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Yu Sun, Guorui Hu, Huili Liu, Xia Zhang, Zhuo Huang, Hui Yan, Lili Wang, Yanjie Fan, Xuefan Gu, Yongguo Yu
KMT2A mutations cause Wiedemann-Steiner syndrome (WDSTS), which is characterized by hypertrichosis cubiti, short stature, and distinct facial features in general. Here, we report two Chinese boys with novel nonsense KMT2A mutations. Most of their phenotypes are concordant with WDSTS. They, however, lack the key WDSTS feature-hypertrichosis cubiti. Additionally, their transverse palmar creases are absent. We further summarized the genotypes and phenotypes of the KMT2A mutation carriers. The consensus phenotypes include postnatal growth retardation, developmental delay, short stature, and intellectual disability...
October 19, 2016: American Journal of Medical Genetics. Part A
Damien Seth Hunter, Susan J Hazel, Karen L Kind, Hong Liu, Danila Marini, Lynne C Giles, Miles J De Blasio, Julie A Owens, Julia B Pitcher, Kathryn L Gatford
Poor perinatal growth in humans results in asymmetrical grey matter loss in fetuses and infants and increased functional and behavioural asymmetry, but specific contributions of pre- and postnatal growth are unclear. We therefore compared strength and direction of lateralization in obstacle avoidance and maze exit preference tasks in offspring of placentally restricted (PR: 10M, 13F) and control (CON: 23M, 17F) sheep pregnancies at 18 and 40 weeks of age, and examined gross brain structure of the prefrontal cortex at 52 weeks of age (PR: 14M, 18F; CON: 23M, 25F)...
October 19, 2016: Laterality
Nobuhiro Nagai, Satoru Iwata, Hirokazu Kaji, Kaori Sampei, Yuki Katsukura, Hideyuki Onami, Matsuhiko Nishizawa, Toru Nakazawa, Yukihiko Mashima, Toshiaki Abe
It has been suggested that unoprostone isopropyl (UNO) has potent neuroprotective activity in the retina. The effect of sustained transscleral UNO delivery to the posterior segment of the eye on photoreceptor degeneration was evaluated. UNO was loaded into a device made of poly(ethyleneglycol) dimethacrylate by polydimethylsiloxane mold-based UV-curing. The amount of UNO diffusing from these devices was measured using high-performance liquid chromatography. The polymeric devices that released UNO at 1.8 μg/day were implanted on the sclerae of S334ter rats at postnatal 21 days, and electroretinograms (ERGs) were compared with those of topical application and placebo devices...
November 2016: Journal of Biomedical Materials Research. Part B, Applied Biomaterials
Emily L Tuthill, Jennifer A Pellowski, Sera L Young, Lisa M Butler
Exclusive breastfeeding (EBF) provides infants with optimal nutrition, and together with appropriate antiretroviral therapy has also been shown to decrease mother-to-child transmission of HIV from 45 to less than 1 %. However, rates of EBF are particularly low in South Africa, where rates of HIV are some of the highest in the world. Although perinatal depression has been identified as a potential barrier to EBF, little is known about its impact on EBF among HIV-infected women. A cohort study was conducted as part of a pilot randomized controlled trial (RCT) examining the effect of an Information, Motivation and Behavioral skills-based intervention promoting EBF among South African women living with HIV in their third trimester (28-42 weeks) of pregnancy...
October 17, 2016: AIDS and Behavior
Reza Yazdanimehr, Abdollah Omidi, Zohreh Sadat, Hossein Akbari
Introduction: Pregnancy can be associated with different psychological problems such as depression and anxiety. These problems are often neglected and left untreated. This study aimed to examine the effect of mindfulness-integrated cognitive behavior therapy on depression and anxiety among pregnant women. Methods: A convenient sample of 80 pregnant women were selected. Participants were randomly allocated to either the experimental or the control groups. Participants in the experimental group received mindfulness-integrated cognitive behavior therapy while women in the control group only received routine prenatal care services...
September 2016: Journal of Caring Sciences
Martin Kyncl, Martin Koci, Lea Ptackova, Ludmila Hornofova, Fabian Ondrej, Jiri Snajdauf, Marcela Pychova
BACKGROUND: This study evaluated the accuracy of postnatal computed tomography (CT) imaging in the identification of congenital bronchopulmonary malformation (BPM) in comparison with histopathological analysis. METHODS: CT scans of prenatally diagnosed BPMs from 24 patients with available histology were analysed retrospectively. The CT images were reviewed blinded to histological findings by two radiologists. Specific diagnosis was assigned based on predetermined criteria...
