IQSEC2 Deficiency Results in Abnormal Social Behaviors Relevant to Autism by Affecting Functions of Neural Circuits in the Medial Prefrontal Cortex（IQSEC2の欠損は内側前頭前皮質の神経回路機能に影響を与え自閉症に関連した社会行動の異常をきたす）

信州大学(Shinshu university)博士（医学）次の雑誌に発表。 /Cells 10(10) :2724(2021); doi:10.3390/cells10102724 © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).ThesisMEHTA ANURADHA. IQSEC2 Deficiency Results in Abnormal Social Behaviors Relevant to Autism by Affecting Functions of Neural Circuits in the Medial Prefrontal Cortex（IQSEC2の欠損は内側前頭前皮質の神経回路機能に影響を与え自閉症に関連した社会行動の異常をきたす）. 信州大学, 2023, 博士論文. 博士（医学）, 甲第1316号, 令和05年03月31日授与.doctoral thesi

Maternal and perinatal outcomes in pregnancy associated with placenta previa

Background: Placenta previa is associated with increased maternal and perinatal complications like malpresentation, premature labor, higher rates of caesarean section, peripartum hysterectomies, postpartum hemorrhage, sepsis, shock and retained placenta and even death. Antepartum haemorrhage may frequently result in low birth weight babies, preterm labour or repeated small events of haemorrhage causing chronic placental insufficiency and foetal growth retardation or intrauterine fetal death.Methods: This was a prospective study conducted in the department of obstetrics and gynaecology, SMGS, hospital, Jammu over a period of 1 year. All admitted cases of placenta previa were included in the study.Results: The total numbers of deliveries in one our hospital were 18567 during the study period. 364 patients admitted with antepartum heamorrhage so the incidence of APH in our hospital was 1.96%. 157 cases out of 346 were of placenta previa. It was observed that placenta previa cases were highest in the maternal age group of 26-30 yrs, i.e. 55.42%, 71.97% were multigravidae and 26.75% with prior caesarean section. 15.92% had undergone peripartum hysterectomy due to massive PPH. The percentage of perinatal death was 18.23% and the main cause was prematurity.Conclusions: Based upon observation made during this study, it is concluded that placenta previa is a serious condition with significant maternal and perinatal morbidity and mortality. Improvements in management of placenta previa have helped in improving neonatal survival and reduce maternal morbidity and mortality

Two novel mutations with 17 hydroxylase deficiency – Alpha and beta presenting as 46XY disorders of sexual development

17 alpha-hydroxylase and 17 beta-hydroxylase deficiency are rare causes of 46XY disorders of sexual development. The gene for 17 alpha-hydroxylase enzyme (CYP17A1) is located at 10q24.3 and for 17 beta-hydroxylase is (17βHSD3) on 9q22. CYP17A1 can present with delayed puberty and hyporeninemic, hypokalemic hypertension. In 17βHSD3 deficiency, a biochemical pointer to diagnosis includes a stimulated ratio of testosterone (T) to androstenedione (A) of <0.8. We report two cases, one with 17βHSD3 defect in infancy with atypical genitalia and second with CYP17A1 which presented in childhood with novel mutations. There is a wide spectrum of phenotypic presentations of these disorders. Genetic analysis gives confirmation

Oxalate decarboxylase from Collybia velutipes: molecular cloning and its overexpression to confer resistance to fungal infection in transgenic tobacco and tomato

Oxalic acid is present as nutritional stress in many crop plants like Amaranth and Lathyrus. Oxalic acid has also been found to be involved in the attacking mechanism of several phytopathogenic fungi. A full-length cDNA for oxalate decarboxylase, an oxalate-catabolizing enzyme, was isolated by using 5'-rapid amplification of cDNA ends-polymerase chain reaction of a partial cDNA as cloned earlier from our laboratory (Mehta, A., and Datta, A. (1991) J. Biol. Chem. 266, 23548-23553). By screening a genomic library from Collybia velutipes with this cDNA as a probe, a genomic clone has been isolated. Sequence analyses and comparison of the genomic sequence with the cDNA sequence revealed that the cDNA is interrupted with 17 small introns. The cDNA has been successfully expressed in cytosol and vacuole of transgenic tobacco and tomato plants. The transgenic plants show normal phenotype, and the transferred trait is stably inherited to the next generation. The recombinant enzyme is partially glycosylated and shows oxalate decarboxylase activity in vitro as well as in vivo. Transgenic tobacco and tomato plants expressing oxalate decarboxylase show remarkable resistance to phytopathogenic fungus Sclerotinia sclerotiorum that utilizes oxalic acid during infestation. The result presented in the paper represents a novel approach to develop transgenic plants resistant to fungal infection

