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Affected Patients (affected + patient)
Selected AbstractsLatex allergy: diagnosis and managementDERMATOLOGIC THERAPY, Issue 4 2004James S. Taylor ABSTRACT:, Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis. Major allergens include dipped latex products such as gloves and balloons. In highest risk for NRL allergy are patients with spina bifida, but health care workers and others who wear latex gloves are also at risk. NRL allergic patients may also react to fruits/foods, especially banana, kiwi, and avocado. Diagnosis is made by a positive latex RAST and/or skin prick test or challenge test to NRL. Allergen avoidance and substitution and the use of latex-safe devices including synthetic gloves (vinyl, synthetic polyisoprene, neoprene, nitrile, block polymers, or polyurethane) are essential for the affected patient. Accommodation in the workplace may include the use of powder-free, low-allergen NRL gloves or synthetic gloves. These preventive measures have significantly reduced the prevalence of reported reactions to NRL. Hyposensitization is not yet feasible. [source] A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy,ANNALS OF NEUROLOGY, Issue 6 2009Sabrina W. Yum MD Objective To report the first cases of a homozygous recessive mutation in NEFL, the gene that encodes the light subunit of neurofilaments. Methods Clinical and electrophysiologic data were evaluated, and a sural nerve biopsy from one affected child was examined by immunohistochemistry and electron microscopy. The ability of the mutant protein to form filaments was characterized in an established cell culture system. Results Four of five siblings developed of a severe, progressive neuropathy beginning in early childhood. Serial nerve conduction studies showed progressively reduced amplitudes with age and pronounced slowing at all ages. Visual-evoked responses were slowed in three children, indicating that central nervous system axons were subclinically involved. All four affected children were homozygous for a nonsense mutation at glutamate 210 (E210X) in the NEFL gene; both parents were heterozygous carriers. A sural nerve biopsy from an affected patient showed markedly reduced numbers of myelinated axons; the remaining myelinated axons were small and lacked intermediate filaments. The E210X mutant protein did not form an intermediate filament network and did not interfere with the filament formation by wild-type human light subunit of neurofilaments in SW-13 vim, cells. Interpretation This is the first demonstration of a recessive NEFL mutation, which appears to cause a simple loss of function, resulting in a severe, early-onset axonal neuropathy with unique features. These results confirm that neurofilaments are the main determinant of axonal caliber and conduction velocity, and demonstrate for the first time that neurofilaments are required for the maintenance of myelinated peripheral nervous system axons. Ann Neurol 2009;66:759,770 [source] Inherited lipodystrophies and the metabolic syndromeCLINICAL ENDOCRINOLOGY, Issue 4 2007Houshang Monajemi Summary Lipodystrophies represent a heterogeneous group of diseases characterized by an abnormal subcutaneous fat distribution, the extent of which can vary from localized, to partial, to generalized lipoatrophy. Whereas partial and generalized lipodystrophies are each associated with metabolic abnormalities, the localized form is not. These metabolic changes include insulin resistance with type 2 diabetes, acanthosis nigricans, dyslipidaemia predominantly consisting of hypertriglyceridaemia (associated with the onset of pancreatitis) and depressed HDL cholesterol, liver steatosis and hypertension. Affected women are often hirsute and this can be associated with the presence of polycystic ovarian syndrome (PCOS). Most of these clinical features are present to some extent in patients with the common metabolic syndrome. As the prevalence of metabolic syndrome far outweighs that of lipodystrophy, the diagnosis of this rare disorder may often be overlooked with the affected patient diagnosed as merely being ,yet' another case of metabolic syndrome. In this article, we draw attention to the importance of recognizing patients with lipodystrophy who present with metabolic abnormalities, as both the diagnostic as well as the therapeutic approach of these patients differ profoundly from patients with the metabolic syndrome. [source] Have the causes of maxillofacial fractures changed over the last 16 years in Finland?DENTAL TRAUMATOLOGY, Issue 1 2005An epidemiological study of 725 fractures Abstract,,, A retrospective study was undertaken to assess causes of maxillofacial fractures in Helsinki in 1981 and 1997. Hospital records of 725 patients were analyzed according to several factors including age, sex, cause of fracture and time of the injury. The time intervals between the accident and hospital examination were also evaluated. Number of maxillofacial fractures was 318 in 1981 and 407 in 1997 (27.9% increase) and most patients were men. The male to female ratio was 2.8:1 in 1981, 3:1 in 1997. In 1981, most affected patients were in the age group of 31,40 years (33.2% of men, 28.9% of women). Sixteen years later the most affected age group was 41,50 years (23.3% of men, 30.4% of women). Assault was the cause of the injury in 42% of patients followed by traffic accidents (26%) and fall (17%). During the study period violence had become more severe in nature. Kicking as the cause of maxillofacial fracture increased by 7.3% and use of a weapon by 5.7% between the years studied. Bicycle accidents increased by 19.3% but motor vehicle accidents decreased by 31.6% between the years. Falls, and bicycle and pedestrian accidents were the causes that accounted for most of the increase in maxillofacial fracture. In 1997, maxillofacial fractures were slightly more common from June to August and from Friday to Sunday than at other times (45.2 and 50%, respectively). [source] Diabetes trends in EuropeDIABETES/METABOLISM: RESEARCH AND REVIEWS, Issue S3 2002Philippe Passa Abstract Estimates and projections suggest an epidemic expansion of diabetes incidence and prevalence in Europe. To evaluate trends in type 1 and type 2 diabetes in seven European countries (Finland, Denmark, the UK, Germany, France, Spain, and Italy), a variety of information is available, including population-based studies on small or large cohorts of subjects representative of the general population in a particular country, European co-operative studies, and sales figures for insulin and oral hypoglycemic agents that allow extrapolation of the number of pharmacologically treated diabetic patients. The incidence of type 1 diabetes in young people is increasing in most European countries, as is its prevalence in all age groups. Type 2 diabetes is the major contributor to the epidemic rise in diabetes. From 1995 to 1999, the prevalence of type 2 diabetes increased considerably, particularly in the UK, Germany, and France. Costs of ambulatory and in-hospital diabetic care (including antidiabetic, antihypertensive, and hypolipidemic agents) have increased even more rapidly than has the number of affected patients. Diabetes trends in Europe are alarming; health care professionals involved in diabetes care must be made aware of these detrimental trends, and health care delivery to patients with diabetes must be improved. Copyright © 2002 John Wiley & Sons, Ltd. [source] Heel ulcers don't heal in diabetes.DIABETIC MEDICINE, Issue 9 2005Or do they? Abstract Aim To obtain information on outcome of heel ulcers in diabetes. Methods Data were recorded prospectively on all patients with heel ulcers who were referred to a specialist multidisciplinary clinic between 1 January 2000 and 30 November 2003. Outcomes were assessed on 31 March 2004. Results There were 157 heel ulcers in the patients referred in the period. Three ulcers were excluded from analysis because of associated osteomyelitis. Of 154 remaining ulcers (121 limbs; 97 patients, 55 male; mean age 68.5 ± 12.8 sd years), 101 (65.6%) healed after a median (range) 200 (24,1225) days. Of 53 non-healed ulcers, 11 (7.1% of 154) were resolved by major amputation, 30 (19.5% of 154) were unhealed at time of patient's death, and 12 (7.8% of 154) remained unhealed. Ulcers healed in 59 of 97 affected patients (60.8%). Twenty-six patients (26.8% of 97) died during the period, of whom 20 died with ulcers unhealed. Worse outcomes were observed in larger ulcers (P = 0.001, Mann,Whitney U -test = 1883.5) and limbs with clinical evidence of peripheral arterial disease (P = 0.001, Mann,Whitney U -test = 1163.00). Backward step-wise logistic regression analysis showed 70.1% of healing could be predicted from these two baseline characteristics. Conclusions The common perception that ,heel ulcers don't heal' is not reflected in clinical practice. Outcome is generally favourable even in a population often affected by serious comorbidity and with limited life expectancy. These data can be used to help define management plans, as well as a basis for counselling of the individual patient. [source] Acute cardiorespiratory collapse from heparin: a consequence of heparin-induced thrombocytopeniaEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 5 2004Martha P. Mims Abstract: Background:, Heparin has rarely been reported to cause acute cardiorespiratory reactions or collapse. Some reports relate this to underlying heparin-induced thrombocytopenia. Objective:, To confirm and increase awareness of acute life-threatening cardiopulmonary events when patients with heparin-induced thrombocytopenia are re-exposed to heparin. Design:, Retrospective observational case series. Patients/setting:, Four cardiovascular surgery patients were identified in two adjacent large urban hospitals over a 2-yr-period who experienced eight episodes of cardiorespiratory collapse immediately following heparin administration. All had underlying heparin-induced thrombocytopenia. Results:, Intravenous boluses of unfractionated heparin were given to four patients with known or previously unrecognized heparin-induced thrombocytopenia. Two patients experienced severe respiratory distress within 15 min for which they required endotracheal intubation. Two other patients experienced cardiac arrest or a lethal arrhythmia within minutes of receiving intravenous heparin. Serologic tests for heparin-induced antibodies were positive in all patients. In three cases, the platelet count was normal or near normal but fell dramatically (71%) immediately following the heparin bolus. Three cases had prior diagnoses of heparin-induced thrombocytopenia, but health care workers administered heparin either unaware of the diagnosis or ignorant of its significance. No patients died, but all required some form of