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Atypical Features (atypical + feature)
Selected AbstractsClinical and genetic features of human prion diseases in Catalonia: 1993,2002EUROPEAN JOURNAL OF NEUROLOGY, Issue 10 2004R. Sanchez-Valle We describe the clinical and genetic characteristics of the 85 definite or probable human prion diseases cases died between January 1993 and December 2002 in Catalonia (an autonomous community of Spain, 6 million population). Seventy-three (86%) cases were sporadic Creutzfeld-Jakob diseases (sCJD) (49 definite, 24 probable), with a median age at onset of 66 years. The clinical presentation was dementia in 29 cases, ataxia in 14 and visual symptoms in five. The median survival was 3 months. The 14-3-3 assay was positive in 93% cases, 62% presented periodic sharp wave complexes (PSWC) in EEG but only 18% the typical signs on MRI. Forty-eight sCJD were studied for codon 129 PRNP polymorphism: 69% were methionine/methionine (M/M), 14.5% valine/valine (V/V) and 16.5% M/V. Six out of seven V/V cases did not present PSWC and in two survival was longer than 20 months. Eleven cases (13%) were genetic: five familial fatal insomnia and six familial CJD (fCJD). Up to four (67%) fCJD lacked family history of disease, two presented seizures early at onset and one neurosensorial deafness. The only iatrogenic case was related to a dura mater graft. No case of variant CJD was registered. The study confirms in our population the consistent pattern reported worldwide on human prion diseases. Atypical features were seen more frequently in sporadic 129 V/V CJD and fCJD cases. [source] Hereditary parkinsonism: Parkinson disease look-alikes,An algorithm for clinicians to "PARK" genes and beyond,,MOVEMENT DISORDERS, Issue 14 2009Christine Klein MD Abstract In the past decade, a number of genetic causes of parkinsonism have been identified. As a consequence, clinicians have to consider an increasing range of differential diagnoses when confronted with a patient with parkinsonism with a positive family history. While well-established monogenic forms with PARK acronyms have been reviewed extensively, less emphasis has been placed on other inherited conditions that may also present with signs of parkinsonism or even mimic idiopathic Parkinson's disease clinically. In this review, we focus on three different scenarios in patients with an overall early age of onset of parkinsonism: (i) atypical features in patients with mutations in one of the "PARK" genes; (ii) classical parkinsonism due to mutations in "other than-PARK" genes or yet other genes where parkinsonism may be a well-recognized, concomitant, or even an isolated feature; (iii) atypical parkinsonism in other genetic disorders which are, however, typically characterized by features other than parkinsonism. Atypical features in patients from Group I include, for example, a slower disease course (PARK2, PARK6, PARK7) or dementia (PARK1/4, PARK14). Conditions in Group II have been designated by a DYT or SCA acronym (for example, DYT5 or SCA3) and also include patients with heterozygous GBA mutations, mitochondrial gene mutations. Group III comprises mutations in the FMR1, MAPT, GRN, ATP7B, PANK2, FBXO7, CHAC, FTL1, Huntingtin, JPH3 genes, and a number of even rarer, miscellaneous conditions. © 2009 Movement Disorder Society [source] Atypical features of congenital syphilis in an HIV-exposed uninfected neonatePEDIATRICS INTERNATIONAL, Issue 2 2010Ronald Van Toorn No abstract is available for this article. [source] The Languages of SiberiaLINGUISTICS & LANGUAGE COMPASS (ELECTRONIC), Issue 1 2009Edward J. Vajda Although Russian today is the dominant language in virtually every corner of North Asia, Siberia and the Northern Pacific Rim of Asia remain home to over three dozen mutually unintelligible indigenous language varieties. Except for Tuvan, Buryat, and Yakut, most are rapidly losing ground to Russian if not already critically endangered. Several more have already become extinct in the four centuries since the area's incorporation into the Russian state. From an ethnographic perspective, Siberian languages merit attention for their interplay of pastoral and hunter,gatherer influences and also for the fact that Siberia represents the staging ground for prehistoric migrations into the Americas. North Asia contains several autochthonous microfamilies and isolates not found outside this region , the so-called ,Paleo-Asiatic' (or ,Paleosiberian') languages Ket, Yukaghir, Nivkh, and the Chukotko-Kamchatkan microfamily, which includes Chukchi, Koryak, and Itelmen. Ainu, formerly spoken on Sakhalin and the Kuriles as well as in Hokkaido, and the three varieties of Eskimoan spoken in historic times on the Russian side of Bering Strait, likewise belong to the