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Very Rare (very + rare)
Terms modified by Very Rare Selected AbstractsDouble Heterozygosity with Mutations Involving both the GJB2 and GJB6 Genes is a Possible, but very Rare, Cause of Congenital Deafness in the Czech PopulationANNALS OF HUMAN GENETICS, Issue 1 2005P. Seeman Summary Mutations in the GJB2 gene are the most common cause of prelingual, autosomal recessive, sensorineural hearing loss worldwide. Nevertheless, 10% to 50% of patients with prelingual nonsyndromic deafness only carry one mutation in the GJB2 gene. Recently a large 342 kb deletion named ,(GJB6-D13S1830) involving the GJB6 gene was reported in Spanish and French deafness patients, either in a homozygous state or in combination with a monoallelic GJB2 mutation. No data have been reported about the frequency of this mutation in central Europe. Thirteen Czech patients with prelingual nonsyndromic sensorineural deafness carrying only one pathogenic mutation in the GJB2 gene were tested for the presence of the ,(GJB6-D13S1830) mutation. One patient with a GJB2 mutation (313del14) also carried the ,(GJB6-D13S1830). This is the first reported Czech case, and probably also the first central European case, of prelingual deafness due to mutations involving both the GJB2 and GJB6 genes. In addition, the ,(GJB6-D13S1830) was not detected in 600 control chromosomes from Czech individuals with normal hearing. We show that in the Czech Republic the ,(GJB6-D13S1830) is not the second most common causal factor in deafness patients heterozygous for a single GJB2 mutation, and that ,(GJB6-D13S1830) is very rare in central Europe compared to reports from Spain, France and Israel. [source] Multiple fixed drug eruption due to drug combinationCONTACT DERMATITIS, Issue 6 2005A. Yokoyama We report the case of a multiple fixed drug eruption (FDE) after taking 1 g of PL® and 100 mg of levofloxacin (Cravit®) at the same time. Patch tests with PL® alone, levofloxacin alone and the combination of PL® and levofloxacin were all negative on the involved and uninvolved sites. Lymphocytic stimulation tests were also negative for PL® alone, levofloxacin alone and the combination of PL® and levofloxacin. Oral provocation tests with PL®alone or levofloxacin alone produced no reactivation. However, we could provoke multiple erythematous plaques on the involved areas by taking a 1/10th dose of the combination of PL® and levofloxacin at the same time. Drug eruption due to a drug combination appears to be very rare. This is the first case of multiple FDE caused by taking PL® -levofloxacin combination. [source] P03 Type-I and -IV hypersensitivity to platinum saltsCONTACT DERMATITIS, Issue 3 2004Willeke Kamphof A 28-year-old female analytical chemist visited our patch test clinic with initially complaints of severe hand dermatitis. Later on she developed rhinitis, bronchial asthma and tightness of the chest. The complaints seemed work related: her condition improved during holidays and on sick leaves. She worked in a laboratory with several platinum salts and used different kinds of gloves (latex, nitril, etc.). Methods:, Patch tests were performed with the European Standard series and prick tests with common inhalant allergens. Patch-, prick- and open patch tests were carried out with various aqueous dilutions of platinum chloride (PtCl2). Results:, Patch tests with 0.01,2% PtCl2 were positive on day 2, 3 and 6, and at 0.001% a follicular reaction was found. The prick-test was already positive at the lowest concentration tested (0.001%). The open patch test, carried out retro-auricular, showed a positive reaction at 1 and 2% PtCl2 after 20 min. Controls in healthy volunteers (n = 5) were all negative. Discussion:, It is well known that platinum salts can cause type-I hypersensitivity reactions like allergic rhinitis, conjunctivitis, bronchial asthma and urticaria, also referred to as platinosis. Contact dermatitis to platinum salts, however, is very rare. In our patch test clinic, 78 patients were tested between 1987 and 2001 with PtCl2 2%. Only 2 women showed a positive patch test for PtCl2. The patient presented here, stopped working with platinum salts and recovered from all complaints. We interpret our case as occupational type-I and type-IV hypersensitivity to platinum salts with mucosal and dermal manifestations. [source] Morpheaform Basal Cell Carcinoma in African AmericansDERMATOLOGIC SURGERY, Issue 12p2 2004Uma Nadiminti MD Background. Although it has been established that basal cell carcinoma is an uncommon diagnosis in black patients, the morpheaform subtype is very rare among these individuals. Objective. The objective is to present two cases of morpheaform basal cell carcinoma in African-American patients. Methods. This is a case series and a literature review using the Ovid Medline Database. Key words used in the search include "basal cell carcinoma,""African American,""black,""African,""negros,""morpheaform,""sclerosing,""fibrosing," and "scar-like basal cell carcinoma." The