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INtrauterine growth retard

Izabela Łaczmańska, Justyna Kuliczkowska-Płaksej, Agnieszka Stembalska
Short stature, which is defined as height below 2 standard deviations of the mean height for the age and sex, is one of the most frequent reasons for medical consultations in children. Short stature may occur due to a constitutional delay in growth, familial short stature or chronic diseases, including many genetic syndromes, metabolic and endocrine disorders. In this article the authors provide a mini-review of the most frequent genetic syndromes associated with short stature that should be taken into account in the differential diagnosis process...
March 14, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Sato Suzuki-Muromoto, Keisuke Wakusawa, Takuya Miyabayashi, Ryo Sato, Yukimune Okubo, Wakaba Endo, Takehiko Inui, Noriko Togashi, Atsuko Kato, Hiroshi Oba, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto, Kazuhiro Haginoya
Here we report a Japanese patient with new compound heterozygous truncating variants in the PCDH12 gene. As compared to the previously reported families who had congenital microcephaly, intrauterine growth retardation, intracranial calcification, and neonatal seizure associated with dysplasia of the midbrain-hypothalamus-optic tract, the present patient showed no midbrain-hypothalamus dysplasia or congenital/postnatal microcephaly, but dyskinetic cerebral palsy and severe intellectual disability as well as multifocal epilepsy...
March 19, 2018: Journal of Human Genetics
Yuxian Yang, Xiaorong Fan, Jianying Tao, Ting Xu, Yingying Zhang, Wenna Zhang, Lingjun Li, Xiang Li, Hongmei Ding, Miao Sun, Qinqin Gao, Zhice Xu
Prenatal hypoxia causes intrauterine growth retardation. It is unclear whether/how hypoxia affects the bone in fetal and offspring life. This study showed that prenatal hypoxia retarded fetal skeletal growth in rats, inhibited extracellular matrix (ECM) synthesis and down-regulated of insulin-like growth factor 1 (IGF1) signaling in fetal growth plate chondrocytes in vivo and in vitro. In addition, ovariectomized (OVX) was used for study of postmenopausal osteoporosis. Compared with the control, OVX offspring in prenatal hypoxic group showed an enhanced osteoporosis in the femurs, associated with reduced proteoglycan and IGF1 signaling...
March 7, 2018: Reproductive Toxicology
Hegui Huang, Lian Liu, Jing Li, Chunyan Zhu, Xiaoyu Xie, Ying Ao, Hui Wang
Autophagy plays a vital role in embryonic development and cell differentiation. Our previous study demonstrated that prenatal ethanol exposure (PEE) resulted in intrauterine growth retardation (IUGR) and adrenal developmental toxicities in rat offspring. The present study focused on PEE-induced autophagy as an underlying mechanism and its biological significance in female fetal rats. Female fetuses in the PEE group exhibited lower body weights and suffered adrenal structural abnormalities compared to the controls...
March 7, 2018: Toxicology and Applied Pharmacology
Thierry Brue, Vincent Amodru, Frédéric Castinetti
With fewer than 200 reported cases, Cushing's syndrome (CS) in pregnancy remains a diagnostic and therapeutic challenge. In normal pregnancies, misleading signs may be observed such as striae or hypokalemia, while plasma cortisol and urinary free cortisol may rise up to 2-3-fold. While the dexamethasone suppression test is difficult to use, reference values for salivary cortisol appear valid. The predominant cause is adrenal adenoma (sometimes without decreased ACTH), rather than Cushing's disease. There are considerable imaging pitfalls in Cushing's disease...
March 9, 2018: European Journal of Endocrinology
I Maini, I Ivanovski, O Djuric, S G Caraffi, E Errichiello, M Marinelli, F Franchi, V Bizzarri, S Rosato, M Pollazzon, C Gelmini, M Malacarne, C Fusco, G Gargano, S Bernasconi, O Zuffardi, L Garavelli
BACKGROUND: Since 2010, array-CGH (aCGH) has been the first-tier test in the diagnostic approach of children with neurodevelopmental disorders (NDD) or multiple congenital anomalies (MCA) of unknown origin. Its broad application led to the detection of numerous variants of uncertain clinical significance (VOUS). How to appropriately interpret aCGH results represents a challenge for the clinician. METHOD: We present a retrospective study on 293 patients with age range 1 month - 29 years (median 7 years) with NDD and/or MCA and/or dysmorphisms, investigated through aCGH between 2005 and 2016...
March 9, 2018: Italian Journal of Pediatrics
Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Jung Min Ko, Jin-Ho Choi, Han-Wook Yoo
BACKGROUND: Adrenal hypoplasia is a rare congenital disorder, which can be classified into a non-syndromic form, without extra-adrenal features, and a syndromic form, with such features. Despite biochemical and molecular genetic evaluation, etiologic diagnosis cannot be performed in many patients with adrenal hypoplasia. CASE PRESENTATION: The patient in this case was a boy born at 31 weeks of gestation with a weight of 882 g (< 3rd percentile) to non-consanguineous parents...
