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Journal articles on the topic 'Downer syndrome'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

Rulff, R., W. Schrödl, S. Basiouni, J. Neuhaus, and M. Krüger. "Is downer cow syndrome related to chronic botulism?" Polish Journal of Veterinary Sciences 18, no. 4 (2015): 759–65. http://dx.doi.org/10.1515/pjvs-2015-0098.

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Abstract The present work was directed to investigate the relationship between Downer cow syndrome (DCS) and chronic botulism in dairy cattle. For this purpose, a total of 52 fresh calving downer cows and 206 apparently healthy cows at 14 dairy farms were investigated for Clostridium botulinum ABE and CD antibody levels, C. botulinum and botulinum neurotoxin in rumen fluids as well as in faeces. Results indicated that the downer cows had higher IgG titers for C. botulinum ABE and CD than the healthy cows. All tested rumen fluids were negative for BoNT and C. botulinum. BoNT/D, however, and C.

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2

Correa, Maria T., Hollis N. Erb, and Janet M. Scarlett. "Risk Factors for Downer Cow Syndrome." Journal of Dairy Science 76, no. 11 (1993): 3460–63. http://dx.doi.org/10.3168/jds.s0022-0302(93)77685-7.

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3

Djokic, Slavisa, Marko Cincovic, Branislava Belic, Miodrag Radinovic, Dragica Stojanovic, and Radojica Djokovic. "Laboratory profile in downer cow syndrome." Letopis naucnih radova Poljoprivrednog fakulteta 38, no. 1 (2014): 190–99. http://dx.doi.org/10.5937/lnrpfns1401190d.

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4

Nagarjuna, D., VG Bhagwat, and V. Santhosh Kumar. "Evaluation of the prophylactic efficacy of oral calcium gel in preventing milk fever relapse and hypocalcemia in post-calved dairy cows." International Journal of Veterinary Science and Research 9, no. 4 (2023): 091–95. http://dx.doi.org/10.17352/ijvsr.000142.

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Oral Calcium Gel (OCG) is a promising prophylactic and supportive supplement for milk fever and Downer syndrome in postcalved dairy cows. This study evaluated the efficacy of OCG supplementing in improving rumen motility, feed intake, parturition/calving, Retention of Placenta (ROP), and product performance and safety. A total of 30 postcalved dairy cows were randomly divided into three groups: G1, cows selected immediately after calving (n = 7); G2, cows with milk fever (n = 14); and G3, cows with milk fever and Downer syndrome (n = 9). The cows in G1 and G2 were supplemented with OCG 300 g;

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5

Cox, Victor S. "Nonsystemic Causes of the Downer Cow Syndrome." Veterinary Clinics of North America: Food Animal Practice 4, no. 2 (1988): 413–33. http://dx.doi.org/10.1016/s0749-0720(15)31057-4.

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6

Jönsson, G., and B. Pehrson. "Studies on the Downer Syndrome in Dairy Cows." Zentralblatt für Veterinärmedizin Reihe A 16, no. 9 (2010): 757–84. http://dx.doi.org/10.1111/j.1439-0442.1969.tb00560.x.

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7

Molefe, K., and M. Mwanza. "Variability of serum reproductive hormones in cows presenting various reproductive conditions in semi-arid areas of the North West Province, South Africa." Veterinary World 13, no. 3 (2020): 502–7. http://dx.doi.org/10.14202/vetworld.2020.502-507.

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Background and Aim: Hormones play a significant role in supporting reproductive processes. Predisposition to metabolic disorders may result from biological alterations in the neurohormonal system, thus leading to impaired immune function and poor reproductive performance. The aim of this study was to determine the reproductive hormonal profile in cows with reproductive conditions in semi-arid areas of the North West Province, South Africa, to establish possible correlations between different conditions and the hormonal profile. Materials and Methods: Blood samples were collected from cows in d

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8

Barlet, J. P., та M. J. Davicco. "1α-Hydroxycholecalciferol for the Treatment of the Downer Cow Syndrome". Journal of Dairy Science 75, № 5 (1992): 1253–56. http://dx.doi.org/10.3168/jds.s0022-0302(92)77874-6.

