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Clinical Picture (clinical + picture)
Selected AbstractsSEPTIC SHOCK IN AN ELDERLY PATIENT ON DIALYSIS: ENEMA-INDUCED RECTAL INJURY CONFUSING THE CLINICAL PICTUREJOURNAL OF AMERICAN GERIATRICS SOCIETY, Issue 12 2004Ravi K. Bobba MD No abstract is available for this article. [source] P01 Contact dermatitis from textile colours in three Spanish townsCONTACT DERMATITIS, Issue 3 2004Begońa Garcia-Bravo Objective:, Prevalence of textile dye contact dermatitis (TD-CD) are lacking in many countries. Our aim is to know the frequency of TD-CD in three different areas of Spain. Methods:, 100 patients were tested with Spanish standard series and the five most frequent TD in each city. D. Orange 1, D. Orange 3, D. Blue 35, D. Blue 106, D. Blue 124 were included in Murcia and Seville, and the three last and D. Red 1, D. Red 17 in Santiago. Results:, 23/300 (15 women and 8 men) were positives to one or more TD. D. Blue 124 was the most frequent allergen (18/300), followed by D. Blue 106 (17/300). D. Red 1, D. Red 17 and D. Orange 1 were positives in 2/200. D. Orange 3 and D. Blue 35 were positives in 1/200. Eczema was located on hands in 13 cases. Clinical picture was variable. Origin of sensitization was clothing and occupational. Relevance was obtained in 20/23 cases. Conclusions:, The study confirm an high frequency of disperse dye allergy in Spain with a very different prevalence in the three areas: Seville 14%, Murcia 5% and Santiago 4%, that are probably due to social and cultural factors. We recommend the inclusion of D. Blue 106, D. Blue 124, D. Blue 35, D. Red 1, D. Red 17, D. Orange 1 and D. Orange 3 in standard series in order to detect sensitivity to textile colours that is most frequent than previously suspected. [source] Clinical and Echocardiographic Aspects of Mid-Ventricular Hypertrophic CardiomyopathyECHOCARDIOGRAPHY, Issue 6 2005Francisco Martínez Baca-López M.D. Three cases of patients with hypertropic cardiomyopathy, apical aneurysm, and mid-ventricular obstruction are presented. Two patients were diagnosed first by two-dimensional and Doppler echocardiography, which showed mid-ventricular obliteration, characteristic hourglass image, and paradoxic jet flow. One patient with suboptimal echocardiogram was necessary to perform contrast echocardiogram. Clinical picture was characterized by angina and dyspnea. Thallium myocardial imaging revealed perfusion abnormalities in apical region, ischemia or necrosis. Cardiac catheterism showed mid-ventricular obliteration and significant intraventricular gradient and coronary arteries angiography without lesions. [source] Clinical picture of EPM1-Unverricht-Lundborg diseaseEPILEPSIA, Issue 4 2008Reetta Kälviäinen Summary Unverricht-Lundborg disease (ULD), progressive myoclonic epilepsy type 1 (EPM1, OMIM254800), is an autosomal recessively inherited neurodegenerative disorder characterized by age of onset from 6 to 16 years, stimulus-sensitive myoclonus, and tonic,clonic epileptic seizures. Some years after the onset ataxia, incoordination, intentional tremor, and dysarthria develop. Individuals with EPM1 are mentally alert but show emotional lability, depression, and mild decline in intellectual performance over time. The diagnosis of EPM1 can be confirmed by identifying disease-causing mutations in a cysteine protease inhibitor cystatin B (CSTB) gene. Symptomatic pharmacologic and rehabilitative management, including psychosocial support, are the mainstay of EPM1 patients' care. Valproic acid, the first drug of choice, diminishes myoclonus and the frequency of generalized seizures. Clonazepam and high-dose piracetam are used to treat myoclonus, whereas levetiracetam seems to be effective for both myoclonus and generalized seizures. There are a number of agents that aggravate clinical course of EPM1 such as phenytoin aggravating the associated neurologic symptoms or even accelerating cerebellar degeneration. Sodium channel blockers (carbamazepine, oxcarbazepine) and GABAergic drugs (tiagabine, vigabatrin) as well as gabapentin and pregabalin may aggravate myoclonus and myoclonic seizures. EPM1 patients need lifelong clinical follow-up, including evaluation of the drug-treatment and comprehensive rehabilitation. [source] Electrocardiographic Differentiation between Acute Pulmonary Embolism and Non-ST Elevation Acute Coronary Syndromes at the BedsideANNALS OF NONINVASIVE ELECTROCARDIOLOGY, Issue 2 2010Krzysztof Jankowski M.D., Ph.D. Background: Clinical picture of acute pulmonary embolism (APE), with wide range of electrocardiographic (ECG) abnormalities can mimic acute coronary syndromes. Objectives: Assessment of standard 12-lead ECG usefulness in differentiation at the bedside between APE and non-ST elevation acute coronary syndrome (NSTE-ACS). Methods: Retrospective analysis of 143 patients: 98 consecutive patients (mean age 63.4 ± 19.4 year, 45 M) with APE and 45 consecutive patients (mean age 72.8 ± 10.8 year, 44 M) with NSTE-ACS. Standard ECGs recorded on admission were compared in separated groups. Results: Right bundle branch block (RBBB) and S1S2S3 or S1Q3T3 pattern were