Publikation Novel Syndrome

An identical pattern of malformations was found in two brothers both having microcephaly and severe developmentaldelay.


An identical pattern of malformations was found in two brothers both having microcephaly and severe developmentaldelay. Additionally, they had hypotelorism, epicanthic folds, and convergent strabismus. There was shortening of eitherthe radius or the tibia and shortening of the ®rst metacarpals. Persistently dorsally  ?exed ®ngers and toes were noted, allof which are unusually long. Both boys had a high-pitched voice and were unable to communicate verbally at the age of4.5 years. They both developed short stature. One brother has anal atresia; the other had a pulmonary artery atresia,VSD, ASD, and an over-riding aorta. This apparently new syndrome is possibly an autosomal, or a X-linked recessivetrait.Clin Dysmorphol 10: 33±36 # 2001 Lippincott Williams & WilkinsKeywords: short stature, microcephaly, mental retardation, hig
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Publikation Infertilität

Testicular Gene Expression in Cryptorchid Boys at Risk of Azoospermia


Despite timely and successful surgery, 32% of patients withbilateral and 10% with unilateral cryptorchidism will developazoospermia. Cryptorchid boys at risk of azoospermia dis-play a typical testicular histology of impaired mini-pubertyat the time of the orchidopexy. During mini-puberty in-creased gonadotropin and testosterone secretion stimulatetransformation of gonocytes into Ad spermatogonia. In theazoospermia risk group this transformation is to a great ex-tent impaired. This study aimed to analyze data on wholegenome expression signatures of undescended testes at riskof developing azoospermia. Twenty-three testicular biopsiesfrom 22 boys were analyzed (19 testes from 18 boys withcryptorchidism and 4 contralateral descended testes frompatients with testicular agenesis). Expression profiling iden-tified 483 genes not or under-expressed in the azoospermiarisk group compared with the control and low risk for azo-ospermia (LAZR) groups. Annotated loci were associatedwith spermatogenesis. Other significant genes were cellulardefense response genes and hormone-controlled loci in-volved in spermatogenesis.
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Publikation Zöliakie

Intestinal biopsy is not always required to diagnose celiac disease: a retrospective analysis of combined antibody tests.


Background: The objective of this study was to compare celiac disease (CD)– specific antibody tests to determineif they could replace jejunal biopsy in patients with a high pretest probability of CD.Methods: This retrospective study included sera from 149 CD patients and 119 controls, all with intestinal biopsy.All samples were analyzed for IgA and IgG antibodies against native gliadin (ngli) and deamidated gliadin peptides(dpgli), as well as for IgA antibodies against tissue transglutaminase and endomysium.Results: Tests for dpgli were superior to ngli for IgG antibody determination: 68% vs. 92% specificity and 79% vs.85% sensitivity for ngli and dpgli, respectively. Positive (76% vs. 93%) and negative (72% vs. 83%) predictive valueswere also higher for dpgli than for ngli. Regarding IgA gliadin antibody determination, sensitivity improved from61% to 78% with dpgli, while specificity and positive predictive value remained at 97% (P < 0.00001). Acombination of four tests (IgA anti-dpgli, IgG anti-dpgli, IgA anti- tissue transglutaminase, and IgAanti-endomysium) yielded positive and negative predictive values of 99% and 100%, respectively and a likelihoodratio positive of 86 with a likelihood ratio negative of 0.00. Omitting the endomysium antibody determination stillyielded positive and negative predictive values of 99% and 98%, respectively and a likelihood ratio positive of 87with a likelihood ratio negative of 0.01.Conclusion: Antibody tests for dpgli yielded superior results compared with ngli. A combination of three or fourantibody tests including IgA anti-tissue transglutaminase and/or IgA anti- endomysium permitted diagnosis orexclusion of CD without intestinal biopsy in a high proportion of patients (78%). Jejunal biopsy would be necessaryin patients with discordant antibody results (22%). With this two-step procedure, only patients with no CD-specificantibodies would be missed.
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