earlier, non-food producing layers of ethnolinguistic diversity in North Asia. All of these languages, aside from Eskimoan, are entirely autochthonous to the northern half of Asia. Siberian languages spoken by pastoral groups, on the other hand, belong to families represented more prominently elsewhere. Families, such as Uralic, Turkic, Mongolic, and especially Tungusic (the northern branch of the Tungus-Manchu family), became dominant in Siberia long before the coming of the Russians. As an extension of pastoral Inner Eurasia, Siberia displays many traits characteristic of a linguistic area: suffixal agglutination, widespread dependent marking typology, a fairly elaborate system of spatial case markers, and the use of case suffixes or postpositions to signal syntactic subordination. There are also notable idiosyncratic features, particularly among the so-called Paleo-Siberian languages. These include the areally atypical feature of possessive prefixes and verb-internal subject/object prefixes in Ket, the unique verb-internal focus markers of Yukaghir, the extensive numeral allomorphs that serve as nominal classifiers in Nivkh, and the reduplicative stem augmentation used by Chukchi nouns to express the absolutive singular (in contrast to plurals and oblique case forms, where the stem is simple). While North Asia has long been the preserve of linguists writing in Russian or German (including many Finns and Hungarians), since the collapse of the Soviet Union the number of English-language treatments of Siberian languages is increasing. [source] Citalopram treatment of social anxiety disorder with comorbid major depressionDEPRESSION AND ANXIETY, Issue 4 2003Franklin R. Schneier M.D. Abstract Treatment of patients with both social anxiety disorder and major depression has been little studied although social anxiety disorder and depression frequently co-occur. Each disorder has been shown to respond to serotonin reuptake inhibitor treatment. Objectives of this study were to characterize a sample of these comorbid patients and to assess response to treatment with citalopram. Patients with primary DSM-IV generalized subtype of social anxiety disorder and comorbid major depression (N = 21) were assessed for symptoms of each disorder, including atypical depressive features, and functional impairment. Patients were treated with a flexible dose of open label citalopram for 12 weeks. Response rates for the intention-to-treat sample at week 12 were 14/21 (66.7%) for social anxiety disorder and 16/21 (76.2%) for depression. All continuous measures of social anxiety, depression, and functional impairment improved significantly with treatment, but depression symptoms responded more rapidly and more completely than social anxiety symptoms. Mean dose of citalopram at study endpoint was 37.6 mg/day. Only three patients (14.3%) fulfilled DSM-IV criteria for atypical features of depression, although 18 (85.7%) fulfilled the criterion for interpersonal rejection sensitivity. Citalopram treatment may benefit patients with primary social anxiety disorder and comorbid major depression, and it should be further studied in controlled trials. Improvement in social anxiety disorder symptoms lagged behind improvement in depression, and greater than 12 weeks of treatment may be required to assess full social anxiety response in patients with comorbid depression. The overlap of social anxiety disorder with atypical features of depression may primarily be due to the shared feature of rejection sensitivity. Depression and Anxiety 17:191,196, 2003. © 2003 Wiley-Liss, Inc. [source] Atypical depression: retrospective self-reporting of treatment effectivenessACTA PSYCHIATRICA SCANDINAVICA, Issue 3 2009G. Parker Objective:, Earlier studies demonstrated that those with atypical depression show a differentially superior response to monoamine oxidase inhibitor (MAOI) antidepressants. This study compares ratings of effectiveness for a range of treatments, amongst depressed subjects with and without atypical features. Method:, In an on-line survey, individuals experiencing likely clinical depression rated symptoms experienced when depressed, including ,atypical features' and the effectiveness of previous treatments. Mean treatment effectiveness ratings were compared amongst those with ,atypical depression' (n = 338) and ,non-atypical depression' (n = 377). Results:, There were few significant differences between the ,atypical depression' and ,non-atypical depression' groups in effectiveness ratings for drug treatments, and none for psychological treatments. The ,atypical depression' group had significantly lower mean effectiveness ratings for some selective serotonin reuptake inhibitor antidepressants. Few respondents had trialed MAOIs. Conclusion:, While MAOIs are rarely