1,721,003 research outputs found
Familial cerebral, hepatic and retinal cavernous angiomas.
No full textI.F.: 1.029
CLINICAL NEUROLOGY, PEDIATRICS, SURGER
Family with branchial arch anomalies, hearing loss, ear and commissural lip pits, and rib anomalies. A new autosomal recessive condition: branchio-oto-costal syndrome?
No full textWe report on a family in which 3 sibs were affected with conductive deafness, bilateral preauricular and commissural lip pits, monolateral branchial fistula, and rib anomalies. On the basis of parental consanguinity, lack of clinical variability and affected subjects of both sexes, this condition seems to be inherited as an autosomal recessive trait. We suggest that these findings comprise a new autosomal recessive entity of branchial, auricular and costal anomalies, for which we suggest the acronym BOC (branchio-oto-costal) syndrome
Civic capital and service outsourcing: Evidence from Italy
No full textThis paper studies whether civic capital is an effective restraint against opportunistic behaviour in business-to-business transactions by looking at the firm-level degree of service outsourcing in Italy. Our results show that firms tend to outsource more services in areas where civic capital is higher. We claim that the rise in the propensity to engage in transactions with outside service suppliers stems from the decrease in opportunism between the parties involved
The same old medicine but cheaper: The impact of patent expiry on physicians’ prescribing behaviour
No full textWe study the evolution of statin consumption between 2005-2017 in the Italian region Emilia-Romagna. We run an interrupted time series analysis on monthly data for the three market-leading statins, focusing on economic shocks due to generic entries of simvastatin (April 2007) and atorvastatin (March 2012). We find significant variations in long-term trends and abrupt jumps in volumes and number of patients, involving the molecule losing patent protection and its competitors within the same family. Through counterfactual analysis, we provide comprehensive estimates of the cost savings associated with generication and show that the effect due to spillovers across molecules can be relatively large. Finally, we find evidence of heterogeneous effects across age groups and between naïve patients and the rest of the population. On the whole, prescribers’ behaviour comes out as sensitive to price changes even in an NHS context where patients and physicians are mostly shielded from the financial consequences of choosing a specific molecule. Our evidence is consistent with the view that, when generication increases the price gap across alternative compounds, physicians adjust prescriptions to changes in the cost-effectiveness ratio and align their choice with policymakers’ objectives more closely
Vertebral and spinal cavernous angiomas associated with familial cerebral cavernous malformation.
No full textBackground: Cerebral cavernous malformations are vascular malformations that affect the CNS and have been associated with cutaneous, retinal, and hepatic lesions. Until now, vertebral hemangiomas associated with CCM have been described only in one case. The coexistence of intracranial and spinal cavernous angiomas in familial CCM is extremely rare. In addition to previous studies, the Occurrence of spinal, vertebral, and cutaneous cavernous angiomas is now described in different members of a large family with CCM.
Case Description: Our study reports a previously described family (IFCAS-07) with 12 members affected by autosomal dominant cavernous angiomas: 11 had CCM either alone or associated with hepatic or retinal angiomas, and one had only hepatic angioma. In all 11 members affected by CCM, the mutation of CCM1 gene was detected. During the follow-up, 8 subjects underwent a spinal MRI: 2 because they were symptomatic (thoracic paresthesias, enuresis, back pain) and 6 as a screening examination. Spinal MRI showed in 5 subjects spinal cavernous angiomas either alone or associated with vertebral hemangiomas.
Conclusions: To our knowledge, this is the largest family reported with different Subjects affected by CCM associated with multiple cavernous angiomas throughout (brain and spinal cord) and besides (retina, skin, liver, and vertebral column) the CNS, Comprehensive care of patients with familial CUM includes screening of all the tissues that can be affected and appropriate management by specialists. We emphasize the importance of spinal MRI in the diagnosis of spinal and vertebral cavernous angiomas in all patients affected by familial CCM. (C) 2009 Elsevier Inc. All rights reserved
Vertebral and spinal cavernous angiomas associated with familial cerebral cavernous malformation.
No full textCardiovascular anomaly in Rieger Syndrome: heterogeneity or contiguity?
No full textPURPOSE:
Rieger Syndrome (RS) is an autosomal dominant disease, in which Axenfeld's and Rieger's anomalies are associated with typical facial dysmorphism and other extra-ocular findings. Cardiovascular defects are considered an occasional finding in this syndrome.
METHODS:
We describe a RS case in which the typical ocular and dysmorphic features were associated with bicuspid aortic valve. A review of the literature is provided.
RESULTS:
A total of 15 other cases of Axenfeld's or Rieger's anomaly associated with cardiovascular defects have been reported. In the cases in which the diagnosis of RS could be clinically performed, the cardiac defect mostly involved the outflow tract structures.
CONCLUSION:
The hypothesis that this association could be non-coincidental is discussed. The proved genetic heterogeneity of RS, based on clinical and molecular evidence, may suggest that RS is a contiguous gene syndrome or RS with cardiac defect is a separate entity. Finally we suggest a careful cardiological evaluation in RS patients, to assess the real frequency of cardiac defects in this syndrome
Clinical anophthalmia: an epidemiological study in Northeast Italy based on 368,256 consecutive births
No full textWe describe an epidemiological and clinical study of Clinical Anophthalmia in a population of consecutive live and stillborns enrolled in a hospital based registry of congenital malformations in Northeast Italy during the period from 1981 to 1989; 22 cases were detected among 368,256 births yielding a birth prevalence of 0.60 per 10,000 (95% CI 0.34-0.84); 20 cases were associated with at least one other major malformation. Malformation syndrome, association, or sequence was diagnosed in 13, while a non-recognizable multiple defect pattern was observed in 7/20 (35%). A chromosomal anomaly was present in eight syndromic cases. No significant trend over time, nor space or time clusters, were detected. As most CAn cases are associated with other anomalies recognizable by ultrasound, a decreasing trend in its prevalence at birth is expected in the future
Clinical application of genetic polymorphism in neurofibromatosis type 1
No full textThe authors report the study of DNA polymorphic sequences, 5 intragenic and 5 flanking the NF1 gene, in 87 Italian NF1 families for a total of 142 affected individuals and 204 non-affected relatives. All PCR-based analyses are easy and simple to perform, and require small amounts of DNA. The non radioactive method used is sensitive, rapid, and has low background. All subjects were informative for at least 2 markers. The use of linkage study to familial cases allowed us to exclude the diagnosis prenatally in two fetuses, and to confirm or exclude diagnosis in those relatives with clinical signs, but not fulfilling the international diagnostic criteria. Furthermore indirect analysis permitted the detection of large gene deletions by loss of heterozygosity of one or more DNA markers in three out of 47 sporadic cases
Is visual field reduction a component manifestation of Osteopathia Striata with Cranial Sclerosis?
No full textA girl with fully expressed osteopathia striata with cranial sclerosis (OS) was also found to have a contraction of the two visual fields, a sign never previously described in OS syndrome. We suggest that the visual field defect is a component manifestation of OS syndrome, whose pathogenesis is represented by distortion of the optic canal and narrowing of the optic foramina
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