Celebrities and medical awareness—The case of celine dion and stiff-person syndrome

The positive role of celebrities in spreading important medical information and contributing to increasing public awareness regarding the diagnosis, treatment, and prevention of various medical conditions cannot be overemphasized. Interestingly and importantly at the same time, this impact is not related to the rarity of the disease, as very rare diseases are looked up by the public due to the fact that a celebrity suffers from this disorder. Therefore, if taken seriously and used to address the public in regard to critical medical conditions, such as screening for cancer or the importance of vaccines in fighting infections, celebrities could have a huge impact in this field. As previously shown in the medical literature, the recent announcement of the famous Canadian singer Celine Dion concerning her newly diagnosed stiff-person syndrome has influenced the public interest regarding the syndrome which manifested as an increased search volume related to the disorder as seen in Google Trends. In brief, in this short communication we aimed to address the phenomenon of celebrities’ impact on public apprehension, revise the syndrome for the medical community, and emphasize taking advantage of such involvement of celebrities for improving the spread of highly important medical information for the public

Ramadan Fasting Exerts Immunomodulatory Effects: Insights from a Systematic Review

Ramadan is the ninth month of the Islamic lunar calendar and is observed by Muslims as a month of fasting. All Muslim adults are expected to fast; nevertheless certain subgroups, including sick, frail subjects, and pregnant women, among others, are exempted. Ramadan fasting has been shown to impact on body systems in different manners. The influence of Ramadan fasting on immune system regulation remains elusive; however, immune system changes, such as the modulation of body response to various infectious, stressful, and other harmful events, are of great interest during fasting. In this paper, we performed an extensive systematic literature review of different scholarly databases (ISI/Web of Science, Scopus, PubMed,/MEDLINE, Google Scholar, Directory of Open Access Journals, EbscoHOST, Scirus, Science Direct, the Cochrane Library, and ProQuest), using the following key words: “fasting,” “Ramadan,” “Islam,” and “immunity.” Conclusions drawn from these findings included: (1) Ramadan fasting has been shown to only mildly influence the immune system and the alterations induced are transient, returning to basal pre-Ramadan status shortly afterward. (2) Ramadan fasting during the second trimester of pregnancy was shown to be safe and did not result in negative fetal outcomes, or maternal oxidative status alterations. (3) In cardiac patients, Ramadan fasting can have beneficial effects including lipid profile improvement and alleviation of oxidative stress. (4) In asthmatic patients as well as in patients with human immunodeficiency virus/acquired immunodeficiency syndrome and autoimmune disorders, fasting was safe. (5) In psychiatric patients, such as those suffering from schizophrenia, fasting could increase immunologic markers. (6) Fasting Muslim athletes who maintain intensive training schedule during Ramadan showed fluctuations of immunologic markers

Folate and B12 Levels Correlate with Histological Severity in NASH Patients

Background: The correlation between abnormal vitamin serum levels and chronic liver disease has been previously described in literature. However, the association between the severity of folate serum levels (B9), vitamin B12 and nonalcoholic steatohepatitis (NASH) has not been widely evaluated. Therefore, the aim of this study was to investigate the existence of such a correlation in a cohort of NASH patients. Methods: All patients aged 18 years and older who were diagnosed with biopsy-proven NASH at the EMMS hospital in Nazareth during the years 2015–2017 were enrolled in this study. Data regarding demographic, clinical and laboratory parameters was collected. Patients with other liver diseases were excluded. Results: Eighty-three NASH patients were enrolled during the study period. The mean age was 41 ± 11 years and the majority of patients were male. Mean values of folate and B12 were 9.85 ± 10.90 ng/mL and 387.53 ± 205.50 pg/mL, respectively. Half of the patients were presented with a grade 1 steatosis (43.4%), a grade 2 fibrosis (50.6%) and a grade 3 activity score (55.4%). The fibrosis grade was significantly correlated with low folate levels on multivariate analysis (p-value < 0.01). Similarly, low B12 levels were significantly associated with a higher fibrosis grade and NASH activity (p-value < 0.001 and p-value < 0.05 respectively). Conclusion: Our study demonstrated a statistically significant correlation between low levels of folate and vitamin B12 with the histological severity of NASH. These findings could have diagnostic and therapeutic implications for patient management and follow-up

