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1.
Sissa Brito dos Santos Aurélia Bertholet-Thomas Marine Butin Laurence Dubourg Alain Fouilhoux Justine Bacchetta 《Archives de pédiatrie》2021,28(4):338-341
The main clinical features of tyrosinemia type 1 usually appear in the first months of life, including fever, diarrhea, vomiting, liver involvement, growth failure, and renal proximal tubulopathy with subsequent hypophosphatemic rickets. An early diagnosis is crucial in order to provide specific management and to prevent complications. Here, we report on two cases referred primarily to pediatric nephrologists for the diagnosis of “neonatal tubulopathy” and management of “X-linked hypophosphatemia (XLH),” respectively. Our aim is to emphasize that (1) even a mixed tubulopathy can reveal tyrosinemia, and (2) tyrosinemia is a classic differential diagnosis of XLH that should not be forgotten, especially in the era of the anti-FGF23 burosumab. 相似文献
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Andressa A.F.L. Maciel Reinaldo B. Ori Manuel B. Braga-Neto Andra B. Braga Eunice B. Carvalho Herene B.M. Lucena Gerly A.C. Brito Richard L. Guerrant Aldo A.M. Lima 《Toxicon》2007,50(8):1027-1040
Vitamin A (retinol), a fat-soluble vitamin, is an essential nutrient for the normal functioning of the visual system, epithelial cell integrity and growth, immunity, and reproduction. Our group has investigated the effect of high doses of oral vitamin A on early childhood diarrhea in our prospective community-based studies from Northeast Brazil and found a beneficial role in reducing the mean duration but not incidence of diarrheal episodes. In this study, we explored the role of retinol supplementation in intestinal cell lines following Clostridium difficile toxin A (TxA) challenge. C. difficile is the most common anaerobic pathogen borne with antibiotic-borne diarrhea and pseudomembranous colitis. Since retinol is critical for the integrity of tight junctions and to modulate the cell cycle, we have focused on changes in transepithelial electrical resistance (TEER) in Caco-2, a more differentiated intestinal cell line, and on models of cell proliferation, migration and viability in IEC-6 cells, an undifferentiated crypt cell line, following TxA injury. In this model, retinol therapy reduced apoptosis, improved cell migration and proliferation, and prevented the reduction in TEER, following C. difficile TxA challenge in a glutamine-free medium. These results suggest the role of retinol in protecting intestinal epithelial barrier function from C. difficile TxA enterotoxic damage. 相似文献
4.
Heloísio de Rezende Leite Guilherme Silvério de Oliveira Hélio Henrique de Araújo Brito 《American journal of orthodontics and dentofacial orthopedics》2005,128(2):241-251
This case report demonstrates how extracting a maxillary deciduous canine affects the eruption path of a labially displaced ectopically erupting permanent canine. A long-term follow-up is presented, and the biologic mechanisms are discussed. 相似文献
5.
Irene B. Jensen Catarina Dahlquist Åke Nygren Eva Royen Monica Stenberg 《Journal of occupational rehabilitation》1997,7(4):225-238
This prospective randomized controlled outcome study was designed to evaluate whether a MultiModal Cognitive—Behavioral Treatment for chronic spinal pain (MMCBT) specifically designed for women has an increased effect on well being and return to work compared to a regular MMCBT regimen. In Sweden, spinal pain is most prevalent among women. A tremendous amount of money is spent on secondary prevention of spinal pain. Yet, little is known about the effect of the interventions. A need for well designed outcome studies exist. Fifty-four subjects from a cohort of all registered sick-listed women in three districts of Stockholm participated in the study. Subjects were allocated by central randomization into two groups. One group was treated with a regular MMCBT program and the other group with a MMCBT program specifically designed for women. Assessments were performed at pretreatment–posttreatment (last treatment day) and at 6 and 18 months posttreatment. Questionnaires covering the bio-psycho-social spectra of the chronic pain syndrome, and sick leave were used to measure outcome. Intention to treat and true to protocol analyses were performed. The only significant differences found between groups were improvements in self-reported disability and in coping with pain, favoring the experimental treatment. About one-third of the variance in disability was explained by the set of pain-coping strategies assessed in the study. The results do not lend sufficient statistical support to warrant acceptance of the experimental treatment as superior to the regular treatment in improving health and sick leave. Further investigation with larger groups is needed before a solid scientific conclusion can be drawn. 相似文献
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Shelley E Taylor Barbara J Lehman Catarina I Kiefe Teresa E Seeman 《Neuropsychopharmacology》2006,60(8):819-824
