scholarly journals Prophylactic treatment dens invaginatus (type 1): An uncommon presentation

2016 ◽  
Vol 8 (10) ◽  
pp. 66-70
Author(s):  
O. Marouane ◽  
S. Zouiten ◽  
A. Boughzala
Keyword(s):  
Prophylactic Treatment ◽  
Uncommon Presentation ◽  
Dens Invaginatus

Mosaic Neurofibromatosis Type 1 in Children: A Single-Institution Experience

2017 ◽  
Vol 21 (5) ◽  
pp. 379-382 ◽  
Author(s):  
Irene Lara-Corrales ◽  
Mitra Moazzami ◽  
Maria Teresa García-Romero ◽  
Elena Pope ◽  
Patricia Parkin ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Cross Sectional Study ◽  
Clinical Findings ◽  
Loss Of Function ◽  
Cross Sectional ◽  
Uncommon Presentation ◽  
Sick Children

Background: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene. Segmental or mosaic NF1 (MNF) is an uncommon presentation of the NF1 result of postzygotic mutations that present with subtle localised clinical findings. Objectives: Our study’s objectives were to describe the clinical characteristics of children with MNF. Methods: We conducted a cross-sectional study of children diagnosed with MNF at the Hospital for Sick Children in Toronto, Canada, from January 1992 to September 2012. Data were abstracted from health records and analysed using a standardised data collection form approved by our hospital Research Ethics Board. Results: We identified 60 patients with MNF; 32 of 60 (53.3%) were female. Mean ± SD age at first assessment was 10.6 ± 4.6 years. The most common initial physical manifestation in 39 of 60 (65.0%) patients was localised pigmentary changes only, followed by plexiform neurofibromas only in 10 of 60 (16.7%) and neurofibromas only in 9 of 60 (15.0%). Unilateral findings were seen in 46 of 60 (76.7%) patients. Most common associations identified included learning disabilities (7/60; 12%) and bony abnormalities (6/60; 10.0%). Conclusions: MNF is an underrecognised condition with potential implications for patients. Children mostly present with pigmentary anomalies only. Most patients do not develop associated findings or complications before adulthood, but long-term follow-up will help determine outcomes and possible associations. Recognition and confirmation of the diagnosis is important to provide follow-up and genetic counselling to patients.

A Novel Combination of dens evaginatus and dens invaginatus in a Single Tooth – Review of the Literature and a Case Report

2008 ◽  
Vol 32 (3) ◽  
pp. 239-242 ◽  
Author(s):  
Robert Anthonappa ◽  
Cynthia Yiu ◽  
Nigel King
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Prophylactic Treatment ◽  
Lateral Incisor ◽  
Review Of The Literature ◽  
Dental Anomalies ◽  
Incisor Tooth ◽  
Single Tooth ◽  
Dens Invaginatus

Dens evaginatus (DE) and dens invaginatus (DI) are rare developmental dental anomalies affecting both the primary and permanent dentitions. Concurrence of DE and DI within the same tooth is extremely rare. We report a case of DE and DI in a maxillary right lateral incisor tooth. Comprehensive clinical and radiographic examinations are essential to identify such defects; the early diagnosis can then result in the appropriate prophylactic treatment being performed, thus preventing undesirable pulpal complications.

scholarly journals Clinical Study to Investigate the Efficacy and Safety of Wilate during Prophylaxis in Previously Treated Patients with Von Willebrand Disease (VWD)

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 4931-4931
Author(s):  
Robert F. Sidonio ◽  
Bruce A. Schwartz
Keyword(s):  
Board Of Directors ◽  
Research Funding ◽  
Prophylactic Treatment ◽  
Von Willebrand Disease ◽  
Advisory Committees ◽  
Previously Treated Patients ◽  
Previously Treated ◽  
Type 3 ◽  
Von Willebrand

