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A Case of Late-onset Episodic Myopathic Form with Intermittent Rhabdomyolysis of Very-long-chain acyl-coenzyme A Dehydrogenase (VLCAD) Deficiency Diagnosed by Multigene Panel Sequencing (유전자패널 시퀀싱으로 진단된 성인형 very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) 결핍증 증례)

  • Sohn, Young Bae;Ahn, Sunhyun;Jang, Ja-Hyun;Lee, Sae-Mi
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.19 no.1
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    • pp.20-25
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    • 2019
  • Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessively inherited metabolic disorder of mitochondrial long-chain fatty acid oxidation. The clinical features of VLCAD deficiency is classified by three clinical forms according to the severity. Here, we report a case of later-onset episodic myopathic form of VLCAD deficiency whose diagnosis was confirmed by plasma acylcarnitine analysis and" multigene panel multigene panel sequencing. A 34-year old female patient visited genetics clinic for genetic evaluation for history of recurrent myopathy with intermittent rhabdomyolysis. She suffered first episode of rhabdomyolysis with acute renal failure requiring hemodialysis at twelve years old. After then, she suffered several times of recurrent rhabdomyolysis provoked by prolonged exercise or fasting. Physical and neurologic exam was normal. Serum AST/ALT and creatinine kinase (CK) levels were mildly elevated. However, according to her previous medical records, her AST/ALT, CK were highly elevated when she had rhabdomyolysis. In suspicion of fatty acid oxidation disorder, multigene panel sequencing and plasma acylcarnitine analysis were performed in non-fasting, asymptomatic condition for the differential diagnosis. Plasma acylcarnitine analysis revealed elevated levels of C14:1 ($1.453{\mu}mol/L$; reference, 0.044-0.285), and C14:2 ($0.323{\mu}mol/L$; 0.032-0.301) and upper normal level of C14 ($0.841{\mu}mol/L$; 0.065 -0.920). Two heterozygous mutation in ACADVL were detected by multigene panel sequencing and confirmed by Sanger sequencing: c.[1202G>A(;) 1349G>A] (p.[(Ser 401Asn)(;)(Arg450His)]). Diagnosis of VLCAD deficiency was confirmed and frequent meal with low-fat diet was educated for preventing acute metabolic derangement. Fatty acid oxidation disorders have diagnostic challenges due to their intermittent clinical and laboratorial presentations, especially in milder late-onset forms. We suggest that multigene panel sequencing could be a useful diagnostic tool for the genetically and clinically heterogeneous fatty acid oxidation disorders.

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Immunogenicity and Safety of a Haemophilus influenzae Type b Polysaccharide-Tetanus Toxoid Conjugate Vaccine (PRP-T: HiberixTM) in Korean Infants (우리나라 영아에서 PRP-T(HiberixTM)백신의 면역원성 및 안전성에 대한 연구)

