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1.
Mogamat-Yazied Chothia Kiran George Muhammed Sheik Mogamat Razeen Davids 《Journal of medical case reports》2018,12(1):381
Background
Hypernatremia is a very common electrolyte disorder and is frequently encountered in out-patient as well as in-hospital settings. We describe an adult who was found to have unexplained relative polycythemia and episodic hypernatremia. A diagnosis of idiopathic hypodipsic-hypernatremia syndrome was made and the patient was managed with a water-drinking schedule.Case presentation
A 24-year-old South African-Indian man was found to have polycythemia in association with episodes of hypernatremia. Investigations indicated that he had relative polycythemia. He experienced no thirst at a time when his serum sodium concentration was found to be 151?mmol/L. Further testing indicated that his renal response to arginine vasopressin was intact and magnetic resonance imaging of his brain revealed no hypothalamic lesions. A diagnosis of idiopathic hypodipsic-hypernatremia syndrome was made and he was managed with a water-drinking schedule that corrected his hypernatremia.Conclusion
Hypodipsia should always be considered when a patient without physical or cognitive disability presents with unexplained episodic hypernatremia or with relative polycythemia.2.
Laurence Taine Isabelle Coupry Pierre Boisseau R. Saura Didier Lacombe Benoît Arveiler 《Human genetics》1998,102(2):178-181
Mutations in ion channels have been shown to be responsible for a variety of neurological and muscular diseases. The voltage-gated
chloride channel CLCN3 was recently mapped to chromosomal region 4q32. We are analysing a young female patient with Wolf-Hirschhorn
syndrome and chorea associated with an inversion-deletion of chromosome 4 [46XX,inv(4)del(4)(qter→q33:: p15.32→q33]. Considering
that chorea in this patient might be due to the disruption of a gene at either of the 4p15.32 or 4q33 breakpoints, CLCN3 was
considered as a candidate gene. We showed by FISH analysis with a CLCN3 YAC that the gene was not broken by the inv-del event,
and was therefore an unlikely candidate. Using high resolution techniques, we refined the localisation of CLCN3 to 4q33.
Received: 15 June 1997 / Accepted: 5 November 1997 相似文献
3.
The authors describe a 19 year old male with an isolated but absolute erythrocytosis with iron deficiency without evidence for polycythemia vera as well as another causes of erythrocytosis. The polycythemia was due to a recently described von Hippel-Lindau (VHL) mutation. By stopping iron therapy there was no more requirements for phlebotomy in this patient. 相似文献
4.
Alterations in 3H-GABA binding in Huntington's chorea. 总被引:1,自引:0,他引:1
3H-GABA binding was measured in the caudate nucleus, putamen, parietal cortex and cerebellar cortex of control patients and patients with Huntington's chorea. The density of 3H-GABA binding in the parietal cortex was similar in both patient groups. In the striatal regions there was a significant large (70–80 percent) decrease in the density of GABA binding which is consistent with the severe atrophy and cell loss observed in these regions. In contrast the membranes prepared from the cerebellar cortex exhibited both an increased binding capacity (at 25 nM 3H-GABA) and an apparently increased affinity (decreased KD) for 3H-GABA. The decreased capacity of the striatum to bind 3H-GABA may partially explain the reported lack of clinical efficacy of GABAmimetic compounds in Huntington's chorea. 相似文献
5.
F M Puca S Genco M G Minervini L M Specchio V Napoletano B Brancasi F Reggio 《Bollettino della Società italiana di biologia sperimentale》1984,60(5):989-992
In previous researches spontaneous nocturnal sleep in chronic chorea showed short total sleep time, prolonged sleep latency, several awakenings, reduction of REM sleep time, decrease in slow waves sleep, strong increase in sleep spindles. Some of these alterations improved after therapy with lithium, haloperidol and lithium, pimozide. Since the concentration of GABA has been found to be reduced in patients with Huntington's chorea, we studied the effect of sodium valproate, a drug that enhances GABA inhibition in cerebral cortex, on nocturnal sleep of six patients with chronic chorea, aged 35 to 60 years (mean 47,3). Nocturnal polygraphic records (EEG, EOG, EMG of chin muscles) were carried out after two consecutive adjustative nights, both before therapy and after sixty days of treatment with sodium valproate (800-2000 mg four times a day, orally). Moreover, chorea, finger dexterity and gait were each rated once a week by three members of the research team and by one independent observer, using a five points rating scale from 0 (normal) to 4 (very severely abnormal). Before therapy the sleep parameters were in accordance with our previous results in chronic choreic patients. After two months therapy we observed a statistically significant (P less than 0.05) reduction of awakenings and of wake time. Sodium valproate produced no objective change in any of the parameters of motor function studied. If singularly examined, however, a reduction of chorea was obtained only in a patient, whose favourable response to therapy was also demonstrated by the normalization of other sleep parameters. These data stress the importance of sleep study in extrapyramidal disorders and suggest a different involvement of GABA-mediated transmission in various patients with chronic chorea. 相似文献
6.
