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First-trimester genetic diagnosis in multiple pregnancy: principles and potential pitfalls.

Both the principles of first-trimester genetic diagnosis in multiple pregnancy and the special considerations required to avoid potential diagnostic pitfalls are presented. The experience consisted of 65 cases of twins and one case of quadruplets. Dichorionic twins were recognized by sonography in 54 cases. Transabdominal aspiration was generally preferred to transcervical for obtaining chorionic tissue, although in two cases both approaches were used. Diagnostic error following erroneous sampling was reported in 3 out of 54 sets of dichorionic twins (5.5 per cent). When like-sex dichorionic twins cannot be differentiated by cytogenetic or DNA polymorphism studies, amniocentesis should be recommended to confirm the reliability of the result on chorionic tissue.

Adult↗

Cutaneous malignant melanoma associated with extensive pseudoepitheliomatous hyperplasia. Report of a case and discussion of the origin of pseudoepitheliomatous hyperplasia.

We report a case of cutaneous malignant melanoma associated with extensive pseudoepitheliomatous hyperplasia. Pseudoepitheliomatous hyperplasia may mimic squamous cell carcinoma and may complicate the diagnosis of cutaneous melanoma. This diagnostic pitfall is important to both recognize and be cognizant of, so as to avoid diagnostic errors. The observation of the pseudoepitheliomatous hyperplasia, in this case with an extensive proliferation of eccrine ducts, provides further evidence that cutaneous pseudoepitheliomatous hyperplasia arises within the eccrine apparatus.

Aged↗

Pitfalls in the ultrasonographic diagnosis of gallbladder diseases.

Ultrasonography is rapidly replacing radiological techniques of gallbladder investigation. While ultrasonography is highly accurate, there are technical, anatomical and diagnostic pitfalls which will trap the unwary. This presentation highlights the pitfalls which we have encountered, reviews the literature in this area and suggests techniques whereby these pitfalls may be avoided.

Diagnostic Errors↗

Tricky and interesting carotid cases.

In many instances, ultrasound examination of the carotid arteries is a straightforward matter, with easily recognized atherosclerotic disease and well-defined parameters for assessment of carotid obstruction. In some circumstances, however, hemodynamic conditions may skew the Doppler velocity and waveform findings in potentially confusing ways, possibly cause misdiagnosis. This is the "tricky" aspect of carotid sonography of which all vascular ultrasound practitioners must be wary. A series of cases are presented in this article, representing common diagnostic problems seem in day-to-day clinical practice that may trick the unwary diagnostician. These cases are presented as "unknowns," allowing the reader to analyze the findings and attempt to recognize the diagnostic pitfall. Each case is followed by analysis of the findings and listing of key diagnostic points.

Aged↗

Diagnostic evaluation of Cushing's syndrome.

The regulation of ACTH-cortisol production in the pathophysiology of the various forms of Cushing's syndrome is discussed. The diagnostic algorithms for the differential diagnosis of Cushing's syndrome are reviewed with emphasis on the precision of the evaluation, diagnostic pitfalls, and the influence of some of the more recently developed procedures on this diagnostic evaluation.

Cushing Syndrome↗

Biphasic contrast-enhanced multisection dynamic MR imaging of the liver: potential pitfalls.

Biphasic contrast material-enhanced dynamic magnetic resonance (MR) imaging is an important technique for evaluating liver disease. However, several potential diagnostic pitfalls may be encountered, including lobar, segmental, subsegmental, and subcapsular hyperperfusion abnormalities; early-enhancing pseudolesions, particularly in the medial segment of the left hepatic lobe; heterogeneous hyperperfusion abnormalities throughout the liver; and hypointense pseudolesions due to vascular artifacts, unenhanced hepatic vessels, partial volume artifacts, magnetic susceptibility artifacts, and regenerative nodules in cirrhosis. These abnormalities sometimes have appearances similar to those of true lesions or tumor spread to the surrounding liver parenchyma on arterial-dominant phase dynamic MR images. In most cases, however, no corresponding abnormalities are seen with other pulse sequences or on delayed-phase MR images. In addition, hyperperfusion abnormalities due to readily recognizable causes are often found in characteristic locations and thus can be differentiated from true tumors. An understanding of the causes of these potential pitfalls and how to avoid them will help radiologists understand and correctly interpret images.

