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[PMID]: 25347171
[Au] Autor:Hummig W; Kopruszinski CM; Chichorro JG
[Ti] Title:Pregabalin reduces acute inflammatory and persistent pain associated with nerve injury and cancer in rat models of orofacial pain.
[So] Source:J Oral Facial Pain Headache;28(4):350-9, 2014.
[Is] ISSN:2333-0384
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:AIMS: To assess the analgesic effect of pregabalin in orofacial models of acute inflammatory pain and of persistent pain associated with nerve injury and cancer, and so determine its effectiveness in controlling orofacial pains having different underlying mechanisms. METHODS: Orofacial capsaicin and formalin tests were employed in male Wistar rats to assess the influence of pregabalin (or vehicle) pretreatment in acute pain models, and the results from these experiments were analyzed by one-way analysis of variance (ANOVA) followed by Newman Keuls post-hoc test. Pregabalin (or vehicle) treatment was also tested on the facial heat hyperalgesia that was evaluated in rats receiving injection of the inflammatory irritant carrageenan into the upper lip, as well as after constriction of the infraorbital nerve (a model of trigeminal neuropathic pain), or after inoculation of tumor cells into the facial vibrissal pad; two-way repeated measures ANOVA followed by Newman-Keuls post-hoc test was used to analyze data from these experiments. RESULTS: Facial grooming induced by capsaicin was abolished by pretreatment with pregabalin at 10 and 30 mg/kg. However, pregabalin failed to modify the first phase of the formalin response, but reduced the second phase at both doses (10 and 30 mg/kg). In addition, treatment of rats with pregabalin reduced the heat hyperalgesia induced by carrageenan, as well as by nerve injury and facial cancer. CONCLUSION: Pregabalin produced a marked antinociceptive effect in rat models of facial inflammatory pain as well as in facial neuropathic and cancer pain models, suggesting that it may represent an important agent for the clinical control of orofacial pain.
[Mh] MeSH terms primary: Analgesics/therapeutic use
Anti-Inflammatory Agents/therapeutic use
Facial Pain/prevention & control
gamma-Aminobutyric Acid/analogs & derivatives
[Mh] MeSH terms secundary: Acute Pain/prevention & control
Animals
Capsaicin/adverse effects
Carrageenan/adverse effects
Chronic Pain/prevention & control
Disease Models, Animal
Facial Neoplasms/complications
Hot Temperature/adverse effects
Hyperalgesia/etiology
Hyperalgesia/prevention & control
Irritants/adverse effects
Lip Diseases/etiology
Male
Neoplasm Transplantation
Orbit/innervation
Pain Measurement
Random Allocation
Rats, Wistar
Sensory System Agents/adverse effects
Trigeminal Neuralgia/chemically induced
Trigeminal Neuralgia/prevention & control
gamma-Aminobutyric Acid/therapeutic use
[Pt] Publication type:COMPARATIVE STUDY; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Analgesics); 0 (Anti-Inflammatory Agents); 0 (Irritants); 0 (Sensory System Agents); 55JG375S6M (pregabalin); 56-12-2 (gamma-Aminobutyric Acid); 9000-07-1 (Carrageenan); S07O44R1ZM (Capsaicin)
[Em] Entry month:1412
[Cu] Class update date: 150717
[Lr] Last revision date:150717
[Js] Journal subset:D
[Da] Date of entry for processing:141028
[St] Status:MEDLINE
[do] DOI:10.11607/ofph.1317

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[PMID]: 26173602
[Au] Autor:Minato H; Kinoshita E; Nakada S; Nojima T; Tanaka M; Usuda K; Sagawa M; Iwao H; Tanaka M; Doai M; Takahashi T; Shibata N
[Ad] Address:Department of Pathology and Laboratory Medicine, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa, 9200293, Japan. hminato@kanazawa-med.ac.jp....
[Ti] Title:Thymic lymphoid hyperplasia with multilocular thymic cysts diagnosed before the Sjögren syndrome diagnosis.
