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1.
J Child Neurol ; 35(13): 901-907, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32720856

RESUMO

Genetically determined leukoencephalopathies comprise a group of rare inherited white matter disorders. The majority are progressive diseases resulting in early death. We performed a cross-sectional pilot study including 55 parents from 36 families to assess the level of stress experienced by parents of patients with genetically determined leukoencephalopathies, aged 1 month to 12 years. Thirty-four mothers and 21 fathers completed the Parenting Stress Index-4th Edition. One demographic questionnaire was completed per family. Detailed clinical data was gathered on all patients. Statistical analysis was performed with total stress percentile score as the primary outcome. Mothers and fathers had significantly higher stress levels compared with the normative sample; 20% of parents had high levels of stress whereas 11% had clinically significant levels of stress. Mothers and fathers had comparable total stress percentile scores. We identified pediatric behavioral difficulties and gross motor function to be factors influencing stress in mothers. Our study is the first to examine parental stress in this population and highlights the need for parental support early in the disease course. In this pilot study, we demonstrated that using the Parenting Stress Index-4th Edition to assess stress levels in parents of patients with genetically determined leukoencephalopathies is feasible, leads to valuable and actionable results, and should be used in larger, prospective studies.


Assuntos
Leucoencefalopatias/psicologia , Pais/psicologia , Estresse Psicológico/psicologia , Adulto , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Masculino , Projetos Piloto , Inquéritos e Questionários
2.
Nat Commun ; 9(1): 938, 2018 03 05.
Artigo em Inglês | MEDLINE | ID: mdl-29507295

RESUMO

Microtubule asters must be positioned precisely within cells. How forces generated by molecular motors such as dynein are integrated in space and time to enable such positioning remains unclear. In particular, whereas aster movements depend on the drag caused by cytoplasm viscosity, in vivo drag measurements are lacking, precluding a thorough understanding of the mechanisms governing aster positioning. Here, we investigate this fundamental question during the migration of asters and pronuclei in C. elegans zygotes, a process essential for the mixing of parental genomes. Detailed quantification of these movements using the female pronucleus as an in vivo probe establish that the drag coefficient of the male-asters complex is approximately five times that of the female pronucleus. Further analysis of embryos lacking cortical dynein, the connection between asters and male pronucleus, or the male pronucleus altogether, uncovers the balance of dynein-driven forces that accurately position microtubule asters in C. elegans zygotes.


Assuntos
Proteínas de Caenorhabditis elegans/metabolismo , Caenorhabditis elegans/metabolismo , Dineínas/metabolismo , Microtúbulos/metabolismo , Zigoto/metabolismo , Animais , Núcleo Celular/metabolismo , Centrossomo/metabolismo , Citoplasma/química , Embrião não Mamífero/metabolismo , Feminino , Masculino , Viscosidade
3.
Clin Oral Investig ; 22(8): 2933-2941, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29442188

RESUMO

OBJECTIVES: Damage-regulated autophagy modulator (DRAM) 1 is a p53 target gene with possible involvement in oral inflammation and infection. This study sought to examine the presence and regulation of DRAM1 in periodontal diseases. MATERIAL AND METHODS: In vitro, human periodontal ligament fibroblasts were exposed to interleukin (IL)-1ß and Fusobacterium nucleatum for up to 2 days. The DRAM1 synthesis and its regulation were analyzed by real-time PCR, immunocytochemistry, and ELISA. Expressions of other autophagy-associated genes were also studied by real-time PCR. In vivo, synthesis of DRAM1 in gingival biopsies from rats and patients with and without periodontal disease was examined by real-time PCR and immunohistochemistry. For statistics, ANOVA and post-hoc tests were applied (p < 0.05). RESULTS: In vitro, DRAM1 was significantly upregulated by IL-1ß and F. nucleatum over 2 days and a wide range of concentrations. Additionally, increased DRAM1 protein levels in response to both stimulants were observed. Autophagy-associated genes ATG3, BAK1, HDAC6, and IRGM were also upregulated under inflammatory or infectious conditions. In vivo, the DRAM1 gene expression was significantly enhanced in rat gingival biopsies with induced periodontitis as compared to control. Significantly increased DRAM1 levels were also detected in human gingival biopsies from sites of periodontitis as compared to healthy sites. CONCLUSION: Our data provide novel evidence that DRAM1 is increased under inflammatory and infectious conditions in periodontal cells and tissues, suggesting a pivotal role of DRAM1 in oral inflammation and infection. CLINICAL RELEVANCE: DRAM1 might be a promising target in future diagnostic and treatment strategies for periodontitis.


