scholarly journals Evaluation of attributable risk of dentoalveolar and facial anomalies prevalence among children depending on the features of family history

2017 ◽  
Vol 98 (5) ◽  
pp. 701-703
Author(s):  
Z U Aliev
Keyword(s):  
Family History ◽  
Age Groups ◽  
Attributable Risk ◽  
Control Group ◽  
Tooth Position ◽  
Facial Anomalies ◽  
The Family ◽  
History Of ◽  
The Difference ◽  
Close Relatives

Aim. To assess the attributable risk of dentoalveolar and facial anomalies prevalence among children depending on the features of family history. Methods. A sample of 2000 children was selected (250 boys and 250 girls from 4 age groups: 3-5, 6-9, 10-12 and 13-15 years). Characteristics of the family history was obtained by parents’ survey. The risk of dentoalveolar and facial anomalies was determined by comparing their frequency between groups with compromised and normal family history. Attributable risk was defined as the difference in the frequency of dentoalveolar and facial anomalies. Results. The number of teeth with abnormal position per 100 examined patients ranged widely: from 72.3±1.1 to 105.4±5.3. Depending on various characteristics of the family history, the attributable risk of anomalous tooth position varied in the range from 3.0 to 33.1 per 100 children. The highest attributable risk of anomalies of the tooth position in children was revealed in cases when their parents had a history of dentoalveolar and facial anomalies (33.1%). In the presence of close relatives’ history of dentoalveolar and facial anomalies (except grandparents) attributable risk of anomalies of the tooth position in children was 11.4-14.8%. In the groups of children, whose grandparents had a history of dentoalveolar and facial anomalies, the prevalence of anomalies of the tooth position (80.9±2.0 per 100 children) was not significantly different from that in the control group (77.9±1.0). It can be explained by the fact that during the parents’ survey they were not able to state with certainty grandparents’ history of dentoalveolar and facial anomalies. Conclusion. Compromised family history in children is associated with high attributable risk of anomalies of occlusion and tooth position.

Family history of breast cancer (BC) and biological and clinicopathologic features in Uruguayan BC patients

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. e11622-e11622
Author(s):  
C. Castillo ◽  
N. Artagaveytia ◽  
S. Mauriz ◽  
C. Meyer ◽  
G. Sena ◽  
...  
Keyword(s):  
Family History ◽  
Axillary Node ◽  
Her2 Status ◽  
Published Data ◽  
Significant Family History ◽  
The Family ◽  
History Of ◽  
Disease Extension ◽  
Close Relatives ◽  
And Behavior

e11622 Background: Hereditary BC can have a distinct phenotype and behavior in comparison to sporadic BC. The aim of the present study was to investigate if there is any difference in the age at diagnosis, disease extension and biological profile in BC patients (pts) with or without a significant family history of BC. Methods: We retrospectively reviewed clinical charts of BC pts, stage 0- III who had surgery between March 2006 and March 2008. We included pts with known estrogen receptor (ER), progesterone receptor (PR) and HER2 status. The family history was obtained from the clinical charts and confirmed by a telephone interview with a standardized questionnaire. A significant family history of BC was defined by the presence of one of the following criteria: (1) 3 or more BC cases among close relatives, at least one diagnosed before 50 years (2) 2 BC cases among close relatives, at least one diagnosed before 50 years and one of the following: bilateral BC, ovarian cancer diagnosed in the family, male BC, father´s inheritance, Ashkenazi Jewish ancestry Results: 435 pts were identified, with available data on ER/PR and HER2 status in 197 pts. Family history was evaluated in 136 pts (69%) and was classified as significant in 18 (13.2%). Between pts with and without a significant family history of BC cancer there were no difference in the proportion of pts < 50 years old at diagnosis (0.36 vs. 0.39), T3/T4 tumours (0.08 vs. 0.11), axillary node positivity (0.55 vs 0.66), ER/PR+ (0.77 vs. 0.72), HER2 + (0.11 vs. 0.11) and triple negative tumors (0.19 vs 0.17). Conclusions: our data does not show any difference in the main prognostic and predictive factors between operable BC pts with and without a significant family history of BC. These findings are concordant with previous published data about a greater prevalence of BRCA2 mutations in Uruguayan families. No significant financial relationships to disclose.

