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1.
Journal of Central South University(Medical Sciences) ; (12): 322-327, 2021.
Article in English | WPRIM | ID: wpr-880662

ABSTRACT

Chronic myeloid leukemia with a significant increase of monocytes is rare and difficult to identify from chronic myelo-monocytic leukemia in clinic. A 31-year-old male patient with systemic pain was initially diagnosed as chronic myelo-monocytic leukemia, who was finally diagnosed as chronic myeloid leukemia by fusion gene and chromosome examination. In addition to the typical Ph chromosome, a rare chromosome translocation t(2; 7)(p13; p22) was observed. The detection of monocyte subsets by multi-parameter flow cytometry is a diagnostic marker to distinguish the above 2 diseases. The relationship between fusion genes and mononucleosis is not clear. Tyrosine kinase inhibitors or allogeneic hematopoietic stem cell transplantation can be used in the treatment for this disease.


Subject(s)
Adult , Humans , Male , Karyotype , Karyotyping , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics , Monocytes , Translocation, Genetic
2.
Pesqui. vet. bras ; 38(7): 1300-1306, July 2018. ilus
Article in English | LILACS, VETINDEX | ID: biblio-976436

ABSTRACT

Salmonella detection is a key point in food safety testing, because of the frequent association of this pathogen with food poisoning in humans. The standard bacteriological tests currently used for Salmonella-detection are time-consuming; therefore, there is a need to develop alternative methods to accelerate the detection. In order to accelerate Salmonella diagnosis, we used the immunomagnetic separation assay associated with bacteriophage P22 for the rapid detection of the following Salmonella serovars in chicken rinses of drumsticks, artificially contaminated with 5, 10, and 100 CFU/25mL of bacteria: Salmonella enterica subsp. enterica serovar Heidelberg (S. Heidelberg), Salmonella enterica subsp. enterica serovar Enteritidis (S. Enteritidis) and Salmonella enterica subsp. enterica serovar Typhimurium (S. Typhimurium). The efficiency of the technique, represented by the time required for detection of positive and negative samples, was compared with that of the standard diagnostic tests used for this pathogen, the bacteriological assay and the polymerase chain reaction (PCR)-based test. This study confirmed the ability of the bacteriophage-associated immunomagnetic separation assay to identify 99.6% of Salmonella-positive samples of the three serovars tested. In contrast, the bacteriological assay and PCR-based test detected 95.1% and 98.5% of the Salmonella-positive samples respectively.(AU)


A detecção de Salmonella é um ponto crucial para a segurança alimentar, devido a frequente associação deste patógeno com infecções alimentares em humanos. O método padrão para detecção de Salmonella é o bacteriológico, mas o tempo requerido para o processamento das amostras e o diagnóstico final é longo, por isso existe a necessidade de desenvolvimento de métodos alternativos que visem acelerar esta etapa. Para isto utilizamos a separação imunomagnética associada ao bacteriófago P22 como técnica de detecção rápida para os seguintes sorovares de Salmonella: Salmonella enterica subsp. enterica sorovar Heidelberg (S. Heidelberg), Salmonella enterica subsp. enterica sorovar Enteritidis (S. Enteritidis) e Salmonella enterica subsp. enterica sorovar Typhimurium (S. Typhimurium), os quais foram inoculados artificialmente em lavados de sobre-coxas de frango nas seguintes concentrações: 5, 10 e 100 UFC/25mL. A eficiência da técnica, representada pelo tempo requerido para detecção de amostras positivas ou negativas, foi comparado com os testes rotineiramente utilizados para detecção de Salmonella, o exame bacteriológico e a reação em cadeia da polimerase (PCR). Este estudo confirmou a capacidade do teste de separação imunomagnética associado a bacteriófago, o qual identificou 99,6% das amostras positivas para Salmonella, dos três sorovares testados. Já o bacteriológico e PCR identificaram respectivamente 95,1% e 98,5% das amostras positivas.(AU)


Subject(s)
Animals , Poultry/microbiology , Salmonella enterica/pathogenicity , Diagnostic Techniques and Procedures/veterinary
3.
The Korean Journal of Internal Medicine ; : 1045-1052, 2017.
Article in English | WPRIM | ID: wpr-187142

