The prenatal diagnosis of spina bifida includes the combined use of maternal serum alpha-fetoprotein (MSAFP) screening and fetal sonography. On ultrasonogram, spina bifida is characterizd by visualization of the spinal defect and associated cranial abnomalities: the Lemon sign, the Banana sign, ventriculomegaly, small biparietal diameter, and obliteration of the cisterna magna. We should now be able to rely on ultrasound as the main technique for diagnosis of spina bifida when MSAFP is elevated. Recently, we have experienced three cases of spina bifida diagnosed with meningomyelocele, lemon sign, banana sign and ventriculomegaly on ultrasonogram at respectively 18+3, 18, and 18+6 weeks of gestation. We present these cases with a brief review of literatures.
alpha-Fetoproteins ; Cisterna Magna ; Diagnosis ; Mass Screening ; Meningomyelocele ; Musa ; Pregnancy ; Prenatal Diagnosis ; Spinal Dysraphism* ; Ultrasonography*

Osteogenesis imperfecta is a heterogeneous group of disorders that are characterized by connective tissue defects resulting in bone fragility, blue sclera, impaired hearing, defective dentition, and hyperlaxibility of the joints. The overall incidence of osteogenesis imperfecta is estimated at 1/25,000. We recently experienced a case of osteogenesis imperfecta type II diagnosed in uterus by ultrasonogram and confirmed after termination of pregnancy and autopsy. We report a case here with a brief review of the literature.
Autopsy ; Connective Tissue ; Dentition ; Diagnosis* ; Hearing ; Incidence ; Joints ; Osteogenesis Imperfecta* ; Osteogenesis* ; Pregnancy ; Sclera ; Ultrasonography* ; Uterus*

Tenofovir is the representative treatment for human immunodeficiency virus and hepatitis B virus infection. This study was conducted to assess the pharmacokinetics (PKs) and safety characteristics after a single administration of tenofovir disoproxil phosphate compared to tenofovir disoproxil fumarate in healthy male subjects. An open-label, randomized, single administration, two-treatment, two-sequence crossover study was conducted in 37 healthy volunteers. Serial blood samples were collected up to 72 hours. Non-compartmental analysis was used to calculate the PK parameters. The 90% confidence intervals (90% CIs) of the geometric mean ratio (GMR) were calculated for comparing tenofovir disoproxil phosphate to tenofovir disoproxil fumarate. Safety assessments were performed including clinical laboratory tests, adverse events, etc. during the study. The GMR and 90% CIs were 1.0514 (0.9527–1.1603) for C max and 1.0375 (0.9516–1.1311) for AUC last , respectively, and both fell within the conventional bioequivalence range of 0.8–1.25. Both tenofovir salt forms were tolerable. This study demonstrated that tenofovir disoproxil phosphate (292 mg) was bioequivalent to tenofovir disoproxil fumarate (300 mg).

In light of the shift toward patient-centric clinical trials, a measure of simplifying blood collection process and minimizing the volume of blood samples is on the rise. Volumetric absorptive microsampling (VAMS) is a microsampling device developed for blood sampling in non-hospital settings, which enables accurate hematocrit-independent collection of 10 or 20 µL of whole blood with a simple finger prick. In this study, liquid chromatography (LC)-tandem mass spectrometry workflow for quantification of rosuvastatin after VAMS sampling was developed and validated. The VAMS sample was stabilized by matrix drying and the optimum LC conditions and extraction methods were used to reach adequate sensitivity with lower limit of quantification verified at 1 ng/mL in 10 µL of blood. The bioanalytical method to quantify rosuvastatin from 1 to 100 ng/mL in VAMS sample was qualified by specificity, carryover, linearity, within-run and between-run reproducibility and stability. Inaccuracy was less than ± 6% and imprecision was less than 10% after analyzing the samples on 5 different days at all concentration levels. In addition, the feasibility of delivery to the analytical laboratory after home sampling during the guaranteed stability period of 10 days at room temperature was confirmed by evaluating concentration changes after VAMS sampling without adding pH buffer. Our results suggest that VAMS sampling did not have an effect on the stability of rosuvastatin, and it is a viable option for simple and accurate blood collection at home.

