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Atypical Findings (atypical + finding)

Distribution by Scientific Domains

Medical Sciences	75%

Selected Abstracts

Neurophysiologic evaluation of early cognitive development in high-risk infants and toddlers

DEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 4 2005
Raye-Ann deRegnier
Abstract New knowledge of the perceptual, discriminative, and memory capabilities of very young infants has opened the door to further evaluation of these abilities in infants who have risk factors for cognitive impairments. A neurophysiologic technique that has been very useful in this regard is the recording of event-related potentials (ERPs). The event-related potential (ERP) technique is widely used by cognitive neuroscientists to study cognitive abilities such as discrimination, attention, and memory. This method has many attractive attributes for use in infants and children as it is relatively inexpensive, does not require sedation, has excellent temporal resolution, and can be used to evaluate early cognitive development in preverbal infants with limited behavioral repertories. In healthy infants and children, ERPs have been used to gain a further understanding of early cognitive development and the effect of experience on brain function. Recently, ERPs have been used to elucidate atypical memory development in infants of diabetic mothers, difficulties with perception and discrimination of speech sounds in infants at risk for dyslexia, and multiple areas of cognitive differences in extremely premature infants. Atypical findings seen in high-risk infants have correlated with later cognitive outcomes, but the sensitivity and specificity of the technique has not been studied, and thus evaluation of individual infants is not possible at this time. With further research, this technique may be very useful in identifying children with cognitive deficits during infancy. Because even young infants can be examined with ERPs, this technique is likely to be helpful in the development of focused early intervention programs used to improve cognitive function in high-risk infants and toddlers. © 2005 Wiley-Liss, Inc. MRDD Research Reviews 2005;11:317,324. [source]

Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma

BRITISH JOURNAL OF DERMATOLOGY, Issue 3 2001
E. Virolainen
Congenital ichthyoses are a group of heterogeneous disorders of cornification. Autosomal recessive congenital ichthyosis (ARCI) can be clinically subdivided into congenital ichthyosiform erythroderma and lamellar ichthyosis. Ultrastructurally, ARCI is classified into four groups: ichthyosis congenita (IC) types I,IV. The genetic background of the ARCI disorders is heterogeneous, but only one disease gene, transglutaminase 1, has been detected so far. We describe six patients with severe congenital ichthyosis from six different Scandinavian families. They could not be classified ultrastructurally into the four IC groups because of atypical findings of electron microscopy. These included abnormal lamellar bodies, alterations in keratohyalin, remnant organelles and lipid inclusions in the upper epidermal cells, which resembled the ultrastructural findings of harlequin ichthyosis (HI), although the HI phenotype was not present at birth. Some clinical features, such as thick scales, erythroderma, alopecia and ectropion were common to all patients. Ichthyosis was usually accentuated in the scalp and four patients had clumped fingers and toes. None of the patients carried the transglutaminase 1 mutation. We conclude that ultrastructural findings resembling those detected in previous HI cases (type 1 and 2) can also be found in patients who do not have classic clinical features of that rare ichthyosis. This may be due to lack of specificity of ultrastructural markers for HI or to its clinical heterogeneity. [source]

1363: White dot syndromes

ACTA OPHTHALMOLOGICA, Issue 2010
S ANDROUDI
Purpose The white dot syndromes (WDS) are a group of distinct clinical entities characterized by one common underlying feature: the presence of multiple "spots" in the fundus, usually in the deep retina or choroid without any other systemic manifestations. Methods The disorders are relatively rare and include the following entities: acute posterior multifocal placoid pigment epitheliopathy (APMPPE), multiple evanescent white dot syndrome (MEWDS), birdshot retinochoroidopathy (BSRC), serpiginous choroidopathy (SC), multifocal choroiditis and panuveitis (MCP), punctate inner choroidopathy (PIC), subretinal fibrosis and uveitis syndrome, and presumed ocular histoplasmosis syndrome (POHS). Results Despite the fact that many infectious and noninfectious inflammatory diseases may present with multifocal chorioretinal lesions, the entities included in the WDS share some features which make them a particular group of ocular disorders. In fact, the WDS would be better labeled as idiopathic inflammatory multifocal chorioretinopathies, since with the exception of diffuse unilateral subacute neuroretinitis, their causes are still unknown. Conclusion Because the specific diagnosis may have profound implications on therapy and prognosis, it is important to narrow the diagnosis to the greatest extent possible, even in patients with seemingly atypical findings. The correct diagnosis of WDS is important because the management is totally different from one another. Some of them are self-limited and have good visual outcomes without treatment, while others are associated with serious retinal and choroidal sequelae, which can result in severe visual loss even after adequate immunosuppressive therapy. [source]

Atypical Clinical Features of Pediatric Appendicitis

ACADEMIC EMERGENCY MEDICINE, Issue 2 2007
Theresa Becker DO
Background The diagnosis of appendicitis remains challenging in children. Delays in diagnosis, or misdiagnosis, have important medical and legal implications. The typical, or classic, presentation of pediatric appendicitis has been modeled after adult disease; however, many children present atypically with subtle findings or unusual signs. Objectives To determine the frequency of atypical clinical features among pediatric patients with appendicitis and to investigate which atypical features are the strongest negative predictors for appendicitis among patients being evaluated for appendicitis. Methods Children and adolescents with suspected appendicitis were enrolled over 20 consecutive months. Pediatric emergency physicians completed standardized data collection forms on eligible patients. Final diagnosis was determined by pathology or follow-up telephone call. Typical and atypical findings were defined strictly a priori. Results Seven hundred fifty-five patients were enrolled. The median age was 11.9 years (interquartile range [IQR]: 8.5, 14.9 yr); 36% of patients were diagnosed with appendicitis. Among patients with appendicitis, the most common atypical features included absence of pyrexia (83%), absence of Rovsing's sign (68%), normal or increased bowel sounds (64%), absence of rebound pain (52%), lack of migration of pain (50%), lack of guarding (47%), abrupt onset of pain (45%), lack of anorexia (40%), absence of maximal pain in the right lower quadrant (32%), and absence of percussive tenderness (31%). Forty-four percent of patients with proven appendicitis had six or more atypical characteristics. The median number of atypical features for patients with proven appendicitis was five (IQR: 4.0, 7.0). The greatest negative predictors, on the basis of likelihood ratios, were as follows: white blood cell count (WBC) of <10,000 per cubic millimeter (likelihood ratios [LR], 0.18), absolute neutrophil count (ANC) of <7,500 per cubic millimeter (LR, 0.35), lack of percussive tenderness (LR, 0.50), lack of guarding (LR, 0.63), and no nausea or emesis (LR, 0.65). Conclusions Appendicitis in pediatric patients is difficult to diagnose because children present with a wide variety of atypical clinical features. Forty-four percent of patients with appendicitis presented with six or more atypical features. Two atypical features are the strongest negative predictors of appendicitis in children: WBC of <10,000 per cubic millimeter and an ANC of <7,500 per cubic millimeter. [source]