ABSTRACT

BACKGROUND/AIMS: The p22phox C242T gene polymorphism (rs4673) may be linked to an increased susceptibility for overt diabetic nephropathy (ODN), but the study results are still inconclusive. METHODS: To explore the relationship between p22phox C242T gene polymorphism and ODN, the current meta-analysis of 707 ODN patients and 745 controls from five individual studies was conducted. The pooled odds ratio (OR) and its corresponding 95% confidence interval (CI) were evaluated by either a random or fixed effect model. RESULTS: In our meta-analysis, a significant relationship between the p22phox C242T gene polymorphism and ODN was found under allelic (OR, 2.760; 95% CI, 1.400 to 5.450; p = 0.004), recessive (OR, 5.080; 95% CI, 1.020 to 25.430; p = 0.05), dominant (OR, 1.700; 95% CI, 1.167 to 2.477; p = 0.006), homozygous (OR, 3.900; 95% CI, 1.022 to 14.889; p = 0.046), heterozygous (OR, 1.523; 95% CI, 1.167 to 1.986; p = 0.002), and additive genetic models (OR, 2.019; 95% CI, 1.232 to 3.309; p = 0.005). CONCLUSIONS: A positive correlation between p22phox C242T gene polymorphism and ODN risk was found. The T allele carriers of p22phox C242T gene polymorphism might be predisposed to ODN.


Subject(s)
Humans , Alleles , Diabetic Nephropathies , Models, Genetic , Odds Ratio
4.
Invest. clín ; 57(3): 304-317, Sept. 2016. ilus, graf
Article in English | LILACS | ID: biblio-841120

ABSTRACT

Nef -HIV-1 has been shown to be involved in NADPH complex interaction and superoxide production. The aim of this work was to study the domains involved in the interaction between Nef and p22-phox. Two approaches were used: 1) in silico modelling, to determine the potential binding motifs and design Nef truncated forms and 2) functional assays. The results showed that GFPVT 68-72, FPDW 121-124 and REVLE 179-183 on Nef are critical for p22-phox (RPQIG 142-146 and PGGP 181-184) docking. However, only the region containing FPDW 121-124 on Nef is able to induce superoxide production. Understanding the molecular mechanisms involved in generating oxidative stress during HIV infection, is critical for therapeutic intervention, in order to minimize viral replication and dissemination.


Se ha evidenciado que Nef-VIH-1 está involucrado en la interacción con el complejo NADPH y la producción de superóxido. El objetivo de este trabajo fue identificar los dominios implicados en la interacción entre Nef y p22-phox. Se utilizaron dos estrategias: 1) análisis in silico para determinar los posibles motivos de unión y el diseño Nef formas truncadas y 2) ensayos funcionales. Los resultados mostraron que GFPVT 68-72, FPDW 121 a 124 y 179 a 183 REVLE de Nef son críticos para su unión con p22-phox (RPQIG 142-146 y 181-184 PGGP). Sin embargo, sólo la región que contiene FPDW 121-124 en Nef, es capaz de inducir la producción de superóxido. La comprensión de los mecanismos moleculares implicados en la generación de estrés oxidativo durante la infección por VIH, es crítico para la intervención terapéutica, con el fin de minimizar la replicación y la propagación viral.


Subject(s)
Humans , Reactive Oxygen Species , NADPH Oxidases/physiology , nef Gene Products, Human Immunodeficiency Virus/physiology
5.
The Journal of Practical Medicine ; (24): 2957-2959, 2015.
Article in Chinese | WPRIM | ID: wpr-482267

ABSTRACT

Objective To investigate the relation between the NOSP gene C242T polymorphism and Chinese Korean nationality EH patients with LVH. Methods 108 Chinese Korean controls and 231 Chinese Korean EH patients were enrolled in the research.NOSP gene C242T polymorphism was analyzed by PCR. EH patients were divided into EH and EH+LVH group,all of them were evaluated with CDUS for left ventricular mass index. Results The distribution of NOSP gene C242T polymorphism showed no significant difference compared with controls and EH group.There was significant difference in distribution of CC vs CT+TT genotype between EH and EH+ LVH patients.CC genotype is more dangerous for EH patients combined with LVH than CT and TT genotypes. Conclusions The NOSP gene C242T polymorphism has no relation with EH in Korean nationality people. The NOSP gene C242T polymorphism has relation with EH+LVH; and the CC genotype is a susceptible gene for the Korean EH patients with LVH.