[So] Source:Diagn Pathol;10(1):103, 2015.
[Is] ISSN:1746-1596
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Thymic lymphoid hyperplasia is often present with myasthenia gravis as well as other autoimmune diseases such as systemic lupus erythematosus and rheumatoid arthritis. Of the 4 cases of thymic lymphoid hyperplasia associated with Sjögren syndrome that have been reported, no case with a thymic lesion diagnosis that led to the diagnosis of Sjögren syndrome has been reported. We herein report a case of thymic lymphoid hyperplasia with multilocular thymic cysts, diagnosed before Sjögren syndrome. CASE PRESENTATION: A 37-year-old Japanese woman had an approximate 5-cm anterior mediastinal mass detected by chest imaging. The resected lesion revealed multilocular thymic cysts that were filled with colloid-like material. Histology showed lymph follicular hyperplasia with many epithelial cysts. The epithelium consisted of thymic medullary epithelium, and no epithelial proliferation was seen in the lymphoid tissue. Lymphocytes were composed of an organized mixed population of mature T and B cells without significant atypia. The infiltrated B cells did not reveal light chain restriction or immunoglobulin heavy chain gene rearrangement. After the pathological diagnosis of thymic lesion, tests for the presence of autoantibodies were positive for antinuclear antibodies, rheumatic factor, and anti-SSA/Ro antibodies. The Schirmer's, chewing gum, and Saxon tests showed decreased salivary and lacrimal secretion. Lip biopsy showed focal lymphocytic sialadenitis. The signs and symptoms of Sjögren syndrome had not resolved, without aggravation, 1 year after the thymectomy. CONCLUSION: When a case with thymic lymphoid hyperplasia without myasthenia gravis is encountered, it is essential to consider the presence of another autoimmune disease including Sjögren syndrome.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1507
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1186/s13000-015-0332-y

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[PMID]: 25965706
[Au] Autor:Lip GY; Merino J; Ezekowitz M; Ellenbogen K; Zamoryakhin D; Lanz H; Jin J; Al-Saadi N; Mercuri M; Goette A
[Ad] Address:University of Birmingham Centre for Cardiovascular Sciences, City Hospital, Birmingham, United Kingdom; Aalborg University, Denmark. Electronic address: g.y.h.lip@bham.ac.uk....
[Ti] Title:A prospective evaluation of edoxaban compared to warfarin in subjects undergoing cardioversion of atrial fibrillation: The EdoxabaN vs. warfarin in subjectS UndeRgoing cardiovErsion of Atrial Fibrillation (ENSURE-AF) study.
[So] Source:Am Heart J;169(5):597-604.e5, 2015 May.
[Is] ISSN:1097-6744
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:We designed a prospective, randomized, open-label, blinded end point evaluation parallel group Phase 3b clinical trial comparing edoxaban (a new oral factor Xa inhibitor) with enoxaparin/warfarin followed by warfarin alone in subjects undergoing planned electrical cardioversion of non-valvular atrial fibrillation. The primary efficacy end point is the composite end points of stroke, systemic embolic event, myocardial infarction, and cardiovascular (CV) mortality, from randomization until the end of follow-up (day 56 post cardioversion). The primary safety end point is the composite of major and clinically-relevant non-major bleeding, from the first administration of study drug to end of treatment (Day 28 post cardioversion) +3 days. The primary efficacy analysis will be conducted on the intention-to-treat population whereas the primary safety analysis, on the safety population. The study includes stratification on the following levels: (i) approach to cardioversion (transoesophagel echocardiography or non-transoesophagel echocardiography) as determined by the Investigator; (ii) subject's experience in taking anticoagulants at the time of randomization (anticoagulant-experienced or anticoagulant-naïve); and (iii) assigned edoxaban dose (full 60 mg QD or reduced 30 mg dose QD). A subject with one or more factors (CrCl ≥15 mL/min and ≤50 mL/min, low body weight [≤60 kg], and concomitant use of p-pg inhibitors (excluding amiodarone) will receive a reduced dose (30 mg) of edoxaban if the subject is randomized to the edoxaban group. ENSURE-AF will be the largest prospective randomised trial of anticoagulation for cardioversion, also involving a Non-VKA Oral Anticoagulant-edoxaban.