cardiopulmonary resuscitation and subsequent intensive care. Conclusions:, Heparin administration to patients with heparin-induced antibodies can result in life-threatening pulmonary or cardiac events. Appreciation of this phenomenon can unmask cases of heparin-induced thrombocytopenia and strengthens the mandate to avoid any heparin exposure in affected patients. Recognition is crucial to avoiding disastrous outcomes. [source] A clinical perspective of rheumatoid arthritisEUROPEAN JOURNAL OF IMMUNOLOGY, Issue 8 2009Hans Ulrich Scherer Abstract In recent years, factors potentially involved in pathogenesis of rheumatoid arthritis have mostly been identified by studying well-defined patient cohorts. Characterization of antibodies from sera of affected patients, family-based heritability studies, genome-wide association scans, the analysis of environmental factors and data from clinical trials have contributed largely to a thorough reassembly of our perception of rheumatoid arthritis. Modified animal models are now crucial to obtain experimental evidence for suggested pathogenetic pathways based on these observations and are currently being developed and explored. Some of the novel pathogenetic aspects, however, already influence decision making in the clinic. [source] Turcot syndrome confirmed with molecular analysisEUROPEAN JOURNAL OF NEUROLOGY, Issue 4 2007C. Lebrun Turcot syndrome is clinically characterized by the occurrence of primary brain tumor and colorectal tumor and has, in previous reports, been shown associated with germline mutations in the genes APC, MLH1, MHS6, and PMS2. To date, only few families have been documented by molecular analysis. We report two new families with Turcot syndrome to illustrate and review its characteristics and facilitate diagnosis. Molecular analysis revealed two germline mutations, one in the MLH1 gene and one in MSH2. The latter has never been describe in the literature. Personal and familial relevant anamnestic data from patients with glioma might aid in the diagnosis of genetic disorders. The subsequent molecular characterization may contribute to the appropriate care of affected patients and asymptomatic gene carriers. [source] A clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutationsEUROPEAN JOURNAL OF NEUROLOGY, Issue 2 2004M. Al Jumah Wilson disease (WD) is a hereditary disorder, with recessive transmission and genetic heterogeneity. Several mutations of ATP7B, the gene underlying WD, were reported in many ethnic groups. In this study, mutation screening in ATP7B of 56 Saudi Arabian WD patients was undertaken. The clinical data of all patients were recorded. The entire ATP7B coding sequence, including intron,exon boundaries were screened for mutation by the polymerase chain reaction (PCR)-based mutation detection technique and DNA sequencing. Thirty-nine patients were symptomatic at presentation and 17 subjects were pre-symptomatic siblings of affected patients. Fourteen patients had neurological, 11 patients had mixed (hepatic and neurological), and 14 patients had hepatic presentations. Family history suggestive of WD was present in 72% of cases and 68% had consanguineous parents. Genetic analysis showed disease-causing mutations in three exons (exons 8, 19 and 21) of the ATP7B gene in 28 patients (50%). Mutations in exons 21 (18 cases) and 19 (one case) were unique for Saudis. This large series of Saudi patients with WD has shown wide variability in the genomic substrate of WD. There is no correlation between genotype and clinical presentation. [source] Genomic organization and amplification of the human plakoglobin gene (JUP)EXPERIMENTAL DERMATOLOGY, Issue 5 2000N. V. Whittock Abstract: Plakoglobin is a globular protein common to the intracellular plaques of adhesive junctions, predominantly desmosomes and adherens junctions. Recently, a number of pathogenic mutations have been described in other components of desmosomes, specifically in plakophilin 1, desmoplakin and desmoglein 1. The phenotype of affected patients mainly involves thickening of palm and sole skin (keratoderma). Although no human mutations in plakoglobin have been described thus far, this protein represents an excellent candidate for other human genetic disorders, possibly involving skin and heart, sites of high plakoglobin expression. To facilitate future mutation detection analyses in such conditions, we have characterized the intron,exon organization of the human plakoglobin gene, which comprises 13 distinct exons spanning approximately 17 kb on 17q21. We have also developed a PCR-based mutation detection strategy using primers placed on flanking introns followed by direct sequencing of the PCR products. [source] Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A,HUMAN MUTATION, Issue 3 2005Nadja Bogdanova Abstract Hemophilia A is the most frequently occurring X-linked bleeding disorder, affecting one to two out of 10,000 males worldwide. Various types of mutations in the F8 gene are causative for this condition. It is well known that the most common mutation in severely affected patients is the intron 22 inversion, which accounts for about 45% of cases with F8 residual activity of less than 1%. Therefore, the aim of the present study was to determine the spectrum and distribution of mutations in the F8 gene in a large group of patients with severe hemophilia A who previously tested negative for the common intron 22 inversion. Here