Diagnostic and therapeutic approach to coexistent chronic obstructive pulmonary disease and obstructive sleep apnea

The high prevalence of both obstructive sleep apnea (OSA) and chronic obstructive pulmonary disease (COPD) in Western societies is well documented. However, OSA frequently remains unrecognized and untreated among patients with COPD. Patients with both conditions have a greater risk for fatal and nonfatal cardiovascular events compared with patients with COPD or OSA alone. Efficacious treatment with continuous positive airway pressure reduces the risk of cardiovascular complications in patients with OSA. The aim of the present review is to discuss the diagnostic approach to patients with both conditions and to delineate the benefits of timely recognition and treatment of OSA in patients with COPD.     

Diagnostic and therapeutic approach to axillary-subclavian vein thrombosis

We report the cases of four patients who complained of post-exertional shoulder and/or arm discomfort, and who were diagnosed with acute or possible impending axillary-subclavian vein thrombosis. One regained full patency of a stenotic and obstructed vein after local streptokinase infusion, first rib surgical resection, and transvenous angioplasty. A second with a patent but narrowed and tented vein was treated with heat and elevation, and was referred for possible surgical correction of thoracic outlet syndrome. The third patient, who presented two weeks after the thrombotic event, experienced a poor clinical outcome characterized by recurrent thrombosis despite aggressive therapy. The fourth, whose thrombosis was the presenting sign of mediastinal lymphoma, was treated with heat and elevation with resolution of pain and swelling.     

Diagnostic and therapeutic approach to patients with gastroparesis

Gastroparesis is a chronic alteration of gastric motility characterized by symptoms suggestive of mechanical obstruction and delayed gastric emptying in the absence of obstruction. Gastroparesis can be idiopathic or attributable to neuropathy or myopathy as in diabetes mellitus and scleroderma or can occur after vagotomy. Diagnosis is based on symptoms (nausea, vomiting, abdominal distension and early satiety), physical examination (capotement) and on complementary investigations, the procedure of choice being isotope gastric emptying tests. Treatment depends on the clinical repercussions. In most patients, gastroparesis can be controlled by prokinetic drugs, dietary measures, exclusion of drugs that alter gastric emptying, and exhaustive control of blood glucose levels. In patients with severe gastroparesis, hospital nutritional measures (intravenous and/or enteral), gastric decompression and intravenous antiemetic and prokinetic agents are required. Aggressive nutritional therapies (parenteral or enteral nasojejunal nutrition), intrapyloric injection of botulinum toxin, implantation of a gastric stimulation device, or gastrectomy should only be used in patients unresponsive to conservative treatment or if there is selective alteration of gastric motility.     

Diagnostic and therapeutic approach to acute decompensated heart failure

Heart failure afflicts large numbers of patients and is the leading cause for hospitalizations in the United States. Diagnosis and management of decompensated heart failure present a clinical challenge, requiring complex decision-making. History and physical examination findings are important in the diagnosis of heart failure. Diagnostically, B-type natriuretic peptide levels appear very useful to separate cardiac from noncardiac causes of dyspnea and provide information about heart failure severity and prognosis. Immediate management goals include improvement of symptoms and hemodynamic parameters. Diuretics, vasodilators, and inotropic agents are useful in the acute setting. This article provides a systematic approach to the diagnosis and management of acute decompensated heart failure.     

Diagnostic and therapeutic approach to cholestatic liver disease.

When cholestatic liver disease is present, liver ultrasound should be performed to ascertain if cholestasis is extrahepatic or intrahepatic. If bile ducts appear dilated and the probability of interventional treatment is high, endoscopic retrograde cholagio-pancreatography (ERCP) or trans-hepatic cholangiography (THC) should be the next step. If the probability of interventional therapeutics is low, cholangio-MRI should be performed. Once bile duct dilation and space occupying lesions are excluded, a work up for intrahepatic cholestasis should be started. Some specific clinical situations may be helpful in the diagnostic strategy. If cholestasis occurs in the elderly, drug-induced cholestatic disease should be suspected, whereas if it occurs in young people with risk factors, cholestatic viral hepatitis is the most likely diagnosis. During the first trimester of pregnancy cholestasis may occur in hyperemesis gravidorum, and in the third trimester of gestation cholestasis of pregnancy should be suspected. A familial history of recurrent cholestasis points to benign recurrent intrahepatic cholestasis. The occurrence of intrahepatic cholestasis in a middle-aged woman is a frequent presentation of primary biliary cirrhosis, whereas primary sclerosing cholangitis should be suspected in young males with inflammatory bowel disease. The presence of vascular spider nevi, ascites, and a history of alcohol abuse should point to alcoholic hepatitis. Neonatal cholestasis syndromes include CMV, toxoplasma and rubinfections or metabolic defects such as cystic fibrosis, alpha1-antitrypsin deficiency, bile acid synthesis defects, or biliary atresia. The treatment of cholestasis should include a management of complications such as pruritus, osteopenia and correction of fat soluble vitamin deficiencies. When hepatocellular failure or portal hypertension-related complications occur, liver transplantation should be considered.     