Acetylsalicylic acid (ASA) is one of the most commonly used medications in global market, with a risk of intoxication in certain patients. However, monitoring blood drug concentration often requires frequent hospital visits; hence there is an unmet need to increase patientcentricity by conducting blood sampling at home. Volumetric absorptive microsampling (VAMS) is a device that allows collection of homogenous and accurate volume of blood without venipuncture, and can be utilized by patients who are not in hospital settings; but because ASA is prone to hydrolysis and stabilizing reagents cannot be added to VAMS samples, a way to improve sample stability must be developed. The objective of this study was to identify the cause of instability with ASA samples collected by VAMS, and to evaluate ways to improve sample stability. A liquid chromatography with tandem mass spectrometry (LC-MS/MS) was used for analysis of ASA concentration in whole blood. Samples collected with VAMS were kept under different drying conditions (desiccator, pressurized, nitrogen gas and household vacuum sealer) and were compared to the control samples collected by conventional venous sampling. The recovery of ASA was about 31% of the control when VAMS sample was dried at room temperature, whereas VAMS samples under humidity controlled conditions showed more than 85% of recovery. Our results suggest that adequate level of humidity control was critical to ensure sample stability of ASA, and this humidity control could also be achieved at home using household vacuum sealer, thus enabling patient-centric clinical trials to be conducted.

A 29-year-old man was admitted to hospital with fever, myalgia, and sore throat. Initial laboratory findings were compatible with acute hepatitis; he was positive for the serologic marker for acute hepatitis A. On the 3rd day of admission, in spite of normalization of body temperature and a reduction in serum liver enzyme levels, serum levels of creatinine phosphokinase had increased up to 16,949 U/L. The patient recovered with supportive therapy and was discharged on the 12th day. We report a case of acute hepatitis A complicated by rhabdomyolysis during hospitalization.
Acute Disease ; Adult ; Alanine Transaminase/blood ; Aspartate Aminotransferases/blood ; Creatine Kinase/blood ; Hepatitis A/complications/*diagnosis ; Hospitalization ; Humans ; Male ; Rhabdomyolysis/*diagnosis/etiology

OBJECTIVE: Neuromelanin loss of substantia nigra (SN) can be visualized as a T1 signal reduction on T1-weighted high-resolution imaging. We investigated whether volumetric analysis of T1 hyperintensity for SN could be used to differentiate between Parkinson's disease dementia (PDD), Alzheimer's disease (AD) and age-matched controls. MATERIALS AND METHODS: This retrospective study enrolled 10 patients with PDD, 18 patients with AD, and 13 age-matched healthy elderly controls. MR imaging was performed at 3 tesla. To measure the T1 hyperintense area of SN, we obtained an axial thin section high-resolution T1-weighted fast spin echo sequence. The volumes of interest for the T1 hyperintense SN were drawn onto heavily T1-weighted FSE sequences through midbrain level, using the MIPAV software. The measurement differences were tested using the Kruskal-Wallis test followed by a post hoc comparison. RESULTS: A comparison of the three groups showed significant differences in terms of volume of T1 hyperintensity (p < 0.001, Bonferroni corrected). The volume of T1 hyperintensity was significantly lower in PDD than in AD and normal controls (p < 0.005, Bonferroni corrected). However, the volume of T1 hyperintensity was not different between AD and normal controls (p = 0.136, Bonferroni corrected). CONCLUSION: The volumetric measurement of the T1 hyperintensity of SN can be an imaging marker for evaluating neuromelanin loss in neurodegenerative diseases and a differential in PDD and AD cases.
Aged ; Alzheimer Disease* ; Dementia* ; Humans ; Magnetic Resonance Imaging ; Mesencephalon ; Neurodegenerative Diseases ; Parkinson Disease* ; Parkinsonian Disorders ; Retrospective Studies ; Substantia Nigra*

Ectopic breast tissue may be seen along a diagonal line drawn from axilla to groin and it is rare with only a few reports in the world. There is a relatively frequent occurrence of ectopic breast tissue close to the breast or in the axilla, but the vulvar location is rare. We experienced a case of ectopic breast tissue in the vulva and reported it with brief review of literatures.
Axilla ; Breast* ; Groin ; Vulva*

Heterotopic pregnancy is a condition in which ectopic and intrauterine pregnancies coexist. The reported incidence varies widely from 1 in 1000 to 1 in 30000 pregnancies. Assisted reproductive technologies have led to an increase in the number of heterotopic pregnancies. Because heterotopic pregnancy is difficult to diagnose early and it has high morbidity and mortality rate, careful pelvic examination combined with transvaginal sonogram and serial beta-HCG determinations are important. We experienced a case of heterotopic pregnancy in a natural cycle diagnosed by ultrasonogram who continued intrauterine pregnancy successfully.
Gynecological Examination ; Incidence ; Mortality ; Pregnancy ; Pregnancy, Heterotopic* ; Reproductive Techniques, Assisted ; Ultrasonography*

Struma ovarii is a monodermal and highly specialized teratoma which is composed predominantly or entirely of thyroid tissue. It is rare tumor accounting for 2.7% of ovarian mature cystic teratoma. Most of the tumors are benign. Malignant change has been reported in approximately 5% of cases. We have experienced a case of struma ovarii with brief review of the literature.
Struma Ovarii* ; Teratoma ; Thyroid Gland