Truncus arteriosus communis. Unusual case associated with transposition

A child with truncus arteriosus communis, characterized by the posterior origin of an individualized pulmonary trunk is presented. This relationship between the great arteries is unusual in truncus arteriosus communis and the spatial orientation resembles that seen in transposition of the great vessels. A brief discussion is proposed about a proper terminology in this type of complex anomaly.     

Truncus arteriosus with patent ductus arteriosus and normal aortic arch

In hearts with a common arterial trunk (truncus arteriosus), there is almost always an inverse development of the aortic arch and the ductus arteriosus. Truncus with a normal aortic arch and a patent ductus is a rare echocardiographic and surgical finding. In this report, we describe 2 neonates in whom truncus arteriosus with a normal aortic arch and a medium or large patent ductus was diagnosed by preoperative echocardiography (without catheterization) and confirmed intraoperatively.     

Clinical and pathologic findings in hemochromatosis hip arthropathy

During a 9-year period, 15 patients with hemochromatosis hip arthropathy required 19 total hip arthroplasties for disabling hip pain. Preoperative presentation, hip function, pathologic evaluation of the femoral head, and radiographic findings were reviewed. Postoperative followup averaging 5.7 years (range, 2-11 years) was performed to assess hip pain and function after total hip arthroplasty. The average preoperative Hospital for Special Surgery hip score was 15 points (range, 4-24 points), and this improved to 30 points (range, 4-38 points) after total hip arthroplasty. Only one of 15 patients required revision surgery at 10 years for acetabular loosening. All other patients were pain free, with improved function at latest followup. Histologic evaluation of the resected femoral heads revealed evidence of primary or secondary osteonecrosis in seven of 19 (37%) specimens. Articular cartilage avulsion at the level of the tidemark was identified in eight of 19 (42%) specimens, and calcium pyrophosphate deposition was identified in five of 19 (26%) specimens. These pathologic findings suggest a predictable progression of the arthritic process in patients with hemochromatosis.     

Pulmonary carcinosarcoma: radiologic and pathologic findings in three patients

OBJECTIVE: The purpose of this study was to describe the radiologic and pathologic features of pulmonary carcinosarcoma in three patients. CONCLUSION: The tumors measured 9-14 cm in diameter, had inhomogeneous contrast enhancement, and in two cases had invaded the mediastinum or chest wall extensively. Carcinosarcomas are rare tumors that tend to be large, necrotic, enhancing, and locally invasive.     

Invasive pulmonary aspergillosis in AIDS: radiographic, CT, and pathologic findings

PURPOSE: To review the radiographic and computed tomographic (CT) manifestations of invasive pulmonary aspergillosis and to correlate the imaging and pathologic findings in patients with acquired immunodeficiency syndrome (AIDS). MATERIALS AND METHODS: Chest radiographs, CT scans, and pathologic specimens were reviewed retrospectively in 10 AIDS patients with proved invasive pulmonary aspergillosis. RESULTS: The most common radiographic finding was the presence of thick-walled cavitary lesions. Less common findings included nodules, consolidation, and pleural effusion. CT depicted more nodules and cavities than did radiography. The predominant pathologic abnormalities consisted of tissue invasion and abscess formation and angioinvasion with or without infarction. All patients had infection with Aspergillus fumigatus as well as other pathogens, the most common being cytomegalovirus and Pseudomonas aeruginosa. CONCLUSION: Thick-walled cavitary lesions are the most common radiologic manifestation of invasive pulmonary aspergillosis in AIDS. The findings are more numerous and better defined on CT scans. The radiologic findings reflect a spectrum of pathologic abnormalities.     

Histopathologic changes in the kidneys in patients with asymtomatic pathologic findings in urine

Ion-transporting ATPases (pumps) hydrolyze ATP to maintain ion gradients across cell membranes. A presupposition for the maintenance of the gradients is that the ionophore of the pump that conducts the ions is accessible only from one of the two surfaces of the plasma membrane at any given time. Thus, a characteristic feature of pumps is an occluded state of the transported ions, whereas ion channels upon stimulation remain open at both ends and allow ions to flow through them down their chemical gradients. Recent experiments, however, provide evidence that a channel, simultaneously open on both sides of the plasma membrane, can also be formed within the mammalian sodium pump (Na+,K+-ATPase) upon its interaction with the marine toxin palytoxin, thus underlining common structural features shared by channels and pumps. This assumption is further supported by the demonstration of structural and functional homology between the extracellular loop of the sodium pump alpha subunit connecting the M7 and M8 transmembrane spans and the P-loops of Na+ channels. Possibly, pumps are simply channels that are able to be gated by ATP and its product phosphate.     

