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Vascular complications in orthopaedic patients treated by orthopaedic microsurgeons.

Over a 20 year period, five patients experienced serious vascular complications involving major arterial insult during various routine orthopaedic procedures. The nature of the vascular damage necessitated immediate surgical repair which was performed successfully by an orthopaedic microsurgeon who was either a member of the initial surgical team or the hospital's Orthopaedic Unit. The purpose of this study is to illustrate not only the severity of these limb and/or life-threatening complications, but also to focus attention on the importance of the orthopaedic surgeon's ability to manage thes

Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome.

Pathogenic heterozygous variants in PIEZO2 typically cause distal arthrogryposis type 5 (DA5) and the closely related Gordon syndrome (GS). Only one case of PIEZO2-related Marden-Walker syndrome (MWS) has been reported to date. We report the phenotypic features of a Saudi female patient with features consistent with MWS in whom we identified a novel de novo likely pathogenic variant in PIEZO2. Our case lends support to the link between PIEZO2 and MWS.

Renal sodium and magnesium reabsorption are not coupled in a mouse model of Gordon syndrome.

Active reabsorption of magnesium (Mg2+ ) in the distal convoluted tubule (DCT) of the kidney is crucial for maintaining Mg2+ homeostasis. Impaired activity of the Na+ -Cl- -cotransporter (NCC) has been associated with hypermagnesiuria and hypomagnesemia, while increased activity of NCC, as observed in patients with Gordon syndrome, is not associated with alterations in Mg2+ balance. To further elucidate the possible interrelationship between NCC activity and renal Mg2+ handling, plasma Mg2+ levels and urinary excretion of sodium (Na+ ) and Mg2+ were measured in a mouse model of Gordon syndrome

Surgical correction of talipes equinovarus following foot and leg compartment syndrome.

Between 1984 and 1994, 40 patients with a posttraumatic compartment syndrome of the lower leg and foot were treated for talipes equinovarus adductus foot deformity, which subsequently developed. Twenty patients had a wedge osteotomy followed by arthrodesis of the midtarsal joint (Chopart joint). Another 17 patients had an arthrodesis of the midtarasal and subtalar joints. In the remaining three patients, in addition to arthrodesis, lengthening of the tendons of the long flexors and the Achilles tendon was performed. Complications included wound infections (six cases), drill hole infections (th

A review of craniofacial disorders caused by spliceosomal defects.

The spliceosome is a large ribonucleoprotein complex that removes introns from pre-mRNA transcripts. Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of mandibulofacial dysostosis, Guion-Almeida type (MFDGA), characterized by mandibulofacial dysostosis, microcephaly, external ear malformations and intellectual disability. Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified in human disorders with specific craniofacial malformations: SF3B4 in Nager

Two hundred cases of paralytic foot stabilization after the method of Hoke : O. L. Miller MD (1887-1970). The 10th president of the AAOS 1941.

Dr. Oscar Lee Miller was born on a farm in Franklin County, in northeast Georgia [6]. He obtained a teachers’ certificate and taught school … y the number of polio patients at the time was devastating. Among these 200 cases, 121 were of the “clubfoot type,” 62 had pes cavus (on which he wrote in 1927 [4]), and 17 pes calcaneus (on which he wrote in 1936 [5]). Miller reports eight cases of flail feet (although it is unclear whether these are additional cases, or fall within one of the three categ …

High-tech pediatric home care: a collaborative approach.

High-risk pediatric patients require specialized care. Through collaboration with medical specialty providers, home care agencies have the opportunity to go beyond providing traditional pediatric types of home care to providing successful, cutting-edge, high-tech pediatric home care.

Modification of the effects of nitrogen dioxide and sulfur dioxide on congenital limb defects by meteorological conditions.

STUDY QUESTION: Can meteorological conditions modify the associations between NO2 and SO2 exposure and congenital limb defects (CLDs) during … based monitoring system for birth defects (including polydactyly, syndactyly, limb shortening, and clubfoot) and healthy controls from the electronic medical records system were studied. Complete data on daily average NO2 and SO2 concentrations and meteorological variables were obtained from local monitoring stations to estimate monthly individual exposur …

Prenatal diagnosis of 2q32 deletion syndrome characterized by multiple segmental deletions and complex chromosomal rearrangement involving chromosomes 2, 5 and 7.

This is the first case of 2q32 microdeletion syndrome diagnosed prenatally and followed throughout the pregnancy. The pregnancy was complicated by fetal club feet, ventriculomegaly, intrauterine growth retardation and polyhydramnios. This is a unique and highly complicated prenatal diagnosis case of a de novo complex chromosomal rearrangement involving chromosomes 2, 5 and 7 with 15 breaks and multiple interstitial 2q deletions, resulting in the 2q32 microdeletion syndrome. The delineation of the karyotype in this case and origin of the pathology required the use of multiple genetic technologi

Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans.

Mutations in WNK1 and WNK4 cause familial hypertension, the Gordon syndrome. WNK1 and WNK4 conserved noncoding regions were targeted to polymorphism screening using DHPLC and DGGE. The scan identified an undescribed polymorphic AluYb8 insertion in WNK1 intron 10. Screening in primates revealed that this Alu-insertion has probably occurred in human lineage. Genotyping in 18 populations from Europe, Asia, and Africa (n = 854) indicated an expansion of the WNK1 AluYb8 bearing chromosomes out of Africa. The allele frequency in Sub-Saharan Africa was ~3.3 times lower than in other populations (4.8

Associated syndromes in patients with Pierre Robin Sequence.

OBJECTIVES: Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft palate. Current literature reports that Stickler syndrome is the most common syndrome associated with PRS, and 22q11 deletion syndrome (22q11 DS) as the second most common. This study identifies associations between PRS and genetic syndromes. METHODS: A retrospective chart review was performed to identify patients diagnosed with PRS over a 10-year period from 4/1/2007 to 4/1/2017 at a tertiary children's hospital. RESULTS: 4,052 cons

[Modern neuroimaging of brain plasticity].

Modern neuroimaging methods offer new insights into the plasticity of the human brain. As the techniques of functional MRI and diffusion tensor imaging are increasingly being applied in a clinical setting, the examiner is now frequently confronted with the interpretation of imaging findings related to regenerative processes in response to lesions of the central and also of the peripheral nervous system. In this article individual results of modern neuroimaging studies are discussed in the context of structural and functional plasticity of the CNS.

Long-term follow-up of thalidomide embryopathy: malformations and development of osteoarthritis in the lower extremities and evaluation of upper extremity function.

BackgroundBetween 1959 and 1962, several children with multiple malformations were born after maternal intake of thalidomide during pregnancy, known as thalidomide embryopathy (TE).ObjectivesThe aim of this study was to evaluate the malformations, their long-term effect on the function of the extremities and the development of degenerative osteoarthritis (OA) in the lower extremities.MethodsAll living persons with TE in Sweden were invited to participate in the study. Thirty-one patients were examined clinically as a part of a multi-disciplinary follow-up programme. Evaluation of upper and low

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… Bilateral severe dysplasia of the acetabulum and short femur with no apparent hip joint and tibial aplasia, right foot in calcaneovalgus position, while the left has a clubfoot deformity. … Bilateral severe dysplasia of the acetabulum and short femur with no apparent hip joint and tibial aplasia, right foot in calcaneovalgus position, while the left has a clubfoot deformity. …