found in similar frequency in both groups (10 [11%] APE patients vs 6 [14%] NSTE-ACS patients, 27 [28%] patients vs 7 [16%] patients, respectively, NS). Negative T waves in leads V1-3 together with negative T waves in inferior wall leads II, III, aVF (OR 1.3 [1.14,1.68]) significantly indicated APE with a positive predictive value of 85% and specificity of 87%. However, counterclockwise axis rotation (OR 4.57 [2.74,7.61]), ventricular premature beats (OR 2.60 [1.60,4.19]), ST depression in leads V1-3 (OR 2.25 [1.43,3.56]), and negative T waves in leads V5-6 (OR 2.08 [1.31,3.29]) significantly predicted NSTE-ACS. Conclusions: RBBB, S1S2S3, or S1Q3T3 pattern described as characteristic for APE were not helpful in the differentiation between APE and NSTE-ACS in studied group. Coexistence of negative T waves in precordial leads V1-3 and inferior wall leads may suggest APE diagnosis. Ann Noninvasive Electrocardiol 2010;15(2):145,150 [source] Clinical pictures and prevalence of factor VII deficiency in Northeastern of IranHAEMOPHILIA, Issue 1 2008H. MANSOURITORGHABEH No abstract is available for this article. [source] Drug-elicited systemic allergic (contact) dermatitis , update and possible pathomechanismsCONTACT DERMATITIS, Issue 4 2008Jacob Pontoppidan Thyssen An allergic dermatitis reaction may develop after systemic exposure to a hapten that reaches the skin through haematogenous transport. This condition can be observed with and without previous cutaneous sensitization to the hapten but has traditionally been described following topical exposure. A heterogeneous clinical picture, in combination with limited insight to its pathomechanisms, makes such systemic reactions an area in need of further study. This article summarizes knowledge about systemic dermatitis elicited by drugs, with a special emphasis on possible pathomechanisms. A list of putative pathomechanisms is offered for future research. Literature was examined using PubMed,MEDLINE, EMBASE, Biosis, and Science Citation Index. Based on the literature, it is likely that humoral type 3, delayed-type hypersensitivity, and drug-driven (i.e. p-i concept) reactions are involved. As commonly used terms may be misleading because skin contact is not a prerequisite, we suggest that the term ,systemic allergic dermatitis' should be used in the future. [source] Clarithromycin-induced hypomania in a child , a case reportACTA PSYCHIATRICA SCANDINAVICA, Issue 3 2010W. J. Baranowski Baranowski WJ. Clarithromycin-induced hypomania in a child , a case report. Objective:, We report here a child developing hypomania while treated with clarithromycin. Method:, Case report. Results:, A 3-year-old boy was treated for pneumonia with oral clarithromycin in monotherapy. The boy became somewhat hyperactive and irritable after the second dose. After the third dose he presented with psychomotor agitation, pressured speech, irritability, aggressive behaviour and insomnia. The antibiotic was identified as the only possible cause of the described clinical picture and was discontinued immediately. The hypomanic symptoms subsided gradually over 36 h. Conclusion:, Commonly-used medications can produce uncommon adverse reactions. Clinicians, especially general practitioners, pediatricians, as well as child and adolescent psychiatrists ought to be aware of such a possibility when evaluating a child with suddenly changed behaviour. [source] Depressive pseudodementia in a child with autismDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 7 2004Andrew J Pollard MBBS BSc PhD DIC ILTM MRCP(UK) FRCPCH Depression is rare in early childhood and unusual in autism in this age group. We describe a female child aged 6 years with autism who presented with regression of developmental skills previously gained. Her sleep and appetite were poor, her affect was sad, and she had morbid speech content. She responded to treatment with antidepressant medication. When this clinical picture occurs in adults it is called depressive pseudodementia; paediatric neurologists and neuropsychiatrists need to be aware of it in children. [source] Cervical spinal cord injury following cephalic presentation and delivery by Caesarean sectionDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 4 2001C Morgan MD MRCP MRCPCH We describe a term infant with an acute spinal cord injury following emergency Caesarean section. Foetal movements were normal on the day that the mother was admitted for postterm induction of labour. Caesarean section was performed because of foetal distress and failure to progress during labour. The initial clinical picture suggested acute birth asphyxia. The presence of a high cervical spine injury became more obvious as the clinical picture evolved over the next 7 days. A discontinuity of the cervical spinal cord at C4,5 was confirmed on MRI. Spontaneous respiration failed to develop and intensive care was withdrawn on day 15. No evidence of trauma, or a vascular, neurological, or congenital anomaly of the cervical spinal cord was found at post mortem. The absence of a similar case following cephalic presentation and Caesarean section made bereavement couselling of the