Ovid Medline Database was searched from 1966 to present and was restricted to the English language. Results. A review of the Emory Dermatology clinic charts from 1989 to 2004 revealed two black patients with morpheaform basal cell carcinomas. Conclusions. Although extremely rare, morpheaform pattern basal cell carcinoma must be considered in the differential diagnosis for black patients presenting with nonhealing lesions. [source] Probable trigeminal autonomic cephalgia in a 3-month-old male infantDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 4 2010IRENE VAZ To my knowledge trigeminal autonomic cephalgias (TACs) have not previously been reported in infancy. The diagnosis is dependent on an accurate history, including parents noting any physical signs at the time of the episode. Obtaining a clear history can be challenging when such symptoms occur in preverbal children. Similarly, physical signs, being transient, may have resolved by the time the parents take the child to a doctor. In addition, the investigations may also be normal. In such circumstances, taking a photograph during an episode can confirm the diagnosis. I describe a case of probable trigeminal autonomic cephalgia starting in a 3-month-old male infant who presented with screaming episodes associated with characteristic changes seen on his face. Investigations, including cranial magnetic resonance imaging, electroencephalography, and urinary catecholamines, were normal. The diagnosis was confirmed from a photograph taken by the parents at the time of the attack. As the condition is very rare in young children, there is little information available in the literature on using treatment for prophylaxis or for aborting acute episodes in this age group. [source] Fine-needle aspiration cytology of subcutaneous toxoplasmosis: A case reportDIAGNOSTIC CYTOPATHOLOGY, Issue 10 2010Xiaowei Chen M.D. Abstract Toxoplasmosis is a common opportunistic infection in patients with AIDS in whom it typically presents as encephalitis, pneumonia, lymphadenitis, and myocarditis. Skin involvement is very rare and, to our best knowledge, Toxoplasma gondii forming a subcutaneous mass has not been reported. Here, we report the findings of an interesting case of subcutaneous toxoplasmosis with the cytological appearance of an inflammatory fibrovascular lesion in a HIV-positive patient and discuss the differential diagnosis. Diagn. Cytopathol. 2010;38:716,720. © 2009 Wiley-Liss, Inc. [source] Effusion cytomorphology and immunocytochemistry of malignant melanoma: Five cases of melanotic melanoma and one case of amelanotic melanomaDIAGNOSTIC CYTOPATHOLOGY, Issue 7 2009I.A.C., Katsuhide Ikeda C.T. Abstract Effusion cytological analyses of amelanotic malignant melanoma (AMM) are very rare and no concise description of AMM related cytomorphologic features using effusion have been reported. Here, we report the cytomorphological, immunohistochemical, and immunocytochemical findings in the effusion cytology of six cases of malignant melanoma (MM), one case of AMM, and five cases of melanotic malignant melanoma. Papanicolaou-stained smears exhibited conspicuous nucleoli, multinucleation, and cytoplasmic vacuolization in all of the MM cases. In addition, the AMM case displayed numerous mitotic figures and intranuclear cytoplasmic inclusions. With regard to the immunohistochemistry findings, all six cases of melanoma were positive for Melan-A/MART-1, HBME-1, and S-100. In the immunohistochemistry analyses, five of six cases of melanoma were positive for WT-1, as was the AMM specimen. Furthermore, because the effusion analysis of malignant mesothelioma proved positive for WT-1, it should be noted that WT-1 effusion analysis is not an appropriate means to distinguish between MM and malignant mesothelioma. We suggest that it is important to recognize cytomorphologic characteristics, such as melanin pigment, conspicuous nucleoli, multinucleation, and cytoplasmic vacuolization, and to choose appropriate antibodies for the correct diagnosis of MM in effusion. Diagn. Cytopathol., 2009. © 2009 Wiley-Liss, Inc. [source] Intrapancreatic schwannoma diagnosed by endoscopic ultrasound-guided fine-needle aspiration cytologyDIAGNOSTIC CYTOPATHOLOGY, Issue 2 2009Shaoying Li M.D. Abstract Schwannoma is a tumor of neuro-ectodermal origin, usually occuring in the head and neck and extremities. A retroperitoneal, and particularly intra-pancreatic presentation is very rare, and poses a clinical and diagnostic challenge. We report a case of a male patient who underwent an Endoscopic Ultrasound-guided Fine Needle Aspiration (EUS-FNA) biopsy of a hypoechoic, intra-pancreatic mass. The onsite cytological evaluation was consistent with a spindle cell neoplasm. Further evaluation, aided by immunohistochemical stains, defined the mass as a Schwannoma. The patient then underwent a pancreaticoduodenectomy and the histopathological diagnosis of the surgical specimen confirmed the cytological diagnosis. To our knowledge, this is the first report of intra-pancreatic Schwannoma diagnosed preoperatively by EUS-FNA cytology. Diagn. Cytopathol. 