Case of Mental Retardation Associated with Aplasia Cutis Congenita and Skull Defect

Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by skin defects involving the epidermis, dermis, subcutaneous tissue, bone, and sometimes dura. It commonly affects the scalp in approximately 70% of cases, but the neck, trunk, and the extremities can also be affected. ACC can occur either as an isolated condition or associated with other anomalies and congenital syndromes, and it can be acquired either genetically or sporadically. Morbidity and mortality are associated with the defects of skull bone, dura, and other multiple anomalies. We herein report the case of a female infant, with a large scalp defect accompanied by a skull defect noted at birth, who developed mental retardation in the preschool years.

Case of Mental Retardation Associated with Aplasia Cutis Congenita and Skull Defect

Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by skin defects involving the epidermis, dermis, subcutaneous tissue, bone, and sometimes dura. It commonly affects the scalp in approximately 70% of cases, but the neck, trunk, and the extremities can also be affected. ACC can occur either as an isolated condition or associated with other anomalies and congenital syndromes, and it can be acquired either genetically or sporadically. Morbidity and mortality are associated with the defects of skull bone, dura, and other multiple anomalies. We herein report the case of a female infant, with a large scalp defect accompanied by a skull defect noted at birth, who developed mental retardation in the preschool years.

Adrenal incidentaloma: a case of asymptomatic pheochromocytoma / 고신대학교의과대학학술지

An incidentaloma is a tumor found incidentally without clinical symptoms or suspicion; the lesion may be adrenal, pituitary, or thyroidal. We report the case of an asymptomatic individual with preoperatively undiagnosed pheochromocytoma (size: 4.86 cm) that was revealed using elective nonadrenal surgical procedures. The patient demonstrated peri- and post-operative hypertensive crisis and tachycardia. Three days after the dramatic onset of symptoms, the patient expired due to pulmonary edema, multiple organ failure, and terminal sepsis, despite administration of extracorporeal membrane oxygenation-assisted cardiopulmonary resuscitation. A left medial kidney mass obtained at autopsy confirmed pheochromocytoma.

Use of sugammadex in lung cancer patients undergoing video-assisted thoracoscopic lobectomy / 대한마취과학회지

BACKGROUND: This study aimed to retrospectively evaluate the use of sugammadex in patients undergoing video-assisted thoracoscopic surgery (VATS) lobectomy. METHODS: Data were obtained from medical record review of patients who underwent VATS lobectomy from January 2013 to November 2014. Fifty patients were divided into two groups: the sugammadex group (group S, n = 19) was administered sugammadex 2 mg/kg, while the pyridostigmine group (group P, n = 31) received pyridostigmine 20 mg with glycopyrrolate 0.2 mg or atropine 0.5 mg. The primary endpoint measure was the overall incidence of postoperative pulmonary complications including prolonged air leak, pneumonia, and atelectasis. The secondary endpoint measures were the length of postoperative hospital stay and duration of chest tube insertion. RESULTS: The overall incidence of postoperative pulmonary complications in patients in group S was significantly lower compared with that of group P (5 [26.3%] vs. 17 [54.8%]; P = 0.049). Also, the durations of chest tube insertion (5.0 [4.0–7.0] vs. 7.0 [6.0–8.0] days; P = 0.014) and postoperative hospital stay (8.0 [8.0–10.0] vs. 10.0 [9.0–11.0] days; P = 0.019) were shorter in group S compared with group P. Administration of sugammadex was associated reduced with postoperative pulmonary complications (OR: 0.22; 95% CI: 0.05–0.87; P = 0.031). CONCLUSIONS: The use of sugammadex, compared with pyridostigmine, showed a significantly reduced overall incidence of postoperative pulmonary complications and decreased duration of chest tube use and postoperative hospital stay in patients undergoing VATS lobectomy, suggesting that sugammadex might be helpful in improving clinical outcomes in such patients.