6.
Chinese Pharmacological Bulletin ; (12): 1292-1297,1298, 2015.
Article in Chinese | WPRIM | ID: wpr-602802

ABSTRACT

Aim To investigate whether genistein pro-tects paraoxon-induced vascular endothelial dysfunction through down-regulating p22phox and Nox4 expressions as well as inhibiting the generation of ROS.Methods In this study,thoracic aortas were isolated from the male Sprague-Dawley(SD)rats and were divided into the following groups:① control group,the thoracic a-ortas were incubated with dimethyl sulfoxide (DMSO, 0.1%)for 30 min;② genistein group,the thoracic a-ortas were incubated with genistein(100 μmol·L -1 ) for 30 min;③ paraoxon group,the thoracic aortas were incubated with paraoxon at the concentration of 40.5 μmol · L -1 for 30 min; ④ paraoxon plus genistein groups,the thoracic aortas were incubated with paraoxon (40.5 μmol·L -1 )plus genistein (100μmol·L -1 )for 30 min.The expressions of p22phox and Nox4 mRNA were detected by RT-PCR and the protein expressions ofp 2 2 phox and Nox4 were detected by Western blot.Results Compared with the control group,the expressions of p22phox and Nox4 were markedly increased in the paraoxon group. In the genistein group,the expressions of p22phox and Nox4 were significantly repressed. When treated with genistein plus paraoxon,there was a marked increase in the expression of Nox4(P <0.05),but no signifi-cant difference in the expression of p22phox.The ex-pression of p22phox in the paraoxon plus genistein group was significantly decreased(P <0.05)as com-pared with paraoxin group,but there was no significant difference in the expression of Nox4.Conclusion Paraoxon may result in oxidative damage of vascular endothelium through up-regulating p22phox and Nox4 expressions,genistein may down-regulate the expres-sions of both and protect vascular endothelium.

7.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 1443-1446, 2015.
Article in Chinese | WPRIM | ID: wpr-483763

ABSTRACT

@#Objective To explore the feasibility of somatosensory evoked potentials (SEP) evaluating Tourette syndrome, based on the theory of SEP evaluating sensory-motor cortical function. Methods 33 cases of Tourette syndrome in our hospital from March 2014 to April 2015 were as the experiment group and 30 healthy participants were as the normal control group. Both groups were evaluated with Yale Global Tic Severity Scale (YGTSS) and SEP. Results There was no significant difference in N20 leak latency and leak-leak amplitude of SEP between 2 groups (P>0.05). The P22 leak latency prolonged (t=2.356, P<0.05) and the leak-leak amplitude decreased (t=2.507, P<0.05) in the experiment group compared with the normal control group. The YGTSS score was higher in the experiment group than in the normal control group (t=3.012, P<0.01). The P22 leak latency was positively (r=0.402, P<0.001), and the P22 leak-leak amplitude was negatively (r=-0.180, P<0.001) correlated with YGTSS score. Conclusion Children with Tourette syndrome are disordered in inhibiting sensory or mo-tor impulse through cortex-striatum-thalamus-cortex regulation circuit. SEP is considered as the objective indicator of patients with Tourette syndrome.

8.
Journal of Practical Stomatology ; (6): 792-795, 2014.
Article in Chinese | WPRIM | ID: wpr-475167

ABSTRACT

Objective:To investigate the influence of hepatocyte growth factor(HGF)on the expression of vascular endothelial growth factor C(VEGF-C)and the mechanism of HGF-induced VEGF-C expression in tongue squamous cell carcinoma Tca8113 cells.Methods:Tca8113 cells were cultured and exposed to HGF with various concentrations.The expression level of VEGF-C was assessed by ELISA.Signaling transduction inhibitors LY294002,U0126,SP600125,SB203580 was used to block PI3K/Akt,P44 /P22MAPK,JNK,P38MAPK signaling pathways,respectively.Then,the expression level of VEGF-C was detected by ELISA.Re-sults:The VEGF-C expression of Tca8113 cells increased at the beginning and decreased later with the increase of HGF concentra-tion.When the concentration of HGF was 40 ng/ml,VEGF-C expression level was the highest.Inhibitor LY294002 of PI3K/Akt and Inhibitor U0126 of P44 /P22MAPK significantly blocked the effects on HGF-induced VEGF-C up-regulation(P <0.01 ).Inhibitor SP600125 of JNK and inhibitor SB203580 of P38MAPK didn't interfere HGF-induced VEGF-C expression(P >0.05).Conclusion:HGF contributed to the expression of VEGF-C,PI3K/Akt and P44 /P22MAPK signaling pathways may be involved in HGF-induced VEGF-C up-regulation,and may play potential roles in lymphatic metastasis of oral squamous cell carcinoma.

