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101.
Shaw GM Carmichael SL Yang W Harris JA Lammer EJ 《American journal of medical genetics. Part A》2004,(3):250-256
Few population-based epidemiologic data are available on malformation phenotypes that co-occur with orofacial clefts. We explored the occurrence of structural congenital malformations in offspring with cleft palate (CP) and in offspring with cleft lip with or without CP (CLP), using data from a population-based active surveillance system. Ascertainment was performed among 3548991 liveborn and 23239 stillborn offspring of California women who delivered in nonmilitary hospitals during the period, 1983-1997. Structural congenital malformations were found in 91888 births. Among them, 2343 had CP and 4072 had CLP. Malformations were grouped according to 3- and 4-digit codes of the British Pediatric Association (BPA). Prevalences of each malformation grouping, defined by these codes, were calculated among: (1). all births with CP; (2). all births with CLP; (3). all births without CP or CLP but with another structural malformation; and (4). all births in the population at risk. These various prevalence measures were the basis of estimating relative risks. Observed relative risks indicated that some phenotypes were more likely and some were less likely to co-occur with either CP or CLP, with relative risks ranging from 0.5 to 2.4. For both CP and CLP, estimated relative risks were highest for malformations involving the respiratory system and lowest for spina bifida. The exclusion of all births (n = 10702) with chromosomal anomalies from comparisons did not materially alter observed relative risk estimates. Computations extended to 4-digit level BPA codes revealed elevated risks for a number of more specific diagnoses seen within the larger (3-digit level) groupings defined as eye, ear, respiratory, upper alimentary tract, and other musculoskeletal anomalies. In this large population-based cohort of infants and fetuses with CLP or CP, we observed several noncleft malformation groupings to be more common and others to be less common in their co-occurrence with orofacial clefts relative to their co-occurrence with any other malformation. These observed patterns tended to be similar for CP and for CLP. 相似文献
102.
Storm AL Johnson JM Lammer E Green GE Cunniff C 《American journal of medical genetics. Part A》2005,(2):141-145
We report on 20 individuals in 4 kindreds with auriculo-condylar syndrome (ACS), an autosomal dominant disorder characterized by congenital auricular clefts, mandibular condyle hypoplasia, temporomandibular joint (TMJ) abnormalities, micrognathia, microstomia, and a round facial appearance with prominent cheeks. Affected individuals have varying degrees of glossoptosis, respiratory distress, masticatory abnormalities, and malocclusion. Data from these families and those previously described suggest that this is a unique disorder with widely variable expression, including lack of obvious external anomalies in some individuals and severe ear malformations, condyle agenesis, and characteristic facial features in others. Early recognition of this condition should permit appropriate counseling and anticipatory guidance, including evaluation for reconstructive surgery and orthodontia and intervention for upper airway obstruction and sleep apnea. 相似文献
103.
G. Kretschmer Th. Hölzenbein J. Lammer S. Thurnher J. Buth P. Harris 《European Surgery》1999,31(2):118-119
Schlu?folgerungen Das TEAM-Verfahren ist eine endoluminale, wenig invasive Alternative zur Behandlung; Vergleiche: die Letalit?t 3,4% (offen)
vs. 3,1% (TEAM). Alterdings sind Patienten enthalten (11,5 bis 15%). denen das offene Verfahren nicht zumuthar gewesen ist,
Komplikationsraten (offen): 20 bis 26%, TEAM: 37%. Prim?re oder sekund?re Endoleaks stellen derzeit ein Problem dar. Die Resultate
sind von der Risikobelastung (ASA-Status) stark abh?ngig. Langzeitergebnisse sind derzeit nicht vorhanden, die Anzahl von
sekund?ren Sp?tleaks (18%) zeit nicht vorhanden, die Anzahl von sekund?ren Sp?tleaks (18%) gibt Anla? zur Besorgnis, da die
Ursache nicht gekl?rt erscheint, m?glich w?re eine unvollst?ndige Ausschaltung des AAA. Leaks sind in der Regel mit interventionellen
Methoden zu versorgen, alterdings ist eine strikte überwachung der Patienten notwendig.
Mitglieder der Endovaskul?ren Studiengruppe Wien:A. Ahmadi, H. Ehringer, T. H?lzenbein, I. Huk, G. Kretschmer, J. Lammer, E. Minar, P. Polterauer, S. Thurnher undW. Trubel. 相似文献
104.
105.
106.
Holoprosencephaly is a developmental field defect manifested by a spectrum of abnormalities of the forebrain and midface. Approximately 50% of holoprosencephaly cases are associated with a cytogenetic abnormality or a monogenic syndrome. Suggested risk factors for the remaining 50% of cases have been described in case reports, but have not been confirmed in systematically conducted studies. We report the results of a population‐based case‐control study of holoprosencephaly. Live births, fetal deaths, and terminations with a diagnosis of cytogenetically normal holoprosencephaly were identified by the California Birth Defects Monitoring Program. Telephone interviews were conducted with the mothers of 58 cases and 107 live born, nonmalformed controls. Women were questioned about their health and reproductive histories, family demographics, and exposures occurring during their pregnancies. Among nonsyndromic cases, increased risks were observed for females (OR=1.8, 95% C.I. 0.9–3.9), foreign‐born vs. U.S. or Mexico‐born women (OR=3.1, 95% C.I. 1.1–8.6), and women with early menarche (OR=2.3,95% C.I. 0.9–5.7). Maternal periconceptional exposures associated with increased risks for nonsyndromic holoprosencephaly included alcohol consumption (OR=2.0, 95% C.I. 0.9–4.5), cigarette smoking (OR=4.1, 95% C.I. 1.4–12.0), and combined alcohol and smoking (OR=5.4, 95% C.I. 1.4–20.0), insulin‐dependent diabetes (OR=10.2, 95% C.I. 1.9–39.4), medications for respiratory illnesses (OR=2.3, 95% C.I. 0.9–6.0), and salicylate‐containing medications (OR=2.5, 95% C.I. 0.8–7.9). These findings are consistent with risk factors identified in some previous reports, and identify several new potential risk factors that require confirmation in future studies. Am. J. Med. Genet. 90:320–325, 2000. © 2000 Wiley‐Liss, Inc. 相似文献
107.
108.
109.
Roland Dorffner M.D. Friedrich Winkelbauer Joachim Kettenbach Michael Staudacher Johannes Lammer 《Cardiovascular and interventional radiology》1996,19(2):117-119
A 70-year-old woman presented with a large femoropopliteal aneurysm. A covered nitinol stent was implanted successfully and
complete exclusion of the aneurysm was achieved. At follow-up 5 months later the stent was still patent and the patient was
free of symptoms. However, moderate stenosis was seen at the proximal end of the stent. 相似文献
110.
Wolfgang Reimer Maria Teresa Farrés Johannes Lammer M.D. 《Cardiovascular and interventional radiology》1996,19(4):288-290
A percutaneous gastrostomy (PG) was complicated by gastric wall dissection and partial tube malposition. It occurred after
tangential puncture along the greater curvature of the stomach which was performed in order to avoid an enlarged left lobe
of the liver. To prevent this complication we recommend not using hydrophilic guidewires during PG.
Received: 0/00/00/Accepted: 0/00/00 相似文献