2nd World Congress on Rare Diseases and Orphan Drugs June 29-30, 2017 London, UK

Isabelle Windheuser is a 5th year medical student at the University of Bonn in Germany. She is currently working in the Center for Rare Diseases (ZSEB) at the University Hospital in Bonn, where the medical students act as an interface between the patients and the ZSEB physicians. The student is expected to generate an epicrisis and to consider diverse differential diagnosis in order to write a final report with recommendations to the patient

A rare disease is defined as a disease that affects less than 1 in 2,000 people in Europe. In Germany about four million individuals have a rare disease, which therefore represents a major public health issue, especially for the patients without a diagnosis. The demand for experts in rare diseases is correspondingly large, with insufficient points of contact for affected patients. To address this unmet need and improve the management of patients without diagnosis, the Center for Rare Diseases (ZSEB) at the University Hospital of Bonn founded a subunit, the “Interdisciplinary Competence Unit for Patients without Diagnosis” (InterPoD) in 2012. Since 2014 we have investigated the medical history of 242 patients with no established diagnosis and collected detailed information about their somatic, psychological, and social aspects of health by using a standardized questionnaire. The aim of the study is to characterize the patients’ collective data and retrospectively evaluating their data to create a patient profile. We determined the number and duration of medical assessments and investigations of patients without diagnosis before our evaluation through the InterPoD. We have also focused on determining the common accompanying symptoms or illnesses and have further investigated the most affected organ systems. Furthermore, we discuss how an unconfirmed diagnosis of a disease affects the patients’ social wellbeing and daily life with regard to symptoms of Depressive Disorders and anxiety syndromes.

Dr Godwin Oligbu is a competent and experienced paediatrician with an extensive clinical background in general paediatrics. He is very dedicated to a career within paediatric with an interest in paediatric infectious diseases and child public health. Over the last year has gained excellent experience in management of complex paediatric cases in St George’s hospital London and Queen Elizabeth hospital, London. He is involved in a number of research projects and currently working on an Enhanced National Surveillance of Pneumococcal Meningitis in England and Wales.

Background Sclerosing angiomatoid nodular transformation (SANT) is a rare and benign primary vascular lesion of the spleen with unknown aetiology and pathogenesis its diagnosis is often incidental and is characterised by numerous angiomatoid nodules, in fibrous tissue, within the red pulp of the spleen. The neoplasm has shown a predilection for adult females with cases in the paediatric population being exceptionally rare. Case summary We present an asymptomatic 14-year-old boy with incidental examination findings of scanty bruising and massive splenomegaly. Blood tests revealed pancytopenia with normal coagulation studies, raised C-reactive protein however normal erythrocyte sedimentation rate. Abdominal CT and ultrasound scans showed increasing splenomegaly (the largest size being 27cm) with one discrete focal lesion, small perihilar splenic lymph nodes and an enlarged splenic vein (Figure 1). The patient underwent splenectomy for diagnostic and therapeutic purposes with good long-term outcome and normalisation of the full blood count. Subsequent histological analysis revealed a prominent, nodular, 15mm mass with slit-like or irregular shaped vascular spaces that was typical of SANT. Immunohistochemistry was positive for CD8, CD31 and CD34, which was in keeping with results found in previous cases. We also found D240 to be positive. The boy was also diagnosed with congenital retinoschisis and Scheuermann's disease of the spine. Conclusions & Significance We identify common features, in the presentation, diagnosis and management of this rare condition in paediatrics, as well as documenting our own unique findings including normal erythrocyte sedimentation rate and D240 immunotyping. Although uncommon, SANT should be included in the differential diagnosis of children presenting with splenomegaly and a well circumscribed, hypovascular lesion on CT imaging. Long term follow up of this cohort of adult and paediatric patients is required to better understand the epidemiology of this condition

Larissa Wester is a 5th year medical student at the University of Bonn in Germany. She is currently working in the Center for Rare Diseases (ZSEB) at the University Hospital in Bonn, where the medical students act as an interface between the patients and the ZSEB physicians. The student is expected to generate an epicrisis and to consider diverse differential diagnosis in order to write a final report with recommendations to the patient.

