• Title/Summary/Keyword: familial history

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Simple bone cysts of two brothers (형제에서 발견된 단순골낭)

  • An, Seo-Young;An, Chang-Hyeon;Choi, Karp-Shik
    • Imaging Science in Dentistry
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    • v.38 no.3
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    • pp.183-187
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    • 2008
  • 17-year-old and 14-year-old brothers were referred for evaluation of the cystic lesions on the mandibular anterior area with no symptoms. Neither their mother nor the brothers could recall any past trauma to those areas. Panoramic and intraoral radiographs revealed moderately defined cystic lesions on their mandibular anterior areas. Biopsies on both lesions revealed simple bone cysts. Hereditary cause or familial history of simple bone cysts could not be found in literature review. This case may have been a coincidence. However, further investigation is needed to find the cause of simple bone cysts occurring in patients those are closely related.

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Familial Hearine Loss (가족성 난청)

  • 전광수;장선문;박찬일
    • Proceedings of the KOR-BRONCHOESO Conference
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    • 1978.06a
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    • pp.7.2-7
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    • 1978
  • There are over 60 types of hereditary hearing loss in man and most of these are distinguished from one another by outstanding associated defects caused the same gene producing hearing loss. However, there are at least 12 types of hereditary hearing loss with no known associated defects. The authors experienced two similar families with hereditary hearing loss. The affected offsprings had inevitably an affected parent in type of transmissin (autosomal dominant) and the hearing loss developed in childhood and progressed. Audiologic findings showed bilateral symmetrical moderate to severe sensori-neural hearing loss with flattened configuration on the audiogram. Vestibular function tests showed no abnormal findings and the associated anomalies could'nt be observed in history or clinical examinations.

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Multiple Supra- and Infratentorial Hemangioblastomas : Case Report and Review of the Literature (천막상부 및 하부에 다발성으로 발생한 혈관모세포종 - 증례보고 -)

  • Kim, Cheol-Soo;Jung, Shin;Kang, Sam-Suk;Lee, Jung-Kil;Kim, Tae-Sun;Kim, Jae-Hyoo;Kim, Soo-Han;Lee, Je-Hyuk
    • Journal of Korean Neurosurgical Society
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    • v.30 no.2
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    • pp.217-220
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    • 2001
  • A rare case of multiple supratentorial and infratentorial hemangioblastomas in a 50-year old man is presented. There were neither manifestations of visceral tumors nor familial history. The two tumors were totally removed in two sessions and the diagnosis in both tumors were hemangioblastomas.

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Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy

  • Disha, Kushtrim;Schulz, Solveig;Breuer, Martin;Owais, Tamer;Girdauskas, Evaldas;Kuntze, Thomas
    • Journal of Chest Surgery
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    • v.52 no.5
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    • pp.376-379
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    • 2019
  • Concomitant Loeys-Dietz syndrome (LDS) and hematologic malignancies are exceptionally rare. This is the first report of a patient operated on for aortic root dilation who had been previously diagnosed with LDS and B-cell-lymphoma. After completion of chemotherapy and complete remission, an elective valve-sparing aortic root replacement (using the David-V method) was performed. Due to the positive family history, preoperative genetic counseling was conducted, and revealed LDS with a TGFBR1 (transforming growth factor beta receptor type I) mutation in 6 probands of the family, albeit in 1 of them posthumously. This missense mutation has been previously described in relation to aortic dissection, but a causative relationship to malignancy has so far neither been proposed nor proven.

