The aim of this cross-sectional convenience sample survey was to assess attitudes of French dentists regarding stage III-IV grade C periodontitis in systemically healthy individuals. Among 225 dentists, 85.1% informed patients of the familial nature of periodontitis including 27.3% that recommended a consultation for the family. When dealing with a child who presented with severe periodontitis, 42.2% of the respondents did not advise examination of the parents. In addition, 39.1% of practitioners did not consider it possible to establish a family consultation. Finally, family factors are not often considered by French practitioners in the management of grade C periodontitis.

This study aimed to determine the potential effect of genetic factors and positive family history on the familial aggregation of urolithiasis in Iran. Of the total 44,186 participants in the Iran National Stone Survey (INSS) database, 34,953 individuals who were members of 8629 nuclear families were included in this study. The mean prevalence of urolithiasis was 5.7% [95%CI: 5.5 - 6.0%] in this subpopulation. Familial aggregation of urolithiasis was analyzed in 34,745 participants (99.6% of those originally included) utilizing a multivariable logistic regression with second order generalized estimating equations approach (GEE2) to adjust for sex, age, urbanization status and ethnicity. Recurrence risk ratios (λ) were used to evaluate the degree of familial aggregation. Our multivariable analysis demonstrated a strong familial aggregation of urolithiasis within sibling pairs (λs = 78.35), parent-offspring pairs (λo = 40.12) and spouse pairs (λsp = 21.62). The respective ORs were 5.65 [95%CI: 3.49, 9.14] for siblings, 2.85 [95%CI: 2.20, 3.68] for parents and 1.27 [95%CI: 1.06, 1.54] for spouses. Urinary stone disease tends to aggregate in families with a positive history of urolithiasis in either the parents or siblings. Siblings have a more prominent effect in inducing familial aggregation compared to parents. Despite the prominent role of familial genetic components in urolithiasis aggregation, shared environmental factors appear to partake in this phenomenon to some extent, as suggested by urolithiasis aggregation among spouse pairs.

Background Vitiligo, characterized by depigmented patches due to melanocyte loss, involves genetic, autoimmune, and environmental factors. Recent studies suggest a link between family history, consanguinity, and vitiligo prevalence, particularly in regions with prevalent consanguineous marriages. This study explored the relationship between consanguinity and familial vitiligo prevalence in Saudi Arabia. Methods A case-control study enrolled 792 participants from Saudi dermatology clinics (382 vitiligo cases, 408 controls). Family histories and consanguinity levels were assessed. Logistic regression analysis, adjusting for relevant variables, evaluated associations. Results Significant associations were found between vitiligo and both parental consanguinity and family history. Cases had higher consanguinity rates, with 246 out of 382 (64.4%), compared to controls, with 161 out of 408 (39.5%). A positive family history of vitiligo was more common in cases, with 184 out of 382 (48.2%) than in controls, with 90 out of 408 (22.1%). Logistic regression identified parental consanguinity and positive family history as significant risk factors for vitiligo, with adjusted odds ratios (aOR) of 2.39 and 2.92, respectively. Their synergistic effect notably amplified the risk (aOR = 7.58), indicating a complex genetic and familial influence on vitiligo in Saudi Arabia. Conclusions Consanguinity showed a significant association with vitiligo prevalence, highlighting genetic factors\' role. Further genetic research is needed to identify specific mutations in vitiligo among consanguineous populations. Genetic counseling and awareness programs are crucial in regions with high consanguinity rates to mitigate vitiligo and other genetic disorders\' risks.

Osteoarthritis (OA) is the most common form of arthritis with well recognized multifactorial nature. While several environmental factors such as older age, obesity and previous joint injury are strongly associated with its development, a genetic influence on OA has been recognized for over 80 years. Identification of genes associated with OA has received considerable attention over the last two decades, aided by the rapidly evolving genotyping and sequencing technologies. More than 300 genomic loci have been identified to be associated with OA at different joints. These findings are likely to help our better understanding of the pathogenesis of OA and lead to important therapeutic and diagnostic advances in this most common disabling rheumatic disorder. This article will review the data that support the role of genetic factors in common idiopathic OA.

