Sleep Disorders

This newborn has Cornelia de Lange syndrome, a disorder characterized by prenatal growth retardation (this child weighed 2240 g at birth and measured 46 cm in length), microbrachycephaly, bushy eyebrows, long eyelashes, short neck, low posterior hair line, depressed nasal bridge, anteverted nares, long philtrum, thin upper lip, downturned corners of mouth, micrognathia, a single umbilical artery, phocomelia, micromelia, and oligodactyly.

This neonate was born with a high arched and cleft palate and a small jaw-the result of Pierre Robin syndrome, an autosomal recessive disorder also characterized by micrognathia and pseudomacroglossia.

This 20-month-old girl was born to a 28-year-old mother at 38 weeks' gestation. The pregnancy was uncomplicated, and vaginal delivery was normal. The infant sat with support at 10 months of age, sat without support at 12 months, crawled at 13 months, and walked at 18 months. She had not yet begun to talk at 20 months. The child was noted to have frequent laughing episodes and often made flapping movements with her hands.

An obese 61-year-old man who had chronic obstructive pulmonary disease and sleep apnea heard a “pop” in his stomach while lifting a heavy weight; severe abdominal pain followed. He was short of breath the next morning, and his physician empirically prescribed cephalexin.

A 67-year-old woman was referred for evaluation of exertional dyspnea, with multiple episodes of fever, cough, and pneumonia. She had a long history of cough with sputum and had been admitted several times for exacerbations of chronic obstructive pulmonary disease and pneumonia. She received maintenance therapy with an ipratropium and albuterol combination, fluticasone, and salmeterol, but she continued to experience exertional dyspnea, with an average of 5 or 6 exacerbations and 2 hospital admissions a year.

56-year-old woman presents for evaluation of several syncopal episodes that occurred during the past 2 weeks. These episodes were associated with various activities--eating while seated, walking slowly, and standing upright--and rendered her briefly unconscious.

A 55-year-old man complains of fatigue. Although he sleeps 8 hours every night, he has to push himself to perform his usual daily activities. He has also experienced loss of libido and episodic impotence, which he ascribes to the fatigue.

Advances in the understanding of multiple sclerosis (MS) have translated into aggressive treatment regimens that enhance patients' quality of life. In this article, we discuss the therapeutic options, especially treatments that are directed toward the underlying immunologic mechanisms of the disease. Because of its direct effect on quality of life, aggressive management of symptoms is emphasized.

How to lessen insomnia during a sleep study.

An 82-year-old woman complains that for the past 6 months, she has "not felt like herself." Previously, she was very active and energetic; in fact, 9 months earlier, she had vacationed in Hawaii. It now takes all of her energy just to get out of bed.

Confounding Factors in Treatment-Resistant Depression (Part 1): The Role of Subtyping and Bipolarity Michael I. Casher, MD, Daniel Gih, MD, Joshua D. Bess, MD, and Prachi Agarwala, MD

Abstract: The standard therapies for acute exacerbations of chronic obstructive pulmonary disease include short-acting bronchodilators, supplemental oxygen, and systemic corticosteroids. For most patients, an oxygen saturation goal of 90% or greater is appropriate. Bilevel positive airway pressure (BiPAP) is usually beneficial in patients with progressive respiratory acidosis, impending respiratory failure, or markedly increased work of breathing. However, BiPAP should not be used in patients with respiratory failure associated with severe pneumonia, acute respiratory distress syndrome, or sepsis. Systemic corticosteroids are appropriate for moderate to severe acute exacerbations; many experts recommend relatively low doses of prednisone (30 to 40 mg) for 7 to 14 days. Antibiotic therapy is controversial, but evidence supports the use of antibiotics in patients who have at least 2 of the following symptoms: increased dyspnea, increased sputum production, and sputum purulence. (J Respir Dis. 2005;26(8):335-341)

ABSTRACT: The management of chronic daily headache is difficult and complex. Those affected have a sensitive nervous system, and their predisposition for a low tolerance to sensory stimuli appears to be inherited. Under appropriate conditions, the equilibrium or balance between bombardment from painful stimuli and the regulatory systems that inhibit those stimuli is disrupted, allowing painful stimuli to become manifest at a greater intensity than in the nonmigraineur. Successful management depends on close adherence to nonpharmacologic approaches and pharmacologic regimens that desensitize the system and restore equilibrium. Comorbid conditions must be identified and treated as well.

