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11.
Congenital anomalies and genetic disorders in families of children with central nervous system tumours. 下载免费PDF全文
S M Jones P C Phillips P T Molloy B J Lange M N Needle J A Biegel 《Journal of medical genetics》1995,32(8):627-632
Medical genetic histories of 165 children with primary central nervous system (CNS) tumours and 4599 relatives of these probands were examined to identify birth defects or genetic disorders that may be associated with the aetiology of CNS tumours. Twelve primary malignancies were found in 329 (4%) of the parents of probands. Two of 99 half sibs but no full sibs had malignancies. Twenty-four percent of families had histories warranting consultation for an inherited disorder or birth defect. Single instances of malformations or genetic disorders were reported in 36 families and several disorders were reported in more than one family, including familial hypercholesterolaemia (4), olivopontocerebellar atrophy (2), and familial abdominal aortic aneurysm (2). Although recurring abnormalities were not identified in probands, it is possible that one or more of the birth defects or genetic disorders observed in probands or relatives may be associated with CNS tumourigenesis. 相似文献
12.
Andrew Fisher Alistair Bond Matthew D.G. Philpott Malwattage Lara Tania Jayatilaka Laura-Ann Lambert Lauren Fisher Lizzy Weigelt Darren Myatt Andrew Molloy Lyndon Mason 《Foot and Ankle Surgery》2021,27(3):291-295
BackgroundOur aim in this study was to identify the fibular footprint of the Anterior Inferior Tibiofibular Ligament (AITFL) and its relation to Wagstaffe fracture fragment size.MethodsWe examined 25 cadaveric lower limbs which were carefully dissected to identify the lateral ankle ligaments. The AITFL anatomy was compared to 40 Wagstaffe fractures identified from our ankle fracture database.ResultsThe AITFL origin was from the anterior fibular tubercle with an average length of 21.61 mm (95% CI 20.22, 22.99). The average distance of the distal aspect of the AITFL footprint to the distal fibula margin was 11.60 mm (95% CI 10.49, 12.71). In the ankle fractures analyzed, the average length of the Wagstaffe fragment was 17.88 mm (95% CI 16.21, 19.54). The average distance from the distal tip of the fibula to the Wagstaffe fracture fragment was 21.40 mm (95% CI 19.78, 23.01).In total there were 22 syndesmosis injuries. There was no statistical difference in Wagstaffe fragment size between stable and unstable groups.ConclusionThe AITFL fibular origin was both larger and more distal than the Wagstaffe fracture fragments seen in our institution. Therefore, this suggests that a ligamentous failure will also have to occur to result in syndesmotic instability. The size of fracture fragment also did not confer to syndesmotic instability on testing.Level of Evidence - 3 相似文献
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Michael D. Dub Christopher A. Rothfusz Ahmed K. Emara Matthew Hadad Peter Surace Viktor E. Krebs Robert M. Molloy Nicolas S. Piuzzi 《Current reviews in musculoskeletal medicine》2022,15(4):311
Purpose of Review8.5 to 50% of total joint arthroplasty (TJA) patients are reported to have preoperative malnutrition. The narrative review identifies the relationship between preoperative malnutrition for TJA patients and postoperative outcomes as well as the use of perioperative nutritional intervention to improve postoperative complications.Recent FindingsBiochemical/laboratory, anthropometric, and clinical measures have been widely used to identify preoperative nutritional deficiency. Specifically, serum albumin is the most prevalent used marker in TJA because it has been proven to be correlated with protein-energy malnutrition due to the surgical stress response. However, there remains a sustained incidence of preoperative malnutrition in total knee arthroplasty (TKA) and total hip arthroplasty (THA) patients due to a lack of agreement among the available nutritional screening tools and utilization of isolated laboratory, anthropometric, and clinical variables. Previous investigations have also suggested preoperative malnutrition to be a prognostic indicator of complications in general, cardiac, vascular, and orthopaedic surgery specialties.SummarySerum albumin, prealbumin, transferrin, and total lymphocyte count (TLC) can be used to identify at-risk patients. It is important to employ these markers in the preoperative setting because malnourished TKA and THA patients have shown to have worse postoperative outcomes including prolonged length, increased reoperation rates, increased infection rates, and increased mortality rates. Although benefits from high-protein and high-anti-inflammatory diets have been exhibited, additional research is needed to confirm the use of perioperative nutritional intervention as an appropriate treatment for preoperative TJA patients. 相似文献
15.
The effects of clonidine, an indirectly-acting cholinergic antagonist, on 5 behaviors elicited by atropine (locomotion, rearing, sniffing, grooming and gnawing) were studied in rats. Clonidine did not alter the prevalence or magnitude of atropine-elicited locomotion and rearing. In contrast, clonidine suppressed the occurrence and degree of 3 stereotyped behaviors, namely, sniffing, grooming and gnawing. This selectivity of clonidine suggests differences in the neural pathways subserving the various stereotyped motor activities. 相似文献
16.
Background Laparoscopic colorectal surgery has been reported to have some advantages compared with open surgery. The purpose of this
study was to evaluate the incidence of incisional hernias after elective open colorectal resection versus laparoscopic colorectal
resection.
Methods The study group consisted of 104 patients who underwent elective colorectal resection or reversal of a Hartmann’s procedure
between November 2003 and March 2005. Baseline data were prospectively recorded on all patients. All were examined by an independent
observer for evidence of incisional hernia after they had reached a minimum follow up of one year.
Results At a median follow up of 22 (17–26) months, nine patients had died and 95 were reviewed. Of these, 32 underwent laparoscopic
resection while 63 had open surgery. Patients were well matched for all baseline characteristics. The median length of the
wound in the laparoscopic group was 9 cm (IQR: 8–11 cm) while in the open group it was 20.8 cm (IQR: 17–24 cm). There was
no significant difference in incisional hernia rates between the groups (3 vs. 10, p = 0.52) or in those who had symptoms from their hernia (p = 0.773).
