Atypical Way Research Articles

Posterior reversible encephalopathy syndrome presenting as papilledema

Posterior reversible encephalopathy syndrome (PRES) is a central nervous system pathology characterized by headaches, altered mental status, seizures, and visual loss. The syndrome is a clincoradiologic diagnosis, which mandates neuroimaging. The aim of this study is to describe a case of asymptomatic PRES in which the only sign was incidental papilledema found on ophthalmologic examination. A thin 19-year-old female G1P1 s/p natural spontaneous vaginal delivery was referred to our emergency department (ED) by the ophthalmology clinic after finding bilateral papilledema on fundoscopic examination. She denied any fevers, chills, nausea, vomiting, as well as headache, lightheadedness, visual changes, or blurriness. Lumbar puncture was performed, and opening pressure was found to be greater than 55 cmH2O. After collecting Cerebrospinal fluid (CSF) for routine analysis, approximately 15 to 20 mL of CSF was drained. After several revisits to the ED, the neurology clinic was consulted. The magnetic resonance imaging ordered by the neurology clinic, as read by the radiologist, showed a focal lesion in splenium of the corpus callosum and diffusion restriction suggestive of acute infarction (although the anatomical location and age would be unusual). This is an atypical manifestation of PRES. The myriad of clinical symptoms and presentations of PRES has become more identifiable as more case reports of the syndrome are published. This case demonstrates that this atypical syndrome may present in an atypical way. The patient may be asymptomatic, and although imaging defines the diagnosis, a complete physical examination must not be ignored because the only sign may be papilledema.

Clinical presentation of childhood neuroborreliosis; neurological examination may be normal

ObjectiveNeuroborreliosis has its highest incidence in children and the older people. Signs and symptoms are different between the different age groups. The aim of this study was to describe the...

Inhibition of PARP activity by PJ‐34 leads to growth impairment and cell death associated with aberrant mitotic pattern and nucleolar actin accumulation in M14 melanoma cell line

The capability of PARP activity inhibitors to prevent DNA damage recovery suggested the use of these drugs as chemo- and radio-sensitisers for cancer therapy. Our research, carried out on cultured human M14 melanoma cells, was aimed to examine if PJ-34, a potent PARP activity inhibitor of second generation, was per se able to affect the viability of these cancer cells without any DNA damaging agents. Using time-lapse videomicroscopy, we evidenced that 10 microM PJ-34 treatment induced severe mitotic defects leading to dramatic reduction of cell proliferation and to cell death. PJ-34 cytotoxic effect was further confirmed by analysis of cell viability and clonogenic assay. Absence of canonic apoptosis markers allowed us to exclude this kind of cell death. No single and/or double stranded DNA damage was evidenced. Immunofluorescence analysis showed an aberrant mitotic scenario in several cells and subsequent multinucleation suggesting an atypical way for cells to die: the mitotic catastrophe. The detection of aberrant accumulation of polymerised actin inside the nucleolus was noteworthy. Taken together, our results demonstrate that, targeting PARP activity by PJ-34, cancer cell survival is affected independently of DNA damage repair. Two findings are remarkable: (a) cisplatin concentration can be reduced by three quarters if it is followed by treatment with 10 microM PJ-34 for 24 h to obtain the same cytotoxic effect; (b) effects dependent on PJ-34 treatment are reversible. Our data suggest that, to reduce the harm done to non-tumour cells during chemotherapy with cisplatin, the latter could be coupled with PJ-34 treatment.

Genitogluteal Porokeratosis: 10 Years to Make the Diagnosis!

Genitogluteal porokeratosis, a relatively rare presentation of porokeratosis of Mibelli, often manifests in an atypical way due to its verrucous appearance that may obscure the characteristic annular keratotic rim. For this reason, misdiagnosis as other common papulosquamous diseases is not uncommon. We report a 44-year-old man with a 10-year-history of slowly progressive pruritic psoriasiform/lichenified plaques over the buttocks. Despite multiple skin biopsies, the lesions were misdiagnosed as psoriasis, lichen simplex chronicus, pityriasis rubra pilaris, and mycosis fungoides, until the last biopsy revealed findings characteristic of porokeratosis. Dermatologists and dermatopathologists should be aware of this rare and unique variant of porokeratosis, which, in addition to the atypical clinical presentation and the occasional misleading histology, may portend a better prognosis in terms of malignant degeneration.