we report on a mutation analysis of 86 patients collected under the above-mentioned criterion. The pathogenic molecular defect was identified in all patients, and thus our detection rate was virtually 100%. Thirty-four of the identified mutations are described for the first time. The newly detected amino acid substitutions were scored for potential gross or local conformational changes and influence on molecular stability for every single F8 domain with available structures, using homology modeling. Hum Mutat Res 26(3), 249,254, 2005. © 2005 Wiley-Liss, Inc. [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] Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiencyHUMAN MUTATION, Issue 4 2001Luigi D. Notarangelo Abstract During the last 10 years, an increasing number of genes have been identified whose abnormalities account for primary immunodeficiencies, with defects in development and/or function of the immune system. Among them is the JAK3 -gene, encoding for a tyrosine kinase that is functionally coupled to cytokine receptors which share the common gamma chain. Defects of this gene cause an autosomal recessive form of severe combined immunodeficiency with almost absent T-cells and functionally defective B-cells (T,B+ SCID). Herewith, we present molecular information on the first 27 unique mutations identified in the JAK3 gene, including clinical data on all of the 23 affected patients reported so far. A variety of mutations scattered throughout all seven functional domains of the protein, and with different functional effects, have been identified. Availability of a molecular screening test, based on amplification of genomic DNA, facilitates the diagnostic approach, and has permitted recognition that JAK3 deficiency may also be associated with atypical clinical and immunological features. Development of a structural model of the JAK3 kinase domain has allowed characterization of the functional effects of the various mutations. Most importantly, molecular analysis at the JAK3 locus results in improved genetic counseling, allows early prenatal diagnosis, and prompts appropriate treatment (currently based on hematopoietic stem cell transplantation) in affected families. Hum Mutat 18:255,263, 2001. © 2001 Wiley-Liss, Inc. [source] The aetiology of sperm protamine abnormalities and their potential impact on the sperm epigenomeINTERNATIONAL JOURNAL OF ANDROLOGY, Issue 6 2008Douglas T. Carrell Summary During the elongating spermatid stage of spermatogenesis, there is a step-wise replacement of nuclear histones with protamines 1 and 2. In fertile men, the ratio of protamine 1/protamine 2 (P1/P2) is within the narrow range of 0.8,1.2. Ratios above or below that range are associated with infertility, exhibiting a wide range of defects including decreased sperm counts, morphology, fertilization ability, and embryo implantation capacity. In this review, we highlight studies evaluating potential causes of abnormal protamine expression, including the sequencing of genes relevant to protamine expression in both affected patients and controls. While the variants of the protamine genes themselves do not appear to be responsible for most observed defects, variants of the Contrin gene, a transcription factor and translation repressor, appear to be contributory to some cases of abnormal expression. Additionally, we explore the potential effects of abnormal protamine replacement on the epigenome of human sperm. Ongoing studies are evaluating the role of retained histones and DNA methylation in sperm, which may be affected in sperm with aberrant protamine replacement. This important area of epigenetic research has profound clinical implications. [source] Report: Dermoscopy as a diagnostic tool in demodicidosisINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 9 2010Rina Segal MD Background, The in vivo demonstration of Demodex infestation is traditionally based on the microscopic identification of Demodex mites, which is time consuming and requires specific equipment and a trained observer. Objective, The aim of this study was to describe for the first time the use of polarized-light dermoscopy for the diagnosis of demodicidosis in patients with variable clinical presentations. Methods, A total of 72 patients with variable facial eruptions were examined clinically, microscopically, and dermoscopically for the presence of Demodex mites. Results, Of the 72 patients, 55 were found to have demodicidosis. In 54 patients, the dermoscopy examination yielded a specific picture consisting of Demodex "tails" and Demodex follicular openings. In patients with an inflammatory variant of demodicidosis, reticular horizontal dilated blood vessels were also visualized. Microscopically, skin scrapings demonstrated Demodex in 52 patients. Overall, the dermoscopy findings showed excellent agreement with the microscopy findings (kappa value 0.86, 95% CI 0.72,0.99, P < 0.001). In the remaining 17 patients, there was no evidence of Demodex infestation either microscopically or dermoscopically. Limitations, The study was not blinded. As there are no standards for the diagnosis of demodicidosis, our results were based on criteria developed by our research group. Conclusions, This is the first description of the specific dermoscopic findings associated with variable clinical presentations of demodicidosis. Dermoscopy may serve as a valuable tool for the real-time validation of Demodex