Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Little attention has been paid to the pathologic features of the umbilical cord, which might fatally damage the fetus. We determined the association of hypercoiling (more than 1 coil per 5 cm) and thinning with consecutive constriction of the umbilical vessels (thin cord syndrome; TCS) and intrauterine fetal death (IUFD). Three hundred and three cases of consecutive fetal autopsies over a 5-year period, including spontaneous and induced abortions of the 2nd trimester of pregnancy, were examined using a standardized protocol. The mean maternal age was 28.5 years and the mean gestational age was 19.1 weeks (range: 12.6 to 24.5 weeks). Thirty-six percent of all cases were induced abortions because of congenital malformations, and 8.9% resulted from legal abortions, as regulated by German law. One hundred sixty-seven cases (55.1%) were spontaneous abortion specimens. The leading cause for IUFD in the spontaneous abortion group was an amnion infection (34.7%), followed by abruptio placentae (15.6%). In 25.1% of cases, placental dysmaturity with consecutive placental insufficiency was responsible for IUFD. Pathologies of the umbilical cord as the cause of IUFD were seen in 10.2% of the cases. Most of these cases (15/17) involved TCS. In 14.4% of all spontaneous abortion specimens the cause of IUFD could not be determined by autopsy. There was an apparent difference in the frequency of TCS in the spontaneous abortion group (15/167 = 9%) compared to the nonspontaneous group (2/136 = 1.5%). A remarkably high percentage (17/303 = 5.6%) of all cases showed TCS. In cases of spontaneous abortions, TCS was causative for intrauterine death in 9% of cases (15/167). Careful pathologic examination of the umbilical cord is recommended to detect TCS and to reduce the cases with unexplained intrauterine death.
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PMID:Umbilical cord hypercoiling and thinning: a rare cause of intrauterine death in the second trimester of pregnancy. 1737 95

Treacher Collins syndrome (TCS) is a rare genetic disorder leading to congenital craniofacial malformations. Although this syndrome presents with various symptoms, corrective surgery for bilateral microtia with low hairline is one of the most challenging operations given the complex contours of the external ear. In this technical note, a novel, simple procedure for dealing with the low hairline by using a hinged mastoid fascial flap simultaneously with costal cartilage grafting is described. Several techniques for the reconstruction of low hairline microtia have been reported previously, such as skin graft, skin flap, and tissue expander, but the high number of repeat operations and residual scars remain problematic. As a simultaneous procedure with framework grafting, the use of a temporoparietal flap with skin grafting is popular; however, its drawbacks include the operative scar, decreased hair growth, and hair thinning. Patients with TCS show anatomical variations of the superficial temporal vessels supplying the temporoparietal flap. In contrast, due to the high vascularity of the mastoid fascia, the mastoid fascial flap can be elevated safely and easily as an anteriorly, posteriorly, superiorly, or inferiorly based flap.
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PMID:Reconstruction of low hairline microtia of Treacher Collins syndrome with a hinged mastoid fascial flap. 2674 99

Objective: To describe a case of surgically induced scleral necrosis in Treacher Collins syndrome after strabismus surgery. Methods: A 19-year-old girl underwent bilateral squint surgery. Two weeks postoperatively, she presented with subconjunctival abscess in the left eye. The surrounding conjunctiva was markedly inflamed with raised edges. Surgical debridement, microbiological evaluation and medical management were started immediately. Screening for autoimmune and vasculitic conditions did not provide any positive results. Results: On subsequent follow-up, conjunctival retraction and an area of scleral necrosis with thinning was noted. Significant healing with antibiotics and steroids was noted within one week. The integrity of the globe was well maintained and no further procedure for tectonic support was performed. Conclusion: Surgically induced scleral necrosis can be immune-mediated or following surgical site infection. Pre-existing scleral thinning due to neuroectodermal apoptosis in Treacher Collins syndrome remains a possible explanation for the accelerated necrotising scleritis in our case.
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PMID:Necrotizing scleritis after strabismus surgery in Treacher Collins syndrome. 3267 65