October 17, 2016: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
Anoeska Agatha Alida van de Moosdijk, Renée van Amerongen
Cell growth and differentiation are often driven by subtle changes in gene expression. Many challenges still exist in detecting these changes, particularly in the context of a complex, developing tissue. Quantitative reverse transcription polymerase chain reaction (qRT-PCR) allows relatively high-throughput evaluation of multiple genes and developmental time points. Proper quantification of gene expression levels by qRT-PCR requires normalization to one or more reference genes. Traditionally, these genes have been selected based on their presumed "housekeeping" function, with the implicit assumption that they are stably expressed over the entire experimental set...
October 18, 2016: Scientific Reports
Masahiro Kinoshita, Sachiko Iwata, Hisayoshi Okamura, Mamoru Saikusa, Naoko Hara, Chihoko Urata, Yuko Araki, Osuke Iwata
Studies suggested the presence of foetal adrenal rhythms of cortisol, which are entrained in antiphase to maternal rhythms. In contrast, neonates are thought to have no adrenal rhythm until 2-3 months after birth. To test the hypothesis that a foetal-type adrenal rhythm is preserved after birth, saliva samples were collected from 65 preterm/term infants during hospital stay (30-40 weeks corrected age) at 10:00 and 19:00 h. Cortisol levels were assessed for their diurnal difference and dependence on antenatal/postnatal clinical variables...
October 18, 2016: Scientific Reports
Neil C Ford, Mark L Baccei
Spinal lamina I projection neurons serve as a major conduit by which noxious stimuli detected in the periphery are transmitted to nociceptive circuits in the brain, including the parabrachial nucleus (PB) and the periaqueductal gray (PAG). While neonatal spino-PB neurons are more than twice as likely to exhibit spontaneous activity compared to spino-PAG neurons, the underlying mechanisms remain unclear since nothing is known about the voltage-independent (i.e. 'leak') ion channels expressed by these distinct populations during early life...
October 14, 2016: Neuroscience
Virginia Mela, Sara Jimenez, Alejandra Freire-Regatillo, Vicente Barrios, Eva-María Marco, Ana-Belén Lopez-Rodriguez, Jesús Argente, María-Paz Viveros, Julie A Chowen
The neonatal leptin surge, occurring from postnatal day (PND) 5 to 13 and peaking at PND9 in rodents, is important for the development of neuroendocrine circuits involved in metabolic control and reproductive function. We previously demonstrated that treatment with a leptin antagonist from PND 5 to 9, coincident with peak leptin levels in the neonatal surge, modified trophic factors and markers of cell turnover and neuronal maturation in the hypothalamus of peri-pubertal rats. The kisspeptin system and metabolic neuropeptide and hormone levels were also modified...
October 14, 2016: Peptides
Eunchai Kang, Daniel A Berg, Orion Furmanski, William M Jackson, Yun Kyoung Ryu, Christy D Gray, C David Mintz
The mechanism by which anesthetics might act on the developing brain in order to cause long term deficits remains incompletely understood. The hippocampus has been identified as a structure that is likely to be involved, as rodent models show numerous deficits in behavioral tasks of learning that are hippocampal-dependent. The hippocampus is an unusual structure in that it is the site of large amounts of neurogenesis postnatally, particularly in the first year of life in humans, and these newly generated neurons are critical to the function of this structure...
October 14, 2016: Neurotoxicology and Teratology
Chih-Ping Chen, Tsang-Ming Ko, Yi-Ning Su, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Kevin Ko, Chen-Chi Lee, Li-Feng Chen, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a recombinant chromosome 10 in a fetus associated with a paternal pericentric inversion. CASE REPORT: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of an advanced maternal age. Amniocentesis revealed a karyotype of 46,XY,der(10)del(10) (q26.3)dup(10)(p11.2p15). She underwent repeat amniocentesis at 21 weeks of gestation and array comparative genomic hybridization revealed a 31...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
Chih-Ping Chen, Liang-Kai Wang, Schu-Rern Chern, Yen-Ni Chen, Shin-Wen Chen, Peih-Shan Wu, Dai-Dyi Town, Chen-Wen Pan, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular genetic analysis of mosaic trisomy 17 and a review of the literature of mosaic trisomy 17 at amniocentesis. MATERIALS AND METHODS: A 42-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age, which revealed a karyotype of 47,XX,+17[4]/46,XX[17]. Prenatal ultrasound findings were unremarkable. She underwent repeat amniocentesis at 20 weeks of gestation. Interphase fluorescence in situ hybridization (FISH), array comparative genomic hybridization, and quantitative fluorescent polymerase chain reaction assays were applied to uncultured amniocytes...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
Shi-Fa Zhang, Yan Zhou, Kai-Jing Zhang, Jia-Jie Luan, Shi-Mei Qi
OBJECTIVE: To investigate the effect of Nogo-66 receptor (NgR) silencing with specific small interfering RNA (siRNA) on brain injury repair in preterm rats with brain injury caused by intrauterine infection and related mechanism of action. METHODS: The pregnant Sprague-Dawley rats (with a gestational age of 15 days) were selected, and premature delivery was induced by RU486 or lipopolysaccharide (LPS). The preterm rats delivered by those treated with RU486 were selected as the control group...
