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121.
MO Livet A Moncla B Delobel MF Croquette N Philip L Vallée 《Archives de pédiatrie》1997,4(12):1231-1237
Smith-Magenis syndrome is caused by a 17p11.2 deletion. It associates mental retardation, facial dysmorphism and brachydactyly; aberrant behavior and major sleep problems are present in 70% of the cases. It is probably under-diagnosed because the facial abnormalities are mild and the behavioral problems with hyperactivity and self-injuries are dominant, leading to the diagnosis of psychiatric pathology. However these behavioral problems are sufficiently characterized to allow the diagnosis of the syndrome and look for a 17p11.2 microdeletion. Otorhinolaryngologic, ophtalmologic, cardiac and renal abnormalities can be associated and their evaluation is necessary. Smith-Magenis syndrome is considered as a contiguous gene syndrome. Genes have been mapped and isolated to the critical region, but their participation in the pathogenesis of the syndrome remains unclear. 相似文献
122.
Cancer Patterns in the Middle East Special Report from the Middle East Cancer Society 总被引:2,自引:0,他引:2
Ernesto Kahan Amal Sami Ibrahim Khamis El Najjar Elaine Ron Hedar Al-Agha Aaron Polliack M. Nabil El-Bolkainy 《Acta oncologica (Stockholm, Sweden)》1997,36(6):631-636
To update its cancer statistics, the newly established Middle East Cancer Society examined the cancer frequency patterns in Egypt and the Gaza Strip. The results revealed differing overall patterns. For men the highest frequencies were found for lymphoma, bladder cancer and cancers of the oral cavity and pharynx in Egypt, and for lung cancer, leukaemia and lymphoma in Gaza. For women, breast cancer had the highest frequency in both areas, followed by cancers of the oral cavity and pharynx in Egypt, and leukaemia and lymphoma in Gaza. The distribution of cancer occurrence by organ system also varied. In the light of the different ethnicities, lifestyles, socioeconomic levels and carcinogenic exposure among the countries of the Middle East, this kind of comparison can provide the background for more sophisticated approaches for discerning risk factors in cancer. We believe that further cooperation among participating countries will overcome the present limitations in data collection, registration and access. 相似文献
123.
Bolontrade MF; Stern MC; Binder RL; Zenklusen JC; Gimenez-Conti IB; Conti CJ 《Carcinogenesis》1998,19(12):2107-2113
In this study we have analyzed the vascular response induced in the two-
stage carcinogenesis model in SENCAR mice. The role of angiogenesis has not
been explored in this model, which is the paradigm of multistage
carcinogenesis and a model for neoplastic lesions derived from exophytic
premalignant lesions (e.g. colon carcinoma, bladder papilloma). We
investigated if angiogenesis is involved in the formation of papillomas and
in the progression from papilloma to carcinoma. To this end we analyzed the
vasculature of normal and hyperplastic skin, focal epidermal hyperplasias
that are precursors of papillomas, papillomas at different stages and
squamous cell carcinomas. We also analyzed the vascularization of
papillomas induced in two strains of mice that differ in their
susceptibility to malignant progression. We show here that angiogenesis is
turned on in the earliest stages of papilloma formation. In late stages,
regardless of state of progression, the predominant response is an increase
in the size of blood vessels. Thus, in the SENCAR mouse model,
representative of exophytic tumors, the angiogenesis switch is a very early
event, probably mechanistically related to the development of the primarily
exophytic lesions. Therefore, the density of blood vessels cannot be used
as a predictor of malignant progression in this model.
相似文献
124.
