The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism

The microdeletion syndrome of chromosome 2p15p16.1 (MIM: 612513) is an extremely rare contiguous gene deletion syndrome. Microdeletions of varying sizes in the 2p15-16.1 region are associated with developmental delay, intellectual disability, autism spectrum disorder, hypotonia, and craniofacial dysmorphism. Previous studies have identified two critical regions: the proximal 2p15 and distal 2p16.1 regions. BCL11A, PAPOLG, and REL genes play crucial roles in patients with 2p16.1 microdeletion. To our knowledge, only 39 patients have been reported as having 2p15p16.1 microdeletion syndrome. Here, we present another patient with 2p15p16.1 microdeletion syndrome. A nine-month-old boy was referred to our clinic for the psychomotor delay, facial dysmorphism, and congenital hypothyroidism. During his follow-up visits, he was diagnosed with global developmental delay, intellectual disability, abnormal behavior, hypotonia, microcephaly, and abnormal electroencephalography. Using a chromosomal microarray for genetic analysis, a novel, de novo, 622 kb microdeletion of 2p16.1 was identified as one of the critical regions of the 2p15p16.1 microdeletion syndrome. This is the first case of its kind in Korea. We have discussed our case and literature reviews to clarify the relationship between the genes involved and clinical phenotypes in 2p15p16.1 microdeletion syndrome.

Effect of Hemoperfusion on Treatment for Paraquat Poisoning / 대한내과학회지

Paraquat is a very potent herbicide which causes fatal toxicity when ingested, and there is no specific antidote against it. So it is known that most of the patients who ingested it die of pulmonary fibrosis. We used hemoperfusion(HP) for the treatment against paraquat poisoning from July 1993 till March 1994 and analysed the data using SPSS/PC ver4.0 for chi-square and t-test for mean +/- SD. The results were as follows: 1) A total of 36 paraquat poisoning patients(22 males and 14 females, mean age 48.8 years) visited our hospital, and i8 patients out of 36 received hemoperfusion(total 90 cycles); there were statistically significant differences in ages(41.4 +/- 15.6 year vs 56.2 +/- 15.0 year, p<0.05), but there was no significant difference in the amount of paraquat ingested(59.6 +/- 72.7ml vs 78.6 +/- 83.6ml, p=NS), gastric lavages(13/18 vs 16/18, p=NS), and use of Fuller's earth(8/18 vs 4/18, p=NS) between the patients who received HP and those who did not receive HP. 2) All the patients who did not receive HP died, but 9 patients out of 18 who received HP survived(p<0.005). There was no significant difference in ages(46.8 +/- 9.8 year vs 36.0 +/- 18.8 year, p=NS), amount of paraquat ingested(87.5 +/- 94.2 ml vs 34.8 +/- 36.4 ml, p=NS), gastric lavages(7/9 vs 6/9, p=NS), use of Fuller`s earth(5/9 vs 3/9, p=NS), and interval from the ingestion of paraquat to HP(52.449.9 hr vs 38339.7 hr, p=NS) between patients who died and those who survived, but SCr levels on arrival in expired patients were higher than those in surviving patients(5.0 +/- 3.5mg/dl vs 1.4 +/- 0.6mg/dl, p<0.05). Therefore, this suggests that hemoperfusion is very effective in the treatment of paraquat poisoning, and hemoperfusion is the most important factor in the prognosis of the patients.

A Case of atypical bronchial carcinoid with multiple distant metastasis / 결핵

Branchial carcinoid tumors are uncommon, constituting approximately 3-5% of all primary lung cancers. Classification of these tumors has evolved substantially as our understanding of the cellular, biologic, and clinical aspects of these neoplasms has improved. Initially, bronchial carcinoids were thought to be benign and therefore were classified as branchial adenomas. Currently, however, they are well recognized as having the potential for both local invasion and distant metastatic involvement. Consequently, carcinoid tumors are frankly malignant. Thus bronchial adenoma is a misnomer that should no longer be used for bronchial carcinoids. Most investigators currently favor classifying carcinoid tumors as a type of neuroendocrine neoplasm because of their potential to secrete a variety of chemical substances found in both the central nervous system and the epithelial cells of numerous organs. Bronchial carcinoids are usually characterized by a slow growth pattern and a low incidence of metastasis, and histologically confirmed by the azurophil staining and the presence of the characteristic neurosecretary granule on electron microscopy. Atypical carcinoid tumor was first defined by Arrigoni et al, who proposed the following criteria for separation of atypical carcinoid from typical carcinoid tumor: 1) increased mitotic activity with 1 mitotic figure per 1-2 high power fields (or 5-10 mitoses /10 HPF), 2) nuclear pleomorphism, hyperchromatism, and an abnormal nuclear-cytoplasmic ratio, 3) areas of increased cellularity with disorganization of the architecture, and 4) tumor necrosis. In contrast, typical carcinoid tumor may have focal cytologic pleomorphism, but necrosis is absent and mitotic figures are rare. Recently we experienced a case of atypical bronchial carcinoid with multiple distant metastasis, so we report this case with a review of the literature.

A Study on Clinical Progress of the Metastatic Adenocarcinoma of Pleura / 결핵

BACKGROUND: We had undergone this study to investigate clinical progress of this disease and to decide the role of aggressive diagnostic approaches, the efficacy of treatments and prognoses. METHODS: A retrospective study was done on 113 patients who had been diagnosed to metastatic adenocarcinoma of pleura by pleural fluid cytology (106 cases) or pleural needle biopsy(22 cases), at Presbyterian Medical Center, from Jan. 1990 to Dec. 1994. RESULTS: 1) The patients were composed of 59 males(52.2%) and 54 females(47.8%), and the mean age distribution was 57.4 +/- 12.1 years. 2) The site of origin was lung cancer 46.9%(53/l 13), stomach cancer 20.4%(23/113), breast cancer 11.5%(13/113), and unknown primary site 6.2%(7/113 cases), as a whole. In male, lung cancer was 55.9%(33/59), stomach cancer was 28.8%(17/59), and in female, lung cancer was 37% (20/54), breast cancer was 24.1% (13/54) of cases. 3) The cardinal symptoms were dyspnea(69%), cough(61%), chest pain(50%), weight loss(50%), anorexia(49%), sputum(43%), malaise(30%). 4) The pleural fluid findings were exudative in 94.4%(102/108), serosanguinous or bloody in 36~53%, unilateral involvement in 74.3%(84/l 13) of cases, and lymphocyte predominance (71 +/- 27%) in differential count of WBC. 5) CEA levels in pleural fluid or plasma were over 10ng/ml in 60.6% (40/66), and ADA levels in pleural fluid were under 40U/L in 95% (57/60) of cases. 6) The patients were managed by various methods, but the efficacy of treatment was uncertain. 7) The mean survival time was 12.7 +/- 13.5 weeks. CONCLUSION: It seems to be no effective treatment methods yet and the prognosis was very poor in this disease, so the objectives of diagnostic approaches and treatment methods should be directed to early diagnosis, treatment and prevention of curable disease. And we must make our best endeavors to lengthen the survival time and improve the quality of patients' life.