prescribed, a range of non-MAOI drug and psychological treatments are of some perceived benefit for depressed patients with atypical features. [source] Papillary thyroid carcinoma with atypical histiocytoid cells on fine-needle aspirationDIAGNOSTIC CYTOPATHOLOGY, Issue 4 2009Manju Harshan M.D. Abstract Although papillary thyroid carcinoma (PTC) usually has classic cytological characteristics on fine-needle aspiration (FNA), it can present rarely with aberrant features resembling those of histiocytes in a cystic nodule. The aim of the current study was to describe PTC with atypical histiocytoid cells and distinguish it from benign histiocytes. A retrospective computerized search for FNAs with atypical features suggestive of PTC and cystic degeneration was performed, and if available, the corresponding resection specimens were compared. Four cases met the criteria for FNAs and three had surgical pathology follow-up, which showed PTC. One aspirate had some features typical of PTC, but the remaining FNAs had atypical histiocytoid cells, which had traits intermediate between those of PTC and histiocytes. Large cell size, pseudoinclusions, nuclear grooves, and multiple well-defined vacuoles in atypical histiocytoid cells favor PTC over benign histiocytes. Ancillary immunocytochemical studies can also be useful in confirming the diagnosis. Histiocytic cells are frequently present in thyroid aspirates, and occasionally, they have atypical features that represent an unusual presentation of PTC. Closer examination of these cells can provide diagnostic clues for preventing false-negative diagnosis of PTC. Diagn. Cytopathol. 2009. © 2009 Wiley-Liss, Inc. [source] Symptomatic Epilepsies Imitating Idiopathic Generalized EpilepsiesEPILEPSIA, Issue 2005Hirokazu Oguni Summary:, The diagnosis of idiopathic generalized epilepsies (IGEs) is not generally difficult if one follows the clinical and electroencephalogram (EEG) definitions of each subsyndrome that constitutes IGEs. In contrast, symptomatic epilepsies develop based on organic brain lesions and are easily diagnosed by the presence of developmental delay, neurologic abnormalities, and a characteristic seizure and EEG pattern. However, in clinical practice, it is sometimes difficult to differentiate IGEs from symptomatic epilepsies, especially when the clinical course from the onset of epilepsy is too short to exhibit typical clinical and EEG findings of either epilepsy type, or when patients with symptomatic epilepsies have atypical features that imitate the clinical characteristics of IGEs. The neurodegenerative or metabolic disorders at times start during the clinical course with epileptic seizures and later show typical neurologic abnormalities. The newly recognized metabolic disorder of glucose transporter type 1 deficiency syndrome (Glut-1 DS) may start with myoclonic seizures at an age of less than 1 year and imitate benign myoclonic epilepsy in infancy early in the clinical course. Progressive myoclonus epilepsies (PMEs) that develop at 1,4 years of age at times imitate epilepsy with myoclonic-astatic seizures with respect to the presence of astatic seizures and an epileptic encephalopathic EEG pattern. In addition, young children with focal cortical dysplasia may also have similar clinical and EEG patterns, although the latter may become localized after treatment. Approximately 15% of patients with juvenile myoclonic epilepsy (JME) are resistant to antiepileptic drugs (AEDs) and may require extensive study to make a differential diagnosis from symptomatic epilepsies. PMEs that develop during adolescence may imitate JME early in the clinical course; however, a detailed history and the differentiation between myoclonic seizures and myoclonus would help to distinguish both conditions. The diagnosis of IGEs is very demanding for patients with atypical features with regard to seizure type, EEG findings, and response to appropriate AEDs. [source] Cluster Headache and Internal Carotid Artery Dissection: Two Cases and Review of the LiteratureHEADACHE, Issue 3 2008Andrea Rigamonti MD We describe 2 patients with cluster headache attacks associated with a dissection of the ipsilateral internal carotid artery at the extra,intracranial passage. These cases highlight the need for extensive neuroradiological investigation in cluster headache patients when atypical features are present. We also performed a PubMed search to review the current literature data about this association. [source] Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1,HUMAN MUTATION, Issue 3 2009Frederick S. Kaplan Abstract Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant human disorder of bone formation that causes developmental skeletal defects and extensive debilitating bone formation within soft connective