ObjectiveTo report a case of reversible chorea in a woman with myxedema coma.MethodsWe describe the clinical course, imaging findings, and laboratory test results of a patient who initially presented with myxedema coma and then developed reversible chorea upon treatment.ResultsA 33-year-old woman with a known history of primary hypothyroidism presented with a 3-week history of lethargy, progressing to a precipitous decline in consciousness that required intubation. Physical examination revealed concurrent hypothermia and bradycardia. Laboratory investigations demonstrated a thyrotropin concentration greater than 100 mIU/L, a free triiodothyronine concentration of 1.9 pg/mL, and a free thyroxine concentration of 0.24 ng/dL, but no other metabolic abnormalities. She was treated with intravenous levothyroxine therapy on the first 2 days of hospital admission (200 mcg and 250 mcg, respectively). On day 2, she was obeying commands and she was extubated. She began exhibiting choreiform movements. Thyroid function test results revealed a normal free thyroxine concentration (1.10 ng/dL), but an elevated thyrotropin concentration (40.98 mIU/L) and a low free triiodothyronine concentration (1.9 pg/mL). Findings from computed tomography and magnetic resonance imaging of her brain and analysis of cerebrospinal fluid were normal. Her regimen was transitioned to oral levothyroxine, 88 mcg daily, and by day 4, her choreiform movements ceased.ConclusionsNeurologic manifestations of hypothyroidism include psychomotor slowing, memory deficits, and dementia, with myxedema coma at the extreme of this spectrum. Although chorea is a rare manifestation of hyperthyroidism, this is the first report of a patient with acquired, reversible choreiform movement disorder while still being severely hypothyroid and treated with levothyroxine. (Endocr Pract. 2012;18:e43-e48) 相似文献
7.
Wesley S. Moore F. William Blaisdell Albert D. Hall 《The Western journal of medicine》1964,100(2):92-96
The presenting manifestations of polycythemia vera are often complications involving the vascular system. These include myocardial infarction, cerebro-vascular accidents and ischemic changes in the extremities.The concept of increased atherogenesis in cases of polycythemia vera has been questioned. A possible mechanism by which small, otherwise subclinical atheromatous plaques produce ischemic symptoms in patients with polycythemia vera is discussed. The blood in polycythemic patients has been shown to have an increased viscosity resulting in a prolonged circulation time. If a small atheromatous plaque is present in association with increased blood viscosity, this combination may well produce ischemic symptoms. This explains why treatment of polycythemia vera, with restoration of blood to normal viscosity, often reverses the patient''s ischemic symptoms.Two cases of polycythemia vera here reported, in which the presenting manifestations were gangrenous extremities, emphasize the need for prompt diagnosis and treatment of polycythemia vera. In the first case, early recognition and treatment of polycythemia vera successfully reversed the ischemic changes in the extremities, while failure of early recognition and treatment in the second case resulted in two major amputations. 相似文献
8.
Huntington's chorea is an autosomal dominant disease of the nervous system. Fibroblasts of one such case obtained from the Genetic Mutant Repository have a normal growth rate when compared with an age, sex and passage number matched human fibroblast cell line obtained from the same source. However, when the culture medium is depleted of nutrients and non-essential amino-acids added either individually or in combination, the Huntington's chorea fibroblasts show a dependence for glucosamine in the culture medium for cell survival and replicative capacity. Glutamine cannot be used in place of glucosamine. In fact, there is a further increment of cell morphology and number deterioration by Huntington's chorea but not normal fibroblasts when glutamine is added to depleted cultures. 相似文献
9.