Assuntos
Fibroblastos/efeitos dos fármacos , Fusobacterium nucleatum , Proteínas de Membrana/biossíntese , Adolescente , Animais , Autofagia , Biópsia , Criança , Ensaio de Imunoadsorção Enzimática , Humanos , Imuno-Histoquímica , Técnicas In Vitro , Interleucina-1beta/farmacologia , Ligamento Periodontal/citologia , Periodontite/microbiologia , Ratos , Reação em Cadeia da Polimerase em Tempo Real , Regulação para Cima
4.
Clin Exp Allergy ; 38(3): 529-38, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18201249

RESUMO

BACKGROUND: We already demonstrated that adoptive transfer of alveolar macrophages (AMs) from non-allergic rats into AM-depleted allergic rats prevents airway hyperresponsiveness (AHR). We also showed that AMs from non-sensitized, but not from sensitized, allergy-prone rats can prevent AHR following allergen challenge in sensitized allergic animals, establishing the importance of rat immunological status on the modulation of AM functions and suggesting that an allergic lung environment alters AM functions. OBJECTIVE: We investigated how the activation of allergic AMs can be modulated to reinstitute them with their capacity to reduce AHR. METHODS: AMs from sensitized Brown Norway rats were cultured ex vivo for up to 18 h in culture media to deprogram them from the influence of the allergic lung before being reintroduced into the lung of AM-depleted sensitized recipient. AHR and cytokines in bronchoalveolar lavage (BAL) were measured following allergen challenge. AMs stimulated ex vivo with Bacillus Calmette-Guerin (BCG) were used as positive controls as BCG induces a T-helper type 1 activation in AMs. RESULTS: AMs ex vivo cultured for 4-18 h reduced AHR to normal level. Interestingly, pro-allergic functions of AMs were dampened by 18 h culture and they reduced AHR even after spending 48 h in an allergic lung microenvironment. Furthermore, transfer of cultured AMs caused an increase in the levels of IFN-gamma and IL-12 in BAL when compared with their ovalbumin control. After 18 h of ex vivo culture, AMs expressed reduced levels of TNF, IL-1alpha, IL-6, and Arginase-2 mRNAs compared with freshly isolated AMs, suggesting that ex vivo culture exempted AMs from lung stimuli that affected their functions. CONCLUSIONS: There is a significant crosstalk between lung microenvironment and AMs, affecting their functions. It is also the first report showing that sensitized AMs can be modulated ex vivo to reduce lung pro-allergic environment, opening the way to therapies targetting AMs.


Assuntos
Hiper-Reatividade Brônquica/fisiopatologia , Hipersensibilidade/patologia , Macrófagos Alveolares , Animais , Arginase/genética , Líquido da Lavagem Broncoalveolar/química , Separação Celular , Células Cultivadas , Citocinas/análise , Citocinas/biossíntese , Citocinas/genética , Hipersensibilidade/imunologia , Hipersensibilidade/metabolismo , Lipossomos/farmacologia , Macrófagos Alveolares/efeitos dos fármacos , Macrófagos Alveolares/imunologia , Macrófagos Alveolares/patologia , Ovalbumina/imunologia , RNA Mensageiro/metabolismo , Ratos , Ratos Endogâmicos BN , Fatores de Tempo
5.
Clin Exp Immunol ; 146(3): 409-16, 2006 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-17100759

RESUMO

Inherited C1q deficiency is associated strongly with the development of systemic lupus erythematosus (SLE). The aim of our study was to evaluate the ability of monocytes from SLE patients without inherited C1q deficiency to up-regulate C1q-mRNA upon stimulation. Furthermore, we wanted to elucidate the physiological stimulus for up-regulation of C1q-mRNA. Peripheral blood mononuclear cell (PBMC)-derived monocytes from 10 SLE patients, 10 patients with rheumatoid arthritis (RA) and 10 healthy controls (HC) were stimulated with dexamethasone (DXM), interferon-gamma or both. Additionally, purified monocytes from HC were stimulated with interleukin (IL)-10. C1q-mRNA expression was measured by quantitative reverse transcription-polymerase chain reaction (RT-PCR). C1q protein was detected using the standard alkaline phosphatase/anti-alkaline phosphatase (APAAP) technique. SLE monocytes were significantly less able to up-regulate C1q-mRNA when compared to RA or HC. IL-10 was identified as an important stimulus for C1q synthesis. In SLE patients there is a significant functional impairment of monocytes to synthesize C1q upon stimulation. As C1q is linked to the process of recognition and removal of apoptotic cells, this relative C1q deficiency is likely to contribute to the reduced phagocytosis of apoptotic material observed in SLE and thereby might be a central pathogenetic factor.


