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1.
2.
Primary cutaneous anaplastic large cell lymphomas with 6p25.3 rearrangement exhibit particular histological features
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3.
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
4.
Maria Gonzalez-Cao Cristina Carrera Juan Francisco Rodriguez Moreno Pedro Rodríguez-Jiménez Mónica Antoñanzas Basa Rosa Feltes Ochoa Teresa Puertolas Eva Muñoz-Couselo José Luis Manzano Ivan Marquez-Rodas Juan Martín-Liberal Ainara Soria Pilar Lopez Criado Almudena Garcia-Castaño Aram Boada Pablo Ayala de Miguel Susana Puig Guillermo Crespo Alfonso Berrocal 《Journal of the American Academy of Dermatology》2021,84(5):1412-1415
5.
Thaís dos Santos Fontes Pereira Carolina Cavalieri Gomes Peter A Brennan Felipe Paiva Fonseca Ricardo Santiago Gomez 《Journal of oral pathology & medicine》2019,48(1):3-9
Fibrous dysplasia is a non‐neoplastic developmental process that affects the craniofacial bones, characterized by painless enlargement as a result of bone substitution by abnormal fibrous tissue. Postzygotic somatic activating mutations in the GNAS1 gene cause fibrous dysplasia and have been extensively investigated, as well as being helpful in the differential diagnosis of the disease. Fibrous dysplasia may involve one (monostotic) or multiple bones (polyostotic), sporadically or in association with McCune‐Albright syndrome, Jeffe‐Lichenstein syndrome, or Mazabreud syndrome. This review summarizes the current knowledge on fibrous dysplasia, emphasizing the value of integrating the understanding of its molecular pathogenesis with the clinical, radiological, and histopathological features. In addition, we address important aspects related to the differential diagnosis and patient management. 相似文献
6.
Jorge Cano Julián Campo Luis A Moreno Antonio Bascones 《Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics》2006,101(1):11-28
OBJECTIVE: Alveolar distraction is a relatively novel procedure by which alveolar bone and underlying mucosa are regenerated. The low predictability of other vertical or horizontal bone regeneration methods has increased interest in this promising technique. This article was designed to review published clinical and experimental results on alveolar distraction, including basic research in other disciplines (maxillofacial and orthopedic distraction) related to or with influence on alveolar distraction. STUDY DESIGN: A review of the international literature was performed to summarize results of clinical and experimental studies on alveolar distraction and on distraction at other anatomical sites that contribute important findings on tissue biology, molecular mechanisms, and other factors that influence and participate in the alveolar distraction process. RESULTS: Research into alveolar distraction has addressed the latency phase, distraction phase, and consolidation phase, yielding highly variable results. Little experimental research has been carried out on this procedure, and most publications are clinical studies with a short follow-up period. Published studies have reported a high rate of complications, attributable to our current lack of understanding of the process. CONCLUSIONS: Definitive conclusions on alveolar distraction are hampered by the lack of clinical and experimental studies to date. Greater knowledge of the factors that influence the distraction process will lead to a more predictable and efficacious distraction technique and a better distractor design. 相似文献
7.
Antonio S. Salinas Sánchez Jesús Cifuentes Tebar Miguel Segura Martín José M. Giménez Bachs María J. Donate Moreno Héctor Pastor Navarro Julio A. Virseda Rodríguez 《American journal of transplantation》2005,5(8):2074-2077
Ureteral herniation is a rare entity. We report the first case of extraperitoneal ureteral herniation in a pediatric en bloc renal graft causing obstructive uropathy. A 70-year-old, obese patient with an en bloc renal transplant was found to have ureterohydronephrosis in the right renal graft on magnetic resonance imaging. Nephrostomy with insertion of a double-J catheter confirmed the presence of a ureteral loop within the inguinal tract. Surgery confirmed herniation of the ureter through the internal inguinal ring, crossing over the spermatic cord. We performed release, resection, ureteral reimplantation and hernioplasty. Four months later, renal function was normal and urinary tract dilation had diminished. This case illustrates an unusual cause of obstructive uropathy in a transplanted kidney. Apart from obesity, two other factors may have contributed to its development: presence of a redundant ureter, and the fact that the ureter had been placed over, rather than under, the spermatic cord. 相似文献
8.