9.
Journal of Clinical Pediatrics ; (12): 757-759, 2014.
Article in Chinese | WPRIM | ID: wpr-454105

ABSTRACT

Objective To investigate the diagnosis of a case with 7p15.3p22.1 microdeletion by applying array-based comparative genomic hybridization (array-CGH) and to analyze the relationship between the clinical manifestations and 7p15.3p22.1 microdeletion. Method Array-CGH technique was used to detect genomic copy number variations (CNVs) in an infant with normal karyotype after conventional chromosomal karyotyping. Results Array-CGH detected 7p15.3p22.1 deletion (chr7: 6777262-23981753), which was confirmed as pathogenic CNV after comparative analysis with database. Conclusion Array-CGH could serve as a useful complement for G-banding to be used in the clinical cytogenetic diagnosis.

10.
Journal of Genetic Medicine ; : 1-6, 2013.
Article in English | WPRIM | ID: wpr-83949

ABSTRACT

Chronic granulomatous disease (CGD) is a rare inherited disorder of a defective NADPH oxidase enzyme, resulting in very low or no production of superoxide and subsequent reactive oxygen species. Consequently, patients with CGD are highly susceptible to severe bacterial and fungal infections. CGD is a genetically heterogeneous disease caused by defects in any one of the genes encoding the NADPH oxidase components. CGD generally affects about 3-4 per 1,000,000 individuals; thus, it is surprising that the prevalence of CGD on Jeju Island is 34.3 per 1,000,000 individuals. At present, 20 patients with CGD from 14 unrelated families on Jeju Island have been identified; nine males and 11 females. All patients with CGD tested on Jeju Island had an identical and homozygous mutation (c.7C>T in CYBA, p.Q3X in p22phox). Therefore, all patients were autosomal recessive form of CGD. This strongly suggests that the unique and identical mutation in CYBA may be inherited from a common proband. Using mutation-specific primers to detect the mutated allele in CYBA, the frequency of subjects carrying a mutated allele was 1.3% of enrolled subjects from Seogwipo City. Further studies are necessary to elucidate how frequently this mutant allele occurs in the population on Jeju Island. Additionally, it is important to construct a national registry system to understand the pathophysiology of CGD and develop a strategy for long-term therapy.


Subject(s)
Female , Humans , Male , Alleles , Granulomatous Disease, Chronic , Korea , Lifting , NADPH Oxidases , Prevalence , Reactive Oxygen Species , Superoxides
11.
Chinese Journal of Hypertension ; (12)2007.
Article in Chinese | WPRIM | ID: wpr-591777

ABSTRACT

Backgroup and objective Angiotensin-converting enzyme 2 (ACE2) is the first known homologue of human ACE gene up till now,however,its regulatory role in oxidative stress remains unclear.Our aim is to in- vestigate the effects of recombinant ACE2 gene transfer on the expression of p22~(phox),a key subunit of NADPH oxi- dase,and malonyldialdehyde (MDA) levels induced by angiotension(Ang) Ⅱ in cultured human endothelial cells. Methods A recombinant plasmid encompassing human ACE2 gene (pACE2) was constructed and transfected into these cells.The mRNA and protein levels of p22~(phox) in endothelial cells were determined by real-time PCR and Western blotting,respectively.MDA contents were measured by thiobarbiturie acid colorimetrie method in cells. Results The mRNA and protein expressions of p22~(phox) were drastically enhanced after exposures of endothelial cells to Ang Ⅱ(100 nmol/L) and Ang Ⅳ(100 nmol/L),accompanied by an increase in MDA contents (n=6,P

12.
Chinese Journal of Hypertension ; (12)2007.
Article in Chinese | WPRIM | ID: wpr-590820

ABSTRACT

Background Mitochondria are the primary sites for ROS production within cells,Tempol(4-Hydroxy 2,2,6,6,tetramethyl piperidine)is a classic compounds targeting ROS scavengers in mitochondria.Objective To investigate the effects of Tempol on aortic function and remodeling in renovascular hypertensive rats.Methods The 2 kindey 1 clip hypertensive model was established in 24 male Wista rats and randomized to untreated hypertensive rats(n=6) or treated with Tempol(1 mmol/L) in drinking water(n=6) for 8 weeks.BP blood plasma angiotensinⅡ(AngⅡ),nitric oxide(NO),8-iso-PGF_(2?) level were determined.Isometric tension change of aortic rings were recorded;RT-PCR were used to measure the expression of NADPH p22 phox mRNA of aorta.Results Hypertensive rats had highter BP,AngⅡ,8-iso-PGF_(2?),media wall,media wall/lumen(W/L)(P