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9

DIMA, Gabriel, Laur MANEA, Ion V. POPESCU, Claudia STIHI, Teodor BADICA, and Agata OLARIU. "PIXE ANALYSIS OF Ca AND P IN THE DOWNER COW SYNDROME." International Journal of PIXE 09, no. 01n02 (1999): 35–42. http://dx.doi.org/10.1142/s0129083599000061.

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The aim of this work is the microelemental analysis of blood serum samples collected from healthy and ill cows (downer cow syndrome (DCS)). Today the origin of DCS is uncertain. At the beginning of our work, we assume some connections among the diminution of some nutritive elements from food, the activity of some enzymes and the origin of DCS. The samples were collected from cows at some animal farms on the neighbourhood of Targoviste city. To obtain a microelemental monitoring of these samples, we used a nuclear analysis method PIXE (Particle Induced X-Rays Emission) and a spectrometric one I

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10

Molefe, Keitiretse, and Mulunda Mwanza. "Minerals and Serum Metabolites Profile in Cows Reared on Natural Pastures in a Semi-Arid Area." World Journal of Veterinary Science 11 (November 24, 2023): 1–10. http://dx.doi.org/10.12970/2310-0796.2023.11.01.

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This study aimed to profile minerals and metabolite levels in cows solely reliant on natural pastures. Mineral plays a significant role in cattle production and reproduction. Measures of serum metabolites are good indicators in disease diagnosis and nutritional status of animals. A total of 179 blood samples were collected from cases of cows of different ages and breeds experiencing dystocia (n=50), downer cow syndrome (n=34), vaginal prolapse (n=16), retained placenta (n=13), and abortions (n=69) following reports submitted to the North-West (NWU) Animal Hospital in Mafikeng Campus. Analysis

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11

Fenwick, D., W. Kelly, and R. Daniel. "Definition of a non-alert downer cow syndrome and some case histories." Veterinary Record 118, no. 5 (1986): 124–28. http://dx.doi.org/10.1136/vr.118.5.124.

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12

Nakao, T., and E. Grunert. "Adrenocortical Function in Cows with the Downer Cow Syndrome A Preliminary Report." Journal of Veterinary Medicine Series A 37, no. 1-10 (1990): 610–13. http://dx.doi.org/10.1111/j.1439-0442.1990.tb00952.x.

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13

Lakshmi, R., R. Gogul Kumar, CS Yashwantika, et al. "Haematological and serum biochemical Investigation of “Downer cow syndrome” Affected crossbred cattle." International Journal of Advanced Biochemistry Research 9, no. 4S (2025): 265–67. https://doi.org/10.33545/26174693.2025.v9.i4sd.4118.

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14

Zelený, T., J. Zelený, V. Kroupová, and P. Slavík. "Dynamics of Calcaemia, Phosphoraemia and Magnesaemia at Different Prepartal Intakes of Calcium in Dairy Cows." Acta Veterinaria Brno 76, no. 2 (2007): 187–93. http://dx.doi.org/10.2754/avb200776020187.

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The objective of this study was to compare the efficiency of high and low Ca intake in cows with analytically defined levels of calcaemia, phosphoraemia and magnesaemia in the prepartal period, on their postpartal changes important for the diagnosis of postpartal diseases. In dairy cows (Czech Pied cattle) receiving a winter feed ration, the prepartal intake of Ca was adjusted from day 241 of pregnancy to 80% in group A (n = 15) and to 160% of the standard in group B (n = 9). In both groups the concentrations of Ca, P and Mg in blood serum were measured at the beginning of experimental diets,

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15

Ohfuji, S. "Renaut bodies in the hind limb nerves of cattle with downer cow syndrome." Comparative Clinical Pathology 27, no. 3 (2018): 781–88. http://dx.doi.org/10.1007/s00580-018-2665-x.

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16

Nowroozi Asl, A., A. Rowshan Ghasrodashti, and S. Nazifi. "Successful management of a case of downer syndrome in a crossbred cow after 45 days of recumbency." Comparative Clinical Pathology 19, no. 3 (2009): 241–42. http://dx.doi.org/10.1007/s00580-009-0859-y.