  • Chung, Eun Hee;Kim, Yae Jean;Kim, Yun Kyung;Kim, Dong Ho;Seo, Jeong Wan;Lee, Hoan Jong
    • Pediatric Infection and Vaccine
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    • v.10 no.1
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    • pp.71-80
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    • 2003
  • Purpose : Four kinds of Haemophilus influenzae type b protein conjugate vaccines, PRPD, PRP-T, PRP-OMP and PRP-CRM197, have been developed, and PRP-T vaccines are currently produced by two manufacturer, $ActHib^{(R)}$ by Aventis and $Hiberix^{TM}$ by GlaxoSmith-Kline Biologicals. The purpose of this study is to evaluate the immunogenicity and safety of $Hiberix^{TM}$ in Korean infants. Methods : Seventy-three healthy infants(43 male infants) were recruited for this study after parental informed consent was obtained. Each infant was vaccinated at 2, 4 and 6 months of age with the study vaccine. At each visit, infants were also immunized with DTaP, trivalent oral polio vaccine and hepatitis B vaccine when indicated. The serum anti-PRP antibody was measured at prevaccination, 2 month later after the 2nd dose, and 1 month later after the 3rd dose by the ELISA method. The local and systemic adverse reactions of vaccination were monitored for 3 consecutive days after each immunization. Immunogenicity of vaccine was evaluated in infants who received all the scheduled immunization and the adverse reactions were evaluated for infants who received at least one dose of the study vaccine. Results : Among seventy three infants, enrolled in this study; sixty three(37 male infants) completed all the scheduled immunizations. The geometric mean titer(GMT) of anti-PRP antibodies at prevaccination was 0.17 ${\mu}g/mL$(95% confidence interval[CI]; 0.13~0.22). The GMT of anti-PRP antibodies increased to 4.14 ${\mu}g/mL$(95% CI; 2.65~6.48) at 2 month later after the 2nd dose of PRP-T and 14.65 ${\mu}g/mL$(95% CI; 10.83~19.81) at 1 month later after the 3rd dose. Anti-PRP antibody ${\geq}0.15$ ${\mu}g/mL$, was observed in 98.4%(95% CI; 91.8~100) after 2 doses and 100%(95% CI; 100~100) after 3 doses. Anti-PRP antibody ${\geq}1.0$ ${\mu}g/mL$, was obtained in 77.8%(95% CI; 67.5~88.0) after 2 doses, and 98.4%(95% CI; 95.3~100) after 3 doses. Most of the adverse reaction after vaccination were mild. Irritability, the most common systemic reaction, was observed in 45.5%, followed by drowsiness(30.5%), poor feeding(26.7%) and fever(5.6%). Among the local reactions tenderness was observed in 7.9%, redness(${\geq}5$ mm) in 2.8% and swelling(${\geq}5$ mm) in 1.8%. Conclusion : The PRP-T vaccine used in this study was highly immunogenic and safe in Korean young infants. The finding that high GMT and high frequency of infants with a protective titer achieved after 2 doses is consistent with the previous studies which were done with a PRP-T vaccine of other manufacturer. This study suggests that the immunization schedule of PRP-T vaccine for Korean infants may need re-evaluation.

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Studies on the Changes of Reproductive Organs, Serum Sex Hormones and Metabolites according to the Gestation Period in Rabbit (가토(家兎)의 임신(姙娠)에 따른 생식기관(生殖器官), 혈중(血中) 성(性)Hormone 및 대사물질(代謝物質)의 변화(變化)에 관(關)한 연구(硏究))

  • Lee, Kyu Seung;Han, Sung Wook;Park, Chang Sik
    • Korean Journal of Agricultural Science
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    • v.9 no.1
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    • pp.303-313
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    • 1982
  • The study was conducted to find out the concentrations of sex hormones and the contents of metabolites in serum, and the changes of weights and tissues on ovary, thyroid gland and adrenal gland according to gestation period in rabbit. The results were summarized as follows: 1. The ovary weights were increased significantly with the time e lapse after gestation and recovered normally at 5 days after parturition. In the histological changes of ovary, the lutein cells were hypertrophied and the secretory granules were increased actively until 3 weeks after gestation, and then a trophied thereafter. 2. The thyroid gland weights at all observation times were higher than those in control group, and the significance was recognized at 1, 3 and 4 weeks after gestation. The histological features of the secretory epithelium were the hyper trophic and columnar condition stimulating the functional state from 1 week after gestation. 3. The adrenal gland weights in experimental group were recognized significantly at 4 weeks after gestation, but showed higher than those in control group at all observation times. The zona fasciculata and zona reticularis of the gland showed the slight hypertrophic condition, but the zona glomeerulosa and adrenal medulla did not find out any particular changes. 4. The serum concentrations of progesterone and LH reached a peak level at 2 weeks and 1 week after geestation respectively, and rapidly began to decline thereafter. 5. The serum concentrations of estradiol-$17{\beta}$ and FSH were not detected below 20.0 pg/ml and 1.3 mIU/ml respectively. 6. The contents of total protein and non-protein nitrogen nitrogen were decreased gradually with the time elapse after gestation, but the significant differences were recognized from 3 weeks. 7. The total lipids were not changed markedly until 3 weeks, but increased significantly at 4 weeks after gestation and at 5 days after parturition. 8. The serum cholesterol tended to be decreased until 3 weeks, but increased at 4 weeks after gestation and at 5 days after parturition. 9. The serum calcium showed a continuous decrease during the gestation period, but the significant differences were recognized at 3 and 4 weeks. The serum phosphorus also had a significant decrease at 4 weeks after gestation.