tissues (heterotopic ossification) during childhood. All patients with classic clinical features of FOP (great toe malformations and progressive heterotopic ossification) have previously been found to carry the same heterozygous mutation (c.617G>A; p.R206H) in the glycine and serine residue (GS) activation domain of activin A type I receptor/activin-like kinase 2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) type I receptor. Among patients with FOP-like heterotopic ossification and/or toe malformations, we identified patients with clinical features unusual for FOP. These atypical FOP patients form two classes: FOP-plus (classic defining features of FOP plus one or more atypical features) and FOP variants (major variations in one or both of the two classic defining features of FOP). All patients examined have heterozygous ACVR1 missense mutations in conserved amino acids. While the recurrent c.617G>A; p.R206H mutation was found in all cases of classic FOP and most cases of FOP-plus, novel ACVR1 mutations occur in the FOP variants and two cases of FOP-plus. Protein structure homology modeling predicts that each of the amino acid substitutions activates the ACVR1 protein to enhance receptor signaling. We observed genotype-phenotype correlation between some ACVR1 mutations and the age of onset of heterotopic ossification or on embryonic skeletal development. Hum Mutat 0, 1,12, 2008. © 2008 Wiley-Liss, Inc. [source] The diagnostic value of barium swallow in globus syndromeINTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 1 2004Daniel Hajioff Summary Serious lesions presenting as globus syndrome appear to be extremely rare, but many clinicians routinely request barium swallow to exclude these. No data yet exist on the diagnostic yield of contrast radiography. We reviewed 2854 barium swallows from one department over 7 years. The false-positive rate (37%) depended on presenting symptoms and differed between radiology departments, suggesting substantial subjectivity. No serious radiological abnormalities occurred in the estimated 2011 patients with globus syndrome. The 95% confidence interval for the likelihood of finding a significant abnormality on routine barium swallow in a patient with globus symptoms is 0,0.00145. The 2854 barium swallows cost an estimated £685,000 and 0.22,0.48 deaths. As the risk of missing a serious lesion in a patient with globus is very unlikely to exceed one in 700, we support the opinion that barium swallow should be reserved for those with risk factors or atypical features. [source] Gastric adenocarcinoma mistakenly diagnosed as an eating disorder: Case reportINTERNATIONAL JOURNAL OF EATING DISORDERS, Issue 3 2010FRANZCP, Leit-Chin Siew MBBS Abstract Objective: A number of organic conditions may mimic the symptoms of an eating disorder, however, gastric outlet obstruction mimicking anorexia nervosa has rarely been reported. Method: We report the case of a 51-year-old female admitted to an eating disorders unit with an initial diagnosis of anorexia nervosa. Results: The patient's upper gastrointestinal symptoms and weight loss were found to be secondary to gastric outlet obstruction from a gastric adenocarcinoma. Coincidental psychosocial stressors and past psychiatric history, among other factors, had confounded the diagnosis. Discussion: Organic causes of weight loss and upper gastrointestinal symptoms need to be fully excluded prior to making the diagnosis of an eating disorder, particularly when there are atypical features in the presentation. © 2009 by Wiley Periodicals, Inc. Int J Eat Disord 2010 [source] Atypical nevi of the scalp in adolescentsJOURNAL OF CUTANEOUS PATHOLOGY, Issue 5 2007Giujeppe Fabrizi Background:, A few reports in the literature point out that in special areas of the body, nevi can have peculiar pseudomelanomatous features. In our routine work, we have met few examples of atypical nevi with peculiar features on the scalp of teenagers. To evaluate the frequency and the biological behaviour of these lesions, we have conducted a complete survey on melanocytic lesions on the scalp in a significant group of patients. Materials and methods:, Thirty-nine nevi of the scalp were from adolescents (12,18 years), 160 from adults, and 30 from children below the age of 12 years. Results:, About 10% of the melanocytic nevi of the scalp of adolescents have atypical cytological and architectural aspects that are different from those seen in Clark's dysplastic nevus. The most striking features were the presence of large bizarrely shaped nests scattered disorderly along the junction with follicular involvement. Other findings were pagetoid spread of cells above the junction and the discohesive pattern of the melanocytes in the nests. Mild cytological atypia was present but less