[Mh] MeSH terms primary: Anticoagulants/therapeutic use
Atrial Fibrillation/therapy
Electric Countershock
Factor Xa Inhibitors/therapeutic use
Pyridines/therapeutic use
Thiazoles/therapeutic use
Warfarin/therapeutic use
[Mh] MeSH terms secundary: Adult
Atrial Fibrillation/complications
Atrial Fibrillation/drug therapy
Cardiovascular Diseases/mortality
Female
Humans
Male
Prospective Studies
Research Design
Stroke/etiology
Stroke/prevention & control
Thromboembolism/etiology
Thromboembolism/prevention & control
[Pt] Publication type:COMPARATIVE STUDY; JOURNAL ARTICLE; MULTICENTER STUDY; RANDOMIZED CONTROLLED TRIAL
[Nm] Name of substance:0 (Anticoagulants); 0 (Factor Xa Inhibitors); 0 (Pyridines); 0 (Thiazoles); 480449-70-5 (edoxaban); 5Q7ZVV76EI (Warfarin)
[Em] Entry month:1507
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:150513
[Cl] Clinical Trial:ClinicalTrial
[St] Status:MEDLINE

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[PMID]: 25616597
[Au] Autor:Vachirayonsti T; Ho KW; Yang D; Yan B
[Ad] Address:Department of Biomedical and Pharmaceutical Sciences, Center for Pharmacogenomics and Molecular Therapy, University of Rhode Island, Kingston, Rhode Island 02881....
[Ti] Title:Suppression of the pregnane X receptor during endoplasmic reticulum stress is achieved by down-regulating hepatocyte nuclear factor-4α and up-regulating liver-enriched inhibitory protein.
[So] Source:Toxicol Sci;144(2):382-92, 2015 Apr.
[Is] ISSN:1096-0929
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Endoplasmic reticulum (ER) stress is recognized as a common theme in the development of metabolic syndrome and other diseases. Chronic liver diseases develop ER stress and also show decreased capacity of drug metabolism. The pregnane X receptor (PXR) is a master regulator of genes involved in drug elimination. This study was performed to determine whether ER stress condition decreases the expression of PXR and whether the decrease alters the induction of cytochrome P450 3A4 (CYP3A4). Human primary hepatocytes and HepG2 cell line (human hepatocellular carcinoma) were treated with brefeldin A and thapsigargin, 2 well-established ER stressors. Without exceptions, both stressors significantly decreased the expression of PXR. The decrease led to reduced induction of CYP3A4. Reporter dissection study, electrophoretic mobility shift assay, and chromatin immunoprecipitation located in the PXR promoter region 2 adjacent elements recognized by hepatocyte nuclear factor-4α (HNF-4α) and cytidine-cytidine-adenosine-adenosine-thymidine enhanced binding proteins (C/EBPs), respectively. Additional studies demonstrated that HNF-4α was down-regulated during ER stress but the expression of C/EBPß varied depending on a particular form of C/EBPß. Liver-enriched activator protein (LAP) was down-regulated but liver-enriched inhibitory protein (LIP) was highly induced. Nevertheless, over-expression of HNF-4α or LAP restored the expression of PXR. Interestingly, the very same sequence also responded to interleukin-6 (IL-6), and primary hepatocytes treated with thapsigargin significantly increased the level of IL-6 mRNA. These findings establish a functional interconnection between ER stress and signaling of proinflammatory cytokines in the regulation of PXR expression.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Em] Entry month:1503
[Cu] Class update date: 150715
[Lr] Last revision date:150715
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1093/toxsci/kfv008

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[PMID]: 24674805
[Au] Autor:Avhad R; Sar R; Tembhurne J
[Ad] Address:Assistant Professor, Department of Prosthetic Dentistry, Government Dental College and Hospital, Mumbai, Maharashtra, India.