13.
Chinese Journal of Hypertension ; (12)2006.
Article in Chinese | WPRIM | ID: wpr-685997

ABSTRACT

Objective To study the anti-oxidative stress effects of benazepril and candesartan.Methods SHRs of 12 weeks old were given benazepril(10 mg/kg?d,n=9)or candesartan(4 mg/kg?d,n=9)or combina- tion(Ben:10 mg/kg?d+Can:4 mg/kg?d)for 12 weeks.The tail arterial pressure was measured every two weeks.At end of study,pathological changes in the thoracic aorta,activity of SOD,serum contents of NO and hydroxy radicals,plasma Ang Ⅱ and cGMP,eNOS and P22~(phox)protein expressions in aortic tunica intima were de- termined.Results The thoracic aorta wall was thickened markedly in SHRs,and blood pressure,hydroxy radi- cal,Ang Ⅱ and P22~(phox)protein expression were increased significantly,while the serum NO,level of cGMP and eNOS expression were decreased.Benazepril(Ben)or Candesartan(Can)inhibit the thickening of vessel wall, enhance the activity of SOD(Ben:68.7?2.1,Can:65.6?4.2 vs SHR:48.8?3.2 U/mL,P

14.
China Journal of Traditional Chinese Medicine and Pharmacy ; (12)2005.
Article in Chinese | WPRIM | ID: wpr-564430

ABSTRACT

Objective:To observe the effect of Radix Paeoniae Bubra(RPB)on NADPH oxidase p22phox,monocyte chemotactic protein-1(MCP-1)mRNA expression and neointimal hyperplasia after carotid artery balloon injury in cholesterol-fed rabbits.Methods:The rabbit model of carotid balloon injury was established adopting Clowes method,and treated with extract of RPB.Component of neointima and expression of proliferating cell nuclear antigen(PCNA)and macrophage was determined by immunochemical stain.The collagen of typeⅠwas detected by special staining for blood vessels and the area of neointima was measured by image assay system.Expression of NADPH oxidase p22phox mRNA,MCP-1 mRNA was detected by in situ hybridization and transcription-polymerase chain reaction.Results:RPB can attenuate the neointima area and proliferation of collagen typeⅠinduced by balloon-injury,remarkable prevent the formation of restenosi,and down-regulate expression of NADPH oxidase p22 and MCP-1mRNA significantly and decrease the degree of macrophages infiltration especially in vessel wall of injuring carotid artery.Conclusions:RPB inhibited NADPH oxidase P22Phox and MCP-1 mRNA expression,and modestly reduced neointimal hyperplasia,which might be partly attributed to its antioxidant and inflammatory effects.

15.
Article in English | LILACS-Express | LILACS, VETINDEX | ID: biblio-1469455

ABSTRACT

The application of rapid methods is crucial for the HACCP program implantation in food industry. In this context, Phage Amplification Assay is a good candidate because is based on the interactions of phage and their host bacteria. This method using phage P22 was applied with to detect Salmonella cells in chicken breast. Samples of 25 g of chicken breast were diluted and the appropriate dilutions were used in phage amplification assay for Salmonella detection. After 3-4 h of incubation, it was observed a phage titre of approximately 10(4) pfu mL-1, indicating that there were Salmonella cells which were naturally present in the meat. The presence of Salmonella cells were verified by using direct plating on XLD agar and by conventional enrichment procedure. The colonies suspected to be Salmonella were serologically tested and were identified as belonging to the serogroups B (S. typhimurium group) and D (S. enteritidis group). It can be concluded that this method provides a rapid and alternative application for Salmonella detection in food samples reducing both time and laboratory work to 3-4 hours.


A aplicação de métodos rápidos é crucial para a implantação de programas de HACCP em indústrias de alimentos. Neste contexto, o método de amplificação de bacteriófagos é um instrumento de diagnóstico importante porque está baseado na interação dos bacteriófagos com suas células hospedeiras. Este método, usando o bacteriófago P22, foi aplicado para detectar Salmonella em peito de frango. Amostras de 25 g de peito de frango foram diluídas e as diluições apropriadas foram usadas no método de amplificação de bacteriófagos na detecção de Salmonella. Após 3-4 horas de incubação, foi observado uma titulação de partículas virais de, aproximadamente, 10(4) ufp mL-1 (unidades formadoras de placas virais), indicando a presença de células de Salmonella na carne de frango. A comprovação da presença de Salmonella neste produto foi verificada usando-se plaqueamento direto em ágar XLD e procedimento de enriquecimento convencional. As colônias suspeitas de Salmonella foram sorologicamente testadas e identificadas como pertencendo aos sorogrupos B (grupo de S. typhimurium) e D (grupo de S. enteritidis). Portanto, concluiu-se que este método pode ser aplicado, na detecção de Salmonella em alimentos, porque fornece rápido e conclusivo resultado, reduzindo o tempo de análise e o trabalho laboratorial para 3-4 horas.

