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INFORM is a prospective, multinational registry gathering clinical and molecular data of relapsed, progressive, or high-risk pediatric patients with cancer. This report describes long-term follow-up of 519 patients in whom molecular alterations were evaluated according to a predefined seven-scale target prioritization algorithm. Mean turnaround time from sample receipt to report was 25.4 days. The highest target priority level was observed in 42 patients (8.1%). Of these, 20 patients received matched targeted treatment with a median progression-free survival of 204 days [95% confidence interval (CI), 99–not applicable], compared with 117 days (95% CI, 106–143; P = 0.011) in all other patients. The respective molecular targets were shown to be predictive for matched treatment response and not prognostic surrogates for improved outcome. Hereditary cancer predisposition syndromes were identified in 7.5% of patients, half of which were newly identified through the study. Integrated molecular analyses resulted in a change or refinement of diagnoses in 8.2% of cases.Significance:The pediatric precision oncology INFORM registry prospectively tested a target prioritization algorithm in a real-world, multinational setting and identified subgroups of patients benefiting from matched targeted treatment with improved progression-free survival, refinement of diagnosis, and identification of hereditary cancer predisposition syndromes.See related commentary by Eggermont et al., p. 2677.This article is highlighted in the In This Issue feature, p. 2659

Supplementary Table from The Pediatric Precision Oncology INFORM Registry: Clinical Outcome and Benefit for Patients with Very High-Evidence Targets

Supplementary Figure from The Pediatric Precision Oncology INFORM Registry: Clinical Outcome and Benefit for Patients with Very High-Evidence Targets

Beyond MYC rearrangement, Burkitt lymphoma (BL) often presents with additional aberrations. Biopsy touch imprints from 72 children with BL were tested with interphase fluorescence in-situ hybridization (i-FISH) for MYC, BCL2, BCL6, IGH, IGK and IGL rearrangements and copy-number aberrations involving 1q21/1p32, 7cen/7q31, 9cen/9p21, 13q14/13q34 and 17cen/17p13. Diploid status deviations were investigated with chromosome enumeration probes. MYC rearrangement was demonstrated in all cases. Additional aberrations included +1q (21/72:29.2%), +7q (14/72:19.4%), 13q- (14/72:19.4%), 9p-(6/72:8.3%) and hyperdiploidy (6/72:8.3%). Advanced clinical stage IV, +7q and 9p- were associated with shorter overall survival, with stage IV and +7q retaining prognostic significance on multivariate analysis. No relapse or death was reported among the hyperdiploid cases. This i-FISH investigation provides information on the genetic profile of BL and may prove valuable for patients with no karyotype analysis. Demonstration of hyperdiploidy could evolve research on clonal evolution pathways and probably identify a subgroup of children with favorable prognosis.

PURPOSE: The prognosis for SHH-medulloblastoma (MB) patients with Li-Fraumeni syndrome (LFS) is poor. Due to lack of comprehensive data for these patients, it is challenging to establish effective therapeutic recommendations. We here describe the largest retrospective cohort of pediatric LFS SHH-MB patients to date and their clinical outcomes. PATIENTS AND METHODS: N=31 patients with LFS SHH-MB were included in this retrospective multicenter study. TP53 variant type, clinical parameters including treatment modalities, event-free survival (EFS) and overall survival (OS), as well as recurrence patterns and incidence of secondary neoplasms, were evaluated. RESULTS: All LFS-MBs were classified as SHH subgroup, in 30/31 cases based on DNA methylation analysis. The majority of constitutional TP53 variants (72%) represented missense variants, and all except two truncating variants were located within the DNA-binding domain. 54% were large cell anaplastic, 69% gross totally resected and 81% had M0 status. The 2-(y)ear and 5-(y)ear EFS were 26% and 8,8%, respectively, and 2y- and 5y-OS 40% and 12%. Patients who received post-operative radiotherapy (RT) followed by chemotherapy (CT) showed significantly better outcomes (2y-EFS:43%) compared to patients who received CT before RT (30%) (p

Objectives Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare, potentially fatal, pediatric syndrome. Case presentations We describe three cases of ROHHAD-syndrome in Greece. The main and earliest symptom was the excessive and rapid weight gain at 5, 2, and 3 years of age. Years after the onset of obesity, the patients developed hypothalamic dysfunction with various endocrinological abnormalities (at 9, 8, and 6.8 years, respectively), autonomic dysregulation and finally, alveolar hypoventilation (at 14.6, 8, and 7.8 years, respectively), leading to the diagnosis of ROHHAD-syndrome. Conclusions The rarity of the syndrome, the variable symptoms’ presentation, and the lack of specific diagnostic tests could explain why no previous cases have been reported from our country. The rapid onset of obesity was underestimated, and the patients were misdiagnosed with other more common obesity syndromes. Therefore, we propose a questionnaire to help physicians identify patients with ROHHAD-syndrome.