OBJECTIVE: To investigate the family aggregation of human hookworm infections in Sichuan Province and to identify its influencing factors, so as to provide insights into management of hookworm infections.
METHODS: Three to four counties (districts) were sampled from basins, hilly regions and mountainous regions around the basins in Sichuan Province from 2017 to 2022 as fixed survey sites, and 17 to 30 counties (districts) were selected as mobile survey sites. At least 1 000 permanent residents at ages of 3 years and older were sampled from each survey site, and hookworm eggs were detected in human stool samples using the Kato-Katz technique. Subjects with 2 and more family members and at least 2 individuals diagnosed with hookworm infections in the county (district) where they lived were selected, and the familial aggregation of hookworm infections was analyzed using the test of goodness of fit for binomial distribution. In addition, the knowledge and practice of hookworm disease control were investigated among residents in Hejiang County and Wutongqiao District, Leshan City, Sichuan Province in 2021 and 2022, and the difference in the knowledge and practice of hookworm disease control was compared between members with and without familial aggregation of hookworm infections.
RESULTS: A total of 66 812 residents from 25 196 households were sampled from main endemic areas of hookworm diseases in Sichuan Province from 2017 to 2022 for detection of hookworm infections, and 4 403 infections were identified (6.59% prevalence). The distribution of human hookworm infections in Sichuan Province did not fit the binomial distribution, and showed family aggregations (χ2 = 2 116.759, P < 0.001). Family aggregation of human hookworm infections was found in endemic areas with 1% and higher prevalence of human hookworm infections (χ2 = 136.006 to 428.738, all P values < 0.001), and family aggregation of human hookworm infections was identified in different years (χ2 = 87.615 to 471.838, all P values < 0.001) and in different terrains of endemic areas (χ2 = 8.423 to 1 144.176, all P values < 0.001). The members with hookworm infections had median eggs per gram of 180 (interquartile range, 780) in aggregated families and 72 (102) in non-aggregated families (Z = -2.686, P < 0.05). The proportion of members in families with aggregation of hookworm infections who knew the preventive measures of hookworm disease was significantly lower than in non-aggregated families (24.49% vs. 51.72%; χ2 = 10.262, P < 0.05), and the proportion of members in families with aggregation of hookworm infections who often worked barefoot on the ground was significantly higher than in non-aggregated families (30.61% vs. 13.25%; χ2 = 6.289, P < 0.05).
CONCLUSIONS: There is a familial aggregation of human hookworm infections in Sichuan Province, and awareness of preventive measures for hookworm disease and frequent working barefoot on the ground are associated with familial aggregation of hookworm infections.
［摘要］ 目的 调查四川省人群钩虫感染家庭聚集性, 探讨其影响因素, 为科学防治钩虫病提供参考。方法 2017—2022年, 于四川省盆地、丘陵地区、盆周山区等钩虫病主要流行区选取3 ~ 4个县 (区) 作为人群钩虫感染固定调查点, 并 选取17 ~ 30个县 (市、区) 作为流动调查点。每个调查点抽取至少1 000名≥ 3周岁的常住居民作为调查对象, 采用Kato-Katz法进行粪便钩虫虫卵检测。选取家庭人口数≥ 2人、且所在县 (区) 当年钩虫感染人数≥ 2人的调查对象, 应用二项 分布拟合优度检验进行钩虫感染家庭聚集性分析。2021—2022年在四川省合江县和乐山市五通桥区开展人群钩虫病 防治知识与相关行为调查, 比较两地钩虫感染聚集性家庭与非聚集性家庭成员钩虫病防治知识与相关行为差异。结果 2017—2022年, 在四川省钩虫病主要流行区共抽取25 196户家庭的66 812名居民进行钩虫感染调查, 发现钩虫感染 4 403例, 感染率为6.59%。四川省主要流行区人群钩虫感染分布不符合二项分布, 具有家庭聚集性 (χ2 = 2 116.759, P < 0.001); 人群钩虫感染率≥ 1%的流行区均发现钩虫感染具有家庭聚集性 (χ2 = 136.006 ~ 428.738, P 均< 0.001); 不同年份 (χ2 = 87.615 ~ 471.838, P 均< 0.001) 、不同地形流行区 (χ2 = 8.423 ~ 1 144.176, P 均< 0.001) 人群钩虫感染均具有家庭聚 集性。钩虫感染聚集性家庭与非聚集性家庭中, 钩虫感染者每克粪便虫卵数 (egg per gram, EPG) 中位数 (四分位数间 距) 分别为180 (780) 和72 (102), 差异有统计学意义 (Z = -2.686, P < 0.05) 。钩虫感染聚集性家庭中知晓钩虫病防治知 识者所占比例低于非聚集性家庭 (24.49% vs. 51.72%; χ2 = 10.262, P < 0.05), 经常赤脚下地劳动者所占比例高于非聚集 性家庭 (30.61% vs. 13.25%; χ2 = 6.289, P < 0.05) 。结论 四川省人群钩虫感染具有家庭聚集性。钩虫病预防措施知晓 情况、是否经常赤脚下地劳动等因素与钩虫感染家庭聚集性相关。.

