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Author(s):  
Omoloro Adeleke ◽  
Farrukh Gill ◽  
Ramesh Krishnan

The Limb Body Wall Complex (LBWC) aka. Body Stalk Syndrome is an uncommon congenital disorder characterized by severe malformations of limb, thorax, and abdomen, characterized by the presence of thoracoschisis, abdominoschisis, limb defects, and exencephaly. This condition is extremely rare with an incidence of 1 per 14,000 and 1 per 31,000 pregnancies in large epidemiologic studies. Majority of these malformed fetuses end up with spontaneous abortions. We present this rare case with occurrence in a preterm infant of 35 weeks gestation. Our report highlights majority of the clinical presentations as reported in previous literature, but the significant pathological findings of absent genitalia and malformed genitourinary, anorectal malformations make this case presentation an even more rare occurrence. Infant karyotyping was normal male and there is no specific underlying genetic correlation in this condition which has fatal prognosis.


Author(s):  
Pradeep Pradhan ◽  
Pritinanda Mishra ◽  
Vinusree Karakkandy
Keyword(s):  

2022 ◽  
Vol 8 ◽  
Author(s):  
Bipin P. Kulkarni ◽  
Kirti Ghargi ◽  
Chandrakala Shanmukhaiah ◽  
Shrimati D. Shetty

Introduction: Type 3 Von Willebrand Disease (VWD) is the least common but the most severe form of a disease, with a prevalence of about 0. 5 to 1 per million in Western countries. The prevalence of type 3 VWD in the developing countries, with a high degree of consanguinity, is about 6 per million. Moreover, due to underdiagnosis of the milder cases, the prevalence of type 3 VWD is about 50% of the cases. Rarely, some patients develop the Von Willebrand Factor (VWF) inhibitors, which may subsequently develop severe anaphylactic reactions on further exposure to the VWF containing factor replacement therapy. The prevalence of inhibitor development in patients with type 3 VWD has been shown to be in the range of 5.8 to 9.5%. In the absence of a gold standard assay for the quantitation of VWF inhibitors, a correct diagnosis and management of these patients are often challenging.Objectives: The objective of this study is to standardize the Bethesda assay for the VWF inhibitors and to estimate the VWD inhibitor titer in two cases of congenital type 3 VWD, which developed the VWF inhibitors.Results and Conclusions: We could successfully standardize the Bethesda assay for the quantitation of VWF inhibitors in two patients with congenital type 3 VWD with inhibitors.


2022 ◽  
Vol 29 (1) ◽  
Author(s):  
Stefanus Cahyo Ariwicaksono ◽  
Hendy Mirza

Objective: This study aims to show our first case of female with periurethral condyloma and how we managed it. Case(s) Presentation: A 40-year-old female came with asymptomatic lesion in the genital area for 4 months, without any history of promiscuity. The physical examination showed a mass of 5 x 5 cm located in the periurethral area. The patient underwent mass excisions without any complication, further pathological examination confirmed the diagnosis of CA. Discussion: After operation and discharge there are no sign of recurrence after 6 months follow up. Conclusion: Despite the rare occurrence in periurethral region, clinicians should be aware of CA case in female and for our first case we used mass excision with satisfactory result.


2022 ◽  
Vol 23 (1) ◽  
pp. 83
Author(s):  
Archana Singal ◽  
Sheetal Yadav
Keyword(s):  

2022 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
Batuk Diyora ◽  
Gagan Dhall ◽  
Mehool Patel ◽  
Kavin Devani ◽  
Rahul Chhajed ◽  
...  
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