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17

Nugrahaini, Amelia Dwi, Mashyuri Masyhuri, and Any Suryantini. "Determinant Factors for Cattle Insurance as a Risk Management Strategy." AGRIEKONOMIKA 10, no. 1 (2021): 113–24. http://dx.doi.org/10.21107/agriekonomika.v10i1.10147.

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Cattle farmers in Gunungkidul Regency face several cattle diseases such as Helminthiasis, Anthrax, Downer Cow Syndrome, and Intoxication in which these diseases mostly attack female cows. To prevent financial loss for the farmers, the government facilitates them with cattle insurance. This study aims to determine the reasons and the cattle farmers’ willingness-to-pay for the cattle insurance by conducting a survey addressed to 100 cattle farmers and identifying the factors related to it. This study used a Contingent Valuation Method in estimating the cattle farmer's WTP. The various factors th

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18

Labonté, J., J. Dubuc, J. P. Roy, and S. Buczinski. "Prognostic Value of Cardiac Troponin I and L-Lactate in Blood of Dairy Cows Affected by Downer Cow Syndrome." Journal of Veterinary Internal Medicine 32, no. 1 (2017): 484–90. http://dx.doi.org/10.1111/jvim.14874.

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19

Ohfuji, S. "Pathological evaluation of thigh muscle, sciatic nerve, and spinal cord in downer cow syndrome with emphasis on the prognostic significance." Comparative Clinical Pathology 28, no. 1 (2018): 117–27. http://dx.doi.org/10.1007/s00580-018-2804-4.

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20

Eckel, Emily F., and Burim N. Ametaj. "Bacterial Endotoxins and Their Role in Periparturient Diseases of Dairy Cows: Mucosal Vaccine Perspectives." Dairy 1, no. 1 (2020): 61–90. http://dx.doi.org/10.3390/dairy1010006.

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During the periparturient period there is a significant increase in the incidence of multiple metabolic and infectious diseases in dairy cows. Dairy cows are fed high-grain diets immediately after calving to support production of large amounts of milk. Mounting evidence indicates these types of diets are associated with the release of high amounts of endotoxins in the rumen fluid. If infected, the udder and uterus additionally become important sources of endotoxins during the postpartum period. There is increasing evidence that endotoxins translocate from rumen, uterus, or udder into the syste

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21

Ametaj, Burim N., Qendrim Zebeli, and Summera Iqbal. "Nutrition, microbiota, and endotoxin-related diseases in dairy cows." Revista Brasileira de Zootecnia 39, suppl spe (2010): 433–44. http://dx.doi.org/10.1590/s1516-35982010001300048.

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In this review article we present an overall summary of the role that high-grain/low forage diets have on rumen composition of microbiota and how changes in the diet affect the release of bacterial cell wall components that are toxic to the host. One of these toxic compounds is lipopolysaccharide or endotoxin, a component of the outer membrane of all Gram-negative bacteria. Moreover, data are provided that support the concept that endotoxin translocates into the blood circulation and show that rumen endotoxin is associated with multiple perturbations of blood variables related to carbohydrate,

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22

Onapito, John S., Marc R. Raffe, and Victor S. Cox. "Pressure-induced changes in fibular motor nerve conduction velocity and fibularis (peroneus) tertius muscle-evoked potentials in a goat model of the downer cow syndrome." American Journal of Veterinary Research 47, no. 8 (1986): 1747–50. https://doi.org/10.2460/ajvr.1986.47.08.1747.

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SUMMARY A study was conducted to determine the acceptable fibular motor nerve conduction velocity (ncv) in goats and to characterize pressure-induced changes in conduction velocity and muscle-evoked potentials (mep). The acceptable motor ncv in the adult goat was determined to be 95.9 ± 6.8 m/s. Limb compression in recumbent cows was modeled by application of external compression to the goat pelvic limb to increase im pressure to a minimum of 50 mm of Hg. This pressure, when applied for a 6-hour period, caused a 30% to 100% reduction of fibular motor ncv and a 10% to 100% reduction of amplitud

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23

Fowler, Joan, Ciaran Carty, and Liam Miller. "Downe Syndrome." Books Ireland, no. 112 (1987): 63. http://dx.doi.org/10.2307/20630545.