Spontaneous coronary artery dissection is a rare cause of myocardial ischemia or sudden cardiac death. We describe a patient with polycythemia vera and a chronic spontaneous coronary artery dissection who was treated with successful angioplasty and long stenting. 相似文献
10.
Dr. H.P. Nguyen M.D. 《Medizinische Genetik》2013,25(2):221-227
Huntington disease (HD) is the main cause for hereditary chorea and is characterized by the clinical triad of motor abnormalities, psychiatric symptoms and cognitive decline. Several other genetic disorders, named Huntington disease-like (HDL) syndromes, are known to present with an HD phenotype, and it is difficult to distinguish them from HD. These rare diseases have been named HDL1 to HDL4 and pathogenic mutations in the PRNP gene have been identified for HDL1, whereas mutations in the JPH3 gene cause HDL2 and mutations in the TBP gene cause HDL4 (SCA17). Furthermore, a multitude of diseases can present with a HD phenotype, although other symptoms are usually predominant. These disorders (e.g. SCA, DRPLA, neuroferritinopathy, chorea-acanthocytosis, benign chorea) have to be considered in the differential diagnoses if an HD mutation cannot be confirmed in an index patient with characteristic HD symptoms. In this article an overview of the main disorders that can present with an HD phenotype are given. Diagnostic indicators that may help with the differential diagnosis are also highlighted. 相似文献
11.
Silverio Perrotta Valeria Cucciolla Marcella Ferraro Luisa Ronzoni Annunziata Tramontano Francesca Rossi Anna Chiara Scudieri Adriana Borriello Domenico Roberti Bruno Nobili Maria Domenica Cappellini Adriana Oliva Giovanni Amendola Anna Rita Migliaccio Patrizia Mancuso Ines Martin-Padura Francesco Bertolini Donghoon Yoon Josef T. Prchal Fulvio Della Ragione 《PloS one》2010,5(8)
Background
Gain-of-function of erythropoietin receptor (EPOR) mutations represent the major cause of primary hereditary polycythemia. EPOR is also found in non-erythroid tissues, although its physiological role is still undefined.Methodology/Principal Findings
We describe a family with polycythemia due to a heterozygous mutation of the EPOR gene that causes a G→T change at nucleotide 1251 of exon 8. The novel EPOR G1251T mutation results in the replacement of a glutamate residue by a stop codon at amino acid 393. Differently from polycythemia vera, EPOR G1251T CD34+ cells proliferate and differentiate towards the erythroid phenotype in the presence of minimal amounts of EPO. Moreover, the affected individuals show a 20-fold increase of circulating endothelial precursors. The analysis of erythroid precursor membranes demonstrates a heretofore undescribed accumulation of the truncated EPOR, probably due to the absence of residues involved in the EPO-dependent receptor internalization and degradation. Mutated receptor expression in EPOR-negative cells results in EPOR and Stat5 phosphorylation. Moreover, patient erythroid precursors present an increased activation of EPOR and its effectors, including Stat5 and Erk1/2 pathway.Conclusions/Significance
Our data provide an unanticipated mechanism for autosomal dominant inherited polycythemia due to a heterozygous EPOR mutation and suggest a regulatory role of EPO/EPOR pathway in human circulating endothelial precursors homeostasis. 相似文献12.
