Spinal muscular atrophy (SMA) type I is a common severe autosomal recessive inherited neuromuscular disorder that has been mapped to chromosome 5q11.2-13.3. The survival motor neuron (SMN) gene, a candidate gene, is known to be deleted in 96% of patients with SMA type I. Presently, PCR and single strand conformation polymorphism (PCR-SSCP) analyses have been made possible for application to both archival slides and paraffin-embedded tissues. Archival materials represent valuable DNA resources for genetic diagnosis. We applied these methods for the identification of SMN gene of SMA type I in archival specimens for the prenatal diagnosis. In this study, we performed the prenatal diagnosis with chorionic villus sampling (CVS) cells on two women who had experienced neonatal death of SMA type I. DNA extraction was done from archival slide and tissue materials and PEP-PCR was performed using CVS cells. In order to identify common deletion region of SMN and neuronal apoptosis-inhibitory protein (NAIP) genes, cold PCR-SSCP and PCR-restriction site assay were carried out. Case 1 had deletions of the exons 7 and 8, and case 2 had exon 7 only on the telomeric SMN gene. Both cases were found to be normal on NAIP gene. These results were the same for both CVS and archival biopsied specimens. In both cases, the fetuses were, therefore, predicted to be at very high risk of being affected and the pregnancy were terminated. These data clearly demonstrate that archival slide and paraffin-embedded tissues can be a valuable source of DNA when the prenatal genetic diagnosis is needed in case any source for genetic analysis is not readily available due to previous death of the fetus or neonate.
Kim, Soo Young;Lee, Soon Joo;Kim, Mi Jeong;Song, Eun Song;Choi, Young Youn
Clinical and Experimental Pediatrics
/
v.50
no.7
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pp.636-642
/
2007
Purpose : Fluconazole prophylaxis for very low birth weight (VLBW) infants has been shown to reduce invasive fungal infection and its mortality. This study aims to evaluate the effect of fluconazole prophylaxis in VLBW infants on the incidence and mortality of fungal infection. Methods : VLBW infants with endotracheal intubation and central vascular access admitted to the Neonatal Intensive Care Unit (NICU) at Chonnam University Hospital were enrolled. Twenty eight infants of 7-month baseline period from January to July 2005 ('non-fluconazole group') were compared with 29 infants of a 7-month fluconazole period from January to July 2006 ('fluconazole group'). Results : Gestational age, birth weight, sex, mode of delivery, frequency of twin pregnancy, chorioamnionitis, antenatal steroid and rupture of membranes were similar between the fluconazole and non-fluconazole groups. The rate of extremely low birth weight (ELBW) infants, frequency and duration of prophylactic antibiotics, total parenteral nutrition and umbilical catheters, duration of intralipid, mechanical ventilation and nasal continuous positive airway pressure (CPAP) were also not significant. However, frequency of percutaneous central venous catheterization (PCVC) and intralipid administration, and duration of PCVC were significant between the two groups. The overall incidence and mortality of fungal infection were not different between the two groups. Although the Malassezia infection was increased in the fluconazole group (P<0.05), candida was significantly decreased compared to the non-fluconazole group (P<0.05). Conclusion : Fluconazole prophylaxis in high risk VLBW infants decreased the candida infection significantly. Antifungal prophylaxis is recommended in terms of cost effectiveness, but further study is needed to clarify the reason for the increase of Malassezia infection.
