Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.
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Cell Line↗
Biomedical subjects
I M Janssen
Publications and source records attributed to I M Janssen.
Low-intensity pulsed ultrasound in the treatment of nonunions.
BACKGROUND: Low-intensity ultrasound has demonstrated an acceleration of bone healing and more profound callus formation in animal and human clinical experiments. In this study, the effect of pulsed, low-intensity ultrasound was determined in established nonunion cases. METHODS: The enrolled cases were reviewed for the time from their last surgical procedure and evidence of no healing or progression of healing during the 3 or more months before the start of low-intensity ultrasound therapy to determine whether the cases were established nonunions. Twenty-nine cases, located in the tibia, femur, radius/ulna, scaphoid, humerus, metatarsal, and clavicle, met the criteria for established nonunions. On average, the postfracture period before the start of ultrasound treatment was 61 weeks. Initial fracture treatment was conservative in 8 cases and operative in 21 cases. Additional treatments including bone grafting, reosteosynthesis, and other surgical procedures were performed an average of 52 weeks before the start of ultrasound treatment. Daily, 20-minute applications of low-intensity ultrasound at the site of the nonunion were performed by the patients at home. RESULTS: Twenty-five of the 29 nonunion cases (86%) healed in an average treatment time of 22 weeks (median, 17 weeks). Stratification of the healed and failed outcome for age, gender, concomitant disease, bone location, fracture age, prior last surgery interval, nonunion type, smoking habits, and fixation before and during treatment showed a significant difference only in the smoking habit strata. CONCLUSION: Noninvasive ultrasound therapy can be useful in the treatment of challenging, established nonunions.
Adolescent↗
Leakage of adjustable gastric bands.
BACKGROUND: Surgery for morbid obesity has increased since the introduction of the adjustable gastric bands. Their advantage is the adjustability of the band, which can be inflated or deflated percutaneously according to weight loss without altering the anatomy of the stomach. We present 5 cases of leakage of the Swedish adjustable gastric band (SAGB) as a result of tearing of the balloon. METHODS: In our series, 29 patients received an SAGB; the remaining 20 received the LapBand. All but 4 procedures were performed laparoscopically. The adjustable gastric band (AGB) was inflated according to passage seen on gastro-esophagogram. According to weight loss or complaints of passage, the gastroesophagogram was repeated, and the AGB was inflated or deflated. RESULTS: No major complications were observed postoperatively. All but 5 patients showed weight loss and restriction of food intake after filling of the AGB. These 5 patients had all received an SAGB. High-pressure filling with contrast medium showed leakage of the SAGB. After removal the SAGB, 4 showed a tear at the site of fixation of the balloon to the band, and 1 showed a puncture of the balloon. The tears most probably occurred as a result of inadequate fixation while the SAGB was positioned around the stomach. CONCLUSION: To our knowledge, this complication has not been described before. The manufacturer of the SAGB has been notified, and consequently the fixation site has been reinforced.
Equipment Failure↗
Isolation of osteosarcoma-associated amplified DNA sequences using representational difference analysis.
Comparative genomic hybridization analysis of a primary osteosarcoma and its metastasis revealed two regions of DNA amplification, one at 17p11.2-12 and one at 19q12-13. Subsequent representational difference analysis of the primary tumor resulted in the isolation of two distinct tumor-amplified DNA fragments originating from chromosome 19. A YAC clone corresponding to one of the two isolated DNA fragments was used for fluorescence in situ hybridization on normal human lymphocyte metaphases and tumor-derived nuclei. This resulted in the localization of this YAC to 19q12-13.1 and confirmed the amplification status of the isolated fragment in the tumors. The availability of such RDA-isolated sequences may be instrumental in the search for genes relevant for tumor development.
Adolescent↗
[Acute pancreatitis caused by chylomicronemia syndrome].
Pancreatitis caused by chylomicronaemia was diagnosed in three patients, two men of 36 and 51 years and a woman of 33 years. All three patients had a combined hyperlipidaemia, with severely elevated levels of triglycerides and cholesterol. Secondary causes of hypertriglyceridaemia such as uncontrolled diabetes mellitus, alcohol abuse, and non-compliance with diet and lipid lowering drug therapy caused aggravation of the lipid disorder. It is important to consider chylomicronaemia as a possible cause of pancreatitis, as treatment of the lipid disorder with diet and, if necessary, drugs can prevent recurrence of pancreatitis.
Acute Disease↗
Failure of the gamma nail in a highly unstable proximal femur fracture: report of four cases encountered in The Netherlands.
Static forces of body weight and dynamic forces induced by walking are a challenge toward lasting fixation devices in the case of unstable peritrochanteric fractures. Experiences with the newly developed gamma nail internal fixation technique are promising. The fixation is stable, complication rates are low, and fractures of the gamma nail itself have not been reported before. From the Dutch experience, the authors describe the four known cases of implant failure. In cases in which the process of bony healing is disturbed, the dynamic stresses during ambulation become large enough to cause metal fatigue fractures. In these cases adjuvant and appropriate measures should be undertaken.
Aged↗
Prospective randomized comparison of teres cardiopexy and Nissen fundoplication in the surgical therapy of gastro-oesophageal reflux disease.
Teres cardiopexy was compared with Nissen fundoplication in a prospective randomized study of surgery for gastro-oesophageal reflux disease refractory to medical treatment. Follow-up at 3 months of ten patients undergoing each procedure showed good clinical results and improvement of the mean symptom score in both groups, for cardiopexy from 7.8 to 1.1 (P < 0.01) and for fundoplication from 5.7 to 0.2 (P < 0.01). After 1 year, six of the ten patients undergoing cardiopexy required a second antireflux procedure because of recurrent disease, whereas one reoperation was performed after fundoplication. The mean symptom score after 1 year was higher in patients submitted to cardiopexy than in those receiving fundoplication (3.9 versus 0.3, P < 0.01). The mean endoscopic oesophagitis score after 1 year was no different from preoperative values after cardiopexy (1.9 versus 1.9) but was significantly lower after fundoplication (1.5 versus 0.3, P = 0.01). Ambulatory 24-h pH monitoring showed a significantly higher proportion of total time at pH < 4 after cardiopexy than fundoplication (24.0 versus 3.8 per cent, P < 0.05). Cardiopexy is significantly less effective than fundoplication for the treatment of gastro-oesophageal reflux disease assessed at 1-year follow-up. This study does not support the use of cardiopexy either in conventional or laparoscopic antireflux surgery.
Adult↗
Transmural ischaemic colitis following operation for ruptured abdominal aortic aneurysm.
A total of 20 patients with transmural ischaemic colitis following operation for ruptured abdominal aortic aneurysm were studied (4 retrospectively and 16 prospectively). The diagnosis was made during laparotomy in five patients and by flexible sigmoidoscopy in 15 patients. Eighteen patients underwent large bowel resection (11 left-sided hemicolectomy, 7 subtotal colectomy). None of the 20 patients survived long enough to leave the hospital. The unfavourable prognosis of transmural ischaemic colitis following emergency abdominal aortic aneurysmectomy makes an early diagnosis by routine postoperative endoscopy mandatory and questions bowel resection in these patients.
Aged↗