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24

Loveland, Katherine A., Belgin Tunalia, Robin E. Mcevoy, and Michelle L. Kelley. "Referential communication and response adequacy in autism and Down's syndrome." Applied Psycholinguistics 10, no. 3 (1989): 301–13. http://dx.doi.org/10.1017/s014271640000864x.

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ABSTRACTThis study investigated the ability of high-functioning verbal adolescents with autism or Down's syndrome to perform a referential communication task. It was predicted that autistic subjects would require more specific prompting to convey needed information to a listener than would subjects with Down's syndrome of the same verbal level. Subjects, 13 with autism and 14 with Down's syndrome, matched on verbal mental age, learned a simple board game, and were asked to teach it to a listener who used varying levels of prompting to elicit target information. Most subjects in the autistic gr

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25

Pešut, D., S. Raljević, and Tomić Slijepčević. "Unusual Detection of Tuberculosis in a Woman with Down's Syndrome." Balkan Journal of Medical Genetics 13, no. 1 (2010): 59–62. http://dx.doi.org/10.2478/v10034-010-0021-9.

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Unusual Detection of Tuberculosis in a Woman with Down's SyndromeA woman with Down's syndrome (DS) had sub-febrile temperature, nodular/patchy shadows on the chest X-ray over the right pulmonary base, and a history of recurrent respiratory infections. She was pale, asthenic, uncommunicative, mildly anemic and the erythrocyte sedimentation rate was 80/first hour. The tuberculin skin test (TST) PPD3 was negative. Mycobacterium tuberculosis was isolated from oral mucosal brushing, sensitive to the first line anti-tuberculosis drugs. Patients with DS and other mental disabilities need special care

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26

Huang, T., H. C. Watt, N. J. Wald, J. K. Morris, D. Mutton, and E. Alberman Emeritus. "Reliability of Statistics on Down's Syndrome Notifications." Journal of Medical Screening 4, no. 2 (1997): 95–97. http://dx.doi.org/10.1177/096914139700400205.

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Objectives— To evaluate the completeness of notifications of Down's syndrome live births and terminations to the Office for National Statistics (ONS) using data from the National Down Syndrome Cytogenetic Register (NDSCR). To examine the agreement of observed birth prevalence of Down's syndrome with the expected birth prevalence derived from published maternal age specific rates. Methods— The number of live births (adjusted to allow for the estimated under-ascertainment) and the number of terminations due to fetal Down's syndrome from NDSCR were compared with those figures reported to the ONS.

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27

Deb, Shoumitro, John Braganza, Nadine Norton та ін. "APOE ε4 influences the manifestation of Alzheimer's disease in adults with Down's syndrome". British Journal of Psychiatry 176, № 5 (2000): 468–72. http://dx.doi.org/10.1192/bjp.176.5.468.

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BackgroundRecent studies of the relationship between the apolipoprotein E (APOE) gene and Alzheimer's disease in adults with Down's syndrome have revealed inconsistent results.AimsTo assess the role of the APOE gene in the manifestation of Alzheimer's disease in adults with Down's syndrome.MethodWe studied the APOE genotypes of 24 adults with dementia and 33 non-demented adults with Down's syndrome over 35 years of age, and an additional group of 164 non-learning disabled adults. We also carried out a meta-analysis of all previously published studies of association between APOE and Down's synd

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28

Allam, Hatem H., Mosfer A. Al-Walah, and Lamiaa K. Elsayyad. "Walking capacity in boys with Down's syndrome in Saudi Arabia." International Journal of Therapy and Rehabilitation 27, no. 2 (2020): 1–9. http://dx.doi.org/10.12968/ijtr.2018.0008.

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Background/Aims Children with Down's syndrome are often considered to be sedentary and less likely to engage in the recommended levels of physical activity. The aim of this study was to compare the walking capacity of male children with Down's syndrome with a group of typically healthy age-matched children in Saudi Arabia. Methods A total of 78 male children aged from 8 to 12 years participated in the study. They were divided into two groups. The first group comprised 37 male children with Down's syndrome, recruited from the Down's Syndrome Charitable Association and Al-Nahda Schools. The seco

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Khalid-Raja, M., and K. Tzifa. "Current demand of paediatric otolaryngology input for children with Down's syndrome in a tertiary referral centre." Journal of Laryngology & Otology 130, no. 11 (2016): 995–1000. http://dx.doi.org/10.1017/s0022215116008963.

