Ultrasound imaging of fetal neck anomalies: implications for the risk of aneuploidy and structural anomalies

This study summarizes 24,000 transvaginal ultrasound examinations which were performed in a predominantly low-risk population at 14-16 weeks' gestation. 1254 (5.2 per cent) fetuses had a nuchal fold or a non-septated cystic hygroma. Of these fetuses, 140 (11.1 per cent) had additional structural anomalies. Cardiovascular anomalies were the most commonly detected structural malformations. Forty-three (3.4 per cent) fetuses were aneuploid. Trisomy 21 was the most common chromosomal anomaly (n = 27). Aneuploidy was significantly more common in fetuses who had a nuchal finding and an associated structural anomaly. The prevalence of nuchal fold and non-septated cystic hygroma, as well as the incidence of their associated structural anomalies, was similar. Based on these data, it is concluded that a complete ultrasonic survey of the fetus and karyotyping are advocated in fetuses with a nuchal abnormality, irrespective of maternal age or triple serum screening results.     

CHARGE association: new associated anomalies

The extraction of impacted foreign bodies from the oesophagus is frequently performed using forceps under endoscopic guidance. We report the case of a 23-year-old prisoner who ingested a lump of cannabis resin which could not be removed from the upper oesophagus with forceps alone. We recommend the use of a Fogarty balloon catheter in conjunction with toothed forceps in such cases.     

Chondroblastoma: classic and confusing appearance at MR imaging

PURPOSE: To define the characteristics of chondroblastoma at magnetic resonance (MR) imaging and the combination of findings that are diagnostic for chondroblastoma. MATERIALS AND METHODS: From January 1987 through December 1992, 22 patients with histologically confirmed chondroblastoma and prior MR imaging examinations were seen. Patients included 16 men and six women, aged 10-58 years (median, 17 years). Retrospective analysis of findings at MR imaging, plain radiography, computed tomography, and bone scanning was performed. RESULTS: Low to intermediate heterogeneous signal intensity, lobular internal architecture, and fine lobular margins were well defined with high-resolution T2-weighted (repetition time > or = 1,500 msec, echo time > or = 70 msec) MR imaging. Adjacent bone-marrow and soft-tissue edema and periosteal reactions were more dramatically demonstrated on MR images than on radiographs. Bone marrow edema was prominent in all but five cases. Obvious periosteal reaction and adjacent soft-tissue edema were visible in 17 cases. CONCLUSION: Knowledge of the MR imaging findings of chondroblastoma will allow accurate diagnosis and help avoid confusion with infection and aggressive neoplasms.     

Enthesiopathy: clinical manifestations, imaging and treatment

Enthesitis is a distinctive pathological feature of spondyloarthropathy and may involve synovial joints, cartilaginous joints, syndesmoses and extra-articular entheses. This review focuses on peripheral extra-articular enthesitis which is a clinical hallmark of spondyloarthropathy. The entheses of the lower limbs are more frequently involved than those of the upper limbs, and heel enthesitis is the most frequent. Entheseal pain may be mild or moderate as well as severe and disabling. Peripheral enthesitis may be observed in all forms of spondyloarthropathy, including the undifferentiated ones, and may for a long time be the only long-standing clinical manifestation of the B27-associated disease process. Various imaging methods have been suggested for studying peripheral enthesitis. Ultrasonography and magnetic resonance imaging are the most useful because they may show alterations of the structures involved. Therapy of peripheral enthesitis consists of NSAIDs, orthoses and physical therapy. Steroid injections, second line drugs such as sulphasalazine and radiotherapy are reserved for more severe cases.     

Gastric duplication: endoscopic appearance and clinical features

The case of a 13-year-old female presenting with a 6 week history of significant vomiting resulting from a gastric duplication is described. At endoscopy, an antral mass which appeared to change in size and site with peristalsis was evident. Although rare, these lesions need to be considered in the differential diagnosis of patients presenting with symptoms suggestive of gastric outlet obstruction. However, in the majority of cases, the diagnosis is rarely made prior to surgery.     

Appendiceal and peri-appendiceal air at CT: prevalence, appearance and clinical significance