[Ti] Title:Presurgical management of unilateral cleft lip and palate in a neonate: a clinical report.
[So] Source:J Prosthet Dent;112(3):676-9, 2014 Sep.
[Is] ISSN:1097-6841
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:A cleft lip and palate consists of fissures of the upper lip and/or palate, and is the most commonly seen orofacial anomaly that involves the middle third of the face. Early treatment of patients with a cleft lip and palate is important because of esthetic, functional, and psychological concerns. Nasoalveolar molding provides excellent results when started immediately after birth. This clinical report describes the presurgical management of an infant with a complete unilateral cleft of the soft palate, hard palate, alveolar ridge, and lip.
[Mh] MeSH terms primary: Cleft Lip/therapy
Cleft Palate/therapy
[Mh] MeSH terms secundary: Alveolar Process/abnormalities
Cleft Lip/surgery
Cleft Palate/surgery
Dental Prosthesis Design
Humans
Infant, Newborn
Nose/abnormalities
Nose Diseases/therapy
Oral Fistula/therapy
Palatal Obturators
Palate, Hard/abnormalities
Palate, Soft/abnormalities
Preoperative Care
Respiratory Tract Fistula/therapy
Stents
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1507
[Js] Journal subset:D; IM
[Da] Date of entry for processing:140901
[St] Status:MEDLINE

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[PMID]: 24713069
[Au] Autor:Ishida T; Ono T
[Ad] Address:a Assistant Professor, Orthodontic Sciences, Department of Orofacial Development and Function, Division of Oral Health Sciences, Graduate School of Medical and Dental Sciences, Tokyo Medical Dental University (TMDU), Tokyo, Japan.
[Ti] Title:Asymmetric severe skeletal Class II division 1 patient with temporomandibular joint disorder treated with zygomatic anchorage devices and Ni-Ti alloy wires.
[So] Source:Angle Orthod;84(5):919-30, 2014 Sep.
[Is] ISSN:1945-7103
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To describe the orthodontic treatment of a nongrowing 30-year-old woman with asymmetric severe skeletal Class II malocclusions (asymmetric Angle Class II), large overjet (16 mm), large overbite (8 mm), two congenitally missing mandibular incisors (presenting a deciduous anterior tooth), and signs and symptoms of temporomandibular joint disorder (TMD). MATERIALS AND METHODS: We used novel improved super-elastic Ni-Ti alloy wires (ISWs) combined with Ni-Ti alloy coil springs, power hooks, and a zygomatic implant as reinforced anchorage to provide a constant and continuous mild force to the dentition. RESULTS: We successfully distalized maxillary molars, premolars, and retracted anterior teeth and corrected the asymmetric Angle Class II molar relationship using this system of zygomatic anchorage in conjunction with ISWs, Ni-Ti alloy open-coil springs, and crimpable power hook. The maxillary molars were distalized, and postero-occlusal relationships were improved to achieve Class I canine and molar relationships on both sides. Intrusion of the upper molars made the mandibular plane close. Ideal overbite and overjet relationships were established. Facial esthetics were improved with decreased upper and lower lip protrusion, and no symptoms of TMD were observed after treatment. CONCLUSION: The orthodontic treatment described here is a promising anchorage technique alternative to traditional techniques to improve severe skeletal Class II with TMD.