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AbstractObjective:This study aimed to evaluate the activity of paediatric otolaryngology services required for children with Down's syndrome in a tertiary referral centre.Methods:A review of the paediatric otolaryngology input for children with Down's syndrome was performed; data were obtained from the coding department for a two-year period and compared with other surgical specialties.Results:Between June 2011 and May 2013, 106 otolaryngology procedures were performed on children with Down's syndrome. This compared to 87 cardiac and 81 general paediatrics cases. The most common pathologies in

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30

Collacott, Richard A., Sally-Ann Cooper, David Branford, and Catherine McGrother. "Behaviour phenotype for Down's syndrome." British Journal of Psychiatry 172, no. 1 (1998): 85–89. http://dx.doi.org/10.1192/bjp.172.1.85.

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BackgroundFor more than a century, the idea of particular personality/behavioural characteristics being associated with people with Down's syndrome has been explored, but with inconclusive results.MethodThe Disability Assessment Schedule was used to ascertain the behavioural profiles of 360 adults with Down's syndrome and 1829 adults with learning disabilities of other aetiologies, who were the whole identified population within a defined geographical area. Comparison was made between the two total groups and additionally for the subgroups aged < 35 years and aged ⩾35 years. Comparison was

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31

Crossley, Jennifer A., David A. Aitken, Esther Berry, and J. Michael Connor. "Impact of a Regional Screening Programme Using Maternal Serum a Fetoprotein (AFP) and Human Chorionic Gonadotrophin (hCG) on the Birth Incidence of Down's Syndrome in the West of Scotland." Journal of Medical Screening 1, no. 3 (1994): 180–83. http://dx.doi.org/10.1177/096914139400100309.

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To evaluate the impact of a large scale population screening programme on the birth incidence of Down's syndrome in the west of Scotland over a 12 month period. Biochemical screening for Down's syndrome using maternal serum α fetoprotein, chorionic gonadotrophin, and maternal age was offered to a pregnant population of 37 226 women in the west of Scotland between 1991 and 1992. The combined risk of Down's syndrome pregnancy was reported for each of the 30 084 women who opted for screening. Results — When a threshold risk of 1:220 was used 1523 women (5.1% of the screened population) were assig

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32

Wright, Cam. "The effects of educator attitudes and expectations on the educational programming for children with Down's Syndrome in the context of integration." Queensland Journal of Guidance and Counselling 2 (November 1988): 43–48. http://dx.doi.org/10.1017/s1030316200000078.

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Down's Syndrome has long been associated with mental retardation. This has resulted in expectations of moderate or severe mental retardation in individuals with Down's Syndrome (Hopkins, 1983). Although there has been acceptance of the possibility of variability of attainments, a certain predictability of outcome has been assumed since Down's Syndrome is a condition resulting from known chromosomal abnormalities (Springer &amp; Steele, 1980; Hopkins, 1983).

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Reynolds, T. M. "Atypicality or Specific Screen: Which is Better at Detecting Non-Down's Chromosomal Anomalies?" Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 34, no. 6 (1997): 675–80. http://dx.doi.org/10.1177/000456329703400613.

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I evaluated the value of adding a trisomy 18 screen to routine Down's screening and compared it with the benefits of atypicality screening. I studied 5080 unaffected pregnancies, 144 Down's syndrome and 190 non-Down's syndrome chromosome abnormalities (20 trisomy 13; 79 trisomy 18; 20 Turner's syndrome; 29 other sex chromosome abnormalities; 8 triploidy; and 34 miscellaneous). Using a one in 250 cut off, the Down's screen gave a screen positive rate of 4·07%; addition of atypicality without a trisomy 18 screen gave an extra 0·9% screen positives; trisomy 18 screening without atypicality gave a

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34

Dias, J. Amil, and J. Walker‐Smith. "Down's Syndrome and Coeliac Disease." Journal of Pediatric Gastroenterology and Nutrition 10, no. 1 (1990): 40–43. http://dx.doi.org/10.1002/j.1536-4801.1990.tb09933.x.