Artifacts↗

Fine-needle aspiration cytopathology of malignant fibrous histiocytoma.

BACKGROUND: Most pathologists generally accept malignant fibrous histiocytoma (MFH) as the most common soft tissue sarcoma in adults. This study examines the authors' aspiration cytopathology experience with this tumor, describes its cytomorphology, and determines the reliability of such a diagnosis by fine-needle aspiration biopsy (FNAB). METHODS: The authors' files were reviewed for cases diagnosed as MFH by FNAB, and for surgical pathology cases of MFH previously aspirated but not diagnosed as such by cytology. RESULTS: Fifty-two cases of MFH (by FNAB or histology) were recovered from the combined files; 42 aspirates had tissue confirmation. Patient age ranged from 15-88 years (mean, 63 years); the male:female ratio was 1.2. Thirty aspirates were from primary tumors, and 12 were from recurrences or metastases. From the 29 aspirates diagnosed as MFH, 24 (83%) were determined to be MFH on subsequent surgical excision. Four of the remaining cases were other sarcoma subtypes, and there was one organizing thrombus (false-positive). The remaining 13 aspirates were identified as unqualified sarcoma (11 cases) or a different sarcoma subtype (2 cases). Eleven of these were histologically diagnosed as MFH, and 2 as other sarcomas. No single cytologic feature or combination of features distinguished MFH. Patterns ranged from single cells to large storiform fragments. Spindled, plasmacytoid, and pleomorphic cell shapes were found; pleomorphic cells were often multinucleated. All cases of MFH had malignant nuclear morphology. Diagnostic pitfalls included low cellularity, obscuring blood and inflammation, and inadequate clinical and/or radiologic information. CONCLUSIONS: The diagnostic role of FNAB in soft tissue lesions remains controversial. FNAB is important in the initial triage of patients with soft tissue tumors, and is particularly accurate for confirming recurrent or metastatic disease. Although making an initial diagnosis of sarcoma by FNAB is reliable, specific subtyping of them as MFH is more problematic.

Adolescent↗

Pitfalls in fine needle aspiration cytology.

A review of pitfalls encountered in fine needle aspiration cytology (FNAC) of all organs and tissues and based mainly on the author's 35-year experience of diagnostic FNAC in clinical practice is presented. Diagnostic difficulties are usually related to deviations from common cytological criteria that may occur in some lesions. Others are due to the effects of the sampling procedure or of the preparation of samples. A few basic rules are proposed, which may help to avoid some of the diagnostic pitfalls.

Biopsy, Fine-Needle↗

Preoperative staging of cervical carcinoma with MR imaging: a reappraisal of diagnostic accuracy and pitfalls.

The purpose of this study was to assess the diagnostic accuracy and pitfalls of MR imaging in preoperative staging of cervical cancer. Magnetic resonance imaging was performed to determine the tumor staging for 41 patients with cervical carcinoma emphasizing tumor size, parametrial invasion, vaginal invasion, and lymph node metastases. According to the correlation of MR findings with surgical-pathological features, there was less than 5 mm discrepancy in the size in 29 of 34 tumors (85.3%) that were larger than 1 cm. In assessing parametrial invasion, vaginal invasion and lymph node metastases, MR imaging had an accuracy of 95, 83, and 86%, respectively. In determining stage of disease and differentiating operable (< or =stage IIA) from advanced disease (> or =stage IIB), MR imaging had an accuracy of 82.9 and 93%. Pitfalls leading to staging errors included difficulties in differentiating cancer foci from surrounding tissue edema and detecting microscopic tumor extension. Magnetic resonance imaging is accurate in the evaluation of parametrial invasion and differentiation of operable from advanced disease. The ability of MR imaging to detect microscopic extra-cervical tumor extension and differentiate cancer foci from surrounding tissue edema is not as reliable.

Adult↗

Dermatoscopic pitfalls in differentiating pigmented Spitz naevi from cutaneous melanomas.

