			Home About us Contact

Type I Patients (type + i_patient)

Distribution by Scientific Domains

Medical Sciences	60%

Selected Abstracts

Sphincter of Oddi dysfunction: role of sphincterotomy

DIGESTIVE ENDOSCOPY, Issue 4 2001
Choichi Sugawa
Sphincter of Oddi dysfunction (SOD) is one of the causes of post-cholecystectomy syndrome and biliary pain and is a challenge from both the diagnostic and therapeutic points of view. Sphincter of Oddi dysfunction is typically diagnosed months to years after cholecystectomy. Continued biliary type pain after cholecystectomy may occur in as many as 10,20% of patients. Ten percent or more of these patients may eventually be shown to have SOD. The syndrome is often associated with a variety of other gastrointestinal disorders thought to be caused by dysmotility. According to the Milwaukee classification, patients with biliary pain can be divided into three types. Type I patients show all the objective signs suggestive of a disturbed bile outflow (i.e. elevated liver function tests, dilated common bile duct and delayed contrast drainage during endoscopic retrograde cholangiopancreatography). Type II patients have biliary type pain along with one or two of the criteria from type I. Type III patients have biliary pain only, with no other abnormalities. The present paper will focus primarily on SOD syn-drome, papillary stenosis and the diagnostic and therapeutic approaches, in particular endoscopic sphincterotomy. [source]

Evidence for genetic heterogeneity in D -2-hydroxyglutaric aciduria,

HUMAN MUTATION, Issue 3 2010
Martijn Kranendijk
Abstract We performed molecular, enzyme, and metabolic studies in 50 patients with D -2-hydroxyglutaric aciduria (D -2-HGA) who accumulated D -2-hydroxyglutarate (D -2-HG) in physiological fluids. Presumed pathogenic mutations were detected in 24 of 50 patients in the D -2-hydroxyglutarate dehydrogenase (D2HGDH) gene, which encodes D -2-hydroxyglutarate dehydrogenase (D -2-HGDH). Enzyme assay of D -2-HGDH confirmed that all patients with mutations had impaired enzyme activity, whereas patients with D -2-HGA whose enzyme activity was normal did not have mutations. Significantly lower D -2-HG concentrations in body fluids were observed in mutation-positive D -2-HGA patients than in mutation-negative patients. These results imply that multiple genetic loci may be associated with hyperexcretion of D -2-HG. Accordingly, we suggest a new classification: D -2-HGA Type I associates with D -2-HGDH deficiency, whereas idiopathic D -2-HGA manifests with normal D -2-HGDH activity and higher D -2-HG levels in body fluids compared with Type I patients. It remains possible that several classifications for idiopathic D -2-HGA patients with diverse genetic loci will be revealed in future studies. Hum Mutat 31:1,5, 2010. © 2009 Wiley-Liss, Inc. [source]

Molecular pathology of NEU1 gene in sialidosis,

HUMAN MUTATION, Issue 5 2003
Volkan Seyrantepe
Abstract Lysosomal sialidase (EC 3.2.1.18) has a dual physiological function; it participates in intralysosomal catabolism of sialylated glycoconjugates and is involved in cellular immune response. Mutations in the sialidase gene NEU1, located on chromosome 6p21.3, result in autosomal recessive disorder, sialidosis, which is characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. Sialidosis type I is a milder, late-onset, normosomatic form of the disorder. Type I patients develop visual defects, myoclonus syndrome, cherry-red macular spots, ataxia, hyperreflexia, and seizures. The severe early-onset form, sialidosis type II, is also associated with dysostosis multiplex, Hurler-like phenotype, mental retardation, and hepatosplenomegaly. We summarize information on the 34 unique mutations determined so far in the sialidase gene, including four novel missense and one novel nonsense mutations found in two Czech and two French sialidosis patients. The analysis of sialidase mutations in sialidosis revealed considerable molecular heterogeneity, reflecting the diversity of clinical phenotypes that make molecular diagnosis difficult. The majority of sialidosis patients have had missense mutations, many of which have been expressed; their effects on activity, stability, intracellular localization, and supramolecular organization of sialidase were studied. A structural model of sialidase allowed us to localize mutations in the sialidase molecule and to predict their impact on the tertiary structure and biochemical properties of the enzyme. Hum Mutat 22:343,352, 2003. © 2003 Wiley-Liss, Inc. [source]

