3 research outputs found
Ultrasound Transducer Design for Continuous Fetal Heartbeat Monitoring
Stillbirth prevention requires high quality healthcare and early detection. Continuous monitoring of fetal heartbeat can be one of the ways to reduce pregnancy complications and even stillbirths. A Doppler ultrasound transducer is found to be one of the possible devices that can be adopted for home long-term monitoring of the fetal heartbeat. The velocity of the heart phantom was obtained from the time shifts between the consecutive received signals. It was possible to measure the heart velocity if the heart position is changed from the central lobe of the transducer beam in x -direction. However, the measurements are not accurate if the radius of the transducer aperture is decreased to 2 mm. The measured velocity of the heart phantom is in a good agreement with the actual velocity if heart is moved in z -direction. However, the received RF signals from the back heart wall are much weaker as compared to the received signals for the front heart wall.
The proposed idea to have a continuous fetal heartbeat monitoring is found to be one of the solutions to reduce number of stillbirths. Doppler transducer shows improved robustness with decreased size of the aperture which lead to a wider beam profile and better detectability of the heart movements
Infant onset systemic lupus erythematosus presenting as nephrotic syndrome
Background: Membranous nephropathy (MGN) is one of the most common glomerular disease seen among adults. However, it is a rare histological presentation in pediatric population. In contrast to MGN in adults where primary form is known to be the leading subtype of the disease, secondary cause is more prevailing in children. Case Presentation: We describe a case of an infant presenting with nephrotic syndrome (NS) and negative serology work-up. Kidney biopsy showed the picture of severe diffuse MGN confirmed by light, immunofluorescence and electron microscopy studies. "Full-house" pattern by immunofluorescence, numerous well-demarcated sub-epithelial deposits and tubuloreticular inclusions strongly suggested type V lupus nephritis. Conclusions: NS due to MGN is rarely seen in infancy. Secondary causes such as autoimmune disease or systemic infection need to be considered for appropriate management
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS in 17 families with partially treatment-sensitive NS (pTSNS). These proteins interact and we delineate their roles in Rho-like small GTPase (RLSG) activity, and demonstrate deficiency for mutants of pTSNS patients. We find that CDK20 regulates DLC1. Knockdown of MAGI2, DLC1, or CDK20 in cultured podocytes reduces migration rate. Treatment with dexamethasone abolishes RhoA activation by knockdown of DLC1 or CDK20 indicating that steroid treatment in patients with pTSNS and mutations in these genes is mediated by this RLSG module. Furthermore, we discover ITSN1 and ITSN2 as podocytic guanine nucleotide exchange factors for Cdc42. We generate Itsn2-L knockout mice that recapitulate the mild NS phenotype. We, thus, define a functional network of RhoA regulation, thereby revealing potential therapeutic targets