Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 21
Filter
1.
Niger J Clin Pract ; 26(6): 810-818, 2023 Jun.
Article in English | MEDLINE | ID: mdl-37470657

ABSTRACT

Background and Aim: The aim of this study is to evaluate the relationship between the Early Childhood Caries (ECC)/severe-ECC (S-ECC) and prolonged breast-feeding (BF), bottle-feeding, and oral hygiene habits in 0-year-old to 5-year-old Turkish children. Patients and Methods: Dental examinations were performed on 255 patients to determine the prevalence of the ECC and the S-ECC as per the definition of the American Academy of Pediatric Dentistry. To predict the progress rate of caries, noncavitated and cavitated lesion scores were assessed by using the International caries detection and assessment system II criteria. Information on infant feeding practices, oral hygiene habits, maternal characteristics, and demographic features were gathered by means of a questionnaire. The results were statistically evaluated. Results: There were no associations between BF duration, night-time BF, bottle-feeding, and the ECC. And there were also no associations between BF duration, night-time BF, bottle-feeding, and the S-ECC. Cavitated lesions were more common in children breastfed at night for 18-23 months compared to 12-17 months (P = 0.031). Sweetened bottle was an impact factor on caries experience (P = 0.042). A significant correlation was found for dmft, S-ECC, and the cavitated lesions regarding sugar consumption (P = .001, P = .002, and P = .001, respectively). Early introduction to tooth-brushing and regular dental visits were significantly effective in reducing the ECC (P < .001 and P < .001, respectively). Conclusion: BF and bottle-feeding practices were not associated with the ECC/S-ECC. Sweetened bottles and sugary foods are strong risk factors for the ECC/S-ECC.


Subject(s)
Dental Caries , Oral Hygiene , Child , Female , Humans , Child, Preschool , Infant , Infant, Newborn , Cross-Sectional Studies , Dental Caries Susceptibility , Breast Feeding , Bottle Feeding , Risk Factors , Prevalence , Dental Caries/epidemiology , Dental Caries/etiology , Dental Caries/prevention & control
2.
J Gastrointest Cancer ; 53(1): 41-44, 2022 Mar.
Article in English | MEDLINE | ID: mdl-33400209

ABSTRACT

INTRODUCTION: Although pancreatic cancer ranks seventh in cancer-related deaths, it is an extremely fatal disease, and more than 330,000 people die from this disease worldwide. Although there are many first-line treatment studies in the literature, there are almost no prospective studies regarding second-line therapy. Therefore, there is no standard approach in the second-line treatment of pancreatic cancer. We decided to conduct this study to investigate second-line treatments with problems such as cost, treatment efficacy, and toxicity. METHODS: Patients older than 18 years old who applied to Ege University Hospital medical oncology department with a diagnosis of metastatic pancreatic cancer, who received first-line chemotherapy due to their illness, and who had progressed afterwards were included in the study. The files of the patients who applied between 2013 and 2017 were examined. RESULTS: Our study's primary endpoint was progression-free survival, and it was found that the median progression-free survival was 3.2 months in the Xelox patients, 3.7 months in the gemcitabine-nab paclitaxel patients, and 3.5 months in the other regimens. When the secondary endpoint was evaluated, overall survival, the median overall survival was 5.9 months in the Xelox patients, 5.3 months in the gemcitabine-nab paclitaxel patients, and 4.8 months in the other regimens. CONCLUSION: As a result, second-line treatments were compared, and no statistically significant difference was found between them. For this reason, the side effects of previously used drugs and the side effects of new drugs to be used, as well as their costs, should be evaluated when choosing a treatment.


Subject(s)
Deoxycytidine , Pancreatic Neoplasms , Adolescent , Albumins/therapeutic use , Antineoplastic Combined Chemotherapy Protocols , Humans , Paclitaxel/adverse effects , Paclitaxel/therapeutic use , Pancreatic Neoplasms/pathology , Treatment Outcome
5.
Eur J Paediatr Dent ; 21(4): 326-330, 2020 Dec.
Article in English | MEDLINE | ID: mdl-33337911