Laser Hair Removal: Long-Term Results with a 755 nm Alexandrite Laser

DERMATOLOGIC SURGERY, Issue 11 2001
Sorin Eremia MD
Background. Hypertrichosis is a common problem for which laser hair removal is becoming the treatment of choice. Optimal wavelength, pulse duration, spot size, fluence, and skin cooling parameters for various skin types have not yet been firmly established. Objective. To evaluate the long-term efficacy and safety of a 3-msec 755 nm alexandrite laser equipped with a cryogen cooling device for patients with Fitzpatrick skin types I,V. Methods. Eighty-nine untanned patients with skin types I,V underwent a total of 492 treatments of laser hair removal over a 15-month period. Each patient in the study underwent a minimum of three treatment sessions spaced 4,6 weeks apart (mean treatments 5.6). Retrospective chart review and patient interviews were used to establish hair reduction results. Treatment sites included the axillae, bikini, extremities, face, and trunk. A 3-msec pulse width, 755 nm alexandrite laser equipped with a cryogen spray cooling device was used in this study. Spot sizes of 10,15 mm were used. A spot size of 10 mm was used for fluences greater than 40 J/cm2, a spot size of 12 mm was used for fluences of 35,40 J/cm2, and spot sizes of 12 and 15 mm were used for fluences less than 30 J/cm2. Fluences ranging from 20 to 50 J/cm2 (mean fluence 36 J/cm2) were used. Results. The patients had a mean 74% hair reduction. Skin type I patients had an average of 78.5% hair reduction using a mean fluence of 40 J/cm2 (35,50 J/cm2) and a 10,12 mm spot size (12 mm in more than 95% of treatments). Skin type II patients had a mean 74.3% hair reduction using a mean fluence of 38 J/cm2 (30,40 J/cm2) and a 12,15 mm spot size. Skin type III patients had a mean 73.4% hair reduction using a mean fluence of 37 J/cm2 (25,40 J/cm2) and a 12,15 mm spot size. Skin type IV patients had a mean 71.0% hair reduction using a mean fluence of 31 J/cm2 (25,35 J/cm2) and a 12,15 mm spot size. A patient with skin type V had a 60% hair reduction using a mean fluence of 23 J/cm2 (20,25 J/cm2) and a 12,15 mm spot size. The efficiency of hair removal directly correlates significantly with the fluence used. Rare side effects included transient postinflammatory hyperpigmentation (n = 9; 10%), burn with blisters (n = 1; 1%), and postinflammatory hypopigmentation (n = 2; 2%). All complications resolved without permanent scarring. Conclusion. The 3-msec cryogen cooling-equipped alexandrite laser can safely and effectively achieve long-term hair removal in patients with skin types I,V. The best results are achieved in untanned patients with skin types I,IV. [source]

Abnormal dose-response melatonin suppression by light in bipolar type I patients compared with healthy adult subjects

ACTA NEUROPSYCHIATRICA, Issue 5 2009
Karen T. Hallam
Objective: Among potential endophenotypes proposed for bipolar affective disorder focusing on circadian abnormalities associated with the illness has particularly high face validity. Melatonin sensitivity to light is one circadian endophenotype proposed as useful in bipolar disorder. The aim of this study was to investigate melatonin sensitivity to light over a range of light intensities in order to compare and contrast responses in bipolar I patients with those of healthy adult volunteers. Methods: The study included seven patients (4 females, 3 males) with bipolar I disorder and 34 control participants (22 females, 12 males) with no personal or family history of affective illness. Melatonin sensitivity to light was determined in all patients and participants across a range of light intensities (0, 200, 500 and 1000 lux). Results: The results indicated that patients showed melatonin super-sensitivity to light in comparison with controls, a response that was consistent across the entire light intensity range investigated. Conclusion: The study provides further evidence for a super sensitive response in bipolar I patients and suggests that its potential usefulness as an endophenotypic marker of the illness is deserving of further research. [source]