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Nan Zhong Weina Ju Dennis Curley Daowen Wang James Pietrofesa Guanyan Wu Yan Shen Calvin Pang Priscilla Poon Xixian Liu Shen Gou Eliisa Kajanoja Markku Ryynnen Carl Dobkin W. Ted Brown 《American journal of medical genetics. Part A》1996,64(2):415-419
FRAXE is a fragile site located at Xq27-8, which contains polymorphic triplet GCC repeats associated with a CpG island. Similar to FRAXA, expansion of the GCC repeats results in an abnormal methylation of the CpG island and is associated with a mild mental retardation syndrome (FRAXE-MR). We surveyed the GCC repeat alleles of FRAXE from 3 populations. A total of 665 X chromosomes including 416 from a New York Euro-American sample (259 normal and 157 with FRAXA mutations), 157 from a Chinese sample (144 normal and 13 FRAXA), and 92 from a Finnish sample (56 normal and 36 FRAXA) were analyzed by polymerase chain reaction. Twenty-seven alleles, ranging from 4 to 39 GCC repeats, were observed. The modal repeat number was 16 in the New York and Finnish samples and accounted for 24% of all the chromosomes tested (162/665). The modal repeat number in the Chinese sample was 18. A founder effect for FRAXA was suggested among the Finnish FRAXA samples in that 75% had the FRAXE 16 repeat allele versus only 30% of controls. Sequencing of the FRAXE region showed no imperfections within the GCC repeat region, such as those commonly seen in FRAXA. The smaller size and limited range of repeats and the lack of imperfections suggests the molecular mechanisms underlying FRAXE triplet mutations may be different from those underlying FRAXA. © 1996 Wiley-Liss, Inc. 相似文献
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This article is intended to help clinicians better understand the ever-expanding body of research on whether psychosocial stress (both acute and chronic) is linked to 2 major adverse pregnancy outcomes: preterm birth and low birth weight. We summarize the existing literature and then review assessment tools commonly used to diagnose various types of psychosocial stress, with attention to how and when assessments should be made. After discussing the physiologic mechanisms hypothesized to underlie these relationships, we examine the range of existing interventions aimed at reducing psychosocial stress and review their efficacy at improving birth outcomes. Future directions for prevention of adverse pregnancy outcomes are discussed and suggest that an entirely new approach may be necessary. 相似文献
46.
Variations in Surgical Treatment and Outcomes of Patients With Pancreatic Cancer: A Population-Based Study 总被引:1,自引:0,他引:1
Background There is ongoing debate on how variations in surgical technique affect outcomes in pancreatic cancer. This population-based
study examines current surgical practice and outcomes for cancer of the pancreatic head.
Methods All patients 18 to 85 years old diagnosed with nonmetastatic adenocarcinoma of the pancreatic head from 1998 through 2003
were identified from the Surveillance, Epidemiology and End Results (SEER) Program registry. Multivariable regression was
used to elucidate factors associated with the type of pancreaticoduodenectomy performed, extent of lymph node (LN) assessment,
early mortality, and late survival.
Results Overall, 2111 patients were included in the study, with 83.7% treated with a standard Whipple pancreaticoduodenectomy (PD).
However, there was marked regional variation in the use of pylorus-preserving pancreaticoduodenectomy (PPPD; range, .03%–32.0%;
P < .0001) and total pancreatectomy (TP; range, .04%–19.5%; P < .0001). TP was associated with significantly higher early mortality (odds ratio, 2.6; 95% confidence interval, 1.6 to 4.1;
P < .0001), but late survival did not differ significantly between TP, PPPD, and PD (P = .69). Significant variation was also seen in the number of LN assessed (range across SEER regions, 7.3–13.5; P < .0001). Decreased LN assessment reduced the odds of diagnosing a patient as node positive and was associated with worse
late survival.
Conclusions In this population-based study, we found marked clinically important variability in the surgical treatment of adenocarcinoma
of the pancreatic head, with respect to the use of TP, PPPD, or PD, and the extent of LN assessment. Further research is warranted
to elucidate the underlying reasons, and to clarify the role of adequate lymphadenectomy. 相似文献
47.