An Atypical Presentation of Obsessive Compulsive Disorder with Difficulty in Hearing

Obsessive compulsive disorder (OCD) is a common psychiatric disorder which is easily recognized. However, sometimes patients of OCD present in such an atypical or bizarre way that their problem comes to notice as being a psychiatric disorder after multiple consultations in different specialties. We are reporting a case of a man who had first sought opinion in the Department of Ear, Nose and Throat (ENT) for hearing impairment. He was then referred to a neurologist and a general physician for evaluation of neurological cause of his symptom. As no pathology related to ENT or neurology could be detected, he was referred to the Department of Psychiatry. The patient's chief complaints were difficulty in hearing and inability to understand at once. He could be diagnosed as a case of OCD after meticulous evaluation and studying his response to treatment. There was significant improvement in all the presenting symptoms over a period of 6 weeks on 60 mg of fluoxetine.

Metformin and Insulin Meet in a Most Atypical Way

A recent Cell paper by He et al. (2009) shows how metformin circumvents a block between insulin and atypical protein kinase C in obese and diabetic mice to inhibit gluconeogenesis by stimulating the phosphorylation of CBP and the disassembly of the CREB transcriptional complex.

Orthographic and Phonological Pathways in Hyperlexic Readers With Autism Spectrum Disorders

Children with Autism Spectrum Disorders (ASD) often present poor text comprehension relative to their ability to read individual words. Some of them have been considered hyperlexic because of their oustanding word-reading abilities. Although it has been suggested that these children access word reading in an atypical way, there is conflicting evidence on their use of phonological and orthograhic pathways. Fourteen adolescents with ASD with word reading to text comprehension discrepancy and 12 typically developing children, all matched on word reading and chronological age, were administered different lexical and sublexical tasks exploring semantic, orthographic, and phonological word representations and processes. No differences were found on any of the tasks between the children with ASD and the typically developing group. The children with ASD were further subdivided into two groups matched on word reading, one with outstanding word reading rela0tive to verbal IQ and another with word reading consistent with verbal IQ. The first group outperformed the second on tasks involving lexical orthographic and phonological representation. However, they were no different on sub-lexical phonological processing, on rapid naming or working, and short-term memory tasks.

In vivo bicarbonate requirement for water oxidation by Photosystem II in the hypercarbonate-requiring cyanobacterium Arthrospira maxima

While the presence of inorganic carbon in the form of (bi)carbonate has been known to be important for activity of Photosystem II (PSII), the vast majority of studies on this “bicarbonate effect” have been limited to in vitro studies of isolated thylakoid membranes and PSII complexes. Here we report an in vivo requirement for bicarbonate that is both reversible and selective for this anion for efficient water oxidation activity in the hypercarbonate-requiring cyanobacterium Arthrospira (Spirulina) maxima, originally isolated from highly alkaline soda lakes. Using a non-invasive internal probe of PSII charge separation (variable fluorescence), primary electron acceptor (QA-/QA) reoxidation rate, and flash-induced oxygen yield, we report the largest reversible bicarbonate effect on PSII activity ever observed, which is due to the requirement for bicarbonate at the water-oxidizing complex. Temporal separation of this donor side bicarbonate requirement from a smaller effect of bicarbonate on the QA- reoxidation rate was observed. We expect the atypical way in which Arthrospira manages intracellular pH, sodium, and inorganic carbon concentrations relative to other cyanobacteria is responsible for this strong in vivo bicarbonate requirement.

When phonology fails: Orthographic neighbourhood effects in dyslexia

Both cerebral hemispheres contain phonological, orthographic and semantic representations of words, however there are between-hemisphere differences in the relative engagement and specialization of the different representations. Taking orthographic processing for example, previous studies suggest that orthographic neighbourhood size ( N) has facilitatory effects in the right but not the left hemispheres. To pursue the nature of this asymmetric N effect, in particular whether there are individual differences in such specialisation, we examined N in a case of developmental dyslexia, FM. We first describe the nature of his difficulties, which are mainly severe phonological deficits. Employing the divided visual field paradigm with FM revealed a greater sensitivity in the right than in the left hemisphere to orthographic variables, with a significant inhibitory N effect in the left, but not right hemisphere. Such inhibition, to a lesser degree, was found among a group of adults with dyslexia but not among age-matched normal readers. We argue that enhanced sensitivity to orthographic cues is developed in some cases of dyslexia when a normal, phonology-based left hemisphere word recognition processing is not achieved. The interpretation presented here is cast in terms of differences between people with dyslexia and typical readers that originate in the atypical way in which orthographic representations are initially set up.