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The association of congenital abnormalities and gastrointestinal tract diseases has been described. The coincidence of Down's syndrome and coeliac disease has been occasionally reported, but a clear relation is not definitely established. Reviewing 190 patients with coeliac disease diagnosed at Queen Elizabeth Hospital, London, from 1960 to 1985 an increased incidence of Down's syndrome compared to the natural incidence of this abnormality in the general population was found. The age of the mothers was well below that where a reverse in the incidence of Down's syndrome is expected, and it appe

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35

Spencer, Kevin. "Evaluation of an assay of the free beta-subunit of choriogonadotropin and its potential value in screening for Down's syndrome." Clinical Chemistry 37, no. 6 (1991): 809–14. http://dx.doi.org/10.1093/clinchem/37.6.809.

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Abstract In this study I investigated the analytical and clinical performance of the measurement of the free beta-subunit of choriogonadotropin (hCG) in normal pregnancies and in pregnancies affected by Down's syndrome. Free beta-hCG in maternal serum has been shown to be increased in Down's syndrome-affected pregnancies and is proportionally increased in more cases than is total hCG. This study confirms previous findings of low concentrations of unconjugated estriol and alpha-fetoprotein in maternal serum in Down's syndrome-affected pregnancies. Using a multivariate risk analysis of maternal

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36

Duchoslavová, Lenka. "Down syndrome." Kontakt 9, no. 2 (2007): 416–21. http://dx.doi.org/10.32725/kont.2007.063.

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37

Kinnell, H. G., N. Gibbs, J. D. Teale, and J. Smith. "Thyroid dysfunction in institutionalised Down's syndrome adults." Psychological Medicine 17, no. 2 (1987): 387–92. http://dx.doi.org/10.1017/s0033291700024946.

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SynopsisThis study of 111 institutionalised Down's syndrome subjects and 74 controls found a relatively low risk of hypothyroidism in both groups compared with certain other studies of Down's subjects, which found very high rates of thyroid hypofunction. However, the Down's syndrome group had a significantly raised risk of hypothyroidism (9%), hyperthyroidism (1·8%) and the presence of thyroid microsomal antibodies (29%) compared with the controls and with laboratory reference data. It is recommended that thyroid function testing should be routine in older Down's syndrome subjects, with specia

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Starkey, Hayley, Shelley Bevins, and Simon Bonell. "The role of prospective screening in the diagnosis of dementia in people with Down's syndrome." Advances in Mental Health and Intellectual Disabilities 8, no. 5 (2014): 283–91. http://dx.doi.org/10.1108/amhid-12-2013-0067.

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Purpose – People with Down's syndrome are at increased risk of developing early onset Alzheimer's disease. It has been recommended that all adults with Down's syndrome receive baseline neuropsychological testing for dementia. In certain areas prospective screening of people with Down's syndrome takes place to ensure the early diagnosis of the condition. However, little has been published on the value of this type of screening. The purpose of this paper is to report on a prospective screening programme and asks whether the programme is effective in identifying dementia-related changes in people

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McLaughlin, Martin. "Bipolar Affective Disorder in Down's Syndrome." British Journal of Psychiatry 151, no. 1 (1987): 116–17. http://dx.doi.org/10.1192/bjp.151.1.116.

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40

Raghavan, Ravi, Clare Khin-Nu, Andrew Brown, et al. "Detection of Lewy Bodies in Trisomy 21 (Down's Syndrome)." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 20, no. 1 (1993): 48–51. http://dx.doi.org/10.1017/s0317167100047405.

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ABSTRACT:The presence of cortical senile plaques and neurofibrillary tangles sufficient to warrant a neuropatho-logical diagnosis of Alzheimer's disease is well established in middle-aged individuals with Trisomy 21 (Down's syndrome). In contrast a relationship between Down's syndrome and Lewy bodies, one of the major neuropathological features of Parkinson's disease, has not been previously reported. In a cliniconeuropathological survey of 23 cases of Down's Syndrome, two patients, aged 50 and 56 years respectively, were found to have Lewy body formation in the substantia nigra in addition to

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Pulsifer, Margaret B. "The neuropsychology of mental retardation." Journal of the International Neuropsychological Society 2, no. 2 (1996): 159–76. http://dx.doi.org/10.1017/s1355617700001016.