2009. © 2008 Wiley-Liss, Inc. [source] Granular cell tumor of the neurohypophysis: Report of a case with intraoperative cytologic diagnosisDIAGNOSTIC CYTOPATHOLOGY, Issue 1 2008Maria Luisa C. Policarpio-Nicolas M.D. Abstract Cytological techniques including touch and smear preparations are very useful diagnostic modality in the evaluation of central nervous system (CNS) lesions and, in many instances, may be effectively used as the sole modality of tissue preparation for intraoperative consultation. Cytologic preparations offer many advantages over frozen sections for CNS specimens. These include selective examination of multiple areas from small biopsy specimens, superior preservation and details of cellular morphology, fewer artifacts, faster results, and improved cost-effectiveness. We describe the cytologic diagnosis of a granular cell tumor (GCT) of the neurohypophysis in a 33-year-old male who presented with headache and blurred vision. CT scan revealed an enlarged sella with a 2.15 × 2.0 cm pituitary lesion. Transsphenoidal resection of the mass was performed and submitted for intraoperative consultation. Smears and touch preparations were made on a portion of the mass that showed uniform polygonal cells with round to ovoid nuclei and abundant eosinophilic granular cytoplasm. An intraoperative cytological diagnosis of "favor GCT" was rendered. The histologic sections of the remaining material confirmed the diagnosis. Although GCT of the neurohypophysis is very rare, a specific intraoperative cytological diagnosis is possible. We report the clinical, cytological, and pathological findings of a GCT affecting the neurohypophysis. Diagn. Cytopathol. 2008;36:58,63. © 2007 Wiley,Liss, Inc. [source] Unsuspected systemic amyloidosis diagnosed by fine-needle aspiration of the salivary gland: Case reportDIAGNOSTIC CYTOPATHOLOGY, Issue 1 2004Ph.D., Tamar Giorgadze M.D. Abstract Amyloidosis of the head and neck region may represent a local amyloidoma or a manifestation of systemic disease. Involvement of major salivary glands by either primary or secondary forms of amyloidosis is very rare. We describe a case of systemic amyloidosis that initially presented as submandibular gland mass and was diagnosed by fine-needle aspiration (FNA). A 69-year-old male presented with submandibular mass. His past medical history was significant for left forearm melanoma that was excised 6 years ago and tricuspid valve endocarditis after valvular replacement 3 months prior to FNA of the submandibular gland. The patient had no symptoms or clinical and laboratory data suggestive of amyloidosis. FNA specimen showed salivary gland tissue and abundant amorphous material, which stained positive for amyloid with Congo red stain and showed typical birefringence when examined by polarized microscopy. Further workup of the patient revealed generalized amyloidosis with multiorgan involvement by the disease. This case demonstrates that FNA can be a useful technique in the diagnosis of unsuspected amyloidosis. Diagn. Cytopathol. 2004;31:57,59. © 2004 Wiley-Liss, Inc. [source] ENDOSCOPIC REMOVAL OF AN ENTEROLITH CAUSING AFFERENT LOOP SYNDROME USING ELECTROHYDRAULIC LITHOTRIPSYDIGESTIVE ENDOSCOPY, Issue 3 2010Hwa Jong Kim Electrohydraulic lithotripsy is a very useful method for fragmenting biliary stones and it can be used for endoscopic removal of difficult biliary stones. Acute afferent loop syndrome induced by enterolith is very rare, and surgical treatment is the usual choice for this condition. We describe a patient with acute afferent loop syndrome, which was induced by an enterolith after a Billroth II gastrectomy. We used electrohydraulic lithotripsy to endoscopically remove the enterolith. [source] SUPERFICIAL ESOPHAGEAL SQUAMOUS CELL CARCINOMA WITH BULKY GASTRIC HIATUS LYMPH NODE METASTASIS: A CASE REPORTDIGESTIVE ENDOSCOPY, Issue 4 2009Yoshiaki Takahashi In patients with superficial esophageal cancer, especially in those with tumor invasion above the muscularis mucosae, lymph node metastasis is very rare. We report a case of superficial esophageal cancer who presented with lymph node metastasis. In another hospital a 49-year-old man was found to have a bulky tumor adjacent to the cardiac area of the stomach and a total gastrectomy was carried out. Postoperatively, the tumor was identified as a lymph node containing metastatic squamous cell carcinoma. The main lesion could not be identified on fluorodeoxyglucose positron emission tomography. On esophagogastric endoscopy, using the iodine spray technique, we found an unstained lesion about 32 cm from the incisor teeth. The tumor was removed using endoscopic mucosal resection. The entire resected specimen was examined histopathologically; the depth of the tumor was above the muscularis mucosae. Thirty-four months after endoscopic mucosal resection, there is no sign of tumor recurrence or metastasis. [source] Combined treatment of achalasia , botulinum toxin injection followed