significant. Such distinctive aspects are not found in nevi of the same site in adults or younger children. The general pattern of these atypical nevi of the scalp of adolescents closely recalls that of the so-called atypical nevi on special sites, i.e. nevi on mammary line, genitalia and body's folds. Despite the architectural and cytological atypia, clinical follow-up does not show any tendency to recur or proclivity to malignant behaviour. Conclusions:, Despite their similarities with melanoma, the nevi with atypical features of the scalp of adolescents are probably an entirely benign entity, at least at the moment of their excision. However, although benign, the relationship of this peculiar group of nevi with melanomas developed in adulthood remains entirely unknown, and the complete excision with conservative margins seems a recommendable procedure. [source] Melanocytic nevi of the breast: a histologic case-control studyJOURNAL OF CUTANEOUS PATHOLOGY, Issue 2 2004F. Rongioletti Background:, Melanocytic nevi in the genital, acral, and flexural sites often display clinical and histologic features that may simulate melanoma. We verified whether this is the case also for nevi of the breast. Methods:, Eleven dermatopathologists, from nine Italian Institutions, collected the specimens of melanocytic lesions from the breast and other body sites, excluding the acral, genital, and flexural areas, as controls. Cases and controls were matched for sex and age. All nevi were observed ,blindly' and simultaneously by all participants. For each lesion, 10 histological parameters were analyzed: asymmetry, absence of lateral demarcation of melanocytes, lentiginous proliferation, nested and dyshesive pattern, intraepidermal melanocytes above the basal layer, involvement of the hair follicle, absence of maturation of dermal melanocytes, melanocytic atypia, fibroplasia of the papillary dermis, and lymphocytic dermal infiltrate. Each parameter was scored 2 when present and 1 when absent or not valuable. A total score was calculated for each lesion. Results were statistically analyzed by the chi-square test and the Mann,Whitney U -test. Results:, One hundred and one nevi came from the breast area and 97 from elsewhere. Breast nevi exhibited significantly more atypical features than nevi from other sites. In particular, breast nevi with intraepidermal melanocytes, melanocytic atypia, and dermal fibroplasia were significantly more numerous. We did not find any sexual difference. Conclusions:, To avoid undue concerns, dermatopathologists should be aware that melanocytic nevi of the breast may show a high degree of atypical features. [source] Delimiting perceptual cues used for the ethnic labeling of African American and European American voicesJOURNAL OF SOCIOLINGUISTICS, Issue 1 2004Erik R. Thomas A review of speech identification studies examining the abilities of listeners to distinguish African American and European American voices shows that Americans can recognize many African American voices with a high degree of accuracy even in the absence of stereotypical morphosyntactic and lexical features. Experiments to determine what cues listeners use to distinguish ethnicity have not yielded such consistent results, perhaps suggesting that listeners may access a wide variety of cues if necessary. An experiment involving African Americans with features of a European American vernacular demonstrated that African Americans with atypical features are difficult for listeners to identify. Analysis suggested that vowel quality and intonation could have misled respondents but did not rule out timing and voice quality as factors in identification. [source] Hereditary parkinsonism: Parkinson disease look-alikes,An algorithm for clinicians to "PARK" genes and beyond,,MOVEMENT DISORDERS, Issue 14 2009Christine Klein MD Abstract In the past decade, a number of genetic causes of parkinsonism have been identified. As a consequence, clinicians have to consider an increasing range of differential diagnoses when confronted with a patient with parkinsonism with a positive family history. While well-established monogenic forms with PARK acronyms have been reviewed extensively, less emphasis has been placed on other inherited conditions that may also present with signs of parkinsonism or even mimic idiopathic Parkinson's disease clinically. In this review, we focus on three different scenarios in patients with an overall early age of onset of parkinsonism: (i) atypical features in patients with mutations in one of the "PARK" genes; (ii) classical parkinsonism due to mutations in "other than-PARK" genes or yet other genes where parkinsonism may be a well-recognized, concomitant, or even an isolated feature; (iii) atypical parkinsonism in other genetic disorders which