scholarly journals Familial appendiceal tumours in Diffuse Peritoneal Adenomucinosis and peritoneal mucinous carcinomatosis: A rare familial predisposition?

2016 ◽  
Vol 3 (1) ◽  
Author(s):  
Samuel J. Davies ◽  
Mathew Doyle ◽  
Sonia Tran ◽  
Helen Kennedy ◽  
David L. Morris
Keyword(s):  
Familial Predisposition ◽  
Peritoneal Mucinous Carcinomatosis

Screening for celiac disease among children with overweight and obesity: toward exploring celiac iceberg

2020 ◽  
Vol 33 (8) ◽  
pp. 995-1002
Author(s):  
Valeria Calcaterra ◽  
Corrado Regalbuto ◽  
Matteo Manuelli ◽  
Catherine Klersy ◽  
Gloria Pelizzo ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Weight Gain ◽  
Autoimmune Diseases ◽  
Medical History ◽  
Unknown Origin ◽  
Overweight And Obesity ◽  
Excessive Weight Gain ◽  
Familial Predisposition ◽  
Excessive Weight ◽  
Hla Dq2

AbstractObjectivesThe coexistence of celiac disease (CD) and obesity/overweight is not unusual. We investigate the prevalence and clinical presentation of CD, detected by screening, among children with excessive weight gain.MethodsWe enrolled 200 children referred for overweight/obesity to our outpatient clinic. Medical history during pregnancy and childhood and lifestyle variables were recorded. Patients were screened for CD with total immunoglobulin A (IgA), IgA anti-transglutaminase (tTG-IgA) and IgA anti-endomysial antibodies (EMA-IgA). In subjects with positive autoantibodies, esophagogastroduodenoscopy (EGDS) was performed and genetic testing for HLA DQ2 and/or DQ8 haplotypes was tested.ResultsCD positive antibodies (tTg-IgA and EMA-IgA) were detected in eight patients (4%); in all subjects CD diagnosis was confirmed by HLA-DQ2 and/or DQ8 compatibility and EGDS. No association between CD and medical history during pregnancy and childhood or lifestyle variables was noted; however, a dietary difference was identified with those testing positive for CD also reporting a lower weekly consumption of fruits and vegetables (p=0.04). Headache was reported more frequently in patients with than without CD (p=0.04). Familiar positivity for autoimmune diseases was revealed in CD patients (p=0.01).ConclusionCD should be considered in children with excessive weight gain. Familial predisposition to other autoimmune diseases may represent a risk factor for development of CD. Even though the relationship between headache and CD is not well defined, the patients with headache of unknown origin should be screened for CD.

Familiarity of cirrhosis. Familial predisposition or environmental factors?

1989 ◽  
Vol 9 ◽  
pp. S203 ◽  
Author(s):  
L. Paste ◽  
G. D'Amico ◽  
G. Vizzini ◽  
M. Coltagirone ◽  
L. Pagliaro
Keyword(s):  
Environmental Factors ◽  
Familial Predisposition

scholarly journals Cerebellar liponeurocytoma: a rare intracranial tumor with possible familial predisposition. Case report

2016 ◽  
Vol 125 (1) ◽  
pp. 57-61 ◽  
Author(s):  
Amparo Wolf ◽  
Huda Alghefari ◽  
Daria Krivosheya ◽  
Michael D. Staudt ◽  
Gregory Bowden ◽  
...  
Keyword(s):  
Tumor Development ◽  
Healthy Woman ◽  
Intracranial Tumor ◽  
Intracranial Tumors ◽  
Histopathological Changes ◽  
Biological Origin ◽  
Familial Predisposition ◽  
History Of ◽  
Cerebellar Liponeurocytoma ◽  
Supracerebellar Infratentorial Approach