BACKGROUND: Evidence is emerging that melanoma has distinct aetiologic pathways and subtypes, characterized by factors like anatomic site of the tumour. To explore genetic influences on anatomic subtypes, we examined the extent to which melanomas in first-degree relatives shared the same body site of occurrence.
METHODS: Population-level linked data was used to identify the study population of over 1.5 million individuals born in Western Australia between 1945 and 2014, and their first-degree relatives. There were 1009 pairs of invasive tumours from 677 family pairs, each categorised by anatomic site. Greater than expected representation of site-concordant pairs would suggest the presence of genetic factors that predispose individuals to site-specific melanoma.
RESULTS: Comparing observed versus expected totals, we observed a modest increase in site concordance for invasive head/neck and truncal tumours (P=0.02). A corresponding analysis including in situ tumours showed a similar concordance (P=0.05). No further evidence of concordance was observed when stratified by sex.
CONCLUSIONS: In conclusion, modest evidence of aggregation was observed but with inconsistent patterns between sites. Results suggest that further investigation into the familial aggregation of melanoma by tumour site is warranted, with the inclusion of genetic data in order to disentangle the relative contributions of genetic and environmental factors.

OBJECTIVE: To assess the evidence supporting the heritability and genetic basis of sudden sensorineural hearing loss (SSNHL).
METHODS: Records were extracted from PubMed, Scopus, and Cochrane databases.
METHODS: The protocol was registered on PROSPERO (CRD42022357389) and includes a systematic review on the genetic contribution to SSNHL. The search strategy yielded 1.483 articles from electronic databases. After quality assessment, 34 records were selected, including 369.650 patients with SSNHL from nine prevalence studies, two familial aggregation studies, one twin study, and 22 genetic studies. The prevalence of SSNHL was calculated from data on its incidence from population-based studies (period prevalence). To evaluate the heritability of SSNHL, the sibling recurrence risk ratio (λs) was calculated, by comparing the prevalence of SSNHL among siblings within the same generation to the estimated prevalence in the overall population. Genetic variants were grouped, based on the pathological mechanism related to SSNHL.
RESULTS: The prevalence of SSNHL ranged from 0.1% to 0.0003% in America to 0.12%-0.0093% in Asia. The estimated sibling recurrence risk ratio for SSNHL (λs = 20.8-83.3) supports a significant familial aggregation. Although several genetic variants were reported to be associated with SSHL in controlled studies, neither was replicated in an independent cohort.
CONCLUSIONS: Evidence supporting heritability of SSNHL is limited to epidemiological studies showing prevalence differences across different populations and familial aggregation. Genetic studies are of low quality and they lack replication cohort to confirm their findings. According to its low prevalence, exome or genome sequencing familial-based studies are needed to identify rare genetic variants in SSNHL.
METHODS: NA Laryngoscope, 134:3447-3457, 2024.