Assuntos
Complemento C1q/biossíntese , Lúpus Eritematoso Sistêmico/imunologia , Monócitos/imunologia , Adulto , Anti-Inflamatórios/farmacologia , Artrite Reumatoide/imunologia , Células Cultivadas , Complemento C1q/genética , Dexametasona/farmacologia , Feminino , Humanos , Técnicas Imunoenzimáticas , Interferon gama/imunologia , Interleucina-10/imunologia , Pessoa de Meia-Idade , RNA Mensageiro/genética , Regulação para Cima/efeitos dos fármacos , Regulação para Cima/imunologia
6.
Calcif Tissue Int ; 78(5): 278-84, 2006 May.
Artigo em Inglês | MEDLINE | ID: mdl-16691493

RESUMO

Ameloblastin (Ambn, also named "amelin" or "sheathlin") is a protein participating in enamel formation and mesenchymal-ectodermal interaction during early dentin formation in developing teeth. Experiments have demonstrated an association between Ambn expression and healing of acute pulp wounds. The purpose of this study was to investigate if local application of recombinant fusion Ambn (rAmbn) could influence reparative dentin formation in pulpotomized teeth. In this randomized, double-blinded study, pulpotomy was performed in 28 lower central incisors in 17 adult miniature pigs. Following the surgical procedure, the exposed pulp tissue was covered either with rAmbn or with calcium hydroxide. After 2, 4, or 8 weeks, the teeth were extracted and examined by histomorphometry and immunohistochemistry using antibodies against porcine ameloblastin, collagen type I, and dentin sialoprotein (DSP). In rAmbn-treated teeth, a substantial amount of newly formed reparative dentin was observed at the application site, completely bridging the pulpal wound. Dentin formation was also observed in calcium hydroxide-treated teeth; however, the amount of reparative dentin was significantly smaller (P < 0.001) than after rAmbn treatment. Immunohistochemistry confirmed that the new hard tissue formed was similar to dentin. This is the first time a direct link between ameloblastin and dentin formation has been made in vivo. The results suggest potential for rAmbn as a biologically active pulp-dressing agent for enhanced pulpal wound healing and reparative dentin formation after pulpotomy procedures.


Assuntos
Proteínas do Esmalte Dentário/genética , Polpa Dentária/efeitos dos fármacos , Dentina/efeitos dos fármacos , Dentinogênese/efeitos dos fármacos , Proteínas Recombinantes de Fusão/uso terapêutico , Regeneração/efeitos dos fármacos , Traumatismos Dentários/tratamento farmacológico , Animais , Polpa Dentária/metabolismo , Doenças da Polpa Dentária/tratamento farmacológico , Doenças da Polpa Dentária/metabolismo , Doenças da Polpa Dentária/fisiopatologia , Dentina/citologia , Dentina/metabolismo , Dentinogênese/fisiologia , Ratos , Ratos Sprague-Dawley , Proteínas Recombinantes de Fusão/genética , Proteínas Recombinantes de Fusão/farmacologia , Regeneração/fisiologia , Sus scrofa , Traumatismos Dentários/metabolismo , Traumatismos Dentários/fisiopatologia , Resultado do Tratamento , Cicatrização/efeitos dos fármacos , Cicatrização/fisiologia
7.
Clin Oral Investig ; 6(1): 51-7, 2002 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-11996163