[Mh] MeSH terms primary: Dental Alloys/chemistry
Malocclusion, Angle Class II/therapy
Nickel/chemistry
Orthodontic Anchorage Procedures/methods
Orthodontic Wires
Temporomandibular Joint Disorders/therapy
Titanium/chemistry
Zygoma/pathology
[Mh] MeSH terms secundary: Adult
Anodontia/therapy
Bicuspid/pathology
Cephalometry/methods
Cuspid/pathology
Esthetics
Facial Asymmetry/therapy
Female
Humans
Incisor/abnormalities
Lip/pathology
Molar/pathology
Orthodontic Anchorage Procedures/instrumentation
Orthodontic Appliance Design
Overbite/therapy
Patient Care Planning
Tooth Movement/instrumentation
Tooth Movement/methods
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Dental Alloys); 12035-60-8 (titanium nickelide); 7OV03QG267 (Nickel); D1JT611TNE (Titanium)
[Em] Entry month:1507
[Js] Journal subset:D; IM
[Da] Date of entry for processing:140830
[St] Status:MEDLINE
[do] DOI:10.2319/010414-13.1

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[PMID]: 24592905
[Au] Autor:Pithon MM; Palmeira LM; Barbosa AA; Pereira R; de Andrade AC; Coqueiro Rda S
[Ad] Address:a Professor Orthodontics, Department of Health I, Southwest Bahia State University, Jequié, Bahia, Brazil.
[Ti] Title:Craniofacial features of patients with sickle cell anemia and sickle cell trait.
[So] Source:Angle Orthod;84(5):825-9, 2014 Sep.
[Is] ISSN:1945-7103
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To identify the craniofacial characteristics of patients with sickle cell trait (SCT) and sickle cell anemia (SCA) and to compare these measurements with those of nonaffected subjects. MATERIALS AND METHODS: Clinically normal patients and those with SCT and SCA were evaluated in this study. The patients were divided into three groups: normal (control), SCA, and SCT (n  =  with 15 in each group). Inclusion criteria were SCA or SCT verified by laboratory methods and no treatment with fixed orthodontics or facial orthopedics. Lateral cephalometric radiographs were carried out and were used to obtain angular and linear measurements of anatomic structures displayed. All markings and measurements were performed by a single examiner. RESULTS: The average ANB was increased in groups with SCA (5.47 ± 2.0°) and SCT (3.80 ± 1.4°), indicating a tendency to Class II. The mean SNA angle was 83.0 ± 3.8° and 82.1±3.5° for SCA and SCT, indicating a proper positioning of the jaw from the skull base. There was an interaction between the group and sex factors for the variable SN-GoGn; measures were higher for men in the SCA group. CONCLUSION: Patients with SCA and SCT exhibited characteristics of Class II skeletal pattern because of mandibular retrusion. Most patients showed no compensatory maxillary expansion, which was determined by the normal jaw length and absence of maxillary protrusion.
[Mh] MeSH terms primary: Anemia, Sickle Cell/radiography
Cephalometry/methods
Facial Bones/radiography
Sickle Cell Trait/radiography
Skull/radiography
[Mh] MeSH terms secundary: Cross-Sectional Studies
Female
Forehead/radiography
Humans
Incisor/radiography
Lip/radiography
Male
Malocclusion, Angle Class II/radiography
Mandible/radiography
Maxilla/radiography
Molar/radiography
Nasal Bone/radiography
Orbit/radiography
Pterygopalatine Fossa/radiography
Radiography, Dental, Digital/methods
Sella Turcica/radiography
Sex Factors
Skull Base/radiography
Young Adult
[Pt] Publication type:COMPARATIVE STUDY; JOURNAL ARTICLE
[Em] Entry month:1507
[Js] Journal subset:D; IM
[Da] Date of entry for processing:140830
[St] Status:MEDLINE
[do] DOI:10.2319/101513-764.1

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[PMID]: 23714877
[Au] Autor:Arangio P; Manganaro L; Pacifici A; Basile E; Cascone P
[Ad] Address:Department of Maxillofacial Surgery, "Sapienza" University of Rome, Italy.
[Ti] Title:Importance of fetal MRI in evaluation of craniofacial deformities.
[So] Source:J Craniofac Surg;24(3):773-6, 2013 May.