March 5, 2018: BMC Medical Genetics
Birgül Kirel, Özkan Bozdağ, Pelin Köşger, Sultan Durmuş Aydoğdu, Eylem Alıncak, Neslihan Tekin
Donohue syndrome (Leprechaunism) is characterized by severe insulin resistance, hyperinsulinemia, postprandial hyperglycemia, preprandial hypoglycemia, intrauterine and postnatal growth retardation, dysmorphic findings, and clinical and laboratory findings of hyperandrogenemia due to homozygous or compound heterozygous inactivating mutations in the insulin receptor gene. A female newborn presented with lack of subcutaneous fat tissue, bilateral simian creases, hypertrichosis, especially on her face, gingival hypertrophy, cliteromegaly, and prominent nipples...
December 2017: Türk Pediatri Arşivi
Kui Young Park, Hyun Jung Kwon, Jeong Ha Wie, Han Hee Lee, Sung Bin Cho, Beom Joon Kim, Jung Min Bae
BACKGROUND: Vitiligo is a chronic autoimmune skin disorder affecting 1% of populations worldwide. Few large-scale studies have explored adverse pregnancy outcomes in patients with vitiligo. OBJECTIVE: To investigate adverse pregnancy outcomes in patients with vitiligo. METHODS: We performed a retrospective cohort study on 4,738 pregnancies of women with vitiligo and 47,380 pregnancies of age-matched controls without vitiligo using the Korean National Health Insurance (NHI) Claims database from 2007 to 2016...
February 22, 2018: Journal of the American Academy of Dermatology
Reem Abdwani, Laila Al Shaqsi, Ibrahim Al-Zakwani
Objectives: Systemic lupus erythematous (SLE) is a chronic autoimmune disease that affects women primarily of childbearing age. The objective of this study was to determine the neonatal and maternal outcomes of pregnancies in SLE patients compared to pregnancies in healthy controls. Methods: We conducted a retrospective cohort study in a tertiary care hospital in Oman between January 2007 and December 2013. We analyzed 147 pregnancies and compared 56 (38.0%) pregnancies in women with SLE with 91 (61...
January 2018: Oman Medical Journal
Zehra Nihal Dolgun, Cihan Inan, N Cenk Sayin
OBJECTIVE: Pregnancies complicated with PHT are serious debates for obstetricians due to high maternal and fetal complication potentials. The aim of the study was to present our maternofetal outcomes in pregnant women with pulmonary hypertension. MATERIALS AND METHODS: This study was performed using data extracted from the medical files of 23 pregnancies of 18 patients with PHT who were followed-up in the obstetrics and gynecology department. RESULTS: The average age was 27...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
Yoav Yinon, Dan Farine, Mark H Yudin
OBJECTIVES: To review the principles of prenatal diagnosis of congenital cytomegalovirus (CMV) infection and to describe the outcomes of the affected pregnancies. OUTCOMES: Effective management of fetal infection following primary and secondary maternal CMV infection during pregnancy. Neonatal signs include intrauterine growth restriction (IUGR), microcephaly, hepatosplenomegaly, petechiae, jaundice, chorioretinitis, thrombocytopenia and anemia, and long-term sequelae consist of sensorineural hearing loss, mental retardation, delay of psychomotor development, and visual impairment...
February 2018: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Ashok Daniel Prabakaran, Jimsheena Valiyakath Karakkat, Ranjit Vijayan, Jisha Chalissery, Marwa F Ibrahim, Suneesh Kaimala, Ernest A Adeghate, Ahmed Hasan Al-Marzouqi, Suraiya Anjum Ansari, Mensah-Brown Epk, Bright Starling Emerald
Although the existence of a close relationship between the early maternal developmental environment, fetal size at birth and the risk of developing disease in adulthood has been suggested, most studies, however, employed experimentally induced intrauterine growth restriction as model to link this with later adult disease. Since embryonic size variation occurs under normal growth and differentataion as well, elucidating the molecular mechanisms underlying these changes and their relevance to later adult disease risk becomes important...
January 30, 2018: Disease Models & Mechanisms
Tom Philipp, Jefferson Terry, Michael Feichtinger, Sandra Grillenberger, Beda Hartmann, Stefan Jirecek
OBJECTIVE: The morphologic features of embryos with full trisomy 15 are described. METHOD: A total of 1195 pregnancy losses were examined embryoscopically and cytogenetically. RESULTS: Of 1173 successfully karyotyped specimens, full trisomy 15 was diagnosed cytogenetically in 59 cases (5%). All 59 trisomy 15 embryos were diagnosed cytogenetically in the group of 962 embryonic miscarriages (6%). Trisomy 15 was not registered in 171 anembryonic or yolk sac miscarriages, and no case of full trisomy 15 was observed in 62 fetal miscarriages...
