• Journal of Korean Neurosurgical Society
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• 제59권3호
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• pp.187-191
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• 2016

Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.

• 대한후두음성언어의학회지
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• 제11권2호
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• pp.161-166
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• 2000

Background and Objectives : Vocal fold hemorrhage occur by blood accumulation in Reinke's space by vocal trauma. It is mostly asymptomatic, but in some cases it may cause severe dysphonia. It is often seen in patients who use their voice professionally. However, recent changes of life style affected the phonation in general population. We studied to know what are the causes and what are the major factors to affect the vocal fold hemorrhages. Materials and Methods : 19 subjects were evaluated by using of questionaire and laryngoscopic examinations. We evaluated the factors to lead the change in voice directly, underlying causes, occupations and laryngeal findings. Results : The direct causes of the vocal fold hemorrhages were clearing throat, talking, coughing and singing. Reflux laryngitis and upper respiratory infection were the underlying diseases. Vocal fold hemorrhages were developed during the menstruation in 5 patients. Accompanying functional voice disorders were seen in 13 patients, such as, vocal fold nodule, nodule with varix, vocal polyp, Reinke's edema. Patients with reflux laryngitis had the habits of clearing throat as the direct cause of the vocal fold hemorrhages and had hyperkinetic functional voice disorders. Voice abuse was the direct cause of the vocal fold hemorrhages in patients who was in the period of the menstruation. The most common site of the hemorrhage was at the membranous portion of the vocal folds. Conclusions : Authors thought the forceful laryngeal activity was the cause of the vocal fold hemorrhages. And reflux laryngitis and menstruation was the risk factors of the vocal fold hemorrhages.

• Journal of Veterinary Science
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• 제23권1호
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• pp.6.1-6.8
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• 2022

Background: With limited information available, the association among urinary tract infections, urease-producing bacteria and the presence of magnesium ammonium phosphate (MAP) urolithiasis in canines in Thailand requires more study. Objectives: This study aimed to investigate the association between demographic characteristics of canines and the presence of MAP urolithiasis in canines, and to evaluate antimicrobial susceptibility patterns of bacteria isolated from canine uroliths. Methods: A total of 56 canines admitted for treatment with surgical removal of uroliths were recruited. Demographic characteristics and clinical chemistry data were recorded. Bacteria isolated from the removed uroliths were identified. Chemical compositions of the uroliths were analyzed by Fourier transform infrared spectrometer. Potential risk factors were determined with univariable and multivariable logistic regression analyses. Results: Of 56 canine urolithiasis, bacteria were isolated from uroliths of 38 canines (27 MAP and 11 non-MAP) but not from uroliths of 18 canines (5 MAP and 13 non-MAP). The most common bacteria found in nidus of MAP uroliths was Staphylococcus pseudintermedius (approximately 51%). An antimicrobial resistance was frequently found in Staphylococci isolates (42.86%). Multivariate logistic regression analysis showed that the predictors of MAP urolith in canine urolithiasis were being female (p = 0.044; adjusted odds ratio [OR], 10.22; 95% confidence interval [CI], 1.06-98.24) and the positive urolith culture (p = 0.012; adjusted OR, 8.60; 95% CI, 1.60-46.30). Conclusions: Our results indicate that S. pseudintermedius (a urease-producing bacterium) is the major causative bacteria of MAP uroliths. A positive urolith culture and being female are risk factors of MAP urolithiasis in canines.