Kirvan CA Cox CJ Swedo SE Cunningham MW 《Journal of immunology (Baltimore, Md. : 1950)》2007,178(11):7412-7421
Sydenham's chorea is a CNS disorder and sequela of group A streptococcal infection where deposition of Abs in brain may result in movement and neuropsychiatric abnormalities. We studied human mAbs 24.3.1, 31.1.1, and 37.2.1 derived from chorea and selected for cross-reactivity with group A streptococci and brain Ags. Our novel findings reveal that Sydenham's chorea mAbs target a 55-kDa brain protein with an N-terminal amino acid sequence of MREIVHLQ corresponding to beta-tubulin. Chorea mAb specificity for purified brain tubulin was confirmed in ELISA and Western immunoblot, and significant levels of anti-tubulin IgG were found in acute chorea sera and cerebrospinal fluid. Lysoganglioside G(M1) inhibited binding of chorea mAbs to tubulin and mAb reactivity with human caudate and putamen brain sections was blocked by anti-tubulin mAb. The chorea mAbs labeled both intra- and extracellular Ags of a neuronal cell line providing evidence suggesting mimicry between intracellular brain protein tubulin and extracellular lysoganglioside. In addition, chorea mAb 24.3.1 and acute chorea sera induced calcium/calmodulin-dependent protein kinase II activity in human neuronal cells. Nucleotide sequence analysis of the chorea mAb V(H) genes revealed that mAb 24.3.1 V(H) gene was encoded by the V(H)1 germline gene family which encodes other anti-ganglioside V(H) genes associated with motor neuropathies. mAb recognition of tubulin and the neuronal cell surface with initiation of cell signaling and dopamine release supports an emerging theme in autoimmunity whereby cross-reactive or polyreactive autoantibodies against intracellular Ags recognize cell surface epitopes potentially leading to disease. 相似文献
13.
Stanevicha V Eglite J Zavadska D Sochnevs A Shantere R Gardovska D 《Arthritis research & therapy》2007,9(3):R58
The HLA system is being paid more and more attention because it is very significant in polymorphous immunological reactions.
Several studies have suggested that genetic susceptibility to rheumatic fever (RF) and rheumatic heart disease (RHD) is linked
to HLA class II alleles. We hypothesized that HLA class II associations within RHD may be more consistent if analysed amongst
patients with a relatively homogeneous clinical outcome. A total of 70 RF patients under the age of 18 years were surveyed
and analysed in Latvia. HLA genotyping of DQA1, DQB1 and DRB1 was performed using PCR with amplification with sequence-specific
primers. We also used results from a previous study of DQB1 and DRB1 genotyping. In the RF patients, HLA class II DQA1*0401
was found more frequently compared to DQA1*0102. In the RF homogeneous patient groups, DQA1*0402 has the highest odds ratio.
This is also the case in the multivalvular lesion (MVL) group, together with DQA1*0501 and DQA1*0301. In the chorea minor
patients, DQA1*0201 was often found. Significant HLA DQA1 protective genotypes were not detected, although DQA1 genotypes
*0103/*0201 and *0301/*0501 were found significantly and frequently. In the distribution of HLA DRB1/DQA1 genotypes, *07/*0201
and *01/*0501 were frequently detected; these also occurred significantly often in the MVL group. The genotype *07/*0201 was
frequently found in Sydenhamn's chorea patients that had also acquired RHD, but DRB1*04/DQA1*0401 was often apparent in RF
patients without RHD. In the distribution of HLA DQA1/DQB1 genotypes, both in RF patients and in the homogeneous patient groups,
the least frequent were *0102/*0602-8. The genotype DQA1*0501 with the DQB1 risk allele *0301 was often found in the MVL group.
The genotype *0301/*0401-2 was frequently found in the RF and Sydenhamn's chorea patient groups. The haplotype *07-*0201-*0302
was frequently found in RF and homogeneous patient groups, including the MVL group. In addition, haplotypes *04-*0401-*0301
and *04-*0301-*0401-2 were frequent amongst patients with Sydenhamn's chorea. The protective alleles DQA1*0102 and DQB1*0602-8
in the haplotype DRB1*15 were less frequently found in RF patients. The results of the present study support our hypothesis
and indicate that certain HLA class II haplotypes are associated with risk for or protection against RHD and that these associations
are more evident in patients in clinically homogeneous groups. 相似文献
14.
In the course of a continuing search for means of predicting Huntington''s chorea before the onset of neurological symptoms, a study of fingerprint patterns was undertaken, using the technique employed by Hodges and Simon in the investigation of patients with Wilson''s disease. Fingerprint patterns of 61 patients with Huntington''s chorea and 50 with Parkinson''s disease were compared with norms established by Scotland Yard. Although an increased incidence of the “whorl” pattern was seen in the left second and third fingers in patients with Huntington''s chorea, this finding could not be interpreted as having diagnostic or prognostic value as it was found also in some normal subjects and in occasional cases of Parkinson''s disease. The pattern supposedly characteristic of Wilson''s disease was also seen in persons with Huntington''s chorea. 相似文献
15.
