate; 83% reported willingness to receive IV at a future ED visit. Common reasons for not receiving IV were concerns about adverse effects (31%) and lack of time or interest (24%). Of the 224 participants (79%) reached in follow-up, 112 (50%) had received IV in the prior season. Among those who did not receive IV, 65 (66%) had intended to vaccinate, and 54 (55%) indicated they would have accepted IV in the ED. Fifty-three (54%) of unvaccinated patients at follow-up had high risk of influenza complications.

Conclusions
Our data support an IV program in the pediatric ED as a means of increasing vaccination rates, particularly among high-risk patients. Parents are often concerned about adverse effects of IV, and providers should target education in this area.
Documenting Physical Therapy Dose for Individuals With Cerebral Palsy: A Quality Improvement Initiative
Authors: Bailes Amy F. , Strenk Mariann L. , Quatman-Yates Catherine , Hobart Jessica , Furnier Adam 
Published: June 2019

Purpose:
To describe the quality improvement (QI) activities used to improve treatment dose documentation for individuals with cerebral palsy (CP) and to discuss insights gained from this project.

Methods:
Global and smart aims were established and interventions were tested from January 2017 through February 2018 using Plan-Do-Study-Act cycles. Performance was tracked overtime using run and control charts.

Results:
The QI initiative resulted in a sustainable increase in percentage of dose elements present in the electronic medical record from 78% to 94%. Key drivers of improvement included (1) knowledge and awareness of dose, (2) clinician buy-in, (3) effective engagement of child and parent, (4) therapist knowledge of evidence-based treatments, (5) transparent and reliable documentation system, and (6) audit and clinician feedback.

Conclusions:
QI methods provided the tools to improve workflow and increase dose documentation for individuals with CP.
Increases in Postmastectomy Reconstruction in New York State Are Not Related to Changes in State Law
Authors: Gooch Jessica C. , Guth Amber , Yang Jie , Zhu Chencan , Park Jihye , Telem Dana , Bui Duc , O’Hea Brian , Khan Sami 
Published: June 2019

Background:
Postmastectomy reconstruction remains underused. In 2011, new legislation in New York State mandated discussion of reconstructive options before mastectomy. This study assesses the impact of this policy on immediate breast reconstruction rates.

Methods:
The Statewide Planning and Research Cooperative System database was queried to identify women undergoing mastectomy from January of 2005 to October of 2015 and follow them for at least 1 year postoperatively to determine the incidence and timing of reconstruction. Demographic and socioeconomic characteristics were collected. Chi-square test and multivariable logistic regression were used to compare periods before (2005 to 2010) and after (2011 to 2015) the legislative change.

Results:
Of 52,837 records, there were 24,340 patients (46 percent) who underwent immediate breast reconstruction. The incidence of immediate breast reconstruction increased over the study period, most significantly in 2008 to 2009. Rates of immediate breast reconstruction continued to increase, although at a slower rate, after 2011 compared with before 2011 across all subgroups. Both implant and autologous reconstructive techniques increased over time. Implant-based reconstruction increased steadily, whereas autologous reconstruction increased most significantly between 2008 and 2009.

Conclusions:
Despite an overall increase in immediate breast reconstruction, there was an overall lack of effect on post-2011 reconstructive rates attributable to the legislative changes. Reconstructive rates have increased significantly in New York State over the past decade, and these changes appear to be largely independent of the 2011 New York State Breast Reconstruction Act. There are likely nonlegislative drivers of breast reconstruction use.
Revisiting the Alar-Columellar Relationship: Classification and Correction
Authors: Rohrich Rod J. , Afrooz Paul N. 
Published: June 2019

Summary:
The alar-columellar relationship has tremendous aesthetic significance in the lower one-third of the nose. Aberrancies in the alar-columellar relationship detract from nasal aesthetics, and are classified into six types: type I, hanging columella; type II, retracted ala; type III, combination of a hanging columella and retracted ala; type IV, hanging ala; type V, retracted columella, and type VI, combination of a hanging ala and retracted columella. This article describes the methods for proper evaluation and diagnosis of aberrancies in the alar-columellar relationship, and current strategies to restore the ideal alar-columellar relationship.

CLINICAL QUESTION/LEVEL OF EVIDENCE:
Therapeutic, V.