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Familial Disease (familial + disease)
Selected AbstractsFamilial clustering of Crohn's disease in Israel: Prevalence and association with disease severityINFLAMMATORY BOWEL DISEASES, Issue 2 2009Shomron Ben-Horin MD Abstract Background: There is limited data addressing the severity of Crohn's disease (CD) in patients with a family history of inflammatory bowel disease (IBD) compared to sporadic cases. Methods: We investigated the familial occurrence of IBD and its correlation with disease behavior in CD patients attending the Israeli IBD Foundation meeting using a structured questionnaire. Results: The study group consisted of 181 CD patients with a total of 825 1st degree relatives. Positive family history for IBD in a 1st degree relative was reported in 30 patients (16%). Nine out of the 360 parents (2.5%) had IBD (4 CD, 5 UC). There were 17 siblings with IBD (15 CD, 2 UC) out of 351 (4.8%). Ten out of 114 (8.8%) offsprings had IBD (6 CD, 4 UC). When two siblings were affected, their respective age of disease onset was strikingly concordant (r = 0.76, p = 0.008). There was no difference between sporadic and familial CD patients in the age of disease onset, the location of disease, proportion of smokers or percentage of Ashkenazi origin. Furthermore, similar proportions of sporadic and familial patients underwent intestinal surgery, had penetrating or obstructive complications or were treated by immunomodulators and/or biologics. There was also no difference in the reported percentage of time with active disease or the number of flare-ups. Conclusions: The prevalence of familial disease among Jewish CD patients in Israel is at the high range of the rate found in other ethnicities. Having a positive family history of IBD has no impact on the severity of the disease. (Inflamm Bowel Dis 2008) [source] Evidence for Increased Clinical Severity of Familial and Sporadic Paget's Disease of Bone in Campania, Southern Italy,JOURNAL OF BONE AND MINERAL RESEARCH, Issue 12 2006Domenico Rendina Abstract The analysis of 236 Italian patients with Paget's bone disease showed higher clinical severity and greater frequency of neoplastic degeneration among patients who live or descend from individuals living in the Campania region (southern Italy). A prevalent involvement of the spine and the skull, the sites preferentially involved in giant cell tumors complicating Paget's disease, was also shown in familial cases from this geographical region. Introduction: The Campania region in southern Italy has been recently indicated as a high prevalence area for Paget's disease of bone (PDB), and most pagetic families with multiple occurrence of neoplasms in affected members were from this geographical region. Materials and Methods: We evaluated the PDB epidemiological characteristics in 125 patients from Campania in comparison with 111 patients from other Italian regions. Twenty-three patients from Campania and 26 patients from other Italian areas had at least one first-degree relative affected by PDB (familial cases). The remaining patients made up the sporadic cases. Results: Among subjects from Campania, the patients in the familial group tended to come from larger families and showed at diagnosis higher serum total alkaline phosphatase, larger extension of disease, and earlier mean age with respect to patients with PDB of the sporadic group. The skull, spine, and humerus were the sites preferentially involved in the familial cases. In contrast, no such differences were observed between familial and sporadic PDB cases among patients from the other geographical areas, except for a lower age at diagnosis. An increased PDB clinical severity was finally observed in the PDB cohort from Campania in comparison with patients from other Italian regions. Neoplastic degeneration of pagetic bones (osteosarcoma and giant cell tumor) was exclusively observed in patients with polyostotic PDB from Campania. Conclusions: We showed a higher clinical severity of PDB with occurrence of neoplastic degeneration in the high prevalence area of Campania, with its maximum expression in cases with familial disease. This peculiar pattern might be traced to genetic predisposition and/or to the abnormal impact of a still undefined environmental trigger. [source] Is Atrial Fibrillation a Genetic Disease?JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 5 2005RAMON BRUGADA M.D. Atrial fibrillation remains one of the most challenging arrhythmias for the clinician and basic researcher. Different approaches have been undertaken to improve its understanding; from the development of animal models to the analysis of genetic backgrounds in individuals with familial and acquired forms of the disease. In the last few years, a large body of evidence has shown that alterations in ionic currents are involved in the disease. However, it has not been until recently, with the genetic link between mutations in proteins responsible for these ionic currents and the familial disease, that we have been given the final evidence that atrial fibrillation can also be primarily an ion channelopathy. Despite the limited prevalence of the inherited diseases, it has been shown before that the knowledge gained in their study will be helpful in dealing with the most common acquired forms of the disease. Therefore, as data keep unraveling, clinicians can expect that soon better therapeutic and preventive options for atrial fibrillation will emerge from basic science. [source] Familial cerebral cavernous haemangioma diagnosed in an infant with a rapidly growing cerebral lesionJOURNAL OF MEDICAL IMAGING AND RADIATION ONCOLOGY, Issue 6 2006BHK Ng Summary Cavernous haemangiomas of the central nervous system are vascular malformations best imaged by MRI. They may present at any age, but to our knowledge only 39 cases in the first year of life have previously been reported. A familial form has been described and some of the underlying genetic mutations have recently been discovered. We present the clinical features and serial MRI findings of an 8-week-old boy who presented with subacute intracranial haemorrhage followed by rapid growth of a surgically proven cavernous haemangioma, mimicking a tumour. He also developed new lesions. A strong family history of neurological disease was elucidated. A familial form of cavernous haemangioma was confirmed by identification of a KRIT 1 gene mutation and cavernous haemangiomas in the patient and other family members. We stress the importance of considering cavernous haemangiomas in the context of intracerebral haemorrhage and in the differential diagnosis of rapidly growing lesions in this age group. The family history is also important in screening for familial disease. [source] Creutzfeldt-Jakob Disease in the Obstetric PatientJOURNAL OF OBSTETRIC, GYNECOLOGIC & NEONATAL NURSING, Issue 5 2005Randa Sperling Recent reports have indicated the presence of transmissible spongiform encephalopathy or Creutzfeldt-Jakob disease in the United States. This disease can occur as a rare, sporadic disease with no recognizable pattern of transmission or as a familial disease associated with prion protein gene mutations. This article discusses the presence of sporadic Creutzfeldt-Jakob disease in a woman who became pregnant early in the course of the disease and subsequent care pre- and postdelivery. [source] CADASIL,an unusual manifestation with prominent cutaneous involvementBRITISH JOURNAL OF DERMATOLOGY, Issue 2 2005G. Ratzinger Summary Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucencephalopathy (CADASIL) is a rare vascular disorder affecting mainly the central nervous system with transient ischaemic attacks, strokes, psychiatric symptoms and dementia. It is a progressive familial disease owing to mutations in the Notch3 gene. Clinically apparent skin involvement is usually absent. Electron microscopy of seemingly uninvolved skin reveals characteristic granular deposits in the basal lamina of vessels and adnexals. We report on a case of CADASIL with generalized haemorrhagic macules and patches. Typical neurological symptoms as well as classical findings in histopathology and electron microscopy confirmed the diagnosis. Immunofluorescence showed an increased number of vessels with walls markedly thickened by deposits of fibrin, complement and immunoglobulins. This method could serve as an additional method for accurate diagnosis of CADASIL. [source] | ||||||||||