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158 results on '"Jain, Sangeeta"'

5. Expanded prenatal phenotype of ALG12‐associated congenital disorder of glycosylation including bilateral multicystic kidneys.

Author

Shanmugasundaram, Manjushree, Wang, Amanda, Morand, Megan, Bixler, Colin, Jain, Sangeeta, and Ray, Joseph

Abstract

Congenital disorders of glycosylation (CDG) are a group of rare autosomal recessive genetic disorders caused by pathogenic variants in genes coding for N‐glycosylated glycoproteins, which play a role in folding, degrading, and transport of glycoproteins in their pathway. ALG12‐CDG specifically is caused by biallelic pathogenic variants in ALG12. Currently reported features of ALG12‐CDG include: developmental delay, hypotonia, failure to thrive and/or short stature, brain anomalies, recurrent infections, hypogammaglobulinemia, coagulation abnormalities, and genitourinary abnormalities. In addition, skeletal abnormalities resembling a skeletal dysplasia including shortened long bones and talipes equinovarus have been seen in more severe neonatal presentation of this disorder. We report on a case expanding the phenotype of ALG12‐CDG to include bilateral, multicystic kidneys in a neonatal demise identified with homozygous pathogenic variants in the ALG12 gene at c.1001del (p.N334Tfs*15) through clinical trio exome sequencing. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Left-Handedness in Obstetrics and Gynecology: A Nationwide Survey of U.S. Trainees and Educators.

Author

Moutos, Christopher P., Arena Goncharov, Daphne D., Saad, Antonio F., Richardson, Gwyn, and Jain, Sangeeta

Subjects
HANDEDNESS, HOSPITAL medical staff, WORK, GYNECOLOGY, COLLEGE teacher attitudes, FISHER exact test, OBSTETRICS, SURVEYS, COMPARATIVE studies, EXPERIENCE, CHI-squared test, DESCRIPTIVE statistics, STUDENTS, EXPERIENTIAL learning, SOCIODEMOGRAPHIC factors, MEDICAL education
Abstract

Objective This study aimed to evaluate the views and influence of left-handedness among obstetrics and gynecology (OBGYN) trainees and educators and to identify perceived obstacles in training by left-handed (LH) trainees. Study Design An online survey was sent to the U.S. Obstetrics and Gynecology training programs. All participants were asked questions on hand preference for various medical and nonmedical activities, as well as on demographics. Participant responses to handedness and their role as a learner or educator directed them toward further questions. Trainees were surveyed on their experience and outlook as a LH physician in OBGYN. Educators were surveyed on their experience and attitudes in working with LH trainees. LH educators were also surveyed on their experience as a LH physician, similar to the LH trainees. Chi-square or Fisher's exact analysis was used as appropriate, with p -value <0.05 considered statistically significant. Results Responses were received from 21 training programs, totaling 304 individuals. Participants included 205 learners (156 right handed and 49 left handed), and 99 faculty (82 right handed and 17 left handed). A lack of LH surgical instrument availability (93.6%) and difficulty using right-handed (RH) instruments (83%) were notable obstacles reported by LH learners. The majority of LH learners (57.4%) did not consider their handedness to be disadvantageous but did note added difficulty when training under RH mentors when compared with training under LH mentors (66%). In contrast to LH educators, RH educators endorsed added difficulty in instructing operative procedures to LH learners (32.1 vs. 13.3%, p = 0.012). Conclusion LH trainees face unique challenges during their OBGYN training. Educators would benefit from guidance on how best to manage these trainees. Educators should work to adapt surgical and procedural techniques to accommodate LH trainees. Key Points LH learners reported more difficulty in training under RH mentors. RH mentors reported increased difficulty in educating LH trainees. Neither trainees nor educators considered being LH a significant disadvantage. [ABSTRACT FROM AUTHOR]

Published
2023
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33. Hepatitis C in Pregnancy

Author

Jain, Sangeeta, Goharkhay, Nima, Saade, George, Hankins, Gary D., and Anderson, Garland D.

Published
2007

38. EFFECT OF AGE, GENDER AND BODY MASS INDEX ON TIBIAL AND PERONEAL MOTOR NERVE CONDUCTION STUDY VARIABLES

Author

Krushan Yajnik, Balaji W Ghugare, Dinkar, Mukesh, Jain, Sangeeta, and Himanshu Chauhan

Subjects
Nerve conduction study, Body mass index, electromyography
Abstract

Introduction: Different variables of Nerve Conduction Study (NCS) show changes to different extent in various pathological states. However, certain physiological factors may affect them too. Aims and objectives: This cross sectional study aimed to evaluate the role of age, gender and BMI upon these variables in the tibial and peroneal nerves. Materials and methods: 51 healthy subjects were chosen according to exclusion and inclusion criteria. Reference limits were derived from the obtained data as Mean±2SD. pResults: No sex-wise correlation was seen with the NCS Parameters of Tibial and Peroneal Nerves, whereas age showed deteriorating correlation (p value

Published
2017
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