SHFM

AcronymDefinition
SHFMSplit Hand Foot Malformation
SHFMSeattle Heart Failure Model (cardiology)
SHFMSport, Health and Fitness Management (Higher Education Academy; UK)
SHFMSperm Head Fixation Method (reproductive biology)
Copyright 1988-2018 AcronymFinder.com, All rights reserved.
References in periodicals archive ?
Yarik el/ayak malformasyonu (split hand/foot malformation, SHFM) veya ektrodaktili; median apikal ektodermal kabarti aktivitesindeki bozulma nedeniyle el ve ayaklarda olusan santral isin defekti ile karakterizedir.
Bizim olgumuzda yapilan karyotip ve kromozomal array analizinde 7q21.3 bolgesinde herhangi bir kromozomal yeniden duzenlenme, delesyon/duplikasyon saptanmamasi nedeniyle SHFM1 ve 10q24 duplikasyonlari ile iliskili SHFM3 tanisindan uzaklasildi ancak tum ekzom dizileme (whole exome sequencing, WES) yapilamadigi icin SHFM'larinin diger tipleri ve DLX5 intragenik mutasyonlari ile ilsikili SHFM1 ayirici tanida yer almaktadir.
The offspring of the patient have a 30-50% risk of suffering from SHFM as it is predominantly inherited by the autosomal dominant mode and has a higher risk of affecting boys due to skewed transmission with higher penetrance in males [3, 7, 9].
Rothlisberger, "Homozygous nonsense mutation in WNT10B and sporadic Split-Hand/Foot Malformation (SHFM) with autosomal recessive inheritance," American Journal of Medical Genetics, Part A, vol.
To date six different forms of isolated (non-syndromic) SHFM described in humans.
Recently the actual disease gene dilemma in SHFM-1 was solved by Shamseldinet al10 who studied an autosomal recessive SHFM consanguineous Yemeni family at molecular level and reported a homozygous missense mutation in the gene DLX5.
Notably, this locus in humans was known to be similar to the locus in mice causing the Dactylaplasia (Dac) phenotype, which comprises of absence of the central digits with clefts or monodactyly and thus closely resembles human SHFM. Several genes in limb development are known to be involved in the duplicated segments at the SHFM-3 locus and the nearby region.
Ugur and Tolun 26 reported a multi generation consanguineous Turkish family having autosomal recessive inheritance with reduced penetrance showing typical SHFM phenotypes.
Mutation p.Arg332Trp was detected in the homozygous state in all SHFM individuals as well as in an unaffected individual of the same family.
Consequently, large pedigrees with unique inherited disorders, including SHFM, are more common in Pakistan than in many other countries.
The SHFM phenotypes have more variations among affected individuals of the families grading from complete and incomplete cutaneous, pre-axial and postaxial syndactyly and pre-axial and postaxial polydactyly to classical cleft hands and classical cleft foot.
In our audit we found that a large proportion of patients who were at high risk as per the SHFM were not on OMT, and adding the OMT greatly reduced their mortality risk.