[Is] ISSN:1536-3732
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:AIM: This retrospective study aims at demonstrating the importance of a correct and detailed early diagnosis of craniomaxillofacial malformations affecting the fetus, which would (1) allow improvement in ultrasonography (US) diagnosis, (2) help in planning the therapeutic-surgical procedure, and (3) improve handling of the pathology by the families. MATERIALS AND METHODS: Between 2008 and 2011, a sample of 28 fetuses was selected, all with an ultrasound diagnosis of cleft lip (cheiloschisis-CL) and cleft lip and palate (palatoschisis-CLP) and craniofacial malformation, whose mothers had all underwent ultrasound diagnostic examinations and nuclear magnetic resonance (MRI). All cases were submitted to US examination between the 12th and 19th week of pregnancy, US-3D examination performed by a specialist radiologist between the 19th and 22nd week, and MRI examination between the 23rd and 33rd week of pregnancy. RESULTS: The MRI confirmed the ultrasound diagnosis of 16/28 cases and added information in 11/28 cases, and in 1 (1/28) case, the MRI denied previous CL-CLP ultrasound diagnosis. Moreover, in this study MRI improved the analysis of the entire morphology of the fetuses in cases when syndromic involvement with the involvement of other organs needs to be determined. CONCLUSIONS: The MRI method in fetal patients allows to obtain more details regarding the CL-CLP studied, allowing the medical-surgical team to plan, before the birth, the type of postnatal assessment and surgery to be performed, thus minimizing the impact on neonatal health and improving quality of life of both the patient and his family.
[Mh] MeSH terms primary: Craniofacial Abnormalities/diagnosis
Fetal Diseases/diagnosis
Magnetic Resonance Imaging/methods
Prenatal Diagnosis/methods
[Mh] MeSH terms secundary: Chromosomes, Human, Pair 13
Cleft Lip/diagnosis
Cleft Lip/ultrasonography
Cleft Palate/diagnosis
Cleft Palate/ultrasonography
Craniofacial Abnormalities/ultrasonography
Down Syndrome/diagnosis
Down Syndrome/ultrasonography
Female
Fetal Diseases/ultrasonography
Gestational Age
Holoprosencephaly/diagnosis
Holoprosencephaly/ultrasonography
Humans
Mouth Abnormalities/diagnosis
Mouth Abnormalities/ultrasonography
Patient Care Planning
Pregnancy
Quality of Life
Retrospective Studies
Trisomy/diagnosis
Ultrasonography, Prenatal/methods
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1507
[Js] Journal subset:D
[Da] Date of entry for processing:130529
[St] Status:MEDLINE
[do] DOI:10.1097/SCS.0b013e318286988c

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[PMID]: 25472840
[Au] Autor:Balasubramanian R; Choi JH; Francescatto L; Willer J; Horton ER; Asimacopoulos EP; Stankovic KM; Plummer L; Buck CL; Quinton R; Nebesio TD; Mericq V; Merino PM; Meyer BF; Monies D; Gusella JF; Al Tassan N; Katsanis N; Crowley WF
[Ad] Address:Harvard Reproductive Endocrine Sciences Center & Reproductive Endocrine Unit of the Department of Medicine, and Medicine....
[Ti] Title:Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
[So] Source:Proc Natl Acad Sci U S A;111(50):17953-8, 2014 Dec 16.
[Is] ISSN:1091-6490
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Inactivating mutations in chromodomain helicase DNA binding protein 7 (CHD7) cause CHARGE syndrome, a severe multiorgan system disorder of which Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is a minor feature. Recent reports have described predominantly missense CHD7 alleles in IGD patients, but it is unclear if these alleles are relevant to causality or overall genetic burden of Kallmann syndrome (KS) and normosmic form of IGD. To address this question, we sequenced CHD7 in 783 well-phenotyped IGD patients lacking full CHARGE features; we identified nonsynonymous rare sequence variants in 5.2% of the IGD cohort (73% missense and 27% splice variants). Functional analyses in zebrafish using a surrogate otolith assay of a representative set of these CHD7 alleles showed that rare sequence variants observed in controls showed no altered function. In contrast, 75% of the IGD-associated alleles were deleterious and resulted in both KS and normosmic IGD. In two families, pathogenic mutations in CHD7 coexisted with mutations in other known IGD genes. Taken together, our data suggest that rare deleterious CHD7 alleles contribute to the mutational burden of patients with both KS and normosmic forms of IGD in the absence of full CHARGE syndrome. These findings (i) implicate a unique role or preferential sensitivity for CHD7 in the ontogeny of GnRH neurons, (ii) reiterate the emerging genetic complexity of this family of IGD disorders, and (iii) demonstrate how the coordinated use of well-phenotyped cohorts, families, and functional studies can inform genetic architecture and provide insights into the developmental biology of cellular systems.
