RESUMEN
Neu-Laxova's syndrome (NLS) is a rare group of congenital malformations comprising intrauterine growth retardation (IUGR), central nervous system malformations, microcephaly, facial anomalies, ichthyosis, generalized edema, limb abnormalities, polyhydramnios, and perinatal death. We hereby report a fetus at 25 weeks' gestation with IUGR, facial and limb anomalies, and smooth brain detected on antenatal ultrasound and magnetic resonance imaging of fetus and confirmed by autopsy. Next-generation sequencing analysis identified a novel homozygous missense mutation in PHGDH gene. Only 35 cases of NLS with genetic etiology have been reported. This is the first case report of mutation in PHGDH from India.
RESUMEN
Two types of mayonnaise viz. eggless and egg based were prepared by substituting refined soybean oil by tomato seed oil (TSO) at varying concentrations (0-30%). Aim of the study was to utilise the potential of TSO in replaced of refined oil. With respect to oil particle distribution pattern in both types of mayonnaise, higher specific surface area (Dmean ~ 11.49 µm) and homogenous distribution of oil droplets was noted in egg-based mayonnaise. Rheological behavior depicted shear thinning properties in all types of mayonnaise with low viscosity (1.08 Pa s and 2.29 Pa s) being exhibited by tomato seed oil (TSO) incorporated mayonnaise. Nutritionally, significant increase of 65.5 and 26% in lycopene content while 29 and 34% increase in carotenoid content was noted upon incorporation of TSO in eggless and egg-based mayonnaise. Good storage and oxidative stability were demonstrated by TSO egg-based and eggless mayonnaise in terms of acid value and free fatty acids, also the peroxide value was also found lower than their respective control at the end of storage. Overall, tomato seed oil could be used as a non-conventional source of oil for such food applications owing to its close proximity with other vegetable oils and better nutritional profile like dominance of linoleic fatty acid i.e., 54.23% assayed via gas chromatography. Supplementary Information: The online version contains supplementary material available at 10.1007/s13197-023-05771-7.
RESUMEN
We report a rare case of isolated congenital absence of the bilateral femur diagnosed antenatally in an 18-19 weeks fetus on a level II scan. The bilateral femur bones were not visualized with normal bilateral tibia and fibula. The fetus was followed with a routine growth scan at 32-33 weeks along with a fetal MRI, which showed similar findings. The antenatal findings were confirmed clinically as well as with a postnatal follow-up X-Ray (infantogram) of the baby. Trio whole-exome sequencing was performed for the child as well as both the parents, which did not reveal any clinically significant variant that could explain the patient's phenotype.
RESUMEN
OBJECTIVE: The coronavirus-2019 (COVID-19) pandemic caused delaying breast cancer management, increasing time interval in chemotherapy cycles and surgery. This has implications on radiological manifestation of cancer. Further, we evaluated changes observed in mammography. MATERIALS AND METHODS: This case control study was conducted from March 25th, 2020 to August 15th, 2020 at the Integrated Breast Care Centre, All India Institute of Medical Science Rishikesh (AIIMS), Rishikesh. Sonomammography was performed on follow-up patients who were on chemotherapy and were scheduled for surgery. Moreover, duration of delay from the last neoadjuvant chemotherapy (NACT) cycle was recorded. Similar data in the pre-COVID-19 period from November 4th, 2019 to March 24th, 2020 was compared with post-COVID-19 data and was analyzed by SPSS Version 23. RESULTS: The study included 54 patients who presented between March 25th, 2020 and August 15th, 2020. Furthermore, the delay in NACT cycles has been shown to be associated with disease progression (p = 0.045). Subgroup analysis of treatment duration with various parameters revealed significant correlation between size, appearance of ulceration, and response evaluation (p<0.05). However, no significant association was found between duration of delay and the histological subtype of lesion (p>0.05). A substantial difference was seen in the evaluation of NACT response in pre- and post-COVID-19 time, with partial response (n = 39, 58.24%) seen as the most common response in pre-COVID-19 time and progressive disease (n = 28, 51.9%) as the most common response in post-COVID-19 time (p<0.001). CONCLUSION: The coronavirus pandemic has severe impact on breast cancer management. A delay in NACT causes progression in cancer. This can be seen in ultrasound and mammogram.