Familial prostatic adenocarcinoma in the A.U.S.L territory of Imola

1996 ◽  
Vol 63 (1_suppl) ◽  
pp. 7-12
Author(s):  
G. Vagliani ◽  
A. Perrone ◽  
G. Salvi ◽  
G. Misuriello ◽  
A. Di Silverio ◽  
...  

From 1987 to 1992, over 6,000 men aged between 50 and 79 years underwent mass screening for early diagnosis of prostatic carcinoma. They were also given an “epidemiological” questionnaire drawn up by a Urologist, which included information regarding civil status, fertility, working conditions, eating and smoking habits as well as tumours in the family. With regard to the latter, it appeared that 11% of patients with cancer have a positive family history against 2.2% in healthy men and 1.8% in individuals with benign prostatic hypertrophy. In order to investigate this aspect, 46 next of kin (brothers, sons) of patients with prostatic carcinoma (mean age 60 years, range 44–76) were enrolled in the study and subjected to DRE, TRUS and PSA assay. Patients with an alteration of one or more of the above-mentioned parameters (6 patients) underwent an echoguided biopsy (of nodule or normal). Only one (aged 52 years, PSA 12.1, DRE negative, TRUS small hypoechogenic area, prostatic volume 80 cc) had grade 2 PIN. Prostatectomy performed on the patient in another hospital showed that he had fibromyo-glandular hyperplasia. Results are discussed and compared with those reported in literature.

2021 ◽  
Vol 6 (2) ◽  
pp. 101-107
Author(s):  
O. I. Matsyura ◽  
◽  

Food hypersensitivity is a reaction to the food consumed, regardless of the pathogenetic mechanisms that cause the symptoms. It is an actual and controversial problem in pediatric practice. Nowadays there is an active search for the causes of disease progression, a large role is given to the study of genetic and external factors (food, environmental, social). This disease arises many questions due to the similarity of the clinical representation in different kinds of food hypersensitivity and in different pathogenetic mechanisms, which are involved. The purpose of the study is to perform the analysis of factors, which cause appearance of food hypersensitivity in toddlers. Materials and methods. A study of the number of children with food intolerance was conducted using a specially compiled questionnaire. Thus, 4,500 questionnaires were distributed in pre-school and medical establishments to question parents. Results and discussion. Analysis of 3,214 questionnaires was conducted, which enabled to obtain information from parents on anamnesis and living conditions of toddlers. Values of 56 factors were analyzed, calculating correlation coefficients with a formation of food hypersensitivity for each of them. Statistical analysis allowed distinguishing 15 signs among these factors, which significantly correlated with the formation of food hypersensitivity in young children. The investigation enabled not only to detect factors that affect formation of food hypersensitivity in young children, but also to suggest a mathematical model of individual calculation of risk factors for this pathology. Data of conducted mathematical analysis can be used for elaboration of a complex of prophylaxis measures on development of food hypersensitivity in toddlers. Conclusion. The formation of hypersensitivity to cow's milk in children is provoked by the presence of contact reactions in the child, adverse reactions after medication, positive family history (bronchial asthma in relatives, skin diseases in parents (father and / or mother)), smoking in the family, living in the city; at the same time, preventive factors are living in an apartment, in a new building, in a dry apartment. The formation of food hypersensitivity in young children is generally provoked by a positive family history (bronchial asthma, hay fever, urticaria, diseases of the stomach and duodenum in relatives, skin diseases in parents), smoking in the family; frequent consumption of food in a mass catering points; living in the city plays a preventive role


PEDIATRICS ◽  
1957 ◽  
Vol 19 (5) ◽  
pp. 908-915
Author(s):  
Eugene F. Diamond

A study of cases of rheumatic fever admitted to La Rabida Sanitarium over a 5-year period was carried out to evaluate heredity and environment as etiologic factors in rheumatic disease. The incidence of rheumatic fever was shown to be higher in families where one or both parents were known to have a positive family history of rheumatic fever. The incidence of rheumatic fever was compared in environmental groups. A totally unfavorable environment was shown to increase the incidence of rheumatic fever. No single unfavorable environmental factor changed the incidence of rheumatic fever. The incidence of rheumatic fever in each environmental group was higher when there was a positive family history for rheumatic fever, indicating an hereditary factor in the family incidence of rheumatic fever. Analysis of the various mating types in the families with a positive rheumatic trait was carried out. Agreement with a simple autosomal recessive gene inheritance was obtained in families where both parents had a definite family history, but no agreement was obtained in cases where only one parent gave a positive family history.