by pneumatic dilatation: long-term resultsDISEASES OF THE ESOPHAGUS, Issue 2 2010R. Kroupa SUMMARY Injection of botulinum toxin (BT) and pneumatic dilatation are available methods in nonsurgical treatment of achalasia. Authors anticipate beneficial effect of prior BT injection on the success of pneumatic dilatation and duration of its effect. There are no long-term data available to assess efficacy of combined treatment. From 1998 to 2007, 51 consecutive patients (20 men and 31 women, age 24,83) with achalasia were included and prospectively followed up. Each patient received injection of 200 IU of BT into the lower esophageal sphincter (LES) during endoscopy and 8 days later pneumatic dilatation (PD) under X-ray control was performed. The follow-up was established every 3 months first year and then annually. The efficacy was evaluated by a questionnaire concerning patient's symptoms and manometry. Results were compared with 40 historical controls (16 men and 24 women, age 26,80) treated by PD alone using the same method and follow-up. Fifty-one patients underwent combined treatment. Four patients failed in follow-up and were not included for analysis. The mean duration of follow-up was 48 months with range 12,96 months. Thirty-four of forty-seven (72%) patients were satisfied with results with none or very rare and mild troubles at the time of the last visit. Forty-one patients were followed up more than 2 years. Effect of therapy lasted in 75% (31/41) of them. In 17 patients, more than 5 years after treatment, effect lasted in 12 (70%). Mean tonus of LES before therapy was 29 mm Hg (10,80), 3 months after therapy decreased to 14 mmHg (5,26). The cumulative 5 years remission rate (±95% CI) in combined treated patients 69% ± 8% was higher than in controls 50% ± 9%; however it, was not statistically significant (P= 0.07). In control group 1, case of perforation (2.5%) occurred. Eight patients (17%) with relapse of dysphagia were referred to laparoscopic Heller myotomy with no surgical complication. The main adverse effect was heartburn that appeared in 17 patients (36%). Initial injection of BT followed by PD seems to be effective for long-term results with fewer complications. But the combined therapy is not significantly superior to PD alone. [source] Esophageal cancer associated with right aortic arch: Report of two casesDISEASES OF THE ESOPHAGUS, Issue 4 2003H. Noguchi SUMMARY, Esophageal carcinoma associated with a right aortic arch is very rare. In such cases, the dissection of right paratracheal lymph nodes is difficult. Herein, we report two cases of thoracic esophageal carcinoma with right aortic arch, for which the left door open method was used to provide a good surgical view. Postoperative chemotherapy and radiotherapy were used for both cases and no evidence of recurrence or metastasis has been noted in the 24-month postoperative period. [source] Relative importance of different dispersal vectors for small aquatic invertebrates in a rock pool metacommunityECOGRAPHY, Issue 5 2008Bram Vanschoenwinkel The extent and frequency of passive overland dispersal of freshwater invertebrates as well as the relative importance of different dispersal vectors is not well documented. Although anecdotal evidence subscribing the feasibility of individual vectors in various aquatic systems is abundant, dispersal rates have rarely been quantified for different vectors in one study system. Earlier studies also usually investigated dispersal potential rather than actual dispersal rates. In this study we have estimated passive dispersal rates of invertebrate propagules within a cluster of temporary rock pools via water, wind and amphibians in a direct way. Overflows after heavy rains mediated dispersal of a large number of propagules through eroded channels between pools, which were collected in overflow traps. Taking into account model based predictions of overflow frequency, this corresponds with average dispersal rates of 4088 propagules/channel yr,1. Wind dispersal rates as measured by numbers of propagules collected on sticky traps mounted between pool basins were very high (average dispersal rate: 649 propagules m,2 in one month) and were positively related to the proximity of source populations. Finally, invertebrate propagules were also isolated from the faeces of African clawed frogs Xenopus laevis caught from the pools (on average 368 propagules/frog). The combination of short distance wind and overflow dispersal rates likely explain the dominant species sorting and mass effect patterns observed in the metacommunity in a previous study. Amphibian mediated dispersal was much less important as the Xenopus laevis population was small and migrations very rare. Based on our own results and available literature we conclude that both vector and propagule properties determine local passive dispersal dynamics of freshwater invertebrates. Accurate knowledge on rates and vectors of dispersal in natural systems are a prerequisite to increase our understanding of the impact of dispersal