BACKGROUND/OBJECTIVES: Aggressive clinical and biological behavior, high morbidity and mortality are the main characteristics of pediatric high-grade-gliomas (HGG). Our aim was to study patients (pts) with ΗGG or diffuse-intrinsic-pontine-glioma (DIPG), diagnosed in the largest pediatric neurooncology Center in Greece. DESIGN-METHODS: We performed a retrospective-review of newly-diagnosed pts with HGG or DIPG during 2014-2021. Gender, age, location, resectability, type of surgery, histological and molecular characteristics, management and outcome were analyzed. RESULTS: During the study-period, 38pts (18females), median age:9.35y(range:3days-16.9y), were diagnosed in our center. The most common tumor-location were pons (17/38 pts) and parietal lobe (11/38 pts). DIPG based on imaging-studies was diagnosed in 16pts. Surgical approach was performed in 32pts (VP-shunt insertion:8, biopsy:12, partial resection:6, subtotal: 6). In 23pts(5 brainstem-tumors) a histological-diagnosis was feasible. Astrocytoma grIV was found in 60.8% and grΙΙΙ in 26.1%(14 and 6 respectively). Of notice, 3 additional pts with histological findings of low-grade(2grII and 1gr1), were upgraded in grIV after molecular-studies and DNA-methylation analysis. Furthermore, 17.3% of the pts (4/23, 3 located in the midline) carried a Η3Κ27Μ-mutation (diffuse midline glioma, DMG), 17.3% a Η3F3A-mutation and 8.6% showed ΕGFR-overexpression. All patients>3years of age were treated upfront according to HIT-HGG2013 with radiotherapy-temozolomide (29/32pts). In 5DIPG pts, reirradiation after disease-progression resulted in temporary symptomatic improvement. HGG-pts upon progression were treated with bevacizumab-irinotecan. Of the 38pts, 6pts elected to receive treatment in other countries. Overall-survival was 75.1%,15.1% and 3.7% at 1,2 and 3 years post-diagnosis respectively. Patients with DIPG/ DMG and non-midline HGG had a median overall-survival of 1.10 years and1.34 years, respectively. CONCLUSIONS: The experience of our unit concurs with worldwide published series and shows that pediatric HGG and DIPG have a dismal prognosis. Re-irradiation may offer short survival prolongation. ASKNOWLEDGEMENTS: Authors asknowledge the contribution of KiTZ-Heidelberg in molecular diagnostics through collaboration with ACCC.

Large-scale molecular profiling studies in recent years have shown that central nervous system (CNS) tumors display a much greater heterogeneity in terms of molecularly distinct entities, cellular origins and genetic drivers than anticipated from histological assessment. DNA methylation profiling has emerged as a useful tool for robust tumor classification, providing new insights into these heterogeneous molecular classes. This is particularly true for rare CNS tumors with a broad morphological spectrum, which are not possible to assign as separate entities based on histological similarity alone. Here, we describe a molecularly distinct subset of predominantly pediatric CNS neoplasms (n = 60) that harbor PATZ1 fusions. The original histological diagnoses of these tumors covered a wide spectrum of tumor types and malignancy grades. While the single most common diagnosis was glioblastoma (GBM), clinical data of the PATZ1-fused tumors showed a better prognosis than typical GBM, despite frequent relapses. RNA sequencing revealed recurrent MN1:PATZ1 or EWSR1:PATZ1 fusions related to (often extensive) copy number variations on chromosome 22, where PATZ1 and the two fusion partners are located. These fusions have individually been reported in a number of glial/glioneuronal tumors, as well as extracranial sarcomas. We show here that they are more common than previously acknowledged, and together define a biologically distinct CNS tumor type with high expression of neural development markers such as PAX2, GATA2 and IGF2. Drug screening performed on the MN1:PATZ1 fusion-bearing KS-1 brain tumor cell line revealed preliminary candidates for further study. In summary, PATZ1 fusions define a molecular class of histologically polyphenotypic neuroepithelial tumors, which show an intermediate prognosis under current treatment regimens.