Family History of Children with Developmental Language Disorders

1986 ◽  
Vol 63 (2) ◽  
pp. 655-658 ◽  
Author(s):  
Jean Neils ◽  
Dorothy M. Aram
Keyword(s):  
Family History ◽  
Family Members ◽  
Language Disorders ◽  
Normal Control Group ◽  
Control Group ◽  
Reported Speech ◽  
Normal Children ◽  
Developmental Language Disorders ◽  
The Family ◽  
History Of

The present study shows the increased incidence of language-related disorders among family members of children with language disorders. The family histories of 74 children with developmental language disorders and 36 normal children were compared. The children with language disorders had significantly more family members who reported speech, stuttering, reading, and language disorders than the normal control group.

scholarly journals Parkinson's Disease: A Genetic Study

1986 ◽  
Vol 13 (3) ◽  
pp. 248-251 ◽  
Author(s):  
Ma. Elisa Alonso ◽  
Enrique Otero ◽  
Rosalinda D'Regules ◽  
Hector Hugo Figueroa
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Genetic Study ◽  
Early Onset ◽  
Positive Family History ◽  
Genetic Load ◽  
Control Group ◽  
The Family ◽  
History Of

ABSTRACT:A sample of 122 patients with Parkinson's Disease was studied for the purpose of investigating if the frequency of relatives affected with Parkinson in this group was higher than in a control group and to see if the genetic load was more important in some of the subtypes of Parkinson described by Barbeau and Pourcher (1982).7 In our 122 patients, we found that 1.7% were post-encephalic parkinsonian, 12.3% were symptomatic cases and 86% of the idiopathic variety. There were 16.1% early onset patients in the idiopathic group and among these we found 23.5% with a positive family history of Parkinson in the first-degree relatives. In 6 cases with the tremor onset form of the disease, the family history was positive and 5 patients, 4.7% had familial essential tremor-related Parkinsonism. Our results support Barbeau's hypothesis7.19 that Parkinson is a heterogeneous disease in which some subtypes (such as early onset Parkinson) have an important genetic subceptibility component.

Faktor-Faktor Determinan yang melatar belakangi Kehamilan Remaja di Desa Pandansari Kecamatan Poncokusumo Kabupaten Malang

2020 ◽  
Vol 7 (2) ◽  
pp. 247-255
Author(s):  
Maria Magdalena Setyaningsih ◽  
Emy Sutiyarsih
Keyword(s):  
Sex Education ◽  
Teen Pregnancy ◽  
Teenage Pregnancy ◽  
Well Being ◽  
Case Control ◽  
Control Group ◽  
Case Group ◽  
The Family ◽  
History Of ◽  
First Time