Conclusions Laparoscopic colorectal resection does not appear to reduce incisional hernia rates when compared with open surgery. Large
randomised trials are required to confirm these findings. 相似文献
17.
STUDY DESIGN: A questionnaire survey. OBJECTIVES: To collate and analyze the views of the delegates who attended the European Cervical Spine Research Society (CSRS) meeting on the use of methylprednisolone for acute traumatic spinal cord injury. SUMMARY OF BACKGROUND DATA: The NASCIS II and III studies reported improved neurologic recovery in patients who were treated with methylprednisolone within 8 hours of their acute traumatic spinal cord injury. A number of reported commentaries have criticized these trials. A recent audit in the authors' regional spinal injuries unit in the United Kingdom found that a large percentage of patients were not receiving methylprednisolone. The authors decided to collate the views of the delegates at the CSRS regarding the use of steroids for acute traumatic spinal cord injury. METHODOLOGY: A questionnaire was created that took into account the positive reported findings as well as the criticisms of the NASCIS studies. Delegates who attended the European CSRS meeting completed this questionnaire. RESULTS: Seventy-five percent of the delegates answered that they used or recommended methylprednisolone in the treatment of acute traumatic spinal cord injury. Nevertheless, the delegates had an average of 1.5 reservations about administering methylprednisolone. The most common reservation was that they did not think the improvement conferred to the patients by administering methylprednisolone had been clinically or functionally proven. There were reservations about the validity of the statistical analysis used in the NASCIS studies and by the omission of a placebo group in NASCIS III. The majority of the delegates thought it was not medicolegally negligent to withhold the administration of methylprednisolone in the treatment of acute traumatic spinal cord injury. CONCLUSION: The use of methylprednisolone in the treatment of acute traumatic spinal cord injury is still controversial. It would appear from a recent prospective audit at the authors' spinal injuries unit that a large percentage of patients in the United Kingdom are not receiving methylprednisolone. Because so much doubt exists, the NASCIS studies should be repeated. 相似文献
18.
Objective The pathogenesis of chronic anal fissure (CAF) remains incompletely understood but most are associated with a high resting anal pressure and reduced perfusion at the fissure site. To date, no major distinction has been made between anterior and posterior anal fissures and their aetiology and treatment. We compared anterior and posterior fissures in patients who have failed to respond to medical treatment with respect to their underlying aetiology, anal canal pressures and sphincter muscle integrity. Method Seventy consecutive patients (54 female:16 male) with a symptomatic CAF and 39 normal controls (19 female:20 male) without evidence of significant ano‐rectal pathology were prospectively assessed by manometry and anal endosonography. Results Anterior anal fissures were identified in a younger age group [33 years (IQR 26–37) vs 41 years (IQR 36–52)] and predominantly in women. Anterior fissure patients were significantly more likely to have underlying external anal sphincter defects compared with posterior fissures [OR 10.9 (95% CI 3.4–35.4)]. Maximum resting pressure was not significantly elevated for anterior fissures compared with controls (P = 0.316) but was significantly elevated in posterior fissures (P = 0.005). The maximum squeeze pressure was significantly lower in the anterior fissure group [167 cmH2O (IQR 126–196) vs 205 cmH2O (IQR 174–262), P = 0.004]. A history of obstetric trauma was significantly associated with anterior fissure location [OR 13.9 (95% CI 3.4–55.7)]. Conclusions Anterior anal fissures are associated with occult external anal sphincter injury and impaired external anal sphincter function compared with posterior fissures. These findings have implications for treatment, especially if a definitive procedure, such as lateral internal sphincterotomy, is considered. 相似文献
19.
Osteochondral Fracture of the Fourth Metatarsal Head Treated by Open Reduction and Internal Fixation
Praveen K.R. Mereddy MBBS MSOrth DNB Orth MRCSEd Andrew Molloy MBchB MRCS FRCS Michael S. Hennessy BSc MBchB FRCSEd 《The Journal of foot and ankle surgery》2007,46(4):320-322
Fracture of the metatarsal head is uncommon, and reports of isolated osteochondral fracture of the metatarsal head are rare. Because of the distal location of the fracture, it is difficult to achieve and maintain reduction, and potential complications include avascular necrosis and subchondral fatigue fracture. The authors present a case of an osteochondral fracture in a 40-year-old man, which was treated by open reduction and internal fixation with a single twist-off screw, with good results 12 months postoperatively. 相似文献
20.
BACKGROUND: Lung cancer is the leading cause of cancer mortality in the United States. Stage-specific survival is well documented in national data sets; however, there remains limited recording of longitudinal survival in individual centers. METHODS: The VistA Surgery Package was employed to list operations performed by the thoracic surgery service at one Veterans Administration (VA) Medical Center. RESULTS: During a period of 107 months, 416 thoracic operations were performed, 211 of them for lung cancer. Stage distribution was 66% stage I, 18% stage II, 12% stage III, and 4% stage IV. During follow-up, 102 patients died, 57 of them from disease-specific causes. Median survival was 39 months for stage I. Disease-specific median survival was 83 months for stage I, and 5-year survival was 52% (72% for stage IA and 32% for stage IB). CONCLUSIONS: Pulmonary resection offers high disease-free survival for early-stage lung cancer. Decentralized hospital computer programming (DHCP) allows individual oncology programs to reliably measure survival. Use of this important outcome measure in quality improvement programs facilitates realistic counseling of patients and meaningful assessments of practice effectiveness. 相似文献