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The Patterns of Change in Arterial Oxygen Saturation and Heart Rate and Their Related Factors during Voluntary Breath holding and Rebreathing (자발적 호흡정지 및 재개시 동맥혈 산소포화도와 심박수의 변동양상과 이에 영향을 미치는 인자)

  • Lim, Chae-Man;Kim, Woo-Sung;Choi, Kang-Hyun;Koh, Youn-Suck;Kim, Dong-Soon;Kim, Won-Dong
    • Tuberculosis and Respiratory Diseases
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    • v.41 no.4
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    • pp.379-388
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    • 1994
  • Background : In sleep apnea syndrome, arterial oxygen saturation($SaO_2$) decreases at a variable rate and to a variable degree for a given apneic period from patient to patient, and various kinds of cardiac arrythmia are known to occur. Factors supposed to affect arterial oxygen desaturation during apnea are duration of apnea, lung voulume at which apnea occurs, and oxygen consumption rate of the subject. The lung serves as preferential oxygen source during apnea, and there have been many reports related with the influence of lung volume on $SaO_2$ during apnea, but there are few, if any, studies about the influence of oxygen consumption rate of an individual on $SaO_2$ during breath holding or about the profile of arterial oxygen resaturation after breathing resumed. Methods : To investigate the changes of $SaO_2$ and heart rate(HR) during breath holding(BH) and rebreathing(RB) and to evaluate the physiologic factors responsible for the changes, lung volume measurements, and arterial blood gas analyses were performed in 17 healthy subjects. Nasal airflow by thermistor, $SaO_2$ by pulse oxymeter and ECG tracing were recorded on Polygraph(TA 4000, Gould, U.S.A.) during voluntary BH & RB at total lung capacity(TLC), at functional residual capacity(FRC) and at residual volume(RV), respectively, for the study subjects. Each subject's basal metabolic rate(BMR) was assumed on Harris-Benedict equation. Results: The time needed for $SaO_2$ to drop 2% from the basal level during breath holding(T2%) were $70.1{\pm}14.2$ sec(mean${\pm}$standard deviation) at TLC, $44.0{\pm}11.6$ sec at FRC, and $33.2{\pm}11.1$ sec at RV(TLC vs. FRC, p<0.05; FRC vs. RV, p<0.05). On rebreathing after $SaO_2$ decreased 2%, further decrement in $SaO_2$ was observed and it was significantly greater at RV($4.3{\pm}2.1%$) than at TLC($1.4{\pm}1.0%$)(p<0.05) or at FRC($1.9{\pm}1.4%$)(p<0.05). The time required for $SaO_2$ to return to the basal level after RB(Tr) at TLC was not significantly different from those at FRC or at RV. T2% had no significant correlation either with lung volumes or with BMR respectively. On the other hand, T2% had significant correlation with TLC/BMR(r=0.693, p<0.01) and FRC/BMR (r=0.615, p<0.025) but not with RV/BMR(r=0.227, p>0.05). The differences between maximal and minimal HR(${\Delta}HR$) during the BH-RB manuever were $27.5{\pm}9.2/min$ at TLC, $26.4{\pm}14.0/min$ at RV, and $19.1{\pm}6.0/min$ at FRC which was significantly smaller than those at TLC(p<0.05) or at RV(p<0.05). The mean difference of 5 p-p intervals before and after RB were $0.8{\pm}0.10$ sec and $0.72{\pm}0.09$ sec at TLC(p<0.001), $0.82{\pm}0.11$ sec and $0.73{\pm}0.09$ sec at FRC(p<0.025), and $0.77{\pm}0.09$ sec and $0.72{\pm}0.09$ sec at RV(p<0.05). Conclusion Healthy subjects showed arterial desaturation of various rates and extent during breath holding at different lung volumes. When breath held at lung volume greater than FRC, the rate of arterial desaturation significantly correlated with lung volume/basal metabolic rate, but when breath held at RV, the rate of arterial desaturation did not correlate linearly with RV/BMR. Sinus arrythmias occurred during breath holding and rebreathing manuever irrespective of the size of the lung volume at which breath holding started, and the amount of change was smallest when breath held at FRC and the change in vagal tone induced by alteration in respiratory movement might be the major responsible factor for the sinus arrythmia.