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

The acyl-CoA-binding domain-containing protein 6 (ACBD6) is ubiquitously expressed, plays a role in the acylation of lipids and proteins, and regulates the N-myristoylation of proteins via N-myristoyltransferase enzymes (NMTs). However, its precise function in cells is still unclear, as is the consequence of ACBD6 defects on human pathophysiology. Utilizing exome sequencing and extensive international data sharing efforts, we identified 45 affected individuals from 28 unrelated families (consanguinity 93%) with bi-allelic pathogenic, predominantly loss-of-function (18/20) variants in ACBD6. We generated zebrafish and Xenopus tropicalis acbd6 knockouts by CRISPR/Cas9 and characterized the role of ACBD6 on protein N-myristoylation with YnMyr chemical proteomics in the model organisms and human cells, with the latter also being subjected further to ACBD6 peroxisomal localization studies. The affected individuals (23 males and 22 females), with ages ranging from 1 to 50 years old, typically present with a complex and progressive disease involving moderate-to-severe global developmental delay/intellectual disability (100%) with significant expressive language impairment (98%), movement disorders (97%), facial dysmorphism (95%), and mild cerebellar ataxia (85%) associated with gait impairment (94%), limb spasticity/hypertonia (76%), oculomotor (71%) and behavioural abnormalities (65%), overweight (59%), microcephaly (39%) and epilepsy (33%). The most conspicuous and common movement disorder was dystonia (94%), frequently leading to early-onset progressive postural deformities (97%), limb dystonia (55%), and cervical dystonia (31%). A jerky tremor in the upper limbs (63%), a mild head tremor (59%), parkinsonism/hypokinesia developing with advancing age (32%), and simple motor and vocal tics were among other frequent movement disorders. Midline brain malformations including corpus callosum abnormalities (70%), hypoplasia/agenesis of the anterior commissure (66%), short midbrain and small inferior cerebellar vermis (38% each), as well as hypertrophy of the clava (24%) were common neuroimaging findings. acbd6-deficient zebrafish and Xenopus models effectively recapitulated many clinical phenotypes reported in patients including movement disorders, progressive neuromotor impairment, seizures, microcephaly, craniofacial dysmorphism, and midbrain defects accompanied by developmental delay with increased mortality over time. Unlike ACBD5, ACBD6 did not show a peroxisomal localisation and ACBD6-deficiency was not associated with altered peroxisomal parameters in patient fibroblasts. Significant differences in YnMyr-labelling were observed for 68 co- and 18 post-translationally N-myristoylated proteins in patient-derived fibroblasts. N-Myristoylation was similarly affected in acbd6-deficient zebrafish and Xenopus tropicalis models, including Fus, Marcks, and Chchd-related proteins implicated in neurological diseases. The present study provides evidence that bi-allelic pathogenic variants in ACBD6 lead to a distinct neurodevelopmental syndrome accompanied by complex and progressive cognitive and movement disorders

ChatGPT and autoimmunity – A new weapon in the battlefield of knowledge

The field of medical research has been always full of innovation and huge leaps revolutionizing the scientific world. In the recent years, we have witnessed this firsthand by the evolution of Artificial Intelligence (AI), with ChatGPT being the most recent example. ChatGPT is a language chat bot which generates human-like texts based on data from the internet. If viewed from a medical point view, ChatGPT has shown capabilities of composing medical texts similar to those depicted by experienced authors, to solve clinical cases, to provide medical solutions, among other fascinating performances. Nevertheless, the value of the results, limitations, and clinical implications still need to be carefully evaluated. In our current paper on the role of ChatGPT in clinical medicine, particularly in the field of autoimmunity, we aimed to illustrate the implication of this technology alongside the latest utilization and limitations. In addition, we included an expert opinion on the cyber-related aspects of the bot potentially contributing to the risks attributed to its use, alongside proposed defense mechanisms. All of that, while taking into consideration the rapidity of the continuous improvement AI experiences on a daily basis

