Familial Acromegaly : Case report and review of the litterature
Beckers, Albert ; Stevenaert, Achille ; et al
in The 6th International Pituitary Congress - Abstract book (1999)Detailed reference viewed: 5 (0 ULg)
Familial Acromegaly : Family screening and assetment in the familial isolated pituitary adenoma (FIPA)
; ; Daly, Adrian et al
in 10th European Congress of Endocrinology - Abstract book (2008)Detailed reference viewed: 15 (1 ULg)
Familial Acromegaly: Case Report and Review of the Literature
Verloes, Alain ; Stevenaert, Achille ; et al
in Pituitary (1999), 1(3-4), 273-277
Familial acromegaly is an exceptional clinical entity when not associated with features of multiple endocrine neoplasia type 1 (MEN1). We report here 3 pedigrees in each of which 2 patients have been ... [more ▼]
Familial acromegaly is an exceptional clinical entity when not associated with features of multiple endocrine neoplasia type 1 (MEN1). We report here 3 pedigrees in each of which 2 patients have been shown to develop acromegaly. In 4 patients, clinical follow-up, and biological screening allowed to confidently exclude MEN1. Absence of mutation in the MEN1 gene after direct DNA analysis in 2 pedigrees reinforces the conviction that the families do not have MEN1. In families 1 and 2, diagnosis was made at a very early age and voluminous adenomas with suprasellar expansion were already present at the time of diagnosis. We review the 20 previous reports of familial acromegaly, some of them questionable. Our 3 families, combined with some other published pedigrees, allow the delineation of a familial form of acromegaly, distinct from MEN1. Dominant inheritance with reduced, age-dependant penetrance is the most parsimonious model to explain the recurrences. Gs protein pathway could be the site of action of the gene responsible of familial acromegaly, but no data have been published to sustain or reject this hypothesis. [less ▲]Detailed reference viewed: 27 (1 ULg)
Familial adenomatous polyposis: clinical presentation, detection and surveillance.
; ; Vander Auwera, Jacqueline et al
in Acta Gastro-Enterologica Belgica (2011), 74(3), 415-20
Colorectal cancer (CRC) is a leading cause of cancer related death in the western countries. It remains an important health problem, often under-diagnosed. The symptoms can appear very late and about 25 ... [more ▼]
Colorectal cancer (CRC) is a leading cause of cancer related death in the western countries. It remains an important health problem, often under-diagnosed. The symptoms can appear very late and about 25% of the patients are diagnosed at metastatic stage. Familial adenomatous polyposis (FAP) is an inherited colorectal cancer syndrome, characterized by the early onset of hundred to thousands of adenomatous polyps in the colon and rectum. Left untreated, there is a nearly 100% cumulative risk of progression to CRC by the age of 35-40 years, as well as an increased risk of various other malignancies. CRC can be prevented by the identification of the high risk population and by the timely implementation of rigid screening programs which will lead to special medico-surgical interventions. [less ▲]Detailed reference viewed: 159 (4 ULg)
Familial aggregation and antimicrobial response dose-dependently affect the risk for Crohn's disease.
; Van Steen, Kristel ; et al
in Inflammatory Bowel Diseases (2010), 16(1), 58-67
BACKGROUND:: An increased risk of Crohn's disease (CD) has been reported consistently in first-degree relatives of patients. Our aim was to test whether a combination of CD-associated genes involved in ... [more ▼]
BACKGROUND:: An increased risk of Crohn's disease (CD) has been reported consistently in first-degree relatives of patients. Our aim was to test whether a combination of CD-associated genes involved in innate immunity and/or antibody responses to microbial antigens may be valuable in identifying healthy relatives at risk. METHODS:: We investigated 86 families from Belgium and northern France, 45 with at least 3 first-degree relatives with CD, 24 with a single case, and 17 control families without inflammatory bowel disease (IBD). The cohort consisted of 186 CD patients, 290 healthy relatives, and 142 controls (total 618). Genetic (NOD2, NOD1, TLR4, CARD8) and serologic markers (ASCA, ACMA, ALCA, ACCA, ASigmaMA, OmpC, CBir1, I2) were determined in all subjects. All Belgian families were prospectively followed up for 54 months. RESULTS:: In multiple-affected families, an increment of affected first-degree relatives and of positive antibodies were additive risks factors for CD (P < 0.0001), independent of NOD2 mutations. When comparing subjects from multiple-affected families, having 3 additional first-degree relatives with CD and 1 additional positive antibody increased the odds for CD to 9.19 (95% confidence interval [CI]: 4.07-20.80). After a follow-up of 54 months among all Belgian families, a total of 4 new diagnoses of IBD were confirmed in the multiple-affected families only, resulting in a 57-fold increase in incidence within multiple-affected families compared to the known incidence of IBD in our region. CONCLUSIONS:: We found an additive risk increment for CD in subjects from multicase families per additional affected relative and per additional positive antibody, independent of NOD2. Furthermore, a very high disease incidence was observed in these multiple-affected families. Inflamm Bowel Dis 2010. [less ▲]Detailed reference viewed: 31 (3 ULg)
Familial and Other Conversations: Special Issue on Caryl Phillips
in Moving Worlds : A Journal of Transcultural Writings (2007), 7(1), 123Detailed reference viewed: 45 (4 ULg)
Familial and socio-economic conditions in relation to cardiovascular risk factors in children. The Belgian Luxembourg Child Study.