Epiluminescence microscopy (ELM, skin surface microscopy, dermoscopy, dermatoscopy) is a valuable method for improving the diagnostic accuracy in pigmented skin lesions. Specific ELM criteria are already recognized for differentiating pigmented Spitz naevi (PSN) from cutaneous melanomas (CM). Our purpose was to describe the ELM appearance of a series of PSN with emphasis on PSN and CM with overlapping features. Thirty-six consecutive patients with PSN, and three cases of CM (selected from a larger database) exhibiting ELM 'spitzoid' features, were evaluated clinically, dermatoscopically and histopathologically. Most PSN (27 of 36; 75%) displayed two typical ELM patterns, namely, the starburst (19 of 36; 53%) or the globular pattern (eight of 36; 22%), which were correlated to different histopathological findings. In nine of 36 (25%) PSN, atypical ELM features which are more commonly seen in CM were observed. These PSN with an atypical pattern were characterized by an uneven distribution of colours and structures, and an irregular diffuse pigmentation resembling blue-white veil or irregular extensions (black blotches). These atypical lesions mostly occurred in children and showed no history of growth. In contrast, in three examples of CM, the typical ELM criteria of malignancy were less recognizable and either the characteristic starburst or globular pattern usually seen in PSN was present. These three lesions occurred in adults and had a recent history of change in colour, shape or size. The overlap in ELM features of some PSN and CM represents a major diagnostic pitfall when ELM examination is considered alone. In these atypical cases, clinical history including the age of the patient may be the only clue to enable a correct diagnosis.

Adolescent↗

Transition of care between paediatric and adult gastroenterology. Coeliac disease.

Coeliac disease is a condition in which there is an abnormal mucosa in the small intestine. It improves with a gluten free diet, with avoidance of wheat, rye, barley and possibly oats. The history and epidemiology of this condition are discussed. Diagnosis is based on demonstrating that the characteristic histological abnormalities in the small intestine are dependent on gluten ingestion. Diagnostic pitfalls are discussed. The anti-endomysium and anti-tissue transglutaminase antibodies are specific and sensitive diagnostic tools. The wide variety of clinical symptoms and presentations are discussed including the associated condition of dermatitis herpetiformis. Failure to respond to a gluten-free diet can represent simple dietary problems, an alternative diagnosis or, occasionally, the development of a serious complication of coeliac disease such as ulcerative jejunitis or enteropathy-associated T cell lymphoma. Progress towards the characterization of the toxic epitopes within gluten that exacerbate coeliac disease and our current understanding of the genetics of the disorder are presented.

Adolescent↗

The diagnosis of Ménétrier's disease.

Two cases of Ménétrier's disease are reported to illustrate the clinical presentation and diagnosis of this unusual condition. The literature has been reviewed of all the reported cases to establish the relative importance of the individual symptomatology, the value of the diagnostic methods, and to highlight the diagnostic pitfalls. Recognition of the barium meal appearances and snare biopsy at gastroscopy may avoid the necessity of diagnostic laparotomy.

Adolescent↗

Richter's femoral hernia: a clinical pitfall.

A.G. Richter described in 1777 a hernia in which the antimesenteric part of the small intestine was incarcerated. We demonstrate in the article the diagnostic pitfalls of the Richter's femoral hernia. The physical signs consist of vague abdominal complaints, swelling in the groin but usually no symptoms of intestinal obstruction. The Richter's femoral hernia can be complicated by a stenosis in the initially incarcerated distal ileum.

Aged↗

Mild traumatic brain injury syndrome.

The mild post-traumatic brain injury syndrome has continued to pose clinical management problems for medical specialists from the emergency physician to the family practitioner. The contribution of preinjury medical and psychosocial factors, along with the concomitant risk of litigation, complicates the diagnostic task. This review examines selected aspects of this problem, including definition and classification, pathophysiology, symptom constellation, medicolegal pitfalls, diagnostic procedures, and treatment recommendations. Practitioners need to be particularly alert to the optimal strategies for emergency department management to prevent "mild" injuries from becoming major disabilities.

Brain Injuries↗

Abdominal mass in a young woman. Pitfalls and delayed diagnosis. Case report.

Although germ cell tumors arising from adnexa are relatively frequent among young women, diagnosis is often delayed by omitting basic diagnostic procedures. This case report highlights the importance of using the available diagnostic tools beginning from the simplest one, i.e., physical examination, to the most sophisticated and reliable one (ultrasonography). Diagnostic pitfalls and management of a massive ovarian tumor in an 18 year-old woman are reported.