Interpretation of Shotgun Proteomic Data

The shotgun proteomic strategy based on digesting proteins into peptides and sequencing them using tandem mass spectrometry and automated database searching has become the method of choice for identifying proteins in most large scale studies. However, the peptide-centric nature of shotgun proteomics complicates the analysis and biological interpretation of the data especially in the case of higher eukaryote organisms. The same peptide sequence can be present in multiple different proteins or protein isoforms. Such shared peptides therefore can lead to ambiguities in determining the identities of sample proteins. In this article we illustrate the difficulties of interpreting shotgun proteomic data and discuss the need for common nomenclature and transparent informatic approaches. We also discuss related issues such as the state of protein sequence databases and their role in shotgun proteomic analysis, interpretation of relative peptide quantification data in the presence of multiple protein isoforms, the integration of proteomic and transcriptional data, and the development of a computational infrastructure for the integration of multiple diverse datasets.

Denial and Avoidance in an Unusual Case of Death from Breast Cancer

Dear Editor: We recently encountered the case of a woman who died in an atypical way as a result of coping with a breast mass by denial and avoidance. The patient, aged 48 years and white, lived at home with her husband and 2 young children. For 4 to 6 weeks preceding her death, she isolated herself from her family in the basement, explaining that she had personal issues that she was handling alone. She continued to work at her job, where her coworkers noted that she had become withdrawn. She was later found dead in the basement, surrounded by blood-soaked, foulsmelling clothing and gauze. There was a penetrating injury of the right breast and chest wall. An autopsy revealed that the injury was from a large ulcerated breast carcinoma, which eroded the chest wall and opened a large artery. There was no evidence of metastasis, which is the most common cause of death from breast cancer (1,2). Death owing to hemorrhage occurs in only approximately 9% of breast cancer patients (1,2) and is usually a complication of progressive disease. Death from a localized and usually curable primary tumor such as this one is most unusual. We believe the patient's denial and avoidance of her disease were psychosocial factors leading to this atypical mechanism of death from breast cancer. Denial can impede a woman's willingness to undergo screening examination (3). A substantial number of women may not recognize a breast abnormality on their own, before it is found by screening (4,5). They may use avoidant coping mechanisms that prevent them from checking for potential disease (4). Women who experience denial prior to disease identification are also more likely to maintain that denial later in the course of disease (5). After a diagnosis of breast cancer, a woman may experience denial based on fear of changes in self-image or sexuality or on concerns about the effect of the disease on her relationships with her partner or children (6). Coping strategies after diagnosis tend to assume a proactive character (3,7,8), however, and may include such activities as acceptance, positive reframing, use of religion, expressing emotion, adopting a fighting spirit, seeking support, asserting self-control, or diverting energy to other matters (7-9). While proactive coping strategies may seem to caregivers to be more productive in dealing with a serious disease, denial is not inherently a poor coping strategy. It can provide relief of psychological distress during difficult periods of treatment (3,7) and may be associated with remaining recurrence-free or experiencing prolonged duration of survival in women with local disease (3,10,11). …

Los Angeles and American Studies in a Pacific World of Migrations

In this essay Henry Yu argues for using migration to re-imagine American studies. He begins by observing how Los Angeles is notable for the atypical way in which it is usually understood as a place of origin, with its most famous inhabitants often having come from somewhere else. This rootless sense of belonging, rather than making Los Angeles an aberration, can serve as a model for understanding how migration defines local places. Using family migration as an illustrative example, Yu charts how movements of human bodies occur along paths that are routed within larger networks and patterns. Yu also argues that national histories of immigration and incorporation have often blinded us to the complex operations of these migration processes. Ideas about national belonging have dominated historical and social scientific scholarship, framing much of the knowledge regarding who counts as an American citizen and why. In particular, he charts how Los Angeles as a site for intersecting migrations provides an interesting model for understanding how regional migration patterns have marked United States history. By sketching regional patterns, Yu embeds the United States within larger processes of migration in both the Pacific and Atlantic worlds. Such migration patterns, and the particular nodes of intersection that they created, have generated ideas about belonging, shaping definitions of race, ethnicity, citizenship, and alien status.