parents especially difficult. [source] Bright light therapy for seasonal affective disorder in Israel (latitude 32.6°N): a single case placebo-controlled studyACTA PSYCHIATRICA SCANDINAVICA, Issue 3 2006L. Moscovici Introduction:, We describe a patient diagnosed as having seasonal affective disorder (SAD, winter depression), an unlikely condition in Israel (latitude 32.6°N), a country with relatively minor daylight photoperiodic changes between seasons. Method:, Case report. Results:, A 46-year-old woman with a clinical picture of depression (Diagnostic and Statistical Manual of Mental Disorders diagnostic criteria for ,major depression with seasonal pattern') reacted positively to 3 weeks of daily bright light therapy of 10 000 lux/wide spectrum. She was asked to wear dark sunglasses during placebo sessions to accommodate an A-B-C single-case-design. The intervention resulted in an improvement of 74,80% in the Hamilton anxiety and depression scales (clinician-rated) and the Beck depression inventory, similar to results obtained in high latitude regions. The depression and anxiety levels returned close to baseline levels following 1 week of the placebo intervention. Conclusion:, Seasonal affective disorder is apparently not limited to certain latitudes. The effect of light therapy was short-lived after discontinuation of the treatment, with rapid relapse occurring in the placebo phase. [source] Cenestho-hypohondriac disorders in schizophrenia started in adolescence periodACTA PSYCHIATRICA SCANDINAVICA, Issue 2002V. Prokudin For 10,15 years we studied the time-course of neurosis-like disorders in 46 patients with schizophrenia manifested in adolescence with cenetesthopathic disorders (23 patients presented the cenesthopathic,hypohondriac syndrome, in 17 cenesthopathia was attended by phobias, in six it was combined with manifestations of derealization and depersonalization). The study showed that in 87% of the patients the disease ran continuously (torpidly in 29, by the type of simple form in five and by type of paranoid form in six patients), in 13% of the patients the disease ran a paroxysm-progressive course. In 10,15 years the clinical picture in half of the patients continued to be characterized by the leading cenestho,hypochondriac symptomatology, in one-fourth of patients cenestho,hypochondriac disorders were transformed into hallucinational-paranoid, in another one-fourth of patients into either psychosis-like or apatho-abulic symptomatology. It is discussed the degree of progression of the disease in different variants of its course, the social and marital status of patients, the specificity of personality changes, and peculiarities of disease relapse. In patients with neurosis-like slack-course of disease it was the tendency of regredient dynamics and stable remissions. In patients with continuous variant (paranoid form) the degree of progredience was constantly increased and there was not a stable remissions. All patients with neurosis-like slack course were characterized by good social rehabilitation, but paranoic patients , by desadaptation. Only 17% of adolescents became be married after 10,15 years of our study. [source] Ring chromosome 20 syndrome: A link between epilepsy onset and neuropsychological impairment in three childrenEPILEPSIA, Issue 11 2009Aglaia Vignoli Summary Purpose:, Ring chromosome 20 [r(20)] syndrome is a well-defined chromosomal disorder characterized by epilepsy, mild-to-moderate mental retardation, and lack of recognizable dysmorphic features. Epilepsy is often the most important clinical manifestation of the syndrome, even if its appearance is not constantly precocious. Seizures are frequently drug resistant. Methods:, We describe three children with [r(20)] syndrome in whom the onset of epilepsy (age at onset range: 4 years and 6 months to 9 years and 4 months) determined a kind of epileptic status (age at onset range: 6 years and 10 months to 9 years and 8 months) with dramatic neuropsychological deterioration. This epileptic status lasted for several months because of refractoriness to most antiepileptic drugs (AEDs), but it was treated successfully with a combination of valproate and lamotrigine in two children. Results:, As soon as seizures stopped, the children showed prompt recovery with partial restoration of the neuropsychological impairment. Conclusion:, This clinical picture can be described as abrupt epileptic encephalopathy. [source] Neurofibromatosis type 1: should we screen for other genetic syndromes?EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 9 2009A case report of co-existence with multiple endocrine neoplasia 2A Abstract Background, NF 1 is a genetic disorder with an autosomal dominant pattern of inheritence. It is associated with neoplastic disorders mainly derived from the neural seath. However, the co-existence of NF1 with the full spectrum of MEN 2A has rarely been reported. The aim of the study was to investigate the presence of secondary neoplasias in a patient with diagnosed NF1, and in particular the presence of hyperparathyroidism and the possible co-existence with another pheochromocytoma-related