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 CH3NH3PbI3 (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.

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.

Anomalies of the Corpus Callosum in Prenatal Ultrasound: A Narrative Review for Diagnosis and Further Counseling.

The corpus callosum is the major interhemispheric tract that plays an important role in neurological function. Understanding the etiology and embryology development helps the ultrasound diagnosis for disorders of the corpus callosum and further counseling. The nonvisualization of cavum septum pellucidum or dysmorphic cavum septum pellucidum in axial view are indirect signs for beginners to diagnose complete agenesis of corpus callosum (cACC) and partial agenesis of the corpus callosum (pACC). Further coronal view, sagittal view, and fetal magnetic resonance imaging are also important for evaluation. Genetic testing plays an essential tool in anomalies of corpus callosum by revealing the underlying genetic pathophysiology, such as chromosomal anomalies and numerous monogenetic disorders in 30%-45% of ACC. Diagnosis and prediction of prognosis for hypoplasia or hyperplasia of the corpus callosum are more difficult compared to cACC and pACC because of the limited reports in the literature. However, the complex types often had poorer prognostic outcomes compared to the isolated types. Hence, it is important to evaluate and follow fetal conditions thoroughly to rule out intracranial or extracranial anomalies in other systems.

Prenatal Diagnosis of Euploid Increased Nuchal Translucency on Fetal Ultrasound (II): RASopathy Disorders - Prenatal Ultrasound Findings and Genotype-phenotype Correlations.

Prenatal diagnosis of euploid increased nuchal translucency (NT) remains a challenge to obstetricians and genetic counselors, although increased euploid NT at prenatal diagnosis can be associated with a favorable outcome. Prenatal diagnosis of euploid increased NT should include a differential diagnosis of pathogenetic copy number variants and RASopathy disorders (RDs) including Noonan syndrome. Therefore, chromosomal microarray analysis, whole-exome sequencing, RASopathy-disorder testing, and protein-tyrosine phosphatase nonreceptor type 11 gene testing may be necessary under such a circumstance. In this report, a comprehensive review of RDs with its prenatal ultrasound findings and genotype-phenotype correlations is presented.

Electrocatalytic oxidation and amperometric determination of sulfasalazine using bimetal oxide nanoparticles-decorated graphene oxide composite modified glassy carbon electrode at neutral pH.

Cube-shaped samarium orthovanadate (SmVO4) nanoparticles were interconnected with a graphene oxide sheet (GOS) using a simple and eco-friendly method to generate a SmVO4@GOS nanocomposite. SmVO4 was characterized using various spectroscopic and microscopic techniques, which confirmed the wrapping of GOS around the SmVO4 nanoparticles. SmVO4@GOS was then used to modify a glassy carbon electrode (GCE), which was evaluated for its electrochemical performance toward the assay of sulfasalazine (SSZ), an antibiotic drug. Cyclic voltammetry and amperometry were both used for the assay of SSZ using the SmVO4@GOS-modified GCE at pH 7. The modified amperometric sensor is more sensitive, with a low detection limit (2.16 nM) and wide linear range of 20 nM-667 µM (Ag/AgCl). The electrochemical oxidation of SSZ was tested with blood serum and urine samples at physiological pH with recoveries in the range 96.1-98.6%. It indicates that the modified electrochemical sensor has good sensitivity and practical applicability toward SSZ detection. In the field of non-enzymatic sensors, SmVO4@GOS/GCE provides a highly promising performance. Therefore, the electrochemical sensors have capacity for extensive analytical applications in biomedical devices.

Prenatal Diagnosis of Euploid Increased Nuchal Translucency on Fetal Ultrasound (I): Noonan Syndrome: Prenatal Diagnosis and Genetic Testing.

Prenatal diagnosis of euploid increased nuchal translucency (NT) remains a challenge to obstetricians and genetic counselors although increased euploid NT at prenatal diagnosis can be associated with a favorable outcome. Prenatal diagnosis of euploid increased NT should include a differential diagnosis of pathogenetic copy number variants and RASopathy disorders (RDs) including Noonan syndrome (NS). Therefore, chromosomal microarray analysis, whole-exome sequencing, RD testing, and protein-tyrosine phosphatase, nonreceptor type 11 (PTPN11) gene testing may be necessary under such a circumstance. In this report, a comprehensive review of NS with its prenatal diagnosis and genetic testing is presented.

Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan.

Background and Objectives: Chromosomal microarray offers superior sensitivity for identification of submicroscopic copy number variants (CNVs) and is recommended for the initial genetic testing of patients with autism spectrum disorder (ASD). This study aims to determine the diagnostic yield of array comparative genomic hybridization (array-CGH) in ASD patients from a cohort of Chinese patients in Taiwan. Materials and Methods: Enrolled in this study were 80 ASD children (49 males and 31 females; 2-16 years old) followed up at Taipei MacKay Memorial Hospital between January 2010 and December 2020. The genomic DNA extracted from blood samples was analyzed by array-CGH via the Affymetrix GeneChip Genome-Wide Human single nucleotide polymorphism (SNP) and NimbleGen International Standards for Cytogenomic Arrays (ISCA) Plus Cytogenetic Arrays. The CNVs were classified into five groups: pathogenic (pathologic variant), likely pathogenic (potential pathologic variant), likely benign (potential normal genomic variant), benign (normal genomic variant), and uncertain clinical significance (variance of uncertain significance), according to the American College of Medical Genetics (ACMG) guidelines. Results: We identified 47 CNVs, 31 of which in 27 patients were clinically significant. The overall diagnostic yield was 33.8%. The most frequently clinically significant CNV was 15q11.2 deletion, which was present in 4 (5.0%) patients. Conclusions: In this study, a satisfactory diagnostic yield of array-CGH was demonstrated in a Taiwanese ASD patient cohort, supporting the clinical usefulness of array-CGH as the first-line testing of ASD in Taiwan.

Commercially available jeffamine additives for p-i-n perovskite solar cells.

Commercially available Jeffamines (polyetheramine) with average molecular weights of 2000 and 3000 g mol-1; one (M2005), two (D2000), and three (T3000) primary amino groups end-capping on the polyether backbone; and propylene oxide (PO) and ethylene oxide (EO) functionality were explored as additives for application in MAPbI3 perovskite solar cells (PSCs). The results indicated that the embedding of Jeffamine additives effectively passivates the defects in the grain boundaries of perovskite through the coordination bonding between the nitrogen atom and the uncoordinated lead ion of perovskite. We fabricated p-i-n PSC devices with the structure of glass/indium tin oxide (ITO)/NiOx/CH3NH3PbI3 (with and without Jeffamine)/PC61BM/BCP/Ag. We observed the interaction between the Jeffamine and perovskites. This interaction led to increased lifetimes of the carriers of perovskite, which enabled the construction of high-performance p-i-n PSCs. For the Jeffamine-D2000-derived device, we observed an increase in the power conversion efficiency from 14.5% to 16.8% relative to the control device. Furthermore, the mechanical properties of the perovskite films were studied. The interaction between the additive and perovskite reinforced the flexibility of the thin film, which may pave the way for stretchable optoelectronics.

The Twisted Benzo[ghi]-Perylenetriimide Dimer as a 3D Electron Acceptor for Fullerene-Free Organic Photovoltaics.

A series of twisted N,N-linked benzo[ghi]-perylenetriimide dimers (t-BPTI) with various lengths of the α-branched alkyl side chain at the six-membered imide ring position was designed, synthesized, and characterized. These compounds showed the low-lying LUMO energy level of -3.78 eV, which was similar to that of PC61 BM (-3.71 eV), but with intensive optical absorption in the range 350-500 nm. The twisted molecular geometry with two nearly perpendicular BPTI planes achieved a favorable nanoscale phase separation by relieving the self-aggregation of rigid BPTI units in blend films. The acceptor t-BPTI-3 unit with the longest alkyl side chains has been demonstrated to be an efficient electron acceptor in solution-processed bulk heterojunction organic photovoltaics (OPV), giving a power conversion efficiency of 3.68 % when using conjugated polymer PTB7-Th as the donor and without additional treatments.

