Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin

1999 ◽  
Vol 105 (1-2) ◽  
pp. 168-170 ◽  
Author(s):  
V. Berry ◽  
D. Mackay ◽  
S. Khaliq ◽  
P.J. Francis ◽  
A. Hameed ◽  
...  
Keyword(s):  
Pakistani Origin ◽  
Connexin 50

Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin

1999 ◽  
Vol 105 (1-2) ◽  
pp. 168-170 ◽  
Author(s):  
Vanita Berry ◽  
Donna Mackay ◽  
Shagufta Khaliq ◽  
Peter J. Francis ◽  
Abdul Hameed ◽  
...  
Keyword(s):  
Pakistani Origin ◽  
Connexin 50

A novel splice site mutation in gene C2orf37 underlying Woodhouse–Sakati syndrome (WSS) in a consanguineous family of Pakistani origin

Gene ◽  
2011 ◽  
Vol 490 (1-2) ◽  
pp. 26-31 ◽  
Author(s):  
Rabia Habib ◽  
Sulman Basit ◽  
Saadullah Khan ◽  
Muhammad Nasim Khan ◽  
Wasim Ahmad
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Consanguineous Family ◽  
Site Mutation ◽  
Pakistani Origin

scholarly journals Skeletal Manifestations of Scurvy: A Case Report from Dubai

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Shahryar Noordin ◽  
Naveed Baloch ◽  
Muhammad Sohail Salat ◽  
Abdul Rashid Memon ◽  
Tashfeen Ahmad
Keyword(s):  
Dietary Habits ◽  
Bone Age ◽  
Developed Countries ◽  
Nutritional Deficiencies ◽  
X Rays ◽  
Dietary History ◽  
Ankle Joints ◽  
Pakistani Origin ◽  
Zone Of Provisional Calcification ◽  
High Index Of Suspicion

Introduction. Nutritional deficiencies are rarely reported in developed countries. We report a child of Pakistani origin brought up in Dubai who developed skeletal manifestations of scurvy due to peculiar dietary habits.Case Presentation. A 4.5 year old boy presented with pain and swelling of multiple joints for three months and inability to walk for two months. Dietary history was significant for exclusive meat intake for the preceding two years. On examination the child’s height and weight were below the 5th percentile for his age. He was pale and tachycardic. There was significant swelling and tenderness over the wrist, knee and ankle joints, along with painful restriction of motion. Basic blood workup was unremarkable except for anemia. However, X-rays showed delayed bone age, severe osteopenia of the long bones, epiphyseal separation, cortical thinning and dense zone of provisional calcification, suggesting a radiological diagnosis of scurvy. The child was started on vitamin C replacement therapy. Over the following two months, the pain and swelling substantially reduced and the child became able to walk. Repeat X-rays showed improvement in the bony abnormalities.Conclusion. Although scurvy is not a very commonly encountered entity in the modern era, inappropriate dietary intake can lead to skeletal abnormalities which may be confused with rickets. A high index of suspicion is thus required for prompt diagnosis of scurvy in patients with bone and joint symptoms.

scholarly journals Connexin 50 and AQP0 are Essential in Maintaining Organization and Integrity of Lens Fibers

2019 ◽  
Vol 60 (12) ◽  
pp. 4021 ◽  
Author(s):  
Sumin Gu ◽  
Sondip Biswas ◽  
Luis Rodriguez ◽  
Zhen Li ◽  
Yuting Li ◽  
...  
Keyword(s):  
Lens Fibers ◽  
Connexin 50

scholarly journals Vitamin D-fortified foods improve wintertime vitamin D status in women of Danish and Pakistani origin living in Denmark: a randomized controlled trial

2019 ◽  
Vol 59 (2) ◽  
pp. 741-753 ◽  
Author(s):  
Ida M. Grønborg ◽  
Inge Tetens ◽  
Tue Christensen ◽  
Elisabeth W. Andersen ◽  
Jette Jakobsen ◽  
...  
Keyword(s):  
Vitamin D ◽  
Randomized Controlled Trial ◽  
Controlled Trial ◽  
Vitamin D Status ◽  
Fortified Foods ◽  
Randomized Controlled ◽  
Pakistani Origin

scholarly journals Connexin 50 Functions as an Adhesive Molecule and Promotes Lens Cell Differentiation

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Zhengping Hu ◽  
Wen Shi ◽  
Manuel A. Riquelme ◽  
Qian Shi ◽  
Sondip Biswas ◽  
...  
Keyword(s):  
Cell Differentiation ◽  
Adhesive Molecule ◽  
Lens Cell ◽  
Connexin 50
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