syndrome. Methods, We report a case of a 70 years old female patient who had NF1. The patient was referred to our center and was diagnosed with an isolated pheochromocytoma of the right adrenal gland for which she underwent right adrenalectomy. We further investigated for the presence of another pheochromocytoma-related syndrome and in particular for the presence of hyperparathyroidism and medullary thyroid cancer. Molecular screening for germline mutations of the genes NF1, RET and VHL has also been performed. Results, The patient was further diagnosed with hyperparathyroidism and medullary thyroid cancer, having the full spectrum of the clinical picture of the MEN2A syndrome. The genetic testing revealed the germline mutation for NF1 but not for the RET proto-oncogene which is generally found in MEN2A cases. Conclusion, To our knowledge this is a rare case of co-existence of two pheochromocytoma-related genetic syndromes, and generates the question of whether all patients with these syndromes should undergo a thorough clinical and laboratory investigation for the possibility of another co-existing pheochromocytoma-related genetic syndrome. [source] Atorvastatin therapy improves exercise oxygen uptake kinetics in post-myocardial infarction patientsEUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 6 2007M. Guazzi Abstract Background Statins represent a modern mainstay of the drug treatment of coronary artery disease and acute coronary syndromes. Reduced aerobic work performance and slowed VO2 kinetics are established features of the clinical picture of post-myocardial infarction (MI) patients. We tested the hypothesis that statin therapy improves VO2 exercise performance in normocholesterolaemic post-MI patients. Materials and methods, According to a double-blinded, randomized, crossover and placebo-controlled study design, in 18 patients with uncomplicated recent (3 days) MI we investigated the effects of atorvastatin (20 mg day,1) on gas exchange kinetics by calculating VO2 effective time constant (tau) during a 50-watt constant workload exercise, brachial artery flow-mediated dilatation (FMD) as an index of endothelial function, left ventricular function (echocardiography) and C-reactive protein (CRP, as an index of inflammation). Atorvastatin or placebo was given for 3 months each. Results, Atorvastatin therapy significantly improved exercise VO2 tau and FMD, and reduced CRP levels. We did not observe changes in cardiac contractile function and relaxation properties during all study periods in either group. Conclusions, In post-MI patients exercise performance is a potential additional target of benefits related to statin therapy. Endothelial function improvement is very likely implicated in this newly described therapeutic property. [source] Metabolic age modelling: the lesson from centenariansEUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 10 2000G. Paolisso Evolutionary theories of ageing, and data emerging from cellular and molecular biology of ageing, suggested that animals and humans capable of reaching an age close to the extreme limit of the life span should be equipped with a very efficient network of anti-ageing mechanisms. Indeed several evidences have demonstrated that starting from young to very old subjects, ageing is associated with a progressive remodelling. Thus, a new paradigm, the remodelling theory of age, was proposed. This theory, focusing on the human immune system, suggested that immunosenescence is the net result of the continuous adaptation of the body to the deteriorative changes occurring over time. According to this hypothesis, body resources are continuously optimized, and immunosenescence must be considered a very dynamic process including both loss and gain. Whether the metabolic pathways and the endocrine functions are also part of the age remodelling is not investigated. The aim of this review is to focus on the age-related changes in metabolic pathways and endocrine functions and to demonstrate that healthy centenarians (HC) represent the best living example of successful age-remodelling in whom the age remodelling has occurred without problems. In order to design the clinical picture of such successful ageing, anthropometric, endocrine and metabolic characteristics of healthy centenarians (HC), compared with aged subject, have been outlined. [source] Type 3 hemochromatosis and , -thalassemia traitEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 5 2004Alessia Riva Abstract: Type 3 hemochromatosis is a rare autosomal recessive disorder due to mutations of the TFR2 gene. We describe clinical, biochemical and histopathologic findings of a patient with type 3 hemochromatosis at presentation and during a follow-up of more than 20 yr and we evaluate the effect of an associated , -thalassemia trait on phenotypic expression. At the age of 33 yr the patient showed a marked iron overload and severe iron-related complications. After removal of 26 g of iron by subcutaneous deferoxamine infusion a marked clinical improvement was observed. Liver biopsies, performed at the age of 34 and 49 yr, indicate that in type 3 hemochromatosis there is