At present, around 6000-8000 rare diseases are listed within standard diagnostic classification systems. In terms of diagnostics and therapy, rare diseases pose particular challenges. Patients without diagnosis are typically characterized by a long history of suffering, and of multiple clinical assessments and investigations. To improve the management of these patients the Center for Rare Diseases (ZSEB) at the University Hospital of Bonn, Germany established a new subunit, the Interdisciplinary Competence Unit for Patients without Diagnosis (InterPoD) in 2012. Following the InterPoD algorithm, specialists from diverse medical fields, the InterPoD physician, and students meet to discuss cases and assign a diagnosis. The patients’ cases are assed in an interdisciplinary manner, with a full review of all diagnoses assigned to date. Particular cases can be investigated in our out-patient clinic and missing information are collected in a detailed anamnesis. At the conclusion of this process, a final report is written for the patient. This may include recommendations such as feedback with proposed diagnoses or a referral to a specific center.

Mervat Radwan is a Assistant Prof. of Animal Medicine ( Infectious diseases )From: 2006 to Current Diagnosis and treatment of clinical cases admitted to Vet teaching hospital.Teaching Lab for diagnosis of animals diseases ts in veterinary hospital. Practical training of diagnosis and treatmentof animals to undergraduates (4th and 5th grade B.V.Sc. Course) in veterinary hospital (internal medicine and infectious diseases.

The present study was conducted to evaluate the effect of Giardia on the biochemical serum constituents of experimentally infected lambs, in addition to studying the observed alterations accompanying Giardia infection in the intestinal mucosa using scanning electron microscopy. Twenty lambs were allotted into two equal groups, Group A (infected) was orally inoculated by 104 Giardia cysts and Group B (non infected) was kept as control negative. The biochemical changes were assessed in both groups on 7th. 14th, 21th and 30th days post inoculation (dpi). The study disclosed that Giardia induced a significant drop in the levels of serum electrolytes (Cl, Na, K), blood glucose, different enzymes (lipase, amylase Alkaline phosphatase. Furthermore, the levels of urea, liver enzymes (alanine aminotransferase and aspartate aminotransferase), inflammatory marker (C-reactive protein) and oxidative stress markers malondialdehyde was elevated but nitric oxide was decline from 21 day post infection till 30 day . The scanning electron microscopy of the intestinal mucosa of the infected lambs revealed a notable alteration which was fully explained. All the presented results interpret the pathophysiological effect of Giardia which adversely affects the health status of lambs.

Leonardo Cano Cevallos is an Ecuadorian medical student attending to the last year of medical school at Universidad Católica Santiago de Guayaquil, Ecuador. He is interested on research. Has experience as teaching assistant of hematology 2 years. Is part of the research team of Respira Lab Research Group.

Background: Gorham-Stout Syndrome is a rare idiopathic nonmalignant disorder characterized by recurrent, progressive osteolysis. It may affect any bone, but commonly involves mandible, shoulder and pelvic girdle, each in roughly 20% of all the cases. The disease affects one or contiguous bones. Our purpose is to highlight the relevance of an extraordinary progression time in four months of massive osteolysis of the shoulder. Case presentation: A 12-year-old-boy is admitted by complete loss of function of the right arm and showing a deformity at level of right clavicle. His history was characterized by progressive weakness and pain on right shoulder 4 months ago. . Biopsy results showed numerous congestive capillaries surrounded by fibrous tissue and blood material, also trabecular areas with irregular edges, perivascular inflammation and atrophy signs suggestive of angiomatosis confirmed the diagnosis of the disease Conclusion: The time of progression of the disease in a normal pattern is at least one or two years within the beginning of suggestive symptoms. We consider that our case is particularly important because the progression to total destruction of elements of shoulder´s patient was four months in a young patient.