Invagination intestinale aiguë révélant une maladie cœliaque chez un nourrisson de neuf mois

In most cases bowel intussusception is idiopathic in children. Indirect causes, such as celiac disease, are rare. Case report. – A nine-month-old girl was admitted for a bowel intussusception diagnosed by ultrasonography, yet not confirmed by barium enema. The girl underwent a thorough check up, due to a loss of weight and denutrition symptoms which evidenced immunoglobulin A anti-gliadin, immunoglobulin G anti-gliadin, immunoglobulin A anti-endomysium and antireticuline positive antibodies. Celiac disease was confirmed by bowel biopsy, which revealed a subtotal villous atrophy. Evolution was favourable under a gluten free diet. Comments. – The description of a bowel intussusception associated with celiac disease is common. This observation appears to be the earliest case ever described : the patient was only nine months old. The initial procedure is routine : diagnosis by ultrasonography, therapeutic enema and surgery only in case of failure of medical treatment. Intussusception associated with celiac disease often presents in an atypical way : elementary forms, spontaneously resolvent and recidivious. The knowledge of this clinical set of symptoms leads to an early diagnosis of celiac disease. The gluten free diet prevents the recurrence of intussusception.

Cannabis‐induced Koro in Americans

Koro, an acute panic reaction related to the perception of penile retraction, was once considered limited to specific cultures. The disorder has appeared as part of a panic response to cannabis, but only in citizens of India. This study looked for cannabis-induced Koro in Americans. Given the relative rarity of cannabis-induced Koro, this work focused on individual case studies. Over 70 men responded by phone to report negative reactions to cannabis. Three of them (Caucasians aged 22-26 with years of experience with cannabis) spontaneously mentioned experiencing symptoms of Koro after smoking marijuana. All three cases occurred after participants had heard about cannabis-induced Koro and used the drug in a novel setting or atypical way. Two of the men had body dysmorphia, which may have contributed to symptoms. All three decreased their cannabis consumption after the Koro experience. Koro, particularly cannabis-induced Koro, is not limited to Eastern cultures. Several factors may interact to create symptoms. These include previous knowledge of cannabis-induced Koro, the use of marijuana in a way that might heighten a panic reaction, and poor body image. In addition, these cases confirm previous work that shows that negative reactions to drugs can attenuate their use.

Diagnostic problems in patients with benign paroxysmal positional vertigo

The steps of the examination procedure applied for a correct diagnosis of benign paroxysmal positional vertigo (BPPV) are reviewed. A precise diagnosis is important in view of treatment of this type of vertigo by rehabilitation therapy. Clinical experience supports the concept that the diagnosis has to be based not only on a typical history, but also on the presence of a reproducible vertigo and paroxysmal positioning nystagmus. In the procedure applied in the department, this nystagmus can be reproduced by the Dix-Hallpike maneuver under Frenzel's glasses, during electronystagmography (ENG) recording in the position tests, or it can be present in the vestibular habituation training test battery (a battery of 19 maneuvers applied for defining the adequate exercises in the rehabilitation treatment for BPPV). Analysis of the reviewed data in 95 patients showed that one third of the patients described the vertigo in a rather atypical way, while the further testing revealed a typical BPPV. This experience denies any absolute reliability to only history. In fact, only the finding of such a paroxysmal positioning nystagmus is conclusive for confirming BPPV. However, also the presence of such a nystagmus appeared not to be a constant datum, so that in some patients more than one examination was necessary to come to a reliable diagnosis. It is obvious that, for detecting a paroxysmal positioning nystagmus, ENG is less reliable than the Dix-Hallpike maneuver under Frenzel's glasses.

Polytopes (35) and (335) as frustrated spin systems with non-random interactions

A new method of construction of the Hamiltonian for uniformly frustrated spin systems is proposed. In the XY case the method leads to the model which is equivalent to the well known uniformly frustrated XY model but it is more general than the latter because it makes sense for the three-dimensional spins as well. In this paper the method has been used in an atypical way because the author studies two unreal spin systems. In the first system, spins are placed on the vertices of the polytope (35) which form, in the curved space S2, a two-dimensional triangular lattice with a fivefold symmetry axis. In the second system, spins are placed on the vertices of the polytope (335) which form, in the curved space S3, a three-dimensional lattice with icosahedral symmetry. In the same way as other workers, the author interested in the polytope (335) because of a topological similarity between fragments of it and fragments of amorphous materials. Using the Monte Carlo technique the author has calculated the temperature dependence of the mean energy and specific heat for both ferromagnetic and antiferromagnetic interactions. The ground states of both systems have been found too. Moreover some low-lying metastable states have been found for the icosahedral spin system.