a progressive hepatocellular iron accumulation from Rappaport's zone 1,3 and that iron loading in sinusoidal and portal macrophages occurs only in the more advanced stage. As observed in HFE hemochromatosis, the , -thalassemia trait seems to aggravate the clinical picture of patients lacking TFR2, favoring higher rates of iron accumulation probably by activation of the erythroid iron regulator. [source] The tau S305S mutation causes frontotemporal dementia with parkinsonismEUROPEAN JOURNAL OF NEUROLOGY, Issue 2 2008L. Skoglund Members of families with mutations in the tau gene are known to be heterogeneous in their clinical presentation, ranging from frontotemporal dementia to a clinical picture more resembling corticobasal degeneration or progressive supranuclear palsy. In this report, we describe a new phenotype for the tau S305S mutation, previously described as progressive supranuclear palsy. Clinically, the three affected family members showed alterations in personality and behaviour as well as cognitive decline and late levodopa-resistant parkinsonian symptoms, consistent with the diagnosis of frontotemporal dementia with parkinsonism linked to chromosome 17. One autopsied case displayed degeneration of the frontal and temporal lobes together with extensive tau pathology in both neurones and glial cells. Sarkosyl-soluble and -insoluble tau extracted from frontal cortex revealed a ratio shift with decreased levels of tau with three microtubule-binding repeats and increased levels of tau with four microtubule-binding repeats (4R tau). These findings provide further evidence for the clinical and pathological variation both within and between families with mutations in the tau gene. In addition, they support previous studies which demonstrate that the S305S mutation influences the splicing of tau exon 10 and results in an overproduction of 4R tau. [source] Mycoplasma pneumoniae -associated myelitis: a comprehensive reviewEUROPEAN JOURNAL OF NEUROLOGY, Issue 2 2006S. Tsiodras Myelitis is one of the most severe central nervous system complications seen in association with Mycoplasma pneumoniae infections and both acute transverse myelitis (ATM) as well as acute disseminated encephalomyelitis (ADEM) have been observed. We reviewed all available literature on cases of Mycoplasma spp. associated ATM as well as ADEM with dominant spinal cord pathology and classified those cases according to the strength of evidence implicating M. pneumoniae as the cause. A wide range of data on diagnosis, epidemiology, immunopathogenesis, clinical picture, laboratory diagnosis, neuroimaging and treatment for this rare entity is presented. The use of highly sensitive and specific molecular diagnostic techniques may assist in clearly elucidating the role of M. pneumoniae in ATM/ADEM syndromes in the near future. Immunomodulating therapies may have a role in treating such cases. [source] What causes hidradenitis suppurativa?EXPERIMENTAL DERMATOLOGY, Issue 5 2008Lübeck Ralf Paus Fortunately, the recently founded Hidradenitis Suppurativa Foundation (HSF; http://www.hs-foundation.org), to which EXP DERMATOL serves as home journal, has broken with this unproductive tradition and has encouraged publication of the current CONTROVERSIES feature. This is exclusively devoted to discussing the pathobiology of this chronic neutrophilic folliculitis of unknown origin. Although traces of terminological bickering remain visible, it does the HS experts in our virtual debate room credit that they engage in a constructive and comprehensive dissection of potential pathogenesis pathways that may culminate in the clinical picture we know under the competing terms HS or acne inversa. These experts sketch more often complementary than mutually exclusive pathogenesis scenarios, and the outlines of a conceivable consensus on the many open pathobiology questions begin to emerge in these CONTROVERSIES. Hopefully, this heralds a welcome new tradition: to get to the molecular heart of HS pathogenesis, which can only be achieved by a renaissance of solid basic HS research, as the key to developing more effective HS therapy. [source] Liver stem cells and hepatocellular carcinoma,HEPATOLOGY, Issue 1 2009Lopa Mishra Although the existence of cancer stem cells (CSCs) was first proposed over 40 years ago, only in the past decade have these cells been identified in hematological malignancies, and more recently in solid tumors that include liver, breast, prostate, brain, and colon. Constant proliferation of stem cells is a vital component in liver tissues. In these renewing tissues, mutations will most likely result in expansion of the altered stem cells, perpetuating and increasing the chances of additional mutations and tumor progression. However, many details about hepatocellular cancer stem cells that are important for early detection remain poorly understood, including the precise cell(s) of origin, molecular genetics, and the mechanisms responsible for the highly aggressive clinical picture of hepatocellular carcinoma (HCC). Exploration of the difference between CSCs from normal stem cells is crucial not only for the understanding of