Multiple exposures of sevoflurane in a patient with hepatic damage from crushing injuries: A case report

Sevoflurane, which has low solubility in blood, facilitates rapid induction and recovery. Sevoflurane is metabolized to hexafluoroisopropanol by cytochrome P450. Hexafluoroisopropanol has significantly less protein binding capability, does not accumulate and rapidly undergoes phase II biotransformation to form Hexafluoroisopropanol glucuronide, which is mostly excreted in the urine within 12 hours. Thus, the hepatotoxic potential of sevoflurane has been considered very low. However, there are many reports about hepatic toxicity after sevoflurane anesthesia. We report a case of a 21-year-old male who had high levels of aspartate transaminase and alanine transaminase with crushing injuries and had low hepatic dysfunction after 29 sevoflurane anesthesia treatments within three months.

Superficial cervicovaginal myofibroblastoma: a report of two cases and literature review / 대한산부인과내시경학회지

Superficial cervicovaginal myofibroblastoma (SCVM) is extremely rare mesenchymal tumor arising low genital tract. SCVM is characterized by asymptomatic polypoid or nodular mass within the lamina propria. It is difficult to distinguish SCVM from other genital mesenchymal tumors because of similar morphologic features, however SCVM has distinctive histological and immunohistochemical profiles. SCVM is considered benign tumor which can be treated with simple excision and shows rare recurrence. We experienced two cases of SCVM which was treated with simple excision. We present these cases, along with a review of the relevant literatures.

Photodynamic therapy using topically applied 5-aminolevulinic acid for treatment of cervical cancer / 대한산부인과학회지

OBJECTIVE: The purpose of this study was to investigate the treatment effects of a topical application of 5-aminolevulinic acid (5-ALA) for photodynamic therapy (PDT) to treat cervical cancer. METHODS: We first investigated the effects of 5-ALA cream according to application time. And to find the effective 5-ALA concentration and the distribution times in vivo, 20% 5-ALA cream was topically applied to the tumor of the nude mouse. We then observed the distribution of 5-ALA via fluorescence measurement with using a 532 nm diode laser. 25 nude mice were divided into Control, ALA, Laser, and PDT group. To evaluate the PDT effect at cancer lesion, we applied 20% 5-ALA cream to the tumor by the same method, and the PDT was done by using a 632 nm diode laser at the time of the peak level of fluorescence. We checked the changes of the volume of cancer for 30 days, and then biopsy was done. RESULTS: The effective post-irradiation time after topical ALA application was 9 hours. In the PDT group, 40% (4/10) of the mice showed decreased tumor size. CONCLUSION: The maximum PpIX fluorescence at 9 hours after local applicationof 5-ALA cream was checked. And PDT group did not show any statistical difference than control group in the growth of tumor size than control group. However responding cases (4/10) of PDT group showed the meaningful decrease of tumor size than control group (P<0.05).

A case of CHARGE syndrome diagnosed after delivery: A case report / 대한산부인과학회지

The acronym CHARGE (Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genital hypoplasia, and Ear abnormalities) was coined by Pagon et al. in 1981. The prevalence of CHARGE syndrome was estimated to be approximately 1/10,000 - 1/15,000. The cause of the CHARGE syndrome remains unknown but several observations support the role of genetic factors and a significantly higher paternal age at conception and several chromosomal abnormalities. The clinical spectrum of this multiple congenital anomaly and mental retardation is broad and variable, therefore the treatment of the CHARGE syndrome was not definitive and conservative. We hereby report, with reviewing other literature, a case of CHARGE syndrome diagnosed after delivery.

The efficacy and safety of the combined preparation of Black Cohosh and St. John's wort in menopausal women / 대한산부인과학회지

OBJECTIVE: The aim of this study was to assess the efficacy and safety of the combined preparation of black cohosh and St. John's wort (GYNO-Plus(R)) in post menopausal women with symptoms. METHODS: A total number of 60 postmenopausal women with climacteric symptoms was allocated to take GYNO-Plus(R) for 3 months. And the change of the Kupperman menopausal index (KI), serum FSH and E2 level, bone densitometry (BMD), mammographic density, liver function test (LFT) and adverse effects were assessed. RESULTS: There was statistical difference in the decline of KI after 3 months treatment. But, there were no statistical differences in the change of serum FSH and E2 level, BMD, mammographic density, and LFT. There were nine adverse events in study, but two cases were directly related to the drug and they were resolved without any sequela. CONCLUSION: This study suggests that the combined preparation of black cohosh and St. John's wort is a safe, effective alternative treatment option for patients in whom hormone replacement therapy is either refused or contraindicated.