Adolescent↗

Ultrasound as the imaging method of choice for monitoring the intragastric balloon in obese patients: normal findings, pitfalls and diagnosis of complications.

BACKGROUND: The authors studied ultrasound (U/S) monitoring of the BioEnterics intragastric balloon (BIB) for treatment of moderate obesity by describing normal U/S aspects, diagnostic pitfalls and assessment of complications. METHODS: Over the last 3 years, 151 BIB systems have been endoscopically placed and filled with 500-700 ml of saline plus 10 ml of methylene blue in 131 patients (mean age 38.4 years, range 18-72); males/females 46/85; mean BMI 43.8 kg/m(2)). In all patients abdominal U/S was carried out before and 12 days after endoscopy and thereafter at scheduled follow-up examinations, and/or whenever the subject complained of epigastric burning/ache, vomiting, and lack of sensation of a BIB with or without staining of urine and/or feces. RESULTS: The BIB appeared as a round anechoic structure, with a thick hyperechoic wall and a hyperechoic band-like valve inside. Complications occurred in 18 patients: in 8, staining of urine and/or feces prompted immediate endoscopic removal. In 10 patients, U/S findings were: 1) decreased volume, loss of the spherical shape with the valve still visible (5 cases); 2) multiple hyperechoic streaks regularly spaced due to a completely collapsed BIB, not modified by decubitus changes (3 cases); 3) migration through the intestine (2 cases): in one patient the BIB was passed in the stools after 4 days, whereas in the other case large bowel obstruction required laparoscopic surgery. CONCLUSION: U/S affords a quick, safe and accurate method for assessing both BIB status after endoscopic deployment and the most frequently-occurring complications (partial/complete deflation, migration through the pylorus with intestinal obstruction) in obese patients.

Adolescent↗

Use and abuse of EEG in the diagnosis of idiopathic generalized epilepsies.

This article concentrates on the role of electroencephalograms (EEGs) in the diagnosis and management of patients with idiopathic generalized epilepsies (IGEs). We review the morphologic and behavioral characteristics of the interictal and ictal EEG markers of IGE that should guide recording strategies to augment its diagnostic yield, and we attempt to delineate those particular features that may be relevant to different IGE syndromes. We also explore the electrographic boundaries between IGEs and cryptogenic/symptomatic generalized and focal epilepsies, and focal/secondary generalized epilepsies, with particular relevance to the phenomena of focal abnormalities and secondary bilateral synchrony, commenting on possible diagnostic pitfalls and areas of uncertainty.

Biomarkers↗

The Venturi effect and cerebrovascular ultrasound.

BACKGROUND: One of the most frequent diagnostic pitfalls in cerebrovascular ultrasound is the evaluation of the vertebrobasilar system in the case of vertebral artery (VA) hypoplasia because the diagnostic findings are sometimes suggestive of significant pathologies, but may be completely normal as well. The Venturi effect is a phenomenon of hydrodynamics which describes a drop in hydrostatic pressure along areas of high flow velocities. METHOD: We review the physical background of the Venturi effect and describe how it can explain both physiological and pathological flow phenomena encountered during cerebrovascular ultrasound investigations. We focused on flow phenomena at the vertebrobasilar junction by theoretically calculating conditions with different influx angles and flow velocities on two-dimensional digital subtraction angiography images. In the discussion, we also address other areas of cerebrovascular ultrasound, where the Venturi effect is of particular interest. RESULTS AND CONCLUSIONS: The blood flow velocity within the VAs and the angle between a hypoplastic VA and the basilar artery (BA) are important determinants of the intraluminal pressures of these arteries and thus their resistances. In the case of angles below 90 degrees between the distal VA and the BA, abnormal extracranial flow profiles may suggest downstream VA stenosis or occlusion, whereas in the case of angles above 90 degrees, a diagnosis of an AV fistula downstream to the V4 segment may be assumed. Furthermore, various hemodynamic effects at the site of a stenosis of the brain supplying arteries can also be explained by a transstenotic pressure drop created by the Venturi effect, particularly the generation of musical murmurs. The systolic dip ('systolic deceleration') at the origin of the VA due to subclavian artery stenosis is also a consequence of the Venturi effect.

Blood Flow Velocity↗