Search results for "abnormal"
showing 10 items of 761 documents
Oculoectodermal syndrome: Report of a new case with a broad clinical spectrum
2014
Oculoectodermal syndrome (OMIM 600268) is rare and characterized by aplasia cutis congenita, epibulbar dermoids, and other abnormalities. We report herein on a newly recognized patient with oculoectodermal syndrome, which is the 19th reported patient with OES. The boy aged six years demonstrated a broad clinical spectrum of this condition, including aplasia cutis congenita, epibulbar dermoids, hyperkeratotic papule, mildly enlarged cisterna magna, and an enlarged fluid space in the quadrigeminal cistern, suggesting a cyst. He also manifested anomalies not reported associated with this disorder, including systematized epidermal nevus following Blaschko's lines, hypopigmented skin lesions, an…
Sex reversal from functional disomy of Xp: Prenatal and post-mortem findings.
2008
Translocations involving the short arms of the X and Y chromosomes are uncommon and are often associated with anomalies in gonadal development. Segmental duplications of the X chromosome interfere with the formation of the testis in patients with a 46,XY karyotype. The gene products located within the duplicated segment, when present in double dose, may affect on male sex development. We report on a fetus with karyotype 46,XY,der (14)t(X;14) (p10;p10)dn. Attached to chromosome 14 is the entire short arm of the X chromosome. Therefore, the fetus is affected with a disomy of Xp, resulting in complete male to female sex reversal, as well as other structural defects. To the best of our knowledg…
Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
2019
Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50-70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5-10% display an EP300 gene mutation (RSTS2). Craniospinal abnormalities such as microcranium, scoliosis, and lordosis are frequent findings in RSTS1, but malformations of the brain or spinal cord are seen only occasionally. Here, we report on a 3-year-old boy with facial abnormalities of RSTS, broad thumbs and halluces, developmental delay, autistic features, cerebellar underdevelopment, and a neural tube defect. Molecular diagnostic of the CREBBP and EP3…
Grain growth in Na 0.5 Bi 0.5 TiO 3 -based solid solutions
2019
This paper discusses effects of different dopants, sintering technique and parameters on microstructure and properties of pure and Yb, Er-doped Na0.5Bi0.5TiO3 (NBT). All stoichiometric compositions follow the abnormal grain growth mechanism (AGG) and exhibit a bimodal grain size distribution. Bi over-stoichiometry, two step sintering and hot pressing are effective inhibitors of AGG. Microstructure of sintered NBT greatly influences such properties as dielectric permittivity and depolarization temperature.
Changes in trunk posture and muscle responses in standing during pregnancy and postpartum
2018
Este artículo se encuentra disponible en la página web de la revista en la siguiente URL: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0194853 The aim of this study was to analyze the position of the lumbopelvic region and the muscle activation of erector spinae and biceps femoris muscles in a group of pregnant women in the third trimester. The hypothesis was that pregnancy-related biomechanical and morphological changes modify the position of the lumbopelvic region and the activation of extensor muscles. The position of the lumbar spine and pelvis in the sagittal plane, and the EMG activity of the erector spinae and biceps femoris muscles, were recorded during standing…
Sard property for the endpoint map on some Carnot groups
2016
In Carnot-Caratheodory or sub-Riemannian geometry, one of the major open problems is whether the conclusions of Sard's theorem holds for the endpoint map, a canonical map from an infinite-dimensional path space to the underlying finite-dimensional manifold. The set of critical values for the endpoint map is also known as abnormal set, being the set of endpoints of abnormal extremals leaving the base point. We prove that a strong version of Sard's property holds for all step-2 Carnot groups and several other classes of Lie groups endowed with left-invariant distributions. Namely, we prove that the abnormal set lies in a proper analytic subvariety. In doing so we examine several characterizat…
Prader–Willi Syndrome with Angelman Syndrome in the Offspring
2021
We report the second case, to the best of our knowledge, of a mother with Prader–Willi syndrome (PWS) who gave birth to a daughter with Angelman syndrome (AS). The menarche occurred when she was 16, and the following menstrual cycles were irregular, but she never took sexual hormone replacement therapy. At the age of 26, our patient with PWS became pregnant. The diagnosis was confirmed by molecular genetic testing that revealed a ~5.7 Mb deletion in the 15q11.1–15q13 region on the paternal allele in the mother with PWS and the maternal one in the daughter with AS, respectively. Both the mother with PWS and the daughter with AS showed peculiar clinical and genetic features of the two syndrom…
The angelman syndrome: A brief review
2017
Angelman's Syndrome (AS) was described for the first time by Harry Angelman in the 1960s, based on obervation of three child patients with similar physical and behavioral features such as severe intellectual impairment, lack of language, motor disorders and happy behaviour. Many years later the typical patients' features were identified as linked to genetic abnormalities mainly characterized by neurological symptoms. Life expectancy is good although the symptoms tend to be stable and severe.
Occurrence of Edwardsiella tarda in wild European eels Anguilla anguilla from Mediterranean Spain
2007
Pure cultures of Edwarsiella tarda were isolated from body ulcers and internal organs of wild European eels caught in a Mediterranean freshwater coastal lagoon (Albufera Lake, Valencia, Spain) over a 1 yr period. Overall, the E. tarda isolation rate from wild eels was 9%, but this increased to 22.8% in diseased individuals. All 22 E. tarda isolates belonged to the 'wild-type' biogroup of the species and were virulent for eels (lethal dose that kills 50% of exposed individuals [LD50 dose]: 10(4.85) to 10(6.83) CFU ind.(-1)), and therefore represented the aetiological agent of the haemorrhagic disease observed in wild European eels. The E. tarda isolates and E. tarda CECT 894T type strain wer…
Manganese interferes with calcium, perturbs ERK signaling, and produces embryos with no skeleton.
2011
Manganese (Mn) has been associated with embryo toxicity as it impairs differentiation of neural and skeletogenic cells in vertebrates. Nevertheless, information on the mechanisms operating at the cellular level remains scant. We took advantage of an amenable embryonic model to investigate the effects of Mn in biomineral formation. Sea urchin (Paracentrotus lividus) embryos were exposed to Mn from fertilization, harvested at different developmental stages, and analyzed for their content in calcium (Ca), expression of skeletogenic genes, localization of germ layer markers, and activation of the extracellular signal-regulated kinase (ERK). By optical and immunofluorescence microscopy, we found…