Genetic Counseling of Fetal Microcephaly.

Fetal microcephaly is a small head with various losses of cerebral cortical volume. The affected cases may suffer from a wide range in severity of impaired cerebral development from slight to severe mental retardation. It can be an isolated finding or with other anomalies depending on the heterogeneous causes including genetic mutations, chromosomal abnormalities, congenital infectious diseases, maternal alcohol consumption, and metabolic disorders during pregnancy. It is often a lifelong and incurable condition. Thus, early detection of fetal microcephaly and identification of the underlying causes are important for clinical staff to provide appropriate genetic counseling to the parents and accurate management.

Time to positivity of Klebsiella pneumoniae in blood cultures as prognostic marker in patients with intra-abdominal infection: A retrospective study.

Klebsiella pneumoniae is a common causative pathogen of intra-abdominal infection with concomitant bacteraemia, leading to a significant mortality risk. The time to positivity (TTP) of blood culture is postulated to be a prognostic factor in bacteraemia caused by other species. Therefore, this study aimed to investigate the prognostic value of TTP in these patients. The single-centred, retrospective, observational cohort study was conducted between 1 July 2016 and 30 June 2021. All adult emergency department patients with diagnosis of intra-abdominal infection and underwent blood culture collection which yield K. pneumoniae during this period were enrolled. A total of 196 patients were included in the study. The overall 30-day mortality rate was 12.2% (24/196), and the median TTP of the studied cohort was 12.3 h (10.5-15.8 h). TTP revealed a moderate 30-day mortality discriminative ability (area under the curve 0.73, p < 0.001). Compared with the late TTP group (>12 h, N = 109), patients in the early TTP (≤12 h, N = 87) group had a significantly higher risk of 30-day morality (21.8% vs. 4.6%, p < 0.01) and other adverse outcomes. Furthermore, TTP (odds ratio [OR] = 0.79, p = 0.02), Pitt bacteraemia score (OR = 1.30, p = 0.03), and implementation of source control (OR = 0.06, p < 0.01) were identified as independent factors related to 30-day mortality risk in patients with intra-abdominal infection and K. pneumoniae bacteraemia. Therefore, physicians can use TTP for prognosis stratification in these patients.

Interfacial Layer Materials with a Truxene Core for Dopant-Free NiOx -Based Inverted Perovskite Solar Cells.

Nickel oxide (NiOx ) is commonly used as a holetransporting material (HTM) in p-i-n perovskite solar cells. However, the weak chemical interaction between the NiOx and CH3 NH3 PbI3 (MAPbI3 ) interface results in poor crystallinity, ineffective hole extraction, and enhanced carrier recombination, which are the leading causes for the limited stability and power conversion efficiency (PCE). Herein, two HTMs, TRUX-D1 (N2 ,N7 ,N12 -tris(9,9-dimethyl-9H-fluoren-2-yl)-5,5,10,10,15,15-hexaheptyl-N2 ,N7 ,N12 -tris(4-methoxyphenyl)-10,15-dihydro-5H-diindeno[1,2-a:1',2'-c]fluorene-2,7,12-triamine) and TRUX-D2 (5,5,10,10,15,15-hexaheptyl-N2 ,N7 ,N12 -tris(4-methoxyphenyl)-N2 ,N7 ,N12 -tris(10-methyl-10H-phenothiazin-3-yl)-10,15-dihydro-5H-diindeno[1,2-a:1',2'-c]fluorene-2,7,12-triamine), are designed with a rigid planar C3 symmetry truxene core integrated with electron-donating amino groups at peripheral positions. The TRUX-D molecules are employed as effective interfacial layer (IFL) materials between the NiOx and MAPbI3 interface. The incorporation of truxene-based IFLs improves the quality of perovskite crystallinity, minimizes nonradiative recombination, and accelerates charge extraction which has been confirmed by various characterization techniques. As a result, the TRUX-D1 exhibits a maximum PCE of up to 20.8% with an impressive long-term stability. The unencapsulated device retains 98% of their initial performance following 210 days of aging in a glove box and 75.5% for the device after 80 days under ambient air condition with humidity over 40% at 25 °C.

Chromosomal abnormalities associated with fetal pleural effusion (I): General overview.