Umbilical artery blood gas analysis and its relationship with the placenta to birth weight ratios at birth in preeclampsia and small for gestational age / 대한산부인과학회지

OBJECTIVE: The purpose of this study was to compare the umbilical artery blood gas analysis and assess the relationship between fetal oxygenation and placenta to birth weight ratios in preeclampsia and small for gestational age. METHODS: We compared the results of umbilical artery blood gas analysis and placenta to birth weight ratio in group of preeclampsia (N=28), group of small for gestational age (N=15), group of large for gestational age (N=15), and controls (N=24). And we also divided all of them into 3 groups by placenta to birth weight ratio at birth, 0.25 (N=18). We compared umbilical artery gas analysis in each groups. RESULTS: The placenta to birth weight ratio in PE was significantly lower than control group (p<0.05). Umbilical artery pO2 and O2 saturations in each group of preeclampsia and small for gestational age were significantly lower than group of large for gestational age and controls (p<0.05). But we could not find any differences in other umbilical artery blood gas analysis (pH, pCO2, HCO3-). Umbilical artery pO2 and O2 saturations of higher placenta to birth weight ratio were stepwise lower than those of lower placenta to birth weight ratio but, pCO2 of higher placenta to birth weight ratio was stepwise lower than those of lower placenta to birth weight ratio. But there was no significant difference. CONCLUSION: Our data suggested that fetal oxygenation is significant determinant of fetal growth from small for gestational age and preeclampsia. And it may be related to placental implantaton and growth.

Dialysis in a Patient with Hemophilia / 대한신장학회잡지

Hemophilia is a rare inherited bleeding disorder. The most common manifestation of hemophilia is hemorrage and it can occur at any site of the body. Chronic renal failure results from a variety of systemic disorders and its incidence is now increasing. Until now, chronic renal failure in hemophilia was rare and there was no reported case of hemodialysis or peritoneal dialysis in hemophilia patient in korea. The modality of dialysis for hemophiliac end stage renal patients is a difficult choice because hemophiliac patients always have the risk of bleeding. We have experienced one case of end stage renal disease developed in a patient with hemophilia A. He first got continuous ambulatory peritoneal dialysis for 2 years and then switched to hemodialysis because of recurrent peritoneal infection. While getting peritoneal dialysis, there was no intraperitoneal or retroperitoneal hemorrhage episode. Now he gets hemodialysis through Perm catheter. During hemodialysis, he has no bleeding complication without any factor VIII supplement.

Limited Effect of CpG ODN in Preventing Type 1 Diabetes in NOD Mice

Type 1 diabetes is considered as Th1 cell mediated autoimmune disease and the suppression of Th1 cells or the activation of Th2 cells has been regarded as a plausible immunologic intervention for the prevention of type 1 diabetogenesis in a rodent model. CpG ODN is an immunostimulatory sequence primarily present in bacterial DNA, viral DNA and BCG. CpG ODN is conventionally classified as a Th1 cell activator, which has been clinically applied to cancer, allergy and infectious disease. Recently, there was a promising report of that CpG ODN administration suppressed the development of type 1 diabetes in NOD mice by inducing Th2 cell mediated cytokine. However, the antidiabetogenic effect of CpG ODN on NOD mice is controversial. Thus, two studies were serially undertaken with various kinds of CpG motif to find a more optimal sequence and administration method. In the first study, CpG ODN was vaccinated four times and pancreatic inflammation and the quantity of serum insulin subsequently evaluated. In the second study, the amounts of IFN gamma and IL-4 in sera were measured as representative cytokines of Th1 and Th2 cells, respectively. As a result, vaccination or continuous injection of CpG ODN failed to show a preventive effect on type 1 diabetogenesis in NOD mice. Structural differences of CpG ODN also had no affect on the result. CpG ODN also consistently showed affect on the pancreatic pathology. The productions of IFN gamma and IL-4 were detected only in the K and D type CpG ODN administration groups. Comparison of the two cytokines leads to the conclusion that CpG ODN generated a Th1-weighted response in both study groups. It was assumed that CpG ODN failed to produce Th2-weighted cytokine milieu, which can overcome the genetically determined phenotype of NOD mice. Given these results, it was concluded that the immunotherapeutic application of CpG ODN on Type 1 diabetes had clear limitations.