on ecology (colonisation, community assembly, coexistence) and evolution (gene flow, local adaptation) in fragmented environments. [source] Patterns of commonness and rarity in central European birds: reliability of the core-satellite hypothesis within a large scaleECOGRAPHY, Issue 4 2002David Storch The frequency distribution of species' area of occupancy is often bimodal, most species being either very rare or very common in terms of number of occupied sites. This pattern has been attributed to the nonlinearity associated with metapopulation dynamics of the species, but there are also other explanations comprising sampling artifact and frequency distribution of suitable habitats. We tested whether the bimodal frequency distribution of occupied squares in central European birds could be derived solely from the frequency distribution of species population sizes (i.e. the sampling artifact hypothesis) or from the spatial distribution of their preferred habitats. Both models predict high proportion of very common species, i.e. the right side of frequency distribution. Bimodality itself is well predicted by models based on random placement of individuals according to their abundances but neither model predicts the observed prevalence of rare species. Even the combined models that assume random placement of individuals within the squares with suitable habitat do not predict such a high proportion of rare species. The observed distribution is more aggregated, rare species occupying a smaller portion of suitable habitat than predicted on the basis of their abundance. The pattern is consistent with metapopulation processes involving local population extinctions. The involvement of these processes is supported by two further observations. First, species rarity is associated with significant population trend and/or location on the edge of their ranges within central Europe, both situations presumably associated with metapopulation processes. Second, suitable habitats seem to be either saturated or almost unoccupied, which is consistent with the predictions of the metapopulation model based on nonlinear dynamics of extinction and colonization. Although the habitat suitability is an important determinant of species distribution, the rarity of many species of birds within this scale of observation seems to be affected by other factors, including local population extinctions associated with fragmentation of species' habitats. [source] Methadone and impairment in apprehended driversADDICTION, Issue 3 2009Jean-Paul Bernard ABSTRACT Aims According to Norwegian guidelines, patients who are in opioid-assisted rehabilitation programmes are permitted to drive a motor vehicle provided that certain requirements are met. The purpose of this study was to investigate apprehended drivers who had methadone in their blood at the time of apprehension and, further, the relationship between blood methadone concentration and impairment as measured by the clinical test of impairment (CTI). Methods The division of Forensic Toxicology and Drug Abuse (DFTDA) at the Norwegian Institute of Public Heath analyses blood samples from all drivers suspected of driving under the influence of drugs nation-wide. Cases with positive results for methadone in blood were collected over the period 2001,2006. Results A total of 635 drivers with methadone found in their blood samples were identified. The majority of drivers were men (>80%), aged between 30 and 40 years. Methadone was the only psychoactive drug detected in blood in only 10 cases. Benzodiazepines were a frequent finding (in approximately 90% of cases). A significant difference in blood methadone concentration was found between cases where only methadone was detected [median 0.46 mg/l (range 0.19,0.65)] and cases where methadone was detected in combination with other psychoactive drugs [median 0.28 mg/l (range 0.06,1.24)]. A CTI had been carried out, in conjunction with blood sampling, in 577 of the cases. A concentration,impairment relationship was not seen for methadone in these cases. Conclusions Cases of driving impairment involving methadone alone were very rare, with combination use most frequent. No correlation between methadone concentration and impairment as judged by the CTI was seen either for these cases or for the material as a whole. [source] A case of late-onset dependence on cocaine and crackADDICTION, Issue 4 2007Christos Kouimtsidis ABSTRACT Aims To raise awareness among the professional clinical and research community of the risk of cocaine misuse among elderly patients. Methods Case report of a male patient, aged 72 years, who presented to a community substance misuse service with cocaine use disorder (hydrochloride and base form). Results The development of the disorder was marked by high levels of cocaine (and later crack cocaine use), repeated periods of abstinence followed by relapse in the past 4 years, with severe consequences to the patient and his family. Treatment involved a close collaboration between several specialist addictions