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We report the case of a 6.6 years old boy, born to healthy unrelated parents, from a normal pregnancy, admitted for severe growth retardation. His height was 71 cm (-9.3 SD), with a weight of 6.6 kg and he presented a triunghiular face, mycrognatia, proeminent nose and hypertelorism resulting in a "bird headed" profile. He associated clinodactyly of the 5th finger and a slightly longer left leg. Tanner stages were P1 G1. The biochemical panel was normal, but he presented mild hypocromic anemia. The thyroid function was normal, and the IGF1 low. The karyotype was 46 XY and the bone age 4.5 years. The pituitary computed tomography revealed empty sella. Based on the clinical picture, the possible diagnosis of Seckel syndrome was suspected. A short course of treatment with Metandienonum 0.04 mg/kg/day for 3 months was recommended, without success (growth speed of 6 cm/year - -0.14 SD) [ABSTRACT FROM AUTHOR]

Individuals with male phenotypes and 46 XX karyotype appear in about 1 of 20,000 births with clinical features varying from normal male appearance to sexual ambiguity and hermaphroditism. More than 80% of these patients present a spontaneous translocation of the SRY gene from the Y to the X chromosome in the paternal germinal cells. We present a case of a 2 years old boy diagnosed with minor hypospadias, bifid scrotum, normal penis and palpable gonads in the scrotum. The karyotype is 46 XX and FISH analysis reveals SRY translocation on one of the X chromosomes. Ultrasound exam does not reveal any mullerian structures and a hCG test proves the testes to be functional. A short course of treatment with hCG is recommended in order to induce the proper development of the scotal sac. The patient will need monitoring, in order to identify the development of hypergonadic hypogonadism, which characterizes such patients in later life. This case underlines the importance of comprehensively investigating any patient with even minor genitalia anomalies. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 32-year old female who was admitted to the hospital for primary amenorrhea. Medical history shows that she had congenital spastic cerebral palsy with sequelar right hemiparesis. She also had dwarfism and panhypopituitarism. Results of computed tomography shows absence of septum pellucidum, hypoplasia of the corpus callosum.

Introduction: The online misinformation might undermine the vaccination efforts. Therefore, given the fact that no study specifically analyzed online vaccine related content written in Romanian, the main objective of the study was to detect and evaluate tweets related to vaccines and written in Romanian language., Methods: 1,400 Romanian vaccine related tweets were manually classified in true, neutral and fake information and analyzed based on wordcloud representations, a correlation analysis between the three classes and specific tweet characteristics and the validation of several predictive machine learning algorithms., Results and Discussion: The tweets annotated as misinformation showed specific word patterns and were liked and reshared more often as compared to the true and neutral ones. The validation of the machine learning algorithms yielded enhanced results in terms of Area Under the Receiver Operating Characteristic Curve Score (0.744-0.843) when evaluating the Support Vector Classifier. The predictive model estimates in a well calibrated manner the probability that a specific Twitter post is true, neutral or fake. The current study offers important insights regarding vaccine related online content written in an Eastern European language. Future studies must aim at building an online platform for rapid identification of vaccine misinformation and raising awareness for the general population., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Valeanu, Mihai, Andrei, Puscasu, Ionica, Hinoveanu, Predoi, Bulancea, Chirita, Negres and Marineci.)

Multiple sclerosis (MS) is a demyelinating, autoimmune disease that affects a large number of young adults. Novel therapies for MS are needed considering the efficiency and safety limitations of current treatments. In our study, we investigated the effects of venlafaxine (antidepressant, serotonin-norepinephrine reuptake inhibitor), risperidone (atypical antipsychotic) and febuxostat (gout medication, xanthine oxidase inhibitor) in the cuprizone mouse model of acute demyelination, hypothesizing an antagonistic effect on TRPA1 calcium channels. Cuprizone and drugs were administered to C57BL6/J mice for five weeks and locomotor activity, motor performance and cold sensitivity were assessed. Mice brains were harvested for histological staining and assessment of oxidative stress markers. Febuxostat and metabolites of venlafaxine (desvenlafaxine) and risperidone (paliperidone) were tested for TRPA1 antagonistic activity. Following treatment, venlafaxine and risperidone significantly improved motor performance and sensitivity to a cold stimulus. All administered drugs ameliorated the cuprizone-induced deficit of superoxide dismutase activity. Desvenlafaxine and paliperidone showed no activity on TRPA1, while febuxostat exhibited agonistic activity at high concentrations. Our findings indicated that all three drugs offered some protection against the effects of cuprizone-induced demyelination. The agonistic activity of febuxostat can be of potential use for discovering novel TRPA1 ligands.

In a drug-repurposing-driven approach for speeding up the development of novel antimicrobial agents, this paper presents for the first time in the scientific literature the synthesis, physico-chemical characterization, in silico analysis, antimicrobial activity against bacterial and fungal strains in planktonic and biofilm growth state, as well as the in vitro cytotoxicity of some new 6,11-dihydrodibenz[ b , e ]oxepin-11(6 H )one O-(arylcarbamoyl)oximes. The structures of intermediary and final substances (compounds 7a - j ) were confirmed by 1 H-NMR, 13 C-NMR and IR spectra, as well as by elemental analysis. The in silico bioinformatic and cheminformatic studies evidenced an optimal pharmacokinetic profile for the synthesized compounds 7a - j , characterized by an average lipophilic character predicting good cell membrane permeability and intestinal absorption; low maximum tolerated dose for humans; potassium channels encoded by the hERG I and II genes as potential targets and no carcinogenic effects. The obtained compounds exhibited a higher antimicrobial activity against the planktonic Gram-positive Staphylococcus aureus and Bacillus subtilis strains and the Candida albicans fungal strain. The obtained compounds also inhibited the ability of S. aureus , B. subtilis , Escherichia coli and C. albicans strains to colonize the inert substratum, accounting for their possible use as antibiofilm agents. All the active compounds exhibited low or acceptable cytotoxicity levels on the HCT8 cells, ensuring the potential use of these compounds for the development of new antimicrobial drugs with minimal side effects on the human cells and tissues.