are, however, typically characterized by features other than parkinsonism. Atypical features in patients from Group I include, for example, a slower disease course (PARK2, PARK6, PARK7) or dementia (PARK1/4, PARK14). Conditions in Group II have been designated by a DYT or SCA acronym (for example, DYT5 or SCA3) and also include patients with heterozygous GBA mutations, mitochondrial gene mutations. Group III comprises mutations in the FMR1, MAPT, GRN, ATP7B, PANK2, FBXO7, CHAC, FTL1, Huntingtin, JPH3 genes, and a number of even rarer, miscellaneous conditions. © 2009 Movement Disorder Society [source] ATP13A2 variants in early-onset Parkinson's disease patients and controls,MOVEMENT DISORDERS, Issue 14 2009Ana Djarmati PhD Abstract Four genes responsible for recessively inherited forms of Parkinson's disease (PD) have been identified, including the recently discovered ATP13A2 (PARK9) gene. Our objective was to investigate the role of this gene in a large cohort of PD patients and controls. We extensively screened all 29 exons of the ATP13A2 coding region in 112 patients with early-onset PD (EOPD; <40 years) of mostly European ethnic origin and of 55 controls. We identified four carriers (3.6%) of novel single heterozygous ATP13A2 missense changes that were absent in controls. Interestingly, the carrier of one of these variants also harbored two mutations in the Parkin gene. None of the carriers had atypical features previously described in patients with two mutated ATP13A2 alleles (Kufor,Rakeb syndrome). Our data suggest that two mutated ATP13A2 alleles are not a common cause of PD. Although heterozygous variants are present in a considerable number of patients, they are,based on this relatively small sample,not significantly more frequent in patients compared to controls. © 2009 Movement Disorder Society [source] Very late-onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar typeMOVEMENT DISORDERS, Issue 12 2005José Berciano MD Abstract Very late-onset Friedreich's ataxia (VLOFA) is characterized by symptomatic onset after 40 years of age and, usually, a benign phenotype. We describe a sporadic case with onset at 53 years of age and a novel VLOFA phenotype mimicking multiple system atrophy (MSA) of cerebellar type associated with minimal GAA1 expansion. We detected several atypical features for a diagnosis of MSA, which should alert to the possibility of an inherited ataxia. © 2005 Movement Disorder Society [source] Presynaptic parkinsonism in multiple system atrophy mimicking Parkinson's disease: A clinicopathological case studyMOVEMENT DISORDERS, Issue 4 2002José Berciano PhD Abstract We describe the clinicopathological findings in a patient aged 63 years at death who, at age 55 years, developed levodopa-responsive parkinsonism with no atypical features. A diagnosis of idiopathic Parkinson's disease (PD) was made. During the clinical course, fluctuations and dyskinesias appeared. Eight years after onset, he was successfully treated with subthalamic nucleus stimulation but died 3 weeks postoperatively from pulmonary embolus. Brain autopsy showed marked neuronal loss and gliosis in the substantia nigra and locus coeruleus, and, to a much lesser extent, in the basis pontis, inferior olivary nuclei, and cerebellar cortex. Striatum was normal. There were numerous oligodendroglial and neuronal cytoplasmic inclusions and neuropil threads, the highest density being localized in the pons and cerebellar white matter. No Lewy bodies were observed. We conclude that nigral, presynaptic parkinsonism may occur in multiple system atrophy, which even in the long run can be indistinguishable from PD. Putaminal preservation accounts for good response to both levodopa therapy and subthalamic nucleus stimulation. © 2002 Movement Disorder Society [source] Stress and selective attention: The interplay of mood, cortisol levels, and emotional information processingPSYCHOPHYSIOLOGY, Issue 6 2002Mark A. Ellenbogen The effects of a stressful challenge on the processing of emotional words were examined in college students. Stress induction was achieved using a competitive computer task, where the individual either repeatedly lost or won against a confederate. Mood, attention, and cortisol were recorded during the study. There were four findings: (1) Participants in the negative stressor condition were faster to shift attention away from negative words than positive or neutral words; (2) attentional shifts away from negative words were associated with stress-induced mood lowering; (3) participants in the negative stress condition with elevated scores on the Beck Depression Inventory were slow to disengage attention from all stimuli; and (4) elevated depression scores were associated with lower cortisol change from baseline during the experimental