AIM: Appendiceal air has been reported as both a sign of appendicitis and of a normal appendix both at plain radiography and computed tomography (CT). It is the aim of this investigation to determine the prevalence, range of appearances, and significance of appendiceal and peri-appendiceal air at CT. PATIENTS AND METHODS: Appendiceal CT scans of 100 patients with proven appendicitis and 100 patients with a normal appendix were reviewed for the presence of appendiceal and peri-appendiceal air. All cases were correlated with surgical and pathological findings or clinical follow-up. RESULTS: In 100 CT cases of appendicitis, appendiceal and/or peri-appendiceal air was present in one or more forms in 31% of cases. When present, it appeared as intraluminal air bubbles (38.7%) or air-fluid levels (22.6%), appendolith air (41.9%), intramural air (16.1%), peri-appendiceal air bubbles (12.9%), or extraluminal air-fluid level(s) (29.0%). Intramural and extraluminal air correlated with perforation in 60% and 100%, respectively. In 100 CT cases of a normal appendix, air was present in 57%. It was always intraluminal and appeared as small bubbles of air (52.6%), a tubular-shaped air collection (43.9%), or as an air-fluid level (3.5%). The appendiceal lumen was either airless (43%), or minimally (32%), moderately (18%), or completely filled with air (7%). CONCLUSION: Air is a common finding at appendiceal CT in both the normal and inflamed appendix. Intraluminal air is seen in both appendicitis and normal appendices, and cannot be presumed to indicate a patent lumen and thus a normal appendix. Appendolith, intramural and peri-appendiceal air appear diagnostic of appendicitis.     

Psychological research of children with craniofacial anomalies: review, critique, and implications for the future

We conducted a 25-year follow-up study of 50 children of schizophrenic mothers, consisting of 25 children reared by their mothers and 25 children reared apart. The children's adult psychiatric status was evaluated in a 3-h structured interview employing a battery of syndrome check-lists and scales. A slightly higher incidence of psychopathology (including schizophrenia-spectrum disorders) was found among the reared-apart subjects. This may possibly be attributed to their greater genetic predisposition, as suggested by their mothers' more severe illnesses. Lifetime diagnoses do not provide evidence that psychopathology in offspring at genetic risk is increased by rearing by a schizophrenic mother.     

Tethered cord and associated vertebral anomalies in children and infants with imperforate anus: evaluation with MR imaging and plain radiography

PURPOSE: To evaluate in children and infants with imperforate anus the prevalence and types of occult myelodysplasia that may result in tethered cord and the association of these lesions with vertebral anomalies. MATERIALS AND METHODS: Records and images were retrospectively reviewed in 86 patients who underwent spine magnetic resonance imaging and had either low-level imperforate anus (n = 30), intermediate-level imperforate anus (n = 15), or high-level imperforate anus (n = 41). RESULTS: Thirty-one of 86 patients (36%) had occult myelodysplasia suggestive of tethered cord (27% of all patients with low-, 33% of all patients with intermediate-, and 44% of all patients with high-level lesions). Of these 31 patients, 16(52%) were asymptomatic, 24, (77%) had a thickened fatty filum, 13 (42%) had normal conus position, and 23 (74%) had vertebral anomalies. Twenty-four of the 31 patients (77%) underwent surgical untethering. CONCLUSION: A substantial number of patients with all types of imperforate anus have occult myelodysplasia that may necessitate surgical intervention, including those patients with normal spine radiographs.     

Progeroid syndrome with characteristic facial appearance and hand anomalies in father and son

The effects of microinjection of sodium glutamate and glycine into ventrolateral nucleus of tractus solitarius (VLNTS) on the discharges of phrenic nerve were observed on 40 anaesthetized, vagotomized, paralyzed and artificially ventilated rabbits. The results were as follows: Phrenic nerve discharges were increased, inspiratory duration prolonged, expiratory duration shortened and respiratory frequency not changed by microinjection of sodium glutamate into VLNTS. While by microinjection of glycine, phrenic nerve discharges were decreased, even abolished, inspiratory duration shortened, expiratory duration irregularly prolonged and respiratory frequency decreased. The above results show that VLNTS exert important effects on the genesis of respiratory rhythm.     

Vulnerable plaque: pathobiology and clinical implications

PURPOSE: To review the pathobiology and clinical implications of vulnerable coronary atherosclerotic plaques and to discuss the identification of vulnerable plaques and mechanisms of plaque stabilization. DATA SOURCES: English-language articles in the MEDLINE database that were published from 1966 to the present, identified by using the terms atherosclerotic plaque, myocardial revascularization, and plaque stabilization. Selected references cited in identified articles were reviewed. STUDY SELECTION: Experimental, clinical, and basic research studies related to coronary atherosclerotic plaques. DATA SYNTHESIS: Rupture at the site of a vulnerable atherosclerotic plaque is the most frequent cause of acute coronary syndromes. Typically, such plaque does not cause high-grade stenosis and has a large lipid core and a thin fibrous cap that is often infiltrated by inflammatory cells. Mechanical stresses contribute to plaque vulnerability, and certain triggers may cause plaque disruption directly. The most important consequence of plaque rupture is thrombosis. No method reliably identifies plaques prone to rupture. The reduction of coronary events by lipid-lowering agents despite only modest luminal changes suggests that these agents have a plaque-stabilizing effect. Surgical or percutaneous revascularization does not address the basic biology of coronary atherosclerosis and therefore may have little effect on plaque vulnerability. CONCLUSIONS: Improved understanding of the biology of atheromatous plaques has led to the concept of plaque vulnerability. Identification and stabilization of vulnerable plaques are important new directions in the treatment of coronary atherosclerosis. The relative benefits of aggressive medical therapy aimed at plaque stabilization should be compared with those of revascularization in the management of chronic coronary artery disease.     