and old-age psychiatry teams in National Health Service. Implications Although dependence on cocaine among the elderly is considered very rare, clinical management can be challenging and is likely to require the involvement of several specialist and general health services. [source] Mast cell tumours (mastocytosis) in the horse: A review of the literature and report of 11 casesEQUINE VETERINARY EDUCATION, Issue 4 2008T. S. Mair Summary Mast cell tumours are uncommon tumours in horses, compared to some other species of domesticated animals. They are most frequently located in the skin, but they can also arise at other sites, including the upper respiratory tract and eye. Cytology or histopathology is required for diagnosis. Treatment options include surgical excision, laser ablation, cryotherapy, intralesional injection of corticosteroids or water, and radiotherapy. Malignant and systemic forms are very rare. [source] Isostructural Potassium and Thallium Salts of Sterically Crowded Thio- and Selenophenols: A Structural and Computational StudyEUROPEAN JOURNAL OF INORGANIC CHEMISTRY, Issue 36 2008Denis Bubrin Abstract Because of their similar cationic radii, potassium and thallium(I) compounds are usually regarded as closely related. Homologous molecular species containing either K+ or Tl+ are very rare, however. We have synthesized potassium and thallium salts MEAr* [M, E = K, S (2a); K, Se (2b); Tl, S (3a); Tl, Se (3b); Ar* = 2,6-Trip2C6H3, Trip = 2,4,6- iPr3C6H2] derived from terphenyl-substituted thio- and selenophenols. In the solid-state structures of dimeric 2a, 2b, 3a, and 3b additional metal-,n,,-arene interactions to the flanking arms of the terphenyl substituents of different hapticity n are observed. Remarkably, the homologous potassium and thallium complexes 2b and 3b crystallize in isomorphous cells. For 2a, 3a, and model complexes of the composition METph (Tph = C6H4 -2-Trip) the nature of the M,E and M···C(arene) bonding was studied by density functional theory calculations.(© Wiley-VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2008) [source] Correlation of anatomy and function in medulla oblongata infarctionEUROPEAN JOURNAL OF NEUROLOGY, Issue 2 2009C. Eggers Background:, A presentation of all aspects of the dorsolateral medulla oblongata syndrome is clinically very rare to find. In most cases patients present with fragmentary symptoms, e.g. ipsilateral axial lateropulsion, nystagmus, dysarthria, dysphagia or hemiataxia. However, the clinical presentation and lesion anatomy at the level of the medulla oblongata is still unsatisfactory. The aim of this study was to correlate the functional deficit with structural MRI-data. Methods:, We included thirteen patients (eight male, five female, mean age 65.5) with medulla oblongata infarction with clinically predominant ipsilateral axial lateropulsion and correlated clinical with structural deficits. Results:, Magnetic resonance imaging lesion mapping demonstrated ipsilateral axial lateropulsion to result from lesions of the spinocerebellar tract, the inferior cerebellar peduncle or the inferior vestibular nucleus. Nystagmus was associated with lesions of the inferior vestibular nucleus, dissociated sensory loss with the spinothalamic tract and hemiataxia with the spinocerebellar tract. Conclusions:, Correlating dysfunction and lesion anatomy is a promising approach to enhance our knowledge on medulla oblongata topography. [source] Reduced plasticity of cortical whisker representation in adult tenascin-C-deficient mice after vibrissectomyEUROPEAN JOURNAL OF NEUROSCIENCE, Issue 6 2004Anita Cybulska-Klosowicz Abstract The effect of the extracellular matrix recognition molecule tenascin-C on cerebral plasticity induced by vibrissectomy was investigated with 2-deoxyglucose (2DG) brain mapping in tenascin-C-deficient mice. Unilateral vibrissectomy sparing row C of vibrissae was performed in young adult mice. Two months later, cortical representations of spared row C vibrissae and control row C on the other side of the snout were visualized by [14C]2DG autoradiography. In both wild-type and tenascin-C-deficient mice, cortical representation of the spared row was expanded in all layers of the barrel cortex. However, the effect was significantly more extensive in wild-type animals than in the mutant. Elimination of tenascin-C by genetic manipulation thus reduces the effect of vibrissectomy observed in the somatosensory cortex. No increase in number of fibres in the vibrissal nerve of spared vibrissae was seen, and occurrence of additional nerve to the spared follicle was very rare. Thus, in tenascin-C-deficient mice functional plasticity seems to be impaired within the CNS. [source] Differences in Local Environment Determine the Site of Physiological Angiogenesis in Rat Skeletal MuscleEXPERIMENTAL PHYSIOLOGY, Issue 5 2003I. Badr The specificity in location of angiogenesis to either glycolytic or oxidative fibre types, or muscle regions, was examined in the tibialis anterior (TA) and extensor digitorum longus (EDL) muscles of rat. Angiogenesis was induced by mechanical means either with (chronic muscle stimulation) or without (muscle stretch by overload) changes in blood flow, treatments which invoked only minor changes in fibre type and fibre size. Proliferation estimated by PCNA labelling of cells co-localised with capillaries was very rare in control muscles, where it occurred mainly in the glycolytic regions, but was increased in both models of angiogenesis. However, when labelled capillaries were scored according to the type of surrounding fibres, only muscle stimulation significantly accentuated proliferation of capillaries surrounded by glycolytic fibres. We conclude that while mechanical stimuli are important for proliferation in glycolytic regions in both models, capillary growth occurs specifically around glycolytic fibres in that region when the angiogenic stimulus includes increased blood flow and/or increased metabolic demand. [source] Would a Flat-Rate Tax Stimulate Entrepreneurship in Germany?FISCAL STUDIES, Issue 2 2009A Behavioural Microsimulation Analysis Allowing for Risk H24; J23; L26; D81 Abstract When potential income tax reforms are debated, the suspected impact on entrepreneurship is often used as an argument in favour of or against a certain policy. Quantitative ex-ante evaluations of the effect of certain tax reform options on entrepreneurship are very rare, however. This paper estimates the ex-ante effects of the German tax reform 2000 and of two hypothetical flat-rate tax scenarios on entries into and exits out of self-employment based on a structural microsimulation model with econometrically estimated transition rates under risk. The simulation results indicate that flatter tax systems do not encourage people to choose self-employment, but rather discourage them from doing so. This is explained by the reduction of entrepreneurs' income risk through progressive taxation. [source] Identification of NUP98 abnormalities in acute leukemia: JARID1A (12p13) as a new partner geneGENES, CHROMOSOMES AND CANCER, Issue 5 2006Laura J. C. M. van Zutven Chromosome rearrangements are found in many acute leukemias. As a result, genes at the breakpoints can be disrupted, forming fusion genes. One of the genes involved in several chromosome aberrations in hematological malignancies is NUP98 (11p15). As NUP98 is close to the 11p telomere, small translocations might easily be missed. Using a NUP98 -specific split-signal fluorescence in situ hybridization (FISH) probe combination, we analyzed 84 patients with acute myeloid leukemia (AML), acute lymphoblastic leukemia, or myelodysplastic syndrome with either normal karyotypes or 11p abnormalities to investigate whether there are unidentified 11p15 rearrangements. Neither NUP98 translocations nor deletions were identified in cases with normal karyotypes, indicating these aberrations may be very rare in this group. However, NUP98 deletions were observed in four cases with unbalanced 11p aberrations, indicating that the breakpoint is centromeric of NUP98. Rearrangements of NUP98 were identified in two patients, both showing 11p abnormalities in the diagnostic karyotype: a t(4;11)(q1?3;p15) with expression of the NUP98,RAP1GDS1 fusion product detected in a 60-year-old woman with AML-M0, and an add(11)(p15) with a der(21)t(11;21)(p15;p13) observed cytogenetically in a 1-year-old boy with AML-M7. JARID1A was identified as the fusion partner of NUP98 using 3, RACE, RT-PCR, and FISH. JARID1A, at 12p13, codes for retinoblastoma binding protein 2, a protein implicated in transcriptional regulation. This is the first report of JARID1A as a partner gene in leukemia. © 2006 Wiley-Liss, Inc. [source] Strong seasonal disequilibrium measured between the oxygen isotope signals of leaf and soil CO2 exchangeGLOBAL CHANGE BIOLOGY, Issue 11 2010LISA WINGATE Abstract The oxygen isotope composition (,18O) of atmospheric CO2 is among a very limited number of tools available to constrain estimates of the biospheric gross CO2 fluxes, photosynthesis and respiration at large scales. However, the accuracy of the partitioning strongly depends on the extent of isotopic disequilibrium between the signals carried by these two gross fluxes. Chamber-based field measurements of total CO2 and CO18O fluxes from foliage and soil can help evaluate and refine our models of isotopic fractionation by plants and soils and validate the extent and pattern of isotopic disequilibrium within terrestrial ecosystems. Owing to sampling limitations in the past, such measurements have been very rare and covered only a few days. In this study, we coupled automated branch and soil chambers with tuneable diode laser absorption spectroscopy techniques to continuously capture the ,18O signals of foliage and soil CO2 exchange in a Pinus pinaster Aït forest in France. Over the growing season, we observed a seasonally persistent isotopic disequilibrium between the ,18O signatures of net CO2 fluxes from leaves and soils, except during rain events when the isotopic imbalance became