Neurological manifestation of Vitamin D deficiency

Idiopathic intracranial hypertension, also known as pseudotumor cerebri, is a disorder with raised intracranial pressure, headache, papilledema, visual disturbances with a normal cerebrospinal fluid examination, and normal neuroimaging. It is rare in the pediatric population and may occur as a manifestation of underlying disorders. Vitamin D deficiency is a common deficiency in the pediatric age group. However, neurological manifestations are rare. Here, we present the case of a 5-year-old male child who presented with headache, vomiting, and hypertension; however, the neurological examination was normal but the neuroimaging was suggestive of pseudotumor cerebri. Appropriate investigations were done. The most likely cause of pseudotumor cerebri in this patient was the deficiency of Vitamin D. We have reported this case as pseudotumor cerebri is a rare neurological manifestation of Vitamin D deficiency.

The endophilin curvature-sensitive motif requires electrostatic guidance to recycle synaptic vesicles in vivo

Curvature-sensing mechanisms assist proteins in executing particular actions on various membrane organelles. Here, we investigated the functional specificity of curvature-sensing amphipathic motifs through the study of endophilin, an endocytic protein for synaptic vesicle recycling. We generated chimeric endophilin proteins by replacing the endophilin amphipathic motif H0 with other curvature-sensing amphipathic motifs. We found that the role of amphipathic motifs cannot simply be extrapolated from the identity of their parental proteins. For example, the amphipathic motif of the nuclear pore complex protein NUP133 functionally replaced the synaptic role of endophilin H0. Interestingly, non-functional endophilin chimeras had similar defects — producing fewer synaptic vesicles but more endosomes — indicating that the curvature-sensing motifs in these chimeras have a common deficiency at reforming synaptic vesicles. Finally, we converted non-functional endophilin chimeras into functional proteins by changing the cationic property of amphipathic motifs, setting a precedent for reprogramming the functional specificity of curvature-sensing motifs in vivo.

Society Defends Itself: The Biopolitical Dilemma, Singularity of Existence, and Social Black Hole in Covid-19

This essay focuses on the existential conflict between society and politics that has once again come to the fore in the sense of biopolitical theory with the Covid-19 outbreak. It attempts to demonstrate where and how the theory of biopolitics is insufficient at understanding the individual, who has reset all relationships under the circumstances of the pandemic, while providing a certain viewpoint based on true and logical facts. The essay considers this insufficiency as a common deficiency of the various types of biopolitical theory and correlates this to a historical deficiency that has lacked a concept of absolute singularity (i.e., singularity of existence) that would precede the compromises and necessities associated with life in identifying socio-political origins. Thus, the article argues the theory of biopolitics to have persisted in this sense within the theories of classical order, particularly the Hobbesian theory of social contract, based on replicated historical deficiency. Therefore, the key issue of the essay is whether a non-relational moment of existence exists for any nature or framework that refutes all the responsibilities, concessions, or regularities attached to it such that it cannot be appropriated. The essay affirms this issue through a theoretical probability and attempts to view the circumstances present in the Covid-19 phase not as the moment itself but as its signals, messages, and indications. This moment is conceptualized as a social black hole. Thus, the essay examines the destructive and constitutive role of the moment in which life sinks into social black holes.