UNASSIGNED: SAPHO (Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) syndrome is a heterogeneous disease that clinically manifests as chronic inflammatory osteoarticular and dermatological lesions. Few reports have described familial clustering of SAPHO syndrome cases. This research aimed to illustrate the family aggregation of SAPHO syndrome and investigate the prevalence of autoimmune disorders among SAPHO syndrome patients and first-degree relatives in a large cohort.
UNASSIGNED: We retrospectively reviewed the medical records of 233 SAPHO patients diagnosed at Peking Union Medical College Hospital. Direct phone calls were made to each first-degree relatives. All relatives of the patients who reported SAPHO syndrome were asked for a detailed outpatient evaluation.
UNASSIGNED: A total of 233 patients and 1227 first-degree relatives were recruited. Six (2.6 %) patients had positive SAPHO family history, including four mother-daughter pairs and two sister pairs. Twenty-one (9.0 %) patients presented at least one kind of autoimmune disease, including 12 rheumatoid arthritis and 4 ulcerative colitis cases. Fifty-eight (24.9 %) SAPHO syndrome patients had 68 (5.5 %) first-degree relatives with at least one autoimmune disorder. The palmoplantar pustulosis, psoriasis vulgaris, and rheumatoid arthritis prevalence in our subjects were each higher than reference rates.
UNASSIGNED: This is the first evaluation of familial aggregation for SAPHO syndrome in a large cohort. SAPHO syndrome has a weak familial aggregation. There is a relatively high prevalence of coexisting autoimmune disease among patients with SAPHO syndrome and their first-degree relatives. These results would prompt physicians to screen SAPHO syndrome patients and their family members for concomitant autoimmune diseases.
UNASSIGNED: This study suggesting a potential genetic component in the pathogenesis of SAPHO syndrome. This study is the first to evaluate the family aggregation of SAPHO syndrome in a large cohort.

Coronary artery ectasia (CAE) is a cause of juvenile myocardial infarction. The causes of CAE include arteriosclerosis, vasculitis such as Kawasaki disease, and genetic contribution. There are few reports about familial aggregation of CAE-related juvenile myocardial infarction. We report an unusual case of father-son juvenile myocardial infarction owing to CAE. (Level of Difficulty: Beginner.).

Juvenile Fibromyalgia (JFM) is poorly known, leading to delay in the identification of the syndrome. On the other hand, early diagnosis in children is important to prevent the worsening of the disease. This study aims to estimate the prevalence of JFM in an Italian population-based convenience sample, using different criteria (2010 and 2016 ACR, Yunus and Masi), by involving family pediatricians. It also aims to assess the relationships between JFM and contextual factors of the children and their parents, as well as to raise awareness of JFM among pediatricians. Children\'s data were collected using an ad hoc electronic questionnaire. Overall, 7275 questionnaires were collected (48.5% females; mean age: 8.2 ± 3.6 years). Thirty-eight children (0.5%) met the 2010 ACR criteria, and 4 (0.1%) met the 2016 ACR criteria. The likelihood of meeting the 2010 ACR criteria was significantly higher for children older than 8 years (OR: 2.42), those who had injuries during the leisure time that caused persistent pain (OR: 6.49), whose parents (at least one) had a diagnosis of fibromyalgia (OR: 2.54) or diffuse pain (OR: 9.09). In conclusion, 2010 ACR criteria are confirmed as the more appropriate for children and adolescents and the analysis of contextual factors suggests the need for family pediatricians to pay particular attention to the most important predictors of JFM.