Extremitätenfehlbildungen II („limb reduction defects“, Hand- und Fußfehlbildungen)

2008 ◽  
pp. 245-248
Keyword(s):  
2021 ◽  
Vol 11 (8) ◽  
pp. 991
Author(s):  
Christopher Copeland ◽  
Mukul Mukherjee ◽  
Yingying Wang ◽  
Kaitlin Fraser ◽  
Jorge M. Zuniga

This study aimed to examine the neural responses of children using prostheses and prosthetic simulators to better elucidate the emulation abilities of the simulators. We utilized functional near-infrared spectroscopy (fNIRS) to evaluate the neural response in five children with a congenital upper limb reduction (ULR) using a body-powered prosthesis to complete a 60 s gross motor dexterity task. The ULR group was matched with five typically developing children (TD) using their non-preferred hand and a prosthetic simulator on the same hand. The ULR group had lower activation within the primary motor cortex (M1) and supplementary motor area (SMA) compared to the TD group, but nonsignificant differences in the primary somatosensory area (S1). Compared to using their non-preferred hand, the TD group exhibited significantly higher action in S1 when using the simulator, but nonsignificant differences in M1 and SMA. The non-significant differences in S1 activation between groups and the increased activation evoked by the simulator’s use may suggest rapid changes in feedback prioritization during tool use. We suggest that prosthetic simulators may elicit increased reliance on proprioceptive and tactile feedback during motor tasks. This knowledge may help to develop future prosthesis rehabilitative training or the improvement of tool-based skills.


Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 138
Author(s):  
Anna Materna-Kiryluk ◽  
Katarzyna Wisniewska ◽  
Barbara Wieckowska ◽  
Jolanta Wierzba ◽  
Anna Jazdzewska ◽  
...  

Data from the Polish Registry of Congenital Malformations (PRCM) suggest that the prevalence of limb reduction defects (LRDs) in some Polish regions is significantly higher in comparison to that reported in the European Surveillance of Congenital Anomalies (EUROCAT) registry, but specific risk factors are still unknown. The objectives of this study were two-fold: to detect risk factors linked to isolated LRDs among Polish natives and to search for geospatial clusters of isolated LRDs to identify high-risk areas across the country. Among the 2,939,001 births accounted for in the PRCM, we determined that there were 852 children with distinct LRDs. Our data demonstrate that lower birth weight, prematurity, and maternal smoking history are strongly associated with isolated LRDs. Furthermore, our investigation pointed to various additional risk factors for isolated LRDs, including paternal education, gestational hypertension, upper respiratory tract infections, and exposure to anti-inflammatory drugs in the first trimester of pregnancy. We did not recognize statistically significant spatial or spatiotemporal clusters over the area of Poland using Kulldorff’s scan. Our study strengthens the hypothesis that maternal factors have an integral role in the etiology of isolated LRDs.


Diagnostics ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. 142
Author(s):  
Anca Maria Panaitescu ◽  
Simona Duta ◽  
Nicolae Gica ◽  
Radu Botezatu ◽  
Florina Nedelea ◽  
...  

Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth retardation, upper limb reduction defects, hirsutism, and developmental delay. Non-classical phenotypes make this condition heterogeneous. Although CDLS is a heterogeneous clinical and genetic condition, clear diagnostic criteria have been described by specialist consensus. Many of these criteria refer to features that can be seen on prenatal ultrasound. The aim of this paper is twofold: to present the ultrasound findings in fetuses affected by CDLS syndrome; to discuss the recent advances and the limitations in the ultrasound and genetic prenatal diagnosis of CDLS. Our review aims to offer, apart from the data needed to understand the genetics and the prenatal presentation of the disease, a joint perspective of the two specialists involved in the prenatal management of this pathology: the fetal medicine specialist and the geneticist. To better illustrate the data presented, we also include a representative clinical case.


2021 ◽  
Author(s):  
Marco Camaiti ◽  
Alistair R. Evans ◽  
Christy A. Hipsley ◽  
David G. Chapple

1997 ◽  
Vol 17 (1) ◽  
pp. 77-80 ◽  
Author(s):  
MIN MIN CHOU ◽  
SHENG KAI LIN ◽  
ESTHER SHIH CHU HO

2020 ◽  
Author(s):  
Albert S Reece ◽  
Gary Kenneth Hulse

Reports of major limb defects after prenatal cannabis exposure (PCE) in animals and of human populations in Hawaii, Europe and Australia raise the question of whether the increasing use of cannabis in USA might be spatiotemporally associated with limb reduction rates (LRR) across USA. Geotemporospatial analysis conducted in R. LRR was significantly associated with cannabis use and THC potency and demonstrated prominent cannabis-use quintile effects. In final lagged geospatial models interactive terms including cannabinoids were highly significant and robust to adjustment. States in which cannabis was not legalized had a lower LRR (4.28 v 5.01 /10,000 live births, relative risk reduction = -0.15, (95%C.I. -0.25, -0.02), P=0.021). 37-63% of cases are estimated to not be born alive; their inclusion strengthened these associations. Causal inference studies using inverse probabilty-weighted robust regression and e-values supported causal epidemiological pathways. Findings apply to several cannabinoids, are consistent with pathophysiological and causal mechanisms, are exacerbated by cannabis legalization and demonstrate dose-related intergenerational sequaelae.


2020 ◽  
pp. 1-19
Author(s):  
Simona Vyniautaitė

Based on dialectometric methods, the article discusses the geolect of Plungė in terms of regressive assimilation of vowels i, u. The study material consists of about 9 hours of audio recordings, 57 sentences, recited by nine presenters of younger, middle and older generations. 6 words were chosen in which regressive assimilation of vowels can take place, i. e., the words with vowels i, u in accented, unaccented and shifted accent positions. Quantitative analysis of the material (sentences read by the presenters) was performed with the tools of the computer program Gabmap. Pseudo maps of networks, reference points, cluster analysis, as well as differential dialectal features were analyzed. The analysis performed using dialectometry methods shows that differences in limb reduction, word stem, consonant softening become apparent, but in many cases regressive assimilation of vowels i, u becomes the main variable feature. The operation/inaction of the regressive assimilation of vowels i, u is greatly influenced by accent. When vowels are accented, presenters of all generations pronounce them without regressive vowel assimilation. When the vowel i is unaccented, it is assimilated, and the vowel u is spelled narrowly by only a third of the presenters. Dual behavior exists in cases where vowels receive a shifted accent. The pronunciation of both vowels is approximate. Maintaining the main distinguishing feature of the residents of Plungė from the dialect of the residents of Telšiai, although inconsistent, would allow predicting that the linguistic dialect peculiarity of this area could compete with the language code of Telšiai – based on the Samogitian regiolect – or whether the regiolect itself would be / become dual-core (more detailed research based on a multi-faceted research model is needed to confirm this statement). The effect of regressive assimilation in the Plungė dialect, in the geolectic zone in general, can be both a proof of resemblance to the northern Samogitian Telšiai residents and a sign of a decrease in the importance of assimilation as a distinctive feature of the dialects.


2014 ◽  
Vol 297 (3) ◽  
pp. 482-495 ◽  
Author(s):  
Pedro M. Sales Nunes ◽  
Felipe F. Curcio ◽  
Juliana G. Roscito ◽  
Miguel T. Rodrigues
Keyword(s):  

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