A rare, likely pathogenic GCK variant related to maturity-onset diabetes of the young type 2: A case report

  • So, Min-Kyung;Huh, Jungwon;Kim, Hae Soon
    • Journal of Genetic Medicine
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    • v.18 no.2
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    • pp.132-136
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    • 2021
  • Maturity-onset diabetes of the young (MODY) is caused by autosomal dominant pathogenic variants in one of 14 currently known monogenic genes. Characteristics of patients with MODY include early-onset clinical disease with a family history of diabetes and negative autoantibodies and may present with heterogeneous phenotypes according to the different subtypes. Here, we report a patient with early-onset diabetes who presented asymptomatic mild fasting hyperglycemia with the absence of autoantibodies. She was diagnosed with glucokinase (GCK)-MODY caused by a GCK variant, c.1289T>C (p.L430P), identified by targeted gene-panel testing, and the affected father had the same variant. We interpreted this rare missense variant as a likely pathogenic variant and then she stopped taking oral medication. This case highlights the usefulness of gene-panel testing for accurate diagnosis and appropriate management of MODY. We also note the importance of familial genetic testing and genetic counseling for the proper interpretation of MODY variants.

Evaluation of Genetic Variations in miRNA-Binding Sites of BRCA1 and BRCA2 Genes as Risk Factors for the Development of Early-Onset and/or Familial Breast Cancer

  • Erturk, Elif;Cecener, Gulsah;Polatkan, Volkan;Gokgoz, Sehsuvar;Egeli, Unal;Tunca, Berrin;Tezcan, Gulcin;Demirdogen, Elif;Ak, Secil;Tasdelen, Ismet
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.19
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    • pp.8319-8324
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    • 2014
  • Although genetic markers identifying women at an increased risk of developing breast cancer exist, the majority of inherited risk factors remain elusive. Mutations in the BRCA1/BRCA2 gene confer a substantial increase in breast cancer risk, yet routine clinical genetic screening is limited to the coding regions and intronexon boundaries, precluding the identification of mutations in noncoding and untranslated regions. Because 3' untranslated region (3'UTR) polymorphisms disrupting microRNA (miRNA) binding can be functional and can act as genetic markers of cancer risk, we aimed to determine genetic variation in the 3'UTR of BRCA1/BRCA2 in familial and early-onset breast cancer patients with and without mutations in the coding regions of BRCA1/BRCA2 and to identify specific 3'UTR variants that may be risk factors for cancer development. The 3'UTRs of the BRCA1 and BRCA2 genes were screened by heteroduplex analysis and DNA sequencing in 100 patients from 46 BRCA1/2 families, 54 non-BRCA1/2 families, and 47 geographically matched controls. Two polymorphisms were identified. SNPs $c.^*1287C$ >T (rs12516) (BRCA1) and $c.^*105A$ >C (rs15869) (BRCA2) were identified in 27% and 24% of patients, respectively. These 2 variants were also identified in controls with no family history of cancer (23.4% and 23.4%, respectively). In comparison to variations in the 3'UTR region of the BRCA1/2 genes and the BRCA1/2 mutational status in patients, there was a statistically significant relationship between the BRCA1 gene polymorphism $c.^*1287C$ >T (rs12516) and BRCA1 mutations (p=0.035) by Fisher's Exact Test. SNP $c.^*1287C$ >T (rs12516) of the BRCA1 gene may have potential use as a genetic marker of an increased risk of developing breast cancer and likely represents a non-coding sequence variation in BRCA1 that impacts BRCA1 function and leads to increased early-onset and/or familial breast cancer risk in the Turkish population.

Epidemioclinical Feature of Early-Onset Colorectal Cancer at-Risk for Lynch Syndrome in Central Iran