ABSTRACT

AIM: The aim of this study is to determine the age and most common reasons of the first dental visit among preschool children, taking into account family income and parental education in Turkey. METHODS: This cross-sectional study was conducted in a state dental hospital on 519 children aged 0-5 years who had their first dental visit with no previous dental experience. Data on age and reasons for the first dental visit of the children and parent relevant data on family income, educational level, dental visit frequency, and satisfaction about the oral health care information was collected by means of a questionnaire. RESULTS: Of the 519 children of the study, 47.4% were males and 52.6% were females. The mean age of first dental visit was 3.62±1.32 and 2.9% of the children had been visited under the age of 1 year. Pain (36.4%) was the main reason for the visit followed mostly by check-up (23.1%), other reasons (21.4%), and decay noted by parents (15.6%). There was no referral from paediatricians. Parental educational level was not found as an impact factor for the reasons and the age of the visit (p=0.394; p=0.245). Children of low-income-family were more likely to have dental visit due to pain (p=0.002). The frequency of parents' dental visits was not a determinant factor for the reason and the age of the child's visit (p>0.05; p>0.05). All the parents were satisfied with the oral health information. CONCLUSION: It is necessary to raise awareness about early dental visits and oral health care among parents and paediatricians.


Subject(s)
Dental Caries , Oral Health , Child, Preschool , Cross-Sectional Studies , Female , Humans , Infant , Infant, Newborn , Male , Parents , Surveys and Questionnaires , Turkey
6.
Eur J Paediatr Dent ; 21(1): 61-65, 2020 Mar.
Article in English | MEDLINE | ID: mdl-32183531

ABSTRACT

AIM: Providing oral health care to children from infant to toddler age can be achieved by educating and informing parents about their children’s oral health. The aims of this study were to determine the basic knowledge of oral health and to evaluate the efficacy of an infant oral health education programme among parents in Turkey. METHODS: Study Design: One hundred and fifty parents of infants between 3 and 12 months of age attending the well-baby clinic, Dr. Behcet Uz Children’s Hospital (Izmir, Turkey), participated in the study. A pre-test questionnaire was administered to each parent to assess their infant oral health knowledge. The educational intervention was in the form of a 30-minute interactive explanation of a PowerPoint presentation. The parents completed a post-test after the education in the same session (a questionnaire was administered). RESULTS: The range of correct answers on the pre-test was 7–20 of 26 with a mean of 13.7 (SD=2.76). The range of correct answers on the post-test was 12–26 of 26 with a mean of 21.2 (SD=3.34). The difference of correct responses between before and after education was found to be statistically significant (p<0.01). CONCLUSION: Under the conditions of this study, educational presentation improved parents’ knowledge on infant oral health care and provided anticipatory guidance.


Subject(s)
Health Promotion , Oral Health , Child, Preschool , Health Knowledge, Attitudes, Practice , Humans , Infant , Parents , Turkey
7.
Heliyon ; 6(1): e03124, 2020 Jan.
Article in English | MEDLINE | ID: mdl-31909281

ABSTRACT

Magnetic nanoparticles are key components in many fields of science and industry. Especially in cancer diagnosis and therapy, they are involved in targeted drug delivery and hyperthermia applications due to their ability to be controlled remotely. In this study, a PEG-coated Fe/Fe3O4 core-shell nanoparticle with an average size of 20 nm and 13 nm and high room temperature coercivity (350 Oe) has been successfully synthesized. These nanoparticles were further tested for their effect on cellular toxicity (IC50) and proliferation by WST assay. In addition, their potential as anti-cancer agents were assessed using scratch assay in NIH3T3 mouse embryonic fibroblast and A549 non-small cell lung cancer cell lines. In previous reports, the IC50 values of the magnetite nanoparticles are reported at concentrations of 100 µg/ml and higher. In this study, IC50 value is observed to be at 1 µg/ml, which is significantly lower when compared to similar studies. In scratch assay, the Fe/Fe3O4 core-shell nanoparticle showed a higher inhibitory potential on cell motility in A549 lung cancer cells in comparison to the NIH3T3 cells mouse embryonic fibroblasts. This could be due to the accelerated release of free Fe ion from the Fe core, resulting in cell death. Consequently, data obtained from this study suggest that the synthesized nanoparticles can be a potential drug candidate with anti-cancer activity for chemotherapeutic treatment.