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Ecological Changes of Insect-damaged Pinus densiflora Stands in the Southern Temperate Forest Zone of Korea (I) (솔잎혹파리 피해적송림(被害赤松林)의 생태학적(生態学的) 연구(研究) (I))

  • Yim, Kyong Bin;Lee, Kyong Jae;Kim, Yong Shik
    • Journal of Korean Society of Forest Science
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    • v.52 no.1
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    • pp.58-71
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    • 1981
  • Thecodiplosis japonesis is sweeping the Pinus densiflora forests from south-west to north-east direction, destroying almost all the aged large trees as well as even the young ones. The front line of infestation is moving slowly but ceaselessly norhwards as a long bottle front. Estimation is that more than 40 percent of the area of P. densiflora forest has been damaged already, however some individuals could escapes from the damage and contribute to restore the site to the previous vegetation composition. When the stands were attacked by this insect, the drastic openings of the upper story of tree canopy formed by exclusively P. densiflora are usually resulted and some environmental factors such as light, temperature, litter accumulation, soil moisture and offers were naturally modified. With these changes after insect invasion, as the time passes, phytosociologic changes of the vegetation are gradually proceeding. If we select the forest according to four categories concerning the history of the insect outbreak, namely, non-attacked (healthy forest), recently damaged (the outbreak occured about 1-2 years ago), severely damaged (occured 5-6 years ago), damage prolonged (occured 10 years ago) and restored (occured about 20 years ago), any directional changes of vegetation composition could be traced these in line with four progressive stages. To elucidate these changes, three survey districts; (1) "Gongju" where the damage was severe and it was outbroken in 1977, (2) "Buyeo" where damage prolonged and (3) "Gochang" as restored, were set, (See Tab. 1). All these were located in the south temperate forest zone which was delimited mainly due to the temporature factor and generally accepted without any opposition at present. In view of temperature, the amount and distribution of precipitation and various soil factor, the overall homogeneity of environmental conditions between survey districts might be accepted. However this did not mean that small changes of edaphic and topographic conditions and microclimates can induce any alteration of vegetation patterns. Again four survey plots were set in each district and inter plot distance was 3 to 4 km. And again four subplots were set within a survey plot. The size of a subplot was $10m{\times}10m$ for woody vegetation and $5m{\times}5m$ for ground cover vegetation which was less than 2 m high. The nested quadrat method was adopted. In sampling survey plots, the followings were taken into account: (1) Natural growth having more than 80 percent of crown density of upper canopy and more than 5 hectares of area. (2) Was not affected by both natural and artificial disturbances such as fire and thinning operation for the past three decades. (3) Lower than 500 m of altitude (4) Less than 20 degrees of slope, and (5) Northerly sited aspect. An intensive vegetation survey was undertaken during the summer of 1980. The vegetation was devided into 3 categories for sampling; the upper layer (dominated mainly by the pine trees), the middle layer composed by oak species and other broad-leaved trees as well as the pine, and the ground layer or the lower layer (shrubby form of woody plants). In this study our survey was concentrated on woody species only. For the vegetation analysis, calculated were values of intensity, frequency, covers, relative importance, species diversity, dominance and similarity and dissimilasity index when importance values were calculated, different relative weights as score were arbitrarily given to each layer, i.e., 3 points for the upper layer, 2 for the middle layer and 1 for the ground layer. Then the formula becomes as follows; $$R.I.V.=\frac{3(IV\;upper\;L.)+2(IV.\;middle\;L.)+1(IV.\;ground\;L.)}{6}$$ The values of Similarity Index were calculated on the basis of the Relative Importance Value of trees (sum of relative density, frequency and cover). The formula used is; $$S.I.