  • Zeinalian, Mehrdad;Hashemzadeh-Chaleshtori, Morteza;Akbarpour, Mohammad Javad;Emami, Mohammad Hassan
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.11
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    • pp.4647-4652
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    • 2015
  • Background: Colorectal cancer (CRC) is becoming one of the most complicated challenges of human health, particularly in developing countries like Iran. In this paper, we try to characterize CRC cases diagnosed < age 50 at-risk for Lynch syndrome within central Iran. Materials and Methods: We designed a descriptive retrospective study to screen all registered CRC patients within 2000-2013 in Poursina Hakim Research Center (PHRC), a referral gastroenterology clinic in central Iran, based on being early-onset (age at diagnosis ${\leq}50years$) and Amsterdam II criteria. We calculated frequencies and percentages by SPSS 19 software to describe clinical and family history characteristics of patients with early-onset CRC. Results: Overall 1,659 CRC patients were included in our study of which 413 (24.9%) were ${\leq}50years$ at diagnosis. Of 219/413 successful calls 67 persons (30.6%) were reported deceased. Family history was positive for 72/219 probands (32.9%) and 53 families (24.2%) were identified as familial colorectal cancer (FCC), with a history of at-least three affected members with any type of cancer in the family, of which 85% fulfilled the Amsterdam II Criteria as hereditary non-polyposis colorectal cancer (HNPCC) families (45/219 or 20.5%). Finally, 14 families were excluded due to proband tumor tissues being unavailable or unwillingness for incorporation. The most common HNPCC-associated extracolonic-cancer among both males and females of the families was stomach, at respectively 31.8 and 32.7 percent. The most common tumor locations among the 31 probands were rectum (32.3%), sigmoid (29.0%), and ascending colon (12.9%). Conclusions: Given the high prevalence of FCC (~1/4 of early-onset Iranian CRC patients), it is necessary to establish a comprehensive cancer genetic counseling and systematic screening program for early detection and to improve cancer prognosis among high risk families.

Associations between Family Relationships and Quality of Kife in Patients with Schizophrenia (조현병 환자에서 가족관계와 삶의 질의 관계)

  • Kang, Hangoeunbi;Jung, Ha-Ran;Lee, Ju-Yeon;Kim, Seon-Young;Kim, Jae-Min;Yoon, Jin-Sang;Kim, Sung-Wan
    • Journal of the Korean society of biological therapies in psychiatry
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    • v.24 no.3
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    • pp.163-172
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    • 2018
  • Objectives : The aim of this study was to examine associations between quality of life in patients with schizophrenia and their family relationships. Methods : A total of 68 patients with schizophrenia participated in the study. Socio-demographic and clinical data were collected, as well as results from the Subjective Well-being under Neuroleptic Treatment Scale-Short Form(SWN-K), Family Emotional Involvement and Criticism Scale(FEICS), a visual analogue scale for evaluating the degree of perceived criticism(VAS), the Family Adaptability and Cohesion Evaluation Scale(FACES), Beck Cognitive Insight Scale(BCIS), and Rosenberg Self Esteem Scale(R-SES). Psychiatrists administered the Positive and Negative Syndrome Scale and the Calgary Depression Scale for Schizophrenia(CDSS), and collected a history of previous suicide attempts. Results : The SWN-K total scores showed significant negative correlations with scores on the FEICS perceived criticism, CDSS, and VAS measures and significant positive correlations with scores on the R-SES, FACES, and BCIS. Multiple regression analysis revealed that FEICS perceived criticism, FACES, and BCIS scores were significantly associated with SWN-K scores. The FACES total score was significantly lower in patients with a history of previous suicide attempt. Conclusion : The quality of life of patients with schizophrenia was negatively associated with greater perceived familial criticism and positively associated with better family cohesion and higher patient insight. In patients with a history of suicide attempts, family adaptability and cohesion were significantly low.

Gloria Naylor's Linden Hills: A Tragic Saga of the Oppressive "Primal Scene" and Deformed "Family Romance" (글로리아 네일러의 『린덴 힐즈』 -억압적 '원장면'과 왜곡된 '가족 로맨스'의 비극)