Kehamilan remaja adalah kehamilan yang terjadi pada remaja berusia kurang dari 20 tahunan. Kehamilan remaja memberikan banyak kerugian bagi kesehatan, mental dan psikologis, kesejahteraan ekonomi dan peluang karier, kemiskinan dan prospek kehidupan masa depan remaja. Tujuan penelitian mengidentifikasi faktor determinan yang melatarbelakangi terjadinya kehamilan remaja. Jenis penelitian adalah penelitian analitik kategorik jenis survei kuantitatif dengan desain case control. Populasi semua perempuan yang bertempat tinggal di wilayah dusun Wonosari, Sukosari, dan Krajan Pandansari dan pernah/sedang hamil pertama kali pada usia kurang dari 20 tahun. Teknik pengambilan sampel cluster random sampling besar sampel 73. Berdasarkan hasil model akhir analisis multivariat, diketahui bahwa variabel pendidikan, riwayat kehamilan remaja pada keluarga dan usia menikah merupakan variabel yang berhubungan dengan kejadian kehamilan remaja setelah dikontrol oleh variabel akses informasi, responden berpendidikan rendah memiliki peluang 20,8 kali lebih tinggi, responden yang memiliki riwayat kehamilan remaja pada keluarga memiliki peluang 14,9 kali lebih tinggi, responden yang menikah pada usia <20 tahun memiliki peluang 12,1 kali lebih tinggi, responden dengan pemahaman yang kurang baik terkait penggunaan kondom memiliki peluang 5,9 kali lebih tinggi untuk terjadi kehamilan remaja. Oleh karena itu perlu dibangun karakter buiding, sosial karakter suport untuk para ibu remaja dan keluarga sehingga terbangun interaksi yang baik dalam keluarga yang dilandasi dengan pendidikan dan pemahaman yang baik tentang Pendidikan seksualitas. Teen pregnancy is a pregnancy that occurs in adolescents aged less than 20 years old. Teen pregnancy provides many disadvantages for health, mental, psychological, economic well-being, career opportunities, poverty, and the future life. The aim of the study was to identify the determinants underlying teen pregnancy incidence. This study was a quantitative study with categorical analytic method. The study design used a case control with two comparison groups. The groups were control group and case group. The population in this study was all women who lived in the Wonosari, Sukosari, and Krajan Pandansari district and had or were pregnant for the first time at the age of less than 20 years old. Seventy three respondents were recruited using cluster sampling technique. The case group consists of women who were or had pregnant for the first time at the age of less than 20 years old and their children are currently aged ≤ 1 years old. The control group consists of women who were pregnant for the first time at the age of > 20 years old. The data was collected using a questionnaire. The findings showed that education, history of teen pregnancy in family and the age of marriage were related to the incidence of teen pregnancy after being controlled by information access. Low-educated respondents had 20.8 times higher chance of experiencing teen pregnancy; respondents with a history of teen pregnancy in the family had 4.9 times higher chance of experiencing teen pregnancy; respondents who were married at the age of < 20 years old had 12.1 times higher chance of experiencing teen pregnancy; respondents with poor understanding of condom use had 5.9 times higher chance of teenage pregnancy. In conclusion, the findings suggest to build good interactions in the family based on education and a good understanding of sex education.

scholarly journals Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

2021 ◽  
Vol 22 (9) ◽  
pp. 4700
Author(s):  
Michelle M. Monasky ◽  
Emanuele Micaglio ◽  
Giuseppe Ciconte ◽  
Ilaria Rivolta ◽  
Valeria Borrelli ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Risk Stratification ◽  
Brugada Syndrome ◽  
Electrophysiological Study ◽  
Functional Characterization ◽  
The Family ◽  
Novel Variant ◽  
History Of ◽  
Scn5a Gene

Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history of sudden death is generally not considered useful for arrhythmic risk stratification. We sought to demonstrate the usefulness of genetic testing and family history in diagnosis and risk stratification. The family history was collected for a proband who presented with a personal history of aborted cardiac arrest and in whom a novel variant in the SCN5A gene was found. Living family members underwent ajmaline testing, electrophysiological study, and genetic testing to determine genotype-phenotype segregation, if any. Patch-clamp experiments on transfected human embryonic kidney 293 cells enabled the functional characterization of the SCN5A novel variant in vitro. In this study, we provide crucial human data on the novel heterozygous variant NM_198056.2:c.5000T>A (p.Val1667Asp) in the SCN5A gene, and demonstrate its segregation with a severe form of BrS and multiple sudden deaths. Functional data revealed a loss of function of the protein affected by the variant. These results provide the first disease association with this variant and demonstrate the usefulness of genetic testing for diagnosis and risk stratification in certain patients. This study also demonstrates the usefulness of collecting the family history, which can assist in understanding the severity of the disease in certain situations and confirm the importance of the functional studies to distinguish between pathogenic mutations and harmless genetic variants.

Albumin in the Meconium of Infants with Cystic Fibrosis: A Preliminary Report

PEDIATRICS ◽  
1964 ◽  
Vol 33 (1) ◽  
pp. 115-119
Author(s):  
WILMER C. WISER ◽  
FRANCES R. BEIER
Keyword(s):  
Cystic Fibrosis ◽  
Family History ◽  
Protein Content ◽  
Preliminary Report ◽  
Diagnostic Procedure ◽  
Serum Proteins ◽  
Newborn Infants ◽  
Control Group ◽  
Abnormal Protein ◽  
History Of

Meconium samples were collected from 5 newborn infants, who had a known family history of cystic fibrosis of the pancreas but who did not present with meconium ileus, and 11 normal newborn infants. Extracts of the meconium samples were examined for the presence of serum proteins by paper and immunoelectrophoresis. Three of the infants who had a family history of cystic fibrosis of the pancreas showed protein in their meconium, and this was identified by immunoelectrophoresis as consisting mainly of albumin; each of these babies subsequently developed classic symptoms of cystic fibrosis of the pancreas. The two remaining infants had no albumin in the meconium and did not develop signs of cystic fibrosis. None of the meconium samples of the control group of infants contained detectable amounts of albumin. Possible sources of the abnormal protein content of meconium are discussed, and the suggestion that the finding of albumin in meconium of newborn infants may prove to constitute a valuable diagnostic procedure for screening newborn infants for cystic fibrosis of the pancreas is advanced.

