Scientific Program

Conference Series Ltd invites all the participants across the globe to attend 3rd Annual Congress on Rare Diseases and Orphan Drugs
(10 Plenary Forums - 1 Event)
San Antonio, Texas, USA.

Day 3 :

OMICS International Rare Diseases 2017 International Conference Keynote Speaker Praduman Jain photo
Biography:

Praduman Jain is the Founder and CEO of Vibrent Health, an organization providing consumer-centered Learning Health System (LHS) for precision medicine and digital therapeutics. This technology platform for personal and population health management enables applications in clinical research and healthcare delivery. Prior to founding Vibrent, he held various senior leadership roles at Sprint, Nextel, AOL, Time Warner and VTech and launched emerging products and services with revenues of $2+ Billion. He holds several patents and MS, BS degrees in Electrical Engineering. He is the Principle Investigator (PI) of Participant Technology Systems Center (PTSC), National Institutes of Health (NIH), Precision Medicine Initiative (AllofUs Research Program), a $75 Million grant to build a bio-informatics and data insights platform to engage 10 Million consumers across the US in their health journey. He is the Co-Chair of data privacy and security work group of NIH AllofUs Research program.

Abstract:

Statement of the Problem: Until now, most medical treatments have been designed for the “average patient.” As a result of this “one-size-fits-all” approach, treatments can be very successful for some patients but not for others. Currently, medicine is by trial and error. You try one treatment and if doesn’t work, you try another. Precision Medicine, on the other hand, is the personalization of health care by incorporating genetics, environmental factors and patient history to develop more precise therapies.

Purpose: President Obama announced launch of the Precision Medicine Initiative® (PMI) “to bring us closer to curing diseases like cancer and diabetes, and to give all of us access to the personalized information we need to keep ourselves and our families healthier.” In order to achieve this plan, the PMI Cohort Program is building a national research cohort of one million volunteers that will provide the platform for expanding knowledge of precision medicine approaches. The purpose is to Recruit, Enroll, Engage, Motivate and Sustain a Cohort that is nationally representative of inclusion, diversity and richness of America. Rapid advances in medical science, discovery of new diagnostic biomarkers and consumer adoption of latest Mobile and Cloud technologies is enabling new sources of data and insights.

Conclusion & Significance: Including consumers/ patients/ participants as “Partners” during medical research would enable therapies that are personalized and context based. We will focus on principles of usability, trust, value and service to increase engagement, retention, to achieve outcomes. This talk will discuss large initiatives such as NIH PMI (AllofUs Research program) that are emerging to harness convergence of multiple sources of data to gain insights into prevalence and progression of health and diseases. We will also discuss outcomes that are being achieved and a roadmap for research in consumer health.

Break: Networking & Refreshment Break 10:45-11:05 @ Texas D Foyer

Session Introduction

Arnab Ghosh

Armed Forces Medical College(AFMC), India

Title: A case of hoffman syndrome masquerading as pituitary tumour
Biography:

Arnab Ghosh is currently a Post-graduate student in Internal Medicine, Armed Forces Medical College, India. His areas of interests are cardiology, endocrinology, hematology and neurology.

Abstract:

Hoffman’s syndrome is a rare and atypical presentation of hypothyroidism, is characterized by pseudo-hypertrophy and stiffness of muscles, myxoedematous features. Long standing hypothyroidism can cause pituitary hyperplasia which is difficult to distinguish with pituitary adenoma even with contrast MRI. We describe a case of a 48 years old male with long standing uncontrolled primary hypothyroidism presenting as Hoffman’s syndrome with reactive pituitary hyperplasia that mimicked a pituitary macroadenoma. We report a case of 48 years-old man, an old case of hypothyroidism (onset 2005) with poor drug compliance presented with progressive proximal muscular weakness with muscle cramps and myalgia, swelling of all four limbs, dark pigmentation of several body parts involving face, increased hair fall, change in voice, increased body size and memory loss. Clinical examination revealed macroglossia, infiltrated facies, hoarse voice, increased soft tissue mass all over body specially face, limbs and trunk, dark pigmentation of face, legs, oral mucosa and nails, Pseudo-herculean appearance, hypertrophy of muscles with an athletic look. Neurological examination revealed pseudo-hypertrophy with proximal paresis of lower limb muscles and generalized hyporeflexia. Laboratorial investigation revealed increased CPK, mild elevation of serum level of creatinine, dyslipidemia, high TSH, low T3 and T4 with raised levels of anti thyroid-peroxidase antobodies. NCS was normal. DXA scan revealed increased fat composition. MRI brain revealed pituitary mass. After 20 days of thyroid hormone therapy, the patient had improvement of the muscular cramps. After 03 months of active therapy a repeat MRI was done which showed regression of size of the mass. In a case of primary hypothyroidism with a solid mass lesion of the pituitary gland, pituitary hyperplasia secondary to hypothyroidism rather than pituitary adenoma should be excluded to avoid unnecessary surgical intervention which has its own complications. 

