RESUMEN
Objective: This study explores the impact of infographics on the professional dissemination of medical research. Recognising the burgeoning volume of data in the medical domain, this research aims to bridge the gap by investigating the efficacy of infographics in rendering complex medical concepts understandable to diverse audiences, including policymakers, patients, and the public. Design: The study uses a cross-sectional survey to assess medical professionals' familiarity with infographic design and data visualisation principles. Setting. The research targets medical professionals with published articles across various subfields, including Clinical Medicine, Epidemiology, Pharmacology, Healthcare Management, Medical Imaging, and Public Health. Method: Data collection involves an online survey distributed to potential participants through professional networks and research institutions. The survey encompasses Likert-scale questions and demographic variables. Ethical considerations include obtaining approval from the institutional review board, ensuring participant consent, and maintaining data anonymity and confidentiality. Results: Demographic analysis reveals a diverse participant profile, with 58.7% male and 41.3% female respondents, spanning various age groups, professional experiences, and geographic locations. Assessing familiarity with infographic design and data visualisation principles demonstrates respondents' proficiency in certain areas while highlighting potential areas for improvement. Conclusion: The study underscores the multifaceted benefits of infographics in research dissemination, as medical professionals perceive. Infographics can effectively convey various kinds of medical research information across diverse platforms and channels.
Asunto(s)
Investigación Biomédica , Difusión de la Información , Humanos , Femenino , Masculino , Adulto , Estudios Transversales , Persona de Mediana Edad , Difusión de la Información/métodos , Difusión de la Información/ética , Encuestas y Cuestionarios , Anciano , Adulto JovenRESUMEN
Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder affecting 1:1,000,000 children. It results from pathogenic variants in the PLA2G6 gene located on chromosome 22q13.1. The onset of symptoms usually occurs between 6 and 18 months, causing developmental regression leading to debilitating symptoms such as muscle weakness, dementia, and loss of basic skills. Eventually, it progresses to life-threatening symptoms, including breathing difficulties, which limit the life expectancy to 5-10 years. While potential genetic therapies for treatment are being developed, they are yet to be approved for use, and management remains essentially supportive. This case report is about a nine-year-old Pakistani girl with INAD. She presented with recurrent chest infections, developmental regression, loss of speech, paralysis, hypertension, and eventually breathing difficulties. Brain magnetic resonance imaging and genetic testing confirmed the diagnosis. This case posed diagnostic challenges in view of its overlapping clinical presentation. Through this report, we aim to raise awareness about this condition among practitioners, outline the importance of genetic counseling in susceptible couples, and suggest potential areas of further research.
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Distrofias Neuroaxonales , Humanos , Femenino , Distrofias Neuroaxonales/genética , Distrofias Neuroaxonales/diagnóstico , Distrofias Neuroaxonales/fisiopatología , Niño , Imagen por Resonancia Magnética , Fosfolipasas A2 Grupo VI/genéticaRESUMEN
Infertility affects around 1 in 5 couples in the world. Congenital absence of the uterus results in absolute infertility in females. Müllerian agenesis is the nondevelopment of the uterus. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a condition of uterovaginal agenesis in the presence of normal ovaries and the 46 XX Karyotype. With advancements in reproductive techniques, women with MA having biological offspring is possible. The exact etiology of MA is unknown, although several genes and mechanisms affect the development of Müllerian ducts. Through this systematic review of the available literature, we searched for the genetic basis of MA. The aims included identification of the genes, chromosomal locations, changes responsible for MA, and fertility options, in order to offer proper management and counseling to these women with MA. A total of 85 studies were identified through searches. Most of the studies identified multiple genes at various locations, although the commonest involved chromosomes 1, 17, and 22. There is also conflicting evidence of the involvement of various candidate genes in the studies. The etiology of MA seems to be multifactorial and complex, involving multiple genes and mechanisms including various mutations and mosaicism.
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Trastornos del Desarrollo Sexual 46, XX , Anomalías Congénitas , Infertilidad , Humanos , Femenino , Conductos Paramesonéfricos , Trastornos del Desarrollo Sexual 46, XX/genética , MosaicismoRESUMEN
The rising incidence of obesity has coincided with rising levels of poor reproductive outcomes. The molecular basis for the association of infertility in obese males is now being explained through various mechanisms. Insulin resistance, hyperglycemia, and changes in serum and gonadal concentrations of adipokines, like leptin, adiponectin, resistin, and ghrelin have been implicated as causes of male infertility in obese males. The effects of obesity and hypogonadism form a vicious cycle whereby dysregulation of the hypothalamic-pituitary-testicular axis-due to the effect of the release of multiple mediators, thus decreasing GnRH release from the hypothalamus-causes decreases in LH and FSH levels. This leads to lower levels of testosterone, which further increases adiposity because of increased lipogenesis. Cytokines such as TNF-α and interleukins, sirtuins, and other inflammatory mediators like reactive oxygen species are known to affect fertility in obese male adults. There is evidence that parental obesity can be transferred through subsequent generations to offspring through epigenetic marks. Thus, negative expressions like obesity and infertility have been linked to epigenetic marks being altered in previous generations. The interesting aspect is that these epigenetic expressions can be reverted by removing the triggering factors. These positive modifications are also transmitted to subsequent generations.
Asunto(s)
Infertilidad Masculina , Adulto , Humanos , Masculino , Infertilidad Masculina/genética , Obesidad/complicaciones , Obesidad/genética , Fertilidad , Adiposidad , AdipoquinasRESUMEN
Auricular prostheses for defects of external ear are retained either by mechanical means or implants. All implant retained prostheses are retained by various means such as bar and clip, magnetic attachments or a combination of bar, clip and magnets. The commonest problem encountered with the bar and clip system is loosening of the clip after 3-4 months. When magnets are used as retaining component they tend to corrode over a period of time. So various alternative retention methods which possess good retentive qualities, ease of reparability and patient friendly were tried. In the present case a newly modified Hader bar design which can act as an additional retentive feature apart from the clip is employed to increase retention. The major advantages in the modified Hader bar system were that only two implants were employed, the additional loops in the Hader bar prevented micro movements and the retentive acrylic locks were easy to repair if broken. The modified Hader bar has anti-rotational slots which prevents the sliding or rotation of the prosthesis which gave new confidence to the patient who was otherwise worried of inadvertent displacement of the ear prosthesis while playing.
RESUMEN
Minimally traumatic tooth removal is the norm for removing teeth when a dental implant is planned at that site. The quantity of available bone is the primary requisite to place an implant. The initial use of a scalpel blade to widen the periodontal space followed by the use of luxators is one of the techniques that is being followed for atraumatic extraction. A case of accidental breakage of a number 11 scalpel blade while attempting tooth removal and the method adopted in removing this portion of the blade without further bone destruction is reported here. The authors have not found any previously published cases, reporting the breakage of a scalpel blade during the bone expansion procedure and its management.