tumor biology but also for the development of specific therapies that effectively target these cells in patients. These ideas have drawn attention to control of stem cell proliferation by the transforming growth factor beta (TGF-,), Notch, Wnt, and Hedgehog pathways. Recent evidence also suggests a key role for the TGF-, signaling pathway in both hepatocellular cancer suppression and endoderm formation, suggesting a dual role for this pathway in tumor suppression as well as progression of differentiation from a stem or progenitor stage. This review provides a rationale for detecting and analyzing tumor stem cells as one of the most effective ways to treat cancers such as HCC. (HEPATOLOGY 2009;49:318,329.) [source] Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations,HUMAN MUTATION, Issue 1 2010Alessandra Pangrazio Abstract The "Osteopetroses" are genetic diseases whose clinical picture is caused by a defect in bone resorption by osteoclasts. Three main forms can be distinguished on the basis of severity, age of onset and means of inheritance: the dominant benign, the intermediate and the recessive severe form. While several genes have been involved in the pathogenesis of the different types of osteopetroses, the CLCN7 gene has drawn the attention of many researchers, as mutations within this gene are associated with very different phenotypes. We report here the characterization of 25 unpublished patients which has resulted in the identification of 20 novel mutations, including 11 missense mutations, 6 causing premature termination, 1 small deletion and 2 putative splice site defects. Careful analysis of clinical and molecular data led us to several conclusions. First, intermediate osteopetrosis is not homogeneous, since it can comprise both severe dominant forms with an early onset and recessive ones without central nervous system involvement. Second, the appropriateness of haematopoietic stem cell transplantation in CLCN7-dependent ARO patients has to be carefully evaluated and exhaustive CNS examination is strongly suggested, as transplantation can almost completely cure the disease in situations where no primary neurological symptoms are present. Finally, the analysis of this largest cohort of CLCN7-dependent ARO patients together with some ADO II families allowed us to draw preliminary genotype-phenotype correlations suggesting that haploinsufficiency is not the mechanism causing ADO II. The availability of biochemical assays to characterize ClC-7 function will help to confirm this hypothesis. © 2009 Wiley-Liss, Inc. [source] RFT1 deficiency in three novel CDG patients,HUMAN MUTATION, Issue 10 2009Wendy Vleugels Abstract The medical significance of N-glycosylation is underlined by a group of inherited human disorders called Congenital Disorders of Glycosylation (CDG). One key step in the biosynthesis of the Glc3Man9GlcNAc2 -PP-dolichol precursor, essential for N-glycosylation, is the translocation of Man5GlcNAc2 -PP-dolichol across the endoplasmic reticulum membrane. This step is facilitated by the RFT1 protein. Recently, the first RFT1-deficient CDG (RFT1-CDG) patient was identified and presented a severe N-glycosylation disorder. In the present study, we describe three novel CDG patients with an RFT1 deficiency. The first patient was homozygous for the earlier reported RFT1 missense mutation (c.199C>T; p.R67C), whereas the two other patients were homozygous for the missense mutation c.454A>G (p.K152E) and c.892G>A (p.E298,K), respectively. The pathogenic character of the novel mutations was illustrated by the accumulation of Man5GlcNAc2 -PP-dolichol and by reduced recombinant DNase 1 secretion. Both the glycosylation pattern and recombinant DNase 1 secretion could be normalized by expression of normal RFT1 cDNA in the patients' fibroblasts. The clinical phenotype of these patients comprised typical CDG symptoms in addition to sensorineural deafness, rarely reported in CDG patients. The identification of additional RFT1-deficient patients allowed to delineate the main clinical picture of RFT1-CDG and confirmed the crucial role of RFT1 in Man5GlcNAc2 -PP-dolichol translocation. Hum Mutat 30:1,7, 2009. © 2009 Wiley-Liss, Inc. [source] Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM geneHUMAN MUTATION, Issue 1 2001Sabine Weller Abstract L1 disease is a group of overlapping clinical phenotypes including X-linked hydrocephalus, MASA syndrome, spastic paraparesis type 1, and X-linked agenesis of corpus callosum. The patients are characterized by hydrocephalus, agenesis or hypoplasia of corpus callosum and corticospinal tracts, mental retardation, spastic paraplegia, and adducted thumbs. The responsible gene, L1CAM, encodes the L1 protein which is a member of the immunoglobulin superfamily of neuronal cell adhesion molecules. The L1 protein is expressed in neurons and Schwann cells and seems to be essential for nervous system development and function. The patients' gene mutations are distributed over the functional protein domains. The exact mechanisms by which these mutations cause a loss of L1 protein function are unknown. There appears to be a relationship between