article{e4545f11-fcca-422e-8307-a31e151cdeb0, abstract = {To ascertain the epigenomic features, i.e., the methylation, non-coding RNA, and gene expression patterns, associated with gain of i(12p) in Pallister-Killian syndrome (PKS), we investigated single cell clones, harboring either disomy 12 or tetrasomy 12p, from a patient with PKS. The i(12p)-positive cells displayed a characteristic expression and methylation signature. Of all the genes on 12p, 13% were overexpressed, including the ATN1, COPS7A, and NECAP1 genes in 12p13.31, a region previously implicated in PKS. However, the median expression fold change (1.3) on 12p was lower than expected by tetrasomy 12p. Thus, partial dosage compensation occurs in cells with i(12p). The majority (89%) of the significantly deregulated genes were not situated on 12p, indicating that global perturbation of gene expression is a key pathogenetic event in PKS. Three genes-ATP6V1G1 in 9q32, GMPS in 3q25.31, and TBX5 in 12q24.21-exhibited concomitant ...

Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects.. Most babies with Pallister-Killian mosaic syndrome are born with significant hypotonia, which can cause difficulty breathing and problems with feeding. Hypotonia also interferes with the normal development of motor skills such as sitting, standing, and walking. About 30 percent of affected individuals are ultimately able to walk without assistance. Additional developmental delays result from intellectual disability, which is usually severe to profound. Speech is often limited or absent in people with this condition.. Pallister-Killian mosaic syndrome is associated with a distinctive facial appearance that is often described as coarse. Characteristic ...

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手腳扭傷，撞瘀手腳當然去睇跌打,去理療中心敷藥。由跌打師傅斷症後，配合推拿手法進行跌打程序，才可以把握保健黃金的時間將痛楚減到最低。跌打幾耐先會好？治療得當，最快一帖跌打藥膏，24小時內便可以康復了。 但是，找趺打師傅太心急的話，容易忽略以下10件事，導致身體情況惡化！下次看跌打/鐵打前，記得停一停，諗一諗！....

跌打中醫整脊正骨復位針灸拔罐痛症治療中心 - 中元堂（旺角醫舘）整脊正骨復位痛症治療中心介紹 │中元堂,不少香港人深受身體痛症困擾，本中心是一間專業痛症治療中心，提供即時痛症舒緩，骨傷正骨復位服務，即是以前稱之為【跌打】，俗稱鐵打的手法推拿理療。 常見痛症例如突然跌傷，拉傷，常見的筋骨扭傷，骨傷，舊患，長期腰痛，腰膝蓋踝勞損,腰椎間盤痛等等的痛症，推拿手法可以針對酸痛紅腫的部份處理，即時消腫止痛，幫助恢復健康。長期因為姿勢不良，運動外傷，先天遺傳等等的骨骼移位，可能自己不先知，建議以正骨手法及早糾正，傷勢嚴重不能走動者可以預約【跌打夜診】服務。本中心服務如下：骨傷手法理療(俗稱跌打)正骨復位痛症治療拔罐針灸

椎間盤突出,非椎間盤突出導致的腰背部,頸部疼痛,坐骨神經痛,尾椎小關節綜合症,椎管狹窄症,脊椎側彎,姿勢不良,背部手術失敗症,頭痛,頸痛,肩週炎,腰背痛,脊柱側彎症,坐骨神經痛,膝痛,足踝痛,腳痛,骨刺,手腳麻痺,運動創傷,職業性損傷. 觀塘 ...

針法是把毫針刺入患者身體某一穴位，運用捻轉與提插等針刺手法來治療疾病；灸法是把燃燒著的艾絨按一定穴位熏灼皮膚，利用熱的刺激來治療疾病。針灸由針和灸構成，是中醫學的重要組成部分之一，其內容包括針灸理論、腧穴、針灸技術以及相關器具。在形成、應用和發展的過程中，具有鮮明的中國民族文化與地域特徵，是基於中國民族文化和科學傳統產生的寶貴遺產。中醫針灸的作用涉及到中醫針灸調節內分泌、愛民中醫針灸減肥等具體領域。. 中醫拔罐療法又稱角法，拔罐通過物理的刺激和負壓人為造成毛細血管破裂淤血，調動人體修復功能，及壞死血細胞吸收功能，能促進血液循環，激發精氣，調理氣血，達到提高和調節人體免疫力的作用。. ...