A Case of Fetal Cardiac Tumor Diagnosed by Ultrasonography / 대한산부인과학회지

Primary tumors of the heart are uncommon in fetus and neonate, and most tumors are histologically benign. They remain clinically unimportant and regress with age, but they may cause mechanical obstruction and induce even life-threatening symptoms. Hemodynamic disturbance are correlated with the size and location of the tumors. Murmurs, arrhythmia, cyanosis, respiratory distress, and heart failure are main presenting signs of cardiac tumors in perinatal periods. The most common histological form of cardiac tumors in perinatal periods is rhabdomyoma. Rhabdomyomas are associated with tuberous sclerosis in 50% of cases. The widespread use of echocardiography and other new imaging techniques has contributed significantly to eariler diagnosis, treatment, and thus improving survival. We have experienced a case of fetal cardiac tumor which were detected by prenatal ultrasonographic evaluation in 21 weeks and 4 days of gestation. After termination, autopsy was performed and rhabdomyoma was diagnosed, but not accompanied tuberous sclerosis.

A Case of Poland Syndrome Diagnosed by Prenatal Ultrasonography / 대한산부인과학회지

Poland syndrome is a rare congenital disorder. It is characterized by unilateral chest wall hypoplasia, ipsilateral arm and hand abnormalities, and a variety of associated anomalies. It is suggested that the deformity has a sporadic and nongenetic nature. The main pathogenetic mechanism is the interruption of embryological blood supply to the subclavian artery with hypoplasia at the end of the 6th week of gestation. Most frequently involved muscle is the sternocostal portion of the pectoralis major muscle, with hypoplasia of breast and nipple, rib anomalies and unilateral brachysyndactyly. We experienced an unusual case of Poland syndrome which was detected by prenatally ultrasonographic evaluation at 36 gestational weeks. So, we report this case with a brief review of the literature.

Expression of Toll-like Receptors on the Macrophages Activated by Bacterial Superantigens

BACKGROUND: Staphylococcal enterotoxin B (SEB) as a prototype superantigen is known to play a pivotal role in toxic shock syndrome and severe sepsis. However, the precise mechanism initiating the activation of innate effector cells by SEB is unclear. Recently, Toll-like receptors (TLRs), the sensor of pathogen associated molecular pattern (PAMP), have been reported to be expressed abundantly in monocytic lineage-cells. The purpose of this study is to investigate whether TLRs are involved in the SEB-induced immune cell activation and to prove the differential TLRs expression in response to SEB and/or lipopolysaccharide (LPS). MATERIALS AND METHODS: SEB was purified by dye ligand affinity chromatography. The mRNA expression of TLR1-9 in human peripheral blood mononuclear cells (PBMC) and human monocyte- like THP-1 cell line stimulated by SEB and/or LPS was detected by RT-PCR. RESULTS: The treatment of PBMC with SEB elicited significant changes in the expression of several TLRs. Interestingly, the mRNAs of TLR1 and TLR5 were clearly up-regulated in PBMC, whereas mRNA of TLR4 was down-regulated in the very early period of stimulation within 1-2 hours, and subsequently up-regulated 3 hours later after the stimulation. The up-regulation of mRNA of TLR4 was detected in PBMC stimulated by LPS. The up-regulation was more prominent in the cells exposed concomitantly to SEB and LPS. The mRNA expression pattern of TLR4 in THP-1 cell line stimulated by SEB or LPS was comparable to those of PBMC. CONCLUSION: This study indicates that SEB triggers inflammatory signals on macrophages and PBMC by engaging TLRs, particularly TLR4. The combination of LPS and SEB synergistically modulates TLR4 signaling.