An intraparenchymal pericatheter cyst is a rare complication of ventriculoperitoneal shunt, which is not well described yet. Due to its rarity, lack of characteristic symptoms and radiological features that often mimic brain tumors or abscesses, especially in head computed tomography without contrast can be easily misdiagnosed. We report the case of a 9-year-old girl who was admitted to a peripheral hospital due to severe headaches and vomiting. The child had a history of craniotomy and ventriculoperitoneal shunt for posterior fossa tumor, performed in our department, 4 years earlier. The patient underwent a brain magnetic resonance imaging (MRI) scan and transmitted to our hospital with the diagnosis of brain tumor. However, a closer look at the MRI established the diagnosis of intraparenchymal pericatheter cerebrospinal fluid cyst; hence, the patient underwent shunt revision and cyst drainage. We researched the literature and described 20 reported cases, discussing the pathophysiological mechanisms, the radiological features, and the optimal treatment of this interesting, yet a challenging complication.

BACKGROUND: Tumors of Central Nervous System (CNS) comprise major cause of cancer-related morbidity and mortality during childhood. Recent advances in genome and epigenome research allow for molecular classification of CNS tumors, treatment stratification and therapeutic target identification. In many countries, including Greece, this integrated diagnosis is not possible, yet, in a routine setting due to financial and infrastructural reasons. DESIGN/METHODS: We analyzed the results from the methylation profiling performed on tumor samples from newly diagnosed and selected retrospective patients followed in our unit. Analyses were performed through the PTT2.0 and MNP2.0 Studies, as part of a collaboration project between ACCC (Athens Cancer Comprehensive Center) and DKFZ (German Cancer Research Center). RESULTS: Methylation arrays from 50 patients (mean age: 8years, range: 0-17years) have been analyzed. High calibrated score (>0.9) was achieved in 38 patients (76%) and in 33 (86%) of these, the histological diagnosis matched the methylation class. The remaining 5 cases, diagnosed by the local pathologist as ganglioneuroma, primitive neuroectodermal tumor, anaplastic astrocytoma, pineoblastoma and oligodendroglioma, were classified according to the methylation profiling as dermatofibrosarcoma protuberans, medulloblastoma group 3, high-grade glioma H3.3G34mutant, high-grade neuroepithelial tumor with BCOR alteration and glioneuronal tumor, respectively. Only four cases had no match in the classifier, while seven cases received low score (0.5-0.8). In 6 out of the 7 cases with low score, the diagnosis was confirmed with the use either of the copy-number profile inferred from the methylation array or by additional testing for gene fusions and mutations. In 25 medulloblastomas, methylation profiling provided molecular classification, according to the 2021 WHO Classification. CONCLUSIONS: Our experience on the first 50 cases suggests that methylation array needs to be considered as an integral part of the diagnostic process of pediatric patients with CNS tumors and highlights the importance of international collaboration programs in pediatric neuro-oncology.

INFORM is a prospective, multinational registry gathering clinical and molecular data of relapsed, progressive, or high-risk pediatric patients with cancer. This report describes long-term follow-up of 519 patients in whom molecular alterations were evaluated according to a predefined seven-scale target prioritization algorithm. Mean turnaround time from sample receipt to report was 25.4 days. The highest target priority level was observed in 42 patients (8.1%). Of these, 20 patients received matched targeted treatment with a median progression-free survival of 204 days [95% confidence interval (CI), 99–not applicable], compared with 117 days (95% CI, 106–143; P = 0.011) in all other patients. The respective molecular targets were shown to be predictive for matched treatment response and not prognostic surrogates for improved outcome. Hereditary cancer predisposition syndromes were identified in 7.5% of patients, half of which were newly identified through the study. Integrated molecular analyses resulted in a change or refinement of diagnoses in 8.2% of cases. Significance: The pediatric precision oncology INFORM registry prospectively tested a target prioritization algorithm in a real-world, multinational setting and identified subgroups of patients benefiting from matched targeted treatment with improved progression-free survival, refinement of diagnosis, and identification of hereditary cancer predisposition syndromes. See related commentary by Eggermont et al., p. 2677 . This article is highlighted in the In This Issue feature, p. 2659

Acute promyelocytic leukemia (APL), comprises 5–7% of acute myeloid leukemias (AML), and is typically characterized by the reciprocal translocation t(15;17) (q22;q21), resulting in the chimeric PML...