Sexually transmitted diseases at the time of Italian colonies: Historical, ethical and medical implications

Italian colonialism has peculiar features when compared with other colonialisms. However, as for the other colonialisms, sexual imagery has played a major role also in the history of the Italian colonialism, contributing to forge and shape customs and rituals. Colonial Africa was perceived as a fertile land, prone to invasion and conquest, as its women, lascivious, and ready to be seduced, loved and abandoned, for use and consumption of white men. At the time of Italian colonies, rhetoric depicted African women as women living completely naked, aiming at attracting young soldiers. African women were characterized by a double dimension of exoticism and eroticism. Dualisms such as male/female, Italian/stranger, white/black, north/south, center/suburbs defined the relationship between Italy and its colonies, delineating a real sexual colonialism, full of violence, occasional relations (defined as sciarmuttismo) and relations more uxorio (termed as madamato or madamismo in Eritrea and Ethiopia, and in Lybia). From a medical standpoint, in the Italian colonies sexually transmitted diseases (STDs) were quite widespread and common. Different institutions (\u201csifilicomio\u201d) for treating prostitutes and concubines suffering from STDs were built: the first \u201csifilicomio\u201d opened in June 1885. Even though syphilis was endemic in the African continent, medical statistics collected by colonial physicians were rather inaccurate, and the concerns of colonial officers for a decline of protectorate populations due to the spreading of STDs were on one hand exaggerated, on the other not based on scientific evidences. Anyway, based on their ideology, perceptions and personal beliefs, colonial officers introduced \u201cpaternalistic\u201d programs. These initiatives, rather than being inspired by medical objectives, were due to concerns over labor shortage potentially impacting on the viability and stability of protectorates and constituted an attempt of \u201csocially engineering\u201d the African continent, interfering with the private sphere. In conclusion, Italian colonialism presents many nuances, which warrant further investigations

Is autoimmunology a discipline of its own? A big data-based bibliometric and scientometric analyses

Autoimmunology is a super-specialty of immunology specifically dealing with autoimmune disorders. To assess the extant literature concerning autoimmune disorders, bibliometric and scientometric analyses (namely, research topics/keywords co-occurrence, journal co-citation, citations, and scientific output trends – both crude and normalized, authors network, leading authors, countries, and organizations analysis) were carried out using open-source software, namely, VOSviewer and SciCurve. A corpus of 169,519 articles containing the keyword “autoimmunity” was utilized, selecting PubMed/MEDLINE as bibliographic thesaurus. Journals specifically devoted to autoimmune disorders were six and covered approximately 4.15% of the entire scientific production. Compared with all the corpus (from 1946 on), these specialized journals have been established relatively few decades ago. Top countries were the United States, Japan, Germany, United Kingdom, Italy, China, France, Canada, Australia, and Israel. Trending topics are represented by the role of microRNAs (miRNAs) in the ethiopathogenesis of autoimmune disorders, contributions of genetics and of epigenetic modifications, role of vitamins, management during pregnancy and the impact of gender. New subsets of immune cells have been extensively investigated, with a focus on interleukin production and release and on Th17 cells. Autoimmunology is emerging as a new discipline within immunology, with its own bibliometric properties, an identified scientific community and specifically devoted journals

Epilepsy is not statistically associated with systemic sclerosis but significantly impacts on mortality: A real-world epidemiological survey-based study