Colorectal cancer. Clinical and pathologic features

Despite an improved understanding of the pathogenesis of colorectal cancer and the technical ability to alter its natural history in a large proportion of average and high-risk patients, this cancer remains deadly. There has been no significant change in incidence or survival rates over the past 40 years. This indicates a continued need for earlier detection of polyps and cancers, aggressive surgery for the primary tumor, and improved multimodality treatment for metastatic disease.     

Functioning thyroid masses in childhood and adolescence. Clinical, surgical, and pathologic correlations

Six girls, aged 5 to 15 years, presented with thyroid masses in otherwise nonpalpable thyroid glands and with normal serum thyroxine levels. Scintiscanning before and after TSH stimulation confirmed the presence of autonomous nodules in the four adolescents, of whom two had elevated T3 levels. Surgical exploration revealed adenomatous thyroid hyperplasia in three of the girls and papillary adenocarcinoma in the fourth. Scans in the other two girls revealed absence of the left lobe. One of them proved to have agenesis of the left lobe with enlargement of the right lobe because of lymphocytic thyroiditis. The other girl had an ectopic thyroid with chronic inflammation. A thorough diagnostic evaluation of single or multiple functioning thyroid masses in children and adolescents is essential in establishing the correct diagnosis. The possibility that carcinoma can occur in autonomous nodules as well as in hemiagenesis and ectopic thyroid tissue is discussed. An approach to the management of functioning thyroid masses in the pediatric age group is proposed.     

Cardiovascular changes in a group of patients with heredoataxia. Clinical, electrocardiographic and echocardiographic findings

INTRODUCTION: Heredoataxias form a group of degenerative diseases of the nervous system, which are progressive and hand sound in particular families. MATERIAL AND METHODS: Between August 1994 and September 1995. 14 patients diagnosed as having heredoataxia were studied after admission to our hospital. Eight of these had Friedrich's ataxia (group A) and 6 had other types of ataxia (group B). A standard set of investigations were done, including clinical examination, laboratory tests (such as glycaemia and a lipidogram) to evaluate coronary risk factors. A 12 lead electrocardiogram and bidimensional and m mode echocardiogram were also done to detect disorders of conduction, changes in morphology and cardiac function, together with functional cardiovascular and neurological scales. The patients studied were between 14 and 41 years of age. RESULTS: The most frequent cardiovascular symptom was dyspnoea of effort. Changes on the electrocardiogram were seen in 92% of the patients, mainly from Group A (100%) and were due to alterations of ventricular repolarization and non-specific alterations of conduction and of rhythm. Echocardiogram changes were found in 42.8% of the patients, most frequently due to an increase in the myocardial mass of the left ventricle. CONCLUSIONS: Close correlation between age of onset and duration of the illness, and functional cardiovascular impairment was only seen in patients of Group A, in whom there was an earlier onset of the condition.     

CADASIL in a North American family: clinical, pathologic, and radiologic findings

Spoiled fast three-dimensional gradient-echo magnetic resonance imaging of the aorta and iliac arteries was performed in 13 patients after administration of a single bolus of gadopentetate dimeglumine. The imaging table was moved manually 40-45 cm between two acquisitions. Arterial signal-to-noise ratio did not vary significantly between the thoracic (aortic) and pelvic stations, but venous signal-to-noise ratios increased and arterial contrast-to-noise ratios decreased on the pelvic studies. This method was feasible and increased anatomic coverage.     

Hallervorden-Spatz disease: MR and pathologic findings

PURPOSE: To compare the MR findings of eight cases with clinical diagnosis of Hallervorden-Spatz disease (HSD) with the pathologic findings of two other cases of HSD. MATERIALS AND METHODS: The eight imaged cases were studied with 0.5-T (seven cases) and/or 1.5-T (five cases) units. Six patients also had CT scans. The two other cases with proven HSD had detailed histologic evaluation. RESULTS: The 1.5-T findings showed abnormalities confined to the pallidum, which presented a diffuse low signal intensity in T2-weighted images, and an anteromedial area of high signal intensity (eye-of-the-tiger sign). In 0.5-T studies, low signal intensity was less evident and poorly detectable in spin echo, but gradient-echo images could enhance its demonstration; the area of high signal intensity was always well demonstrated. In three cases (three with 1.5 T, one with 0.5 T) a central spot of low signal intensity was seen in this area. The pathologic cases, in addition to neuroaxonal swellings and iron deposits, exhibited areas of "loose" tissue with vacuolization and lesser amounts of iron in the anteromedial part of the pallidum, in a location corresponding to the area of high signal intensity of the imaged cases. CONCLUSION: Comparison of MR findings with the pathologic studies demonstrates that the low signal intensity in T2-weighted images at 1.5 T corresponds to iron deposits in a dense tissue, and that the high signal intensity of the eye-of-the-tiger sign corresponds to an area of loose tissue with vacuolization. No correlation was found in the two pathologic cases for the central spot of low signal intensity.     

