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Dangerous triplet: Polycystic ovary syndrome, oral contraceptives and Kounis syndrome

World Journal of Cardiology 2014年第12期6卷 1285-1289页

作者： Nurdan Erol Aysu Turkmen Karaagac Nicholas G Kounis Siyami Ersek Thorax and Cardiovascular Surgery Training and Research Hospital Pediatric Cardiology Clinic 34668 Uskudar Istanbul Turkey Kartal Kosuyolu Research and Training Hospital pediatri 34846 Kartal Istanbul Turkey department of Medical Sciences Northwestern Greece Highest Institute of Education and Technology

Polycystic ovary syndrome is characterized by ovulatory dysfunction, androgen excess and polycystic ovaries and is associated with hypertension, diabetes, metabolic syndrome and cardiovascular events. Oral contraceptives constitute first-line treatment, particularly when symptomatic hyperandrogenism is present. However, these drugs are associated with cardiovascular events and hypersensitivity reactions that pose problem in differential diagnosis and therapy. We present a 14 year-old female with polycystic ovary syndrome taking oral contraceptive and suffering from recurrent coronary ischemic attacks with increased eosinophils, and troponin levels suggesting Kounis syndrome.

关键词： ovary cardiovascular androgen troponin angina suffering medication constitute cholesterol estradiol

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葡萄糖转运蛋白-1缺乏综合征:临床、遗传特点及治疗

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世界核心医学期刊文摘（神经病学分册） 2005年第5期1卷 16-17页

作者： Pascual J.M. D.C. De Vivo 郭俊 department of pediatri cs Columbia University Neurological Institute 710 West 168th Street New York NY 10032 United States Dr.

Impaired glucose transport across the blood brain barrier results in Glut 1 deficiency syndrome (Glut 1 DS, OMIM 606777), characterized by infantile se izures, developmental delay, acquired microcephaly, spasticity, ataxia, and hypo glycorrhachia. We studied 16 new Glut 1 deficiency syndrome patients focusing on clinical and laboratory features, molecular genetics, genotype phenotype co rrelation, and treatment. These patients were classified phenotypically into thr ee groups. The mean cerebrospinal fluid glucose concentration was 33.1 ± 4.9mg/ dl equal to 37% of the simultaneous blood glucose concentration. The mean cere brospinal fluid lactate concentration was 1.0 ± 0.3mM, which was less than the normal mean value of 1.63mM. The mean Vmax for the 3 O methyl D glucose uptake into erythrocytes was 996 fmol/106 red blood cells per second, significan tly less (54 ± 11% ; t test, p 0.05). We identified 16 rearrangements, includ ing seven missense, one nonsense, one insertion, and seven deletion mutations. F ourteen were novel mutations. There were no obvious correlations between phenoty pe, genotype, or biochemical measures. The ketogenic diet produced good seizure control.

关键词：葡萄糖转运蛋白遗传特点血脑屏障血糖浓度痫性发作小头畸形生酮饮食脑脊液糖共济失调乳酸盐

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胰母细胞瘤合并不完全性Beckwith-Wiedemann综合征:病例报道和文献回顾

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世界核心医学期刊文摘（儿科学分册） 2006年第1期2卷 44-45页

作者： Muguerza R. Rodriguez A. Formigo E. 郭战宏 department of pediatri c Surgery Complejo Hospitalario Xeral-Ces Pizarro 22 36204 Vigo Spain

A case of pancreatoblastoma (PB) in a 2 month-oldmale infant with incomplete Beckwith-Wiedemann syndrome is presented. Clinical exa mination disclosed left hemihypertrophy, macroglossia, bilateral exophthalmos, a nd enlargement of the left testis. Imaging with ultrasound and computed tomograp hy scan showed a well-defined, heterogeneous, and grossly cystic mass arising f rom the head of the pancreas. Serum alpha-fetoprotein (AFP) level was elevated. The tumor was completely resected, and the histological analysis showed PB. The patient’s recovery was uneventful, and AFP returned to normal values after sur gery. The child has been disease-free for 5 years, and his serum AFP remained w ithin normal values. Six other examples of this association, PB, and Beckwith-W iedemann syndrome are recorded in the literature. The risk of developing tumor i n this syndrome (complete and incomplete form) increases when hemihypertrophy is present, and the need for routine screening examination is warranted. Beckwith -Wiedemann syndrome was suggested to be a favorable biological marker for survi val in children who have intraabdominal tumors.

关键词：胰母细胞瘤文献回顾不完全性不完全型腔内肿瘤血清甲胎蛋白偏身肥大眼球突出左侧睾丸生物

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新生儿肾静脉血栓形成的临床转归及血栓形成前疾病的发病率

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世界核心医学期刊文摘（儿科学分册） 2006年第1期2卷 23-23页

作者： Marks S.D. Massicotte M.P. Steele B.T. V.S. Shah 朱新菊 department of Pa ediatrics Mount Sinai Hospital 600 University Ave Toronto Ont. M5G 1X5 Canada Dr.

Objective: To determine clinical outcomes and the prevalence of prothrombotic conditions in patients who had neonatal renal venous thrombosis (RVT). Study des ign: A retrospective cohort of neonates with RVT who were admitted to 4 pediatri c centers from 1980 to 2001 was identified. Information on clinical presentation , laboratory and radiological investigation, and treatment were abstracted. Surv ivors were evaluated for renal status and prothrombotic conditions. Results: For tythree patients with neonatal RVT were identified. RVT was unilateral in 24 pat ients (56%) and associated with thrombi at other sites in 32 patienets (74%). Clinical presentations included renal failure in 24 patients (56%), thrombocyto penia, anemia, or both in 22 patients (51%), and renal mass in 21 patients (49 %). Neonatal interventions included anti-coagulants in 28 patients (65%), ant ihypertensive medications in 9 patients (21%), peritoneal dialysis in 2 patient s (5%), and nephrectomy in 2 patients (5%). The median age at follow-up was 3 .7 years (range, 0.5-20.2 years). Thirteen patients (34%) had hypertension, an d 11 patients (29%) had renal failure. End-stage renal disease developed in 3 patients, and they underwent live-related renal transplants. Twelve of the 28 p atients (43%) examined had prothrombotic abnormalities. Conclusion: Neonatal RV T is associated with significant renal morbidity and a high prevalence of prothr ombotic abnormalities.

关键词：肾静脉血栓形成临床转归肾功能衰竭回顾性诊断存活者终末期肾病儿童中心高发率抗高血压药物

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