نتایج جستجو برای: triphalangeal

تعداد نتایج: 98  

2008
Christian Babbs Dominic Furniss Gillian M. Morriss-Kay Andrew O.M. Wilkie

The mouse mutant Doublefoot (Dbf) shows preaxial polydactyly with 6-9 triphalangeal digits in all four limbs and additional abnormalities including a broadened skull, hydrocephalus, and a thickened, kinked tail. The autopod undergoes a characteristic expansion between late embryonic day (E) 10.5 and E11.5, following the onset of ectopic Indian hedgehog (Ihh) expression in the entire distal mese...

2017
Martijn Baas Jacob W P Potuijt Steven E R Hovius A Jeannette M Hoogeboom Robert-Jan H Galjaard Christianne A van Nieuwenhoven

Triphalangeal thumbs (TPTs) are regularly caused by mutations in the ZRS in LMBR1. Phenotypic variability can be present in TPT-families. However, recent observations suggest an increased occurrence of severe phenotypes in the Dutch TPT-population. Therefore, the aim of this study is to investigate the progression of the clinical severity of TPT-phenotype through generations. Index patients fro...

Journal: :Journal of applied genetics 2005
Ana I Vásquez-Velásquez Lisette Arnaud-López Luis E Figuera Jorge R Padilla-Gutiérrez Fernando Rivas Horacio Rivera

We describe here a 3-month-old male infant with brachy-plagyocephaly, short neck, widely spaced nipples, mild hypertonia, and ambiguous external genitalia but with both testes in the scrotum and no Müllerian derivates. His karyotype was 45,X,der(Y;9)(q12;p24).ish der(Y;9)(DYZ3+,SRY+,9ptel-) de novo. This patient's impaired sex differentiation is consistent with gonadal dysgenesis and compares w...

Journal: :Ultrasonography 2016
Seun Ah Lee Baek Hyun Kim Seon-Jeong Kim Ji Na Kim Sun-Young Park Kyunghee Choi

The recent development of advanced high-resolution transducers has enabled the fast, easy, and dynamic ultrasonographic evaluation of small, superficial structures such as the finger. In order to best exploit these advances, it is important to understand the normal anatomy and the basic pathologies of the finger, as exemplified by the following conditions involving the dorsal, volar, and latera...

Journal: :Postgraduate medical journal 1971
F F Fenech C J Jaccarini P V Agius

Introduction Holt & Oram (1960) linked various skeletal abnormalities with congenital heart disease in four generations of a family. In particular, malformations of the hands were associated with atrial septal defect (secundum type) and bizarre arrhythmias. In 1961, McKusick described a similar syndrome in a mother and daughter and suggested the term 'atrio-digital dysplasia'. Harris & Osborne ...

Journal: :Hiroshima journal of medical sciences 1984
S Watari Y Hagiyama K Tsuge

Cleft hand is an anomaly in which the primary feature is oligodactyly, and it is considered an important congenital malformation. The authors have analyzed the cases they have handled and developed an independent classification based on the number of defective digits. It has been ascertained that the clinical symptoms correlate with the number of defective digits, and a regular pattern was obse...

Journal: :Blood 1997
S H Kaufmann P A Svingen S D Gore D K Armstrong Y C Cheng E K Rowinsky

Topotecan (TPT) is a topoisomerase I (topo I) poison that has shown promising antineoplastic activity in solid tumors and acute leukemia. In the present study, a band depletion assay was used to evaluate the ability of TPT to stabilize topo I-DNA adducts in human leukemia cell lines and in clinical leukemia samples ex vivo. This assay showed that 50% of the cellular topo I in HL-60 human myelom...

2017
Sunil Gaba Naveen John Sandeep Bhogesha Onkar Singh Guru Karna Vemula

Mirror hand or ulnar dimelia is a very rare congenital anomaly characterized by symmetric duplication of the upper limb in the midline. In most cases there is mirrored symmetry with a central digit and 3 digits on either side representing the middle ring and small fingers. The thumb is absent despite presence of seven digits. There is duplication of ulna and absence of radius. The preaxial ulna...

2015
Amar Jyoti Kyle D. Fugit Pallavi Sethi Ronald C. McGarry Bradley D. Anderson Meenakshi Upreti

Low dose metronomic chemotherapy (LDMC) refers to prolonged administration of low dose chemotherapy designed to minimize toxicity and target the tumor endothelium, causing tumor growth inhibition. Topotecan (TPT) when administered at its maximum tolerated dose (MTD) is often associated with systemic hematological toxicities. Liposomal encapsulation of TPT enhances efficacy by shielding it from ...

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