Biography:

Abhish Mohan has his interest in hematolymphoid malignancies and has passion to improve the diagnostic capabilities of resource limited countries which will benefit a large number of people. His other areas of interest include Military Medicine with special emphasis in high altitude medicine.

Abstract:

Angioimmunoblastic T-cell lymphoma (AITL) is one of the rare sub-types of peripheral T-cell lymphoma, comprising 2-5% of all non-Hodgkin lymphomas. AITL is associated with many systemic features like fever, rash or arthritis. These systemic features may precede the appearance of other features of lymphoma. The disease may present with autoimmune phenomena, such as the presence of circulating immune complexes, cold agglutinins, hemolytic anemia and rheumatoid factor and anti-smooth muscle antibodies. In approximately half of the patients, polyclonal hypergammaglobulinemia is present. Vasculitis is not common but comprises antineutrophil cytoplasm antibodies (ANCA) negative vasculitis. A 65 year old male presented with complaints of a short febrile illness associated with weight loss, dry cough, generalized weakness, pruritus and paresthesias of bilateral lower limb. He was admitted to medical ward and after 12 hours patient developed dyspnea and blackish discoloration of digits. Clinical examination revealed scattered polyphonic wheeze over bilateral chest. A working diagnosis of secondary vasculitis was made and was started on methylprednisolone pulse in view of impending digital gangrene. He responded to the treatment with no further progression of digital ischemia. Autoimmune workup revealed pANCA strongly positive by ELISA; however ANA, DCT/ICT was negative. Chest and abdomen showed hepatosplenomegaly with hilar and pretracheal lymphadenopathy. Serum protein electrophoresis revealed monoclonal gammopathy, IgG lamda restricted. A lymph node biopsy of left axilla was done and HPE was suggestive of angioimmunoblastic T-cell lymphoma. He was started on chemotherapy CHOP and has shown response. AITL is one of the uncommon but aggressive neoplasms which have a varied clinical presentation including constitutional symptoms, lymphadenopathy, organomegaly, autoimmune phenomena especially hemolytic anemia and thrombocytopenia and polyclonal hypergammaglobulinemia. This case emphasizes the atypical presentation of a rather rare disease and the need for high index of suspicion, which will help in initiating chemotherapy well in time and to prolong median survival.

Biography:

Arnab Ghosh is currently a Post-graduate student in Internal Medicine, Armed Forces Medical College, India. His areas of interests are cardiology, endocrinology, hematology and neurology.

Abstract:

POEMS syndrome, also known as Osteosclerotic Myeloma, Takatsuki syndrome or Crow-Fukase syndrome, is a very rare paraneoplastic presentation associated with plasma cell dyscrasias. The acronym stands for polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes. We report a case of 65 years old post-menopausal lady presenting with insidious onset, gradually progressive sensory loss and paresthesia of lower limbs with significant weight loss, hypertrichosis and hyperpigmentation of skin on sun exposed areas. Examination revealed non length dependent pure sensory large fiber neuropathy with diminished reflexes and hypotonia of lower limbs hyperpigmentation of skin, hypertrichosis and hepatomegaly. Investigations showed polycythemia, demyelinating peripheral neuropathy on NCS, monoclonal gammopathy IgG lambda on SPEP and IF, low serum cortisol, raised FSH, LH and prolactin, recent onset diabetes, obstructive lung disease, hepatomegaly and sclerotic bone lesions. Skin biopsy showed increased melanin without increase in melanocytes and normal cardiac function. She was diagnosed as a case of POEMS syndrome based on Mayo clinic criteria and started on Aspirin, Lenaledomide and Prednisolone. Post-treatment, her symptoms improved remarkably. Paresthesia is a very common presentation of many diseases. It can be a part of paraneoplastic syndrome. One should not miss the diagnosis of any occult malignancy like in this case. Monoclonal gammopathies should always be ruled out in elderly. Patients with POEMS syndrome have hyperviscosity due to polycythemia and thrombocytosis which may be accompanied by volume overload state secondary to VEGF mediated capillary leak. Care should be taken for the prevention of thrombosis and congestive cardiac failure. Though rare, POEMS syndrome should be properly identified and reported as the treatment and prognosis of this entity is entirely based upon case reports available till date. More information based upon case reports will help formulate guidelines on therapy for POEMS.

Break: Lunch Break 12:20-13:20 @ Brazos