Factitious hypoglycaemia is a form of factitious disorder imposed on self with high morbidity and mortality. It is therefore important to be aware of the key demographic and contextual risk factors for factitious hypoglycaemia, as well the investigations and management options available for suspected cases.In this article we describe a case report and literature review of factitious hypoglycaemia. The search was conducted using the PubMed database and identified 23 case reports of 31 patients aged 18 or over with insulin-induced factitious hypoglycaemia.The average age of these patients was 33.7 (±13.5) years, the female: male ratio was 4.3:1, 38% had medical occupations or past medical training, 53% had diabetes mellitus, and 41% had a positive psychiatric history. Misdiagnoses were common and often resulted in inappropriate treatment. Very few cases discussed psychiatric management.Factitious hypoglycaemia is more commonly reported in middle-aged females, in a medical profession, with a past medical history of diabetes mellitus and psychiatric illness. However, it may affect a variety of patients and the absence of these features should not discourage a diagnosis. C-peptide levels and insulin assays can help identify factitious hypoglycaemia over other causes of hypoglycaemia, and management should include a greater focus on psychiatric treatment.

Background: Burkitt lymphoma (BL) is the most common lymphoma in childhood. Apart from MYC rearrangement, considered the hallmark of the disease, BL often presents with additional chromosome aberrations, the biological and clinical significance of which is not fully understood. Materials and methods: The study included 72 children (55 boys, 17 girls), aged 2-16 years (median 9), with BL diagnosed on the basis of histopathology and a demonstrable MYC rearrangement. Touch imprints from the diagnostic biopsy samples were investigated with i-FISH for MYC, BCL2, BCL6, IGH, IGK and IGL rearrangements genes and copy number aberrations involving 1q21/1p32, 7cen/7q31, 9cen/9p21, 13q14/13q34 and 17cen/17p13. Deviations from the diploid status were further investigated for aneusomies of the carrier chromosome with the use of appropriate chromosome enumeration probes. Results: MYC gene was demonstrated in all cases with MYC/IGH fusion in 83.3% (60/72). 47 cases (65.3%) were found with least one additional aberration, most commonly with 1q gain (29.2%), 7q gain (19.4%), 13q deletion (19.4%), hemizygous 9p loss (8.3%) and hyperdiploidy (8.3%). Advanced clinical stage (IV), 7q gain (but not trisomy 7) and -9/9p- were significantly associated with shorter overall survival. There was no instance of relapse or death among the hyperdiploid cases. Conclusions: This extensive FISH investigation on imprints of affected tissue provides clinically meaningful information on the genetic profile of BL and may prove valuable in the management of patients with no karyotype available. In particular, the demonstration of hyperdiploidy through the use of chromosome enumeration probes could offer the means for the delineation of clonal evolution pathways and the recognition of a subgroup of children with excellent prognosis who could be cured with low-intensity chemotherapy regimens. Disclosures Kattamis: VIFOR: Consultancy; CRISPR/Vertex: Consultancy, Honoraria; Agios Pharmaceuticals: Consultancy; IONIS: Consultancy; BMS/Celgene: Consultancy, Honoraria, Research Funding; Chiesi: Honoraria; Novartis: Consultancy, Honoraria, Research Funding; Amgen: Consultancy.