16.
Article in English | LILACS-Express | LILACS, VETINDEX | ID: biblio-1469502

ABSTRACT

The application of rapid methods is crucial for the HACCP program implantation in food industry. In this context, Phage Amplification Assay is a good candidate because is based on the interactions of phage and their host bacteria. This method using phage P22 was applied with to detect Salmonella cells in chicken breast. Samples of 25 g of chicken breast were diluted and the appropriate dilutions were used in phage amplification assay for Salmonella detection. After 3-4 h of incubation, it was observed a phage titre of approximately 10(4) pfu mL-1, indicating that there were Salmonella cells which were naturally present in the meat. The presence of Salmonella cells were verified by using direct plating on XLD agar and by conventional enrichment procedure. The colonies suspected to be Salmonella were serologically tested and were identified as belonging to the serogroups B (S. typhimurium group) and D (S. enteritidis group). It can be concluded that this method provides a rapid and alternative application for Salmonella detection in food samples reducing both time and laboratory work to 3-4 hours.


A aplicação de métodos rápidos é crucial para a implantação de programas de HACCP em indústrias de alimentos. Neste contexto, o método de amplificação de bacteriófagos é um instrumento de diagnóstico importante porque está baseado na interação dos bacteriófagos com suas células hospedeiras. Este método, usando o bacteriófago P22, foi aplicado para detectar Salmonella em peito de frango. Amostras de 25 g de peito de frango foram diluídas e as diluições apropriadas foram usadas no método de amplificação de bacteriófagos na detecção de Salmonella. Após 3-4 horas de incubação, foi observado uma titulação de partículas virais de, aproximadamente, 10(4) ufp mL-1 (unidades formadoras de placas virais), indicando a presença de células de Salmonella na carne de frango. A comprovação da presença de Salmonella neste produto foi verificada usando-se plaqueamento direto em ágar XLD e procedimento de enriquecimento convencional. As colônias suspeitas de Salmonella foram sorologicamente testadas e identificadas como pertencendo aos sorogrupos B (grupo de S. typhimurium) e D (grupo de S. enteritidis). Portanto, concluiu-se que este método pode ser aplicado, na detecção de Salmonella em alimentos, porque fornece rápido e conclusivo resultado, reduzindo o tempo de análise e o trabalho laboratorial para 3-4 horas.

17.
Journal of the Korean Pediatric Society ; : 128-132, 2000.
Article in Korean | WPRIM | ID: wpr-217856

ABSTRACT

Greig cephalopolysyndactyly syndrome (GCPS) is a disorder characterized by postaxial polydactyly of the hand, broad or occasionally bifid thumbs, preaxial polydactyly of the feet, broad halluces, syndactyly of the fingers or toes, macrocephaly, frontal bossing, hypertelorism and a broad nasal bridge. Intelligence is usually normal, although borderline IQ has been reported. Advanced bone age, mild hydrocephalus, craniosynostosis and agenesis of the corpus callosum are occasionally associated abnormalities. We report here a 10-day-old male infant with GCPS. Birth Weight was 2,400kg and gestational age was 39 wks. He had a wide broad high forehead, hypertelorism, broad nose base and cryptorchidism. He had preaxial polysyndactyly due to duplication of the right thumb and left accessory thumb, duplication of both halluces and syndactyly of both toes and fingers. His brain MRI showed corpus callosum agenesis, mild hydrocephalus and small choroid plexus cyst. High resolution chromosomal analysis showed a de novo balanced translocation 46, XY, t (7;8) (p22;q24.1). We report the first GCPS case in Korea with brief literature.


Subject(s)
Humans , Infant , Male , Agenesis of Corpus Callosum , Birth Weight , Brain , Choroid Plexus , Corpus Callosum , Craniosynostoses , Cryptorchidism , Fingers , Foot , Forehead , Gestational Age , Hand , Hydrocephalus , Hypertelorism , Intelligence , Korea , Megalencephaly , Magnetic Resonance Imaging , Nose , Polydactyly , Syndactyly , Thumb , Toes
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