Gestational diabetes mellitus (GDM) is defined as glucose intolerance discovered or onset during pregnancy and attention is needed because of increased risk of perinatal morbidties and higher incidence of diabetes afterward. This study was performed to identify dietary factors associated with the development of gestational diabetes mellitus (GDM). Developed food frequency questionnaire containing 192 food items were used to assess nutritional status of 246 control subjects and 104 GDM subjects. Food habits of subjects were examined in the questionnaire. The more irregularity and less variety of meal were found in GDM group compared to control group and GDM group tended to eat rapidly and do not like vegetables and greasy foods. Total score of food habits in GDM was lower than control group, which suggests that GDM group have undesirable food habits. Mean daily energy and carbohydrate intakes of GDM group were higher than those of control group, and percent energy from protein was significantly higher in control. Nutrient density of protein, calcium, phosphorus and vitamin BI of GDM group was significantly lower than those of control group. Therefore dietary quality of GDM group was lower than that of control group. Odds ratio for GDM was high when energy and carbohydrate intakes were high. And when the intakes of rice, noodle, shiruduk, hamburger, boiled egg, steamed pork shank were high, the odds ratio for GDM was high. These results indicate that the amount and frequencies of several foods and dish items were related with the occurrence of GDM subjects. On the whole, GDM subjects consumed more cereals and less vegetables and less legumes. From these results, pregnant women with GDM tended to have unhealthy food habits, and carbohydrate intake was important dietary factors on the onset of GDM.
Purpose: The purpose of this study was to evaluate the differences according to the hospitals of antenatal care in premature infants. Methods: We retrospectively reviewed the medical records of premature infants with gestational ages <37 weeks and very low birth weights who were admitted immediately after birth to the neonatal intensive care unit (NICU) at the Dongguk University Ilsan Hospital between March 2007 and February 2009. The hospitals of antenatal care were divided into two levels (primary antenatal care hospital: hospitals with less than a level 2 NICU, secondary antenatal care hospital: hospitals with a level 3 NICU) based on the level of NICU in hospitals. In addition, total infants were divided into two groups (Immediate group: infants born within 24 hours of maternal admission, Delayed group: infants born after 24 hours of maternal admission). The differences between maternal and neonatal variables in each groups were studied. Results: Neonates in secondary antenatal care hospitals comprised 11.0% of the study neonates (10 of 91). We compared with two groups (primary antenatal care hospital and secondary antenatal care hospital), but there were no differences in all subjects. However, the 1 minute Apgar score ($\leq3$) was lower in the immediate group than the delayed group. Conclusion: Shorter duration of maternal admission to delivery was associated with a lower 1 minute Apgar score of neonates. These findings suggest that if maintenance of pregnancy is difficult when high-risk gravidas are transferred, clinicians must prepare for emergencies of neonates.
This study examined 191 pregnant women before delivery in an obstetrics and gynecology clinic in North Gyeongsang Province from May to September 2016 by using a questionnaire after obtaining informed consent for voluntary participation in the study. The study was performed to investigate the association of depression with sociodemographic characteristics, pregnancy-related characteristics, social support, sleep quality and Oral Health Impact Profile (OHIP) in pregnant women. The prevalence of depression among the pregnant women was 25.1% in the healthy group and 74.9% in the depression group. The depression level was significantly higher in women in the depression group who were unsatisfied with their marriage life, had no occupation, had lower social support, had poor sleep quality and had higher OHIP scores. The results of the logistic regression analysis indicated that, the risk ratio for more severe depression was significantly higher in the group with no experience of miscarriage and induced childbirth than in the group with childbirth experience. Conversely, the risk ratio for more severe depression was significantly lower in the group with high social support than in the group with low social support. Depression in the respondents significantly positively correlated with sleep quality and OHIP score but significantly negatively correlated with social support. The multiple regression analysis revealed that the depression level was significantly higher by 22.3% among pregnant women with lower marital satisfaction, no childbirth experience, lower social support and higher OHIP scores. In summary, depression was related to marital satisfaction, childbirth experience, social support, and OHIP score, among others, in pregnant women in this study. Therefore, further investigation is warranted to construct programs and measures that will help build positive thinking by designing and verifying a three-dimensional study model by taking into consideration various variables to reduce the incidence of depression in pregnant women.