Background:Acute Leukemia of Ambiguous Lineage (ALAL) is a very rare type of leukemia, comprising 2%-5% of Acute Leukemias (AL). There is a lack of a uniform definition, with two different classification systems used (EGIL and WHO 2008/2016), making the optimal chemotherapy approach undetermined. Patients and Methods:The medical records of newly diagnosed ALAL patients (BAL based on the EGIL criteria or ALAL based on the 2008/2016 WHO criteria), who were admitted to our hospital from January 2012 to August 2020, were retrospectively reviewed. Patients characteristics including age, sex, blood count, blasts in bone marrow and peripheral blood, morphology, immunophenotyping, and cytogenetic/molecular studies were obtained. Treatment methods and outcome data including induction chemotherapy, complete remission (CR), relapse, use of Hematopoietic Stem Cell Transplantation (HSCT) in first CR (CR1), and death were reviewed. Results:Among a total of 168 newly diagnosed patients with AL, 7 (4.17%) patients (5 male & 2 female), fulfilled prerequisites of ALAL/MPAL. The median age at diagnosis was 5 years (range 1-14 years). Distinct dimorphic lymphoid and myeloid (monocytic) blast populations were present in one case with bilineal leukemia, as well as in two cases of biphenotypic leukemia. The remaining cases had morphologic and cytochemical features of Acute Myeloid Leukemia (AML), French-American-British (FAB): M1, M5 subtypes in two cases and Acute Lymphoblastic Leukemia (ALL) FAB L1-L2 subtype in one case. One case presented with early switch of lineage from ALL at diagnosis to AML M5 at the end of induction treatment. The AML directed regimen was associated with better complete remission rate at the end of induction treatment (CR 100%) compared to the ALL directed regimen (CR 0%). It is of note that the two patients that failed to achieve CR with ALL directed chemotherapy did respond to the AML induction treatment. Six patients underwent HSCT in CR1. One patient relapsed and underwent HSCT in CR2, but succumbed due to treatment related mortality during the transplantation period. At a median follow-up of 3.7 years (range 1-8 years) the 5-year overall survival (OS) and the event free survival (EFS) were 80% and 60%, respectively. Conclusions:Considering that ALAL is a very rare leukemia, the optimal treatment approach remains a dilemma for many clinicians. Although patient numbers are small and follow-up periods are short, the use of AML treatment protocols for ALAL appears to be promising and efforts need to be made on an international collaborative scale. Disclosures Kattamis: Novartis:Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding, Speakers Bureau;Vertex:Membership on an entity's Board of Directors or advisory committees;Genesis Pharma SA:Membership on an entity's Board of Directors or advisory committees;Apopharma/Chiesi:Honoraria, Speakers Bureau;Celgene/BMS:Honoraria, Membership on an entity's Board of Directors or advisory committees, Speakers Bureau;Ionis:Membership on an entity's Board of Directors or advisory committees;Agios:Consultancy;Vifor:Membership on an entity's Board of Directors or advisory committees.

BACKGROUND/OBJECTIVES: Low-grade-gliomas(LGGs) encompass a heterogeneous set of tumors of different histologies. They are the most common type of pediatric brain tumors accounting almost 30-50% of them. This is the first attempt to describe characteristics of Greek-LGG-patients diagnosed in the largest Pediatric Brain Tumors National Center. DESIGN-METHODS: We performed a retrospective review of newly-diagnosed LGG-patients during 2015-2017. Gender, age, symptoms, location, leptomeningeal infiltration, histological type, BRAF-status, NF-status, management and outcome were analysed. RESULTS: During the study period, 42 LGG-patients(22males) were diagnosed. Median age was 6.3years(range:40days-15.8years). Nearly 80% of the patients had symptoms of raised intracranial-pressure (headache/vomiting). The most common locations were: posterior-fossa(38.0%) followed by optic-pathway(26.2%). Surgical intervention was possible in 30 patients(26 subtotal/total excision, 2 partial excision, 2 biopsy). Leptomeningeal infiltration at diagnosis was detected in 2 patients. Histological type was mostly astrocytoma (23pts, 54.8%), especially pilocytic type (69.5% of astrocytomas). NF1 was diagnosed in 23.8% of the patients. In 16non-NF1 patients RT-PCR was performed for KIAA1549/BRAF-fusion and was positive in 5 patients and BRAFV600Emutation was detected in 3 patients. Treatment according to LGG2004-protocol was administered in 13 patients, of which 5 needed treatment-modification (3 due to carboplatin allergic reaction and 2 due to progressive disease) Radiotherapy was administered in 2 patients. One patient had a malignant transformation to glioblastoma multiforme, 16 months after initial diagnosis and died. At the end of treatment, visual and mobility problems were noted in two and one patients respectively. CONCLUSIONS: The most common histologic type was pilocytic astrocytoma. Overall survival was 97,6%. Our findings agree with those of internationally published studies.