Expression of Toll-like Receptors on the Macrophages Activated by Bacterial Superantigens

BACKGROUND: Staphylococcal enterotoxin B (SEB) as a prototype superantigen is known to play a pivotal role in toxic shock syndrome and severe sepsis. However, the precise mechanism initiating the activation of innate effector cells by SEB is unclear. Recently, Toll-like receptors (TLRs), the sensor of pathogen associated molecular pattern (PAMP), have been reported to be expressed abundantly in monocytic lineage-cells. The purpose of this study is to investigate whether TLRs are involved in the SEB-induced immune cell activation and to prove the differential TLRs expression in response to SEB and/or lipopolysaccharide (LPS). MATERIALS AND METHODS: SEB was purified by dye ligand affinity chromatography. The mRNA expression of TLR1-9 in human peripheral blood mononuclear cells (PBMC) and human monocyte- like THP-1 cell line stimulated by SEB and/or LPS was detected by RT-PCR. RESULTS: The treatment of PBMC with SEB elicited significant changes in the expression of several TLRs. Interestingly, the mRNAs of TLR1 and TLR5 were clearly up-regulated in PBMC, whereas mRNA of TLR4 was down-regulated in the very early period of stimulation within 1-2 hours, and subsequently up-regulated 3 hours later after the stimulation. The up-regulation of mRNA of TLR4 was detected in PBMC stimulated by LPS. The up-regulation was more prominent in the cells exposed concomitantly to SEB and LPS. The mRNA expression pattern of TLR4 in THP-1 cell line stimulated by SEB or LPS was comparable to those of PBMC. CONCLUSION: This study indicates that SEB triggers inflammatory signals on macrophages and PBMC by engaging TLRs, particularly TLR4. The combination of LPS and SEB synergistically modulates TLR4 signaling.

A case of partial trisomy 22 due to paternal 11;22 translocation, t(11;22)(q25;q13.1) / 대한산부인과학회잡지

Trisomy 22 is a frequent finding in spontaneous abortion. However, survival to term is tenuous. So far there have been about 85 cases of trisomy 22. Most of all cases, trisomy 22 was result of 3:1 meiotic segregation in the maternal 11;22 translocation carrier. These patients have a supernumerary, abnormal chromosome 22 [der(22)], in their chromosome constitution: 47,XX(or XY),+der(22),t(11q;22q). Affected children have a distinct phenotype with multiple anomalies and severe mental retardation. We now report a viable case of 47,XX,+der(22)t(11;22)(q25;q13.1) resulting from 3:1 segregation in paternal translocation.

A case of granulosa cell tumor in pregnancy / 대한산부인과학회잡지

Granulosa cell tumors of the ovary are rare, and account for 2 to 3% of ovarian tumors. Granulosa cell tumors are discovered often in perimenopausal or postmenopausal women but 10 to 26% are found in the reproductive age group. The tumors associated with pregnancy are infrequent. In this study, we present a case of granulosa cell tumor of left ovary at pregnancy.

Characterization of Gene Expression Pattern in Human Astrocytes using DDRT - PCR Method

No abstract available.

A Case of Acardiac Fetus in a Triplet Pregnancy / 대한산부인과학회잡지

Acardiac fetus in triplet pregnancy is a very rare, fatal congenital anomaly that had not been reported in Korea. It only occurs in multiple gestations associated with placental vascular anastomoses between the affected fetus and its co-twin. The major complications associated with acardiac fetus in triplet pregnancy are congestive heart failure in normal pumping fetus, maternal polyhydramnios, preterm labor, intrauterine fetal death, etc, and perinatal diagnosis can be made with the perinatal ultrasonographic examination. We report a case of acardiac fetus in a spontaneous triplet pregnancy at 23 weeks of gestational age with a brief review of the literature.