infestation and the evaluation and follow-up of affected patients. [source] Nursing Diagnosis in Medical-Surgical PatientsINTERNATIONAL JOURNAL OF NURSING TERMINOLOGIES AND CLASSIFICATION, Issue 2003Márcia Paschoalina Volpato PURPOSE. To identify nursing diagnoses identified in patients in a medical-surgical unit. METHODS. Data were collected through interviews and physical examination of 60 patients on a female ward in order to formulate NANDA diagnoses. The data collection tool was based on Gordon's 11 Functional Health Patterns. Four researchers with medical-surgical nursing expertise reached the nursing diagnosis through consensus. FINDINGS. A total of 338 diagnoses were identified from 49 different categories. Nineteen categories were identified in more than 10% of the sample: risk for infection (58%), pain (50%), constipation (42%), activity intolerance (35%), sleep pattern disturbance (28%), altered physical mobility (27%), impaired skin integrity (27%), fatigue (25%), sexual pattern dysfunction (23%), anxiety (23%), risk for ineffective manipulation of therapeutic regimen (20%), risk for trauma (20%), risk for impaired skin integrity (18%), ineffective coping (18%), altered nutrition: more than body requirements (12%), impaired communication (12%), urinary incontinence (10%), fluid volume excess (10%), and altered nutrition: less than body requirements (10%). The most frequent diagnoses related to Health Functional Patterns were identified in health control and perception, with 28% of the 338 formulated diagnoses, activity-exercise and nutritional-metabolic with 20% each. CONCLUSIONS. There was great diversity in the quality of the reported needs in the studied sample, which demands extensive knowledge and a wide range of abilities to identify needs as well as implement care in the affected patients. Studies such as this one will enhance delineation of the nursing knowledge base in order to justify allocation of human resources in specific areas. [source] Primary mucinous eccrine carcinoma of the skin , a rare clinical tumor with many differential diagnosesJOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, Issue 6 2010Ina M. Scholz Summary Primary mucinous eccrine carcinoma of the skin is an extremely rare tumor most frequently occurring in the face or capillitium. It is felt to be an eccrine carcinoma, characterized by slow progress and unpredictable locally infiltrative growth. Therefore micrographic surgery is important to avoid local recurrence. It can be difficult to differentiate this carcinoma histologically from cutaneous metastases of breast or gastrointestinal tumors. Because of this, a primary staging in affected patients is essential. [source] Outpatient care and medical treatment of children and adults with atopic eczemaJOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, Issue 4 2009Jochen Schmitt Summary Background: Despite the high prevalence, morbidity and economic burden of atopic eczema (AE), data on outpatient care of affected patients are missing. Methods: Utilizing a population-based administrative health care database from Saxony, Germany, this study describes outpatient care and medical treatment of AE by different medical disciplines in 2003 and 2004 by means of a representative sample of 11,555 patients with AE. Results: About 60% of all patients with AE seeking outpatient care were adults. Of the adults 66% and among children 51% consulted a dermatologist at least once within the study period. More than 50% of patients in all age groups received potent topical steroids. Of all patients 8% and 3% received topical pimecrolimus and topical tacrolimus, respectively. More than 10% of patients received systemic steroids, while less than 0.1% was given cyclosporine. The mean annual amount of topical anti-inflammatory treatment per patient was about 40 grams. Conclusions: Unexpectedly high proportions of patients with AE received potent topical and systemic steroids. The average total amount of prescribed medications was low. This study suggests insufficient care and medical treatment of patients with AE in routine practice. [source] Disease Status in Autosomal Dominant Osteopetrosis Type 2 Is Determined by Osteoclastic Properties,JOURNAL OF BONE AND MINERAL RESEARCH, Issue 7 2006Kang Chu Abstract Asymptomatic gene carriers and clinically affected ADO2 subjects have the same ClCN7 mutation. We examined osteoclastic bone resorption in vitro as well as osteoclast formation, several markers, acid secretion, and cytoskeletal structure. We found that ADO2 expression results from osteoclast specific properties. Introduction: Autosomal dominant osteopetrosis type II (ADO2) is a heritable osteosclerotic disorder that results from heterozygous mutations in the ClCN7 gene. However, of those individuals with a ClCN7 mutation, one third are asymptomatic gene carriers who have no clinical, biochemical, or radiological manifestations. Disease severity in the remaining two thirds is highly variable. Materials and Methods: Human peripheral blood mononuclear cells were isolated and differentiated into osteoclasts by stimulation with hRANKL and human macrophage-colony stimulating factor (hM-CSF). Study subjects were clinically affected subjects, unaffected gene carriers, and normal controls (n = 6 in each group). Pit formation, TRACP staining, RANKL dose response, osteoclast markers, acid secretion, F-actin ring, and integrin ,v,3 