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51.
JM Wilmshurst NH Thomas RO Robinson JB Bingham KRE Pohl 《Acta paediatrica (Oslo, Norway : 1992)》2001,90(6):691-703
This study assesses the frequency of lower limb and back pain in children with Guillain-Barré syndrome and reviews the magnetic resonance imaging results of those undergoing spinal imaging. Over an 8-y period, nine children presented with various combinations of severe back pain, leg pains, impairment of gait and bladder dysfunction. Guillain-Barré syndrome was confirmed on clinical examination and peripheral electrophysiology ( n = 8). Magnetic resonance imaging in four patients, following contrast injection, showed enhancement of the cauda equine and, additionally, of the cervical nerve roots in one of the patients. A further patient, who was not scanned with contrast, had abnormal thickening of the lumbar roots. Carbamazepine and steroids were effectively used for analgesia in three cases. All the patients recovered.
Conclusion: Guillain-Barré syndrome should be considered in the differential diagnosis of children presenting with back and/or leg pain. Early diagnosis ensures prompt monitoring for autonomic dysfunction and respiratory compromise. 相似文献
Conclusion: Guillain-Barré syndrome should be considered in the differential diagnosis of children presenting with back and/or leg pain. Early diagnosis ensures prompt monitoring for autonomic dysfunction and respiratory compromise. 相似文献
52.
Maha Abdulhadi‐Atwan Tehila Klopstock Muna Sharaf Ariella Weinberg‐Shukron Paul Renbaum Ephrat Levy‐Lahad David Zangen 《American journal of medical genetics. Part A》2020,182(5):1268-1272
Processing of Precursor RNA 1 (POP1) is a core protein component shared by two essential closely related eukaryotic ribonucleoprotein complexes: RNase MRP (the mitochondrial RNA processing ribonuclease) and RNase P. Recently, five patients harboring mutations in POP1 have been reported with severe spondylo‐epi‐metaphyseal dysplasia and extremely short stature. We report a unique clinical phenotype resulting from the novel homozygous R211Q POP1 mutation in three patients from one family, presenting with severe short stature but only subtle skeletal dysplastic changes that are merely metaphyseal. The RNA moiety of the RNase‐MRP complex quantified in RNA extracted from peripheral lymphocytes was dramatically reduced in affected patients indicating instability of the enzymatic complex. However, pre5.8s rRNA, a substrate of RNase‐MRP complex, was not accumulated in patients' RNA unlike in the previously reported POP1 mutations; this may explain the uniquely mild phenotype in our cases, and questions the assumption that alteration in ribosomal biogenesis is the pathophysiological basis for skeletal disorders caused by POP1 mutations. Finally, POP1 mutations should be considered in familial cases with severe short stature even when skeletal dysplasia is not strongly evident. 相似文献
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Resistance to falciparum malaria among adults in central Sudan 总被引:2,自引:0,他引:2
R A Bayoumi A H Bashir N H Abdulhadi 《The American journal of tropical medicine and hygiene》1986,35(1):45-55
Adults claiming resistance to malaria were identified in the Sennar region of central Sudan, where P. falciparum is hyperendemic but seasonal in transmission. Indirect fluorescent antibody (IFA) titers of sera from these individuals were comparable to those of malaria patients with positive blood films, indicating equal exposure, while in vitro antiparasitic activity of their sera tended to be higher, indicating an effective immunological response to falciparum malaria. Hemoglobin S (Hb S) was significantly more prevalent in adults resistant to malaria. This trait offers protection at the erythrocyte level and it is also possible that it could enhance the ability of carrier adults to acquire protective immunity. Erythrocyte 6-phosphogluconate dehydrogenase A (PGDA) and phosphoglucomutase 1 (PGM1), phenotypes of unknown relevance to protection against falciparum malaria, were also significantly more prevalent in those claiming resistance to malaria. A trend of higher prevalence for erythrocyte glucose-6-phosphate dehydrogenase deficiency (G6PD-), Kell (+) and transferrin D (TfD) was detected among resistant individuals and higher KP(a+) and P2 among malaria patients, but the numbers evaluated in this study did not allow determination of statistical significance. No association was found with erythrocyte glyoxalases, ABO and Duffy blood groups and serum haptoglobins. 相似文献
56.
A girl aged 2.5 years with "covert toxocariasis" was treated with low-dose diethylcarbamazine because of supposed noticeable disseminated Toxocara canis infection without ocular or visceral manifestations. There was marked blood and bone marrow eosinophilia, significant increased Toxocara canis antibody (ELISA) and immunoglobulins E, G and M, leucocytosis and an increased sedimentation rate. She had no geophagia, but often sucked small stones, probably contaminated with faeces from puppies. Symptoms were fever, inactivity, weakness, tiredness and loss of appetite. She was followed clinically and with blood samples throughout a period of three years and four months. 相似文献
57.