=\frac{2C}{S_1+S_2}{\times}100=\frac{2C}{100+100}{\times}100=C(%)$$ Where: C = The sum of the lower of the two quantitative values for species shared by the two communities. $S_1$ = The sum of all values for the first community. $S_2$ = The sum of all values for the second community. In Tab. 3, the species composition of each plot by layer and by district is presented. Without exception, the species formed the upper layer of stands was Pinus densiflora. As seen from the table, the relative cover (%), density (number of tree per $500m^2$), the range of height and diameter at brest height and cone bearing tendency were given. For the middle layer, Quercus spp. (Q. aliena, serrata, mongolica, accutissina and variabilis) and Pinus densiflora were dominating ones. Genus Rhodedendron and Lespedeza were abundant in ground vegetation, but some oaks were involved also. (1) Gongju district The total of woody species appeared in this district was 26 and relative importance value of Pinus densiflora for the upper layer was 79.1%, but in the middle layer, the R.I.V. for Quercus acctissima, Pinus densiflora, and Quercus aliena, were 22.8%, 18.7% and 10.0%, respectively, and in ground vegetation Q. mongolica 17.0%, Q. serrata 16.8% Corylus heterophylla 11.8%, and Q. dentata 11.3% in order. (2) Buyeo district. The number of species enumerated in this district was 36 and the R.I.V. of Pinus densiflora for the uppper layer was 100%. In the middle layer, the R.I.V. of Q. variabilis and Q. serrata were 8.6% and 8.5% respectively. In the ground vegetative 24 species were counted which had no more than 5% of R.I.V. The mean R.I.V. of P.densiflora ( totaling three layers ) and averaging four plots was 57.7% in contrast to 46.9% for Gongju district. (3) Gochang-district The total number of woody species was 23 and the mean R.I.V. of Pinus densiflora was 66.0% showing greater value than those for two former districts. The next high value was 6.5% for Q. serrata. As the time passes since insect outbreak, the mean R.I.V. of P. densiflora increased as the following order, 46.9%, 57.7% and 66%. This implies that P. densiflora was getting back to its original dominat state again. The pooled importance of Genus Quercus was decreasing with the increase of that for Pinus densiflora. This trend was contradict to the facts which were surveyed at Kyonggi-do area (the central temperate forest zone) reported previously (Yim et al, 1980). Among Genus Quercus, Quercus acutissina, warm-loving species, was more abundant in the southern temperature zone to which the present research is concerned than the central temperate zone. But vice-versa was true with Q. mongolica, a cold-loving one. The species which are not common between the present survey and the previous report are Corpinus cordata, Beltala davurica, Wisturia floribunda, Weigela subsessilis, Gleditsia japonica var. koraiensis, Acer pseudosieboldianum, Euonymus japonica var. macrophylla, Ribes mandshuricum, Pyrus calleryana var. faruiei, Tilia amurensis and Pyrus pyrifolia. In Figure 4 and Table 5, Maximum species diversity (maximum H'), Species diversity (H') and Eveness (J') were presented. The Similarity indices between districts were shown in Tab. 5. Seeing Fig. 6, showing two-dimensional ordination of polts on the basis of X and Y coordinates, Ai plots aggregate at the left site, Bi plots at lower site, and Ci plots at upper-right site. The increasing and decreasing patterns as to Relative Density and Relative Importance Value by genus or species were given in Fig. 7. Some of the patterns presented here are not consistent with the previously reported ones (Yim, et al, 1980). The present authors would like to attribute this fact that two distinct types of the insect attack, one is the short war type occuring in the south temperate forest zone, which means that insect attack went for a few years only, the other one is a long-drawn was type observed at the temperate forest zone in which the insect damage went on continuously for several years. These different behaviours of infestation might have resulted the different ways of vegetational change. Analysing the similarity indices between districts, the very convincing results come out that the value of dissimilarity index between A and B was 30%, 27% between B and C and 35% between A and C (Table 6). The range of similarity index was obtained from the calculation of every possible combinations of plots between two districts. Longer time isolation between communities has brought the higher value of dissimilarity index. The main components of ground vegetation, 10 to 20 years after insect outbreak, become to be consisted of mainly Genus Lespedeza and Rhododendron. Genus Quercus which relate to the top dorminant state for a while after insect attack was giving its place to Pinus densiflora. It was implied that, provided that the soil fertility, soil moisture and soil depth were good enough, Genus Quercuss had never been so easily taken ever by the resistant speeies like Pinus densiflora which forms the edaphic climax at vast areas of forest land. Usually they refer Quercus to the representative component of the undisturbed natural forest in the central part of this country.