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AbstractThis critical review examines mental retardation (MR) from a neuropsychological perspective. Competing definitions of MR are discussed and the prevalence is estimated. Descriptions are given of idiopathic MR and the five major identifiable prenatal causes of MR: fetal alcohol syndrome, Down's syndrome, fragile X syndrome, Prader-Willi syndrome, and Angelman syndrome. Similarities and differences among syndromes are examined. Cognitive deficits common to all disorders were in attention, short-term memory, and sequential information processing, whereas language and visuospatial abilities

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Wright, D. E., T. M. Reynolds, and C. M. Donovan. "Assessment of Atypicality: An Adjunct to Prenatal Screening for Down's Syndrome That Facilitates Detection of other Abnormalities." Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 30, no. 6 (1993): 578–83. http://dx.doi.org/10.1177/000456329303000609.

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Current software used for assessment of the risk of Down's syndrome may give misleading risk estimates if applied to other abnormalities. Often the abnormality is reflected in maternal serum α-fetoprotein and human chorionic gonadotrophin levels and is then translated into a low risk for Down's syndrome that may not be recognized as significantly atypical of normality. We regard this as a serious deficiency in the current Down's syndrome risk reporting algorithm, and suggest a modification that allows the problem to be overcome.

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CHOY, KWONG WAI, PO TING TSANG, TAK YEUNG LEUNG, CHI CHIU WANG, and TZE KIN LAU. "THE APPLICATION OF MICROARRAY BASED COMPARATIVE GENOMIC HYBRIDIZATION IN PRENATAL DIAGNOSIS." Fetal and Maternal Medicine Review 19, no. 2 (2008): 119–33. http://dx.doi.org/10.1017/s0965539508002167.

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Microscopic forms of karyotyping and cytogenetic analysis by means of G-banded chromosome analysis and rapid FISH (fluorescencein situhybridization) on amniotic fluids or chorionic villus samples are at present regarded as the gold standard for prenatal diagnosis of chromosomal anomalies. Nevertheless, up to now the resolution of conventional chromosomal analysis was limited to approximately 4–5 Mb and not smaller than 2 Mb for FISH. Thus numerous common microdeletion syndromes are not detectable by conventional karyotyping. In addition, prenatal cells yield lower band resolution by convention

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Haddow, J. E., G. E. Palomaki, G. J. Knight, D. L. Foster, and L. M. Neveux. "Second trimester screening for Down's syndrome using maternal serum dimeric inhibin A." Journal of Medical Screening 5, no. 3 (1998): 115–19. http://dx.doi.org/10.1136/jms.5.3.115.

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Objectives To determine the second trimester Down's syndrome screening performance of maternal serum dimeric inhibin A, both alone and in combination with existing serum markers. Setting A case-control set of serum samples from patients with Down's syndrome (52) and subjects with matched unaffected pregnancies obtained in a previous cohort study before second trimester amniocentesis and karyotyping. The amniocenteses were performed for reasons other than a positive serum screening test result. Methods For each serum from a Down's syndrome pregnancy, five serum samples from pregnancies with a n

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Summers, A. M., S. A. Farrell, T. Huang, C. Meier, and P. R. Wyatt. "Maternal Serum Screening in Ontario Using the Triple Marker Test." Journal of Medical Screening 10, no. 3 (2003): 107–11. http://dx.doi.org/10.1177/096914130301000302.

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Objectives: To summarise the experience and evaluate the performance of the Ontario maternal serum screening (MSS) programme. Methods: This study used information collected in the Ontario MSS database, which contains data on each screened pregnancy. In the Ontario MSS programme, women are screened between 15 and 20 weeks of gestation. The risk cut-off for Down's syndrome was ≥1 in 385 at term and women with a serum alpha-fetoprotein ≥2.2 multiples of the unaffected population median were defined as screen-positive for open neural tube defects. Results: Between 1 October 1993 and 30 September 2

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Lambert-Messerlian, G. M., J. A. Canick, G. E. Palomaki, A. L. Schneyer та G. M. Lambert-Messerlian. "Second Trimester Levels of Maternal Serum Inhibi A, Total Inhibin, α Inhibin Precursor, and Activin in Down's Syndrome Pregnancy". Journal of Medical Screening 3, № 2 (1996): 58–62. http://dx.doi.org/10.1177/096914139600300202.

