scholarly journals Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub‐Saharan Africa

2014 ◽  
Vol 2 (3) ◽  
pp. 254-260 ◽  
Author(s):  
Azeez Butali ◽  
Peter A. Mossey ◽  
Wasiu L. Adeyemo ◽  
Mekonen A. Eshete ◽  
LauRen A. Gaines ◽  
...  
Keyword(s):  
Sub Saharan Africa ◽  
Van Der Woude Syndrome ◽  
Popliteal Pterygium Syndrome ◽  
Sub Saharan ◽  
Popliteal Pterygium

Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling

2009 ◽  
Vol 18 (4) ◽  
pp. 225-227 ◽  
Author(s):  
Arjan C. Houweling ◽  
Johan J.P. Gille ◽  
Jacques A. Baart ◽  
Johanna M. van Hagen ◽  
Augusta M. Lachmeijer
Keyword(s):  
Genetic Counseling ◽  
Van Der Woude Syndrome ◽  
Phenotypic Manifestation ◽  
Popliteal Pterygium Syndrome ◽  
Popliteal Pterygium

scholarly journals Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases

2012 ◽  
Vol 15 (5) ◽  
pp. 338-344 ◽  
Author(s):  
Elizabeth J. Leslie ◽  
Jennifer Standley ◽  
John Compton ◽  
Sherri Bale ◽  
Brian C. Schutte ◽  
...  
Keyword(s):  
Comparative Analysis ◽  
Van Der Woude Syndrome ◽  
Whole Exome ◽  
Popliteal Pterygium Syndrome ◽  
Popliteal Pterygium

scholarly journals Rare presentation of Van der Woude syndrome in a mother and child: A case report from Sub-Saharan Africa

2017 ◽  
Vol 4 (1) ◽  
pp. 55
Author(s):  
RamatOyebunmi Braimah ◽  
AbdurrazaqOlanrewaju Taiwo ◽  
AdebayoAremu Ibikunle ◽  
AmiduOmotayo Sulaiman
Keyword(s):  
Case Report ◽  
Sub Saharan Africa ◽  
Van Der Woude Syndrome ◽  
Rare Presentation ◽  
Mother And Child ◽  
Sub Saharan

scholarly journals Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature

2019 ◽  
Vol 12 (9) ◽  
pp. e229938 ◽  
Author(s):  
Dilharan D Eliezer ◽  
Himanshu Goel ◽  
Virginia M Turner ◽  
Aniruddh Deshpande
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Treatment Options ◽  
Testicular Descent ◽  
Van Der Woude Syndrome ◽  
Phenotypic Feature ◽  
Midline Defects ◽  
Popliteal Pterygium Syndrome ◽  
Testicular Thermoregulation ◽  
Popliteal Pterygium

Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) spectrum are due to genetic variants in the IRF6 which phenotypically has been known to manifest with midline defects such as cleft lip and palate in VWS and additional nail, limb and genital anomalies in PPS. We report a case of VWS with the previously unrecognised phenotypic feature of hemiscrotal agenesis. While bifid scrotum has been reported in the more severe PPS, neither VWS nor PPS have previously noted hemiscrotal agenesis as part of the phenotypic picture. Hemiscrotal agenesis without evidence of any genetic anomaly has only been reported four times in the literature to date with two of these being accompanied by complete testicular descent. Treatment options include topical androgen application and/or scrotoplasty to allow for adequate testicular thermoregulation and development to occur.

RTS,S/AS01, a vaccine targeting pre-erythrocytic stages of Plasmodium falciparum

2017 ◽  
Vol 1 (6) ◽  
pp. 533-537
Author(s):  
Lorenz von Seidlein ◽  
Borimas Hanboonkunupakarn ◽  
Podjanee Jittmala ◽  
Sasithon Pukrittayakamee
Keyword(s):  
Protective Efficacy ◽  
Age Groups ◽  
Sub Saharan Africa ◽  
Phase Iii ◽  
European Medicines Agency ◽  
Older Children ◽  
Pivotal Phase ◽  
Malaria Epidemiology ◽  
Maximum Benefit ◽  
Sub Saharan

RTS,S/AS01 is the most advanced vaccine to prevent malaria. It is safe and moderately effective. A large pivotal phase III trial in over 15 000 young children in sub-Saharan Africa completed in 2014 showed that the vaccine could protect around one-third of children (aged 5–17 months) and one-fourth of infants (aged 6–12 weeks) from uncomplicated falciparum malaria. The European Medicines Agency approved licensing and programmatic roll-out of the RTSS vaccine in malaria endemic countries in sub-Saharan Africa. WHO is planning further studies in a large Malaria Vaccine Implementation Programme, in more than 400 000 young African children. With the changing malaria epidemiology in Africa resulting in older children at risk, alternative modes of employment are under evaluation, for example the use of RTS,S/AS01 in older children as part of seasonal malaria prophylaxis. Another strategy is combining mass drug administrations with mass vaccine campaigns for all age groups in regional malaria elimination campaigns. A phase II trial is ongoing to evaluate the safety and immunogenicity of the RTSS in combination with antimalarial drugs in Thailand. Such novel approaches aim to extract the maximum benefit from the well-documented, short-lasting protective efficacy of RTS,S/AS01.

Mortality and Society in Sub-Saharan Africa

1993 ◽  
Vol 47 (3) ◽  
pp. 555-556
Author(s):  
Lado Ruzicka
Keyword(s):  
Sub Saharan Africa ◽  
Sub Saharan
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