7^th International Conference on Clinical and Medical Case Reports November 08-09, 2018 Sydney, Australia

Biography:

Thitinun graduated and trained in internal medicine from Chulalongkorn university of Thailand. She is a trained endocrinology from department of medical service thailand. Now she is an endocrinologist in lerdsin hospital, Bangkok, Thailand. She is a clinical doctor and also interested in basic research. She also studied about ER stress and saturated fatty acid in Tokyo, Japan (2014-2016). She is currently working on the factors of fracture and osteoporosis, Refracture prevention program. She ia a committee member of diabetes association of Thailand

Abstract:

Objective: Neuroendocrine tumor secreting vasoactive intestinal polypeptide (VIPoma) is rare endocrine tumor.

Materials and Methods: Genomic DNA was extracted from blood leukocyte of the patient using Qiagen’s Blood DNA extraction kit. Genotyping was performed using polymerase chain reaction (PCR) - direct nucleotide sequencing method.

Results: We report case of neuroendocrine tumor secretes vasoactive intestinal polypeptide (VIP) in a 42-year-old Thai female who presented with chronic watery diarrhea and hypokalemic metabolic acidosis for 1 year. The stool was watery, yellow color, non-bloody with volume of about 300 ml each time. Blood for vasoactive intestinal polypeptide level was 360 pg/mL (normal < 75). The computated tomography revealed mass at uncinate process of pancreatic head in parallel with increased tracer uptake at same are by octreotide scan. The study detected 2 variants, the c541 variant has been reported as a genetic polymorphism by Marini F 2008, the most likely disease-causing mutation was Cys409STOP (Cysteine was substituted by STOP codon). Intraoperative finding was presented a 3.5-centimeters light tan round mass at the head of pancreas. Finally, this case went on operation with pyloric preserving pancreatoduodenectomy. During post-operative period, the patient had no serious complication.

Conclusion: Multiple endocrine neoplasia type 1 (MEN1) is rare genetic disorders of multiple endocrine tumors that encoded by MEN1 gene in human. Even though majority of MEN1 are benign and produce endocrine hormones but some are aggressive and presenting with metastatic tumors such as VIPoma.

Surgical resection is gold standard treatment of neuroendocrine tumor. Further studies in parents and siblings are suggested.

Biography:

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Abstract:

Acute promyelocytic leukemia is a rare form of acute myeloid leukemia, representing 5-10% of adult cases of AML. There are an estimated 600-800 newly diagnosed cases in the US every year. It is most commonly taught in medical schools that the presenting symptoms of APML are symptoms of coagulopathy; thrombocytopenia, petechiae, bleeding from the gums. The most severe presentation of APML is of disseminated intravascular coagulation. It is critical to diagnose APML as soon as possible as a delay in diagnosis can lead to severe consequences of bleeding, DIC and mortality. The coagulopathy associated with APML is believed to be due to an activation of protease activity as well as increased fibrinolysis. However, a pro-thrombotic state is also associated with APML although this is exceedingly rare and rarely described in case reports. It is critical to diagnose APML as soon as possible as a delay in diagnosis can lead to severe consequences of bleeding, DIC and mortality. This case report will discuss an acute case of APML diagnosed after presentation with acute ischemic stroke. 

Biography:

Duraid Al-Midfai considering the cardiovascular major for various reasons. Since I he was a child, he has been fascinated by the world around himself. When he traveled to China and Middle East, the conservation efforts of these two countries interested him and he knew that he wanted to do something related to the CAD disease in Genetics filed. He is currently a member of Fuwai Central China Cardiovascular Hospital As a post doctoral research in the cardio surgery department-in patient building as well as his work also collaborated with Henan Hospital in the Research Center building, which is a Big and famous hospital in central of china for  cardiovascular disease treatment. 

A long-term goal of him, his goals is to one day manage and discover a novel genes associated with various diseases in human genome. Moreover, he is also curious to learn more about any medical field that is somehow related to genetics research.

Abstract:

The tissue factor pathway inhibitor (TFPI) gene encodes a protease inhibitor with a major role in regulation of blood coagulation.  In this project, we performed a large population-based study with 2,313 study subjects for which blood coagulation data are available, including the Fg level, the PT level, the APTT level and the TT level.  We selected a functional variant in the promoter of TFPI, rs10931292, which was found to reduce the transcription of TFPI and genotype it in the 2,313 study subjects using the TaqMan assay.  We carried out the linear regression analysis under three different genetic models, including an additive model, an autosomal dominant model or an autosomal recessive model, for the genotyping data.  Our analysis identified significant association of TFPI variant rs10931292 with increased plasma Fg levels (P=0.017 under a recessive model), but not with PT, APTT or TT (P>0.05).  To the best of our knowledge, this is the first time to show that a TFPI variant is significantly associated with plasma Fg levels.  These data identify a novel genetic variant for Fg levels and contributes importantly to the elucidation of the genetic basis and biological pathways for plasma Fg levels.   An increased plasma Fg level is a well-established risk factor for cardiovascular disease.  Therefore, we determined whether TFPI SNP rs10931292 was also associated with risk of CAD.  Using a large case control association study population with 4,479 CAD patients and 3,628 controls, we identified significant association between TFPI SNP rs10931292 and CAD under a recessive genetic model (OR = 1.23, P = 0.005).  Individuals with the GG/CC genotype had a significantly increased risk of CAD (OR = 1.23, P = 0.005).  These data identify a new genetic variant that increases risk of CAD and contributes importantly to the elucidation of the genetic basis and biological pathways for the pathogenesis of CAD.