BACKGROUND: Low socioeconomic status (SES) and a harsh family environment in childhood have been linked to mental and physical health disorders in adulthood. The objective of the present investigation was to evaluate a developmental model of pathways that may help explain these links and to relate them to C-reactive protein (CRP) in the Coronary Artery Risk Development in Young Adults (CARDIA) dataset. METHODS: Participants (n = 3248) in the CARDIA study, age 32 to 47 years, completed measures of childhood SES (CSES), early family environment (risky families [RF]), adult psychosocial functioning (PsyF, a latent factor measured by depression, mastery, and positive and negative social contacts), body mass index (BMI), and C-reactive protein. RESULTS: Structural equation modeling indicated that CSES and RF are associated with C-reactive protein via their association with PsyF (standardized path coefficients: CSES to RF, RF to PsyF, PsyF to CRP, CSES to CRP, all p < .05), with good overall model fit. The association between PsyF and CRP was partially mediated by BMI (PsyF to BMI, BMI to CRP, both p < .05). CONCLUSIONS: Low childhood SES and a harsh early family environment appear to be related to elevated C-reactive protein in adulthood through pathways involving psychosocial dysfunction and high body mass index. 相似文献
8.
Catarina Gonzalez da Silva Karl Magnus Petersson Luís Faísca Martin Ingvar Alexandra Reis 《Journal of clinical and experimental neuropsychology》2004,26(2):266-277
Semantic verbal fluency tasks are commonly used in neuropsychological assessment. Investigations of the influence of level of literacy have not yielded consistent results in the literature. This prompted us to investigate the ecological relevance of task specifics, in particular, the choice of semantic criteria used. Two groups of literate and illiterate subjects were compared on two verbal fluency tasks using different semantic criteria. The performance on a food criterion (supermarket fluency task), considered more ecologically relevant for the two literacy groups, and an animal criterion (animal fluency task) were compared. The data were analysed using both quantitative and qualitative measures. The quantitative analysis indicated that the two literacy groups performed equally well on the supermarket fluency task. In contrast, results differed significantly during the animal fluency task. The qualitative analyses indicated differences between groups related to the strategies used, especially with respect to the animal fluency task. The overall results suggest that there is not a substantial difference between literate and illiterate subjects related to the fundamental workings of semantic memory. However, there is indication that the content of semantic memory reflects differences in shared cultural background--in other words, formal education--, as indicated by the significant interaction between level of literacy and semantic criterion. 相似文献
9.
Evolution with age of the acetylcholinesterase activity in rectal suction biopsy in Hirschsprung's disease 总被引:5,自引:0,他引:5
The acetylcholinesterase (AChE) activity in Hirschsprung's disease was analyzed for histochemical patterns according to age. Its evolutional nature was also assessed. Two hundred thirty children (0 to 16 years of age) with acute or chronic obstipation were submitted to rectal suction biopsy for AChE histochemical staining. One hundred nineteen of them showed abnormal AChE activity. Retrospective analysis of those cases permitted us to establish three histochemical patterns: Pattern I, thick nerve trunks present only in the submucosa and, characteristically, absence of AChE activity in the lamina propria. This pattern was predominant in newborn up to 3 months of age and was designated the newborn pattern. Pattern II, thin nerve fibers in the muscularis mucosae and submucosa with a clear infiltration in the lamina propria. This pattern was mainly seen in children older than 1 year of age and was called classical pattern. Pattern III, an intermediate pattern showing morphologic characteristics of the two previous patterns with predominance of one or another, according to the age. A prospective study was also made in 15 children with Hirschsprung's disease who were submitted to suction rectal biopsies at different ages. In this study, a clear evolutional character of the AChE activity was observed from the newborn pattern to the intermediate and finally to the classical pattern. 相似文献
10.
Joao Colaco Vitor Goncalves Catarina Pinto Clara Castro Agueda Vieira Helio Retto 《Gynecological surgery》2007,4(3):223-224
New techniques of sling placement may be associated with infectious complications. Slings through the obturator foramen and
thigh can lead to a significant abscess formation within the thigh adductor muscles. A large thigh abscess associated with
a transobturator sling was diagnosed and treated. The authors report the evaluation and treatment of a unique infectious complication
of transobturator slings. 相似文献