expression and co-localization were studied. Results: Osteoclasts from clinically affected subjects had severely attenuated bone resorption compared with those from normal controls. However, osteoclasts from unaffected gene carriers displayed similar bone resorption to those from normal controls. In addition, the resorption lacunae from both unaffected gene carriers and normal controls appeared much earlier and spread much more rapidly than those from clinically affected subjects. As time progressed, the distinction between clinically affected subjects and the other two groups increased. No significant difference was found in acidic secretion or osteoclast formation between the three groups. Osteoclast cytoskeletal organization showed no difference between the three groups but there was low cellular motility in clinically affected subjects. Conclusions: Osteoclasts from the unaffected gene carriers, in contrast to those from the clinically affected subjects, functioned normally in cell culture. This finding supports the hypothesis that intrinsic osteoclast factors determine disease expression in ADO2. Further understanding of this mechanism is likely to lead to the development of new approaches to the treatment of clinically affected patients. [source] Arrhythmogenic Right Ventricular Dyspiasia/Cardiomyopathy:JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 7 2000Need for an International Registry. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a heart muscle disease characterized by peculiar right ventricular involvement and electrical instability that precipitates ventricular arrhythmias and sudden death. The purpose of the present consensus report of the Study Group of the European Society of Cardiology and the Scientific Council on Cardiomyopathies of the World Heart Federation is to review the considerable progress in our understanding of the etiopathogenesis, morbid anatomy, and clinical presentation of ARVD/C since its first description in 1977. This article will focus on the important hut still unanswered issues, mostly regarding risk stratification, clinical outcome, and management of affected patients. Because ARVD/C is relatively uncommon and any one center may have experience with only a few patients, an international registry is being established to accumulate information and enhance the numbers of patients that can be analyzed to answer the pending questions. The registry also will facilitate pathologic, molecular, and genetics research on the etiology and pathogenesis of the disease. Furthermore, availability of an international database will enhance awareness of this largely unrecognized condition among the medical community. Physicians are encouraged to enroll patients in the International Registry of ARVD/C. [source] Review paper: more than ringing in the ears: a review of tinnitus and its psychosocial impactJOURNAL OF CLINICAL NURSING, Issue 21 2009Susan Holmes Aim and objectives., To provide an overview of tinnitus, current management and its psychosocial impact offering strategies for managing acute and chronic tinnitus in practice. Background., Tinnitus, characterised by the perception of sound in the absence of external stimuli, is experienced by about 10% of the population at some time in their lives. It may be temporary/longstanding; approximately 5% adults experience severe, persistent tinnitus affecting their lifestyle. Although many adjust successfully, others are disabled by the condition. Though often unrecognised, tinnitus affects many patients regardless of their presenting illness. Design., A literature review including descriptive, theoretical and empirical material. Databases were searched using the keyword ,tinnitus' providing diverse information which was used to address the research questions. Results., Tinnitus represents more than ,simple' ringing in the ears and may be accompanied by many distressing changes. It may be acute or chronic. It is difficult to treat, care may be directed towards management rather than cure. Many patients are, however, told that ,nothing can be done'. Relevance to clinical practice., Despite the high prevalence of tinnitus, there is a paucity of relevant nursing literature suggesting that there is an information deficit amongst nurses. The information provided shows that understanding the full impact of the condition and identification of patients' needs are essential to effective care. Strategies to help affected patients are given. Conclusions., Tinnitus, a widespread, often intractable condition, affects millions of people; there is considerable debate about its causes. Tinnitus is distressing and may be severe enough to affect lifestyle and quality of life. Affected patients need considerable support and advice on healthcare options, encouragement to try different treatments and recognition that help and hope are available. Though patients may have to learn to live with tinnitus, the most important thing is that they recognise that help is available. [source] A journey of hope: lessons learned from studies on rare diseases and orphan drugsJOURNAL OF INTERNAL MEDICINE, Issue 1 2006M. WÄSTFELT Abstract. Rare diseases are frequently life-threatening or chronically debilitating and the impact on the quality of life of affected patients and their family members is thus significant. However, drug development for these conditions has been limited by a lack of understanding of