The Charles Bonnet Syndrome associated with vascular pathology – a classical presentation with a very atypical course

AbstractWe present a case of the Charles Bonnet syndrome the onset of which appears to have been associated with vascular pathology. The syndrome typically involves the appearance of mute, colourful and pleasing visual images with the retention of insight into their hallucinatory nature. However, the case progressed in a very atypical way and a system of paranoid delusions developed around the visual hallucinations. The syndrome is reviewed and the possible reasons for the atypical course discussed.

The Effects of Microenvironment on the Redifferentiation of Regenerating Neurones: Neurite Architecture, Acetylcholine Receptors and Ca2+ Channel Distribution

Severed adult neurones, which are capable of regrowth, encounter different microenvironments from those encountered during development. Moreover, adult neurones may respond in a different manner from developing neurones to the same environmental cues. Thus, the recovery of the integrative and transmission capabilities (which depend on the neuronal architecture, passive and active membrane properties, and synaptic receptor distribution) by a regenerating adult neurone may not be complete. In the present review, we examine several aspects of the outcome of the interaction between the microenvironment and regrowing neurones using the cockroach giant interneurones (GINs) as a model system. We demonstrate that whereas extrinsic cues govern the morphological redifferentiation and distribution of synaptic receptors, the distribution of voltage-dependent Ca2+ channels is to a large extent determined by intrinsic factors. The pathway of regrowth and the architecture of regenerating GINs were studied by examination of intracellularly stained fibres. The environments provided by the connectives and ganglia are different. The elongating sprouts in the connective appeared as smooth cylinders. Within the ganglionic domain, the main longitudinal sprouts emitted neurites which extended and branched into the neuropile. The local cues for branching of neurites were eliminated by freezing and thawing of the ganglia prior to the arrival of the growing tips. The failure to extend neurites under these conditions is attributed to the elimination of extrinsic signals for morphological redifferentiation of the fibres, since the same fibres emit neurites in anterior ganglia which have not been subjected to freezing and thawing. The distribution of acetylcholine receptors (AChRs) on the GINs was mapped by ionophoretic application of ACh. In both the intact and regenerating GINs receptors were located only on the neurites. Freezing and thawing of a ganglion eliminated the local signals for insertion and/or activation of AChRs on the neurites. Thus, both the morphological redifferentiation and the distribution of AChRs are affected by the microenvironment. Voltage-dependent Ca2+ channels were detected after intracellular injection of tetraethylammonium into the GIN and in the presence of tetrodotoxin (TTX) and Ba2+ in the extracellular space. The regrowing axon tips always revealed large barium action potentials independent of the CNS microenvironment. This observation is consistent with the hypothesis that Ca2+ plays an important role in the growth process. However, increased Ba2+ responsiveness was also observed in axonal segments proximal to the region of neuronal extension.(ABSTRACT TRUNCATED AT 400 WORDS)

Hormones and age

AbstractEndocrine disorders may present in an atypical way in old people and are often mistaken for ageing itself. Ageing produces a variety of changes in endocrine function, most of which are minor and of little clinical relevance in contrast to the significant morbidity and mortality associated with endocrine disease in the elderly. Nearly all systems may be affected in the elderly and the possibility of underlying hormonal dysfunction should not be overlooked, because of the opportunities for curative treatment. In most instances the investigations employed to diagnose endocrine disorders in the elderly are similar to those used in younger patients. However, ageing and multiple pathology have an important effect upon the biochemical effects of both thyroid disease and diabetes and so these are considered in more detail.

Phonological processing during silent reading in aphasic patients

In a task involving the detection of a predesignated letter during the silent reading of a series of passages, left-brain-damaged aphasic patients and right-brain-damaged patients showed patterns of performance consistent with those of normal individuals. Both of the brain-damaged groups were more likely to detect letters when they were pronounced in a typical way (e.g., g in “ago”) than in an atypical way (e.g., g in “through”), suggesting the use of phonological recoding during silent reading. In addition, both of thse groups were more likely to detect letters when they occurred in content than in function words, suggesting a differential processing of these word types. Possible differences in the strategies predominantly relied on for phonological recoding and for the differential processing of content and function words by different groups of patients are discussed.