The importance of handovers has been recognised and proven in clinical practice. In liaison psychiatry, this is particularly important due to the high turnover of patients seen, the shift work pattern and the number of member staff engaging in this process. An Audit on the Quality of Handovers was carried out within a Psychiatric Liaison team of a General hospital in UK with an intention to review and improve this.Handovers were evaluated against the gold standard of the SBAR tool (Situation/Background/Assessment/Recommendations) over a period of 4 weeks. Handovers were assessed by 2 members of staff (a Consultanta Specialty doctor). Data was analysed using Microsoft Excel.Results showed that the team's handover practice is mostly "Good" but there was also an amount of "Poor" under "SituationBackground", mostly presented by mid-grade doctorstrainees. Nurses scored higher than medics on overall rating, nearly 50%.This could be attributed to the fact that handovers form an essentialintegral part of Nurse's trainingculture. Also mid-grade (staff grade) doctors have had a significant amount of "excellent" scoring that other groups didn't have, mostly on the AssessmentRecommendations domains, which can be attributed to the fact that importance is stressed more on the assessmenttreatment module by the doctors.The multi-disciplinary composition of the liaison psychiatry team has a positive impact on the patient care. This audit has revealed overall good communication amongst the members of the team, nevertheless one that needs some improvement, particularly amongst the doctors. Doctors tend to focus on the remedial (assessmenttreatment) module rather than the holistic approach. SBAR remains an effectivehandy tool to improve the handover quality. A re-audit will be carried out in 6 months time to assess the improvements observed following the implementation of this new tool.

CNS tumors are the second most common neoplasms in children and primary cause of childhood cancer morbidity. With the increase of 5-year survival rate, the diagnosis of long-term consequences is necessary. Recent studies suggest that childhood CNS tumors are associated with IQ decline and deficits in specific cognitive functions. Factors such as localization, age at diagnosis and therapeutic modalities influence the range and severity of the neuropsychological deficits. OBJECTIVE: This work presents the results of the first systematic evaluation of neuropsychological performance of Greek children with CNS tumors. METHODS: 72 children underwent neuropsychological testing between September 2015 and December 2017. Forty five children (29 boys, 64%) with mean age of 10.5 (range: 5.3-16.1) years were included in the study. Eighteen (40%) patients had low grade tumors. All patients underwent a comprehensive neuropsychological assessment, covering all domains of cognitive functioning. Impairment was defined as a performance of one standard deviation below the normative mean. RESULTS: Poor neurocognitive performance was found regarding attention (-2sd), speed of processing (-1.5sd), verbal memory (-2sd), learning (-1.5sd) and executive functions (-2sd). Despite the abovementioned deficits, intellectual efficiency was relatively preserved and fell within low average levels (>16%ile). CONCLUSIONS: Our results are in line with previous reports suggesting that children who have been treated for CNS tumors present with a wide range of long-term effects on cognitive functioning. Longer follow-up and expansion of the sample may give for further insights on the factors associated with poor neurocognitive outcome and allow appropriate intervention for optimal outcome.

Introduction: Aplastic anemia (AA) is a rare syndrome of bone marrow failure characterized by peripheral blood pancytopenia and marrow aplasia. We report the clinical course and therapeutic approach of children with AA, who were treated in our Department within the last 4 years. Methods: Fifteen children (9 males/ 6 females) of mean age 7.64 years (range: 2 to 15 years) were diagnosed in our unit with AA since 2012. Diagnosis was established by bone marrow aspirate and biopsy and a normal bone marrow karyotype. Evaluation for underlying bone marrow failure syndromes, including Fanconi anemia, Shwachman-Diamond syndrome and paroxysmal nocturnal hemoglobinuria was performed in all cases. Results: Four children were identified with Fanconi anemia, both by cytogenetic and molecular analysis. Eleven children were diagnosed with acquired aplastic anemia (AAA); one probably after treatment with NSAIDs, one patient presented after influenza virus infection, while two patients presented also with transaminasemia of unknown etiology. First line therapy was hematopoietic stem-cell transplantation (HSCT), should an appropriate graft be available. In this respect, three patients (N: 3/4 ) with Fanconi anemia and one patient (N:1/11) with AAA were transplanted from a fully-matched sibling donor. One patient with AAA received autologous cord blood. The remaining ten patients (N: 10/15) received standard immunosuppressive therapy (antithymocyte globulin, cyclosporine-A and methylprednisolone). Eight of the 9 evaluable patients responded to therapy. Six of these patients also received treatment with eltrombopag, an oral thrombopoietin-receptor agonist, for at least six months. Eltrombopag was provided as off-label compassionate use and after having received approval from regulatory authorities. In these 6 patients, treatment with eltrombopag was well tolerated with no additive toxicity. Five patients showed progressive improvement of hematological values during the treatment with eltrombopag. Two patients with AAA, did not respond to immunosuppressive therapy, and subsequently underwent MUD-HSCT. One succumbed due to severe autoimmune hemolytic anemia, while the second has showed good engraftment, but with short post-BMT follow up time. Of note is, that one patient with Fanconi anemia showed full hematological recovery after immunosuppressive treatment. This patient, who was found to be homozygous for a FANC-E mutation, did not have any clinical stigmata. It is speculated that the unusual response to therapy may be due to its very mild clinical phenotype. Conclusions: Survival rates in severe AA have remarkably improved in the last decades due to allo-HSCT, immunosuppressive therapy and intense supportive care. This small series of children with AA underlines the option of new effective modalities. The use of autologous umbilical cord blood should be considered as an alternative first line therapy. Eltrombopag seems to improve platelet count and result in a tri-lineage response, in a manner similar to the one observed in adults with AA. Finally, the efficacy of immunosuppressive treatment in a patient with Fanconi anemia has not been previously described and warrants further evaluation. Disclosures Kattamis: Novartis: Honoraria, Research Funding; ApoPharma: Honoraria.