Anhidrotic ectodermal dysplasia with spontaneous corneal perforation and keratoconus. 总被引:1,自引:0,他引:1
A patient with anhidrotic ectodermal dysplasia and severe dry eyes was admitted with spontaneous corneal perforation in his right eye. The corneal perforation was sealed with cyanoacrylate glue and bandage contact lens placement. Three weeks later, the patient underwent penetrating keratoplasty. On follow-up examination, he had corneal graft abscess that was treated successfully with topical antibiotics and corneal erosion that was treated with a bandage contact lens. Corneal topography performed as a routine examination showed inferior corneal steepening typical of keratoconus in the left eye. This accidental discovery of keratoconus in the patient's left eye may suggest a possible association between anhidrotic ectodermal dysplasia and keratoconus. 相似文献
125.
126.
ANA JP MORAES POLLYANA MF SOARES AURA L ZAPATA ANA PN LOTITO ADRIANA ME SALLUM CLOVIS AA SILVA 《Pediatrics international》2006,48(1):48-53
Background: The purpose of the present paper was to describe the clinical manifestations and treatment of patients with panniculitis. Methods: From January 1983 to December 2002, 4294 patients were treated for pediatric rheumatological diseases at Pediatric Rheumatology Unit, University of São Paulo, Brazil. Of these, 35 children and adolescents (0.8%) presented with panniculitis: erythema nodosum (EN) or Weber–Christian disease (WCD). Clinical characteristics, laboratory exams, biopsy of the lesion, treatment and clinical course were studied. Results: Of the 35 patients, 29 presented with EN and six with WCD, one of these with cytophagic histiocytic panniculitis. Mean age at symptom onset was 85 months (6–204 months) and the mean duration of follow up was 55 months (1–144 months). All the patients presented with inflammatory subcutaneous nodules. The patients with WCD presented with systemic manifestations and cutaneous atrophy. The principal etiologies of EN were streptococcal infection (42%), undetermined (13.5%), pulmonary tuberculosis (10%), and acute rheumatic fever (10%). Biopsy of the nodules indicated septal panniculitis in 14 patients with EN and lobular panniculitis without vasculitis in the patients with WCD, one of which had cytophagic histiocytic panniculitis. There was recurrence in 11 patients (38%) with EN and in all those with WCD. Non‐steroidal anti‐inflammatory drugs were used in 15 patients with EN and corticosteroids and/or immunosuppressive drugs in the six patients with WCD. Three patients died. Conclusions: EN is the most frequent panniculitis, with a benign course and is mainly associated with infections. WCD is a severe disease, with systemic involvement, that proceeds with cutaneous atrophy and requires the use of corticosteroids and or immunosuppressive drugs. 相似文献
127.
Christopher L Carroll Anita Bhandari Aaron R Zucker Craig M Schramm 《Pediatric critical care medicine》2006,7(6):527-531
OBJECTIVES: Childhood obesity contributes to a wide array of medical conditions, including asthma. There is also increasing evidence in adult patients admitted to the intensive care unit (ICU) that obesity contributes to increased morbidity and to a prolonged length of stay. We hypothesized that obesity is associated with the need for increased duration of therapy in children admitted to the ICU with status asthmaticus. DESIGN: Retrospective cohort study. SETTING: A tertiary pediatric ICU in a university-affiliated children's hospital. PATIENTS: We retrospectively examined data from all children older than 2 yrs admitted to the ICU with status asthmaticus between April 1997 and June 2004. Children were classified as normal weight (<95% weight-for-age percentile) or obese (>95% weight-for-age). INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Of the 209 children admitted to the ICU with asthma, 45 (22%) were obese. Compared with children of normal weight, the obese children were older (9.7 +/- 4.4 vs. 8.0 +/- 4.3 yrs, p = .02), more likely to be female (60% vs. 37%, p < .01), and more likely to have been admitted to the ICU previously (40% vs. 20%, p = .01). The obese children also had a statistically significant difference in race (more likely to be Hispanic) and in baseline asthma classification (more likely to have persistent asthma). Despite similar severity of illness at ICU admission, obese children had a significantly longer ICU length of stay (116 +/- 125 hrs vs. 69 +/- 57 hrs, p = .02) and hospital length of stay (9.8 +/- 7.0 vs. 6.5 +/- 3.4 days, p < .01). Obese children also received longer courses of supplemental oxygen, continuous albuterol, and intravenous steroids. CONCLUSIONS: Childhood obesity significantly affects the health of children with asthma. Obese children with status asthmaticus recovered more slowly from an acute exacerbation, even after adjustment for baseline asthma severity and admission severity of illness. 相似文献
128.