phase, and with higher cortisol levels during the recovery phase. These findings point to information-processing strategies as a means to regulate emotion, and to atypical features of cognitive and adrenocortical function that may serve as putative risk markers of depression. [source] Posterior reversible encephalopathy syndrome: a report of a case with atypical featuresANAESTHESIA, Issue 11 2008J. N. Pratap Summary We report a case of a young woman presenting with profound depression of consciousness and intra-uterine death in the late stages of an unbooked pregnancy. She proceeded to develop features of cardiovascular, renal, hepatic and haematological failures. The patient was challenging to manage in view of uncertainty regarding the underlying cause, and required multidisciplinary consultation. A diagnosis was subsequently made of posterior reversible encephalopathy syndrome in the context of pre-eclampsia. We review the typical presentation and wide-ranging associations of this recently described clinico-neuroradiological syndrome, and look at how appropriate management may lead to rapid resolution of its often life-threatening features. We highlight the importance to anaesthetists and critical care physicians of recognising even atypical cases such as this one in view of key differences in management from similarly presenting conditions. [source] Dermoscopic monitoring of melanocytic skin lesions: clinical outcome and patient compliance vary according to follow-up protocolsBRITISH JOURNAL OF DERMATOLOGY, Issue 2 2008G. Argenziano Summary Background, Dermoscopic monitoring of melanocytic lesions increases the likelihood that featureless melanomas are not overlooked and minimizes the excision of benign lesions. Objective, To examine clinical outcome and patient compliance using different follow-up protocols. Methods, A retrospective analysis of 600 lesions from 405 patients (aged 6,79 years) was performed to examine patient compliance and clinical outcome in patients with multiple atypical melanocytic lesions undergoing sequential dermoscopy imaging during short-, medium- or long-term follow-up. Based on the degree of dermoscopic atypical features, patients were scheduled for short-term monitoring with follow-up after 3 months, medium-term monitoring with follow-up after 6 months or long-term monitoring with annual follow-up. Criteria leading to excision of monitored lesions differed according to the follow-up protocol. Results, In a median follow-up period of 23 months, 54 (9%) lesions were excised, revealing 12 early melanomas (occurring in 3% of monitored patients), one basal cell carcinoma and 41 melanocytic naevi. The melanoma/benign ratio of excised lesions was 1 : 3·4. Seven of 12 melanomas showed changes after two to four visits, corresponding to 8,54 months of follow-up. Patient compliance was 84% for short-term monitoring, 63% for medium-term monitoring and 30% for long-term monitoring. Conclusions, In patients with multiple naevi sequential dermoscopy imaging is a useful strategy to avoid missing melanomas while minimizing unnecessary excision of benign lesions. For better compliance, the first re-examination should be scheduled at 3 months after the baseline visit. Regular annual follow-up monitoring is also needed to detect slow-growing melanomas in which subtle changes may become apparent only over time. [source] Bobble-head doll syndrome: some atypical features with a new lesion and review of the literatureACTA NEUROLOGICA SCANDINAVICA, Issue 3 2003K. B. Bhattacharyya Bobble-head doll syndrome is a rare and unique movement disorder encountered in children. It is characterized by continuous or episodic involuntary forward and backward and side to side movement of the head at the frequency of 2,3 Hz. Neuroimaging in most of the cases reveals third ventricular tumors, suprasellar arachnoid cysts, aqueductal stenosis and other lesions in the region of the third ventricle along with communicating hydrocephalus. In most of the circumstances, the problem starts in the first decade of life and diversion of cerebrospinal fluid by shunt operation is very often accompanied by dramatic improvement. We report one case where bobbing of the head started at around 12 years of age. Additionally, there was evidence of partial left abducens nerve palsy, tremor in the outstretched hands, difficulty in finger-nose test and tandem walking, hyperreflexia and extensor plantar response. He was unconscious on two occasions and there was evidence of gross hydrocephalus along with a thin membranous web, running transversely across the lower part of the aqueduct of Sylvius without any cerebrospinal fluid flow void. Ventriculo-peritoneal shunt abolished the abnormal movements. We propose that the aqueductal web was the offending