你知道為什麼中國人有睇【跌打】的習慣嗎？【跌打】，又俗稱鐵打，是中國傳統中醫的其中一種利用跌打藥，跌打藥粉，跌打敷藥，加上中醫推拿的治療方法。優點是以推拿按摩手法而促進康復，藥帖直接接觸外皮,所以見效快，大部份時候不須要食藥，而且不需要以手術界入便可康復。 ...

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In this article, we will share on a rare form of congenital cataract known as cerulean cataract.. Cerulean cataract (also known as blue-dot cataract) occurs where there are blue-white opacities in the lens cortex (middle layer of the lens). It can develop during childhood or occur at birth (congenital). The cause of cerulean cataract is due to mutation of several genes. It is of autosomal dominant inheritance (i.e. an affected individual has a copy of the mutant gene and a normal gene on a pair of non-sex chromosomes). The cataract can develop in 1 or both eyes and is progressive. Visual acuity is well-preserved, and surgery is usually not required before adult life.. Infants with cerulean cataract may be asymptomatic depending on the severity of the opacities. If severe, complications such as nystagmus (rapid involuntary movement of the eyes) and amblyopia (lazy eye) can develop. Both male and female can be equally affected. Family history of congenital cataract is one of the risk ...

TY - JOUR. T1 - The phenotypic spectrum of trisomy 2. T2 - Report of two new cases. AU - Mihci, Ercan. AU - Velagaleti, Gopalrao V.N.. AU - Ensenauer, Regina. AU - Babovic-Vuksanovic, Dusica. PY - 2009/10/1. Y1 - 2009/10/1. N2 - We describe two cases of trisomy 2. The first case is a child with mosaic trisomy 2 who presented with mental retardation, multiple congenital anomalies, and dysmorphic findings similar to Pallister-Killian syndrome. The second case was an acardiac and acranial fetus with complete trisomy 2. We review the phenotypic spectrum associated with trisomy 2. Clin Dysmorphol 18:201-204.. AB - We describe two cases of trisomy 2. The first case is a child with mosaic trisomy 2 who presented with mental retardation, multiple congenital anomalies, and dysmorphic findings similar to Pallister-Killian syndrome. The second case was an acardiac and acranial fetus with complete trisomy 2. We review the phenotypic spectrum associated with trisomy 2. Clin Dysmorphol 18:201-204.. KW - ...

Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p. Wide phenotypic variability in PKS has been reported, ranging from pre-to perinatal death due to multiple congenital anomalies, especially diaphragmatic hernia, and classic phenotypes including seizures, severe developmental delay, macrosomia at birth, deafness, and distinct dysmorphic features, such as coarse face, temporal alopecia, a small nose with anteverted nostrils, long philtrum, and hypo−/hyper- pigmented streaks on the skin. Karyotypes obtained from cultured peripheral lymphocytes of 13 cases, who were diagnosed as PKS, were normal, while karyotypes obtained from cultured skin samples and buccal mucosa revealed the supernumerary mosaic i(12p). Mosaic karyotype was found in both fibroblast and buccal mucosa in 14 of 15 patients in our series,

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Tetrasomy for the short arm of chromosome 12 (Pallister-Killian syndrome) is an uncommon mosaic aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormalities or following karyotyping for maternal age and other causes. In this syndrome the chromosome abnormalities, isochromosome is present in amniocyte with a much greater percentage than fetal lymphocyte. The most consistent reported prenatal ultrasound findings for tetrasomy 12p include polyhydramnios with short femurs and a diaphragmatic hernia. We report a case identified by prenatal karyotyping diagnosis ...

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14-year-old Argentine-American songwriter Pilar Victoria has shared her brand new single I Left A Party For You today. The new track arrives via Platoon today with an official video and is taken from Pilars debut EP, expected early next year.https://youtu.be/cgzLBNFiun0Pilar Victoria is far from your average 14-year-old.

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Although I wrote these notes down, they are not my words but the words of various art professors who will remain nameless, because I cannot recall who said what during various art classes from years ago. Neither can I remember what I might have thought at the time that these words were being spoken, but I did indeed write them down perhaps because I thought them valid, or because I thought them odd. Who knows? What I do know is that as I looked through them today, I found some to be rather narrow-minded, but amusing nevertheless ...

Naughty is the manifestation of a poem I originally composed from a collage of Spanish words (some Mexicanismos). I found the words appealing for their crispness, i.e., cachivaches, cuchicheo, berrinches, chiflada, chiflete, metiche, etc. An audio track with the poem read in Spanish (in doll-voice) is part of the interactive piece. The poem was loosely translated to English and written on Naughtys face to convey the essence of her tale ...

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