ABSTRACT
Marfan syndrome, a hereditary disorder of connective tissue marked by FBN1 gene mutations, presents a clinical tapestry requiring a multidisciplinary approach for optimal management. This case report details the presentation of an 11-year-old male exhibiting musculoskeletal deformities, notably an abnormally curved spine and congenital hip dysplasia, indicative of Marfan syndrome. The absence of cardiovascular abnormalities and family history challenges the diagnostic process. Clinical evaluation revealed classical signs, including positive wrist and thumb signs, pectus carinatum, a loose skin fold, and scapular winging. Laboratory investigations, including imaging studies, confirmed the diagnosis. The patient's management involves a multifaceted strategy, addressing cardiovascular risks through beta-blockers and potential surgical interventions, orthopedic measures for musculoskeletal complications, and ophthalmologic interventions for ocular manifestations. Genetic counseling facilitates informed decision-making, and psychosocial support ensures holistic care. This case underscores the necessity of recognizing atypical presentations and employing a holistic, collaborative approach for early diagnosis and effective management of Marfan syndrome, thereby emphasizing the importance of ongoing research and heightened clinical awareness in enhancing outcomes for individuals living with this intricate genetic disorder.
ABSTRACT
Macular amyloidosis is primary localized cutaneous amyloidosis (PLCA). It is described by the extracellular accumulation of heterogenic amyloid proteins in the skin that does not affect the systemic immune system, causing hyperpigmented patches. It is a prevalent skin disorder of young female adults, especially in India, since it affects the population with darker skin. History of frictional rub on the skin is typically present, such as using loofah or bathing scrubs or stones. The case presented below is of a 23-year-old female who presented with a hyperpigmented patch on the upper back of both sides and extensor surface of arms and did not have any history of usage of loofah on those areas, compelling us to research more on the other causative factors (genetic predisposition, infectious agents, and UV radiation are probable causative factors) for macular amyloidosis. This condition is not entirely cured; it is managed symptomatically only to improve cosmetic outcomes.
ABSTRACT
A prevalent condition that is frequently linked to joint trauma is joint hyper-laxity. The knee joint is one of the most complex and injury-prone joints in sports. The most commonly injured is the anterior cruciate ligament (ACL). The case presented below is of a 24-year-old athlete with a past history of many sports-related injuries who is now presented with a complete tear of the ACL with hyper-laxity as a risk factor. The patient has a Beighton score of six out of nine without any other symptoms, which is suggestive of benign hyper-laxity of the joints and not hyper-laxity syndrome. Here, we emphasize that medical professionals must know the fundamental connection between hyper-laxity and musculoskeletal injuries and their proper management and rehabilitation for future prevention.
ABSTRACT
Most adolescent tobacco control programs focus on preventing consumption, but teen smoking persists. It is uncertain whether adult-specific therapies can assist adolescents in quitting smoking. The rising incidence of smoking in low and middle-socioeconomic countries and the challenges of conducting tobacco cessation programs in these settings (due to increasing population, poor lifestyle, lack of awareness and education, professional stress, and non-compliance) need an emphasis on the scope of trials to conduct tobacco cessation in these settings. In the 11th Five Year Plan, the Indian government introduced a new National Tobacco Control Program, which currently spans 108 districts in 31 states across the country. The objective is to review the randomized control trials of selected individuals held in India and assess and evaluate the effectiveness of the steps taken by the government to help people quit tobacco consumption. These programs are important because of the hazards and impact they have on the public health indices of the nation. The government has taken steps like prohibiting smoking in public areas and banning sources. Several programs, particularly those that employed group counselling, included a range of approaches that proved beneficial in helping young people quit smoking. The RCTs mentioned are psychosocially followed by behavioral and pharmacological therapies. The challenges faced are not having participatory health care, motivating tobacco users to quit even in the short-term, adequate coverage; barriers at a different level of implementation (at a regional, state, or national level); and interference by the tobacco industry should be eliminated. The currently functioning programs in India are the National Tobacco Control Program, the National and three Regional Quitlines and mCessation.
