Prevalence And Penetrance Of Zfpm2 Mutations And Deletions Causing Congenital Diaphragmatic Hernia
congenital diaphragmatic hernia; defects; DNA copy number variation; exome; fallot; FOG2; FOG2; gene; Genetics & Heredity; penetrance; tetralogy; variants; ZFPM2
Longoni M; Russell M K; High F A; Darvishi K; Maalouf F I; Kashani A; Tracy A A; Coletti C M; Loscertales M; Lage K; Ackerman K G; Woods S A; Ward-Melver C; Andrews D; Lee C; Pober B R; Donahoe P K
Clinical Genetics
2015
2015-04
Journal Article or Conference Abstract Publication
<a href="http://doi.org/10.1111/cge.12395" target="_blank" rel="noreferrer noopener">10.1111/cge.12395</a>
Pili Torti: Clinical Findings, Associated Disorders, and New Insights Into Mechanisms of Hair Twisting
Dermatology; disease; complex; defects; mutations; bcs1l gene
Pili torti is a hair shaft disorder characterized by hair that does not grow long and is easily broken; the hair often has a coarse or spangled appearance. A diagnosis is made by light microscopy of flattened hair twisted 180 degrees along its axis. Although pili torti may be isolated, it is commonly associated with other congenital defects and therefore, if identified, further evaluation for possible neurologic deficits and ectodermal disorders is an important part of the clinical evaluation. Alterations of the inner root sheath likely lead to the abnormal molding and twisting of the hair shaft. More recent research suggests that these alterations may occur in the face of mitochondrial dysfunction and may be influenced by the presence of reactive oxygen species. Cutis. 2009;84: 143-147.
Mirmirani P; Samimi S S; Mostow E
Cutis
2009
2009-09
Journal Article or Conference Abstract Publication
n/a
Long-term functional and anatomical follow-up of early detected spondylolysis in young athletes
diagnosis; adolescents; Orthopedics; Sport Sciences; defects; degeneration; low-back-pain; nonoperative treatment; computed tomography (CT); functional outcome; interarticularis; lumbar spondylolysis; pars; scan; spondylolisthesis; spondylolysis
Background: Spondylolysis defects detected by nuclear scintigraphy but not by plain radiographs represent early lesions. Functional outcome and eventual bony union of these defects are unknown. Hypothesis: Defects with greater degree of healing shortly after treatment will proceed to full bony union and better long-term functional outcome. Study Design: Longitudinal cohort study. Methods: Forty young athletes with early detected spondylolysis (radiograph negative, nuclear scintigraphy positive) were divided into 3 stages of healing by computed tomography scan. Functional outcome was assessed 7 to 11 years later using the low back outcome score and other factors. Degree of bony healing was assessed in volunteers. Results: Thirty-two of 40 subjects (80%) completed the survey. Twenty-nine of 32 (91%) had good or excellent low back outcome scores. None required spinal fusion, but 1 required partial diskectomy. Functional outcome did not differ based on initial computed tomography results. Radiographic follow-up was obtained in 11 volunteers. None of the 7 bilateral defects healed, and 3 of these progressed to grade 1 spondylolisthesis. All 4 unilateral defects healed fully with bone. Conclusions: Most young athletes conservatively treated for early spondylolysis maintain good functional outcome up to 11 years later. Unilateral defects can undergo full bony healing but may take longer than 12 weeks. Bilateral defects may undergo further degeneration and slip with time.
Miller S F; Congeni J; Swanson K
American Journal of Sports Medicine
2004
2004-06
Journal Article or Conference Abstract Publication
<a href="http://doi.org/10.1177/0363546503262194" target="_blank" rel="noreferrer noopener">10.1177/0363546503262194</a>
MICROSURGICAL FOREHEAD RECONSTRUCTION - AN AESTHETIC APPROACH
coverage; defects; flap; restoration; scalp; Surgery
Satisfactory forehead reconstruction can be accomplished by microsurgical free tissue transfer. Basic principles of forehead resurfacing include: (1) replacement with similar quality soft tissue as a well-defined complete aesthetic unit, (2) establishment of the hairline 5-6 cm above the eyebrows, and (3) use of adjunctive procedures to enhance the aesthetic result. We have found the radial forearm flap and the groin flap to be excellent flaps for achieving this goal.
Weinzweig N; Davies B; Polley J W
Plastic and Reconstructive Surgery
1995
1995-04
Journal Article
<a href="http://doi.org/10.1097/00006534-199504000-00005" target="_blank" rel="noreferrer noopener">10.1097/00006534-199504000-00005</a>
Conjoined twins in a wild bat: a case report
Artibeus phaeotis; chiroptera; defects; dicephalus parapagus; embryology; fetus; head; Zoology
There are numerous records of conjoined twinning in humans and domesticated animals, but many fewer for wild animals because of the early death of conjoined twins. We here describe the incidental discovery and skeletal anatomy of a wild-caught bat fetus with two heads. To our knowledge, this is only the second conjoined bat fetus described, and the first conjoined Artibeus phaeotis. We also revisit the anatomy of the first conjoined bat that was described, a stillborn Eptesicus fuscus.
Urban D J; Sorensen D W; Maier J A; Fenton M B; Simmons N B; Cooper L N; Sears K E
Acta Chiropterologica
2015
2015-06
Journal Article
<a href="http://doi.org/10.3161/15081109acc2015.17.1.016" target="_blank" rel="noreferrer noopener">10.3161/15081109acc2015.17.1.016</a>