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How to identify rare diseases from public health perspective
Rare diseases are often difficult to identify because they affect a small percentage of the population. Public health professionals play an important role in identifying rare diseases. Early identification of rare diseases can lead to better treatment outcomes. Rare diseases may have a genetic component. Public health professionals can use surveillance systems to identify rare diseases. Collaboration with healthcare providers is important in identifying rare diseases. Rare diseases may present with unusual symptoms. Public health professionals can use screening programs to identify rare diseases. Genetic testing can be used to identify rare diseases. Rare diseases may be misdiagnosed as more common conditions.Public health professionals should be aware of the prevalence of rare diseases in their population. Public health professionals can use electronic health records to identify cases of rare diseases. Rare diseases may have a familial pattern of inheritance.
About the Speaker
Dr. Umashankar
BHMS, MPH, University of South Florida, USA. Professor and Managing Director Arogyati Private Limited
Upcoming Case Discussions
H. pylori Treatment with PYELRA®: Best Practices
PYLERA® is a medication used for the treatment of Helicobacter pylori (H. pylori) infection, a common cause of stomach ulcers and gastritis. It contains a combination of three active ingredients: bismuth subcitrate potassium, metronidazole, and tetracycline. This combination works synergistically to eradicate H. pylori bacteria and reduce associated symptoms. Treatment with PYLERA® typically involves taking multiple capsules four times a day for a specified duration, as prescribed by a healthcare provider. It is important to follow the treatment regimen as directed and to discuss potential side effects
Amenorrhea: Clinical Features & Treatment
Amenorrhea refers to the absence of menstrual periods in women of reproductive age and can be classified as either primary or secondary. Clinical features of amenorrhea may include hot flashes, vaginal dryness, breast changes, headaches, and hair loss, depending on the underlying cause such as hormonal imbalances, stress, or anatomical abnormalities. Diagnosis involves a thorough medical history, physical examination, and tests including hormone levels (e.g., FSH, LH, estradiol, thyroid function tests) and imaging studies (e.g., ultrasound, MRI). Treatment depends on the cause and may include lifestyle modifications, hormone replacement therapy, medications to induce ovulation, or surgical intervention in cases of structural abnormalities. Management aims to address underlying factors, restore menstrual function, and address any associated symptoms or complications of amenorrhea. Regular follow-up and monitoring are essential to assess treatment efficacy and address any new concerns or changes in symptoms.
Osteoporosis: Basic Facts
Postpartum hemorrhage (PPH) is a significant complication following childbirth, characterized by excessive bleeding within 24 hours of delivery. It's a leading cause of maternal mortality globally. PPH can occur due to various factors, including uterine atony (failure of the uterus to contract), trauma during childbirth, retained placental tissue, or coagulation disorders. Prompt recognition and intervention are crucial to prevent severe consequences. Management typically involve uterine massage, administration of uterotonic medications, uterine artery embolization, or, in severe cases, surgical interventions like hysterectomy. Timely and effective management strategies are essential to reduce maternal morbidity and mortality associated with PPH. Osteoporosis is a progressive bone disease characterized by decreased bone density and structural deterioration, leading to an increased risk of fractures, particularly in the spine, hips, and wrists. It often develops silently over years, with no symptoms until a fracture occurs. Factors such as aging, hormonal changes, inadequate nutrition (especially calcium and vitamin D deficiency), sedentary lifestyle, and certain medications contribute to its development. Prevention and management strategies include weight-bearing exercises, adequate calcium and vitamin D intake, lifestyle modifications to reduce risk factors, and sometimes medication to strengthen bones and reduce fracture risk. Early detection through bone density testing and proactive intervention are crucial in mitigating its impact on individuals' health and quality of life.
Science Behind Resuscitation
Resuscitation is a critical medical intervention aimed at restoring spontaneous circulation and breathing in individuals experiencing cardiac arrest or respiratory failure. The science behind resuscitation involves a multifaceted approach, including prompt recognition of the emergency, initiation of cardiopulmonary resuscitation (CPR) to maintain blood circulation and oxygenation, defibrillation to correct life-threatening cardiac arrhythmias, and advanced life support interventions such as airway management and medication administration. Key principles underlying successful resuscitation include early access to care, high-quality CPR, effective teamwork and communication among healthcare providers, and timely integration of advanced interventions based on the latest evidence-based guidelines. The ultimate goal of resuscitation is to improve the chances of survival with good neurological outcomes for patients in cardiac or respiratory arrest.
Case Scenario: Role of Point Care Ultrasound in NICU
Point-of-care ultrasound in the NICU allows for early diagnosis of various conditions such as respiratory distress, intraventricular hemorrhage, and congenital heart defects, aiding in timely interventions. POCUS enables real-time bedside monitoring of neonatal patients, providing immediate feedback on cardiac function, lung status, and fluid balance without the need for transportation to a separate imaging facility. Unlike traditional imaging modalities such as X-rays and CT scans, POCUS uses ultrasound waves that do not involve ionizing radiation, making it safer for frequent use in critically ill neonates. POCUS helps assess hemodynamics, including cardiac output, systemic and pulmonary blood flow, and evaluation of ductus arteriosus patency, guiding treatment decisions in hemodynamically unstable infants. Lung ultrasound provides rapid assessment of lung aeration and helps differentiate between different lung pathologies, aiding in the management of respiratory distress syndrome and other respiratory conditions. POCUS devices are portable and easy to use at the bedside, allowing neonatologists and intensivists to obtain immediate diagnostic information during rounds or emergent situations.
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Dr. Umashankar's Talks on Assimilate
- 22nd-May-2023, TIME : 5:00PM - 6:00PM
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Rare diseases are often difficult to identify because they affect a small percentage of the population. Public health professionals play an important role in identifying rare diseases. Early identification of rare diseases can lead to better treatment outcomes. Rare diseases may have a genetic component. Public health professionals can use surveillance systems to identify rare diseases. Collaboration with healthcare providers is important in identifying rare diseases. Rare diseases may present with unusual symptoms. Public health professionals can use screening programs to identify rare diseases. Genetic testing can be used to identify rare diseases. Rare diseases may be misdiagnosed as more common conditions.Public health professionals should be aware of the prevalence of rare diseases in their population. Public health professionals can use electronic health records to identify cases of rare diseases. Rare diseases may have a familial pattern of inheritance.