Donald Riddoch Michael Jefferson Edwin R. Bickerstaff 《BMJ (Clinical research ed.)》1971,4(5781):217-218
The case histories are reported of six women who developed chorea while taking oral contraceptive drugs. The chorea that results from taking compounds containing oestrogen and progestogen has many features in common with chorea gravidarum, and the pathogenesis is probably similar. In some of the patients, however, the sudden onset of symptoms suggests a vascular aetiology. 相似文献
16.
A cytogenetic analysis of blood and bone marrow cells of 15 polycythemia vera patients was carried out at different stages of disease during the G-banding technique. Chromosome aberrations of single character were noted before treatment only in one case, i.e. with the patient at stage II of disease. Cell clones with marker chromosomes were revealed in 6 of 9 patients examined in the course of treatment at stages II and III. The cytogenetic analysis was applied to the terminal stage of polycythemia (blast crisis) in one case, when 3 aberrant clones with multiple quantitative and structural chromosome rearrangements were discovered in blood cell cultures with and without PHA. No preferential involvement of definite chromosomes in aberrations was noticed in all the cases examined, no deletion of the 20q --chromosome being discovered. The role of the treatment in the induction of chromosome aberrations is discussed in addition to its dependence on the stage of disease. It is possible that all the clones of pathological character may appear during the long-termed course of polycythemia in patients treated at more serious stages of the disease. 相似文献
17.
Sixteen patients with Huntington''s chorea were treated for periods as long as 8 months with levodopa. The condition of none of the patients improved; in fact, there appeared to be an exacerbation of chorea and dementia in addition to undesirable behavioural changes. Therefore, future use of levodopa in these patients is not warranted. The postulated association of low homovanillic acid values in cerebrospinal fluid and favourable response to levodopa therapy was not borne out. 相似文献
18.
H. Wajcman J. Kister M. Marden A. Lahary M. Monconduit F. Galacteros 《生物化学与生物物理学报:疾病的分子基础》1992,1180(1):53-57
Hb Rouen (α140 (HC2) Tyr→His) is a moderately high oxygen-affinity variant that was found in coincidence with polycythemia vera in a French patient. This hemoglobin provides an example of an alteration of the C-terminus of the α-chain, a region involved in the mechanisms of allosteric regulation. The increase in oxygen-affinity and decrease in cooperativity of this variant is much smaller than that resulting from the same substitution in the β-chain. This model provides additional evidence for the inequivalence between the α- and β-subunits. 相似文献
19.
H Wajcman J Kister M Marden A Lahary M Monconduit F Galacteros 《Biochimica et biophysica acta》1992,1180(1):53-57
Hb Rouen (alpha 140(HC2) Tyr-->His) is a moderately high oxygen-affinity variant that was found in coincidence with polycythemia vera in a French patient. This hemoglobin provides an example of an alteration of the C-terminus of the alpha-chain, a region involved in the mechanisms of allosteric regulation. The increase in oxygen-affinity and decrease in cooperativity of this variant is much smaller than that resulting from the same substitution in the beta-chain. This model provides additional evidence for the inequivalence between the alpha- and beta-subunits. 相似文献
20.
Streptococcus pyogenes-induced acute rheumatic fever (ARF) is one of the best examples of postinfectious autoimmunity due to molecular mimicry between host and pathogen. Sydenham chorea is the major neurological manifestation of ARF but its pathogenesis has remained elusive, with no candidate autoantigen or mechanism of pathogenesis described. Chorea monoclonal antibodies showed specificity for mammalian lysoganglioside and N-acetyl-beta-D-glucosamine (GlcNAc), the dominant epitope of the group A streptococcal (GAS) carbohydrate. Chorea antibodies targeted the surface of human neuronal cells, with specific induction of calcium/calmodulin-dependent protein (CaM) kinase II activity by monoclonal antibody 24.3.1 and sera from active chorea. Convalescent sera and sera from other streptococcal diseases in the absence of chorea did not activate the kinase. The new evidence implicates antibody-mediated neuronal cell signaling in the immunopathogenesis of Sydenham chorea and will lead to a better understanding of other antibody-mediated neurological disorders. 相似文献