Prenatal Sonographic Features of Miller-Dieker Syndrome

Miller-Dieker syndrome (MDS) is a contiguous gene deletion disorder involving genes on chromosome 17p13.3. Clinical manifestations include central nervous system (CNS) anomalies (mainly Type I lissencephaly), facial dysmorphism, growth restriction, profound mental retardation, seizure, and extracranial anomalies. The affected individuals often die in infancy or early childhood. Owing to the poor prognosis of MDS, early diagnosis of fetuses with MDS is important. Currently, ultrasound is regarded as a useful tool in prenatal detection of MDS, in addition to fetal magnetic resonance imaging. This article provides an overview of the reported prenatal sonographic features of MDS, including CNS anomalies (ventriculomegaly, agyria or lissencephaly, abnormal sylvian fissures, agenesis or dysgenesis of corpus callosum, and microcephaly), intrauterine growth restriction, polyhydramnios, cardiac anomalies, omphalocele, facial anomalies, and rare anomalies. Several diseases may have phenotypic overlaps with MDS, including Type I lissencephaly (Lissencephaly 1, Lissencephaly 2, and X-linked lissencephaly) and Type II lissencephaly. Increasing the awareness and knowledge of fetal structural anomalies associated with MDS on prenatal ultrasound will be helpful in the early detection, thus allowing appropriate genetic counseling and optimize clinical management

Prenatal Sonographic Features of Turner Syndrome

Turner syndrome (TS) was first described by Henry Turner in 1938 and was then known to be secondary to karyotypic variation of 45, X in 1959. Most conceptuses with TS spontaneously abort, and only 1% of these embryos survive to term. Fetuses with a pure and complete monosomy X often have more complicated anomalies than those with mosaicism and structural abnormalities in one X chromosome. Ultrasound has been reported to be a reliable tool in the prenatal diagnosis of TS. This article provides an overview of the common sonographic features of fetuses with TS, including cystic hygromas, increased nuchal translucency, non-immune hydrops fetalis, cardiovascular anomalies, urinary anomalies, short femur length, and other rare structural anomalies. Despite that some sonographic markers are transient and may be resolved later in gestation, detection of these markers in early pregnancy should remind obstetric clinicians of the importance of these predictors in TS. The prognosis for cases with TS detected in fetal life is relatively poor. In addition, several diseases may have phenotypic overlap with fetal TS, including non-TS-related cystic hygromas, non-TS-related non-immune hydrops fetalis and Noonan syndrome. Therefore, prenatal recognition of these sonographic features is of great help in karyotypic confirmation, and in appropriate genetic counseling and obstetric treatment

Prenatal Sonographic Features of Pallister-Killian Syndrome

Pallister-Killian syndrome (PKS), which is characterized by mental retardation, seizures, pigmentary skin lesions and dysmorphic facial features, is a rare chromosomal anomaly with the mosaic presence of an extra tissue-specific isochromosome 12p (mosaic tetrasomy 12p). Advanced maternal age is believed to be a risk factor for PKS. Ultrasound is a useful tool in the prenatal detection of characteristic findings associated with PKS. This article provides an overview of the prenatal sonographic features of PKS, including congenital diaphragmatic hernia, polyhydramnios, abnormal extremities, increased nuchal translucency or nuchal edema, cardiovascular anomalies, central nervous system anomalies, an abnormal facial profile, and other rare anomalies. Appropriate tissue samples and laboratory analytic techniques should be selected for an accurate prenatal diagnosis because of the instability of isochromosome 12p and the potentially incorrect interpretation as tetrasomy 21q on the traditional G-banded technique. Fryns syndrome, which has phenotypic overlap with PKS, is also discussed. Increasing awareness and knowledge of various anomalies of PKS on prenatal ultrasound would be helpful for the early detection of PKS. Definite diagnosis of fetuses with PKS could help clinical physicians in the decisionmaking process during the prenatal or postnatal periods

Methotrexate nanoparticle delivery system for treatment of inflammatory bowel disease in pediatric patients

Purpose: To evaluate the efficacy and safety of methotrexate (MTX) nanoparticles in pediatric patients with inflammatory bowel disease (IBD).Methods: In this randomized, open-label clinical study, 28 pediatric patients with moderate to severe IBD were randomly assigned to treatment (MTX  nanoparticles,15 mg/week) or control (azathioprine, AZA, 2 mg/kg/day) group.  Nanoparticles were synthesized by adding calcium chloride to sodium alginate solution containing MTX, and was further treated with poly-L-lysine aqueous  solution. The nanoparticles were evaluated for particle size, zeta potential and drug encapsulation efficacy. Erythrocyte sedimentation rate, C-reactive protein, aspartate aminotransferase, alanine transaminase, and disease activity scores were used to assess IBD remission.Results: Nanoparticle size, zeta potential and encapsulation efficacy were 164.4 ± 6.9 nm, -32.6 ± 3.7 mV, and 97.8 ± 4.2 %, respectively. After 12 weeks of therapy, the mean Pediatric Crohn's Disease Activity Index (PCDAI) scores for control and treatment groups were 22.3 ± 2.14 and 16.8 ± 1.87, respectively, while mean Pediatric Ulcerative Colitis Activity (PUCAI) Index scores were 24.3 ± 1.47 and18.7 ± 1.92, respectively. Eight patients in the treatment and five patients in the control group achieved remission. Biochemical parameters varied significantly between the groups.Conclusion: MTX nanoparticles are safe and more effective than standard first-line IBD therapy. However, further studies are required to determine the suitability of the formulation for therapeutic use.Keywords: Pediatric patient, Methotrexate nanoparticle, Inflammatory bowel disease, Azathioprin