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Objective –To determine the levels of various biochemical forms of the placental protein, inhibin (total inhibin, inhibin A, and α inhibin precursor) and activin in maternal serum samples from fetal Down's syndrome, and to determine which of these analytes most effectively identifies samples from affected pregnancies. Methods –Maternal serum samples were collected from 100 unaffected pregnancies and 20 cases of fetal Down's syndrome during gestational weeks 15–20 for routine triple marker screening, and were stored frozen after clinical assay. Levels of inhibin A, total inhibin, α inhibin prec

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Frid, Christina, Gudrun Björkhem, Anders Jonzon, Jan Sunnegårdh, Göran Annerén, and Bo Lundell. "Long-term survival in children with atrioventricular septal defect and common atrioventricular valvar orifice in Sweden." Cardiology in the Young 14, no. 1 (2004): 24–31. http://dx.doi.org/10.1017/s1047951104001052.

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Background:The survival for patients with atrioventricular septal defect has improved markedly over the last decades and, during the same period, the survival of children with Down's syndrome has also increased. The aim of our study was to investigate long-term survival in patients having atrioventricular septal defect with common valvar orifice, but without associated significant congenital heart defects, in the setting of Down's syndrome, comparing the findings to those in chromosomally normal children with the same malformation.Methods and results:In a population-based retrospective study,

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van Montfrans, Joris M., Petra S. M. Bakker, Lyset T. M. Rekers-Mombarg, Mirjam M. van Weissenbruch, and Cornelis B. Lambalk. "Birth Weight Corrected for Gestational Age is Related to the Incidence of Down's Syndrome Pregnancies." Twin Research 4, no. 5 (2001): 318–20. http://dx.doi.org/10.1375/twin.4.5.318.

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AbstractThree recent studies reported that early depletion of the primordial follicle pool is likely to be an independent risk factor for Down's syndrome pregnancies. The size of the primordial follicle pool at birth is determined by oogenesis and by the rate of follicle atresia during the intra uterine period. Since intra uterine growth retardation was reported to be associated with a significantly reduced primordial follicle pool at birth, we investigated the possibility of a relation between low birth weight for gestational age and the risk of a Down's syndrome pregnancy. In a case control

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Nanavaty, Mayank A., and Hala Ali. "Clinical Dilemmas in the Management of a Monocular Patient with Down's Syndrome, Dementia, Advanced Keratoconus, and a Mature Cataract." International Journal of Keratoconus and Ectatic Corneal Diseases 5, no. 2 (2016): 81–84. http://dx.doi.org/10.5005/jp-journals-10025-1126.

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ABSTRACT There are reports on the successful management of mild to moderate keratoconus in patients with Down's syndrome. However, when Down's syndrome is coexistent with Dementia, poor general health, and very advanced keratoconus in only one eye, then clinicians may face challenges at all stages from diagnosis, treatment, and follow-up. Our case is one such example of a combination of Down's syndrome, Dementia, poor general health, and very advanced keratoconus with a white cataract in the only functioning eye. This report highlights the dilemmas which were encountered and learning points on

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Loveland, Katherine A., Belgin Tunali-Kotoski, Deborah A. Pearson, Kristin A. Brelsford, Juliana Ortegon, and Richard Chen. "Imitation and expression of facial affect in autism." Development and Psychopathology 6, no. 3 (1994): 433–44. http://dx.doi.org/10.1017/s0954579400006039.

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AbstractThis study examined elicited (posed) affective expressions in children, adolescents, and young adults with autism (N = 18) or Down's syndrome (N = 24). Subjects were asked to (a) imitate five modeled expressions (Imitation task) and (b) produce five labeled expressions (Expression task). Subjects with autism produced recognizable expressions in both tasks, but they produced fewer than did subjects with Down's syndrome when target emotions were labeled but not modeled (Expression). Imitation and Expression tasks were equally difficult for subjects with autism, but subjects with Down's s

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