Prenatal Ultrasound Evaluation and Outcome of Pregnancy with Fetal Cystic Hygromas and Lymphangiomas.

Cystic hygroma is a type of lymphangioma, which is a vascular anomaly associated with lymphatic malformations and formed by fluid accumulation mainly located at the cervi-cofacial and axillary regions. Cystic hygroma is mostly located in the neck (75%), followed by axilla (20%), retroperitoneum and intra-abdominal organs (2%), limbs and bones (2%), and mediastinum (1%). It is often associated with chromosome aneuploidies, hydrops fetalis, and even intrauterine fetal demise. The prognostic factors of the fetal cystic hygroma or lymphan-gioma are chromosome abnormalities, hydrops fetalis, septations, or thickness of the cystic hygroma and are associated with other major malformations. Prenatal managements including ultrasound serial follow-up, magnetic resonance imaging, or even intrauterine injection of sclerosing agents are suggested. For fetus with the risk of airway obstruction at delivery, ex utero intrapartum treatment is also indicated. Detailed prenatal counseling is necessary for better neonatal outcome.

Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome.

BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder predisposing to tumorigenesis that results from abnormal expression or function of imprinted genes of chromosome 11p15.5. METHODS: Forty-seven patients in Taiwan with clinical suspicion of BWS were referred for diagnostic testing based on methylation profiling of H19-associated imprinting center (IC) 1 and KCNQ1OT1-associated IC2 using high-resolution melting analysis, multiplex ligation-dependent probe amplification, or high-resolution quantitative methylation profiling. RESULTS: Twenty-eight patients received a clinical diagnosis of BWS (the presence of 3 major features or 2 major features and at least 1 minor feature), 18 had suspected BWS (the presence of at least 1 major feature), and 1 had isolated Wilms' tumor. Nineteen patients were identified with IC2 hypomethylation (including 1 with isolated Wilms' tumor), 1 with IC1 hypermethylation, 2 with paternal uniparental disomy, and 1 with CDKN1C mutation. Several clinical features were found to be statistically different (P<0.05) between the 2 groups-clinical diagnosis of BWS (n=28) or suspected BWS (n=18)-including macroglossia, pre- or postnatal gigantism, abdominal wall defect, ear creases, facial nevus flammeus, BWS score, and the molecular diagnosis rate. Molecular lesion was detected in 81% of patients with the presence of three major features, compared with 33% and 28% of those with two or one major feature, respectively. The mean BWS score was 5.6 for 19 subjects with "IC2 hypomethylation", compared with 3.8 for 2 subjects with pUPD. The BWS score of one subject with CDKN1C mutation and one with IC1 hypermethylation was 6 and 7, respectively. CONCLUSIONS: The BWS score was positively correlated with the molecular diagnosis rate (P<0.01). The BWS database of epigenotype, genotype, and phenotype is expected to promote better genetic counseling and medical care of these patients.

Prenatal diagnosis and molecular cytogenetic characterization of a de novo pure distal 9p deletion and literature review.

We present rapid aneuploidy diagnosis of distal 9p deletion by array comparative genomic hybridization using uncultured amniocytes in a pregnancy associated with an abnormal maternal serum screening result and intrauterine growth restriction (IUGR) in the fetus. We review the literature of prenatal diagnosis of distal 9p deletion, and add abnormal maternal serum biochemistry and fetal IUGR in the distinctive prenatal findings in pregnancy with fetal distal 9p deletion. We discuss the consequence of haploinsufficiency of DOCK8, KANK1, VLDLR and DMRT1 in this case.

Chromosomal abnormalities associated with fetal megacystis.

Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome. This review provides an overview of chromosomal abnormalities associated with fetal megacystis which is useful for genetic counseling and fetal therapy at prenatal diagnosis of fetal megacystis.

Syndromic and single gene disorders associated with fetal megacystis (I): Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS).

Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome. This review provides an overview of syndromic and single gene disorders associated with fetal megacystis which is useful for genetic counseling at prenatal diagnosis of fetal megacystis.