Diagnostic and therapeutic approach to hepatocellular carcinoma in the USA

It is now apparent that hepatocellular carcinoma is occurring with increasing frequency in the USA. This mirrors a trend that occurred in Japan approximately 10 years earlier. Although the approach to diagnosis and treatment are similar in Japan and the USA, there are some differences. Thus, imaging is the primary modality of diagnosis and computed tomography and magnetic resonance imaging are favored over ultrasound. Liver transplantation is an important modality oftherapy, which is associated with excellent survival and, with the introduction of the Model for End-Stage Liver Disease (MELD) system, there has been a sharp rise in liver transplants performed for hepatocellular carcinoma since 2002.     

Diagnostic and therapeutic approach of systemic amyloidosis

Amyloidosis is a group of diseases, all characterised by deposition of protein fibrils with a beta-sheet structure. This structure generates affinity of amyloid for Congo red dye and is resistant to proteolysis. Three types of systemic amyloidosis are important for the clinician: AA (related to underlying chronic inflammation), AL (related to underlying monoclonal light chain production) and ATTR amyloidosis (related to old age or underlying hereditary mutations of transthyretin). Signs and symptoms vary considerably among the three types and the choice of treatment differs completely. A stepwise approach in diagnosis and therapy is presented. When amyloidosis is suspected the first step is histological proof of amyloid and the second is proof of systemic involvement. The next two steps are determination of the type of amyloid followed by detection of the precursor protein. The fifth step is a thoughtful clinical evaluation, necessary for assessment of prognosis and therapy. Subsequently, the choice of therapy is based on the 'precursor-product' concept. In the final step, the effects of therapy on the underlying disease as well as on the amyloidosis are assessed during follow-up. In this evaluation serum amyloid P component (SAP) scintigraphy helps to show organ involvement and therapy response.     

Peutz-Jeghers syndrome： Diagnostic and therapeutic approach

Peutz-Jeghers syndrome (PJS) is an inherited, autosomal dominant disorder distinguished by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous lesions.Prevalence of PJS is estimated from 1 in 8300 to 1 in 280 000 individuals.PJS predisposes sufferers to various malignancies (gastrointestinal, pancreatic, lung, breast, uterine, ovarian and testicular tumors).Bleeding, obstruction and intussusception are common complications in patients with PJS.Double balloon enteroscopy (DBE) allows examination and treatment of the small bowel.Polypectomy using DBE may obviate the need for repeated urgent operations and small bowel resection that leads to short bowel syndrome.Prophylaxis and polypectomy of the entire small bowel is the gold standard in PJS patients.Intraoperative enteroscopy (IOE) was the only possibility for endoscopic treatment of patients with PJS before the DBE era.Both DBE and IOE facilitate exploration and treatment of the small intestine.DBE is less invasive and more convenient for the patient.Both procedures are generally safe and useful.An overall recommendation for PJS patients includes not only gastrointestinal multiple polyp resolution, but also regular lifelong cancer screening (colonoscopy, upper endoscopy, computed tomography, magnetic resonance imaging or ultrasound of the pancreas, chest X-ray, mammography and pelvic examination with ultrasound in women, and testicular examination in men).Although the incidence of PJS is low, it is important for clinicians to recognize these disorders to prevent morbidity and mortality in these patients, and to perform presymptomatic testing in the first-degree relatives of PJS patients.     

Systemic sclerosis and the gastrointestinal tract. Diagnostic and therapeutic approach

In systemic sclerosis esophagus is affected in 90% followed by anal and rectal involvement (50-70%), stomach (40-70%), colon (10-50%) and small bowel (40%). The main clinical findings are esophagic: dysphagia and sign of gastroesophageal reflux and its complications. Gastric symptomatology is a consequence of gastroparesis (postprandial fullness, nausea). Intestinal affection produces hypomotility (abdominal distention, deficient intestinal absorption, bacterial overgrowth). In colon there are diverticula, intestinal constipation, and fecal incontinence. For the diagnosis of GIT involvement the following are useful: studies of digestive tract with contrast media, endoscopy of upper GIT; gastric emptying; pH metry; esophageal and rectal manometry, as well as test to investigate deficient intestinal absorption syndrome. The prokinetic are a cornerstone for the treatment of hypomotility of GIT, along with pump proton inhibitors for the esophageal alteration and antibiotics for bacterial overgrowth.     

Villous adenoma of the appendix. Diagnostic and therapeutic approach.

