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1.
Birsen Uçar Ayten Yakut Nurdan Kural Ferit Büyükaşık Erkan Vardareli 《Pediatric nephrology (Berlin, Germany)》1997,11(1):31-35
.We report five patients with Laurence-Moon-Bardet-Biedl syndrome (LMBBS) who had renal involvement. Intravenous pyelography
showed bilateral or unilateral calyceal clubbing and blunting in all patients. In addition, one patient had a parapelvic cyst
in the left kidney and another had bilateral lobulated renal outlines of the fetal type. One patient had a urinary concentrating
defect and two patients showed increased fractional sodium excretion. Estimated tubular phosphate reabsorption values were
in normal limits in all of five patients. No patient had a urine acidification defect, proteinuria, glycosuria, or hyperaminoaciduria.
One patient died from end-stage renal failure. The remaining four patients had normal serum creatinine values and estimated
creatinine clearances. 99mTechnetium-diethylenetriamine pentaacetate renal scanning showed prolonged and delayed concentration and delayed excretion
in three of the four patients who survived. A focal scar was determined on the left kidney of one of four patients by 99mtechnetium-dimercaptosuccinic acid renal scanning. All LMBBS cases with or without renal symptoms should be routinely evaluated
for renal abnormalities. Renal scanning is a valuable method, especially for determining the renal involvement in the early
stage of disease.
Received November 14, 1995; received in revised form and accepted May 23, 1996 相似文献
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Daniela Concolino Simona Sestito Francesca Falvo Giusy Romano Miriam Ceravolo Elisa Anastasio Licia Pensabene Elisa A. Colombo Lidia Larizza 《European journal of medical genetics》2019,62(1):73-76
Clericuzio-type poikiloderma with neutropenia is a well-defined nosological entity, but despite a remarkable number of clinical reports, no long term follow-up data has been presented to date regarding patients with this rare condition.Here we describe the results of clinical follow-up of three siblings, one male (Patient 1) and two females (Patients 2 and 3), subsequent to their first clinical and then molecular diagnosis of Clericuzio-type poikiloderma with neutropenia syndrome due to mutation of USB1gene. Patient 1 always expressed the most severe phenotype, while patients 2 and 3 showed an intermediate and mild phenotype, respectively, as observed since their first clinical evaluation. None of the patients developed skin cancer and/or myelodysplastic disorders considering the peripheral haematological findings. Lens opacity, never reported before, was found in two of the three patients.The long term follow-up observations confirm the stability over time of the pronounced intra-familial heterogeneity of clinical manifestations observed prior to and upon molecular diagnosis. We conclude that prolonged follow-up is an adjunct tool to monitor intra-familial variability of PN clinical spectrum which may favour surveillance of more serious complications of the disease among siblings, when a patient-specific clinical expressivity is present. 相似文献
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T. Caraceni P. Giovannini 《European archives of psychiatry and clinical neuroscience》1977,224(4):331-340
Summary The clinical and neurological features of four siblings (2 , 2 ) affected by syringomyelia are described. A fifth sister was affected by an acoustic neurinoma. Since neither parent showed signs of syringomyelia, this is considered to be a datum substantiating the dysembryogenetic theory of the syringomyelia syndrome.We are grateful to Dr. M. Savoiardo for his many suggestions and for his interpretation of radiological features. We should like to thank Dr. L. De Lorenzi for allowing us to publish details about patients. 相似文献
4.
《Journal of psychosocial oncology》2013,31(1):87-91
Abstract DISEASE, PAIN AND SUICIDAL BEHAVIOR. Elsbeth Stenager and Egon Stenager. New York: The Haworth Medical Press, 1998, 121 pages, $9.00. Paperback. Reviewed by Nancy Deeds Meister. HEAR HOW I FEEL. A video produced by the Baton Broadcasting System and Mid Canada Television (24 minutes, 30 seconds), 1996. No charge at present. Reviewed by Linda McLellan. 相似文献
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《Research in developmental disabilities》2014,35(9):2085-2092
The aims of our study were: (1) to estimate the extent of differences in wellbeing between siblings of children with disabilities or long-term health conditions and siblings of ‘typically developing’ children in a nationally representative cohort of Australian children (the Longitudinal Study of Australian Children); (2) to determine whether any between-group differences in wellbeing may be potentially attributable to between-group differences in exposure to socio-economic disadvantage. The results of our analyses were consistent with the existing literature in indicating that, in unadjusted comparisons, the siblings of children with long-term health conditions or disabilities: (1) had lower wellbeing than their peers on some, but not all, indicators of wellbeing; and (2) that where differences did exist the effect sizes were small. Our results add to the existing literature in: (1) indicating that adjusting for between-group differences in exposure to low SEP and associated adversities eliminated the statistical significance of unadjusted comparisons in the majority of instances; and (2) failing to find any evidence of deterioration over time in the wellbeing of siblings with long-term health conditions or disabilities over a two-year period from age 4/5 to age 6/7. 相似文献
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ObjectivesStudies of empathy among medical students reported an alarming significant decline during medical education. Some authors identified the third year of education as the most problematic one: empathy decreased significantly when the curriculum was shifting to patient-care activities. Scientists have tried to address the means and methods for improving empathy skills (e.g., by improving communication abilities), but investigations on this topic are missing. Based on the Damasio’s hypothesis and scientific studies, we assume that Focusing (i.e., an embodied practice where one attends to a bodily felt sense and uses it to understand the self and situations) would be significantly and positively linked to empathy.MethodAfter their clinical internships, we selected third-year medical students (N = 121) and asked them to complete three questionnaires assessing empathy, Focusing, and social desirability.ResultsBy controlling social desirability, findings confirmed that Focusing (especially the “having access to the felt body” component) was significantly and positively linked with empathy (i.e., Fantasy & Perspective-Taking), and positively predicted Fantasy, Perspective-Taking, and Empathic Concern.ConclusionsThese preliminary results suggest that the felt body plays a role in increasing empathy (mainly on cognitive empathy). Few scientific studies have described constructs that significantly promote cognitive empathy and empathic concern (a deeply anchored trait of empathy), which suggests new avenues of investigation. 相似文献
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