Genetic counseling of non-invasive prenatal testing (NIPT) trisomy 7-positive pregnancies.

Trisomy 7 is the most common observed type of rare autosomal trisomies (RATs) detected at expanded genome-wide non-invasive prenatal testing (NIPT). Genetic counseling of NIPT trisomy 7-positive pregnancies remains to be not easy because the parents may worry about the likelihood of adverse pregnancy outcomes, fetal abnormality and the necessity of invasive procedures for confirmation of fetal mosaic trisomy 7 and uniparental disomy (UPD) 7. This review provides a comprehensive information on the update issues concerning genetic counseling of NIPT trisomy 7-positive pregnancies.

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.

Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion.

OBJECTIVE: We present prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature. CASE REPORT: A 36-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes showed a de novo 1.38-Mb 17q12 microdeletion encompassing LHX1 and HNF1B. The parents did not have such a microdeletion. Prenatal ultrasound showed bilateral hyperechogenic kidneys with normal corticomedullary (CM) differentiation. The parents elected to continue the pregnancy, and a grossly normal 3180-g male baby was delivered at 39 weeks of gestation. aCGH analysis on the cord blood DNA revealed arr [GRCh37 (hg19)] 17q12 (34,856,055-36,248,918) × 1.0 with a 1.393-Mb microdeletion encompassing the genes of MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, ACACA, TADA2A, DUSP14, SYNRG, DDX52 and HNF1B. When follow-up at age 2 years and 4 months, the renal ultrasound revealed bilateral increased renal echogenicity with normal CM differentiation and small left renal cysts. The blood test revealed BUN = 28 mg/dL (normal: 5-18 mg/dL) and creatinine = 0.5 mg/dL (normal: 0.2-0.4 mg/dL). CONCLUSION: 17q12 microdeletion encompassing LHX1 and HNF1B at prenatal diagnosis may present variable clinical spectrum with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth. Prenatal diagnosis of fetal hyperechogenic kidneys should raise a suspicion of 17q12 microdeletion syndrome.

Prenatal diagnosis of familial 3p26.3p25.3 deletion in a pregnancy associated with a favorable fetal outcome and asymptomatic carrier parent and family members in three generations.

OBJECTIVE: We present prenatal diagnosis of familial 3p26.3p25.3 deletion in a pregnancy associated with a favorable fetal outcome and asymptomatic carrier parent and family members in three generations. CASE REPORT: A 35-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age and the carrier of distal 3p deletion. She was phenotypically normal, and there was no family history of congenital anomalies. Amniocentesis revealed a karyotype of 46,XY,del(3)(p26.1). Repeat amniocentesis at 21 weeks of gestation revealed a karyotype of 46,XY,del(3)(p25.3). Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes showed the result of arr 3p26.3p25.3 (117,735-8,709,972) × 1.0 [GRCh37 (hg19)] with an 8.59-Mb deletion of 3p26.3p25.3 encompassing 14 OMIM genes of CHL1, CNTN6, CNTN4, IL5RA, TRNT1, CRBN, SETMAR, SUMF1, ITPR1, BHLHE40, ARL8B, GRM7, LMCD1 and SSUH2. Cytogenetic analysis of parental bloods revealed a karyotype of 46,XX,del (3) (p25.3) in the mother and 46,XY in the father. The woman's 69-year-old mother and her 2-year-old elder son carried the same aberrant chromosome of 3p25.3→p26.3 deletion by conventional cytogenetic analysis but manifested no phenotypic abnormality. aCGH analysis of the peripheral bloods showed that the woman's mother and her elder son had the same 8.59-Mb deletion of 3p26.3p25.3. The woman was advised to continue the pregnancy. At 39 weeks of gestation, a 3040-g healthy male baby was delivered. When follow-up at age 2½ years, the neonate was normal in development and showed no apparent phenotypic abnormality. CONCLUSION: Distal 3p deletion of 3p26.3p25.3 involving the OMIM genes from CHL1 to SSUH2 can be associated with no apparent phenotypic abnormality.