8.
Niger J Clin Pract ; 22(11): 1489-1494, 2019 Nov.
Article in English | MEDLINE | ID: mdl-31719269

ABSTRACT

OBJECTIVE: To evaluate clinical and histological characteristics and determine the incidence of natal/neonatal teeth in a large Turkish population. SUBJECTS AND METHODS: Among 17,829 newborns, who were hospitalized at the Neonatal Clinic of a governmental Children's Hospital between 2005 and 2011, 27 neonates were diagnosed with erupted teeth, which were examined in terms of location, clinical appearance and mobility. Besides histological evaluation, a positive family history was also recorded. The variables were analyzed using Chi-square test. RESULTS: Thirty-two natal/neonatal teeth were observed in 27 infants. The incidence of both natal and neonatal teeth was found to be 1:660, while the incidences were separately recorded as 1:1,048 and 1:1,782, respectively. The histological examination revealed a thin hypoplastic enamel layer and a normal dentin layer. There was no difference between the two genders in terms of natal/neonatal tooth type, positive family history and tooth morphology (p > 0.05); or between normal and conical shapes with regard to natal/neonatal tooth type, positive family history and tooth color (p > 0.05). CONCLUSIONS: This study exhibited a higher incidence in natal teeth than neonatal teeth. Macroscopic features were not found to be positively related to gender and tooth type.


Subject(s)
Natal Teeth/surgery , Tooth Eruption , Tooth Extraction , Tooth, Supernumerary/epidemiology , Child , Female , Humans , Incidence , Infant , Infant, Newborn , Male , Natal Teeth/pathology , Retrospective Studies , Surveys and Questionnaires , Tooth Abnormalities , Tooth, Supernumerary/surgery , Turkey/epidemiology
9.
Malays Orthop J ; 12(2): 47-51, 2018 Jul.
Article in English | MEDLINE | ID: mdl-30112129

ABSTRACT

An 18-year old male patient, with a history of paragliding accident, sustaining a coronal shear fracture of the body of the talus, an anterior process fracture of the calcaneus extending to the calcaneocuboid joint and a nondisplaced navicular body fracture at the right foot and a displaced fracture of the navicular body accompanied with posteromedial process fracture of the talus at the left side was referred to our emergency clinic. For the right foot, the coronal plane fracture of the talar body was anatomically reduced and fixed with screws. For the left foot, screw fixation was performed through the lateral aspect to fix the large posteromedial fragment. Small bone fragments were removed from the left navicular fracture, and the main fragments were also fixed with screw. The talo-navicular joint was stabilised with a Kirschner wire. At 36 months follow-up, bilateral foot and ankle functions were satisfactory, Maryland scores of the right and left foot were 85 (good) and 90 (excellent), respectively, and the patient regained his full activity level by the 5th month postoperatively. With reference to the number and types of fractures in this one patient, we present a standard protocol for treatment of isolated talus, navicular and calcaneal fractures presenting together in a single foot injury.

10.
Article in English | WPRIM (Western Pacific) | ID: wpr-756920

ABSTRACT

@#An 18-year old male patient, with a history of paragliding accident, sustaining a coronal shear fracture of the body of the talus, an anterior process fracture of the calcaneus extending to the calcaneocuboid joint and a nondisplaced navicular body fracture at the right foot and a displaced fracture of the navicular body accompanied with posteromedial process fracture of the talus at the left side was referred to our emergency clinic. For the right foot, the coronal plane fracture of the talar body was anatomically reduced and fixed with screws. For the left foot, screw fixation was performed through the lateral aspect to fix the large posteromedial fragment. Small bone fragments were removed from the left navicular fracture, and the main fragments were also fixed with screw. The talo-navicular joint was stabilised with a Kirschner wire. At 36 months follow-up, bilateral foot and ankle functions were satisfactory, Maryland scores of the right and left foot were 85 (good) and 90 (excellent), respectively, and the patient regained his full activity level by the 5th month postoperatively. With reference to the number and types of fractures in this one patient, we present a standard protocol for treatment of isolated talus, navicular and calcaneal fractures presenting together in a single foot injury.

11.
Eur J Gynaecol Oncol ; 38(1): 139-142, 2017.
Article in English | MEDLINE | ID: mdl-29767884

ABSTRACT

In the present case report, the authors investigated the clinicopathological characteristics of squamous cell carcinoma (SCC) arising from teratoma of the ovary and intended to report their clinical experience. Malignant transformation of ovarian teratoma is a quite rare condition with SCC observed to be the most common form of transformation. The present case was a 43-year-old female patient and her clinical presentation was abdominal pain, abdominal distension, and abdominal mass sensation. The patient underwent ultrasonography. After detection of a mass, magnetic resonance imaging (MRI) was performed. Surgery was performed on the patient and the pathological report revealed SCC arising from teratoma. The patient was evaluated retrospectively in terms of demographic characteristics, MRI, surgical findings, and prognosis.