Background: Inherited von Willebrand disease (VWD) is the most common inherited hemorrhagic disorder, with an estimated prevalence of 1 in every 100 individuals. Type 1 and type 3 (the most severe form) are characterized by a quantitative deficiency of von Willebrand factor (VWF) and type 2 arises from a qualitative deficiency of VWF. Treatment of VWD depends on the type and severity of the disease. Severe bleeding is reported in patients with all subtypes, leading to progressive joint disease as well as diminished quality of life (QoL). VWF/factor VIII (FVIII) concentrates have become the mainstay of VWD treatment for these patients with severe disease or for those patients in whom other treatments (e.g., desmopressin) are ineffective or contraindicated but this is broadly applicable only for on demand treatment. Aims: The primary objective of this study is to determine the efficacy of VWF/FVIIII concentrate in the prophylactic treatment of previously treated patients with type 3, type 2 (except 2N), or severe type 1 VWD. Secondary objectives of this study will be to collect data to 1) Assess the VWF:Ac and VWF:Ag incremental IVR of VWF/FVIIII concentrate over time and, 2) Assess the safety and tolerability of VWF/FVIIII concentrate in this indication. The study will also examine, the efficacy of VWF/FVIIII concentratein the treatment of breakthrough bleeding episodes (BEs), and in surgical prophylaxis, as well as the QoL during prophylaxis with VWF/FVIIII concentrate. Methods: The study is planned to enroll 28 patients aged ≥6 years and with VWD type 1, 2A, 2B, 2M, or 3. Eligible patients must be receiving on-demand treatment with a VWF-containing product, with at least 1, and an average of ≥2, documented spontaneous BEs per month in the preceding 6 months requiring treatment with a VWF-containing product. This will be assessed as part of a run-in observational study to collect the bleeding profile prior to the start of prophylaxis. From the beginning of the study, patients will receive prophylactic treatment with VWF/FVIIII concentrate for 12 months and record all BEs in a patient diary. Based on these data, the frequency of BEs and the annualized bleeding rate (ABR) under prophylactic treatment will be calculated. Treatment efficacy of BEs will be assessed by the patient (together with the investigator in case of on-site treatment) using a 4-point scale (excellent, good, moderate, none) In patients that undergo surgeries, efficacy of VWF/FVIIII concentratewill be assessed at the end of surgery by the surgeon and at the end of the postoperative period by the haematologist. In both cases, predefined assessment criteria will be used. In addition, an overall assessment of efficacy will be made at the end of the postoperative period by the investigator. Results: Data will be monitored on an ongoing basis and the study is expected to end Q2 2021. Conclusions: Prophylactic treatment in other congenital bleeding disorders is widely accepted as the standard of care to prevent bleeding and preserve QoL in patients but to date, this form of treatment in VWD is not well characterized. This study will provide data on the efficacy of prophylactic treatment in reducing the rate of bleeding and on the impact of prophylaxis on the QoL in VWD patients. Disclosures Sidonio: Genetech: Membership on an entity's Board of Directors or advisory committees, Research Funding; Takeda-Shire: Membership on an entity's Board of Directors or advisory committees, Research Funding; Biomarin: Membership on an entity's Board of Directors or advisory committees; Octapharma: Membership on an entity's Board of Directors or advisory committees, Research Funding; Bioverativ: Membership on an entity's Board of Directors or advisory committees, Research Funding; Novo Nordisk: Membership on an entity's Board of Directors or advisory committees; Grifols: Membership on an entity's Board of Directors or advisory committees, Research Funding; Kedrion: Research Funding; Uniqure: Membership on an entity's Board of Directors or advisory committees. Schwartz:Octapharma: Employment.

scholarly journals Flexible RSV Prefusogenic Fusion Glycoprotein Exposes Multiple Neutralizing Epitopes that May Collectively Contribute to Protective Immunity

Vaccines ◽  
2020 ◽  
Vol 8 (4) ◽  
pp. 607
Author(s):  
Nita Patel ◽  
Jing-Hui Tian ◽  
Rhonda Flores ◽  
Kelsey Jacobson ◽  
Michelle Walker ◽  
...  
Keyword(s):  
Protective Immunity ◽  
Prophylactic Treatment ◽  
Quaternary Structure ◽  
Vaccine Development ◽  
High Titer ◽  
Treatment Options ◽  
Fusion Glycoprotein ◽  
Syncytial Virus ◽  
Neutralizing Epitopes