High energy photon beams from medical linear accelerators produce large scattered radiation by various components of the treatment head, collimator and walls or objects in the treatment room including the patient. These scattered radiation do not provide therapeutic dose and are considered a hazard from the radiation safety perspective. Scattered dose of therapeutic high energy radiation beams are contributed significant unwanted dose to the patient. ICRP take the position that a dose of 500mGy may cause abortion at any stage of pregnancy and that radiation detriment to the fetus includes risk of mental retardation with a possible threshold in the dose response relationship around 100 mGy for the gestational period. The ICRP principle of as low as reasonably achievable (ALARA) was recommended for protection of occupation upon the linear no-threshold dose response hypothesis for cancer induction. We suggest this ALARA principle be applied to the fetus and testicle in therapeutic treatment. Radiation dose outside a photon treatment filed is mostly due to scattered photons. This scattered dose is a function of the distance from the beam edge, treatment geometry, primary photon energy, and depth in the patient. The need for effective shielding of the fetus and testicle is reinforced when young patients ate treated with external beam radiation therapy and then shielding designed to reduce the scattered photon dose to normal organs have to considered. Irradiation was performed in phantom using high energy photon beams produced by a Varian 2100C/D medical linear accelerator (Varian Oncology Systems, Palo Alto, CA) located at the Yonsei Cancer Center. The composite phantom used was comprised of a commercially available anthropomorphic Rando phantom (Phantom Laboratory Inc., Salem, YN) and a rectangular solid polystyrene phantom of dimensions $30cm{\times}30cm{\times}20cm$. the anthropomorphic Rando phantom represents an average man made from tissue equivalent materials that is transected into transverse 36 slices of 2.5cm thickness. Photon dose was measured using a Capintec PR-06C ionization chamber with Capintec 192 electrometer (Capintec Inc., Ramsey, NJ), TLD( VICTOREEN 5000. LiF) and film dosimetry V-Omat, Kodak). In case of fetus, the dosimeter was placed at a depth of loom in this phantom at 100cm source to axis distance and located centrally 15cm from the inferior edge of the $30cm{\times}30cm^2$ x-ray beam irradiating the Rando phantom chest wall. A acryl bridge of size $40cm{\times}40cm^2$ and a clear space of about 20 cm was fabricated and placed on top of the rectangular polystyrene phantom representing the abdomen of the patient. The leaf pot for testicle shielding was made as various shape, sizes, thickness and supporting stand. The scattered photon with and without shielding were measured at the representative position of the fetus and testicle. Measurement of radiation scattered dose outside fields and critical organs, like fetus position and testicle region, from chest or pelvic irradiation by large fie]d of high energy radiation beam was performed using an ionization chamber and film dosimetry. The scattered doses outside field were measured 5 - 10% of maximum doses in fields and exponentially decrease from field margins. The scattered photon dose received the fetus and testicle from thorax field irradiation was measured about 1 mGy/Gy of photon treatment dose. Shielding construction to reduce this scattered dose was investigated using lead sheet and blocks. Lead pot shield for testicle reduced the scatter dose under 10 mGy when photon beam of 60 Gy was irradiated in abdomen region. The scattered photon dose is reduced when the lead shield was used while the no significant reduction of scattered photon dose was observed and 2-3 mm lead sheets refuted the skin dose under 80% and almost electron contamination. The results indicate that it was possible to improve shielding to reduce scattered photon for fetus and testicle when a young patients were treated with a high energy photon beam.