Calvin S H Ng Tak Wai Lee Song Wan Innes Y P Wan Alan D L Sihoe Ahmed A Arifi Anthony P C Yim 《Journal of investigative surgery》2005,18(2):81-88
Major surgery is immunosuppressive, and this could have an impact on postoperative tumor immunosurveillance and, therefore, long-term survival in cancer patients. Video-assisted thoracic surgery (VATS) lung resection is a new alternative surgical approach to thoracotomy for patients with early lung cancer. This is a pilot study to examine the postoperative changes in leukocytes, lymphocyte subsets, B cells, T cells, and natural killer (NK) cells in non-small-cell lung cancer (NSCLC) patients undergoing lung resection with VATS versus thoracotomy approaches. Twenty-one consecutive patients with resectable primary NSCLC were assigned to VATS or thoracotomy approach over a 3-month period. Blood samples were collected preoperatively and at postoperative days (POD) 1, 3, and 7 for flow cytometry determination of total leucocytes, B cells, NK cells, lymphocytes, total T cells, and T4 and T8 cell numbers. There were no demographic differences between the two groups. Compared with the preoperative values, significantly increased total white cell numbers were detected at POD 1, 3, and 7 in all patients. At POD 1, although T8 cells and NK cells were reduced in both groups, total T cell, T4 cell, and lymphocyte numbers were significantly reduced only in the thoracotomy group. At POD 7, NK cell numbers were significantly lower in the thoracotomy group than that in the VATS group. No significant intra- or intergroup differences were seen with B cells. No significant differences in survival or disease-free survival were found between the two groups. Thus, VATS major lung resection for NSCLC is associated with less, as well as quicker recovery from, postoperative immunosuppression compared with the thoracotomy approach. The clinical relevance of better preserved cellular immunity in the early postoperative period warrants confirmation from large randomized trials. 相似文献
48.
Sook K. Lim Calvin C. Sampson Oswald G. Warner 《Journal of the National Medical Association》1981,73(5):413-417
Two separate primary carcinomas occurring simultaneously in the esophagus and stomach are uncommon. The authors report three cases of this entity, squamous cell carcinoma of the osophagus and adenocarcinoma of the stomach, one of which is classified as a collision carcinoma of the stomach. Because of the rarity of collision tumors of this histologic variety, the world literature was reviewed. Diagnostic features and the relative prognosis of dual primary carcinomas are discussed. 相似文献
49.
Our aim was to determine whether starting inhaled nitric oxide (iNO) on critically ill neonates with severe hypoxemic respiratory
failure and/or persistent pulmonary hypertension (PPH), at a referring hospital at the start of transport, decreases the need
for extracorporeal membrane oxygenation (ECMO), lessens the number of hospital days and improves survival in comparison with
those patients who were started on iNO only at the receiving facility. The study was a retrospective review of 94 charts of
neonates that had iNO initiated by the transport team at a referring hospital or only at the tertiary neonatal intensive care
unit (NICU) of the receiving hospital. Data collected included demographics, mode of transport, total number of hospital days,
days on inhaled nitric oxide and ECMO use. Of the 94 patients, 88 were included. Of these, 60 were started on iNO at the referring
facility (Field-iNO) and 28 were started at the receiving NICU (CHLA-iNO). All patients survived transport to the receiving
NICU. Death rates and ECMO use were similar in both groups. Overall, patients who died were younger and had lower birth weights
and Apgar scores. For all surviving patients who did not require ECMO, the length of total hospital stay (median days 22 versus
38, P = 0.018), and the length of the hospital stay at the receiving hospital (median days 18 versus 29, P = 0.006), were significantly shorter for the Field-iNO patients than for the CHLA-iNO patients, respectively. Earlier initiation
of iNO may decrease length of hospital stay in surviving neonates with PPH not requiring ECMO. 相似文献
50.
Glynn LM Davis EP Schetter CD Chicz-Demet A Hobel CJ Sandman CA 《Early human development》2007,83(10):675-681
BACKGROUND: The implications of the biologically active elements in breast milk for the breastfed infant are largely unknown. Animal models suggest that ingestion of glucocorticoids during the neonatal period influences fear behavior and modifies brain development. AIMS: To determine the association between postnatal maternal cortisol levels and temperament in breastfed infants. STUDY DESIGN: The relation between maternal cortisol and infant temperament was examined in breastfed and formula-fed infants. Plasma cortisol was used as a surrogate measure for breast milk cortisol levels (plasma and milk levels are correlated in the 0.6 to 0.7 range; [Patacchioli FR, Cigliana G, Cilumbriello A, Perrone G, Capri O, Alemà GS, et al. Maternal plasma and milk free cortisol during the first 3 days of breast-feeding following spontaneous delivery or elective cesarean section. Gynecologic and Obstetric Investigations 1992;34:159-163.]. If exposure to elevated cortisol levels during infancy influences temperament, then a relation between the two should be found among the breastfed infants, but not among the formula-fed infants. SUBJECTS: Two hundred fifty-three two-month-old infants and their mothers. OUTCOME MEASURES: Fearful temperament assessed with the Infant Behavior Questionnaire [Garstein MR, Rothbart MK. Studying infant temperament via the revised infant behavior questionnaire. Infant Behavior and Development 2003;26:64-86]. RESULTS: Among the breastfed infants, higher maternal cortisol levels were associated with reports of increased infant fear behavior (partial r=0.2; p<0.01). This relation did not exist among the formula-fed infants. Negative maternal affect at the time of assessment did not account for the positive association in the breastfed group. CONCLUSIONS: The findings are consistent with our proposal that exposure to cortisol in breast milk influences infant temperament. Biologically active components in breast milk may represent one avenue through which the mother shapes the development of the human infant during the postnatal period. 相似文献