Little is known about the relationship between epilepsy and SSc. Our study included 2431 SSc patients and 12,710 age- and sex matched controls. In 209 controls (1.6%) and 66 SSc patients (2.7%), epilepsy diagnosis was made (not significant). In the multivariate logistic regression analysis, higher age (OR 1.01 [95% CI 1.00-1.02], p = 0.0207) was associated with an increased risk of epilepsy, whereas high vs low socioeconomic status (SES) (OR = 0.62 [95% CI 0.42-0.92], p = 0.0189) was associated with a low risk of epilepsy. In the Cox multivariate survival analysis, higher age (HR = 1.06 [95% CI 1.06-1.07], p &lt; 0.0001), epilepsy (HR = 2.28 [95% CI 1.77-2.94], p &lt; 0.0001) and SSc (HR = 2.37 [95% Cl 2.07 2.71], p &lt; 0.0001) were independent risk factors for all-cause mortality. In contrast, BMI &gt;30 kg/m(2) vs BMI &lt;20 kg/m(2) (HR = 0.69 [95% CI 0.59-0.81, p &lt; 0.0001]), female gender (HR = 0.73 [95% CI 0.65-0.83], p &lt; 0.0001) and high SES (HR = 0.72 [95% CI 0.63-0.82], p &lt; 0.0001) were protective factors for mortality. SSc-related autoantibodies were not associated with the risk of epilepsy. In conclusion, whilst epilepsy and SSc are not significantly associated, epilepsy is a predictor of mortality in SSc patients. (C) 2019 Elsevier Ltd. All rights reserved

On status epilepticus and pins: a systematic content analysis

Status epilepticus (SE) can be defined as abnormally prolonged, persistent, or recurrent clinical and/or electrographic epileptic activity and, as such, is a challenging medical emergency requiring an aggressive treatment aimed at promptly terminating the seizures. It imposes a relevant clinical burden, both in terms of comorbidity and mortality. In the era of the Web 2.0, most people search the Web to obtain SE-related information. The current investigation aimed at qualitatively characterizing the pins related to SE: Pinterest, "the world's catalog of ideas", is a visual social networking site that enables users to freely upload visual material, to bookmark, and to share it (repin). Using SE as a keyword, 192 pins were extracted and analyzed on the basis of their content. Fifty-five were found to meet the inclusion criteria. Fifty-six point four percent of the pins reported at least one cause of SE, the most quoted of which being remote brain injuries (47.3% of the pins); 54.5% and 45.5% of the included pins reported SE symptoms and diagnosis, respectively; 72.7% and 40.0% of pins focused on SE treatment and on prognosis, respectively; and 50.9%, 30.9%, and 40.0% of the pins were intended for physicians, medical/nursing students, and lay people, respectively. Only 12.7% of pins were patient-centered and devoted to fund-raising and advocacy. In the field of neurological diseases, Pinterest, despite being a "pinstructive" tool, is too much overlooked and underused for advocacy purposes. Healthcare workers and stakeholders should be aware of the opportunities offered by Pinterest and exploit this visual social networking site for raising awareness of the life-threatening condition of SE, promoting fund-raising campaigns

An infodemiological investigation of the so-called "Fluad effect" during the 2014/2015 influenza vaccination campaign in Italy: ethical and historical implications

Influenza vaccines represent a major tool to contain the clinical and epidemiological burden generated by influenza. However, in spite of their effectiveness, vaccines are victims of prejudices and false myths, which contribute to the increasing phenomenon of vaccine hesitancy and loss of confidence. Media and, mainly, new media, and information and communication technologies play a major role in disseminating health-related information. While, on the one hand, they can be extremely promising in promoting disease prevention, on the other hand, they can also have a negative impact on population's health attitudes and behaviors when delivering information not based on scientific evidences. The "Fluad-case" is an excellent example of the crucial role of an adequate information campaign. Following the cluster of deaths allegedly related to the administration of the adjuvanted influenza vaccine "Fluad" during the 2014-2015 influenza campaign, the Italian health authorities and regulatory bodies decided the withdrawal of two potentially contaminated Fluad batches. This fostered a huge media coverage, with resulted in negatively impacting on influenza vaccination coverage. Monitoring and tracking the Fluad-related web searches, we showed that Liguria resulted the Italian region with the highest number of Fluad-related website searches and that, interestingly, Fluad was searched also in Regions in which this vaccine was not distributed. A positive moderate correlation between accessing Fluad-related websites and overall influenza vaccination coverage was found (r = 0.66 ([95%CI 0.29-0.86], p = 0.0026). Considering subjects 6565&nbsp;years, who are the subjects for which the Fluad vaccination is recommended, the correlation resulted r = 0.49 ([95%CI 0.03-0.78], p = 0.0397). As such, health authorities and decision-makers should promote high-quality communication campaigns in order to raise awareness of vaccination practices