The First Case of Familial Mediterranean Fever Associated with Renal Amyloidosis in Korea

Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by periodic episodes of fever and recurrent polyserositis. It is caused by a dysfunction of pyrin (or marenostrin) as a result of a mutation within the MEFV gene. It occurs mostly in individuals of Mediterranean origin; however, it has also been reported in non-Mediterranean populations. In this report, we describe the first case of FMF in a Korean child. As eight-year-old boy presented recurrent febrile attacks from an unknown cause, an acute scrotum and renal amyloidosis. He also showed splenomegaly, lymphadenopathy, pleural effusion, ascites and elevated acute phase reactants. After MEFV gene analysis, he was diagnosed as FMF combined with amyloidosis

Effect of severe neonatal morbidities on long term outcome in extremely low birthweight infants

PurposeTo assess the validity of individual and combined prognostic effects of severe bronchopulmonary dysplasia (BPD), brain injury, retinopathy of prematurity (ROP), and parenteral nutrition associated cholestasis (PNAC).MethodsWe retrospectively analyzed the medical records of 80 extremely low birthweight (ELBW) infants admitted to the neonatal intensive care unit (NICU) of the Severance Children's Hospital, and who survived to a postmenstrual age of 36 weeks. We analyzed the relationship between 4 neonatal morbidities (severe BPD, severe brain injury, severe ROP, and severe PNAC) and poor outcome. Poor outcome indicated death after a postmenstrual age of 36 weeks or survival with neurosensory impairment (cerebral palsy, delayed development, hearing loss, or blindness) between 18 and 24 months of corrected age.ResultsEach neonatal morbidity correlated with poor outcome on univariate analysis. Multiple logistic regression analysis revealed that the odds ratios (OR) were 4.9 (95% confidence interval [CI], 1.0-22.6; P=0.044) for severe BPD, 13.2 (3.0-57.3; P<.001) for severe brain injury, 5.3 (1.6-18.1; P=0.007) for severe ROP, and 3.4 (0.5-22.7; P=0.215) for severe PNAC. Severe BPD, brain injury, and ROP were significantly correlated with poor outcome, but not severe PNAC. By increasing the morbidity count, the rate of poor outcome was significantly increased (OR 5.2; 95% CI, 2.2-11.9; P<.001). In infants free of the above-mentioned morbidities, the rate of poor outcome was 9%, while the corresponding rates in infants with 1, 2, and more than 3 neonatal morbidities were 46%, 69%, and 100%, respectively.ConclusionIn ELBW infants 3 common neonatal mornidifies, severe BPD, brain injury and ROP, strongly predicts the risk of poor outcome

Genome-Wide Association Study Identifies Major Loci for Carcass Weight on BTA14 in Hanwoo (Korean Cattle)

<div><p>This genome-wide association study (GWAS) was conducted to identify major loci that are significantly associated with carcass weight, and their effects, in order to provide increased understanding of the genetic architecture of carcass weight in Hanwoo. This genome-wide association study identified one major chromosome region ranging from 23 Mb to 25 Mb on chromosome 14 as being associated with carcass weight in Hanwoo. Significant Bonferroni-corrected genome-wide associations (<i>P<1.52</i>×<i>10⁻⁶</i>) were detected for 6 Single Nucleotide Polymorphic (SNP) loci for carcass weight on chromosome 14. The most significant SNP was <i>BTB-01280026</i> (<i>P = 4.02×10⁻¹¹</i>), located in the 25 Mb region on Bos taurus autosome 14 (BTA14). The other 5 significant SNPs were <i>Hapmap27934-BTC-065223</i> (<i>P = 4.04×10⁻¹¹</i>) in 25.2 Mb, <i>BTB-01143580</i> (<i>P = 6.35×10⁻¹¹</i>) in 24.3 Mb, <i>Hapmap30932-BTC-011225</i> (<i>P = 5.92×10⁻¹⁰</i>) in 24.8 Mb, <i>Hapmap27112-BTC-063342</i> (<i>P = 5.18×10⁻⁹</i>) in 25.4 Mb, and <i>Hapmap24414-BTC-073009</i> (<i>P = 7.38×10⁻⁸</i>) in 25.4 Mb, all on BTA 14. One SNP (<i>BTB-01143580; P = 6.35×10⁻¹¹</i>) lies independently from the other 5 SNPs. The 5 SNPs that lie together showed a large Linkage disequilibrium (LD) block (block size of 553 kb) with LD coefficients ranging from 0.53 to 0.89 within the block. The most significant SNPs accounted for 6.73% to 10.55% of additive genetic variance, which is quite a large proportion of the total additive genetic variance. The most significant SNP (<i>BTB-01280026; P = 4.02×10⁻¹¹</i>) had 16.96 kg of allele substitution effect, and the second most significant SNP (<i>Hapmap27934-BTC-065223; P = 4.04×10⁻¹¹</i>) had 18.06 kg of effect on carcass weight, which correspond to 44% and 47%, respectively, of the phenotypic standard deviation for carcass weight in Hanwoo cattle. Our results demonstrated that carcass weight was affected by a major Quantitative Trait Locus (QTL) with a large effect and by many SNPs with small effects that are normally distributed.</p></div

Effect of the most significantly associated SNPs (<i>BTB_01143580</i> and <i>BTB_01280026</i>) on the carcass weight in the Hanwoo breed.

<p>The boxplots show the effects of the most significantly associated two SNPs and their haplotypes on the carcass weight.</p

Frequencies of favorable alleles of 6 SNP markers for carcass weight in the 1.1

<p>FA  =  favorable allele for carcass weight in Hanwoo (Korean brown cattle).</p><p>AG  =  Angus, BR  =  Brahman, HT  =  Holstein, HF  =  Hereford, LM  =  Limousine, KB  =  Korean brown Hanwoo, CHB  =  Korean Brindle Hanwoo, YBH  =  Chinese Yanbian cattle, CS  =  Chosun cattle and JBB  =  Jeju Black Hanwoo.</p