the underlying mechanisms of disease and the relative unavailability of subjects for clinical trials, as well as the prohibitive cost of investing in a novel pharmaceutical agent with poor market potential. Nevertheless, the introduction of Orphan Drug legislations has provided important incentives for the development of orphan drugs (i.e. drugs that have been abandoned or ,orphaned' by major drug companies). Moreover, recent studies on rare diseases, including inherited immunodeficiencies and metabolic disorders, have served not only to alleviate the plight of patients with rare diseases, but also yielded valuable information on biological processes of relevance for other, more common conditions. These lessons, along with the crucial importance of cooperation between academic institutions, pharmaceutical companies, patient advocacy groups and society in the elucidation of rare diseases, are highlighted in the present review. [source] A simple and practical method in treatment of ingrown nails: splinting by flexible tubeJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 10 2006S Nazari Abstract Background, The ingrown nail (or onychocryptosis) is a common problem that occurs mostly in the big toe and causes high amounts of morbidity in affected patients. Many therapeutic methods have been described, most of them leading to severe damage to the nail or to frequent relapses. The nail splinting technique is a successful, simple and non-invasive therapeutic method for treating ingrown nails. Objective, To determine efficacy of the plastic tube insertion technique in patients with ingrown toenail and its use as a standard treatment. Materials and Methods, We encountered 32 cases (age range 9,67 years) of ingrown toenails in this clinical trial. All of the patients were treated using the plastic nail tube insertion technique for 7 to 15 days. Patients were examined daily for the first 3 days of treatment and were evaluated 3 and 6 months after treatment. All patients were followed up by a single observer. Results, Recurrence was seen in only two patients after 6 months of treatment (6.25%). Conclusion, The low recurrence rate using the nail splinting technique in the treatment of ingrown toenail, as well as its simple application, shows that this treatment constitutes an effective, non-invasive method. It appears that this technique can substitute other more invasive surgical methods, particularly in the early stages of this disease. [source] Increased risk of squamous cell carcinoma in junctional epidermolysis bullosaJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 5 2004R Mallipeddi ABSTRACT Non-Herlitz junctional epidermolysis bullosa (JEB) is an autosomal recessive genodermatosis characterized by skin fragility and blistering. It is usually caused by mutations in the genes encoding the basement membrane proteins laminin 5 or type XVII collagen. Clinically, impaired wound healing and chronic erosions cause major morbidity in affected patients. Previously it was thought that these individuals, unlike patients with dystrophic EB, did not have an increased risk of developing skin cancer. However, we describe three patients with non-Herlitz JEB (aged 42, 56 and 75 years) who developed cutaneous squamous cell carcinomas (SCCs). The tumours were well-differentiated in two cases, but one patient had multiple primary SCCs that were either well- or moderately differentiated. Most cases of SCC in non-Herlitz JEB described have occurred in those with laminin 5 defects and on the lower limbs. These clinicopathological observations have important implications for the management of patients with this mechanobullous disorder as well as providing further insight into the biology of skin cancer associated with chronic inflammation and scarring. [source] L-2-Hydroxyglutaric Aciduria in Staffordshire Bull TerriersJOURNAL OF VETERINARY INTERNAL MEDICINE, Issue 4 2003Carley J. Abramson L-2-Hydroxyglutaric aciduria is an inborn error of metabolism, which has been recognized in humans since 1980. The metabolic defect responsible for the disease is unknown, but the disorder can be diagnosed in humans by elevations of the organic acid, L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF), plasma, and urine of affected patients. The disorder produces a variety of clinical neurological defects in humans including psychomotor retardation, seizures, and ataxia. There have previously been no recognized animal models of the disease. However, 6 Staffordshire Bull Terriers were recently identified with the disorder. The animals presented with a variety of clinical signs, most notably seizures, ataxia, dementia, and tremors. They were all screened for organic acid abnormalities in urine, and CSF and plasma (when available). Levels of L-2-hydroxyglutaric acid were elevated in all body fluids evaluated. The clinical, clinicopathologic, and magnetic resonance imaging (MRI) characteristics associated with L-2-hydroxyglutaric acid in Stafforshire Bull Terriers is reported herein and represents the first veterinary model of this inborn error of metabolism. [source] Allergic rhinitis and its impact on otorhinolaryngologyALLERGY, Issue 6 2006P. W. Hellings Allergic rhinitis (AR) is a disease with growing impact on everyday medical practice, as its prevalence has steadily increased during the last decades. Immunoglobulin-E (IgE)-mediated airway inflammation may manifest itself as