Appendix villous adenoma is a rare pathological entity that shows a particular form of clinical presentation that is different from villous adenomas in other places along the gastrointestinal tract. PATIENTS AND METHODS: We reviewed cases of appendix villous adenoma diagnosed in our hospital during the last five years; we studied age, distribution, sex, clinical presentation, diagnostic methods used, treatment and follow-up of patients. RESULTS: We diagnosed 6 cases of villous adenoma of the appendix, acute appendicitis being the most common form of clinical presentation. Treatment was appendectomy in two cases, right hemicolectomy in two patients, subtotal colectomy in one case, and Hartmann's technique with appendectomy in one more case. CONCLUSIONS: We consider appendectomy the treatment of choice when no malignant degeneration is present in the adenoma and invasion of surgical resection borders is absent.     

Diagnostic approach to dyspepsia

The optimal diagnostic approach to the dyspeptic patient in primary care is still debated. Early endoscopy continues to be the diagnostic gold standard but competing non-invasive strategies challenge this. The most important approaches are empiric antisecretory treatment reserving endoscopy for unresponsive patients and patients with an early symptomatic relapse and helicobacter-based strategies reserving endoscopy for infected patients (test-and-scope) or for failures after eradication therapy (test-and-treat). Early endoscopy is recommended in patients with alarm features and should be considered in patients with new onset dyspepsia after age 50. In the remaining patients, early investigation can only be recommended in areas providing endoscopy at a low cost and with a short waiting list. The test-and-scope strategy may lead to a rise in the referral rates for endoscopy and cannot be recommended. The test-and-treat strategy is well documented in clinical trials as a safe and cost-effective approach. Helicobacter-based strategies are challenged by a decreasing prevalence of peptic ulcer disease and of the infection. In the near future, the empirical acid inhibition strategy will probably be cost-effective as gastro-oesophageal reflux becomes the predominant disorder in dyspeptic patients.     

Diagnostic approach to IBD

Inflammatory bowel disease, with Crohn's disease and ulcerative colitis as the two main disorders, is a heterogeneous group of disorders of unknown etiology. Clinical initial presentation is sometimes misleading and causing diagnostic delay which may be important. Identification of subgroups of patients on the basis of genetic, immunologic and clinical markers will be important for exact diagnosis, but also for new drug trials. The current diagnosis depends on clinical, radiographic, endoscopic and laboratory data. The introduction of serological markers such as pANCA and ASCA will allow an increase in the diagnostic accuracy at initial diagnosis of inflammatory bowel disease and may play a role in defining subgroups of the disease.     

Diagnostic approach to hemoglobinopathies

Abnormalities of hemoglobin (Hb) synthesis are among the most common inherited disorders of man and can be quantitative (thalassemia syndromes) or qualitative (variant Hbs). Definite identification of hemoglobinopathies can be achieved by a stepwise algorithmic approach, starting with a detailed clinical history, through hematologic evaluation [complete blood count (CBC)], reticulocyte count, red blood cell (RBC) morphology], protein based analytic methods [Hb electrophoresis or isoelectric focusing (IEF), cation exchange high performance liquid chromatography (HPLC), reversed phase HPLC] to nucleic acid based methods [such as polymerase chain reaction (PCR), reverse transcribed (RT)-PCR, sequencing of genomic DNA and sequencing of RT-PCR amplified globin cDNA of the gene of interest]. When an abnormality of Hb function (increased or decreased oxygen affinity) or stability (unstable Hb variants) is suspected from the phenotype, special confirmatory tests (determination of p50, Heinz body prep and isopropanol or heat stability tests) can be useful. Family studies are also helpful in certain cases. A review of the application of these methods to the diagnosis of hemoglobinopathies at the Sickle Cell Center Laboratory in Augusta, GA, USA, is presented below.     

Diagnostic approach to ischemic colitis

Ischemic colitis is the most frequent form of intestinal ischemia and arises when the colon is temporarily deprived of blood supply. Diagnosis of this entity requires a high index of clinical suspicion. To achieve this, the chronology of the symptoms (abdominal pain followed by defecatory urgency and rectorrhagia) and the clinical context in which these symptoms appear (> 90% affect persons especially at risk for vascular accidents) must be taken into account. Although diagnosis requires early colonoscopy (< 48 h), this procedure should not be performed if peritonitis is present. In severe forms, other imaging techniques, such as Doppler ultrasound or abdominal computed tomography, provide information with diagnostic -and even prognostic- value. Angiography is reserved for patients in whom there is doubt about the presence of acute mesenteric ischemia. Thrombophilia should be investigated in persons aged less than 60 years old.     

Diagnostic approach to pulmonary lymphangioleiomyomatosis

Abstract. Pulmonary lymphangioleiomyomatosis is an interstitial lung disease with distinctive clinical, radio-logic, physiological and pathological findings. We report an additional case of this rare condition, diagnosed on first medical evaluation by trans-bronchial lung biopsy and discuss the diagnostic approach.