the patients' clinical phenotype and the genotype. Missense mutations in extracellular domains or mutations in cytoplasmic regions cause milder phenotypes than those leading to truncation in extracellular domains or to non-detectable L1 protein. Diagnosis of patients and carriers, including prenatal testing, is based on the characteristic clinical picture and DNA mutation analyses. At present, there is no therapy for the prevention or cure of patients' neurological disabilities. Hum Mutat 18:1,12, 2001. © 2001 Wiley-Liss, Inc. [source] Clinical use of the adult attachment interview in parent,infant psychotherapyINFANT MENTAL HEALTH JOURNAL, Issue 4 2004Miriam Steele This article provides an illustration of how the use of the Adult Attachment Interview (AAI; George, Kaplan, & Main, 1985) can be extended beyond the research arena to its use as a clinical instrument in parent,infant psychotherapy. The article is based on the ongoing work of the Parent,Infant Project team at the Anna Freud Centre, London, where psychoanalytically trained therapists routinely administer the AAI early in the therapeutic process. In the first part of the article, we introduce the thinking behind the use of the AAI as a clinical tool and its particular relevance to the field of parent,infant psychotherapy. In the second part, we track the accruing clinical picture built up from a case example of the initial clinical sessions with a father who attended the Parent,Infant Project with his partner and two young children, and from the father's AAI. The discussion of the AAI material illustrates the distinct, yet related, interpretations of the parent,infant psychotherapist and the independent AAI coder as each made sense of the father's interview transcript. The resulting dialogue, between the psychodynamic-clinical and the attachment-research based approaches to the AAI, aims to highlight the added value the interview provides to the clinical understanding and process in parent,infant psychotherapy, which may ultimately help bridge the gap between the research and clinical domains. [source] Detection of elafin as a candidate biomarker for ulcerative colitis by whole-genome microarray screeningINFLAMMATORY BOWEL DISEASES, Issue 9 2006Carl-Fredrik Flach PhD Abstract The cause of ulcerative colitis (UC) is largely unknown. Microarray studies are an efficient way of investigating the various genes involved. Here, we have used whole-genome microarrays to clarify the clinical picture and to identify new biomarkers for improved diagnosis. Rectal biopsies were taken from five UC patients and five matched controls, and RNA transcripts were prepared. After labeling, each sample was individually applied to the microarray chips. All transcripts that were more than 10-fold up-regulated in all five patients were analyzed further in seven additional patients and seven controls using quantitative polymerase chain reaction. Of 47,000 transcripts examined, 4 were highly up-regulated in all patients: those encoding elafin, a secreted protease inhibitor, the ion and amino acid transporter B0,+ (SLC6A14), and the metabolic enzyme aldolase B, as well as a recently identified transcript named similar to numb-interacting homolog. The up-regulation of these transcripts appears to follow the progression of the disease because elevated expression was detected in the proximal part of the colon in patients with total colitis but not in patients with left-sided colitis. Immunohistologic examination showed very distinct differences in the expression of elafin. Extensive expression was detected in enterocytes and goblet cells of the affected mucosa, whereas there was no detectable expression in unaffected mucosa and in healthy controls. The results implicate four transcripts and proteins of special interest as possible targets for pharmacologic interference and as biomarkers in UC. Of these, elafin may be of special interest because it is a secreted protein that may be measured in body fluids. [source] Incidence of inflammatory bowel disease in finnish children, 1987,2003INFLAMMATORY BOWEL DISEASES, Issue 8 2006Pieta Turunen MS Abstract Background: The incidence of inflammatory bowel disease (IBD) has been increasing in Western countries. In younger people, Crohn's disease (CD) predominates over ulcerative colitis (UC), but the finding is not universal. The present study aimed to characterize not only the incidence but also the clinical picture of IBD from 1987 to 2003 in a large pediatric population in Finland. Materials and Methods: Data were collected from the patient discharge and medical records at the 2 largest university hospitals in Finland. The study population covered a total of 619,340 children, representing 56% of the children <18 years old in the country. All of the cases diagnosed with IBD from 1987 to 2003 were reviewed. Clinical, endoscopic, and histological data were collected. Incidence rates were estimated based on statistical assumptions. Results: A total of 604 cases with IBD were diagnosed during the 17-year period. All of the patients had undergone endoscopy. The diagnosis was CD in 203 (34%) cases, UC in 317 (52%) cases, and