1992 ◽  
Vol 5 (1) ◽  
pp. 39-41 ◽  
Author(s):  
V. Eapen ◽  
M. M. Robertson

A case of the Gilles de la Tourette syndrome from Guyana in South America is presented. The patient had a positive family history as well as coprolalia, echolalia, and attention deficit disorder with hyperactivity. The family history and cross-cultural similarity emphasise the biological factors in the aetiology of the syndrome.


2017 ◽  
Vol 19 (6) ◽  
pp. 690-695 ◽  
Author(s):  
Esther B. Dupépé ◽  
Daxa M. Patel ◽  
Brandon G. Rocque ◽  
Betsy Hopson ◽  
Anastasia A. Arynchyna ◽  
...  

OBJECTIVE Although there are known risk factors for the development of neural tube defects (NTDs), little is known regarding the role of family history. The authors' goal in this study is to describe the family history in their population of patients with NTDs. METHODS Surveys were completed for 254 patients who were accompanied by their biological mother during their annual visit to the multidisciplinary Spina Bifida Clinic at Children's of Alabama. An NTD has been diagnosed in all patients who are seen in this clinic (myelomeningocele, lipomeningocele, split cord malformation, and congenital dermal sinus tract). Each mother answered questions regarding known NTD risk factors and their pregnancy, as well as the family history of NTDs, other CNS disorders, and birth defects. RESULTS The overall prevalence of family history of NTDs in children with an NTD was 16.9% (n = 43), of which 3.1% (n = 8) were in first-degree relatives. In patients with myelomeningocele, 17.7% (n = 37) had a positive family history for NTDs, with 3.8% in first-degree relatives. Family history in the paternal lineage for all NTDs was 8.7% versus 10.6% in the maternal lineage. Twenty-two patients (8.7%) had a family history of other congenital CNS disorders. Fifteen (5.9%) had a family history of Down syndrome, 12 (4.7%) had a family history of cerebral palsy, and 13 (5.1%) patients had a family history of clubfoot. Fourteen (5.5%) had a family history of cardiac defect, and 13 (5.1%) had a family history of cleft lip or palate. CONCLUSIONS The family history of NTDs was 16.9% in children with NTD without a difference between maternal and paternal lineage. This high rate of positive family history suggests that genetics and epigenetics may play a larger role in the pathogenesis of NTD in the modern era of widespread folate supplementation.


Author(s):  
Toshimasa Nakada

An epidemiological study showed that a positive family history of Kawasaki disease (KD) was a risk factor for intravenous immunoglobulin (IVIG) therapy resistance, coronary artery lesions (CALs), and KD recurrence. However, real-world outcomes of KD patients with a family history remain unclear. The objective of this study was to elucidate the outcomes of KD patients with a family history in the era of 2 g/kg IVIG therapy. This retrospective study included data from 201 KD patients who underwent acute-phase treatment from January 2009 to June 2020, with 184 (91.5%) receiving 2 g/kg IVIG therapy. The patients were divided into 13 (family group) with and 188 (nonfamily group) without a family history of KD. The rates of IVIG resistance (8.3% vs. 22.1%, P = 0.315), rescue therapy (8.3% vs. 12.8%, P = 1.000), CALs (0.0% vs. 2.7%, P = 1.000), and KD recurrence (0.0% vs. 3.2%, P = 1.000) were similar between the family and nonfamily groups.


2021 ◽  
Vol 14 (10) ◽  
pp. e244350
Author(s):  
Aparna Rao ◽  
Rakhi P Dcruz

Anterior megalophthalmos usually presents early in life with megalocornea, deep anterior chamber, raised intraocular pressure, glaucomatous optic nerve damage and iridodonesis/stromal thinning with positive family history. We report atypical features and presentations in two patients (four eyes) with non-familial megalophthalmos. While the first patient, a male, presented at 51 years of age with megalocornea, cataract, phacodonesis, normal pupillary dilatation/normal iris and advanced glaucoma, the second patient presented with iridodonesis with stromal thinning, aphakia and advanced glaucoma. The family history was negative in both patients. The vitreous index was unusually high, >70% in all four eyes, owing to aphakia in the second patient and possible late presentation/variant phenotype in the first patient. Thus, atypical features such as greater vitreous length, absent iris involvement and late-onset adult presentation are common in non-familial anterior megalophthalmos. Clinical surprises due to varied phenotypes should be kept in mind in such cases.