Subject(s)
Carcinoma, Squamous Cell/diagnostic imaging , Carcinoma, Squamous Cell/pathology , Ovarian Neoplasms/diagnostic imaging , Ovarian Neoplasms/pathology , Teratoma/diagnostic imaging , Teratoma/pathology , Adult , Female , Humans , Magnetic Resonance Imaging , Tomography, X-Ray Computed
13.
Genet Couns ; 24(2): 133-9, 2013.
Article in English | MEDLINE | ID: mdl-24032282

ABSTRACT

GAPO syndrome is a rare autosomal recessive disease and an acronym composed of growth retardation, alopecia, pseudoanodontia, optic atrophy. Approximately 38 cases have been reported in literature until now. Pyoderma vegetans is a chronic inflammatory disease characterized with vesicopustular, exudative and vegetative lesions usually localized on face, scalp, axilla and genitalia. Pyoderma vegetans is attributed to a bacterial infection frequently occurring in individuals with an underlying immunosuppressive condition. A 30-year-old female patient was admitted to our clinic with complaint of a hemorrhagic, crusted, exudative vegetative two plaques on the scalp. On her physical examination, she had a prematurely aged face, predominant lower lips, total tooth loss, frontal bossing, enlarged anterior fontanelle, marked scalp veins, micrognatia, depressed nasal bridge, short stature, growth retardation. She was diagnosed as GAPO syndrome as the result of her physical examination. Result of the biopsy taken from scalp was evaluated as pyoderma vegetans. And the diagnosis of pyoderma vegetans was established based on the correlate of both clinical and histopathologic findings. Pyoderma vegetans coexisting with GAPO syndrome has not been reported previously. Thus we wished to report it.


Subject(s)
Alopecia/diagnosis , Anodontia/diagnosis , Growth Disorders/diagnosis , Optic Atrophies, Hereditary/diagnosis , Pyoderma/pathology , Adult , Alopecia/epidemiology , Anodontia/epidemiology , Anti-Bacterial Agents/administration & dosage , Cephalexin/administration & dosage , Comorbidity , Female , Growth Disorders/epidemiology , Humans , Optic Atrophies, Hereditary/epidemiology , Pyoderma/drug therapy , Pyoderma/epidemiology , Treatment Outcome
14.
Cutan Ocul Toxicol ; 32(1): 86-8, 2013 Mar.
Article in English | MEDLINE | ID: mdl-22380023

ABSTRACT

Toxic epidermal necrolysis (TEN) is rare, life-threatening skin disorder that usually is caused by an adverse drug reaction. The exact pathogenesis of TEN is still unknown. Many treatments including prednisolone, cyclosporine and intravenous immunoglobulin (IVIG) can be used to halt the disease process. We present a 12-year-old girl with epilepsy who developed TEN after about 14 days of lamotrigine treatment. Lamotrigine was immediately discontinued. After receiving systemic corticosteroid treatment, the patient had a complete recovery. Antiepileptic-induced TEN can be mortal in some cases. Thus, we would like to point out the importance of early diagnosis and treatment.


Subject(s)
Anticonvulsants/adverse effects , Stevens-Johnson Syndrome/etiology , Triazines/adverse effects , Anticonvulsants/administration & dosage , Child , Drug Combinations , Epilepsy/drug therapy , Female , Humans , Lamotrigine , Levetiracetam , Piracetam/administration & dosage , Piracetam/analogs & derivatives , Stevens-Johnson Syndrome/pathology , Triazines/administration & dosage
15.
Br J Radiol ; 85(1016): 1038-43, 2012 Aug.
Article in English | MEDLINE | ID: mdl-22815410

