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Elements of topology and homology
Published in Rodrigo Rojas Moraleda, Nektarios A. Valous, Wei Xiong, Niels Halama, Computational Topology for Biomedical Image and Data Analysis, 2019
Rodrigo Rojas Moraleda, Nektarios A. Valous, Wei Xiong, Niels Halama
Example: Consider (section 1.6.2) the problem of obtaining the boundary of a 2-simplex σ spanned by the vertices of the triangular face of Fig. 1.2ivc. In this case, Z1 is comprised of the cycle .
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Clinical features (severe forms): generalised osteoporosis, fracturesshort limbs, oft en bowed long boneslarge, soft skull, wide fontanellesbarrel chest, callus formation (ribs)hyperlaxityblue sclerae, prominent eyes, small beaked nose, triangular faceincreased nuchal thickness may be seen at 12 weeks’ gestationsome have dentinogenesis imperfecta.
Noonan Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Noonan syndrome typically manifests as characteristic facies (broad/high forehead, hypertelorism, epicanthic folds, downward-slanting palpebral fissures, low-set posteriorly rotated ears with a thick helix, high-arched palate, micrognathia, short neck with excess nuchal skin, low posterior hairline, coarse or myopathic face in childhood, triangular face with age, prominent eyes, ptosis, thick lips with prominent nasolabial folds, marked webbing or prominent trapezius), short stature, congenital heart defect (pulmonary valve stenosis with dysplastic leaflets [50%], hypertrophic obstructive cardiomyopathy with asymmetrical septum hypertrophy [20%], atrial and ventricular septal defects [10%], persistent ductus arteriosus [3%], branch pulmonary artery stenosis, and tetralogy of Fallot), broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, broad thorax, large inter-nipple distance, cryptorchidism, coagulation defect, lymphatic vessel dysplasia (hypoplasia, or aplasia, leading to generalized lymphedema, peripheral lymphedema, pulmonary lymphangiectasia, or intestinal lymphangiectasia, 20%), abnormal pigmentation (pigmented nevi [25%], cafe-au-lait spots [10%], and lentigines [3%]), ocular abnormalities (strabismus [48%–63%], refractive errors [61%], amblyopia [33%], nystagmus [10%]), developmental delay (delay in puberty onset and average bone age by 2 years, but normal female fertility), mild intellectual disability (language impairment, mean IQ of 85), orthopedic abnormalities (cubitus valgus [50%], radioulnar synostosis [2%], clinobrachydactyly [30%], joint hyperextensibility [50%], talipes equinovarus [12%]), urinary tract malformations (pyeloureteral stenosis and/or hydronephrosis, 10%), hearing loss (due to otitis media), behavioral problems (clumsiness, fidgety or stubborn spells, echolalia, irritability, mild motor delay [due to muscular hypotony]), horseshoe kidney, thrombocytopenia, feeding difficulty secondary to pylorospasm, respiratory failure with pulmonary capillaritis and vasculitis, and eightfold increased risk in children and young adults for cancers (e.g., dysembryoplastic neuroepithelial tumors, neuroblastoma, rhabdomyosarcoma, acute lymphoblastic leukemia, and JMML (Figures 93.1 and 93.2) [2,17–25].
Topographical data analysis to identify high-density clusters in stroke patients undergoing post-acute rehabilitation
Published in Topics in Stroke Rehabilitation, 2021
Eliezer Bose, Lisa J. Wood, Qing Mei Wang
We constructed a “continuous” shape on top of the point cloud to identify the underlying topology using a kernel density estimator. Persistent homology is an algebraic method for discerning topological features of data. To address this issue, TDA uses the idea of simplices. Each data point within the point cloud is a zero-dimensional simplex, an edge obtained by joining two points is a one-dimensional simplex, a triangular face is a two-dimensional simplex, and so on for higher-dimensional simplices. TDA algorithms obtain a simplical complex by joining many simplicies together so that the intersection between any two simplicies is also a simplex. Homology refers to the counting of the connected components of a simplical complex. We used TDA algorithms to compute then a way to visualize these features and encode them in a persistence diagram, in the form of bars, each corresponding to the birth and death (time) of a homological feature.
Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene
Published in Ophthalmic Genetics, 2019
Maha M. Mameesh, Adila Al-Kindy, Majda Al-Yahyai, Anuradha Ganesh
He was born with a weight of 2.4 kg (3rd centile) and an occipitofrontal circumference of 31 cm (0.4th centile). At 7 years of age, he was noted to have mild short stature with height on the 2nd centile, weight below 3rd centile, microcephaly, a triangular face, flat forehead, upslanting palpebral fissures, unilateral microphthalmos, downturned mouth corners, large bulbous nose, prominent cup-shaped ears and short philtrum (Figure 2). Systemic evaluation including neurological examination and magnetic resonance imaging (MRI) brain was normal. Stanford Benet intelligence test showed borderline impairment (score of 75). Echocardiogram, audiometry, and ultrasound study of the abdomen were unremarkable. Renal functions were within normal limits. X-ray of the cervicothoracic region was performed and was unremarkable.
Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A gene
Published in Ophthalmic Genetics, 2023
Bilge Batu Oto, Deniz Ağırbaşlı, Oğuzhan Kılıçarslan, Gökhan Celik, Aysel Kalayci Yigin, Mehmet Seven, Hüseyin Yetik
Detailed physical examination in GETAM revealed growth retardation findings with rhizomelia, short stature [77 cm (<3%ile)], and low weight [10 kg (<3%ile)]. His head circumference was 50 cm (50–75%ile). He had dysmorphic findings of hypertelorism, deep set eyes, long and triangular face, prominent forehead, pointed chin, short femoral neck, small hands with short metacarpals, and metatarsals which are compatible with SOFT Syndrome (Figure 2). The extra phenotypic findings were Widow’s peak and thick hair, micrognathia, small chest, pectus excavatum, and short wide phalanges. The patient has 2 elder female siblings who had normal phenotypes.