Clinical and histologic findings in patients with renal amyloidosis

Renal amyloidosis is a rare disease when compared to other kidney diseases. During the period of last fifteen years, at the Institute of Nephrology and Immunology in Sarajevo renal amyloidosis was diagnosed with 15 patients. The disease occurred more often with men than with women. Only during 1988, renal amyloidosis was revealed and followed up with five patients. The most common clinical manifestations of renal amyloidosis are nephrotic syndrome and chronic renal failure, with respective laboratory findings. Using immunofluorescent analysis of the kidney biopsy material, we discovered deposits of immunoglobulins of different intensity and deposits of lambda and kappa light chains of immunoglobulins. The intensity of lambda light chains is greater than that of kappa chains. The analysis of light microscopy showed nodular mesangial deposits and deposits along GBM without proliferation. The diagnosis of amyloidosis was confirmed by staining of amyloid. Application of therapy for amyloidosis was without any effect. Although renal amyloidosis is a rare disease, we want to point out disease as being an etiologic factor in nephrotic syndrome.     

Predictors of intracranial pathologic findings in patients who seek emergency care because of headache

BACKGROUND: Clinical criteria to select patients with headache in whom structural diagnostic studies (computed tomography) have a high yield disclosing intracranial pathologic findings, independent of abnormal findings on neurologic examination, have not been defined. OBJECTIVE: To determine which clinical characteristics predict the presence of intracranial pathologic findings, independently of neurologic examination, in patients with headache. DESIGN: Case-control, consecutive sample. SETTING: Major metropolitan trauma center emergency department. PATIENTS AND MATERIALS: Hospital records of 139 hospitalized and 329 randomly selected patients from 1720 nonhospitalized adult patients, consecutively evaluated for headache in the emergency department, were reviewed. Demographic data, clinical characteristics of the headache, results of neurologic and physical examinations, and diagnostic radiologic and laboratory results were correlated with final diagnosis and outcome at 6 months after emergency department visit. DATA ANALYSIS: Nonparametric statistical analysis. RESULTS: Intracranial pathologic findings were found in 18 (3.8%) of 468 patients. Acute onset and occipitonuchal location of headache, presence of associated symptoms, and patient age of 55 years or older were significantly associated with the finding of intracranial pathology, independently of the findings from neurologic examination. Abnormal findings on neurologic examination alone, whether focal or nonfocal, had a highly significant association and a positive predictive value for intracranial pathology of 39%. CONCLUSIONS: Abnormal results from neurologic examination are the best clinical parameters to predict structural intracranial pathology; however, in patients 55 years or older with headache of acute onset located in the occipitonuchal region that has associated symptoms, computed tomographic scan of the head is justified as part of their clinical evaluation independently of the findings of the neurologic examination.     

Abdominal sonography in asymptomatic executives: prevalence of pathologic findings, potential benefits, and problems

Abdominal ultrasonography was performed on 1000 asymptomatic executives over a period of 6 months as part of a comprehensive health examination. The use of ultrasonography in these persons was evaluated with regard to the prevalence and variety of pathologic conditions detected as well as potential benefits, risks, and use as a screening tool. Significant sonographic diagnoses included renal cell carcinoma in four patients (0.4%) and abdominal aortic aneurysm in four patients (0.4%). Abdominal sonography performed on 7925 asymptomatic executives over a subsequent 2 1/2 year period led to detection of 23 (0.3%) additional renal cell carcinomas. The prevalence of renal cell carcinoma in this population is substantially greater than that of the general population. Abdominal sonography facilitates detection of occult renal neoplasms and aortic aneurysms. The cost effectiveness and potential use of sonography as a screening tool remains to be determined, however, given the relatively low overall prevalence of these pathologic conditions.     