Penny J Sinner James R Cerhan Aaron R Folsom Julie A Ross 《Cancer epidemiology, biomarkers & prevention》2005,14(10):2446-2448
The etiology of acute myeloid leukemia (AML) is relatively unknown. Incidence rates are highest in the agricultural Midwest region compared with other regions of the United States. Many studies have examined the relationship between farming and leukemia, but most have mainly focused on men. We examined the potential association between farm or rural residence and AML in the Iowa Women's Health Study. In 1986, 37,693 women who were free of prior cancer completed a lifestyle and health questionnaire, which included a question on the place of residence. Women were subsequently followed until 2002 for cancer incidence; 79 women developed AML during the time period. Women who lived on a farm at baseline were more likely (relative risk, 1.91; 95% confidence interval, 1.19-3.05) to develop AML compared with women who did not live on a farm. Further, women who reported living on a farm or in a rural area were twice as likely (relative risk, 2.38; 95% confidence interval, 1.33-4.26) to develop AML compared with women who lived in a city with a population of >10,000 people. These results provide evidence that women who live on farms or rural areas are at an increased risk of AML. 相似文献
129.
Prostaglandin E(2) (PGE(2)), a product of the cyclooxygenase-2 pathway, has been shown to increase cardiac output and modulate cardiac contractile function. However, whether the cardiac contractile response of PGE(2) is due to its action on single ventricular myocytes has not been elucidated. To assess the mechanical effect of PGE(2) at the cellular level, adult rat ventricular myocytes were isolated and stimulated to contract at 0.5Hz. Mechanical and intracellular Ca(2+) properties were evaluated using an IonOptix Myocam analog-to-digital optical detection system. Contractile and intracellular Ca(2+) properties were evaluated as peak shortening (PS), time-to-PS (TPS), time-to-90% relengthening (TR(90)), maximal velocity of shortening or relengthening (+/-dL/dt) and Ca(2+)-induced intracellular Ca(2+) fluorescence release (CICR), baseline intracellular Ca(2+) levels and intracellular Ca(2+) decay rate (tau). PGE(2) (10(-8) to 10(-3)M) elicited an augmentation in PS but had no effect on TPS, TR(90), +/-dL/dt, CICR and tau. High concentration of PGE(2) (10(-5)M or higher) reduced the baseline intracellular Ca(2+) levels. These data indicate that the myocardial contractile response of PGE(2) may be due to its direct cardiac contractile action at the single ventricular myocyte level, probably through a mechanism independent of intracellular Ca(2+) release. 相似文献
130.
Anupriya Arthur Anika Alexander Simerpreet Bal Ajith Sivadasan Sanjith Aaron 《Indian journal of ophthalmology》2014,62(4):472-476
Patients with carotid atherosclerosis can present with ophthalmic symptoms. These symptoms and signs can be due to retinal emboli, hypoperfusion of the retina and choroid, opening up of collateral channels, or chronic hypoperfusion of the globe (ocular ischemic syndrome). These pathological mechanisms can produce many interesting signs and a careful history can bring out important past symptoms pointing toward the carotid as the source of the patient''s presenting symptom. Such patients are at high risk for an ischemic stroke, especially in the subsequent few days following their first acute symptom. It is important for clinicians to be familiar with these ophthalmic symptoms and signs caused by carotid atherosclerosis for making an early diagnosis and to take appropriate measures to prevent a stroke. This review elaborates the clinical features, importance, and implications of various ophthalmic symptoms and signs resulting from atherosclerotic carotid artery disease. 相似文献