agent for the pathogenesis of bobble-head doll syndrome in our case and this lesion has not been identified in the cases reported so far. Relevant literature in this regard has also been reviewed. [source] The validity and internal structure of the Bipolar Depression Rating Scale: data from a clinical trial of N-acetylcysteine as adjunctive therapy in bipolar disorderACTA NEUROPSYCHIATRICA, Issue 5 2010Michael Berk Berk M, Dodd S, Dean OM, Kohlmann K, Berk L, Malhi GS. The validity and internal structure of the Bipolar Depression Rating Scale: data from a clinical trial of N-acetylcysteine as adjunctive therapy in bipolar disorder. Background: The phenomenology of unipolar and bipolar disorders differ in a number of ways, such as the presence of mixed states and atypical features. Conventional depression rating instruments are designed to capture the characteristics of unipolar depression and have limitations in capturing the breadth of bipolar disorder. Method: The Bipolar Depression Rating Scale (BDRS) was administered together with the Montgomery Asberg Rating Scale (MADRS) and Young Mania Rating Scale (YMRS) in a double-blind randomised placebo-controlled clinical trial of N-acetyl cysteine for bipolar disorder (N = 75). Results: A factor analysis showed a two-factor solution: depression and mixed symptom clusters. The BDRS has strong internal consistency (Cronbach's alpha = 0.917), the depression cluster showed robust correlation with the MADRS (r = 0.865) and the mixed subscale correlated with the YMRS (r = 0.750). Conclusion: The BDRS has good internal validity and inter-rater reliability and is sensitive to change in the context of a clinical trial. [source] Emotions and the Development of Childhood Depression: Bridging the GapCHILD DEVELOPMENT PERSPECTIVES, Issue 3 2008Pamela M. Cole ABSTRACT,There is a gap between scientific knowledge about typical and atypical emotional development and efforts to identify and serve children's mental health needs. The gap can be bridged with research that integrates clinical perspectives into the study of emotional development. This is illustrated in the current study by discussing typical emotional development in early childhood and how it differs from the atypical features of emotion seen among preschool-aged children with depression. New research directions are suggested that integrate the study of typical emotional development with clinical evidence of risk for and presence of affective disorders in young children. [source] A case of paraneoplastic pemphigus associated with Castleman's disease presenting as erosive lichen planusCLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 8 2009H. L. Tey Summary Paraneoplastic pemphigus (PNP) is a debilitating chronic blistering mucocutaneous disease associated with an underlying neoplasm and a poor prognosis. We present a patient who had been diagnosed and treated for recalcitrant erosive mucocutaneous lichen planus for 3 years with little success. Further investigations established the diagnosis of PNP with underlying Castleman's disease. This case highlights the importance of repeated investigations to exclude PNP in patients with recalcitrant mucosal erosions, especially if atypical features are present. [source] Atypical Clinical Features of Pediatric AppendicitisACADEMIC EMERGENCY MEDICINE, Issue 2 2007Theresa 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] Atypical depression: retrospective self-reporting of treatment effectivenessACTA PSYCHIATRICA SCANDINAVICA, Issue 3 2009G. Parker Objective:, Earlier studies demonstrated that those with atypical depression show a differentially superior response to monoamine oxidase inhibitor (MAOI) antidepressants. This study compares ratings of effectiveness for a range of treatments, amongst depressed subjects with and without atypical features. Method:, In an on-line survey, individuals experiencing likely clinical depression rated symptoms experienced when depressed, including ,atypical features' and the effectiveness of previous treatments. Mean treatment effectiveness ratings were compared amongst those with ,atypical depression' (n = 338) and ,non-atypical depression' (n = 377). Results:, There were few significant differences between the ,atypical depression' and ,non-atypical depression' groups in effectiveness ratings for drug treatments, and none for psychological treatments. The ,atypical depression' group had significantly lower mean effectiveness ratings for some selective serotonin reuptake inhibitor antidepressants. Few respondents had trialed MAOIs. Conclusion:, While MAOIs are rarely prescribed, a range of non-MAOI drug and psychological treatments are of some perceived benefit for depressed patients with atypical features. [source] | |||||||||||||||||||||||||||||||