BACKGROUND: Phosphoserine aminotransferase deficiency (PSATD) is an autosomal recessive disorder associated with hypertonia, psychomotor retardation, and acquired microcephaly. Patients with PSATD have low concentrations of serine in plasma and cerebrospinal fluid.
METHODS: We reported a 2-year-old female child with developmental delay, dyskinesia, and microcephaly. LC-MS/MS was used to detect amino acid concentration in the blood and whole-exome sequencing (WES) was used to identify the variants. PolyPhen-2 web server and PyMol were used to predict the pathogenicity and changes in the 3D model molecular structure of protein caused by variants.
RESULTS: WES demonstrated compound heterozygous variants in PSAT1, which is associated with PSATD, with a paternal likely pathogenic variant (c.235G>A, Gly79Arg) and a maternal likely pathogenic variant (c.43G>C, Ala15Pro). Reduced serine concentration in LC-MS/MS further confirmed the diagnosis of PSATD in this patient.
CONCLUSIONS: Our findings demonstrate the importance of WES combined with LC-MS/MS reanalysis in the diagnosis of genetic diseases and expand the PSAT1 variant spectrum in PSATD. Moreover, we summarize all the cases caused by PSAT1 variants in the literature. This case provides a vital reference for the diagnosis of future cases.

The present review aims to provide an overview of methods for the quantification of 2,5-dimethoxy-amphetamines and -phenethylamines in different biological matrices, both traditional and alternative ones.
A complete literature search was carried out with PubMed, Scopus and the World Wide Web using relevant keywords, e.g., designer drugs, amphetamines, phenethylamines, and biological matrices.
Synthetic phenethylamines represent one of the largest classes of \"designer drugs\", obtained through chemical structure modifications of psychoactive substances to increase their pharmacological activities. This practice is also favored by the fact that every new synthetic compound is not considered illegal by existing legislation. Generally, in a toxicological laboratory, the first monitoring of drugs of abuse is made by rapid screening tests that sometimes can occur in false positive or false negative results. To reduce evaluation errors, it is mandatory to submit the positive samples to confirmatory methods, such as gas chromatography or liquid chromatography combined to mass spectrometry, for a more specific qualitative and quantitative analysis.
This review highlights the great need for updated comprehensive analytical methods, particularly when analyzing biological matrices, both traditional and alternative ones, for the search of newly emerging designer drugs.

Pomegranate is a fruit-bearing tree. Pomegranate flowers, leaves, bark, fruit juice, peel and seeds were reported to have pharmacological effects. Recently, the researches about phytochemicals, metabolism and pharmacokinetics studies of different parts of pomegranate were carried out. There is a lack of summary on different parts of pomegranate. Furthermore, we were interested in potential correlations and differences on the phytochemicals, metabolism and pharmacokinetics studies between the different parts of pomegranate. This review is aimed to provide a comprehensive overview of reported researches on different parts of pomegranate about phytochemicals, metabolism and pharmacokinetics studies. Besides, we introduced analysis strategies for identifying phytochemicals in foods/plants and metabolites in biosamples using LC-HR MSn techniques. Furthermore, we firstly speculated structures and the maximum number of constitutional isomers of ellagitannins and gallotannins. This review is helpful for further application to discover more active compounds and their metabolites from pomegranate and other plants/foods.

In recent years, the consumption of polyphenols has been increasing, largely due to its beneficial effects on health. They are present in a wide variety of foods, but their extraction and characterization are complicated since they are mostly in complex matrices. For this reason, the use of selective, sensitive, and versatile analytical techniques such as liquid chromatography coupled to tandem mass spectrometry (LC-MS/MS) is necessary. In this review, the most relevant studies of the last years regarding the analysis of polyphenols in different matrices by comprehensive LC-MS/MS are discussed. Relevant steps such as extraction, sample purification, and chromatographic analysis methods are emphasized. In particular, the following methodological aspects are discussed: (a) the proper selection of the extraction technique, (b) the extraction and elution solvents, (c) the purification step, (d) the selection of both stationary and mobile phases for the chromatographic separation of compounds, and (e) the different conditions for mass spectrometry. Overall, this review presents the data from the most recent studies, in a comprehensive way, thus providing and simplifying the information of the great variety of works that exist in the literature on this wide topic.