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Time Course Variation of Vitamin $C_3$ Content in Leg Skin of Broiler Chicks Exposed to Different Dose of UVB Light (자외선의 상이한 선양을 조사한 브로일러 병아리의 다리 피부중 비타민 $C_3$ 함양의 경시적 변화)

  • 장윤환;김강수;여영수;강훈석;조인호;배은경
    • Korean Journal of Poultry Science
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    • v.20 no.2
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    • pp.93-105
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    • 1993
  • This study was carried out to determine the concentrations of previtamin D$_3$(PreD$_3$), lumisterol$_3$(L3), tachystero1$_3$(73), vitamin D$_3$(VD$_3$) and provitamin D$_3$(ProD$_3$) in leg skins of broiler chicks exposed to UVB lights (maximum intensity at 297 nm) with dose of 0.204 or 0.409 mJ/$\textrm{cm}^2$(30 or 60 min irradiation) . The broiler Hubbard line day old chicks(2 dose $\times$9 elapsed time $\times$4 replica+10 control=82) were fed VD-deficient diet for 31 days in a windowless subdued light room. The skin was collected at 0, 6, 12, 18, 30, 42, 66, 90 or 138 hr after UVB irradiation. The skin lipid was extracted by 9% ethyl acetate/n-hexane, and the fraction of VD$_3$ and its analogues was purified by Sep-Pak silica cartridge. The straight phase HPLC was utilized to analyze ProD$_3$ and its products. The mole %(absolute level expressed in ng/$\textrm{cm}^2$) of PreD$_3$ in leg skin (epidermis+dermis) was 4.67%(44 ng/$\textrm{cm}^2$) or 3.97%(37 ng/$\textrm{cm}^2$) right after UVB irradiation by 0.204 or 0.409 mJ/$\textrm{cm}^2$(30 or 60 min) at 15 cm distance, respectively. It content in leg skin at 0 hr after exposure was 7.24%(12 ng/$\textrm{cm}^2$) or 0.92%(9 ng/$\textrm{cm}^2$), respectively. The increase in irradiation dose did not affect proportionally the If synthesis.73 concentration in leg skin was 0.58%(S ng/$\textrm{cm}^2$) or 0.57%(6 ng/$\textrm{cm}^2$), respectively 0 hr after irradiation. The VD$_3$ in leg skin of birds exposed to UVB light with dose of 0.204 or 0.409 mJ/$\textrm{cm}^2$ was 2.13% (21 ng/$\textrm{cm}^2$) or 0.97% (16ng/$\textrm{cm}^2$), respectively at 0 hr after exposure, 2.72%(26ng/$\textrm{cm}^2$) or 3.84%(37ng/$\textrm{cm}^2$), respectively at 6 hr, and 4.30% ((33ng/$\textrm{cm}^2$) or 6.40%(76ng/$\textrm{cm}^2$), respectively at 12 hr. The peak concentration of VD$_3$ was presented at 18 or 30 hr when 0.204 or 0.409 mJ/$\textrm{cm}^2$) was treated, respectively. It was shown that 18~30 hr were necessary for the thermal conversion of PreD$_3$ into VD$_3$ in the leg skin of broiler chicks. The ProD$_3$ contents in leg skins of negative control, 0.204 mJ/$\textrm{cm}^2$ and 0.409 mJ/$\textrm{cm}^2$ treated birds were 966, 948 and 815 ng/$\textrm{cm}^2$, respectively at right before and after UVB exposure. It was estimated that 18 or 151 ng/$\textrm{cm}^2$ of ProD$_3$ was isomerized to PreD$_3$, L$_3$, T$_3$ and VD$_3$ when exposed to 0.204 or 0.409 mJ/$\textrm{cm}^2$, respective)y. Consequently it was shown that when double dose of UVB light was applied to irradiate the chick body, more but not double synthesis of VD$_3$ and its analogues was occured in leg skin of brolier chicks.

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