ABSTRACT

OBJECTIVES: The aim of the study was to assess the effect of paricalcitol on the experimental contrast-induced nephropathy (CIN) model. We hypothesised that paricalcitol may prevent CIN. METHODS: 32 Wistar albino rats were divided into four groups (n=8 each): control group, paricalcitol group, CIN group and paricalcitol plus CIN group. Paricalcitol (0.4 µg kg(-1) day(-1)) was given intraperitoneally for 5 consecutive days prior to induction of CIN. CIN was induced at day 4 by intravenous injection of indometacin (10 mg kg(-1)), Nω-nitro-L-arginine methyl ester (L-NAME, 10 mg kg(-1)) and meglumine amidotrizoate (6 ml kg(-1)). Renal function parameters, oxidative stress biomarkers, histopathological findings and vascular endothelial growth factor (VEGF) immunoexpression were evaluated. RESULTS: The paricalcitol plus CIN group had lower mean serum creatinine levels (p=0.034) as well as higher creatinine clearance (p=0.042) than the CIN group. Serum malondialdehyde and kidney thiobarbituric acid-reacting substances levels were significantly lower in the paricalcitol plus CIN group than in the CIN group (p=0.024 and p=0.042, respectively). The mean scores of tubular necrosis (p=0.024), proteinaceous casts (p=0.038), medullary congestion (p=0.035) and VEGF immunoexpression (p=0.018) in the paricalcitol plus CIN group were also significantly lower. CONCLUSION: This study demonstrates the protective effect of paricalcitol in the prevention of CIN in an experimental model.


Subject(s)
Antioxidants/pharmacology , Contrast Media/toxicity , Ergocalciferols/pharmacology , Kidney Diseases/prevention & control , Renal Agents/pharmacology , Analysis of Variance , Animals , Biomarkers/metabolism , Immunohistochemistry , Kidney Diseases/chemically induced , Kidney Diseases/physiopathology , Male , Oxidative Stress/physiology , Random Allocation , Rats , Rats, Wistar , Vascular Endothelial Growth Factor A/metabolism
16.
Genet Couns ; 23(1): 57-63, 2012.
Article in English | MEDLINE | ID: mdl-22611643

ABSTRACT

Incontinentia pigmenti (IP) is a rare, X-linked dominant disorder that presents at or soon after birth and presents with cutaneous signs and symptoms. Besides its typical skin signs presenting in all patients, central nervous system (CNS), ophthalmologic and dental involvement are encountered as well. In this report, we present two patients at the verrucous stage of IP and review the literature concerning the diagnosis and course of IP.


Subject(s)
Eye/pathology , Incontinentia Pigmenti/diagnosis , Skin/pathology , Child, Preschool , Female , Humans , Infant
17.
Hum Exp Toxicol ; 31(12): 1292-4, 2012 Dec.
Article in English | MEDLINE | ID: mdl-22531967

ABSTRACT

Fixed drug eruption (FDE) usually develops after oral administration and is described as a cutaneous reaction recurring at the same location each time the drug is taken. Olopatadine is both a H1 histamine receptor antagonist and a mast cell stabilizer, indicated for the treatment of allergic conjunctivitis. Here, we report a 14-year-old male patient who developed FDE localised on the lateral side of periorbital rim bilaterally, whilst applying olopatadine 0.1% ophthalmic solution for the treatment of allergic conjunctivitis. As far as we know, FDE due to olopatadine has not been previously reported in the literature. We deem it appropriate to report this case because FDE that results from the application of topical drugs is a rare event in the literature.


Subject(s)
Anti-Inflammatory Agents, Non-Steroidal/adverse effects , Dibenzoxepins/adverse effects , Drug Eruptions/etiology , Ophthalmic Solutions/adverse effects , Orbital Diseases/chemically induced , Administration, Topical , Adolescent , Conjunctivitis, Allergic/complications , Conjunctivitis, Allergic/drug therapy , Drug Eruptions/pathology , Humans , Male , Olopatadine Hydrochloride , Orbit/drug effects , Orbit/pathology , Orbital Diseases/pathology
18.
Oncogene ; 31(3): 269-81, 2012 Jan 19.
Article in English | MEDLINE | ID: mdl-21706056

ABSTRACT

Ezrin is a multifunctional protein that connects the actin cytoskeleton to the extracellular matrix through transmembrane proteins. High ezrin expression is associated with lung metastasis and poor survival in cancer. We screened small molecule libraries for compounds that directly interact with ezrin protein using surface plasmon resonance to identify lead compounds. The secondary functional assays used for lead compound selection included ezrin phosphorylation as measured by immunoprecipitation and in vitro kinase assays, actin binding, chemotaxis, invasion into an endothelial cell monolayer, zebrafish and Xenopus embryonic development, mouse lung organ culture and an in vivo lung metastasis model. Two molecules, NSC305787 and NSC668394, that directly bind to ezrin with low micromolar affinity were selected based on inhibition of ezrin function in multiple assays. They inhibited ezrin phosphorylation, ezrin-actin interaction and ezrin-mediated motility of osteosarcoma (OS) cells in culture. NSC305787 mimicked the ezrin morpholino phenotype, and NSC668394 caused a unique developmental defect consistent with reduced cell motility in zebrafish. Following tail vein injection of OS cells into mice, both molecules inhibited lung metastasis of ezrin-sensitive cells, but not ezrin-resistant cells. The small molecule inhibitors NSC305787 and NSC668394 demonstrate a novel targeted therapy that directly inhibits ezrin protein as an approach to prevent tumor metastasis.


