Search

A l'echelle mondiale, les femmes ont acquis une grande importance dans la politique electorale, en accedant a des postes de haut niveau dans divers domaines professionnels et en remportant de [...]

INTRODUCTION: A wide array of post‐translational modifications of the tau protein occurs in Alzheimer's disease (AD) and they are critical to pathogenesis and biomarker development. Several promising tau markers, pT181, pT217, and pT231, rely on increased phosphorylation within a common molecular motif threonine‐proline‐proline (TPP). METHODS: We validated new and existing antibodies against pT217, pT231, pT175, and pT181, then combined immunohistochemistry (IHC) and immunoassays (ELISA) to broadly examine the phosphorylation of the tau TPP motif in AD brains. RESULTS: The tau burden, as examined by IHC and ELISA, correlates to Braak stages across all TPP sites. Moreover, we observed regional variability across four TPP motif phosphorylation sites in multiple brains of sporadic AD patients. DISCUSSION: We conclude that there is an elevation of TPP tau phosphorylation in AD brains as disease advances. The regional variability of pTPP tau suggests that examining different phosphorylation sites is essential for a comprehensive assessment of tau pathology. [ABSTRACT FROM AUTHOR]

Sir, Familial hypocalciuric hypercalcemia (FHH) is a rare genetic disorder with autosomal dominant inheritance and high penetrance that manifests with mild parathyroid hormone (PTH)-dependent hypercalcemia and hypocalciuria.[[1]],[[2]] The disorder results from an inherited defect in calcium sensing mechanism at the level of parathyroid gland and the thick ascending limb of loop of Henle of kidney.[[3]] FHH is genetically heterogenous and three subtypes have been described, namely, FHH1, FHH2, and FHH3, related to inactivating mutations in the genes encoding calcium sensing receptor (CaSR), G-protein subunit alpha-11 (GNA11), and adaptor-related protein complex 2 sigma 1 subunit (AP2S1) proteins, respectively.[[3]] Most patients with FHH are asymptomatic.[[4]] The disorder runs a benign course in most patients; parathyroidectomy is neither required, nor it is curative.[[5]] Symptoms of neonatal hypocalcemia have been described in unaffected children of women affected with this rare disorder.[[6]] Here, we describe an Indian kindred with genetically confirmed type 1 FHH where the presentation in the index case was delayed till the age of 48 years, and confounded by secondary hyperparathyroidism related to vitamin D deficiency. Given the biochemical picture of mild PTH-dependent hypercalcemia, hypocalciuria, and absence of any end-organ manifestations of PTH excess, we considered a possibility of FHH and requested for family biochemical screening. A further work-up of hypercalcemia was not done and the patient was administered calcium (1 gram per day elemental calcium) and injectable (cholecalciferol 600,000 IU intramuscular once a week for 2 weeks), followed by oral vitamin D (cholecalciferol 60,000 IU sachet once a week for 8 weeks) preparations. [Extracted from the article]

Eye movement desensitization and reprocessing (EMDR) is a specific treatment modality that utilizes bilateral stimulation to help individuals who have experienced trauma. This stimulation can occur in a variety of forms, including left-right eye movements, tapping on the knees, headphones, or handheld buzzers, known as tappers. This type of psychotherapy allows the individuals to redefine their self-assessment and responses to a given traumatic event in eight defined steps. While EMDR is relatively new type of psychotherapy, existing literature has demonstrated positive results using this form of therapy when treating patients with post-traumatic stress disorder (PTSD) by utilizing eye movements to detract from negative conceptualizations as a response to a specific trigger, while reaffirming positive self-assessments. Research indicates that EMDR could be a promising treatment for mental health issues other than PTSD, including bipolar disorder, substance use disorders, and depressive disorders. In this article, the eight fundamental processes of EMDR are illustrated through a composite case vignette and examined alongside relevant research regarding its efficacy in treating PTSD. [ABSTRACT FROM AUTHOR]

Introduction: Addison disease refers to primary hypoadrenalism, most commonly caused by autoimmineadrenalitis and infections of the adrenal glands. It is a rare condition associated with high morbidity and mortality rates. However it is easily treatable once a correct diagnosis is made. Usual symptoms are weakness, tiredness, nausea, vomiting, postural dizziness and anorexia. Sometimes Addison disease may present with unusual symptoms so that making a correct diagnosis may require a high index of suspicion. Materials and Methods: We describe a case of a 19 year old male who presented to the emergency with complaints of abnormal behaviour in the form of inability to recognize family members and 2-3 episodes of seizure for past 3 days. Results: He was found to have hypotension, hyponatremia and hypoglycemia and was diagnosed as a case of Addison Disease. CT scan of abdomen showed bilateral adrenal calcification. Conclusion: Physicians must be aware of the varied presentation of Addison disease and basic investigations may give important clue to the correct diagnosis. Addison disease must be kept in the differential diagnosis of such cases. [ABSTRACT FROM AUTHOR]

It is now well established that non enzymatic glycation leads to formation of Amadori products which over course of time leads to formation of advanced glycation end products (AGEs). Accumulation of AGEs is very toxic and can have direct and indirect effects in the pathogenesis of various diseases including diabetes, alzheimer's disease, rheumatoid arthritis etc. Hence, to curb these harmful effects, a number of natural and synthetic compounds are being investigated so as to reduce clinically the impact of AGEs. Here, various AGE inhibitors and breakers published till date are being reviewed. Also, potential novel therapies are also being explored. [ABSTRACT FROM AUTHOR]

Hypocalcemia, characterized by low blood calcium levels, can range from asymptomatic to life-threatening. Common causes include hypoparathyroidism and vitamin D deficiency (VDD). Pseudohypoparathyroidism is a rare metabolic disorder marked by resistance to parathyroid hormone (PTH). This report details a young female presenting with severe hypocalcemia, hyperphosphatemia, and elevated PTH levels. She also had an associated VDD, which complicated the clinical picture. Despite receiving intravenous calcium and oral supplementation, she required extended treatment and readmission. Genetic testing revealed a variant in the CACNA1S gene. Her condition eventually stabilized with a strict, adjusted treatment regimen. This case underscores the importance of a systematic diagnostic approach, prolonged intravenous calcium therapy, and close monitoring. Pseudohypoparathyroidism represents a rare cause of severe hypocalcemia, emphasizing the need for close monitoring and regular follow-up to achieve improved outcomes., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Alam et al.)

Introduction: A wide array of post-translational modifications of the tau protein occurs in Alzheimer's disease (AD) and they are critical to pathogenesis and biomarker development. Several promising tau markers, pT181, pT217, and pT231, rely on increased phosphorylation within a common molecular motif threonine-proline-proline (TPP)., Methods: We validated new and existing antibodies against pT217, pT231, pT175, and pT181, then combined immunohistochemistry (IHC) and immunoassays (ELISA) to broadly examine the phosphorylation of the tau TPP motif in AD brains., Results: The tau burden, as examined by IHC and ELISA, correlates to Braak stages across all TPP sites. Moreover, we observed regional variability across four TPP motif phosphorylation sites in multiple brains of sporadic AD patients., Discussion: We conclude that there is an elevation of TPP tau phosphorylation in AD brains as disease advances. The regional variability of pTPP tau suggests that examining different phosphorylation sites is essential for a comprehensive assessment of tau pathology., (© 2023 The Authors. Alzheimer's & Dementia published by Wiley Periodicals LLC on behalf of Alzheimer's Association.)