RESUMO

According to recent studies, amelin (ameloblastin, sheathlin) is expressed in young odontoblasts at the initiation of dentin formation during odontogenesis. The purpose of the present investigation was to study whether amelin is also expressed at the onset of trauma-induced reparative dentin formation. The mandibular developing first molars of 5-day-old rats were surgically taken out, and their pulp tissue briefly separated from the inner dentin surface and immediately repositioned. Then the teeth were re-implanted in their alveoli. At 0, 2, 4, 6, 8, 12 or 14 days after surgery, the animals were sacrificed and the experimental teeth evaluated by histology and immunohistochemistry for amelin. At 2, 4, 6 and 8 days after surgery, the detached and traumatized odontoblasts in the experimental teeth exhibited increasing signs of degeneration and loss of intracellular structures. At days 6 and 8 after surgery, immunohistochemistry revealed a strong staining for amelin in the traumatized odontoblastic layer. Twelve and 14 days after replantation, only necrotic cell remnants of the traumatized odontoblasts were discernible. At this stage, no amelin could be detected by immunostaining. A wide zone of an unorganized mineralized tissue surrounded the odontoblastic cell remnants. On the pulpal side of the unorganized tissue, a new, highly organized tubular reparative dentin layer was observed, bordered by columnar odontoblast-like cells abutting on newly formed predentin. The results indicate that the initiation of trauma-induced reparative dentin formation mimics that of primary dentin formation and that amelin seems to be involved in both processes, possibly as a signaling molecule.


Assuntos
Proteínas do Esmalte Dentário/análise , Polpa Dentária/lesões , Dentina Secundária/fisiopatologia , Animais , Anticorpos , Colágeno , Corantes , Tecido Conjuntivo/patologia , Proteínas do Esmalte Dentário/genética , Polpa Dentária/patologia , Dentina Secundária/metabolismo , Dentina Secundária/patologia , Dentinogênese/fisiologia , Corantes Fluorescentes , Seguimentos , Expressão Gênica , Imuno-Histoquímica , Dente Molar , Necrose , Odontoblastos/metabolismo , Odontoblastos/patologia , Odontoblastos/fisiologia , Ratos , Ratos Sprague-Dawley
8.
Dig Dis Sci ; 45(11): 2162-7, 2000 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-11215732

RESUMO

To test the hypothesis that Helicobacter pylori may be transmitted by the oral-oral route, we applied nested PCR and DNA sequencing to detect and analyze H. pylori DNA in the oral cavity of 20 adult patients undergoing endoscopy. Dental plaques of molars, premolars, and incisors and saliva were collected. Additional paraffin-embedded gastric biopsies were analyzed in four patients. Two sets of highly sensitive and specific primers, EHC-U/EHC-L and ET5-U/ET-5L directed to a 860-bp fragment of H. pylori DNA, were used in the nested PCR. Eight patients had an active infection in the stomach determined with the [13C]urea breath test and the other 12 were negative. Nested PCR showed that all 20 subjects (100%) were positive for H. pylori in the oral cavity. DNA sequencing demonstrated that all tested PCR products of the expected size from the oral samples have more than 97% identity with that from H. pylori type strain ATCC 43629. However, sequences differed in oral samples from different subjects as well as between different oral locations and gastric biopsies within the same individuals. In conclusion, the oral cavity may be a permanent reservoir for H. pylori and can harbor multiple H. pylori strains at the same time.


Assuntos
Variação Genética , Infecções por Helicobacter/transmissão , Helicobacter pylori/genética , Mucosa Bucal/microbiologia , Adulto , Idoso , Feminino , Mucosa Gástrica/microbiologia , Infecções por Helicobacter/microbiologia , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase
9.
Am J Dent ; 13(5): 261-6, 2000 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-11764113

RESUMO

PURPOSE: To evaluate in vitro the marginal quality of Class II composite restorations at the gingival enamel margins as affected by contamination of the cavities with gingival fluid (GF) during different steps of resin bonding procedures. MATERIALS AND METHODS: 70 Class II cavities were prepared in extracted human molars and restored with composite using a multi-component bonding system (OptiBond FL/Herculite XRV; OPTI) or a single-bottle adhesive (Syntac Sprint/Tetric Ceram; SYN). The cavities were contaminated with human GF: C1 after acid etching, C2 after application of the primer (OPTI) or light-curing of the primer-adhesive (SYN), and C3 after light-curing of the resin adhesive (OPTI). Uncontaminated cavities were used as the control (C0). The restored teeth were subjected to thermocycling (TC) and replicated for SEM analysis of marginal gap formation. Microleakage at the gingival margins was determined by dye penetration with basic fuchsin. STATISTICS: non-parametric tests (Kruskal-Wallis test, Mann-Whitney test with Bonferroni correction). RESULTS: In both bonding systems, contamination with GF after acid etching (C1) did not impair the marginal quality; the mean percentages of continuous margin/mean depths of dye penetration were: OPTI: C0: 88.5%/0.10 mm, C1: 95.6%/0.04 mm; SYN: C0: 90.9%/0.08 mm, C1: 97.0%/0.05 mm. Marginal adaptation was adversely affected when GF contamination was performed after