SAT-210 When Acne, Hirsutism and Menstrual Irregularities Are More Than PCOS

Background: Polycystic ovarian syndrome (PCOS) mimics non-classic congenital hyperplasia (NCCAH), presenting with hyperandrogenic symptoms. NCCAH is usually diagnosed later in life, where 21-hydroxylase (21OHD) is the most common deficiency. There are more than 300 mutations in 21OHD, being V281L one of the described mutations. Clinical Case: 23 y/o female patient G0P0 comes to the office complaining of irregular periods, frontal hair loss, weight gain, acne and hirsutism. She has had noticed these changes since menarche; however, her acne was getting worse. Was seen 2 months prior to presentation by her gynecologist who order a free Testosterone that was elevated (6.4 pg/mL, n<4.2 pg/mL), with normal TSH (1.1 uIU/mL, n,0.45-4.5). She was not taking any medication. Her mother has history of 2 spontaneous abortions and her sister has acne and hirsutism as well. On physical exam BMI was 26, it was noticed comedones and papules on her face, back and shoulders. Ferriman-Gallwey scale was >8. At the initial visit due to the clinical scenario, it was thought that she had hyperandrogenic syndrome, probably secondary to PCOS. Serum blood test were ordered and showed an elevated total testosterone (71 ng/dL, n,8-48ng/dL), free testosterone (8.4 pg/mL, n<4.2 pg/mL), 17- OH pregnenolone performed by liquid chromatography-tendem mass spectrometry (LC-MS/MS) was (429 ng/dL, n, 35-290 ng/dL luteal phase) and androstenedione LC-MS/MS (1941 ng/dL, n, 41-262 ng/dL) which confirmed NCCAH diagnosis due to 21OHD. She had no desire to become pregnant at the time of evaluation; however, was concern about fertility and genetics. Was started on OCPs and genetic testing was positive for V281L mutation in the CYP21A2 gene, being homozygous for this mutation. Three months after, her acne and frontal hair loss were better, and a trial of spironolactone 50 mg daily, was prescribed. For her sister and mother was suggested to consult endocrinology, due to possible same disease. Conclusion: this case highlights the importance of recognizing NCCAH as a cause of hyperandrogenism. Molecular genetic analysis should be offered with genetic counseling to patients, since they can carry a severe allele which can affect their progeny. Clinicians should be aware of the importance of family history when diagnosing NCCAH on their patients; for detection, treatment and genetic counseling of NCCAH on family members as well, as found in this case.

VITAMIN D IN NORMAL AND PATHOLOGICALLY CHANGED ENDOMETRIUM

More and more evidence from research confirms the significance of vitamin D (VD) in the development of endometrial pathologies. Apart from the well known role of VD in regulation of calcium levels, VD acts as modulator to many genes involved in cell growth, immunological functions and protein synthesis. The newest research shows that VD acts multidirectionally and its common deficiency has a causal link to the pathogenesis of many gynecological and cancerous conditions. It is postulated that VD affects the endometrium via various mechanisms. The discovery that most tissues have VD receptors was ground-breaking in understanding its role in various medical conditions, including the neoplasmal development mechanism, but the degree, to which the VD metabolism in the eutopic endometrium during pathological conditions is impaired, has not yet been explained.

DETERMINISTIC INITIALIZATION OF THE K-MEANS ALGORITHM USING HIERARCHICAL CLUSTERING

K-means is undoubtedly the most widely used partitional clustering algorithm. Unfortunately, due to its gradient descent nature, this algorithm is highly sensitive to the initial placement of the cluster centers. Numerous initialization methods have been proposed to address this problem. Many of these methods, however, have superlinear complexity in the number of data points, making them impractical for large data sets. On the other hand, linear methods are often random and/or order-sensitive, which renders their results unrepeatable. Recently, Su and Dy proposed two highly successful hierarchical initialization methods named Var-Part and PCA-Part that are not only linear, but also deterministic (nonrandom) and order-invariant. In this paper, we propose a discriminant analysis based approach that addresses a common deficiency of these two methods. Experiments on a large and diverse collection of data sets from the UCI machine learning repository demonstrate that Var-Part and PCA-Part are highly competitive with one of the best random initialization methods to date, i.e. k-means++, and that the proposed approach significantly improves the performance of both hierarchical methods.

Effect of the Accountable Care Act of 2010 on Clinical Trial Insurance Coverage

Purpose The Affordable Care Act (ACA) of 2010 implemented dramatic changes in our health care system. The new law requires that insurers and health plans provide coverage for individuals participating in clinical trials. Currently, there are states that already have laws or agreements requiring clinical trial coverage, but there remain deficiencies that will need to be addressed to achieve compliance with the new law. Methods State mandates were reviewed to determine current laws and agreements. The ACA was reviewed to outline its provisions, and these were compared with current mandates to identify deficiencies. Results Eighteen states meet the requirements set forth by the ACA either through a state law or agreement; 33 states do not meet the requirements. Of these 33 states, 15 do not have any existing laws or agreements in place regarding clinical trials. In states that have deficient policies in place, the most common deficiency is the lack of phase I coverage. The second most common deficiency in policy is coverage of only therapeutic studies. Conclusion Most states currently do not meet the requirements of the ACA and will be required to make changes by 2014. The implications of the ACA with regard to insurance coverage of clinical trials remain unclear as implementation of the legislation unfolds. State governments can take steps to ensure insurance coverage by creating and expanding agreements with insurance companies.