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Neurodevelopmental disorders (NDDs) are a clinically and genetically heterogeneous group of early-onset pediatric disorders that affect the structure and/or function of the central or peripheral nervous system. Achieving a precise molecular diagnosis for NDDs may be challenging due to the diverse genetic underpinnings and clinical variability. In the current study, we investigated the underlying genetic cause(s) of NDDs in four unrelated Pakistani families. Using exome sequencing (ES) as a diagnostic approach, we identified disease-causing variants in established NDD-associated genes in all families, including one hitherto unreported variant in RELN and three recurrent variants in VPS13B, DEGS1, and SPG11. Overall, our study highlights the potential of ES as a tool for clinical diagnosis. [ABSTRACT FROM AUTHOR]

Thirteen (13) compounds of N-phenyl- O-alkyl carbamates ( 1 and 3), N, N-diethyl- N′-alkyl/aryl/phenylpiperazinoureas ( 4- 6, 8- 12), N-phenyl- N′-phenylpiperazino/imidazoureas ( 2, 7), and N-ethyl- (N′-phenylpiperazino) thioureas 13 were synthesized and tested for their antidepressant-like activity in mice. It was found that compound N-phenyl- O-heptyl carbamate 1 and N-phenyl- N′-phenylpiperazinourea 2 showed 32.5 and 27.7% antidepressant activity in the forced swim test in mice, respectively. Considering other carbamates it was found that a decrease in alkyl chain length caused a marked decline in the antidepressant activity. Compounds 1- 4 show even higher activities in the forced swim test than the standard phenelzine. [ABSTRACT FROM AUTHOR]

Unsaturated polyester resin (UPR) can be transformed into valuable and high quality industrial parts like gears, spools, pipes, etc. Curing/drying of UPR required organic peroxide as a source of radical flux. Most commonly used organic peroxide is methyl ethyl ketone peroxide, MEKP. At ambient temperature MEKP provides the flux of radicals very slow, therefore, certain active transition metal salts are added as promoters. These promoters catalyzed the oxidative decomposition of peroxide into radicals hence curing/drying of UPR increases. The efficiency of the promoters depends on the stability of metal salts. In this paper we synthesized ascorbic acid complexes of cobalt and copper with different ratio of metal to ligand and investigate their curing/drying property in comparison with cobalt naphthenate a conventional promoter. The results showed that all complexes are promoters in drying/curing of UPR. The complex with 2:1 ligand to metal ratio is found to be more active in drying/curing of UPR in comparison with 1:1 ligand to metal ratio. [ABSTRACT FROM AUTHOR]

Dopamine analogues are reported to have remarkable biological activities. Levodopa and carbidopa are the active ingredients of drugs used for the treatment of Parkinson and Alzheimer diseases. Methyldopa is another molecule belonging to the same class of compounds and is used as hypertensive drug. Concurrent ingestion of the metal ions can cause marked changes in the bioavailability of these drug molecules. In the present study, interaction of dopamine analogues with the bioessential metals like iron, copper, and aluminum is investigated. These bioessential metals have a significant role in the normal functioning of the brain and nerves. The work is aimed to establish a convenient, simple, and fast method through which the complexation of dopamine analogues with different bioactive metals can be explored. For this purpose, cyclic voltammetric probe is used and electrochemical parameters of electroactive drug in the presence and absence of metal ion are served as an analytical tool. It was found that the drug molecule undergoes coupled chemical reaction with the metal ions, and this interaction is pH dependent. Electrochemical behavior of the drug molecule was found to be changed in the presence of the metal ion. [ABSTRACT FROM AUTHOR]

An efficacious, rapid, and simple liquid chromatographic method was developed, validated, and applied for concurrent identification and quantitation of active ingredients (AIs) in plant protection products. The chromatographic separation of AIs was achieved on the Hypersil reverse phase C-18 (4.6 × 150 mm; 5 µm) column using isocratic elution mode with UV detection at 254 nm. Design of experiment was used for method development followed by response surface methodology. Here central composite design was used to study the profound effect of two independent variables, i.e., A (acetonitrile fraction in mobile phase) and B (flow rate of mobile phase). The optimum predicted conditions used for chromatographic separation were ACN:H2O (80:20) and flow rate (1.5 mL/min). Calibration curves of each AIs showed good linearity (R2 = 0.99) over the concentration range of 25–1000 µg/mL with inter and intra-day precision of < 1% RSD. The method detection and quantification limits ranged from 3.6–8.2 to 11.0–24.7 µg/mL, respectively. The developed method was found accurate and robust with mean recoveries ranging from 98.9 to 102.7%. Screening of 307 plant protection products revealed that 14% of samples were found to be counterfeit as compared to declared content by the manufacturer. [ABSTRACT FROM AUTHOR]