2021 ◽  
Vol 39 (28_suppl) ◽  
pp. 221-221
Author(s):  
Shayna Weiner ◽  
Erika Amini ◽  
Erika Koeppe ◽  
Ken Resnicow ◽  
Elena Martinez Stoffel ◽  
...  

221 Background: A complete family history is essential in identifying patients who may benefit from genetic evaluation for hereditary cancer syndromes. Fewer than 40% of patients with cancer have a complete family history documented in their medical record. As part of a larger study of patient- and provider-focused interventions for increasing genetic testing, we conducted a survey of provider barriers to collecting and documenting a complete family history in a statewide, physician-led quality consortium of nearly all medical and gynecologic oncologists in Michigan. Methods: A novel survey instrument was created by adapting existing literature and clinician input. Surveys were mailed to medical and gynecologic oncologists with follow up electronic surveys sent to non-respondents. Questions addressed patient-specific barriers as well as known constraints faced by oncologists. Each barrier was rated from low to high using a 10-point Likert scale. Descriptive statistics, including mean scores and standard deviations (SD), were calculated. Results: Of 317 surveys sent, 194 (61.2%) were returned. Oncologists rated constraints on their time lower than lack of patient knowledge and understanding of their family history and its importance as a barrier. Open-ended responses indicated that the processes of collecting a family history (e.g. templates for collecting family history that omit age at diagnosis) and patients being overwhelmed at the time of consultation also interfered with collecting a complete family history. Conclusions: Oncologists perceive patient knowledge of their family history, including the ages of affected family members, and understanding of its importance as barriers to completion and documentation of a family history. Explaining the importance of the family history to patients, prompting new patients to provide their family history, and improving the process, including the timing of collection, may increase the proportion of oncology patients who have a complete family history collected and documented.[Table: see text]


2006 ◽  
Vol 112 (3) ◽  
pp. 289-294 ◽  
Author(s):  
Jan Sundell ◽  
Hanna Laine ◽  
Olli T. Raitakari ◽  
Matti Luotolahti ◽  
Pirjo Nuutila ◽  
...  

Diabetologia ◽  
2020 ◽  
Author(s):  
Anna Parkkola ◽  
◽  
Maaret Turtinen ◽  
Taina Härkönen ◽  
Jorma Ilonen ◽  
...  

Abstract Aims/hypothesis Shared aetiopathogenetic factors have been proposed in type 1 diabetes and type 2 diabetes and both diseases have been shown to cluster in families. Characteristics related to type 2 diabetes have been described in patients with type 1 diabetes with a positive family history of type 2 diabetes. We wanted to characterise the family history of type 2 diabetes and its possible effects on the phenotype and genotype of type 1 diabetes in affected children at diagnosis. Methods A total of 4993 children under the age of 15 years with newly diagnosed type 1 diabetes from the Finnish Pediatric Diabetes Register were recruited (56.6% boys, median age of 8.2 years) for a cross-sectional, observational, population-based investigation. The family history of diabetes at diagnosis was determined by a structured questionnaire, and markers of metabolic derangement, autoantibodies and HLA class II genetics at diagnosis were analysed. Results Two per cent of the children had an immediate family member and 36% had grandparents with type 2 diabetes. Fathers and grandfathers were affected by type 2 diabetes more often than mothers and grandmothers. The children with a positive family history for type 2 diabetes were older at the diagnosis of type 1 diabetes (p < 0.001), had higher BMI-for-age (p = 0.01) and more often tested negative for all diabetes-related autoantibodies (p = 0.02). Conclusions/interpretation Features associated with type 2 diabetes, such as higher body weight, older age at diagnosis and autoantibody negativity, are more frequently already present at the diagnosis of type 1 diabetes in children with a positive family history of type 2 diabetes. Graphical abstract


2017 ◽  
Vol 2 (2) ◽  

Acne scarrings and papulopustular rosacea (PPR) are well documented cutaneous condition associated with major psychosocial morbidity. The burden of disease to the family and society is significant. A positive family history is a predictor. Inflammation involved an interplay of body inmate immunity and pro-inflammatory mediators, cytokines, neuropeptides and defence immune response to microbiomes results acneiform eruption. Modern research in molecular biology, neuroimmunology and clinical science enable the practicing physician to understand more about the pathogenesis of this complex skin disease and hence better therapeutic measures and management of the disease.


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