AR, asthma or both. Allergic inflammation in upper and lower airways is now considered as one airway disease, with manifestation of symptoms in upper, lower or global airway. This insight into allergic inflammation of the whole respiratory tract has consequences for the diagnostic and therapeutic approach of affected patients, as highlighted in the ARIA document. In contrast to asthma, the link between AR and associated conditions in the upper airways like rhinosinusitis, nasal polyps, recurrent viral infections, adenoid hypertrophy, tubal dysfunction, otitis media with effusion and laryngitis remains less explored. It is however of utmost importance to consider the aetiological role of IgE-mediated inflammation of the nasal mucosa in several diseases of the upper respiratory tract, as they represent a large body of patient population seen by the general practitioner as well as the paediatrician, allergologist and otorhinolaryngologist. We here aim at reviewing the current literature on the relationship between AR and conditions in upper airways frequently encountered in everyday clinical practice, and highlight the need for further studies exploring the role of allergic inflammation in the development of these diseases. [source] Long-term follow-up of impulse control disorders in Parkinson's diseaseMOVEMENT DISORDERS, Issue 1 2008Eugenia Mamikonyan MS Abstract Recent studies have linked dopamine agonist (DA) usage with the development of impulse control disorders (ICDs) in Parkinson's disease (PD). Little is known about optimal management strategies or the long-term outcomes of affected patients. To report on the clinical interventions and long-term outcomes of PD patients who developed an ICD after DA initiation. Subjects contacted by telephone for a follow-up interview after a mean time period of 29.2 months. They were administered a modified Minnesota Impulse Disorder Interview for compulsive buying, gambling, and sexuality, and also self-rated changes in their ICD symptomatology. Baseline and follow-up dopamine replacement therapy use was recorded and verified by chart review. Of 18 subjects, 15 (83.3%) participated in the follow-up interview. At follow-up, patients were receiving a significantly lower DA levodopa equivalent daily dosage (LEDD) (Z = ,3.1, P = 0.002) and a higher daily levodopa dosage (Z = ,1.9, P = 0.05), but a similar total LEDD dosage (Z = ,0.47, P = 0.64) with no changes in Unified Parkinson's Disease Rating Scale motor score (Z = ,1.3, P = 0.19). As part of ICD management, 12 (80.0%) patients discontinued or significantly decreased DA treatment, all of whom experienced full or partial remission of ICD symptoms by self-report, and 10 (83.3%) of whom no longer met diagnostic criteria for an ICD. For PD patients who develop an ICD in the context of DA treatment, discontinuing or significantly decreasing DA exposure, even when offset by an increase in levodopa treatment, is associated with remission of or significant reduction in ICD behaviors without worsening in motor symptoms. © 2007 Movement Disorder Society [source] Compulsive eating and weight gain related to dopamine agonist useMOVEMENT DISORDERS, Issue 4 2006Melissa J. Nirenberg MD Abstract Dopamine agonists have been implicated in causing compulsive behaviors in patients with Parkinson's disease (PD). These have included gambling, hypersexuality, hobbyism, and other repetitive, purposeless behaviors ("punding"). In this report, we describe 7 patients in whom compulsive eating developed in the context of pramipexole use. All of the affected patients had significant, undesired weight gain; 4 had other comorbid compulsive behaviors. In the 5 patients who lowered the dose of pramipexole or discontinued dopamine agonist treatment, the behavior remitted and no further weight gain occurred. Physicians should be aware that compulsive eating resulting in significant weight gain may occur in PD as a side-effect of dopamine agonist medications such as pramipexole. Given the known risks of the associated weight gain and obesity, further investigation is warranted. © 2005 Movement Disorder Society [source] Falls and freezing of gait in Parkinson's disease: A review of two interconnected, episodic phenomenaMOVEMENT DISORDERS, Issue 8 2004Bastiaan R. Bloem MD Abstract Falls and freezing of gait are two "episodic" phenomena that are common in Parkinson's disease. Both symptoms are often incapacitating for affected patients, as the associated physical and psychosocial consequences have a great impact on the patients' quality of life, and survival is diminished. Furthermore, the resultant loss of independence and the treatment costs of injuries add substantially to the health care expenditures associated with Parkinson's disease. In this clinically oriented review, we summarise recent insights into falls and freezing of gait and highlight their similarities, differences, and links. Topics covered include the clinical presentation, recent ideas about the underlying pathophysiology, and the possibilities for treatment. A review of the literature and the current state-of-the-art suggests that clinicians should not feel deterred by the complex nature of falls and freezing of gait; a careful clinical approach may lead to an individually tailored treatment, which can offer at least partial relief for many affected patients. © 2004 Movement Disorder Society [source] | ||||||||||||||||||||||||||||||||||