 

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Figure 2.1  Analysis of association of TFPI SNP rs10931292 and coagulation indicators. (A) Fibrinogen levels (Fg/FIB).  Mean fibrinogen levels for different genotypes: NAA=980 subjects, 3.99 ± 0.15 g/L; NAG=790 subjects, 4.18 ± 0.14 g/L; NGG=305 subjects, 5.21 ± 0.97 g/L. (B) PPT.  Mean PPT for different genotypes: NAA=1084 subjects, 12.92 ± 0.20 s; NAG=886 subjects, 12.86 ± 0.23 s; NGG=335 subjects, 12.46 ± 0.10 s.  (C) APTT.  Mean APTT for different genotypes: NAA=1079 subjects, 36.52 ± 3.14 s; NAG=866 subjects, 33.59 ± 0.46 s; NGG=330 subjects, 32.89 ± 0.49 s.  (D) TT.  Mean TT for different genotypes: NAA=992 subjects, 16.58 ± 0.24 s; NAG=786 subjects, 16.34 ± 0.28 s; NGG=296 subjects, 17.08 ± 0.76 s.  Prec, P value after adjustment with age and gender under a recessive model.

Biography:

Jasper Pablo had his expertise in training at 2 of the best institutions in the Philippines. He is currently undergoing Fellowship training at the Philippine Heart Center in Philippines. His paper enlightens everyone that Syphilis is still a concern in developing countries.

Abstract:

INTRODUCTION: In this age of medicine, most abdominal aortic aneurysms are of atherosclerotic in origin. Cardiovascular syphilis is a tertiary form of syphilis occurring in 10% of infected patients. It can affect the heart, great vessels and medium-sized arteries. Aortic involvement can present as uncomplicated aortitis, coronary ostial stenosis, aortic regurgitation, and aortic aneurysm. If left untreated, the mortality rate at 1 year can reach 80% due to the high rate of rupture of these aneurysms.

CASE: A 65-year old male, who came in due to chest pain. CT aortogram revealed a fusiform infrarenal aneurysm. Coronary angiogram was done which revealed 3-vessel coronary artery disease. He was tested positive for syphilis and was treated with Penicillin. A dilemma sets in if CABG and open repair of the infrarenal aneurysm is possible. A Thallium scan showed no inducible ischemia, hence, CABG was postponed. An open repair via retroperitoneal approach was done. Histopathologic examination of the aneurysm was consistent with syphilitic aneurysm. He was discharged apparently well until his most recent follow-up.

CONCLUSION: Tertiary syphilis, though a rare disease in this age of antibiotics, is a re-emerging cause of aneurysm and should be considered in patients with risk factors.

Biography:

MNUMS, School of Medicine, Department of Oncology – Hematology

Abstract:

Introduction:

Mesenteric lymphangioma is defined as a cystic lesion located between the leaflets of the mesentery from the duodenum to the rectum, being most commonly found in ileum level. The etiology is unclear. The preoperative diagnosis is often difficult to investigate, because the clinical manifestations are variable mostly it has silent clinical course. Lymphangiomas are benign tumors, probably congenital, are more common in the cervical and axillary regions. They are unusual in abdominal and pancreas location. 

Its incidence is estimated at around 1:100,000 and 1:20,000 admissions in adults and in children. Despite the long recognition of this disease, its origin classification and pathology remain controversial. The highest incidence is between the third and fourth decades of life, with 75% of those diagnosed after ten years with a slight female predominance. Lymphangiomas are a major group of so-called vascular hamartomas, which result from a failure in the evolutionary development of the vascular system, including lymphatic and or arteries and veins. Diagnosis is made by biopsy of suspicious nodules, other imaging techniques such as CT, MRI, and ultrasound. The complete surgical excision is the ideal treatment for mesenteric lymphangionma. We report our experience with a rare case of mesenteric lymphangioma in a middle-aged male.

 

Case report:

A 43-years old man was admitted to our institution with left upper quadrant pain from two months.He presented with a good general condition, acyanosis and was afebrile, hydrated, normotensive BP 110/80 mmHg, HR - 96 beats/per min arrhythmic with symmetrical heart sound without murmur. SpO2 was 96%, both lungs with alveolar sounds, and there was no peripheral edema. His abdomen had painfulness to superficial and deep palpation.  Chest X-ray showed no abnormality, lung field was clear and sinuses sharp. Computed tomography of the abdomen revealed a +2-(-8) HU hypodense mass of cystic aspect measuring 6.9x4.0x13.4 cm without contrast. Histopathologic examination confirmed a mesenteric cyst/lymphangioma. The patient was discharged without intercurrences.

 

Biography:

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Abstract:

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