ABSTRACT
BACKGROUND: DICER1, a cancer predisposition syndrome (CPS), seems to escape timely diagnosis in pediatric patients. Case report 1: A 16-year-old female patient was referred to the endocrinology ward due to a large goiter. Her medical history indicated normal sexual maturation, with menarche occurring at 13.5 years. Over the past 2.5 years, she had developed pronounced androgenic symptoms, including a deepened male voice; facial, back, and neckline acne; hirsutism; and menstrual irregularities leading to secondary amenorrhea. A thyroid ultrasound identified a multinodular goiter (MNG) with cystic-solid lesions containing calcifications. An abdominal ultrasound identified a 5.7 × 6.9 cm solid mass in the right adnexal region, displacing the uterus to the left. Histopathological examination confirmed a Sertoli-Leydig cell tumor. The patient was subjected to a total thyroidectomy. Histopathology revealed benign follicular cell-derived neoplasms. Thyroid follicular nodular disease (TFND) was diagnosed bilaterally. DNA analysis using NGS, confirmed via the Sanger method, revealed a pathogenic heterozygotic variant c.2953C>T [p.Gln985*] in exon 18 of the DICER1 gene. Case report 2: A 12-year-old male patient was admitted to the pediatric surgery unit due to a 33 mL goiter. A month prior to his admission, the patient discovered a palpable nodule in his neck, accompanied by hoarseness. An ultrasound revealed MNG. Molecular analysis revealed a pathogenic heterozygotic variant c.2782C>T [p.Gln928*] in exon 17 of the DICER1 gene. Subsequently, a total thyroidectomy was performed, and histopathological examination revealed TFND bilaterally. CONCLUSIONS: Recent advances in genetic evaluation and in histological approaches indicate that MNG/TFND, although rare in the pediatric population, when accompanied by characteristic ultrasound and histopathological features, and by additional features such as androgenization, may warrant assessment also of the DICER1 gene within CPS molecular panel screening.
ABSTRACT
BACKGROUND: The objective of this meta-analysis was to investigate the anatomical variations of the mandibular lingula (ML) and its relationship to surrounding anatomical structures. Understanding such variations is crucial to help determine the site and depth of a successful inferior alveolar nerve (IAN) anesthetic block as well as a safe area for oral and maxillofacial invasive procedures in order to minimize the risk of neurological or hematological damage to the inferior alveolar nerve. MATERIALS AND METHODS: A systematic search was conducted in which all studies were searched on the anatomy of ML. Major medical databases such as PubMed, Scopus, Embase, Web of Science, Google Scholar, Cochrane Library were searched. RESULTS: All of the results were based on a total of 4694 subjects. The overall height of the ML was found to be 8.17 mm (SE =0.22). The Triangular Type of the ML was found to be the most common one. The pooled prevalence of this variation was found to be 29.33% (LCI = 23.57% ; HCI = 35.24%). The pooled prevalence of the Nodular Type was set to be 27.99% (LCI = 22.64% ; HCI = 33.67%). CONCLUSIONS: The present meta-analysis provides clinically relevant information regarding the shape, location, and height variations of the ML. Understanding such variations of the ML is crucial when performing malocclusion corrections procedures that require the ML as a landmark, namely sagittal split ramus osteotomy, and intraoral vertical ramus osteotomy. Furthermore, effective anesthetic blocks during oral and maxillofacial procedures can be accomplished with a higher success rate if the correct site of injection is identified. The possible locations of the ML should be considered in order to determine the location of the mandibular foramen and, therefore, inferior alveolar bundle in order to prevent motor, sensory, or perfusion pathology during maxillofacial and oral procedures of the lower jaw.
ABSTRACT
Drug-abuse detection tests are becoming increasingly commonplace in patient care today and provide a rapid and effective method for identifying illicit substances. Occasionally, they may yield a positive result, indicating the presence of a substance, even though the individual has not consumed the suspected drug what sometimes can significantly impact both medical and legal decisions. The study outlines the substances that can lead to false-positive drug test results for amphetamines, cannabinoids, and benzodiazepines. The study's findings have revealed pivotal insights for patients receiving chronic treatment and their primary care physicians. Notably, amphetamine assays appear to be most prone to cross-reactivity with other substances. The beta-blocker group of medications, confirmed by various studies to interfere with amphetamine assays, could pose a substantial challenge in drug screening given its widespread use. Efavirenz also warrants mention, as it frequently triggers positive results for both benzodiazepine and cannabinoid assays among its users. This research helps highlight new areas for further investigation and aims to guide clinicians in their daily practice, especially when interpreting questionable positive drug-abuse test results. This comprehensive review serves as a valuable resource for clinicians to navigate false-positive scenarios effectively and maintain the highest standard of patient care.
Subject(s)
Amphetamine , Substance Abuse Detection , Humans , Substance Abuse Detection/methodsABSTRACT
BACKGROUND: This meta-analysis aimed to present data on the sella turcica (ST) morphology and variations. Furthermore, a detailed morphometric analysis of the ST was conducted. METHODS: Major online databases such as PubMed, Scopus, Embase, Web of Science, and the Cochrane Library were searched through. The overall search process was conducted in three stages. RESULTS: This meta-analysis was based on the results of 18,364 patients and demonstrates the most up-to-date and relevant data regarding the morphology of the ST in the available literature. Four classification methods of the ST shape can be distinguished, in which the most commonly occurring variants are the normal ST (55.56%), the U-shaped ST (73.58%), the circular type of ST (42.29%), and non-bridging ST (55.64%). The overall midpoint height of the ST was 6.59 mm (SE = 0.13). The overall length of the ST was 9.06 mm (SE = 0.15). The overall volume of the ST was 845.80 mm3 (SE = 288.92). Four main classification methods of ST morphology can be distinguished in the available literature. Various morphometric characteristics of the ST may be applied in clinical practice to evaluate its shape, dimensions, and normal or pathological variants.
ABSTRACT
The objective of the present meta-analysis was to evaluate recent and applicable data regarding the location and variation of the atrioventricular nodal artery (AVNA) in relation to adjacent structures. In order to minimize postoperative risks and maintain physiological anastomosis for proper cardiac function, understanding such possible variations of vascularization of the AV node is of immense importance prior to cardiothoracic surgery as well as ablations. In order to perform this meta-analysis, a systematic search was conducted in which all articles regarding, or at least mentioning, the anatomy of the AVNA was searched. In general, the results were based on 3919 patients. AVNA was found to originate only from the RCA in 82.41% (95% CI: 79.46%-85.18%). The pooled prevalence of AVNA originating only from LCA was found to be 15.25% (95% CI: 12.71%-17.97%). The mean length of AVNA was found to be 22.64 mm (SE = 1.60). The mean maximal diameter of AVNA at its origin was found to be 1.40 mm (SE = 0.14). In conclusion, we believe that this is the most accurate and up-to-date study regarding the highly variable anatomy of the AVNA. The AVNA was found to originate most commonly from the RCA (82.41%). Furthermore, the AVNA was found to most commonly have no (52.46%) or only one branch (33.74%). It is hoped that the results of the present meta-analysis will be helpful for physicians performing cardiothoracic or ablation procedures.