Autoinflation: historical highlights and clinical implications

In 1563, Eustachius first described the tube that came to be named for him. In 1704, Valsalva described the maneuver that bears his name, and in 1836 Deleau became one of the first to advocate infusion of pure air through the eustachian tube using a catheter. Politzer devised his own method for actively inflating the middle ear without using a catheter in 1863. Most modern studies examining the use of autoinflation in the treatment of secretory otitis media have shown a beneficial effect, with effusion being cleared in 52 to 62% of ears up to nine months after the treatment. In two studies, no effect of autoinflation could be demonstrated, and in one publication the autoinflation group had deteriorated compared to the control group. In light of the fact that secretory otitis media is a benign and transient condition, that treatment with antibiotics or insertion of ventilation tubes is not without problems, and that the chance of improving the condition by autoinflation is approximately 50%, it is concluded that autoinflation should be considered first-line treatment, before antibiotic or surgical treatment is planned.     

Subacute combined degeneration: clinical, electrophysiological, and magnetic resonance imaging findings

OBJECTIVE: Vitamin B12 deficiency is a systemic disease that often affects the nervous system. One of the most prevalent manifestations is subacute combined degeneration (SCD) of the spinal cord. To access the clinical, electrophysiological, and structural abnormalities associated with SCD, a study was conducted in nine patients. METHODS: Clinical, electrophysiological (electroneurography, somatosensory and motor evoked potentials), and MRI evaluations were performed in patients before and after treatment. RESULTS: The most prominent clinical and electrophysiological findings in all patients were dysfunctions of the posterior column. Corresponding hyperintense lesions in the posterior column of the spinal cord were found in two patients by T2 weighted MRI. Damage to the central motor pathway was identified in four patients. Demyelinating neuropathy was present in one patient and axonal neuropathy in four. All patients showed improvement of their symptoms after treatment with cobalamin. Abnormalities of the spinal cord on MRI disappeared early in recovery. Motor evoked potentials and median somatosensory evoked potentials typically normalised after treatment, whereas tibial somatosensory evoked potentials remained abnormal in most patients. CONCLUSIONS: Clinical, electrophysiological, and MRI findings associated with SCD in vitamin B12 deficiency are diverse. Thus vitamin B12 deficiency should be considered in the differential diagnosis of all spinal cord, peripheral nerve, and neuropsychiatric disorders.     

Sternal cleft associated with vascular anomalies and micrognathia

Three hundred and seventy-five acanthocephalans, Moniliformis clarki, were removed from the small and large intestines of a gray squirrel from Arkansas County, Arkansas (USA). This is the first report of M. clarki from Arkansas. Enteric lesions, including distension, perforating ulcers, enteritis, crypt hypertrophy, goblet cell hyperplasia, and occlusions of the intestinal tract were observed, indicating the pathogenic potential of this parasite.     

Pleural effusions in the medical ICU: prevalence, causes, and clinical implications

OBJECTIVE: To determine the prevalence and causes of pleural effusions in patients admitted to a medical ICU (MICU). DESIGN: Prospective. SETTING: MICU in a tertiary care hospital. PATIENTS: One hundred consecutive patients admitted to the MICU at the Medical University of South Carolina whose length of stay exceeded 24 h had chest radiographs reviewed daily and chest sonograms performed within 10 h of their latest chest radiograph. RESULTS: The prevalence of pleural effusions in 100 consecutive MICU patients was 62%, with 41% of effusions detected at admission. Fifty-seven of 62 (92%) pleural effusions were small. Causes of pleural effusions were as follows: heart failure, 22 of 62 (35%); atelectasis, 14 of 62 (23%); uncomplicated parapneumonic effusions, seven of 62 (11%); hepatic hydrothorax, five of 62 (8%); hypoalbuminemia, five of 62 (8%); malignancy, two of 62 (3%); and unknown, three of 62 (5%). Pancreatitis, extravascular catheter migration, uremic pleurisy, and empyema caused an effusion in one instance each. Heart failure was the most frequent cause of bilateral effusions (13/34 [38%]). When compared with patients who never had effusions during their MICU stay, patients with pleural effusions were older (54+/-2 years, mean+/-SEM, vs 47+/-2 years [p=0.04]), had lower serum albumin concentration (2.4+/-0.1 vs 3.0+/-0.01 g/dL [p=0.002]), higher acute physiology and chronic health evaluation II scores during the initial 24 h of MICU stay (17.2+/-1.1 vs 12+/-1.2 [p=0.010]), longer MICU stays (9.8+/-1.0 vs 4.6+/-0.7 days [p=0.0002]), and longer mechanical ventilation (7.0+/-1.3 vs 1.9+/-0.7 days [p=0.004]). No patient died as a direct result of his or her pleural effusion. Chest radiograph readings had good correlation with chest sonograms (p<0.0001). CONCLUSION: Pleural effusions in MICU patients are common, and most are detected by careful review of chest radiographs taken with the patient in erect or semierect position. When clinical suspicion for infection is low, observation of these effusions is warranted initially, because most are caused by noninfectious processes that should improve with treatment of the underlying disease.     