Kindler syndrome. Clinical and ultrastructural findings

BACKGROUND: Kindler syndrome is a genodermatosis that combines clinical features of hereditary epidermolysis bullosa and poikiloderma congenitale. The ultrastructural level of blister formation has not been well characterized. OBSERVATIONS: Two brothers with Kindler syndrome had a history of primarily acral blistering since infancy as well as photosensitivity. Blister formation was found through the basal layer. Marked tonofilament clumping was found in intact keratinocytes adjacent to the blisters. The younger brother (aged 21 years) had actinic keratoses, which have not been previously described in Kindler syndrome. CONCLUSIONS: The findings of basal layer separation in both spontaneous and induced blisters in Kindler syndrome suggest this is the true level of blister formation. The finding of actinic keratoses in a young patient with Kindler syndrome suggests that some patients may be at increased risk for early solar-induced skin disease. The presence of clumped tonofilaments in keratinocytes adjacent to blistered areas suggests an abnormality of keratin 5 or 14 could be present and may play a role in blister formation in patients with Kindler syndrome.     

Clinical and echocardiographic findings in patients with suspected acute aortic dissection

OBJECTIVES: The objective of this study was to define the range of clinical presentations, echocardiographic findings, and underlying final diagnoses in patients with clinically suspected acute aortic dissection. METHODS AND RESULTS: This study was designed as a retrospective review of clinical and echocardiographic data in consecutive patients evaluated for clinically suspected acute aortic dissection. The study population consisted of 75 studies in 74 consecutive patients referred for urgent or emergency evaluation because of signs and symptoms suggesting acute aortic dissection. A history and physical examination designed to elicit the cause of chest pain, evidence of congestive heart failure, and other cardiovascular abnormalities was performed in each patient. All patients underwent transesophageal echocardiography by experienced operators. Routine 12-lead electrocardiograms and chest radiographs were available for review in the majority of patients. Magnetic resonance imaging or computed tomography was performed in only 5 (6%) and 34 (44%) patients, respectively. Contrast aortography was performed in 21 (27%) patients. For the entire patient cohort, the most prevalent symptom was chest pain alone (n = 31; 41%) or chest pain in conjunction with back pain (n = 23; 31%). Classic "tearing" pain was an infrequent symptom. Syncope or other neurologic findings were present in 15 (20%) patients. Acute aortic dissection was responsible for 34 (45%) of the 75 presentations, with 31 (41% of total evaluations, 92% of dissections) involving the ascending aorta (Stanford type A, DeBakey type 1 or 2). Alternate major cardiovascular diagnoses, including acute myocardial infarction, primary valvular disease, or pericardial disease, were established in 12 (16%) cases. Aortic pathology, other than dissection, was found in 15 (20%) cases. Transesophageal echocardiography established the diagnosis responsible for the symptoms in 61 (81%) cases. CONCLUSIONS: Symptoms in patients with acute aortic dissection are more variable than commonly recognized. Transesophageal echocardiography is an accurate primary diagnostic tool in patients with clinically suspected acute aortic dissection. It allows rapid diagnosis of dissection and can identify alternate cardiovascular pathology responsible for the symptoms in a significant number of patients without acute dissection.     

Central (interior) osteophytes of the distal femur. Imaging and pathologic findings

RATIONALE AND OBJECTIVES: To characterize central osteophytes (COs) of the distal femur, imaging features that enable their differentiation from intra-articular bodies were identified, and the frequency of overlying articular cartilage abnormalities was determined. METHODS: The authors inspected 133 distal femoral specimens and retrospectively reviewed knee radiographs of 48 symptomatic patients and magnetic resonance images of 60 symptomatic patients for presence of COs. The location and imaging features of COs, and their association with marginal osteophytes (MOs), were recorded. Articular cartilage abnormalities, if any, were documented in patients who underwent magnetic resonance imaging. RESULTS: Specimen analysis showed a 41% prevalence of COs, 95% association of COs with MOs, and predominance of large COs in the medial femoral condyle (81%). Radiographic analysis revealed a 9.8% prevalence of COs in the distal femur. Magnetic resonance images demonstrated a 14.3% prevalence of COs, with the majority (73%) accompanied by an overlying cartilage that had abnormal signal intensity or morphology, or both. CONCLUSIONS: Central osteophytes are a common finding in the distal femur. Based on their location and cortical continuity with the underlying bone, most COs can be differentiated from intra-articular bodies.