limb deficiencies
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eLife ◽  
2021 ◽  
Vol 10 ◽  
Author(s):  
Roni O Maimon-Mor ◽  
Hunter R Schone ◽  
David Henderson Slater ◽  
Aldo A Faisal ◽  
Tamar R Makin

The study of artificial arms provides a unique opportunity to address long-standing questions on sensorimotor plasticity and development. Learning to use an artificial arm arguably depends on fundamental building blocks of body representation and would therefore be impacted by early-life experience. We tested artificial arm motor-control in two adult populations with upper-limb deficiencies: a congenital group - individuals who were born with a partial arm, and an acquired group - who lost their arm following amputation in adulthood. Brain plasticity research teaches us that the earlier we train to acquire new skills (or use a new technology) the better we benefit from this practice as adults. Instead, we found that although the congenital group started using an artificial arm as toddlers, they produced increased error noise and directional errors when reaching to visual targets, relative to the acquired group who performed similarly to controls. However, the earlier an individual with a congenital limb difference was fitted with an artificial arm, the better their motor control was. Since we found no group differences when reaching without visual feedback, we suggest that the ability to perform efficient visual-based corrective movements is highly dependent on either biological or artificial arm experience at a very young age. Subsequently, opportunities for sensorimotor plasticity become more limited.


2021 ◽  
Author(s):  
John Corwin Fyfe ◽  
Abdullah Mahmood ◽  
Jeremy Hix ◽  
Bryden J. Stanley ◽  
Brian C. Schutte

Abstract Oro-facial clefts are one of the most common birth defects in humans, most are non-syndromic, and few have established molecular diagnoses. Here we report the morphology and genetic transmission of isolated cleft palate in a naturally occurring dog model. Palate morphology was evaluated grossly, by microcomputed tomography, and by histologic examination of serial coronal sections. In repeated matings of a clinically normal sire/dam pair, 18% (12/68) of live-born pups had full-length cleft of the secondary palate with no other abnormalities. At the gestational stage of normal palate fusion, palate shelves of affected fetuses were above the tongue but did not meet at midline. Mandibles were normal, and oral epithelium and periderm were intact. Genetic transmission was determined in experimental backcross matings of surgically repaired affected dogs with a normal parent, which produced 20 cleft, 11 male and 9 female, and 24 normal-palate pups. Furthermore, all offspring of matings between affected dogs had cleft palate. These data were as expected under the hypothesis of autosomal recessive transmission of the cleft palate trait ([1 df, N = 44] Χ2 = 0.36, p = 0.55). About half of cleft offspring produced in backcross matings of which the dam had cleft palate, also exhibited various transverse limb deficiencies. No limb deficiencies occurred in backcross offspring of a dam with normal palate, suggesting a possible maternal effect. This dog family constitutes a large animal model of non-syndromic isolated cleft palate coincident with developmental limb deficiency.


Author(s):  
Nirmal Raj Gopinathan ◽  
Pratik M. Rathod

2021 ◽  
Vol 104 (Suppl. 1) ◽  
pp. S77-S80

Background: Epilepsy in pregnant women was related with many complications by itself. Antiepileptic drugs were prescribed for decreasing the frequent and severity of seizure, they causes malformation in the fetus. Objective: To assessing antiepileptic drugs in women with epilepsy during pregnancy in Srinagarind Hospital, Faculty of Medicine, Khon Kaen University, Thailand. The second objective was to review abnormal congenital malformation effect of antiepileptic drugs, specialty in type of drug used in the hospital. Materials and Methods: A retrospective study was conducted in all pregnant women who using antiepileptic drugs during 2015 to 2019. Review the literature were searched from online publishing report. Results: The preliminary data from the hospital showed 7 AEDs used in pregnant period. The AEDs which highly used including phenobarbital, levetiracetam, and valproic acid, respectively. Co-medication was folic acid, ranitidine, and multivitamin. The review literation data showed valproic acid or valproate was the high risk drug inducing of congenital malformation in children who received AEDs during grown in uterus. The major congenital malformation composed of orofacial clefts, neural tube defects, and limb deficiencies, and usually found in older AEDs than new drug group. Conclusion: AEDs or epilepsy causes increases the risk of many complications in both maternal and child. It is challenging to obstetricians, neurologist, and pediatric doctors for well co-operation to management of WWE who intake AEDs during pregnant for good outcomes of maternal and her child at post-partum period. Keywords: Women with epilepsy (WWE), Pregnancy, Antiepileptic drugs, Epilepsy clinic Srinagarind hospital