Multiple sclerosis (MS) is a chronic autoimmune disease affecting the central nervous system (CNS) through neurodegeneration and demyelination, leading to physical/cognitive disability and neurological defects. A viable target for treating MS appears to be the Transient Receptor Potential Ankyrin 1 (TRPA1) calcium channel, whose inhibition has been shown to have beneficial effects on neuroglial cells and protect against demyelination. Using computational drug discovery and data mining methods, we performed an in silico screening study combining chemical graph mining, quantitative structure-activity relationship (QSAR) modeling, and molecular docking techniques in a global prediction model in order to identify repurposable drugs as potent TRPA1 antagonists that may serve as potential treatments for MS patients. After screening the DrugBank database with the combined generated algorithm, 903 repurposable structures were selected, with 97 displaying satisfactory inhibition probabilities and pharmacokinetics. Among the top 10 most probable inhibitors of TRPA1 with good blood brain barrier (BBB) permeability, desvenlafaxine, paliperidone, and febuxostat emerged as the most promising repurposable agents for treating MS. Molecular docking studies indicated that desvenlafaxine, paliperidone, and febuxostat are likely to induce allosteric TRPA1 channel inhibition. Future in vitro and in vivo studies are needed to confirm the biological activity of the selected hit molecules.

One of the rarest situations regarding an adrenal incidentaloma is an adrenal cyst. We present the case of a 61-year-old male patient diagnosed with peritonitis. During surgery, a right adrenal tumor of 2 cm is discovered. The patient was referred to endocrinology. 6 months later the diameter of the tumor is 7 times bigger than the initial stage. It has no secretory phenotype, except for the small increase of serum aldosterone and the 24-h 17-ketosteroids. Open right adrenalectomy is performed and a cyst of 15 cm is removed. The evolution after surgery is good. The pathological exam reveals an adrenal cyst with calcifications and osteoid metaplasia. The immunohistochemistry showed a positive reaction for CD34 and ACT in the vessels and VIM in the stroma. The adrenal cysts are not frequent and represent a challenge regarding the preoperative diagnostic and surgical procedure of resection. The pathological exam highlights the major aspects.

Introduction: Clinical nonfunctional pituitary microadenomas, also known as incidentalomas are accidental observations made due to the application of high resolution imaging techniques as computed tomography or magnetic resonance. There are no standards regarding the follow-up of these tumors and taking into account their increased frequency among general population (during the last years they were based on the high performances of the imaging methods), we decided to study their dimensions and their evolution over time. We have also analysed their behavior with respect to their endocrine phenotype and the minimum period of time needed for the repetition of the imagistic procedure., Aim: To observe the natural evolution of tumors' dimensions in a group of patients, diagnosed with nonfunctional pituitary microadenomas based upon hormonal measurements and computed tomography scan., Method: There is a retrospective observational study on 149 patients hospitalized in our Clinic between 1994 and 2006. Initially, all the pituitary hormones and the computed tomography were performed. Only nonfunctional microadenomas were included (the maximum diameter 11 mm). 69 patients were examined for a long period of time--29.75 +/- 24.79 months by CT scan and secretory profile, repeated at different periods of time., Results: At the end of 29.75 months, the aspect of microadenoma was still present, without any statistically significant changes of the diameter. One of the cases became macroadenoma and another proved to be a microprolactinoma. Only 5 cases of all 149 presented a double lesion. No case of pituitary apoplexy was registered. These observations lead to the conclusion that it is not necessary to repeat the computed tomography scan sooner than 2 years once the diagnosis ofincidentaloma was established.

Alzheimer's disease is defined in part by the intraneuronal accumulation of filaments comprised of the microtubule associated protein tau. Because animal model studies suggest that a toxic gain of function accompanies tau aggregation in neurons, selective pharmacological inhibitors of the process may have utility in slowing neurodegeneration. Here, the properties of a candidate small molecule inhibitor of tau fibrillization, 3-(2-hydroxyethyl)-2-[2-[[3-(2-hydroxyethyl)-5-methoxy-2-benzothiazolylidene]methyl]-1-butenyl]-5-methoxybenzothiazolium (N744), were characterized in vitro using transmission electron microscopy. N744 inhibited arachidonic acid-induced aggregation of full-length, four-repeat tau protein at substoichiometric concentrations relative to total tau and with an IC(50) of approximately 300 nM. Inhibition was accompanied by a dose-dependent decrease in the number concentration of filaments, suggesting that N744 interfered with tau filament nucleation. Stoichiometric concentrations of N744 also promoted tau disaggregation when added to mature synthetic filaments. Disaggregation followed first-order kinetics and was accompanied by a steady decrease in filament number, suggesting that N744 promoted endwise loss of tau molecules with limited filament breakage. N744 at substoichiometric concentrations did not inhibit Abeta and alpha-synuclein aggregation, indicating it was tau selective under these conditions. Because of its activity in vitro, N744 may offer a pharmacological approach to the role of tau fibrillization in neurodegeneration.