Normal uterus and FIGO stage I endometrial carcinoma: dynamic gadolinium-enhanced MR imaging

Dynamic magnetic resonance (MR) imaging was performed on a 1.5-T superconducting unit for evaluation of 26 stage I endometrial carcinomas. To establish the appearance of the normal uterus, 27 normal uteri were also evaluated. After rapid injection of gadopentetate dimeglumine, dynamic images were obtained every 30 seconds with the spin-echo technique in the sagittal plane. On dynamic studies of endometrial carcinoma, the tumor-myometrial contrast was marked at 120 seconds after administration of gadopentetate dimeglumine (contrast-to-noise ratio [C/N], 26.0). The tumor-myometrial contrast on the dynamic study was more marked than that on postcontrast T1-weighted images (C/N, 10.0) and on T2-weighted images (C/N, 2.14). Dynamic and postcontrast MR images were superior in enabling differentiation of viable tumors from necrosis or residual secretion in the endometrial cavity. In the evaluation of presence of tumor and myometrial invasion, the accuracy of T2-weighted imaging and dynamic imaging was 67.9% and 84.9%, respectively.     

Fetal central nervous system anomalies: MR imaging augments sonographic diagnosis

PURPOSE: To evaluate fetuses with sonographically suspected central nervous system anomalies to determine the frequency with which obstetric magnetic resonance (MR) imaging adds clinically useful information to that provided by ultrasonography (US). MATERIALS AND METHODS: US and MR images and diagnoses in 18 pregnant women were reviewed and compared by two radiologists. Postnatal physical examination and imaging findings and fetal autopsy results were standards. Referring physicians were questioned as to how the additional information provided by MR imaging changed patient counseling. RESULTS: In 10 (55%) patients, MR imaging demonstrated 11 additional findings. These findings were agenesis of the corpus callosum (n = 4), cerebellar hypoplasia (n = 2), cortical cleft (n = 2), polymicrogyria (n = 1), porencephaly (n = 1), and partial agenesis of the septi pellucidi (n = 1). In seven (39%) patients, additional information provided by MR imaging altered counseling. In one case of suspected agenesis of the corpus callosum, diagnosis at MR imaging was at least partially incorrect. CONCLUSION: US and MR imaging are complementary imaging methods in the evaluation of high-risk pregnancy. When a central nervous system anomaly is suspected at US, MR imaging may demonstrate additional findings that can alter patient counseling.     

Congenital anomalies associated with thoracic outlet syndrome. Anatomy, symptoms, diagnosis, and treatment

Personal evaluation of more than 2,300 patients for possible thoracic outlet syndrome (TOS) and knowledge gained from 980 TOS operations in 766 patients (operative incidence of 33.7 per cent of the patients examined) have shown that most patients with TOS have anomalous fibrous muscular bands near the brachial plexus that predispose them to neurologic irritation or compression involving the plexus. Anatomic analysis during operations for TOS, plus cadaver dissections, have disclosed seven distinct types of fibromuscular bands in addition to the less frequent bony anomalies long associated with neurovascular compression. One third of fifty-eight cadaver thoracic outlets dissected showed at least one of the seven muscular anomalies recognized at operations. These anomalies can be accurately related to the patients' symptoms, which are neurologic complaints in 99 per cent of the patients examined who ultimately have the diagnosis of TOS established. Neurologic symptoms are clearly explained by the anomalous bands irritating or compressing the brachial plexus and rarely have any effect on the subclavian vessels. These studies, and others before, have shown no correlation with impairment of circulation or positional radial pulse changes in almost all patients with true TOS. Also, arteriograms and nerve conduction studies generally have failed to be of value in establishing the accurate diagnosis. Reasons for these conclusions are explained, and the most reliable tests are described. The most effective means of relief of severe symptoms of TOS is to alter the mechanical irritation or compression of the brachial plexus by completely resecting the first throacic rib and all anomalous fibromuscular tissue around the plexus and subclavian vessels. If patients are are throughly evaluated with appropriate tests and highly selected for surgical treatment, gratifying relief will result in more than 90 per cent of patients, if the correct operation is performed with meticulous technic.