Fat-soluble vitamins (FSVs) are micronutrients essential in maintaining normal physiological function, metabolism and human growth. Ongoing increased awareness regarding FSV concentrations and their impact on human growth along with disease progression warrant the need of developing selective and sensitive analytical methods. LC-MS/MS is currently the method of choice for accurate quantitation of FSVs. However, there are multiple approaches for extraction, separation and calibration of FSVs in biological matrices. This review discusses recent LC-MS/MS methods for the simultaneous quantification of FSVs in biological matrices and summarizes sample pretreatment procedures, chromatographic conditions and calibration approaches. Current challenges and clinical applications in various disease states are also highlighted.

Cannabis products (marijuana, weed, hashish) are among the most widely abused psychoactive drugs in the world, due to their euphorigenic and anxiolytic properties. Recently, hair analysis is of great interest in analytical, clinical, and forensic sciences due to its non-invasiveness, negligible risk of infection and tampering, facile storage, and a wider window of detection. Hair analysis is now widely accepted as evidence in courts around the world. Hair analysis is very feasible to complement saliva, blood tests, and urinalysis. In this review, we have focused on state of the art in hair analysis of cannabis with particular attention to hair sample preparation for cannabis analysis involving pulverization, extraction and screening techniques followed by confirmatory tests (e.g., GC-MS and LC-MS/MS). We have reviewed the literature for the past 10 years\' period with special emphasis on cannabis quantification using mass spectrometry. The pros and cons of all the published methods have also been discussed along with the prospective future of cannabis analysis.

Urine is a biological matrix that contains hundreds of metabolic end products which constitute the urinary metabolome. The development and advances on LC-MS/MS have revolutionized the analytical study of biomolecules by enabling their accurate identification and quantification in an unprecedented manner. Nowadays, LC-MS/MS is helping to unveil the complexity of urine metabolome, and the results obtained have multiple biomedical applications. This review focuses on the targeted LC-MS/MS analysis of the urine metabolome. In the first part, we describe general considerations (from sample collection to quantitation) required for a proper targeted metabolic analysis. In the second part, we address the urinary analysis and recent applications of four relevant families: amino acids, catecholamines, lipids and steroids.

Rosuvastatin calcium (ROS), ( Figure 1 ) belongs to the \"statins\" group, which is the 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitor. This drug is indicated for dyslipidemias treatment and can help to decrease the level of \"bad cholesterol\" and can consequently reduce the development of atherosclerosis and the risk of heart diseases. ROS was developed by Astra-Zeneca and it was approved in 2003 by the FDA in the United States. In 2015, under the trade name Crestor®, it was the fourth largest selling drug in the United States with sales above $5 billion. This study presents a literature review of analytical methods for the quantification of ROS in pharmaceutical preparations and biological fluids. The major analytical methods described in this study for ROS were spectrophotometry, high-performance liquid chromatography (HPLC) coupled to ultraviolet (UV) detection, and tandem mass spectrometry (LC-MS/MS).

Bioanalytical methods are widely used for quantitative estimation of drugs and their metabolites in physiological matrices. These methods could be applied to studies in areas of human clinical pharmacology and toxicology. The major bioanalytical services are method development, method validation and sample analysis (method application). Various methods such as GC, LC-MS/MS, HPLC, HPTLC, micellar electrokinetic chromatography, and UFLC have been used in laboratories for the qualitative and quantitative analysis of carbamazepine in biological samples throughout all phases of clinical research and quality control. The article incorporates various reported methods developed to help analysts in choosing crucial parameters for new method development of carbamazepine and its derivatives and also enumerates metabolites, and impurities reported so far.

A wide variety of azo dyes are generally added for coloring food products not only to make them visually aesthetic but also to reinstate the original appearance lost during the production process. However, many countries in the world have banned the use of most of the azo dyes in food and their usage is highly regulated by domestic and export food supplies. The regulatory authorities and food analysts adopt highly sensitive and selective analytical methods for monitoring as well as assuring the quality and safety of food products. The present manuscript presents a comprehensive review of various analytical techniques used in the analysis of azo dyes employed in food industries of different parts of the world. A brief description on the use of different extraction methods such as liquid-liquid, solid phase and membrane extraction has also been presented.