Quantitative diagnostic performance of myocardial perfusion SPECT with attenuation correction in women. 总被引:1,自引:0,他引:1
Arik Wolak Piotr J Slomka Mathews B Fish Santiago Lorenzo Daniel S Berman Guido Germano 《Journal of nuclear medicine》2008,49(6):915-922
Attenuation correction (AC) for myocardial perfusion SPECT (MPS) had not been evaluated separately in women despite specific considerations in this group because of breast photon attenuation. We aimed to evaluate the performance of AC in women by using automated quantitative analysis of MPS to avoid any bias. METHODS: Consecutive female patients--134 with a low likelihood (LLk) of coronary artery disease (CAD) and 114 with coronary angiography performed within less than 3 mo of MPS--who were referred for rest-stress electrocardiography-gated 99mTc-sestamibi MPS with AC were considered. Imaging data were evaluated for contour quality control. An additional 50 LLk studies in women were used to create equivalent normal limits for studies with AC and with no correction (NC). An experienced technologist unaware of the angiography and other results performed the contour quality control. All other processing was performed in a fully automated manner. Quantitative analysis was performed with the Cedars-Sinai myocardial perfusion analysis package. All automated segmental analyses were performed with the 17-segment, 5-point American Heart Association model. Summed stress scores (SSS) of > or =3 were considered abnormal. RESULTS: CAD (> or =70% stenosis) was present in 69 of 114 patients (60%). The normalcy rates were 93% for both NC and AC studies. The SSS for patients with CAD and without CAD for NC versus AC were 10.0 +/- 9.0 (mean +/- SD) versus 10.2 +/- 8.5 and 1.6 +/- 2.3 versus 1.8 +/- 2.5, respectively; P was not significant (NS) for all comparisons of NC versus AC. The SSS for LLk patients for NC versus AC were 0.51 +/- 1.0 versus 0.6 +/- 1.1, respectively; P was NS. The specificity for both NC and AC was 73%. The sensitivities for NC and AC were 80% and 81%, respectively, and the accuracies for NC and AC were 77% and 78%, respectively; P was NS for both comparisons. CONCLUSION: There are no significant diagnostic differences between automated quantitative MPS analyses performed in studies processed with and without AC in women. 相似文献
9.
The effect of zinc supplementation on the metabolism of tryptophan conversion to niacin was studied in 14 alcoholic patients with pellagra and in 7 male control subjects aged 21-45 y. The pellagrins received chemically defined diets based on crystalline amino acids through an enteral tube for 7 d. Patients were divided into two groups (A and B), both receiving a diet from which tryptophan, Zn, and niacin were excluded. Patients in group B, however, received 220 mg Zn sulfate orally. Upon admission the pellagra patients had low plasma Zn levels and low urinary excretion values of N'methylnicotinamide (N'MN) and N'methyl-2-pyridone-5-carboxamide (2-PYR) in relation to the control subjects (p less than 0.01). During the experimental period there was an increase in plasma Zn levels (p less than 0.005) and in urinary N'MN (p less than 0.05) and 2-PYR (p less than 0.05) excretion in the patients receiving Zn supplementation (group B). These results suggest that Zn interacts with niacin metabolism in alcoholic patients with pellagra through a probable mediation by vitamin B-6. 相似文献
10.
Esparza-Gordillo Jorge; Goicoechea de Jorge Elena; Buil Alfonso; Berges Luis Carreras; Lopez-Trascasa Margarita; Sanchez-Corral Pilar; Rodriguez de Cordoba Santiago 《Human molecular genetics》2005,14(8):1107
Some MCP SNP and aHUS-associated MCP mutation 相似文献