Author(s):  
Johanna Syvänen ◽  
Yrjänä Nietosvaara ◽  
Saija Hurme ◽  
Antti Perheentupa ◽  
Mika Gissler ◽  
...  

2021 ◽  
Vol 30 ◽  
Author(s):  
Nathalia Zorzo Costa ◽  
Carlise Rigon Dalla Nora ◽  
Lucia Helena Donini Souto ◽  
Franciela Delazeri Carlotto ◽  
Richard dos Santos Afonso ◽  
...  

ABSTRACT Objective: to assess whether maternal and paternal exposure to toxic agrochemicals throughout life causes congenital malformations. Method: a scoping review was carried out on the PUBMED, CINAHL, EBSCO, MEDLINE, LILACS, SciELO, BDENF, Web of Science and ATHENA databases between August and September 2019 and updated in December 2020. A cohort and case control study were included, which addressed the effects of parents' exposure throughout their lives to toxic agrochemicals which caused congenital malformation outcomes. Results: the review covered 32 studies published between 2005 and 2020. The main malformations presented are related to the reproductive system, nervous system, musculoskeletal system, transverse limb deficiencies, digestive system and other malformations such as fetal growth restrictions, cleft palate and congenital heart disease. The most investigated toxic agrochemicals in the studies were the herbicides represented by atrazine. Conclusion: maternal and paternal exposure to toxic agrochemicals can be associated with greater chances of children being born with congenital malformations, especially those related to the male reproductive system.


Author(s):  
S Prathyusha Kavipurapu ◽  
Madhuri Maganthi ◽  
LG Shyam Sundar ◽  
S Ramya

One in two thousand neonates suffer from congenital limb deficiencies. Fibular hemimelia, a birth defect, has an estimated incidence of 5.7 to 20 cases per 1 million births. Fibular Aplasia, Tibial Campomelia and Oligo-Syndactyly (FATCO) syndrome is one such which is a triad of fibular hemimelia (aplasia/hypoplasia of fibula), tibial campomelia (bending of tibial bone) and oligo syndactyly. It is a syndrome of unknown genetic basis and inheritance. Very few cases on this condition have been reported so far. This article reports two cases on this condition, wherein the babies had considerable variability of limb malformations. The first is a newborn with FATCO, and the second is a two-month-old male infant with FATCO associated with right focal femoral deficiency. In view of paucity of the cases, there is a need to report every case which may help in creating awareness and a standardised management approach.


2021 ◽  
pp. 1-10
Author(s):  
Nima Dehghansai ◽  
Veronica Allan ◽  
Ross A. Pinder ◽  
Joe Baker

Research has recently examined the role of impairment onset on athlete development in Paralympic sport; however, less is known on how impairment type can impact athlete sporting pathways. In this study, 187 Australian and Canadian Paralympic sport athletes completed a survey. Participants were divided into the following four groups: impaired muscle power (n = 79); ataxia, athetosis, and hypertonia (n = 44); limb deficiencies (n = 42); and other physical impairments (n = 22). Mechanisms of initiation into Paralympic sport varied between groups with some drawn to sport through friends and/or family (i.e., limb deficiencies and other physical impairments groups) while others through talent search programs (i.e., ataxia, athetosis, and hypertonia group) or health care professionals/rehabilitation centers (i.e., impaired muscle power group). Results revealed no significant differences between groups in the chronological age or absolute years for achieving milestones. However, considering the high variability within the sample, more research is necessary to better understand how athletes with different physical impairments navigate through their sporting careers.


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