February 8, 2018: Prenatal Diagnosis
Selen G Erzincan, Fusun G Varol, Cihan Inan, N Cenk Sayin
To investigate the levels of Prokineticin-1 (PROK1) and matrix metalloproteinase-2 (MMP-2) in second-trimester amniotic fluid (AF). AF samples were investigated in 81 patients. AF-PROK1 and AF-MMP-2 were not significantly associated with adverse pregnancy outcomes (preeclampsia, intrauterine growth retardation, spontaneous preterm birth, gestational diabetes, gestational hypertension). AF-PROK1 levels in patients with abnormal first-trimester screening were significantly higher than those who underwent amniocentesis due to abnormal second-trimester screening tests (p = ...
February 2018: Placenta
Miki Kanoh, Kei Inai, Tokuko Shinohara, Eriko Shimada, Mikiko Shimizu, Hirofumi Tomimatsu, Masaki Ogawa, Toshio Nakanishi
AIM: We investigated the clinical courses before and during pregnancy and after delivery in patients with repaired anomalous origin of the left coronary artery from the pulmonary artery to determine the impact of the hemodynamic changes and cardiac function on the selection of the appropriate mode of delivery. METHODS: Six patients who underwent coronary artery reimplantation delivered 10 infants. We scrutinized the patients' hemodynamic changes on echocardiographs and the plasma brain natriuretic peptide levels before and during pregnancy and after delivery, the perinatal outcomes and maternal and fetal events...
February 5, 2018: Journal of Obstetrics and Gynaecology Research
Xia Li, Xiaojing Yang, E Xiang, Jinyuan Luo, Shuaikai Qiu, Yan Fang, Li Zhang, Yu Guo, Jiang Zheng, Hui Wang
Pyrrolizidine alkaloids (PAs) are extensively synthesized by plants and are commonly present in herbs and foodstuffs, which exhibit hepatotoxicity requiring metabolic activation by cytochrome P450 (CYP) 3A to form the electrophilic metabolites-pyrrolic ester. PAs also cause embryo toxicity, but the metabolic profiles of PAs in fetus and placenta have been far from clear. In this study, we determined the basal metabolic activation of retrorsine (RTS) in rat maternal liver, placenta and fetal liver in vitro, and examined the fetal toxicity and bioactivation of RTS in vivo...
January 19, 2018: Drug Metabolism and Disposition: the Biological Fate of Chemicals
Sachin Khanduri, Saakshi Chhabra, Santosh Yadav, Tushar Sabharwal, Mriganki Chaudhary, Tarim Usmani, Aakshit Goyal, Hritik Sharma
OBJECTIVE: To evaluate the usefulness of Color Doppler flowmetry in the prediction of intrauterine growth restriction (IUGR) in high-risk pregnancies. MATERIALS AND METHOD: A total of 62 high-risk pregnant women underwent Color Doppler flowmetric umbilical artery pulsatility index (PI), resistive index (RI) and systolic/diastolic (S/D) ratio, middle cerebral artery PI, RI and S/D ratio, Ductus venosus S-wave/isovolumetric A-wave index (SIA) and vertebral artery RI at 23-27 weeks, 28-32 weeks and 32-36 weeks of their pregnancy...
November 8, 2017: Curēus
Jaime Guevara-Aguirre, Alexandra Guevara, Marisol Bahamonde
Specific phenotypic features of subjects affected with genetic syndromes depend on peculiarities of expression of each discrete mutation and on extent of its divergence from normal physiology. In this context, and when studying the GH/IGF-I axis of subjects with two different syndromes that include severe short stature (SSS), we noticed different metabolic phenotypes in each cohort. Subjects with Laron syndrome (LS), who have GH insensitivity (GHI), display obesity, increased body fat, enhanced insulin sensitivity and diminished incidence of diabetes mellitus...
December 20, 2017: Growth Hormone & IGF Research
Bobby G Ng, Gege Xu, Nandini Chandy, Joan Steyermark, Deepali N Shinde, Kelly Radtke, Kimiyo Raymond, Carlito B Lebrilla, Ali AlAsmari, Sharon F Suchy, Zöe Powis, Eissa Ali Faqeih, Susan A Berry, David F Kronn, Hudson H Freeze
Fucosyltransferase 8 (FUT8) encodes a Golgi-localized α1,6 fucosyltransferase that is essential for transferring the monosaccharide fucose into N-linked glycoproteins, a process known as "core fucosylation." Here we describe three unrelated individuals, who presented with intrauterine growth retardation, severe developmental and growth delays with shortened limbs, neurological impairments, and respiratory complications. Each underwent whole-exome sequencing and was found to carry pathogenic variants in FUT8...
January 4, 2018: American Journal of Human Genetics
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