indeterminate colitis (IC) in 83 (14%) cases. The mean annual incidence rate increased from 3.9/100,000 (95% confidence interval [CI] 2.5,5.8) in 1987 to 7.0/100,000 (CI 5.0,9.4) in 2003 (P < 0.001). The majority of cases were 12 to <15 years old (n = 200, 33%). Of the patients, 5.1% were <3 years old and 14% were <6 years old. IC was most common in young children; 29% of all IBD patients <3 years of age had IC. Of the patients, 97% had been followed up until the age 18 in the hospitals after initial diagnosis (median follow-up 3.1 years). Of the patients, 45.2% were initially treated with steroids, whereas 17.8% received immunosuppressive agents at the end of the follow-up. Operations had been performed in 21% of the cases before age 18. The median time interval from the diagnosis to the first operation was 1.8 (range 7.8) years. Conclusions: The incidence of pediatric IBD almost doubled in Finland from 1987 to 2003. Surgical intervention was common early in the disease course. [source] Management of heart failure in elderly peopleINTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 2 2008M. Imazio Summary Aims:, To review currently available knowledge on presentation, clinical features and management of heart failure (HF) in elderly people. Methods:, To review currently available evidence, we performed a thorough search of several evidence-based sources of information, including Cochrane Database of Systematic Reviews, Clinical Evidence, Evidence-based guidelines from National Guidelines Clearinghouse and a comprehensive MEDLINE search with the MeSH terms: ,heart failure', ,elderly' and ,management'. Results:, A number of features of ageing may predispose elderly people to HF, and may impair the ability to respond to injuries. Another hallmark of elderly patients is the increasing prevalence of multiple coexisting chronic conditions and geriatric syndromes that may complicate the clinical presentation and evolution of HF. Although diagnosis may be challenging, because atypical symptoms and presentations are common, and comorbid conditions may mimic or complicate the clinical picture, diagnostic criteria do not change in elderly people. Drug treatment is not significantly different from that recommended in younger patients, and largely remains empiric, because clinical trials have generally excluded elderly people and patients with comorbid conditions. Disease management programmes may have the potential to reduce morbidity and mortality for patients with HF. Conclusions:, Heart failure is the commonest reason for hospitalisation and readmission among older adults. HF shows peculiar features in elderly people, and is usually complicated by comorbidities, presenting a significant financial burden worldwide, nevertheless elderly people have been generally excluded from clinical trials, and thus management largely remains empiric and based on evidence from younger age groups. [source] Some unusual type 2 reactions in leprosyINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 2 2010V. Ramesh MD Background, Type 2 reactions with lepromatous leprosy (LL) not occurring during multi-drug therapy (MDT) have been reported. Methods, Three patients have been described, each representing a prototype, the first presenting as bullous erythema nodosum leprosum (ENL), second with ENL erupting after treatment for co-existing pulmonary tuberculosis and resembling immune reconstitution inflammatory syndrome, and a third patient with recurrent Sweets-syndrome like presentation who had taken incomplete MDT in the past for leprosy. In all, the diagnosis was established by demonstration of acid-fast bacilli (AFB) on slit-skin smears (SSS) and histopathology. Results & Conclusion, The fact that reactions can occur in patients with clinically inapparent LL, who are more likely to present in general hospitals, has been reemphasized to enhance awareness among physicians. First presentation of leprosy as ENL is probably precipitated by common antibiotics taken for other illnesses. Since reactional episodes can occur before, during and after MDT for leprosy and the clinical picture is not specific to any of them, it is important to ascertain the status of anti-leprosy therapy during these episodes and treat them accordingly. [source] Cutaneous pseudolymphoma associated with molluscum contagiosum: a case reportINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 5 2008Javier Del Boz González MD We report an unusual case of molluscum contagiosum associated with pseudolymphoma in an otherwise healthy young woman. She presented with a 2-week history of a rapidly enlarging painful umbilicated nodule behind her right ear. With the clinical presentation suspicious for a tumoral lesion, we decided to remove it surgically. Histological examination showed a florid cellular infiltrate surrounding a typical lesion of molluscum contagiosum. The infiltrate was composed of small to large pleomorphic lymphocytes. However, clonal TCR rearrangement could not be demonstrated. As far as we know this is the first case where the clinical picture is shown. [source] | ||||||||||||||||||||||||||||||||||||||||||||||