Kim, Min-Jee;Lee, Hyoung-Song;Choi, Hye-Won;Lim, Chun-Kyu;Cho, Jae-Won;Kim, Jin-Young;Song, In-Ok;Kang, Inn-Soo
Clinical and Experimental Reproductive Medicine
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v.35
no.2
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pp.99-110
/
2008
Objectives: Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples carrying genetic conditions that may affect their offspring. Osteogenesis imperfecta (OI) is an autosomal dominant disorder of connective tissue characterized by bone fragility and low bone mass. At least 95% of cases are caused by dominant mutations in the COL1A1 or COL1A2. In this study, we report on our experience clinical outcomes with 5 PGD cycles for OI in two couples. Methods: Before clinical PGD, we assessed the amplification rate and allele drop-out (ADO) rate of alkaline lysis and nested PCR protocol using heterozygous patient's single lymphocytes in the pre-clinical diagnostic tests for OI. We performed 5 cycles of PGD for OI by nested PCR for the causative mutation loci, COL1A1 c.2452G>A and c.3226G>A, in case 1 and case 2, respectively. The PCR products were analyzed by agarose gel electrophoresis, restriction fragment length polymorphism (RFLP) analysis with HaeIII restriction enzyme in the case 1 and direct DNA sequencing. Results: We confirmed the causative mutation loci, COL1A1 c.2452G>A in case 1 and c.3226G>A in case 2. In the pre-clinical tests, the amplification rate was 94.2% and ADO rate was 22.5% in case 1, while 98.1% and 1.9% in case 2, respectively. In case 1, a total of 34 embryos were analyzed and 31 embryos (91.2%) were successfully diagnosed in 3 PGD cycles. Eight out of 19 embryos diagnosed as unaffected embryos were transferred in all 3 cycles, and in the third cycle, pregnancy was achieved and a healthy baby was delivered without any complications in July, 2005. In case 2, all 19 embryos (100.0%) were successfully diagnosed and 4 out of 11 unaffected embryos were transferred in 2 cycles. Pregnancy was achieved in the second cycle and the healthy baby was delivered in March, 2008. The causative locus was confirmed as a normal by amniocentesis and postnatal diagnosis. Conclusions: To our knowledge, these two cases are the first successful PGD for OI in Korea. Our experience provides a further demonstration that PGD is a reliable and effective clinical techniques and a useful option for many couples with a high risk of transmitting a genetic disease.
Objectives: The aim of this study was to evaluate the usefulness of Anti-mullerian hormone (AMH) as a predictive marker for ovarian response and cycle outcome in IVF cycles. Methods: From Jan., to Aug., 2007, 111 patients undergoing IVF/ICSI stimulated by short or antagonist protocol were selected. On cycle day 3, basal serum AMH level and FSH level were measured. The correlation between basal serum AMH or FSH, and COH outcome was analyzed and IVF outcome was compared according to the AMH levels. To determine the threshold value of AMH for poor- and hyper-response, ROC curve was analyzed. Results: Serum AMH showed higher correlation coefficient (r=0.792, p<0.001) with the number of retrieved mature oocyte than serum FSH (r=-0.477, p<0.001). According to ovarian response, FSH and AMH leves showed significant differences among poor, normal, and hyperresponder. For predicting poor (${\leq}2$ oocytes) and hyperresponse (${\geq}17$ oocyets), AMH cut-off values were 0.5 ng/ml (the sensitivity 88.9% and the specificity 89.5%) and 2.5 ng/ml (sensitivity 85.7%, specificity 87.0%), respectively. According to the AMH level, patients were divided into 3 groups: low (${\leq}0.60\;ng/ml$), normal ($0.60{\sim}2.60\;ng/ml$), and high AMH (${\geq}2.60\;ng/ml$). The number of retrieved mature oocytes was significantly higher ($2.7{\pm}2.2$, $8.1{\pm}4.8$, $16.5{\pm}5.7$) and total gonadotropin dose was lower ($3530.5{\pm}1251.0$, $2957.1{\pm}1057.6$, and $2219.2{\pm}751.9\;IU$) in high AMH group (p<0.001). There was no significant difference in fertilization rates and pregnancy rates (23.8%, 34.0%, 37.5%) among the groups. Conclusions: Basal serum AMH level correlated better with the number of retrieved mature oocytes than FSH level, suggesting its usefulness for predicting ovarian response. However, IVF outcome was not significantly different according to the AMH levels. Serum AMH level presented good cut-off value for poor- or hyper-responders, therefore it could be useful in prediction of cycle cancellation, gonadotropin dose, and OHSS risk in IVF cycles.
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