Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning

Angelman syndrome (AS) is caused by several genetic mechanisms that impair the expression of maternally‐inherited UBE3A through deletions, paternal uniparental disomy (UPD), UBE3A pathogenic variants, or imprinting defects. Current methods of differentiating the etiology require molecular testing, which is sometimes difficult to obtain. Recently, computer‐based facial analysis systems have been used to assist in identifying genetic conditions based on facial phenotypes. We sought to understand if the facial‐recognition system DeepGestalt could find differences in phenotype between molecular subtypes of AS. Images and molecular data on 261 individuals with AS ranging from 10 months through 32 years were analyzed by DeepGestalt in a cross‐validation model with receiver operating characteristic (ROC) curves generated. The area under the curve (AUC) of the ROC for each molecular subtype was compared and ranked from least to greatest differentiable phenotype. We determined that DeepGestalt demonstrated a high degree of discrimination between the deletion subtype and UPD or imprinting defects, and a lower degree of discrimination with the UBE3A pathogenic variants subtype. Our findings suggest that DeepGestalt can recognize subclinical differences in phenotype based on etiology and may provide decision support for testing.     

Retrograde tracing studies of subdivisions of the orbicularis oculi muscle in the rhesus monkey

Functionally and anatomically, the orbicularis oculi (OO) muscle can be subdivided in a pretarsal, a preseptal, and an orbital portion. In the rhesus monkey, fluorescent and neuronal retrograde tracing experiments were performed in the pretarsal or the orbital portion of the OO muscle, or both, using fast blue, diamidino yellow, and wheat germ agglutinin-horseradish peroxidase as tracers. The preseptal portion was not investigated because of close anatomical relationships to the other portions. It was found that motoneurons innervating the OO muscle are located exclusively within the intermediate subnucleus of the motor facial nucleus. The upper pretarsal motoneurons show a specific distribution in the dorso-rostral border area of the intermediate subnucleus, representing a dome-like organization, while lower pretarsal motoneurons are situated more ventrally in the adjacent area. The pretarsal motoneurons are all located dorsally in the rostral half and the upper part of the caudal half of the intermediate subnucleus. The upper pretarsal portion is subserved by about one third of the total intermediate motoneuron population. The size of the upper pretarsal motoneurons is similar to that of the motoneurons of the lower pretarsal portion of the OO muscle and falls, for the vast majority, into the large motoneuronal range. Motoneurons belonging to the upper and lower orbital portions are located ventrally and are more randomly distributed in the rostral half of the intermediate subnucleus. The size of orbital motoneurons varies from small to large. The large fraction of pretarsal motoneurons may reflect the specific function of the upper pretarsal portion during rapid and highly coordinated movements of the eyelids in different types of blinking. Received: 18 September 1997 / Accepted: 13 March 1998     

Localization of motoneurons innervating the muscle of the hard palate in the rat: A horseradish peroxidase study

Using the horseradish peroxidase-technique, the myotopical arrangement of motoneurons innervating the transverse palatine muscle in the rat was studied. It appears that this muscle is innervated by axons from cells located in the ipsilateral intermediate subnucleus of the facial motor nucleus. By nerve transection and electrophysiological experiments it is shown that the transverse palatine muscle is innervated by the inferior as well as the superior buccolabial branch of the facial nerve.     

Autoimmune diseases in myelodysplastic syndrome favors patients survival: A case control study and literature review

Background

We conducted a monocentric retrospective study of patients with myelodysplastic syndromes (MDS) and autoimmune or inflammatory disorders (AIMs) and a literature review. We analyzed the association with subgroups of the WHO 2016 MDS classification and patient's survival in a case control study. Risk factors associated with survival were analyzed by uni- and multivariate analysis.