• Journal of Korean Neurosurgical Society
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• 제51권3호
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• pp.160-163
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• 2012

We report an unusual case of lateral medullary infarction after successful embolization of the vertebral artery dissecting aneurysm (VADA). A 49-year-old man who had no noteworthy previous medical history was admitted to our hospital with a severe headache. Computed tomography (CT) revealed a subarachnoid hemorrhage, located in the basal cistern and posterior fossa. Cerebral angiography showed a VADA, that did not involve the origin of the posterior inferior cerebellar artery (PICA). We treated this aneurysm via endovascular trapping of the vertebral artery distal to the PICA. After operation, CT revealed post-hemorrhagic hydrocephalus, which we resolved with a permanent ventriculoperitoneal shunt procedure. Postoperatively, the patient experienced transient mild hoarsness and dysphagia. Magnetic resonance image (MRI) showed a small infarction in the right side of the medulla. The patient recovered well, though he still had some residual symptom of dysphagia at discharge. Such an event is uncommon but can be a major clinical concern. Further investigation to reveal risk factors and/or causative mechanisms for the medullary infarction after successful endovascular trapping of the VADA are sorely needed, to minimize such a complication.

• Journal of Genetic Medicine
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• 제11권1호
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• pp.31-35
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• 2014

Bardet-Biedl syndrome (BBS) is a rare ciliopathy generally inherited with an autosomal recessive pattern. BBS is characterized by 6 primary features namely retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism and a wide range of secondary features. To date, mutations in 16 genes have been identified as causative factors for BBS. Among them, the BBS1 and BBS10 genes are major disease-causing genes, and each of these gene mutations presents in more than 20% of all BBS patients. Genotype-phenotype correlations have not been observed in BBS, and there can be phenotypic overlap between BBS and other ciliopathies. In Korea, no molecular, genetically confirmed case of BBS has been reported to date. Herein, we describe the case of the first Korean siblings with BBS resulting from 2 BBS10 gene mutations who showed typical clinical phenotypes, including retinal dystrophy, obesity, intellectual disability, cystic tubular disease, and postaxial polydactyly.

• IMMUNE NETWORK
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• 제10권6호
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• pp.181-187
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• 2010

Excessive alcohol consumption is one of the critical causative factors leading to alcoholic liver disease (ALD). ALD is characterized by a wide spectrum of liver damage, ranging from simple uncomplicated liver steatosis (fatty liver) to steatohepatitis and liver fibrosis/cirrhosis. It has been believed that the obvious underlying cause for ALD is due to hepatocyte death induced by alcohol itself. However, recent sparkling studies have shown that diverse immune responses contribute to ALD because liver is enriched with numerous immune cells. Especially, a line of evidence has suggested that innate immune cells such as Kupffer cells and natural killer (NK)/NKT cells are significantly involved in the pathogenesis of ALD via production of pro-inflammatory cytokines and other mediators. Indeed, more interestingly, hepatic stellate cells (HSCs), known as a major cell inducing liver steatosis and fibrosis, can be killed by liver NK cells, which could be suppressed by chronic alcohol consumption. In this review, with the view of liver as predominant innate immune organ, we describe the pathogenesis of ALD in which what roles of innate immune cells are and how they are interacting with HSCs.

• Journal of Yeungnam Medical Science
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• 제32권1호
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• pp.38-41
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• 2015

Pyogenic liver abscess with metastatic septic complications is a rare and serious infectious disease if not treated properly. Pyogenic liver abscesses are caused by bacterial, fungal, or parasitic organisms. Escherichia coli used to be the predominant causative agent, but Klebsiella pneumoniae emerged as a major cause in the 1990s. Liver abscesses are caused by hepatic invasion via many routes, such as, the biliary tree, portal vein, hepatic artery, direct extension, or penetrating trauma. Furthermore, diabetes mellitus and malignant conditions are established important risk factors of K. pneumoniae liver abscesses and of septic metastasis, and several recent studies have asserted that K. pneumoniae liver abscess might be a presentation of occult or silent colon cancer. We report a case of K. pneumoniae liver abscess, metastatic septic pulmonary embolism, and endophthalmitis associated with diabetes and advanced gastric cancer.