Human respiratory syncytial virus (RSV) is a cause of lower respiratory tract infection in infants, young children, and older adults. There is no licensed vaccine and prophylactic treatment options are limited. The RSV fusion (F) glycoprotein is a target of host immunity and thus a focus for vaccine development. F-trimers are metastable and undergo significant rearrangements from the prefusion to a stable postfusion structure with neutralizing epitopes on intermediate structures. We hypothesize that vaccine strategies that recapitulate the breathable F quaternary structure, and provide accessibility of B-cells to epitopes on intermediate conformations, may collectively contribute to protective immunity, while rigid prefusion F structures restrict access to key protective epitopes. To test this hypothesis, we used the near full-length prefusogenic F as a backbone to construct three prefusion F variants with substitutions in the hydrophobic head cavity: (1) disulfide bond mutant (DS), (2) space filling hydrophobic amino acid substitutions (Cav1), and (3) DS, Cav1 double mutant (DS-Cav1). In this study, we compared the immunogenicity of prefusogenic F to prefusion F variants in two animal models. Native prefusogenic F was significantly more immunogenic, producing high titer antibodies to prefusogenic, prefusion, and postfusion F structures, while animals immunized with DS or DS-Cav1 produced antibodies to prefusion F. Importantly, prefusogenic F elicited antibodies that target neutralizing epitopes including prefusion-specific site zero (Ø) and V and conformation-independent neutralizing sites II and IV. Immunization with DS or DS-Cav1 elicited antibodies primarily to prefusion-specific sites Ø and V with little or no antibodies to other key neutralizing sites. Animals immunized with prefusogenic F also had significantly higher levels of antibodies that cross-neutralized RSV A and B subtypes, while immunization with DS or DS-Cav1 produced antibodies primarily to the A subtype. We conclude that breathable trimeric vaccines that closely mimic the native F-structure, and incorporate strategies for B-cell accessibility to protective epitopes, are important considerations for vaccine design. F structures locked in a single conformation restrict access to neutralizing epitopes that may collectively contribute to destabilizing F-trimers important for broad protection. These results also have implications for vaccine strategies targeting other type 1 integral membrane proteins.

scholarly journals Uncommon presentation of asymmetrical retinopathy in diabetes type 1

2004 ◽  
Vol 82 (3p1) ◽  
pp. 321-323 ◽  
Author(s):  
Ansu Basu ◽  
Helen Palmer ◽  
Robert E. G. Ryder ◽  
Kenneth G. Taylor
Keyword(s):  
Diabetes Type ◽  
Diabetes Type 1 ◽  
Uncommon Presentation

scholarly journals Primary Herpes Simplex viral infection of bilateral nipples and areolae with reactive arthritis: An uncommon presentation of a common disease

2021 ◽  
Vol 2 (5) ◽  
Author(s):  
Thanushah B ◽  
◽  
Thamilvannan N ◽  
Ahilen M ◽  
Ahilan S ◽  
...  
Keyword(s):  
Herpes Simplex ◽  
Infectious Diseases ◽  
Reactive Arthritis ◽  
Double Standard ◽  
Common Disease ◽  
Dna Viruses ◽  
Herpes Simplex Viruses ◽  
Uncommon Presentation

Herpes Simplex Viruses (HSV) are members of the Herpesvirales, subfamily Alphaherpesvirinae. They are linear double standard DNA viruses. Skin manifestations caused by HSV is one of the commonest cutaneous infectious diseases encountered during dermatology practice. It affects most people on one or more occasions during their lives. Cutaneous presentations are characterized by painful localized grouped vesicles. Type 1 HSV is mainly associated with orofacial involvement. Type 2 HSV is mainly associated with anorectal involvement. However, HSV infection can occur almost any area of skin or mucous membrane.

scholarly journals Crusted (Norwegian) Scabies and HTLV-1 Infection Association: A Case Report

2021 ◽  
Vol 6 (03) ◽  
pp. 184-187
Author(s):  
Bernardo Times de Carvalho ◽  
Arthur Arcoverde Perrier ◽  
Patricia Maria Mirelle de Macedo e Silva ◽  
Joao Roberto Cabral da Silva
Keyword(s):  
Case Report ◽  
Chronic Infection ◽  
Skin Lesions ◽  
Carrier Status ◽  
T Lymphotropic Virus ◽  
Uncommon Presentation ◽  
Cutaneous Form ◽  
Chronic Skin ◽  
Crusted Scabies

Crusted scabies, formerly known as Norwegian scabies is as uncommon presentation of scabies that may occur in the in association with an immunosuppressive status. The article aims to present a case report in which a male patient with HTLV-1 carrier status admitted for investigation of eczematous and crusted chronic skin lesions and submitted to a dermatologic evaluation and a skin biopsy considering the hypothesis of a cutaneous form of lymphoma associated with HTLV-1 infection had the diagnosis of Crusted scabies instead. There is data regarding de association of crusted scabies and Human T-lymphotropic virus type 1 (HTLV-1) chronic infection. Therefore, this important diagnosis should always be accessed specially in HTLV-1 endemic regions.

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