Chromosomal Microarray Analysis in Fetuses With Ultrasonographic Soft Markers: A Meta-Analysis of the Current Evidence

Background@#Ultrasonographic soft markers are normal variants, rather than fetal abnormalities, and guidelines recommend a detailed survey of fetal anatomy to determine the necessity of antenatal karyotyping. Anecdotal reports have described cases with ultrasonographic soft markers in which chromosomal microarray analysis (CMA) revealed pathogenic copy number variants (CNVs) despite normal results on conventional karyotyping, but CMA for ultrasonographic soft markers remains a matter of debate. In this systematic review, we evaluated the clinical significance of CMA for pregnancies with isolated ultrasonographic soft markers and a normal fetal karyotype. @*Methods@#An electronic search was conducted by an experienced librarian through the MEDLINE, Embase, and Cochrane CENTRAL databases. We reviewed 3,338 articles (3,325 identified by database searching and 13 by a hand search) about isolated ultrasonographic soft markers, and seven ultrasonographic markers (choroid plexus cysts, echogenic bowel, echogenic intracardiac focus, hypoplastic nasal bone, short femur [SF], single umbilical artery, and urinary tract dilatation) were included for this study. @*Results@#Seven eligible articles were included in the final review. Pathogenic or likely pathogenic CNVs were found in fetuses with isolated ultrasonographic soft markers and a normal karyotype. The overall prevalence of pathogenic or likely pathogenic CNVs was 2.0% (41 of 2,048). The diagnostic yield of CMA was highest in fetuses with isolated SF (9 of 225, 3.9%). @*Conclusion@#CMA could aid in risk assessment and pregnancy counseling in pregnancies where the fetus has isolated ultrasonographic soft markers along with a normal karyotype.

The Effect of Vanishing Twin on Firstand Second-Trimester Maternal Serum Markers and Nuchal Translucency: A Multicenter Prospective Cohort Study

Background@#The purpose of this study was to evaluate the effect of vanishing twin (VT) on maternal serum marker concentrations and nuchal translucency (NT). @*Methods@#This is a secondary analysis of a multicenter prospective cohort study in 12 institutions. Serum concentrations of pregnancy-associated plasma protein-A in the first trimester and alpha-fetoprotein (AFP), total human chorionic gonadotrophin, unconjugated estriol, and inhibin A in the second trimester were measured, and NT was measured between 10 and 14 weeks of gestation. @*Results@#Among 6,793 pregnant women, 5,381 women were measured for serum markers in the first or second trimester, including 65 cases in the VT group and 5,316 cases in the normal singleton group. The cases in the VT group had a higher median multiple of the median value of AFP and inhibin A than the normal singleton group. The values of other serum markers and NT were not different between the two groups. After the permutation test with adjustment,AFP and inhibin A remained significant differences. The frequency of abnormally increased AFP was also higher in the VT group than in the normal singleton group. @*Conclusion@#VT can be considered as an adjustment factor for risk assessment in the secondtrimester serum screening test.

C-fos Expression of Vestibular Nucleus in C57BL/6 Mouse Under the 7 Tesla Ultra High Magnetic Field / 대한평형의학회지

BACKGROUND AND OBJECTIVES: A typical side effect of super high magnetic field is dizziness and it is expected that 7 Tesla (T) super high magnetic field will have temporary influence on vestibular nucleus. Prevalence rate of dizziness generally increases with advancing years, so this study discusses whether the influence of 7 T super high magnetic field differs depending on the age. MATERIALS AND METHODS: C57BL/6 mice weighting from 10-40 g were categorized into 4-week-old and 16-week-old groups. They were exposed to 7 T magnetic field and immunohistochemical staining was done to observe expression of c-fos protein in vestibular nucleus of mice. RESULTS: Control group with normal vestibular system did not show c-fos protein. However, mice exposed to 7 T magnetic field showed c-fos expression selectively on medial and lateral parts of vestibular nucleus and there was no significant difference of c-fos expression between both sides (p<0.05). There was statistically significant difference between the different age group: 16-week-old mice group showed higher number of cells expressing c-fos protein than 4-week-old mice group did (p<0.05). CONCLUSION: It is statistically significant that 7 T super high magnetic field is more influential to older age group.

Necessity for a Whole-body CT Scan in Alert Blunt Multiple Trauma Patients

PURPOSE: Whole-body CT is a very attractive diagnostic tool to clinicians, especially, in trauma. It is generally accepted that trauma patients who are not alert require whole-body CT. However, in alert trauma patients, the usefulness is questionable. METHODS: This study was a retrospective review of the medical records of 146 patients with blunt multiple trauma who underwent whole body CT scanning for a trauma workup from March 1, 2008 to February 28, 2009. We classified the patients into two groups by patients' mental status (alert group: 110 patients, not-alert group: 36 patients). In the alert group, we compared the patients' evidence of injury (present illness, physical examination, neurological examination) with the CT findings. RESULTS: One hundred forty six(146) patients underwent whole-body CT. The mean age was 44.6+/-18.9 years. One hundred four (104, 71.2%) were men, and the injury severity score was 14.0+/-10.38. In the not-alert group, the ratios of abnormal CT findings were relatively high: head 23/36(63.9%), neck 3/6(50.0%), chest 16/36(44.4%) and abdomen 9/36(25%). In the alert group, patients with no evidence of injury were rare (head 1, chest 6 and abdomen 2). Nine(9) patients did not need any intervention or surgery. CONCLUSION: Whole-body CT has various disadvantages, such as radiation, contrast induced nephropathy and high medical costs. In multiple trauma patients, if they are alert and have no evidence of injury, they rarely have abnormal CT findings, and mostly do not need invasive treatment. Therefore, we should be cautious in performing whole-body CT in alert multiple trauma patients.

Treatment with Botulinum Toxin A in Continuous Facial and Neck Myokymia: A case report

Myokymia is a clinical phenomenon characterized by undulating, vermicular, rippling and wavelike movements spreading across the muscle surface. Facial myokymia is an unusual complication of brainstem hemorrhage. It tends to occur in brainstem tumor or multiple sclerosis. We report a 51-year-old man with continuous facial and neck myokymia after brainstem hemorrhage, who revealed focal myokymic discharges in face, neck and pharyngolaryngeal muscles in-nervated by cranial nerve V, VII, X, and XI. After injection of 20-80 units of Botulinum toxin type A (Dysport ) to the left orbicularis oris, mentalis, mylohyoid and posterior belly of digastric muscles, amplitude of continuous myokymic discharges was markedly reduced. We recommend Botulinum toxin injection as a very effective therapeutic method in managing focal movement disorders.

Atrophy of Multifidus Muscle on Low Back Pain Patients

OBJECTIVE: To investigate the correlation of multifidus muscle atrophy on MRI findings with clinical findings in low back pain patients. METHOD: Medical records of 80 patients presenting with low back pain were retrospectively reviewed. Their MR images were visually analysed to know lumbar multifidus muscle atrophy, disc herniation, disc degeneration, spinal stenosis and nerve root compression. RESULTS: Multifidus muscle atrophy increased from the upper lumbar level to the most caudal intervertebral level. It was bilateral in the majority of the cases. Multifidus muscle atrophy was well correlated with patient's age, referred leg pain, and disc degeneration. However, duration of low back pain, disc herniation, spinal stenosis, nerve root compression, sex, weight, height and BMI had no correlation with multifidus muscle atrophy. CONCLUSION: Examination of multifidus muscle atrophy should be considered when assessing MR images of lumbar spine. It may help for further evaluation and planning the treatment modalities of low back pain.