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1.
Francisca Morgado Mariana Batista Ana Moreno Inês Coutinho 《Pediatric dermatology》2021,38(1):191-193
We present a 6‐year‐old girl with skin hyperpigmentation, leukoplakia, and onychodystrophy, the classic mucocutaneous triad usually associated with dyskeratosis congenita. The patient also had premature graying of the hair, bone marrow failure, hepatitis, exudative retinopathy, osteopenia with multiple long bone fractures, and intracranial calcifications and brain cysts. Coats plus syndrome is a rare disease with a clinical and genetic overlap with dyskeratosis congenita. This disease is reviewed, with a focus on the pathogenesis of the genetic anomalies and its background as a telomere biology disorder. 相似文献
2.
3.
Marcelo Sato‐Sano Solange Pistori Teixeira Juliano Cordova Vargas Otvio Cesar Carvalho Guimares Baiocchi Milvia Maria Simes e Silva Enokihara Elimar Elias Gomes Mariana Dias Batista 《The Journal of dermatology》2019,46(7):618-621
Eosinophilic dermatosis of hematological malignancy is a paraneoplastic skin eruption associated with chronic lymphocytic leukemia and other B‐cell malignancies. It clinically resembles an insect bite reaction and it can precede the symptoms of the hematological malignancy or be related to a more aggressive course. Different treatments have been proposed, but partial response and recurrence are frequent. Herein, we describe a case of eosinophilic dermatosis associated with mantle cell lymphoma with remission after lenalidomide therapy. 相似文献
4.
B. Davido R. Batista H. Fessi H. Michelon L. Escaut C. Lawrence M. Denis C. Perronne J. Salomon A. Dinh 《Médecine et maladies infectieuses》2019,49(3):214-218
Objective
A rapid and worrying emergence of vancomycin-resistant enterococci (VRE) gut colonization is occurring worldwide and may be responsible for outbreaks, especially in healthcare facilities. While no efficient decolonization strategies are recommended, we assessed fecal microbiota transplantation (FMT) to eradicate VRE colonization.Patients and method
Our main objective was to measure the impact of FMT on decolonization of VRE carriers, confirmed by at least two consecutive negative rectal swabs at one-week interval during a 3-month follow-up period. Patients received no antibiotic prior to the FMT.Results
After a month only three patients remained colonized with VRE. Decolonization was associated with 87.5% (n = 7) of success after three months as only one patient remained colonized.Conclusion
Our first results confirm that the FMT seems to be safe, with an impact on VRE colonization over time that may help control outbreaks. 相似文献5.
Adriane Batista Pires Maia Simone Gonçalves Assis Fernanda Mendes Lages Ribeiro Liana Wernersbach Pinto 《Revista brasileira de otorrinolaringologia (English ed.)》2021,87(2):145-151
IntroductionThis article deals with the occurrence of health problems due to gunshot wounds to the face among military police officers, in the metropolitan region of Rio de Janeiro, who were submitted to surgery at the Oral and Maxillofacial Surgery and Traumatology Clinic of Hospital Central da Polícia Militar.ObjectiveTo identify the profile of patients submitted to surgery as a result of gunshot wounds, the anatomical distribution of maxillofacial fractures, the identified sequelae and complications, the health specialties involved in the rehabilitation of these patients, and to discuss the social, emotional and work performance-related effects of work among these subjects.MethodsA retrospective epidemiological study was carried out based on secondary data from military police officers who were submitted to surgery at Hospital Central da Polícia Militar due to gunshot wounds from June 2003 to December 2017.ResultsDuring the study period, 778 surgeries were performed in the operating room by the Oral and Maxillofacial Surgery and Traumatology service at Hospital Central da Polícia Militar, 186 of which were due to gunshot wounds (23.9%). All patients were males and the mean age 34.7 years. Bone segment loss was the most common sequela. Facial esthetic impairment and reports of insomnia were the most often identified late consequences of impact on health and social life. Regarding the occupational impacts of the sustained injury, the mean time away from work due to medical leave for the treatment of maxillofacial injuries was 11.7 months.ConclusionThe treatment of gunshot wounds patients with facial injuries requires multiple surgical interventions and their rehabilitation requires the involvement of different health specialties. Further studies are needed to qualitatively analyze the impact of this type of facial trauma on the patients' lives and their social consequences. 相似文献
6.
G Gaitanis K Nomikos E Vava EC Alexopoulos ID Bassukas 《Journal of the European Academy of Dermatology and Venereology》2009,23(12):1427-1431
Background/aim Theoretical considerations support the combination of cryosurgery and topical imiquimod to treat basal cell carcinomas (BCC). The aim of the present study was to test the feasibility and efficacy of 'cryosurgery during continued imiquimod application' ('immunocryosurgery') to treat 'high-risk-for-recurrence' BCCs.
Methods Thirteen patients with 21 biopsy-proven tumours (4 of 21 relapses after prior surgery) were included. After 2–5 weeks (median, 3) of daily 5% imiquimod cream application, the tumours were treated by liquid N2 cryosurgery (spray, two cycles, 10–20 s) and imiquimod was continued for additional 2–12 weeks (median, 4). The outcome after at least 18 months of follow-up (18–24 months) is currently reported.
Results Nineteen of 21 tumours responded promptly to immunocryosurgery; two tumours required additional treatment cycles to clear. Thus, the clinical clearance rate was 100%. Only 1 of 21(5%) tumour relapsed after at least 18 months of follow-up (cumulative efficacy: 95%).