[Mh] MeSH terms primary: DNA Helicases/genetics
DNA-Binding Proteins/genetics
Deficiency Diseases/genetics
Gonadotropin-Releasing Hormone/deficiency
Kallmann Syndrome/genetics
Phenotype
Zebrafish/genetics
[Mh] MeSH terms secundary: Animals
Base Sequence
CHARGE Syndrome/genetics
CHARGE Syndrome/pathology
DNA Helicases/metabolism
DNA-Binding Proteins/metabolism
Gene Knockdown Techniques
Gonadotropin-Releasing Hormone/genetics
Humans
Molecular Sequence Data
Mutation, Missense/genetics
Otolithic Membrane/pathology
Protein Structure, Tertiary
Sequence Analysis, DNA
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (DNA-Binding Proteins); 33515-09-2 (Gonadotropin-Releasing Hormone); EC 3.6.4.- (DNA Helicases); EC 3.6.4.12 (CHD7 protein, human)
[Em] Entry month:1504
[Cu] Class update date: 150712
[Lr] Last revision date:150712
[Js] Journal subset:IM
[Da] Date of entry for processing:141217
[St] Status:MEDLINE
[do] DOI:10.1073/pnas.1417438111

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[PMID]: 24476608
[Au] Autor:Akoglu G; Metin A; Emre S; Ersoy R; Cakir B
[Ti] Title:Cutaneous findings in patients with acromegaly.
[So] Source:Acta Dermatovenerol Croat;21(4):224-9, 2013.
[Is] ISSN:1847-6538
[Cp] Country of publication:Croatia
[La] Language:eng
[Ab] Abstract:Acromegaly is a systemic syndrome caused by overproduction of growth hormone. The syndrome affects cutaneous, endocrine, cardiovascular, skeletal, and respiratory systems. Cutaneous manifestations of acromegaly are various, usually being the first presenting findings of the disease. Forty-nine patients with acromegaly, followed-up at a tertiary referral hospital, underwent dermatological examination. There were 27 (55.1%) female and 22 (44.9%) male patients. The age at onset of the disease was older in females than males (P=0.045). Most patients had acral enlargements, large triangular nose, coarse face, thickened lower lip, and prognathism. Fourteen (28.6%) patients had multiple cherry angiomas, five (10.2%) had varicose veins in lower limbs, and two (4.1%) had psoriasis. In conclusion, a wide spectrum of cutaneous symptoms and features may be associated with acromegaly. Detailed dermatological examination of patients with acromegaly should be an essential component of systemic evaluation. Future prospective studies investigating the relationships between changes in skin signs, hormone levels, and response to treatments may help understand details of skin involvement in acromegaly.
[Mh] MeSH terms primary: Acromegaly/complications
Skin Diseases/etiology
[Mh] MeSH terms secundary: Adult
Cross-Sectional Studies
Female
Humans
Male
Middle Aged
Psoriasis/complications
Varicose Veins/complications
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1504
[Cu] Class update date: 150713
[Lr] Last revision date:150713
[Js] Journal subset:IM
[Da] Date of entry for processing:140130
[St] Status:MEDLINE


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BIREME/PAHO/WHO - Latin American and Caribbean Center on Health Sciences Information