面神经颞支的应用解剖学研究

目的:为预防额颞区手术和翼点入路的颅内手术损伤面神经颞支提供解剖学资料。方法:60侧成人头部标本,解剖观测面神经颞支的分支、行程及层次。结果:(1)面神经颞支多为2~4支,占95.00％(57侧)。(2)面神经颞支离开腮腺上缘后向前上走行,从颧弓浅面跨过进入额颞区,后走行于浅筋膜和颞筋膜浅层之间;在腮腺上缘及颧弓上缘处面神经颞支的最后1支距耳屏尖的距离分别为(23.79±0.27)mm和(30.67±0.37)mm。结论:面神经颞支入肌前在颧弓以下一段位置较深、以上表浅。从耳屏尖向前23mm范围内无该神经通过,为手术安全区。     

Psychoemotional manifestations in hippocampectomized rats

The effects of lesioning of the dorsal hippocampus on the psychoemotional state of Wistar rats were studied. Hippocampal lesions did not affect the learning process, but affected mainly the pattern of psychoemotional manifestations in all animals regardless of the typology of higher nervous activity. All animals showed reductions in the extremes of types of passive and active stress reactions. Individual effects depended on the behavioral phenotypes of the animals. Hippocampal lesions in rapidly learning rats (10%) led to sharp decreases in irritability (active/passive = 0.35/0.5 instead of 1.0/0.4), while passive-defensive manifestations were not altered. In slowly learning animals (30%), hippocampal lesions were not accompanied by qualitative changes in the patterns of psychoemotional manifestations, while non-learning rats (60%) showed decreases in passive and increases in active manifestations (active/passive = 0.45/1.4 instead of 0.3/1.9). It is suggested that the hippocampus is involved in producing psychoemotional reactions, individual patterns of which depend on the morphofunctional characteristics of the system responsible for organizing the psychoemotional state.Translated from Rossiiskii Fiziologicheskii Zhurnal imeni I. M. Sechenova, Vol. 89, No. 7, pp. 868–878, July, 2003.     

Ring chromosome 15 and 15qs+ mosaic: Clinical and cytogenetic behaviour spanning 29 years

A phenotypic female with mild mental retardation, minor facial anomalies, and short stature has been evaluated clinically and cytogenetically over 29 years. At age 59, she remains physically well and shows no signs of dementia. Cytogenetic analysis, performed on peripheral blood specimens on 10 occasions between 1961 and 1990, showed mosaicism with one cell line containing a large stable ring (15) chromosome and another cell line without the ring but with a 15qs +. The different cell lines remained constant. The case provides information on the natural history of the ring chromosome 15 syndrome.     

面神经锥体段的解剖学及其临床意义

在80侧成人颞骨干标本上,对面神经锥体段的埋藏位置及深度,面神经与面神经隐窝、鼓室窦三者之间的关系及其变异类型进行了应用解剖学研究。提出了耳科后鼓室进手术路中对面神经锥体段的予测方法。经90例手术验证有实用价值。     

A case of de novo interstitial deletion of chromosome 9(p12p13)

The present paper describes a girl with a small de novo deletion of chromosome 9(p12p13). This deletion has not been published previously. The deleted fragment is clearly outside the region involved in the so-called deletion 9p syndrome. The patient had mild dysmorphic features and feeding problems during the first weeks of life, but is now developing well. Because of the lack of severe clinical features in this patient, we speculate that the deletion may be prevalent in other patients who have no clinical indication for chromosome investigation.     

Male with type II autosomal recessive cutis laxa

A 5-year-old boy, who had pre- and postnatal growth retardation, delayed motor development, cutis laxa, delayed closure of large fontanels, congenital hip dislocation and characteristic facies, is described. Disorders with cutis laxa are now divided into five types. The patient had clinical manifestations very similar to those of cutis laxa with bone dystrophy (type II autosomal recessive cutis laxa). Eighteen patients have been reported, the ratio of males to females being 5 to 14. This is the fifth case of this disorder occurring in a male, which provides further evidence for autosomal recessive inheritance.