The biological origin of cerebellar liponeurocytomas is unknown, and hereditary forms of this disease have not been described. Here, the authors present clinical and histopathological findings of a young patient with a cerebellar liponeurocytoma who had multiple immediate family members who harbored similar intracranial tumors. A 37-year-old otherwise healthy woman presented with a history of progressive headaches. Lipomatous medulloblastoma had been diagnosed previously in her mother and maternal grandfather, and her maternal uncle had a supratentorial liponeurocytoma. MRI revealed a large, poorly enhancing, lipomatous mass emanating from the superior vermis that produced marked compression of posterior fossa structures. An uncomplicated supracerebellar infratentorial approach was used to resect the lesion. Genetic and histopathological analyses of the lesion revealed neuronal, glial, and lipomatous differentiation and confirmed the diagnosis of cerebellar liponeurocytoma. A comparison of the tumors resected from the patient and, 22 years previously, her mother revealed similar features. Cerebellar liponeurocytoma is a poorly understood entity. This report provides novel evidence of an inheritable predisposition for tumor development. Accurate diagnosis and reporting of clinical outcomes and associated genetic and histopathological changes are necessary for guiding prognosis and developing recommendations for patient care.

scholarly journals Psoriasis: familial predisposition and environmental factors.

BMJ ◽  
1985 ◽  
Vol 291 (6501) ◽  
pp. 999-1000 ◽  
Author(s):  
G Kavli ◽  
O H Forde ◽  
E Arnesen ◽  
S E Stenvold
Keyword(s):  
Environmental Factors ◽  
Familial Predisposition

scholarly journals The role of the renin–angiotensin–aldosterone system in preeclampsia: genetic polymorphisms and microRNA

2013 ◽  
Vol 50 (2) ◽  
pp. R53-R66 ◽  
Author(s):  
Jie Yang ◽  
Jianyu Shang ◽  
Suli Zhang ◽  
Hao Li ◽  
Huirong Liu
Keyword(s):  
Genetic Polymorphisms ◽  
Large Scale ◽  
Salt Water ◽  
Prognostic Significance ◽  
Neonatal Morbidity ◽  
Well Being ◽  
Normal Pregnancy ◽  
Placental Perfusion ◽  
Familial Predisposition ◽  
Increased Risk

The compensatory alterations in the rennin–angiotensin–aldosterone system (RAAS) contribute to the salt–water balance and sufficient placental perfusion for the subsequent well-being of the mother and fetus during normal pregnancy and is characterized by an increase in almost all the components of RAAS. Preeclampsia, however, breaks homeostasis and leads to a disturbance of this delicate equilibrium in RAAS both for circulation and the uteroplacental unit. Despite being a major cause for maternal and neonatal morbidity and mortality, the pathogenesis of preeclampsia remains elusive, where RAAS has been long considered to be involved. Epidemiological studies have indicated that preeclampsia is a multifactorial disease with a strong familial predisposition regardless of variations in ethnic, socioeconomic, and geographic features. The heritable allelic variations, especially the genetic polymorphisms in RAAS, could be the foundation for the genetics of preeclampsia and hence are related to the development of preeclampsia. Furthermore, at a posttranscriptional level, miRNA can interact with the targeted site within the 3′-UTR of the RAAS gene and thereby might participate in the regulation of RAAS and the pathology of preeclampsia. In this review, we discuss the recent achievements of genetic polymorphisms, as well as the interactions between maternal and fetal genotypes, and miRNA posttranscriptional regulation associated with RAAS in preeclampsia. The results are controversial but utterly inspiring and attractive in terms of potential prognostic significance. Although many studies suggest positive associations with genetic mutations and increased risk for preeclampsia, more meticulously designed large-scale investigations are needed to avoid the interference from different variations.

Local heat stress and skin blood flowmotion in subjects with familial predisposition or newly diagnosed hypertension

2010 ◽  
Vol 19 (6) ◽  
pp. 366-372 ◽  
Author(s):  
Barbara Gryglewska ◽  
Mirosław Nęcki ◽  
Marcin Cwynar ◽  
Tomasz Baron ◽  
Tomasz Grodzicki
Keyword(s):  
Heat Stress ◽  
Local Heat ◽  
Newly Diagnosed ◽  
Familial Predisposition

Familial Predisposition for Degenerative Disc Disease

Spine ◽  
1996 ◽  
Vol 21 (13) ◽  
pp. 1527-1529 ◽  
Author(s):  
Edward D. Simmons ◽  
Madhuri Guntupalli ◽  
Joseph M. Kowalski ◽  
Felix Braun ◽  
Thomas Seidel
Keyword(s):  
Degenerative Disc Disease ◽  
Disc Disease ◽  
Familial Predisposition ◽  
Degenerative Disc
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