Conclusions 'Immunocryosurgery' is a promising non-surgical combination modality to treat 'high-risk-for-recurrence BCCs'. Initial evidence is suggestive of an at least additive effect of the two combined modalities. Further studies comparing immunocryosurgery directly with cryosurgery and imiquimod monotherapies will confirm the reported results. 相似文献
Methods Thirteen patients with 21 biopsy-proven tumours (4 of 21 relapses after prior surgery) were included. After 2–5 weeks (median, 3) of daily 5% imiquimod cream application, the tumours were treated by liquid N
Results Nineteen of 21 tumours responded promptly to immunocryosurgery; two tumours required additional treatment cycles to clear. Thus, the clinical clearance rate was 100%. Only 1 of 21(5%) tumour relapsed after at least 18 months of follow-up (cumulative efficacy: 95%).
Conclusions 'Immunocryosurgery' is a promising non-surgical combination modality to treat 'high-risk-for-recurrence BCCs'. Initial evidence is suggestive of an at least additive effect of the two combined modalities. Further studies comparing immunocryosurgery directly with cryosurgery and imiquimod monotherapies will confirm the reported results. 相似文献
7.
Mulkerrin EC; Clark BA; Epstein FH 《QJM : monthly journal of the Association of Physicians》1997,90(6):411-415
We studied blood pressure and natriuretic responses to acute salt loading,
and the effect of non-steroidal anti-inflammatory agents on these
responses, in five healthy normotensive women aged 65 to 71 years. Five
women aged 25 to 31 years acted as controls. Intravenous saline loading,
with and without prior ingestion of ibuprofen, was 15 ml/kg/h for 3 h.
Baseline blood pressures were higher in the elderly. Saline infusion
without ibuprofen raised systolic blood pressure (SBP) by about 25 mmHg in
the older group only. Ibuprofen increased baseline SBP in the elderly (129
+/- 6 vs. 116 +/- 5 mmHg, p < 0.05). Saline loading after ibuprofen
again raised blood pressure by about 25 mmHg in the elderly only. The
elderly group showed markedly increased sodium excretion during saline
loading, but this was reduced by ibuprofen. Ibuprofen had no effect on SBP
or sodium excretion in controls. Ageing appears to increase susceptibility
to salt retention and hypertension from non-steroidal anti-inflammatory
agents.
相似文献
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9.
Uroscopy in the 21st century: high-field NMR spectroscopy 总被引:1,自引:1,他引:0
Neild GH; Foxall PJ; Lindon JC; Holmes EC; Nicholson JK 《Nephrology, dialysis, transplantation》1997,12(3):404-417
From the experiments described, it can be seen that there are different
research approaches that can be taken and these are summarized in Table 1.
Whereas much scientific research is principally hypothesis led, there
remains, nevertheless, an important place for exploratory research. High
resolution NMR can measure, directly and simultaneously, a wide range of
endogenous metabolites in biological fluids and has the unique capability
of providing structural information on the metabolites detected. It has
proved to be a powerful research tool with which to study inherited
metabolic diseases, renal disease, drug metabolism, and toxicity, and can
be used to monitor the effects of drug therapy. For instance, by using a
library of experimental toxins one can map the metabolic profile of
site-specific nephron injury. With this approach in man one could
eventually take an unknown disease such as Balkan nephropathy and predict
the initial site of tubular injury, the mode of injury and therefore the
kind of toxin capable of producing that injury. NMR spectroscopic
techniques are still advancing rapidly, with ever increasing sensitivity
and sophistication of NMR pulse sequences to enhance structural elucidation
in complex mixtures. Given the advances in directly coupled HPLC-NMR and
even HPLC-NMR-mass spectroscopy it is likely that these technologies in
conjunction with pattern recognition will make major contribution to our
understanding of renal processes and provide new diagnostic insights in the
21st century.
相似文献
10.
Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions 总被引:8,自引:13,他引:8
Holmberg M; Duyckaerts C; Durr A; Cancel G; Gourfinkel-An I; Damier P; Faucheux B; Trottier Y; Hirsch EC; Agid Y; Brice A 《Human molecular genetics》1998,7(5):913-918
Autosomal dominant cerebellar ataxia with progressive macular degeneration
is caused by a CAG/glutamine repeat expansion in the SCA7 gene/protein.
Neuronal intranuclear inclusions were detected in the brain of an early
onset SCA7 case with the 1C2 antibody directed against an expanded
polyglutamine domain. Nuclear inclusions were most frequent in the inferior
olivary complex, a site of severe neuronal loss in SCA7. They were also
observed in other brain regions, including the cerebral cortex, not
considered to be affected in the disease. Using confocal microscopy we
showed that some inclusions were ubiquitinated, but to varying degrees,
ranging from <1% in the cerebral cortex to 60% in the inferior olive. In
addition, we also observed cytoplasmic staining using the 1C2 antibody,
particularly in the supramarginal gyrus, the hippocampus, the thalamus, the
lateral geniculate body and the pontine nuclei. These data confirm that the
presence of intranuclear inclusions in neurons is a common characteristic
of disorders caused by CAG/polyglutamine expansions, but unlike what has
been reported for Huntington's disease, SCA1 and SCA3/MJD, in SCA7 the
inclusions were not restricted to the sites of severe neuronal loss.
相似文献