Abstract: Although excessive daytime sleepiness is most often simply the result of inadequate sleep, other causes must be considered as well. Common causes of daytime sleepiness include obstructive sleep apnea/hypopnea syndrome (OSAHS) and medication side effects. The differential diagnosis also includes narcolepsy and restless legs syndrome (RLS). In many cases, the answers to a few simple questions can provide the necessary clues to the diagnosis. Loud snoring is associated with OSAHS, while sudden muscle weakness triggered by intense emotion is consistent with narcolepsy. Referral for sleep evaluation is indicated to evaluate for OSAHS, narcolepsy, RLS, and idiopathic hypersomnia. Methods of measuring daytime sleepiness include the Multiple Sleep Latency Test and the Epworth Sleepiness Scale. (J Respir Dis. 2005;26(6):253-259)

Over the past 5 to 10 years, there has been an increasing incidence of synthetic club drug use that has quietly permeated the adolescent and young adult culture. This review of MDMA, also known as Ecstasy, ketamine, GHB, and methamphetamine, provides a basic introduction to help practitioners get up to speed.

Severe obstructive sleep apnea- hypopnea syndrome (OSAHS) increases the risk of cardiovascular events in men, according to a large, prospective, controlled study by Marin and associates. Fortunately, this study also demonstrated that treatment with nasal continuous positive airway pressure (CPAP) reduces this risk.

Most of the symptoms of allergic rhinitis, including nasal obstruction, rhinorrhea, sneezing, and nasal itching, respond to intranasal corticosteroids administered once or twice daily. However, many patients also need to take an antihistamine for adequate control of symptoms. While an antihistamine/decongestant combination can provide symptomatic relief, it fails to address the inflammatory component of allergic rhinitis. Thus, combining an intranasal corticosteroid or oral leukotriene modifier with an antihistamine might be a more effective strategy. Factors that can facilitate treatment adherence include minimizing the number of daily doses, allowing patients to select their own dosing schedules, and providing written instructions. Specific immunotherapy can be beneficial in select patients whose allergic rhinitis symptoms are not sufficiently controlled by pharmacotherapy. (J Respir Dis. 2005;26(5):188-194)

A 65-year-old woman with well-controlled hypertension comes in for a routine checkup. During the past 10 years, she has gained 25 lb and lost 1.5 inches in height.

Excessive sweating may be caused by a variety of conditions or prescription drugs.

Abstract: In most patients, a life-threatening exacerbation of asthma is preceded by a gradual worsening of symptoms. However, some patients have a sudden onset of worsening symptoms, and these patients are at increased risk for respiratory failure and death. Risk factors for near-fatal asthma include a history of a life-threatening exacerbation, hospitalization for asthma within the past year, delay in time to evaluation after the onset of symptoms, and a history of psychosocial problems. Regularly monitoring peak expiratory flow rate (PEFR) is particularly important because it can identify a subset of high-risk patients--specifically, those with large fluctuations in PEFR and those who have severe obstruction but minimal symptoms. Signs of life-threatening asthma include inability to lie supine, difficulty in speaking in full sentences, diaphoresis, sternocleidomastoid muscle retraction, tachycardia, and tachypnea. (J Respir Dis. 2005;26(5):201-207)

A 68-year-old man presents to the emergency department with diplopia and headache of acute onset accompanied by nausea and vomiting.

How important is control of obesity in the treatment of hypertension?

What steps can older patients take now to improve their health and quality of life and maintain their independence?