Assuntos
Resinas Compostas/química , Adaptação Marginal Dentária , Restauração Dentária Permanente/classificação , Líquido do Sulco Gengival , Condicionamento Ácido do Dente , Adulto , Colagem Dentária , Preparo da Cavidade Dentária/classificação , Esmalte Dentário/ultraestrutura , Infiltração Dentária/classificação , Infiltração Dentária/patologia , Adesivos Dentinários/química , Humanos , Luz , Masculino , Microscopia Eletrônica de Varredura , Dente Molar , Cimentos de Resina/química , Corantes de Rosanilina , Estatística como Assunto , Estatísticas não Paramétricas , Propriedades de Superfície , Termodinâmica
10.
J Med Microbiol ; 49(4): 349-353, 2000 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-10755629

RESUMO

The precise mode of transmission and the natural reservoir for Helicobacter pylori are unknown. PCR assays have proved to be highly sensitive and specific and are regarded as the method of choice for detecting H. pylori DNA in the oral cavity. The aim of this study was to investigate the prevalence and distribution of H. pylori in the oral cavity. Forty-two patients undergoing gastroscopy were investigated for the presence of H. pylori in dental plaque and saliva by nested PCR, and in the stomach by the 13C-urea breath test. Samples tested comprised dental plaque from molars, premolars and incisors and saliva. Two sets of primers homologous to the 860-bp fragment of H. pylori DNA, which have been shown previously to be highly sensitive and specific, were used for nested PCR. Eleven patients (26.2%) were infected with H. pylori in the stomach. H. pylori DNA was identified in dental plaque samples from 41 patients (97%) and in 23 saliva samples (55%). The prevalence in dental plaque from molars, premolars and incisors was 82%, 64% and 59%, with an odds ratio of 3.18, 1.24 and 1 (reference), respectively. In conclusion, H. pylori was present in the oral cavity of 97% of tested patients, with a characteristic distribution that was independent of the infection status of the stomach. Thus H. pylori may belong to the normal oral microflora.


Assuntos
Placa Dentária/microbiologia , Helicobacter pylori/isolamento & purificação , Saliva/microbiologia , Adulto , Dente Pré-Molar , Southern Blotting , Testes Respiratórios , Primers do DNA/normas , DNA Bacteriano/análise , Feminino , Helicobacter pylori/genética , Humanos , Incisivo , Masculino , Dente Molar , Reação em Cadeia da Polimerase , Sensibilidade e Especificidade , Estômago/microbiologia
11.
Eur J Oral Sci ; 107(5): 360-7, 1999 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-10515201

RESUMO

Recent studies have indicated that cementum formation can be induced when dental follicular cells are exposed to enamel matrix. The purpose of the present investigation was to study this cementum formation and the appearance of the cells involved, including their expression of collagen types alpha1(I), alpha1(II) and alpha1(III) mRNAs, during this process by means of light microscopy and in situ hybridisation. The mandibular first molars of 5-d-old rats were surgically taken out, their enamel epithelium was removed, and then the crowns were re-inserted with the occlusal surface downwards in their crypts to allow the follicular cells to come in contact with the denuded enamel matrix. After observation periods of 2-14 d, the teeth were prepared for light microscopic examination and in situ hybridisation. A monolayer of follicular cells in contact with the exposed enamel matrix changed their morphology and increased their expression of collagen type I mRNA as early as 2-4 d after exposure to the enamel matrix. A cementum-like tissue was formed at the surface of the enamel matrix. Collagen type II mRNA was never expressed in the tissues studied, whereas collagen type III mRNA was weakly expressed in the follicular cells throughout the experiment.


