ITEMS IN AFP WITH MESH TERM:
Noonan Syndrome - Article
ABSTRACT: Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome–specific growth charts and treatment guidelines are available.
Evaluation of the Patient with Hip Pain - Article
ABSTRACT: Hip pain is a common and disabling condition that affects patients of all ages. The differential diagnosis of hip pain is broad, presenting a diagnostic challenge. Patients often express that their hip pain is localized to one of three anatomic regions: the anterior hip and groin, the posterior hip and buttock, or the lateral hip. Anterior hip and groin pain is commonly associated with intra-articular pathology, such as osteoarthritis and hip labral tears. Posterior hip pain is associated with piriformis syndrome, sacroiliac joint dysfunction, lumbar radiculopathy, and less commonly ischiofemoral impingement and vascular claudication. Lateral hip pain occurs with greater trochanteric pain syndrome. Clinical examination tests, although helpful, are not highly sensitive or specific for most diagnoses; however, a rational approach to the hip examination can be used. Radiography should be performed if acute fracture, dislocations, or stress fractures are suspected. Initial plain radiography of the hip should include an anteroposterior view of the pelvis and frog-leg lateral view of the symptomatic hip. Magnetic resonance imaging should be performed if the history and plain radiograph results are not diagnostic. Magnetic resonance imaging is valuable for the detection of occult traumatic fractures, stress fractures, and osteonecrosis of the femoral head. Magnetic resonance arthrography is the diagnostic test of choice for labral tears.
Acute Diarrhea in Adults - Article
ABSTRACT: Acute diarrhea in adults is a common problem encountered by family physicians. The most common etiology is viral gastroenteritis, a self-limited disease. Increases in travel, comorbidities, and foodborne illness lead to more bacteria-related cases of acute diarrhea. A history and physical examination evaluating for risk factors and signs of inflammatory diarrhea and/or severe dehydration can direct any needed testing and treatment. Most patients do not require laboratory workup, and routine stool cultures are not recommended. Treatment focuses on preventing and treating dehydration. Diagnostic investigation should be reserved for patients with severe dehydration or illness, persistent fever, bloody stool, or immunosuppression, and for cases of suspected nosocomial infection or outbreak. Oral rehydration therapy with early refeeding is the preferred treatment for dehydration. Antimotility agents should be avoided in patients with bloody diarrhea, but loperamide/simethicone may improve symptoms in patients with watery diarrhea. Probiotic use may shorten the duration of illness. When used appropriately, antibiotics are effective in the treatment of shigellosis, campylobacteriosis, Clostridium difficile, traveler’s diarrhea, and protozoal infections. Prevention of acute diarrhea is promoted through adequate hand washing, safe food preparation, access to clean water, and vaccinations.
An Annular Rash - Photo Quiz
The Hospice Referral - Curbside Consultation
ABSTRACT: Unintentional weight loss in persons older than 65 years is associated with increased morbidity and mortality. The most common etiologies are malignancy, nonmalignant gastrointestinal disease, and psychiatric conditions. Overall, nonmalignant diseases are more common causes of unintentional weight loss in this population than malignancy. Medication use and polypharmacy can interfere with taste or cause nausea and should not be overlooked. Social factors may contribute to unintentional weight loss. A readily identifiable cause is not found in 16% to 28% of cases. Recommended tests include a complete blood count, basic metabolic panel, liver function tests, thyroid function tests, C-reactive protein levels, erythrocyte sedimentation rate, glucose measurement, lactate dehydrogenase measurement, and urinalysis. Chest radiography and fecal occult blood testing should be performed. Abdominal ultrasonography may also be considered. When baseline evaluation is unremarkable, a three- to six-month observation period is justified. Treatment focuses on the underlying cause. Nutritional supplements and flavor enhancers, and dietary modification that takes into account patient preferences and chewing or swallowing disabilities may be considered. Appetite stimulants may increase weight but have serious adverse effects and no evidence of decreased mortality.
Complex Care: Treating an Older Patient with Multiple Comorbidities - Curbside Consultation
ABSTRACT: Elder mistreatment includes intentional or neglectful acts by a caregiver or trusted person that harm a vulnerable older person. It can occur in a variety of settings. One out of 10 older adults experiences some form of abuse or neglect by a caregiver each year, and the incidence is expected to increase. Although the U.S. Preventive Services Task Force found insufficient evidence that screening for elder abuse reduces harm, physicians in most states have professional and legal obligations to appropriately diagnose, report, and refer persons who have been abused. Screening or systematic inquiry can detect abuse. A detailed medical evaluation of patients suspected of being abused is necessary because medical and psychiatric conditions can mimic abuse. Signs of abuse may include specific patterns of injury. Interviewing patients and caregivers separately is helpful. Evaluation for possible abuse should include assessment of cognitive function. The Elder Abuse Suspicion Index is validated to screen for abuse in cognitively intact patients. A more detailed two-step process is used to screen patients with cognitive impairment. The National Center on Elder Abuse website provides detailed, state-specific reporting and resource information for family physicians.
A Swollen Thumb - Photo Quiz