Interstitial Chemotherapy for Malignant Gliomas

Glioma is the most common primary tumor in the central nervous system (CNS). Even with aggressive treatments, gliomas remain as one of the most devastating tumors. Chemotherapy through oral administration of temozolomide (TMZ) is currently the standard regimen for malignant gliomas. However, the systemic toxicity and drug resistance are frequently observed in glioma patients. In order to improve the efficacy and minimize side effects, multiple strategies have been developed. Interstitial chemotherapy is a promising one. By directly delivering chemotherapeutic agents in tumor bed, interstitial chemotherapy bypasses the blood–brain barrier (BBB) and therefore achieves a higher concentration with less systemic exposure. In this chapter, we will have a thorough review on the development and the application of interstitial chemotherapy in gliomas, with the focus on the biomaterial‐based and convection‐enhanced delivery system. In addition, the future of interstitial chemotherapy is also be shortly discussed

Alpha-1 antitrypsin is a potential biomarker for hepatitis B

<p>Abstract</p> <p>Background</p> <p>Function exertion of specific proteins are key factors in disease progression, thus the systematical identification of those specific proteins is a prerequisite to understand various diseases. Though many proteins have been verified to impact on hepatitis, no systematical protein screening has been documented to hepatitis B virus (HBV) induced hepatitis, hindering the comprehensive understanding to this severe disease.</p> <p>Aim</p> <p>To identify the major proteins in the progression of HBV infection from mild stage to severe stage.</p> <p>Methods</p> <p>We performed an integrated strategy by combining two-dimensional electrophoresis (2-DE), peptide mass fingerprinting (PMF) analysis, and tissue microarray techniques to screen the functional proteins and detect the localization of those proteins.</p> <p>Results</p> <p>Interestingly, MS/MS identification revealed the expression level of alpha-1 antitrypsin (AAT) was significantly elevated in serum samples from patients with severe chronic hepatitis. Immunoblotting with a specific AAT antibody confirmed that AAT is highly expressed in serum samples from patients with hepatic carcinoma and severe chronic hepatitis. Furthermore, we observed that AAT is with highest expression in normal tissue and cells, but lowest in hepatic carcinoma and severe chronic hepatitis tissues and cells, suggesting the specific secretion of AAT from tissues and cells to serum.</p> <p>Conclusion</p> <p>These results suggest the possibility of AAT as a potential biomarker for hepatitis B in diagnosis.</p

A Three-Phase Multiobjective Mechanism for Selecting Retail Stores to Close

To operate a successful and growing business, a retail store manager has to make tough decisions about selectively closing underperforming stores. In this paper, we propose using a three-phase multiobjective mechanism to help retail industry practitioners determine which stores to close. In the first phase, a geographic information system (GIS) and k-means clustering algorithm are used to divide all the stores into clusters. In the second phase, stores can be strategically selected according to the requirements of the company and the attributes of the stores. In the third phase, a neighborhood-based multiobjective genetic algorithm (NBMOGA) is utilized to determine which stores to close. To examine the effectiveness of the proposed three-phase mechanism, a variety of experiments are performed, based partly on a real dataset from a stock-list company in Taiwan. Results from the experiments show that the proposed three-phase mechanism can help efficiently decide which store locations to close. In addition, the neighborhood radius has a considerable influence on the results

The Design and Implementation of Collaborative Filtering in Data Mining

Data mining is the process of discovering explicit knowledge from large amounts of data stored in database, data warehouse or other repositories. There have been many studies about models of data mining such as association rule, sequential pattern and so on. Collaborative filtering is one of data mining models. In this paper, we propose two approaches to solving the mining process of collaborative filtering. Finally, collaborative filtering mining is applied to Knowledge Management system

8-Benzoyl-7-hy­droxy-4-methyl-2H-1-benzopyran-2-one monohydrate

In the title compound, C17H12O4·H2O, the coumarin ring system is approximately planar with a maximum atomic deviation of 0.011 (2) Å, and is nearly perpendicular to the phenyl ring at a dihedral angle of 86.63 (9)°. In the crystal, mol­ecules are linked by classical O—H⋯O and weak C—H⋯O hydrogen bonds. π–π stacking is also present [centroid–centroid distance = 3.6898 (12) Å]