Fetal pleural effusion has been reported to be associated with chromosomal abnormalities, genetic syndromes, obstructive uropathy, lymphatic vessel abnormalities such as Noonan syndrome, RASopathy and congenital lymphatic anomalies, thoracic cavity defects, Rh or ABO incompatibility, non-immune hydrops fetalis, infections, congenital cardiac anomalies, metabolic diseases and hematologic diseases such as α-thalassemia. This review provides an overview of chromosomal abnormalities associated with fetal pleural effusion which is useful for genetic counseling and fetal therapy at prenatal diagnosis of fetal pleural effusion.

Syndromic and single gene disorders associated with fetal pleural effusion (I): Noonan syndrome, RASopathy and congenital lymphatic anomalies.

Fetal pleural effusion has been reported to be associated with chromosomal abnormalities, genetic syndromes, obstructive uropathy, lymphatic vessel abnormalities such as Noonan syndrome, RASopathy and congenital lymphatic anomalies, thoracic cavity defects, Rh or ABO incompatibility, non-immune hydrops fetalis, infections, congenital cardiac anomalies, metabolic diseases and hematologic diseases such as α-thalassemia. This review provides an overview of syndromic and single gene disorders associated with fetal pleural effusion that is useful for genetic counseling and fetal therapy at prenatal diagnosis of fetal pleural effusion.

Chromosomal abnormalities associated with fetal pleural effusion (II): Specific and non-specific chromosome aberrations.

Fetal pleural effusion has been reported to be associated with chromosomal abnormalities, genetic syndromes, obstructive uropathy, lymphatic vessel abnormalities such as Noonan syndrome, RASopathy and congenital lymphatic anomalies, thoracic cavity defects, Rh or ABO incompatibility, non-immune hydrops fetalis, infections, congenital cardiac anomalies, metabolic diseases and hematologic diseases such as α-thalassemia. This review provides a comprehensive view of specific and non-specific chromosome aberrations associated with fetal pleural effusion which is useful for genetic counseling and fetal therapy at prenatal diagnosis of fetal pleural effusion.

Incidental detection of familial 8p23.2 microduplication encompassing CSMD1 associated with mosaic 46,XY,t(7;8)(q31.2;p23.1)/46,XY at amniocentesis in a pregnancy with no apparent phenotypic abnormality and a favorable outcome.

OBJECTIVE: We present incidental detection of familial 8p23.2 microduplication encompassing CSMD1 associated with mosaic 46,XY,t(7;8)(q31.2;p23.1)/46,XY at amniocentesis in a pregnancy with no apparent phenotypic abnormality and a favorable outcome. CASE REPORT: A 38-year-old, gravida 2, para 1, phenotypically normal woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY,t(7;8)(q31.2;p23.1)[2]/46,XY[20]. The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes and parental bloods revealed the result of a 2.178-Mb 8p23.2 microduplication encompassing CSMD1, or arr 8p23.2 (3,070,237-5,248,586) × 3.0 [GRCh37 (hg19)] in the fetus and the mother. The father did not have such a microduplicaiton. Prenatal ultrasound findings were unremarkable. At 38 weeks of gestation, a 2880-g phenotypically normal male baby was delivered. All the cord blood, umbilical cord and placenta had the karyotype of 46.XY. When follow-up at age six months, the neonate was normal in phenotype and development. CONCLUSION: Mosaicism for a balanced reciprocal translocation with a euploid cell line can be a transient and benign condition. Familial 8p23.2 microduplication encompassing CSMD1 can be associated with a favorable outcome.

The minimal important difference for the Postural Assessment Scale for Stroke Patients in the subacute stage.

BACKGROUND: The minimal important difference (MID) of the Postural Assessment Scale for Stroke Patients (PASS) remains unknown, limiting the interpretation of change scores. OBJECTIVES: To estimate the MID of the PASS in patients with subacute stroke. METHODS: Data at admission and discharge for 240 participants were retrieved from a longitudinal study. The "mobility" item of the Barthel Index was used as the anchor for indicating the improvement of posture control. Receiver operating characteristic (ROC) method was used to estimate the anchor-based MID of the PASS. RESULTS: The ROC method identified a MID of 3.0 points, with a sensitivity of 81.0 % and a specificity of 75.6 %. CONCLUSION: The MID of the PASS was 3.0 points, indicating that if a patient achieves an improvement of 3.0 or more points on the PASS, they have a clinically important improvement in posture control. Our results can help in interpreting change scores and aid in understanding the clinical values of treatment outcomes.