• Clinics in Shoulder and Elbow
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• 제3권1호
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• pp.10-19
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• 2000

The aims of this retrospective study were to evaluate the results of inferior capsular shift operation which were approached anteriorly or posteriorly according to a main instability direction in contact sports population who had multidirectional shoulder instability. Fifty-three shoulders in 47 athletes who engaged in contact sports underwent an anterior or posterior inferior capsular shift procedure for the correction of multidirectional instability of the shoulder joint. The surgical approach was selected according to the predominant direction of the instability. Follow up was average of 42 months(24∼73 months). After anterior inferior capsular shift, anterior dislocation was recurred in three shoulders, posterior dislocation in one, and inferior dislocation in two shoulders. After posterior inferior capsular shift, one dislocation occurred anteriorly, one inferiorly and one posteriorly. The excessive tightening of capsule or improper diagnosis could be causative factors for the development of dislocation in the opposite direction to the preoperative major instability. Of six patients who could not return to their sports, five had bilateral repairs. Successful repair based on the criteria of the American shoulder and elbow association was achieved in 92% of anterior repairs, and 81 % of posterior repairs.

• 대한수의학회지
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• 제45권2호
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• pp.185-189
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• 2005

Actinobacillus pleuropneumoniae is the causative agent of a porcine contagious pleuropneumonia. Among several virulence factors including exotoxin (Apx toxins), LPS, transferrin-binding proteins, OMPs, and some proteases, Apx toxins have been major targets for the protection study. In this study, cloning and expression of A. pleuropneumoniae Apx I and Apx II toxin, which are produced by all highly virulent strains, were performed by Escherichia coli expression system. Genes coding Apx I and II toxin were amplified from the A. pleuropneumoniae serotype 5 genomic DNA using polymerase chain reaction and cloned to a prokaryotic expression vector, pRSET. Expression of the Apx I and Apx II coding sequences in E. coli resulted in the formation of insoluble inclusion bodies purified according to a denaturing purification protocol, which employs the use of guanidium. Recombinant proteins were purified using $Ni^{2+}$-charged resin affinity purification. This expression and purification system made it possible to produce Apx I and Apx II in large amounts for further immunologic studies.

• 한국양식학회지
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• 제11권2호
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• pp.203-212
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• 1998

남해안 일원에서 다양한 어류의 종묘생산 및 양식이 시도되고 있는데, 자어기에 종묘의대량폐사가 발생하여 문제의 심각성이 야기되고 있다. 본 연구에서는 일본 킨키대학에소 높은 경과를 올리고 있는 참돔의 서발육종 및 잡종강세에 의한 품종개량된 일명 킨키돔의 수정란을 국내에 이식하여 종묘생산시 대량폐사와 관련되는 수질변화 등을 조사하였다. 부화직후 자어의 평균전장은 2.93 mm이었으며, 일령 40일째에는 19.83~20.12 mm로 성장하였다. 종묘생산과정중 자어의 1차 감모현상은 일령 25~30일째(7.98~9.37 mm)에 발생하였으며, 생존율은 59.8~60.3%에서 32.1~32.5%로 감소하였다. 그 이후에는 거의 폐사 없었으며, 40일째의 생존율은 20.5~25.4%였다. 일령 2-~3-일째 수질은 II등급 이하였으며, 조사기간중 COD, $PO_4$-P, $NO_2$-N, $NO_3$-N 및 $NH_$-N은 각각 3, 7, 34, 6 및 8배씨 증가하였다. 사육수 및 자어의 총세균수는 시간이 경과함에 따라 증가하였으며, 일령 25일째의 총 세균수는 각각 $6.3{\times}10^6$~$2.3{\times}10^7$ cfu/ml, 4.3~$7.4{\times}10^6$ cfu/g였다. 한편, 일령 25일째 참돔 자어는 수면위를 선회하고 복북가 팽만되는 특징을 보이는 질병에 의하여 다수가 폐사되었으며, 병어에서 Vibrio spp.를 분리.동정하였다. 분리된 Vibrio spp. PSV-1균주는 참돔자어에 병원성이 있으며, 참돔자어의 $LD_50$dms $10^6$ cfu/ml 이상이었다. 이상이 결과로부터 참돔자어의 1차 대량폐사는 수질의 급격한 변화, 총세균수 증가 그리고 병원 생물의 복합적인 상호작용에 의한 것으로 추정된다.