OBJECTIVES: To determine the relative cost-effectiveness of the inhaled corticosteroids beclomethasone dipropionate (BDP), budesonide (BUD), and fluticasone propionate (FP), for managing moderate to severe asthma in adults over a one-year time horizon from the perspective of the Ministry of Health (MOH) in Canada.
METHODS: A single-arm meta-analysis of randomized control trials containing at least one of FP, BUD, and BDP was performed in order to derive estimates of effectiveness and tolerance. A decision tree analysis was then used to model the cost-effectiveness analysis. Only direct medical costs were included in the analysis (i.e., inpatient care, emergency visits, physician services, nursing services, drugs, diagnostic tests). The time horizon of the study was 52 weeks, precluding discounting. All costs are presented in 1996 Canadian dollars (CDN$). The cost-effectiveness was the cost per additional symptom-free day ($/SFD).
RESULTS: 69 of 398 articles were included in the metaanalysis. The Monte Carlo base case analysis showed that FP and BUD resulted in an annual cost of $1,383 and $1,147 respectively (p > 0.01). FP produced 216 SFDs while BUD resulted in 214 SFDs, which were not significantly different at p = 0.01 (corrected for multiple comparisons). BDP cost $1,343/year and yielded 213 SFD/year (BDP was excluded from the final analysis, dominated by BUD). With no difference in effectiveness, a cost-minimization analysis showed that BUD was the cost-effective alternative, costing $236 CDN less than the FP strategy.
CONCLUSIONS: Of the inhaled corticosteroids available on the MOH Formulary in Canada, BUD is a costeffective alternative for the treatment of adults with moderate to severe asthma. 相似文献
METHODS: A single-arm meta-analysis of randomized control trials containing at least one of FP, BUD, and BDP was performed in order to derive estimates of effectiveness and tolerance. A decision tree analysis was then used to model the cost-effectiveness analysis. Only direct medical costs were included in the analysis (i.e., inpatient care, emergency visits, physician services, nursing services, drugs, diagnostic tests). The time horizon of the study was 52 weeks, precluding discounting. All costs are presented in 1996 Canadian dollars (CDN$). The cost-effectiveness was the cost per additional symptom-free day ($/SFD).
RESULTS: 69 of 398 articles were included in the metaanalysis. The Monte Carlo base case analysis showed that FP and BUD resulted in an annual cost of $1,383 and $1,147 respectively (p > 0.01). FP produced 216 SFDs while BUD resulted in 214 SFDs, which were not significantly different at p = 0.01 (corrected for multiple comparisons). BDP cost $1,343/year and yielded 213 SFD/year (BDP was excluded from the final analysis, dominated by BUD). With no difference in effectiveness, a cost-minimization analysis showed that BUD was the cost-effective alternative, costing $236 CDN less than the FP strategy.
CONCLUSIONS: Of the inhaled corticosteroids available on the MOH Formulary in Canada, BUD is a costeffective alternative for the treatment of adults with moderate to severe asthma. 相似文献
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Abdulrahman Al-Hussaini Abdulhadi Altalhi Imad El Hag Hussa AlHussaini Paola Francalanci Isabella Giovannoni Francesco Callea 《Saudi Journal Of Gastroenterology》2014,20(4):255-261
The mutation γ375Arg → Trp (fibrinogen Aguadilla) is one of four mutations (Brescia, Aguadilla, Angers, and AI duPont) capable of causing hepatic storage of fibrinogen. It has been observed in four children from the Caribbean, Europe, and Japan, suffering from cryptogenic liver disease. We report the first case of hepatic fibrinogen storage disease in Arabs due to a mutation in the fibrinogen γ-chain gene in a 3-year-old Syrian girl presenting with elevated liver enzymes. The finding of an impressive accumulation of fibrinogen in liver cells raised the suspicion of endoplasmic reticulum storage disease. Sequencing of the fibrinogen genes revealed a γ375Arg → Trp mutation (fibrinogen Aguadilla) in the child and in her father. In conclusion, when confronted with chronic hepatitis of unknown origin, one should check the plasma fibrinogen level and look carefully for the presence of hepatocellular intracytoplasmic globular inclusions to exclude hepatic fibrinogen storage disease. 相似文献
60.
NH THIES 《Journal of paediatrics and child health》1997,33(4):349-351
Abstract: Five children with cystic fibrosis (CF) and chronic suppurative lung disease had eicosapentaenoic acid (EPA) supplementation for 12 months. Outcome was measured by the change in frequency of admissions/bed days while taking EPA compared to the previous 2 years. Although no significant changes occurred, there is an indication that this treatment may benefit children who don't have end-stage disease. Further studies are indicated in the use of this neglected mode of treatment. 相似文献