Inhibition of CASK Expression by Virus-mediated RNA Interference in Medial Prefrontal Cortex Affects Social Behavior in the Adult Mouse

Article信州医学雑誌 69(1): 45-52(2021)journal articl

The population of merging compact binaries inferred using gravitational waves through GWTC-3

We report on the population properties of 76 compact binary mergers detected with gravitational waves below a false alarm rate of 1 per year through GWTC-3. The catalog contains three classes of binary mergers: BBH, BNS, and NSBH mergers. We infer the BNS merger rate to be between 10 $\rm{Gpc^{-3} yr^{-1}}$ and 1700 $\rm{Gpc^{-3} yr^{-1}}$ and the NSBH merger rate to be between 7.8 $\rm{Gpc^{-3}\, yr^{-1}}$ and 140 $\rm{Gpc^{-3} yr^{-1}}$ , assuming a constant rate density versus comoving volume and taking the union of 90% credible intervals for methods used in this work. Accounting for the BBH merger rate to evolve with redshift, we find the BBH merger rate to be between 17.9 $\rm{Gpc^{-3}\, yr^{-1}}$ and 44 $\rm{Gpc^{-3}\, yr^{-1}}$ at a fiducial redshift (z=0.2). We obtain a broad neutron star mass distribution extending from $1.2^{+0.1}_{-0.2} M_\odot$ to $2.0^{+0.3}_{-0.3} M_\odot$. We can confidently identify a rapid decrease in merger rate versus component mass between neutron star-like masses and black-hole-like masses, but there is no evidence that the merger rate increases again before 10 $M_\odot$. We also find the BBH mass distribution has localized over- and under-densities relative to a power law distribution. While we continue to find the mass distribution of a binary's more massive component strongly decreases as a function of primary mass, we observe no evidence of a strongly suppressed merger rate above $\sim 60 M_\odot$. The rate of BBH mergers is observed to increase with redshift at a rate proportional to $(1+z)^{\kappa}$ with $\kappa = 2.9^{+1.7}_{-1.8}$ for $z\lesssim 1$. Observed black hole spins are small, with half of spin magnitudes below $\chi_i \simeq 0.25$. We observe evidence of negative aligned spins in the population, and an increase in spin magnitude for systems with more unequal mass ratio

Diving below the spin-down limit:constraints on gravitational waves from the energetic young pulsar PSR J0537-6910

We present a search for continuous gravitational-wave signals from the young, energetic X-ray pulsar PSR J0537-6910 using data from the second and third observing runs of LIGO and Virgo. The search is enabled by a contemporaneous timing ephemeris obtained using NICER data. The NICER ephemeris has also been extended through 2020 October and includes three new glitches. PSR J0537-6910 has the largest spin-down luminosity of any pulsar and is highly active with regards to glitches. Analyses of its long-term and inter-glitch braking indices provided intriguing evidence that its spin-down energy budget may include gravitational-wave emission from a time-varying mass quadrupole moment. Its 62 Hz rotation frequency also puts its possible gravitational-wave emission in the most sensitive band of LIGO/Virgo detectors. Motivated by these considerations, we search for gravitational-wave emission at both once and twice the rotation frequency. We find no signal, however, and report our upper limits. Assuming a rigidly rotating triaxial star, our constraints reach below the gravitational-wave spin-down limit for this star for the first time by more than a factor of two and limit gravitational waves from the l = m = 2 mode to account for less than 14% of the spin-down energy budget. The fiducial equatorial ellipticity is limited to less than about 3 x 10⁻⁵, which is the third best constraint for any young pulsar