Guillaume, Michèle ; ;
in Acta Paediatrica (1999), 88Detailed reference viewed: 5 (3 ULg)
Familial basilar migraine associated with a new mutation in the ATP1A2 gene
; ; et al
in Neurology (2005), 65(11), 1826-1828
Basilar migraine (BM), familial hemiplegic migraine (FHM), and sporadic hemiplegic migraine (SHM) are phenotypically similar subtypes of migraine with aura, differentiated only by motor symptoms, which ... [more ▼]
Basilar migraine (BM), familial hemiplegic migraine (FHM), and sporadic hemiplegic migraine (SHM) are phenotypically similar subtypes of migraine with aura, differentiated only by motor symptoms, which are absent in BM. Mutations in CACNA1A and ATP1A2 have been found in FHM. The authors detected a novel mutation in the ATP1A2 gene (R548H) in members of a family with BM, suggesting that BM and FHM may be allelic disorders. [less ▲]Detailed reference viewed: 24 (0 ULg)
Familial colloid cyst of the third ventricle: neuroendocrinological follow-up and review of the literature.
Valdes Socin, Hernan Gonzalo ; ; et al
in Clinical Neurology & Neurosurgery (2002), 104(4), 367-370
Colloid cysts of the third ventricle are rare, benign cysts of endodermal origin. Between 1989 and 1999, eight patients with this lesion (five females, three males), with a mean age of 40.5 years (range ... [more ▼]
Colloid cysts of the third ventricle are rare, benign cysts of endodermal origin. Between 1989 and 1999, eight patients with this lesion (five females, three males), with a mean age of 40.5 years (range 20-54), were identified out of 1354 operated for tumours of the central nervous system. Among the eight, two were familial. They were half sisters 38 and 28 years-old, who were diagnosed to have colloid cysts of the third ventricle on CT scanning. Transcortical excision yielded 10 and 15 mm sized colloid cysts, respectively. Moreover, both sisters developed a multinodular goiter associated with these congenital tumours. The second sibling developed hyperprolactinemia associated with macroprolactinemia. Pregnancy was only possible after bromocriptine treatment. These cases provide further evidences that colloid cysts probably have an autosomic recessive pattern of inheritance with variable penetrance. [less ▲]Detailed reference viewed: 26 (0 ULg)
Familial Crohn's Disease: A Study of 18 Families
; Belaiche, Jacques ; Louis, Edouard et al
in Acta Gastro-Enterologica Belgica (1997), 60(2, Apr-Jun), 134-7
The high frequency of familial Crohn's disease (CD) suggests a genetic predisposition. The most recent data from epidemiology and molecular biology are consistent with a multifactorial, polygenic ... [more ▼]
The high frequency of familial Crohn's disease (CD) suggests a genetic predisposition. The most recent data from epidemiology and molecular biology are consistent with a multifactorial, polygenic inheritance with a possible genetic heterogeneity. The aim of our study was, first to compare familial and sporadic CD on the basis of the type and location of the disease, and age at diagnosis, and second, to evaluate among families, the concordance rate for the type and location of the disease. PATIENTS AND METHODS: 18 families with 2 (n = 16) and 3 (n = 2) affected first degree relatives were studied. They were compared to a population of 154 sporadic CD coming from the same gastroenterology unit. RESULTS: Age at diagnosis was the same in sporadic and familial CD. There was an increased frequency of ileal (p = 0.02), and fibro stenotic (p = 0.005) CD and a decreased frequency of colonic (p = 0.006) and inflammatory (p = 0.02) disease, in familial CD. There was a significant increase in concordance rate for fibrostenotic disease (p < 0.001) and a decrease for inflammatory disease (p < 0.01), among the families. The observed concordance rate for the location of the disease was not significantly different from the expected one. In conclusion, these data suggest that CD may be heterogenous and that different clinical patterns may be determined either by genetic or environmental factors. [less ▲]Detailed reference viewed: 10 (1 ULg)
Familial epidermolysis Bullosa in "Beaucerons" puppies
Fontaine, Jacques ; Remy, Isabelle ; et al
in ESVD Annual Meeting, pre-congress-day of the XVII WSAVA World Congress - Rome - Italie - Septembre 1992 (1992, September)Detailed reference viewed: 16 (1 ULg)
Familial expression of spontaneous cervical artery dissections and Ehlers-Danlos syndrome hypermobile type.
Hermanns-Lê, Trinh ; ; Pierard, Gérald
in Skin and Stem Cells (2014), 3Detailed reference viewed: 11 (1 ULg)
Familial glomerulopathy in seven French Mastiff dogs.
Lavoué, Rachel ; ; Busoni, Valeria et al
in Proceedings of the 18th Annual Congress of the ECVIM-CA (2008)Detailed reference viewed: 40 (7 ULg)
Familial hypocalciuric hypercalcemia : a rare cause of recurrent pancreatitis
Daniel, Sara ; Potorac, Iulia ; MALAISE, Olivier et al
in Abstract book - 24th Meeting of the Belgian Endocrine Society (2014, October 18)Detailed reference viewed: 16 (2 ULg)
Familial influences on cortical evoked potentials in migraine.
; ; et al
in Neuroreport (1999), 10(6), 1235-8
Cortical information processing in migraine patients is impaired between attacks, showing deficient habituation of pattern-reversal visual evoked potentials (VEP), and strong intensity dependence of ... [more ▼]
Cortical information processing in migraine patients is impaired between attacks, showing deficient habituation of pattern-reversal visual evoked potentials (VEP), and strong intensity dependence of auditory cortical evoked potentials (IDAP). This could be a genetic trait as certain genetic patterns are known for evoked potentials in healthy subjects. We investigated VEP habituation and IDAP in 20 pairs of migraineurs made up of parents and their children. Using a Monte-Carlo statistical method, we selectively assessed vertical familial influences. VEP habituation and IDAP were abnormal in both parents and children. However, similarity was far more pronounced between related pairs than between unrelated pairs. Familial influences are highly significant in determinants of cortical information processing in migraineurs, hence supporting the important role of genetic factors. [less ▲]Detailed reference viewed: 14 (5 ULg)