Subject(s)
Adamantane/analogs & derivatives , Antineoplastic Agents/pharmacology , Bone Neoplasms/pathology , Cytoskeletal Proteins/antagonists & inhibitors , Lung Neoplasms/secondary , Osteosarcoma/secondary , Phenols/pharmacology , Quinolines/pharmacology , Quinolones/pharmacology , Actins/antagonists & inhibitors , Adamantane/chemistry , Adamantane/pharmacology , Animals , Antineoplastic Agents/chemistry , Cell Line, Tumor , Cell Movement/drug effects , Female , Mice , Mice, Inbred BALB C , Neoplasm Invasiveness/pathology , Organ Culture Techniques , Osteosarcoma/metabolism , Phenols/chemistry , Phosphorylation/drug effects , Quinolines/chemistry , Quinolones/chemistry , Surface Plasmon Resonance , Xenopus , Zebrafish
19.
Br Dent J ; 205(5): E10; discussion 258-9, 2008 Sep 13.
Article in English | MEDLINE | ID: mdl-18791585

ABSTRACT

OBJECTIVE: This study compared a computerised device (the Wand) with a conventional syringe in terms of the pain of needle insertion and injection during inferior alveolar nerve (IAN) block injection. METHODS AND MATERIALS: The subjects were 40 patients between the ages of 18 and 30 years requiring local anaesthesia for dental restoration in the mandible. Before anaesthetic administration, the patients' anxiety levels were determined. Contralateral IAN injections were administrated at two separate appointments with random use of either the Wand or a conventional syringe. Following the injection, the patients used both the pain rating score (PRS) and a visual analogue scale (VAS) to assess the intensity of pain. RESULTS: When pain was measured after the injection, the Wand was found to be less painful than the syringe for the pain of both needle insertion and injection (p <0.05). CONCLUSION: The Wand technique resulted in significantly lower pain scores during the IAN block injections. Most of the patients preferred the IAN injection with the Wand for future dental injections.


Subject(s)
Anesthesia, Dental/methods , Anesthetics, Local/administration & dosage , Carticaine/administration & dosage , Facial Pain/prevention & control , Nerve Block/methods , Therapy, Computer-Assisted/instrumentation , Adolescent , Adult , Dental Anxiety/prevention & control , Female , Humans , Injections/instrumentation , Male , Mandibular Nerve , Pain Measurement , Syringes , Young Adult
20.
J Int Med Res ; 35(6): 867-72, 2007.
Article in English | MEDLINE | ID: mdl-18034999

ABSTRACT

Vangl2 (Van Gogh-like 2) protein acts via non-canonical Wnt signalling to regulate polarized cell movements during development of the proximal outflow tract in vertebrate embryos. Recently, it has been shown that mutations of the Vangl2 gene cause aortic arch defects that are characteristic of the loop-tail (Lp) mouse and they have also became a strong candidate for causing congenital outflow tract defects in humans. Thus, in this study Tetralogy of Fallot (ToF), which comprises a group of syndromes that constitutes the most frequent cause of congenital cardiac outflow abnormalities in humans, was analysed for mutations within all coding regions of the Vangl2 gene. Based on direct sequencing data from a combination of 20 patients with ToF and 22 healthy people, three polymorphisms have been identified in exon 6 and exon 7 which do not change the amino acid sequence. It was concluded, therefore, that there is no specific mutation responsible for the ToF phenotype in the Vangl2 gene.


Subject(s)
DNA Mutational Analysis , Intracellular Signaling Peptides and Proteins/genetics , Membrane Proteins/genetics , Tetralogy of Fallot/genetics , Animals , Base Sequence , Child, Preschool , Exons , Humans , Infant , Mice , Polymorphism, Genetic
SELECTION OF CITATIONS
SEARCH DETAIL
...