Background: The Airtraq(superscript ®) Optical Laryngoscope is a new type of laryngoscope that provides a direct view of the glottis without alignment of the mouth, pharynx and trachea. Data show that it has advantages over the Macintosh laryngoscope. Objective: The aim of this study was to compare the use of the Airtraq laryngoscope versus the No. 3 Macintosh blade for routine airway management in terms of intubation time, complications during and after laryngoscopy, and ease of use. Methods: In this single-center, randomized, clinical trial, 63 patients scheduled for elective operation were randomly allocated to two groups. Thirty-five patients were intubated with the Airtraq laryngoscope and 28 with the traditional Macintosh laryngoscope. All intubations were performed by experienced anesthesiologists who had a similar level of experience with the Airtraq laryngoscope. The time needed for intubation, any assistance required, complications during and after laryngoscopy and intubation, and the number of unsuccessful intubation attempts were documented and compared between the groups. Results: Intubation with the Macintosh laryngoscope was quicker (mean±standard deviation: 23.7±5.9 seconds) than with the Airtraq laryngoscope (29.6±8.5 seconds). Although the difference (5.9 seconds) was statistically significant (p＜0.05), it was not clinically significant. The anesthesiologists who used the Airtraq laryngoscope less frequently required assistance (p＜0.05) to place the endotracheal tube. No differences were found regarding complications during and after laryngoscopy and intubation. There were no differences in any of the outcomes in patients with Mallampati class＞2. Conclusion: The Airtraq laryngoscope is easier to use but it does not have any significant advantages compared with the Macintosh laryngoscope for routine airway management. More studies are needed to evaluate its use in patients with a difficult airway, and in emergency procedures.

The project aimed to improve productivity of psychiatric out patient clinic using quality improvement techniques through "Listening Into Action", a national programme designed to engage and support front-line clinicians to make improvements to patient care. We identified reasons as to why our patients missed appointments and then introduced a system to reduce "did not attend" (DNA) rates. Non-attendance at appointments results in a waste of resources and increases waiting times. It has been reported that DNA rates in mental health are higher compared to other settings. Therefore, reducing DNA rates are a priority for mental health care providers. We collected DNA rates over a period of months over May 2013 to September 2013. We conducted a patient survey to inquire why the patients missed their appointments. The aim of the project and results from the survey were presented and discussed at the multi-disciplinary team meeting to generate ideas for improvement and engage the team with the project. As the most frequent response from the survey was 'forgetting the appointment', we decided to introduce text messaging as an intervention to remind patients of their appointments. We also ensured that staff updated the mobile phone records for the patients at each appointment. We monitored the DNA rates after introducing this change on a monthly basis. Following our intervention, there was an overall reduction in DNA rates for all disciplines from 11.4% to 10.62% with the greatest change for medical DNA's from 17.7% to 11.8 %. Results from a patient survey showed that the reasons for non-attendance are multi-factorial and require a complex approach. Our intervention was a simple one but still it demonstrated some effectiveness. Reducing DNA rates requires interventions to be regularly monitored so that their effect is sustained over a period of time.