A 67-year-old man presented for evaluation of atrophy of the left thenar eminence that had developed within the past 2 weeks. He denied hand weakness. The patient had had symptoms of bilateral carpal tunnel syndrome for more than 12 years. His main symptom was numbness of the fingertips, which made buttoning his shirt and pants pocket difficult. He also had difficulty with fine manipulation, such as picking up paper clips.

A 23-year-old man presents to theemergency department (ED) withacute chest discomfort, which startedin the morning. He describes the discomfortas more akin to palpitationsthan to actual pain. The discomfortis midsternal, nonradiating, nonpleuritic,and associated with dyspnea; itis neither exertional nor positional.There is no viral prodrome.

A 67-year-old man presented for evaluation of atrophy of the left thenar eminence that had developed within the past 2 weeks. He denied hand weakness. The patient had had symptoms of bilateral carpal tunnel syndrome for more than 12 years. His main symptom was numbness of the fingertips, which made buttoning his shirt and pants pocket difficult. He also had difficulty with fine manipulation, such as picking up paper clips.

ABSTRACT: First steps in the treatment of irritable bowel syndrome (IBS) are dietary modification, smoking cessation, and other lifestyle changes. Treatment of mild symptoms includes increased soluble dietary fiber and osmotic laxatives for constipation, antispasmodics for cramping, and over-the-counter antidiarrheals. For moderate disease, serotonergic agents work primarily in the intestine to relieve the global symptoms of IBS. Alosetron decreases gut motility and visceral sensitivity in women with chronic, severe diarrhea-predominant IBS who have not responded to conventional therapies. Tegaserod relieves pain, bloating, and constipation in women with constipation-predominant IBS. Psychotherapy, hypnotherapy, biofeedback, and other nonpharmacologic modalities may also be helpful for patients with IBS. Antidepressants are reserved for refractory symptoms; they can be combined with other modalities if needed.

ABSTRACT: The complexities of chronic nonmalignant pain and the contributions of psychosocial and environmental factors require assessment and treatment strategies that may go far beyond the use of analgesics. The first step is to rule out serious underlying conditions; determine the chronicity, quality, location, and intensity of the pain; assess aggravating environmental factors; and evaluate the patient's level of functioning. The pharmacologic regimen may include oral or topical analgesics, antidepressants, muscle relaxants, nerve stabilizers, and/or opioids. A comprehensive plan includes alternative modalities, such as physical and occupational therapy, stress management, relaxation techniques, and the treatment of comorbid conditions, including anxiety, depression, and sleep disorders. The optimal opioid regimen consists of methadone or a sustained-release opioid combined with a short-acting opioid for breakthrough pain.

ABSTRACT: The cardinal feature of irritable bowel syndrome (IBS) is abdominal pain or discomfort associated with altered bowel habits. Because no serologic marker or structural abnormality exists, the diagnosis is based on clinical findings. A systematic symptom-based approach, including the Rome II criteria, ensures diagnostic accuracy. Determine whether a specific event-such as gastroenteritis, antibiotic use, or a food-borne illness-precipitated the IBS symptoms. Be alert for warning signs of cancer, infection, or inflammatory bowel disease, such as fever or unexplained weight loss. Only minimal laboratory testing is required; however, further evaluation may be warranted if a patient does not respond to treatment or loses weight, if the dominant symptom changes, or if other "red flags" are identified.

ABSTRACT: Prompt treatment of herpes zoster with an antiviral such as acyclovir does not prevent post-herpetic neuralgia, but it can reduce the pain and duration of the disorder, particularly in older patients. Agents used to treat post-herpetic neuralgia include gabapentin, tricyclic antidepressants, lidocaine patches, capsaicin, and opioids. Effective treatment often requires the use of multiple medications. When you select a regimen, consider whether your patient is at heightened risk for adverse drug effects and whether he or she has comorbid disorders, such as depression, that might be amenable to treatment with the same medication used for post-herpetic neuralgia. Patients with intense pain and dysfunction are more likely to have a protracted disease course; early, aggressive intervention is warranted in this setting. For patients who continue to have disabling pain despite treatment, consider intrathecal corticosteroid or lidocaine injections or referral to a pain management center or specialist.