Association between gastric cancer and the family history of gastric cancer

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Hyo Geun Choi ◽  
Wook Chun ◽  
Kuk Hyun Jung
Keyword(s):  
Gastric Cancer ◽  
Family History ◽  
The Family ◽  
History Of

Identification of Features Associated with Flying Phobia in Aircrew

1981 ◽  
Vol 139 (1) ◽  
pp. 38-42 ◽  
Author(s):  
R. C. B. Aitken ◽  
J. A. Lister ◽  
C. J. Main
Keyword(s):  
Family History ◽  
Skin Conductance ◽  
Predictive Value ◽  
Matched Control ◽  
Anxiety Symptoms ◽  
Control Group ◽  
Psychometric Tests ◽  
Matched Control Group ◽  
Spontaneous Fluctuation ◽  
History Of

SummaryThe psychological and physiological features of 20 aircrew consecutively referred for treatment of anxiety symptoms when flying were compared with a matched control group of uncomplaining aircrew. There were no significant differences between the two groups on psychometric tests of personality, though there were differences in skin conductance; the phobics had a higher rate of spontaneous fluctuation, and habituated less to a repeated auditory tone. More of the phobic group worried about their wives and acknowledged childhood and other adulthood phobias; more had a family history of an episode perhaps best described as flying trauma. Many were on an overseas posting when symptoms presented. These few features could correctly classify 85 per cent of the subjects into the phobic or control group. This type of ‘phobic aircrew index’ now requires to be validated prospectively for its predictive value.

scholarly journals Prostate cancer screening characteristics in men with BRCA1/2 mutations attending a high-risk prevention clinic

2014 ◽  
Vol 8 (11-12) ◽  
pp. 783 ◽  
Author(s):  
Richard Walker ◽  
Alyssa Louis ◽  
Alejandro Berlin ◽  
Sheri Horsburgh ◽  
Robert G. Bristow ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Family History ◽  
High Risk ◽  
Prostate Cancer Screening ◽  
Brca2 Mutation ◽  
Aggressive Disease ◽  
Mutation Carriers ◽  
The Family ◽  
History Of ◽  
Prevention Clinic

Introduction: The prostate-specific antigen (PSA) era and resultant early detection of prostate cancer has presented clinicians with the challenge of distinguishing indolent from aggressive tumours. Mutations in the BRCA1/2 genes have been associated with prostate cancer risk and prognosis. We describe the prostate cancer screening characteristics of BRCA1/2 mutation carriers, who may be classified as genetically-defined high risk, as compared to another high-risk cohort of men with a family history of prostate cancer to evaluate the utility of a targeted screening approach for these men.Methods: We reviewed patient demographics, clinical screening characteristics, pathological features, and treatment outcomes between a group of BRCA1 or BRCA2 mutation carriers and age-matched men with a family history of prostate cancer followed at our institutional Prostate Cancer Prevention Clinic from 1995 to 2012.Results: Screening characteristics were similar between the mutation carriers (n = 53) and the family history group (n = 53). Some cancers would be missed in both groups by using a PSA cut-off of >4 ug/L. While cancer detection was higher in the family history group (21% vs. 15%), the mutation carrier group was more likely to have intermediate- or high-risk disease (88% vs. 36%). BRCA2 mutation carriers were more likely to have aggressive disease, biological recurrence, and distant metastasis.Conclusions: In our cohort, regular screening appears justified for detecting prostate cancer in BRCA1 and BRCA2 carriers and other high-risk populations. Lowering PSA cut-offs and defining monitoring of PSA velocity as part of the screening protocol may be useful. BRCA2 is associated with more aggressive disease, while the outcome for BRCA1 mutation carriers requires further study. Large multinational studies will be important to define screening techniques for this unique high-risk population.

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