October 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Ping Zhou, Rui Chen, Cai-Yan Zou, Min Zhang, Zhao-Hong Chen, Li-Ya Ma
OBJECTIVE: To study the postnatal changes in lymphocyte subsets in early preterm infants and the effect of perinatal factors on lymphocyte subsets. METHODS: A total of 61 early preterm infants were enrolled. Flow cytometry was used to measure the absolute counts of lymphocytes and lymphocyte subsets at 1, 7, 14, and 28 days after birth, as well as at 6 months after birth for 17 of these early preterm infants. The effects of perinatal factors, such as antepartum use of hormone, intrauterine infection, gestational age at birth, and Ureaplasma urealyticum (UU) colonization, on lymphocyte subsets were analyzed...
October 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
I Louveau, M-H Perruchot, M Bonnet, F Gondret
Both white and brown adipose tissues are recognized to be differently involved in energy metabolism and are also able to secrete a variety of factors called adipokines that are involved in a wide range of physiological and metabolic functions. Brown adipose tissue is predominant around birth, except in pigs. Irrespective of species, white adipose tissue has a large capacity to expand postnatally and is able to adapt to a variety of factors. The aim of this review is to update the cellular and molecular mechanisms associated with pre- and postnatal adipose tissue development with a special focus on pigs and ruminants...
November 2016: Animal: An International Journal of Animal Bioscience
Kai Hu, Bjorn R Olsen
Vascular Endothelial Growth factor A (VEGF) is a critical regulator of vascular development, postnatal angiogenesis and homeostasis, and it is essential for bone development and repair. Blood vessels serve both as structural templates for bone formation and they provide essential cells, growth factors and minerals needed for synthesis and mineralization, as well as turnover, of the extracellular matrix in bone. Through its regulation of angiogenesis, VEGF contributes to coupling of osteogenesis to angiogenesis, and it directly controls the differentiation and function of osteoblasts and osteoclasts...
October 17, 2016: Developmental Dynamics: An Official Publication of the American Association of Anatomists
Kristine Coleman, Nicola D Robertson, Gregory A Dissen, Martha D Neuringer, L Drew Martin, Verginia C Cuzon Carlson, Christopher Kroenke, Damien Fair, Ansgar M Brambrink
BACKGROUND: Experimental evidence correlates anesthetic exposure during early development with neuronal and glial injury and death, as well as behavioral and cognitive impairments, in young animals. Several, although not all, retrospective human studies of neurocognitive and behavioral disorders after childhood exposure to anesthesia suggest a similar association. Few studies have specifically investigated the effects of infant anesthesia exposure on subsequent neurobehavioral development...
October 5, 2016: Anesthesiology
Youn Hee Jee, Nadine Sowada, Thomas C Markello, Iraj Rezvani, Guntram Borck, Jeffrey Baron
Linear growth failure can be caused by many different genetic abnormalities. In many cases, the genetic defect affects not only the growth plate, causing short stature, but also other organs/tissues causing additional clinical abnormalities. The proband was evaluated at 10 years of age for impaired postnatal linear growth (height 113.3 cm, -4.6 SDS), a bone age that was delayed by 5 years, dysmorphic facies, cognitive impairment, and central nervous system anomalies. His younger brother, presented only with growth failure at 10 months of age...
October 17, 2016: Clinical Genetics
Miguel A Gonzalez-Lozano, Patricia Klemmer, Titia Gebuis, Chopie Hassan, Pim van Nierop, Ronald E van Kesteren, August B Smit, Ka Wan Li
Development of the brain involves the formation and maturation of numerous synapses. This process requires prominent changes of the synaptic proteome and potentially involves thousands of different proteins at every synapse. To date the proteome analysis of synapse development has been studied sparsely. Here, we analyzed the cortical synaptic membrane proteome of juvenile postnatal days 9 (P9), P15, P21, P27, adolescent (P35) and different adult ages P70, P140 and P280 of C57Bl6/J mice. Using a quantitative proteomics workflow we quantified 1560 proteins of which 696 showed statistically significant differences over time...
October 17, 2016: Scientific Reports
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