temporarily weaker. Variations in the ,18O of CO2 exchanged between leaves, soil and the atmosphere were well explained by theory describing changes in the oxygen isotope composition of ecosystem water pools in response to changes in leaf transpiration and soil evaporation. [source] Benign parathyroid cyst causing vocal fold paralysis: A case report and review of the literatureHEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 6 2006Daniel H. Coelho MD Abstract Background. Parathyroid cysts are uncommon, frequently asymptomatic lesions of the neck and superior mediastinum. Symptomatic parathyroid cysts are very rare, with roughly only 200 cases reported in the literature. Of these, only nine cases have been reported with recurrent laryngeal nerve (RLN) paralysis Methods. We report a case of a 49-year-old man initially seen with a 6-month history of worsening hoarseness. Physical examination revealed a palpable 3-cm, firm, smooth, nontender mass of the right thyroid lobe. Fiberoscopic laryngoscopy showed right vocal cord immobility consistent with RLN paralysis. After CT and fine-needle aspiration of the mass, the patient underwent a right thyroid lobectomy. During surgery, the recurrent laryngeal nerve was found to be stretched and adherent to a right inferior lobe mass. Results. Histologic analysis of the surgical specimen revealed a benign parathyroid adenomatous cyst. Postoperatively, the patient's voice improved markedly. This case represents an extremely rare return of function of the RLN after cyst removal. Conclusion. Parathyroid cysts should be included in the differential diagnosis for vocal fold paralysis. © 2006 Wiley Periodicals, Inc. Head Neck 28:564,566, 2006 [source] 2-Hydroxytorularhodin, a New Xanthophyll from the Red Yeast Sporobolomyces coprosmaeHELVETICA CHIMICA ACTA, Issue 11 2005Roland A new hydroxylated carotenoic acid was isolated from the red yeast Sporobolomyces coprosmae and unambiguously identified as 2-hydroxytorularhodin (1), i.e., (all-E)-3,,4,-didehydro-2-hydroxy- ,,, -caroten-16,-oic acid, by application of extensive 1D and 2D NMR techniques (gCOSY, gHSQC, gHMBC, DQS, gTOCSY, and ROESY). Hydroxylation of carotenoids at C(2) is uncommon in nature, very rare in fungi, and unprecedented for torularhodin. [source] Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures,,HUMAN MUTATION, Issue 3 2005Angela M. Kaindl Abstract Microdeletion syndromes are commonly transmitted as dominant traits and are frequently associated with variably expressed pleiotropic phenotypes. Nonlethal homozygous microdeletions, on the other hand, are very rare. Here, we delineate the fifth and so far largest homozygous microdeletion in nonmalignancies of approximately 400 kb on chromosome 4q11-q12 in a large consanguineous East-Anatolian family with six affected patients. The deleted region contains the beta-sarcoglycan gene (SGCB), the predicted gene SPATA18 (spermatogenesis associated 18 homolog) and several expressed sequence tags. Patients presented with a severe and progressive Duchenne-like muscular dystrophy phenotype, a combination of hyperlaxity and joint contractures, chest pain, palpitations, and dyspnea. © 2005 Wiley-Liss, Inc. [source] Movement characteristics of the Scarce Blue-tailed Damselfly, Ischnura pumilioINSECT CONSERVATION AND DIVERSITY, Issue 1 2010KATHERINE A. ALLEN Abstract., 1. The Scarce Blue-tailed Damselfly, Ischnura pumilio, is threatened in the UK and exists in small, transient colonies. Consequently, little is known about its dispersal characteristics. This study investigates movement in two contrasting habitats with the aim of informing conservation management on a landscape scale. 2. Mark-release-recapture studies were performed at an established colony in the New Forest and a smaller population in the Red River valley in southern England. A total of 2304 individuals was marked. 3. Ischnura pumilio was found to be exceptionally sedentary. Mean gross lifetime movement was 56 m and 43% of individuals moved <50 m in their lifetime. Movements over 150 m were very rare. Maximum lifetime movement was 1165 m. As such, I. pumilio is the most sedentary odonate studied in the UK to date. 4. Movement was inversely density dependent, which has important conservation implications if individuals attempt to emigrate from small populations because of low density. The presence of parasitic mites (Hydryphantes sp.) significantly increased movement distance. 5. Ischnura pumilio had a low dispersal probability compared to other damselflies. As the smallest British odonate, this is in keeping with the relationship between size and dispersal found across taxa. 6. Ischnura pumilio has been regarded as a ,wandering opportunist' due to its tendency to appear in locations far from known sites. However, this study suggests that long range movement rarely occurs from prime habitat that is maintained in an early successional stage. This has implications for the conservation of the species in the UK. [source] | ||||||||||||||||||||||||||||||||||||||||||||||