  • Hwangbo, Kyeong
    • Journal of English Language & Literature
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    • v.58 no.1
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    • pp.21-42
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    • 2012
  • Gloria Naylor's second novel Linden Hills (1985) explores the issues of self-exploration, empowerment, history, and memory by delineating the communal and familial tragedies and the distortion of values prevalent in a prosperous African-American urban community called Linden Hills. Drawing upon the Freud's concept of "primal scene" and "family romance," this paper aims to focus upon the Nedeed family, the founder of Linden Hills, and investigate the compelling traumatogenic force within the family, which is inseparably intertwined with the inversion of values and moral corruption permeating the entire community. The "primal crime" committed by the Nedeed ancestors serves to preserve and perpetuate a tyrannical rule by ruthless patriarchs who reign by underhanded strategies of purposefully neglecting and abusing others, including their own wives. The imprisonment, by Luther Nedeed, of his wife Willa in the family morgue epitomizes the long legacy running in the family-the oppression and burial of the pre-Oedipal, maternal history. Willa's accidental encounter, at the nadir of the family estate and her personal despair, with the faded records of the forgotten and abused Nedeed women exposes the violence-ridden ground of the family's primal scene and the absurdity of family romance the Nedeeds pursued. As the several lines of poem composed by Willie, Willa's male double, show, the hidden, forgotten history of the Nedeed women, in a sense, is the real, which cannot be assimilated to the social symbolic governed by the inhumane patriarchy of the Nedeed family and the success-oriented Linden Hills society. By portraying a catastrophic downfall of the Nedeed family and the futile outcome of its family romance, the ending of Linden Hills conveys implicitly that the contingent symbolic order and its oppressive control, however solid and invincible they may seem, can be toppled down by the real, its nameless forgotten Other.

Selective Contralateral Exploration in Pediatric Inguinal Hernia (소아서혜부탈장의 선택적 편대측 시험절개)

  • Lee, Myung-Duk
    • Advances in pediatric surgery
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    • v.1 no.1
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    • pp.18-26
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    • 1995
  • For the prevention of later contralateral hernia as well as unnecessary contralateral exploration in pediatric patients with unilateral inguinal hernias, a reasonable indication of contralateral exploration is required. To examine the contralateral positivity, a prospective selective contralateral exploration has been performed by the author from Sept. 1985 to Dec. 1993, at Pediatric Surgical Section of the Department of Surgery, Kangnam St. Mary's Hospital, Catholic University Medical College. Among the total 1200 cases of pediatric inguinal hernias, 580 cases of contralateral side were explored at hernia operations, by the indications as; male with infant onset, 2)female of all age, 3)prematurity, 4)profuse ascites due to cirrhosis, nephrotic syndrome, and ventriculoperitoneal shunt, and 5)remarkable silk sign. Overall positive rate was 71.4%, and positive rates of each indication were 80.7%, 70.4%, 73.1%, 66.7%, and 72.0%, respectively. Right side hernia showed 67.0%, left s ide 75.7%, and positive familial history 71.8% of contralateral positivities. In male, getting older revealed lower positive rates and the rate suddenly dropped after 12 years of age. Birth order, mother's age at delivery, postmaturity did not show any significant differences between the rates. Recurrence was seen in 3(0.5%) ipsilateral and 2(0.3%) contralateral, both of which were negative esplorations on previons operations. Overall complication rate was 3.8%, including 1 infection, 14 fluid or blood accumulation, 5 edemas, 3 temporary testicular edemas, 2 persisting fevers, 2 enures is and one delayed recovery from anesthesia. Among 38 cases with contralateral hernias developed after unilateral surgery by authors(6 cases) or surgeons in other institutions, 14 were males with infant onset, 4 were prematurities and 9 were females. Therefore, 27(71.7%) cases were originally under the contralateral exploration indications. The primary site of the hermia was right in 25 and left in 13. With above results, the following indications for contralateral exploration could be suggested ; 1)under one year of age, both sex, 2)prematurity, 3) remarkable silk sign, 4)in the double checked suspicions among males with infant onset, all age females, ascites, left hernia and familial history. After 12 years of age, exploration is not required. Considering complications, contralateral explorations could be considered only in the following situations; 1)expert, experienced pediatric surgeon, 2)experienced pediatric anesthesiologist, 3)operations could be done smoothly in an hour, 4)good general condition of the patient.

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