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- Strömland, Kerstin, 1934, et al.
(författare)
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Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors.
- 2007
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Ingår i: American Journal of Medical Genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 143A:12, s. 1317-1325
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Tidskriftsartikel (refereegranskat)abstract
- Swedish patients with the oculo-auriculo-vertebral (OAV) spectrum participated in a prospective multidisciplinary investigation. The aims of the study were to describe their systemic and functional defects, especially autism spectrum disorders, and to search for possible etiologic risk factors. Available medical records were studied and the mothers answered a questionnaire on history of prenatal events. A clinical examination evaluating systemic findings, vision, hearing, speech, oral and swallowing function, and neuropsychiatric function, especially autism, was made. Eighteen patients, (11 males, 7 females) aged 8 months to 17 years with OAV were studied. Most frequent systemic malformations included, ear abnormalities (100%), ocular malformations (72%), vertebral deformities (67%), cerebral anomalies (50%), and congenital heart defects (33%). Functional defects consisted of hearing impairment (83%), visual impairment (28%), both visual and hearing impairment (28%), difficulties in feeding/eating (50%), speech (53%), mental retardation (39%), and severe autistic symptoms (11%). Three children were born following assisted fertilization (two intracytoplasmatic sperm injection, one in vitro fertilization), two mothers reported early bleedings, and six (33%) mothers had smoked during pregnancy.
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| 5. |
- Larsson, Eva, et al.
(författare)
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Peripheral and central visual fields in 11-year-old children who had been born prematurely and at term
- 2004
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Ingår i: Journal of pediatric ophthalmology and strabismus. - : SLACK, Inc.. - 0191-3913 .- 1938-2405. ; 41, s. 39-
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: To examine the peripheral and central visual fields in children who had been born prematurely and at term. METHODS: Four groups of 11-year-old children were examined: group 1 included 24 children who had been born at term (control group); group 2 included 20 children who had been born prematurely without ROP; group 3 included 22 children who had been born prematurely with untreated ROP (stages 2 and 3); and group 4 included 21 children who had been born prematurely and underwent cryotreatment for severe ROP. Their peripheral visual fields were examined with Goldmann perimetry. Static high-pass resolution perimetry was used to evaluate their central visual fields within 30 degrees. RESULTS: The peripheral visual fields were constricted in children who had undergone cryotreatment (group 4), as compared with the other groups (1 to 3). We found no difference between the groups of children who had been born prematurely with or without ROP (groups 2 and 3) and the control group. The function of the central visual fields, expressed as neural capacity, was reduced in the children who had been born prematurely compared with the controls, significantly in their left eyes only. The children who underwent cryotreament did not differ from the other children who had been born prematurely in this respect. CONCLUSIONS: The peripheral visual fields were constricted in children who had undergone cryotreatment. It is uncertain whether this was caused by the treatment or by severe ROP. The central visual fields showed a tendency of reduced neural capacity in the children who had been born prematurely, reflecting a reduced density of retinocortical neural channels. However, this was not related to ROP or cryotreatment.
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- Toporski, Jacek, et al.
(författare)
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High-dose iodine-131-metaiodobenzylguanidine with haploidentical stem cell transplantation and posttransplant immunotherapy in children with relapsed/refractory neuroblastoma.
- 2009
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Ingår i: Biology of Blood and Marrow Transplantation. - : Elsevier BV. - 1083-8791. ; 15:9, s. 1077-1085
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Tidskriftsartikel (refereegranskat)abstract
- We evaluated the feasibility and efficacy of using high-dose iodine-131-metaiodobenzylguanidine ((131)I-MIBG) followed by reduced-intensity conditioning (RIC) and transplantation of T cell-depleted haploidentical peripheral blood stem cells (designated haplo-SCT) to treat relapsing/refractory neuroblastoma (RRNB). Five RRNB patients were enrolled: 4 with relapse (3 after autologous SCT) and 1 with induction therapy failure. The preparative regimen included high-dose (131)I-MIBG on day -20, followed by fludarabine (Flu), thiotepa, and melphalan (Mel) from day -8 to -1. Granulocyte-colony stimulating factor (G-CSF)-mobilized, T cell-depleted haploidentical paternal stem cells were infused on day 0 together with cultured donor mesenchymal stem cells. A single dose of rituximab was given on day +1. After cessation of short immunosuppression (mycophenolate, OKT3), 4 children received donor lymphocyte infusion (DLI). (131)I-MIBG infusion and RIC were well tolerated. All patients engrafted. No primary acute graft-versus-host disease (aGVHD) was observed. Four children developed aGVHD after DLI and were successfully treated. Analysis of immunologic recovery showed fast reappearance of potentially immunocompetent natural killer (NK) and T cells, which might have acted as effector cells responsible for the graft-versus-tumor (GVT) effect. Two children are alive and well, with no evidence of disease 40 and 42 months after transplantation. One patient experienced late progression with new bone lesions (sternum) 38 months after haplo-SCT, and is being treated with local irradiation and reinstituted DLI. One patient rejected the graft, was rescued with autologous backup, and died of progressive disease 5 months after transplantation. Another child relapsed 7 months after transplantation and died 5 months later. High-dose (131)I-MIBG followed by RIC and haplo-SCT for RRNB is feasible and promising, because 2 of 5 children on that regimen achieved long-lasting remission. Further studies are needed to evaluate targeted therapy and immune-mediated tumor control in high-risk neuroblastoma.
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| 10. |
- Arnell, Kai, et al.
(författare)
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Evaluation of Strata NSC and Codman Hakim adjustable cerebrospinal fluid shunts and their corresponding antisiphon devices : laboratory investigation
- 2009
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Ingår i: Journal of Neurosurgery. - : American Association of Neurological Surgeons. - 1933-0707 .- 1933-0715. ; 3:3, s. 166-172
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Tidskriftsartikel (refereegranskat)abstract
- OBJECT: The authors investigated and compared the in vitro characteristics of 2 CSF shunts, the Strata NSC and the Codman Hakim, and their corresponding antisiphon devices (ASDs).METHODS: Six new CSF shunts and the corresponding ASDs for each model were tested in an automated, computerized experimental setup based on pressure regulation. Opening pressure accuracy, resistance, sensitivity to abdominal pressure, antisiphon effect, and the influence of different ASD positions were determined.RESULTS: In general the shunts performed according to the manufacturers' specifications. However, at the lowest setting, the opening pressure of the Strata NSC was close to 0, and in the Codman Hakim shunt, it was higher than specified. The resistance in the Codman Hakim shunt (5.4 mm Hg/ml/min) was much higher than that in the Strata NSC (3.6 mm Hg/ml/min). Abdominal pressure affected opening pressure in both valves. Positioning the Strata ASD above or below the ventricular catheter tip resulted in higher and lower opening pressures, respectively, than when it was placed in line with the catheter. The positioning of the Codman Hakim ASD did not influence the opening pressure.CONCLUSIONS: Both CSF shunts work properly, but at the lowest setting the opening pressure of the Strata NSC was near 0 and in the Codman Hakim it was twice the manufacturer's specifications. The resistance in the Strata NSC was below the normal physiological range, and in the Codman Hakim device it was in the lower range of normal. The ASD did not change the shunt characteristics in the lying position and therefore might not do so in children. If this is the case, then a shunt system with an integrated ASD could be implanted at the first shunt insertion, thus avoiding a second operation and the possibility of infection.
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