Laurence Moon Bardet Beidl Syndrome is a rare Ciliopathic and Pleiotrophic human Autosomal recessive genetic disorder, which involves affects and effects on multiple organ system. Consanguineous marriage is usually the common cause. The characteristic feature of the disorder are progressive rod cone dystrophy, atypical retinitis Pigmentosa, myopia, central obesity, mental retardation, Anisometropia, Astigmatism, Postaxial Polydactyly, Hypogonadism in males, renal involvement. It affects males and females equally. The treatment of Laurence Moon Bardet Beidl Syndrome is usually directed towards the specific symptoms that are apparent in each individual. We here present a case report of 18 year old male patient presenting in medicine department with weakness of both lower limbs, inability to walk, progressive loss of vision and polydactyly.
Objective: Poisoning is a major prevalent problem, with thousands of deaths occurring every year, mainly in developing countries. The present study sought to identify the treatment pattern and outcomes of poisoning cases admitted to Basaveshwara Medical College and Hospital and Research Centre (BMCH and RC) and Government District Hospital and to determine the type of poison cases.Methods: This is a prospective observational study aimed to analyse the poisoning cases admitted to general medicine departments and emergency departments of BMCH and RC and Government District Hospital, Chitradurga, Karnataka for a period of six months. Results:A total of 100 cases were enrolled in this study. 63% of the cases were identified from BMCH and RC, with the remainder being from Government Hospital. The study shows that 41% of the cases were 21-30 y old. 48% (n=48) were males and 52% (n=52) were females. Different types of poisoning cases were observed; organophosphorus poisoning (OP) taking the lead, followed by snake bite cases. The study denotes a mortality rate of 4% and morbidity rate of 96%. A majority of cases were reported in the second quarter of the year. Conclusion:It was concluded from the above findings that young age adults constituted a significant percentage of the subjects. It is essential, therefore, to propose policies that can terminate the free trade of poisonous pesticides and to create awareness and periodically counsel the vulnerable group of the population.
Objective: The present study was conducted with the objective of analyzing the efficacy of triple-drug combination therapy (formoterol, ciclesonide, tiotropium) by comparing it with double drug combination therapy (formoterol, budesonide).Methods: A prospective observational study was conducted. Sixty patients were enrolled, and divided into two groups of thirty each; one group was treated with the double-drug and the other with a triple drug combination. FEV1 and FVC pre-and post-treatment in either group were assessed spirometrically. Score ranges of 0-10, 11-20 and 21-30 were allotted to mild, moderate and severe categories and results were analyzed statistically.Results: Of the 60 patients recruited, 61-70 y olds constituted the majority (35%) of the population. Males (63.3%) were more in number compared to females (36.6%). Twenty-three of thirty-eight men smoked (60.5%); there were no female smokers. Common symptoms included cough (93.3%), dyspnoea (85%), fever (45%) and haemoptysis (15%). Hypertension accounted for 70% of patient comorbidities, followed by diabetes (60%) and cardiovascular diseases (40%). Three months after treatment with triple therapy, a significant increase in the differences of means of both FEV1 (14.27) and FVC (14.90) values was observed. Further analysis based on score ranges demonstrated that triple therapy administration markedly reduced the number of patients suffering from severe COPD.Conclusion: Our comparative analysis indicated that triple therapy was more effective in improving lung function, enhancing patients’ quality of life (evidenced from score ranges) thereby reducing mortality. While much is known about the greater effectiveness of triple over dual therapy, researchers to formulate the most effective triple therapy are in progress.
Systemic-onset juvenile idiopathic arthritis (SoJIA) is a rare form of juvenile idiopathic arthritis (JIA) which manifests as quotidian fevers and arthritis in one or more joints. Features include characteristic salmon pink-colored rash associated with lymphadenopathy, hepatosplenomegaly, and serositis. To the best of our knowledge, this is a rare form of JIA in India and very few cases without multiorgan involvement have been published in literature. The following case reports a 12-year-old male child who presented to the hospital with a history of spiking fevers and arthritis in the knees, ankle, and hip joints. Diagnosis of SoJIA was confirmed after subsequent laboratory investigations; treatment included long-term nonsteroidal anti-inflammatory drugs, and methotrexate. However, due to increased cost of medicines and no guaranteed “cure” for the disease, the present patient switched from allopathic to homeopathic medicines. He still experiences frequent flare-ups associated with the disease, during which aceclofenac is taken for symptom relief. This case also highlights the importance of a “cure” for diseases rather than “symptom-oriented” treatment measures. When a cure is not guaranteed, patients may transition to inexpensive alternate therapies portraying limited efficacy. Further research in the field of rheumatology, specifically for rare diseases, is warranted.
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