Assuntos
Saco Dentário/fisiologia , Órgão do Esmalte/fisiologia , Amelogênese/fisiologia , Animais , Comunicação Celular , Colágeno/biossíntese , Colágeno/genética , Cemento Dentário/citologia , Cemento Dentário/fisiologia , Saco Dentário/citologia , Dentinogênese/fisiologia , Órgão do Esmalte/citologia , Epitélio/fisiologia , Regulação da Expressão Gênica , Hibridização In Situ , Dente Molar , Odontogênese/fisiologia , RNA Mensageiro/genética , Ratos , Ratos Sprague-Dawley , Reimplante , Coroa do Dente/fisiologia , Coroa do Dente/transplante , Germe de Dente/citologia , Germe de Dente/fisiologia
12.
J Inherit Metab Dis ; 17(1): 60-6, 1994.
Artigo em Inglês | MEDLINE | ID: mdl-7914249

RESUMO

We report a 7-year-old patient with chondrodysplasia punctata but without rhizomelia. He was born with typical clinical and radiological symptoms of this disease. He developed slowly with considerable psychomotor retardation but improved later, gaining some speech and psychosocial contacts. Joint contractures and bilateral cataracts are still major problems. De novo plasmalogen synthesis in fibroblasts was greatly reduced and DHAP-AT activity was at the lower limit of controls. Peroxisomal thiolase was present in its precursor form only. Membrane fluidity (measured by TMA-DPH fluorescence anisotropy) was increased in erythrocyte ghosts and in lymphocytes. Plasma phytanic acid concentration was elevated 5-fold. The patient represents a mild clinical course of chondrodysplasia punctata, resembling Conradi-Hünermann syndrome, but biochemically he has the typical peroxisomal dysfunction of rhizomelic chondrodysplasia punctata except for a high residual activity of DHAP-AT.


Assuntos
Condrodisplasia Punctata/metabolismo , Acetil-CoA C-Acetiltransferase/metabolismo , Aciltransferases/metabolismo , Criança , Condrodisplasia Punctata/diagnóstico por imagem , Difenilexatrieno/análogos & derivados , Membrana Eritrocítica/fisiologia , Fibroblastos/metabolismo , Polarização de Fluorescência , Corantes Fluorescentes , Humanos , Linfócitos/fisiologia , Masculino , Fluidez de Membrana/fisiologia , Plasmalogênios/biossíntese , Radiografia , Pele/metabolismo
16.
Soz Praventivmed ; 25(4): 162-5, 1980 Sep.
Artigo em Francês | MEDLINE | ID: mdl-7456723

RESUMO

The "Sion" study, a part of the Swiss National Research Program on Cardiovascular diseases, investigated the relationships between parents' and children's cholesterolemia, blood pressure and relative weight. After a health control at school 101 fathers and 108 mothers of ten year old children have been examined. The representativeness of these parents was studied using twice as many adults of the same age from Nyon and from Aarau. Direct significant statistical associations are then demonstrated between fathers' and children's blood pressure, cholesterolemia and relative weight. Analogous associations were found out for the last two variables only between mothers and children. Available data suggest that environmental determinants of risk factor exposure are more likely to explain these relationships. It then appears that the family represents a proper setting for primary prevention.


Assuntos
Arteriosclerose/genética , Colesterol/sangue , Adulto , Pressão Sanguínea , Peso Corporal , Criança , Feminino , Humanos , Masculino , Programas de Rastreamento , Risco , Suíça
20.
Helv Paediatr Acta ; 34(2): 177-83, 1979 May.
Artigo em Inglês | MEDLINE | ID: mdl-156708

RESUMO

A boy of 3 2/12 years of age with Richner-Hanhart syndrome (plantar and palmar keratosis and chronic keratitis) was found to have hypertyrosinemia and to excrete the hydroxyacids derived from tyrosine. A diet poor in phenylalanine and tyrosine cured the skin and corneal lesions. Clinical and biochemical observations are reported.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/complicações , Ceratite , Tirosina/sangue , Erros Inatos do Metabolismo dos Aminoácidos/dietoterapia , Aminoácidos/sangue , Pré-Escolar , Humanos , Hidroxiácidos/urina , Lactente , Deficiência Intelectual/sangue , Ceratite/sangue , Ceratite/dietoterapia , Ceratodermia Palmar e Plantar/dietoterapia , Ceratodermia Palmar e Plantar/etiologia , Masculino , Síndrome
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