Frontal Fibrosing Alopecia: Is There a Link in Relatives?

Frontal fibrosing alopecia (FFA) is an acquired primary lymphocytic cicatricial alopecia characterized by frontotemporal hairline recession, leading to scarring alopecia with a band-like distribution. Prevalence is increasing worldwide, being the most frequent cause of primary scarring alopecia. The natural history of this condition is variable; however, slow progression with spontaneous remission is the most frequent reported outcome. The etiopathogenesis of FFA remains to be elucidated; numerous hypotheses concerning hormonal effects, environmental factors, and genetic predisposition have been proposed. Special interest on genetic basis has emerged since the first familial case was reported. Only a few more familial cases have been published. We report 6 additional cases of female patients with familial FFA (F-FFA) from 3 different families. Sixty-six percent had a family history of autoimmune disease in first-degree relatives; these same patients had a personal history of autoimmune disease. The families described in this cohort study plus the personal and family history of autoimmune disease, as well as the recently described involved genomic loci; reinforced the hypothesis of this disease being genetic. It is important to consider studying this entity since there are scarce data regarding familial cases and this might give us a better insight toward understanding its pathogenesis.

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Personal and family history of immune-related conditions increase the risk of plasma cell disorders: a population-based study

Blood ◽

10.1182/blood-2011-04-347559 ◽

2011 ◽

Vol 118 (24) ◽

pp. 6284-6291 ◽

Cited By ~ 45

Author(s):

Ebba K. Lindqvist ◽

Lynn R. Goldin ◽

Ola Landgren ◽

Cecilie Blimark ◽

Ulf-Henrik Mellqvist ◽

...

Keyword(s):

Family History ◽

Autoimmune Disease ◽

Large Population ◽

Population Based ◽

Personal History ◽

Population Based Study ◽

Inflammatory Conditions ◽

Increased Risk ◽

Plasma Cell Disorders ◽

History Of

Abstract The associations between immune-related conditions and multiple myeloma (MM) and monoclonal gammopathy of undetermined significance (MGUS) have previously been investigated with inconsistent results. In a large population-based study, we identified 19 112 patients with MM, 5403 patients with MGUS, 96 617 matched control subjects, and 262 931 first-degree relatives. We calculated odds ratios (ORs) and 95% confidence intervals (CIs) for the association of MM and MGUS with immune-related conditions by use of logistic regression. A personal history of all infections combined was associated with a significantly increased risk of MM (OR = 1.2; 95% CI, 1.1-1.3), and a personal history of all conditions in the categories infections (OR = 1.6; 95% CI, 1.5-1.7), inflammatory conditions (OR = 1.4; 95% CI, 1.2-1.5), and autoimmune diseases (OR = 2.1; 95% CI, 1.9-2.4) was associated with a significantly increased risk of MGUS. Several specific immune-related conditions elevated the risk of MM and/or MGUS. A family history of autoimmune disease was associated with a significantly increased risk of MGUS (OR = 1.1; 95% CI, 1.00-1.2), but not MM. Our findings suggest that immune-related conditions and/or their treatment are of importance in the etiology of MGUS and possibly MM. The association of both personal and family history of autoimmune disease with MGUS indicates the potential for shared susceptibility for these conditions.

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The Neuropathic Diathesis, or the Diathesis of the Degenerate

Journal of Mental Science ◽

10.1192/s0368315x00227898 ◽

1888 ◽

Vol 34 (146) ◽

pp. 167-176

Author(s):

G. T. Revington

Keyword(s):

Family History ◽

Normal Development ◽

Personal History ◽

Striking Feature ◽

General Paralysis ◽

History Of ◽

The Creation ◽

The Individual ◽

The Mind

I think that the foregoing statistics, and those which follow, together with the large number of cases which I quote, and which connect general paralysis with almost every form of neurotic manifestation, will prove conclusively that neurotic inheritance is a striking feature in the causation of general paralysis. I question whether a distinction between “the cerebral and the insane element” in general paralysis can be maintained. If general paralysis is not a degeneration of the mind-tissue, then the pathology of insanity has no existence, and I would say that the subtle influence for evil, which is transmitted from parents, whose brains are deteriorated by neurotic outbursts, or soaked in alcohol, or wrecked by physiological immorality, tends strongly towards such degeneration. If insanity is, as Dr. Savage says, a perversion of the ego, then a general paralytic is the in-sanest of the insane. We know that the children of a melancholic parent, for example, may develop any form of neurosis—in other words, it is not that melancholia or general paralysis, or any other definite disease, is transmitted, but that a certain tendency to deviate from normal development is transmitted. This tendency to deviate is the neurotic diathesis, and the form of its development is determined by collateral circumstances, and a certain series of collateral circumstances determine the development of general paralysis. Perhaps neurotic inheritance may mean in some cases a limited capital of nervous energy, and if this is wasted recklessly the individual breaks down suddenly and pathologically, as we all do slowly and physiologically. I would also point out that considering the number of histories of insanity which owing to ignorance or reticence we, do not receive, and considering that we never receive information as to the existence of the slighter neuroses, it is marvellous that we get so high a percentage as 51. Of the 145 general paralytics with a reliable history, 38 had a family history of insanity, 28 a family history of drink, 8 of both, 43 had a personal history of drink, 8 of a previous attack too remote to be considered, at least, according to our present ideas, as part of the disease, and the vast majority had a history of some physiological irregularity which must be considered as conducive to the creation of an acquired neurosis. We may now pass to some further statistics.

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A Practical Approach to Pediatric Patients Referred With an Abnormal Coagulation Profile

Archives of Pathology & Laboratory Medicine ◽

10.5858/2005-129-1011-apatpp ◽

2005 ◽

Vol 129 (8) ◽

pp. 1011-1016 ◽

Cited By ~ 1

Author(s):

Monica Acosta ◽

Rachel Edwards ◽

E. Ian Jaffe ◽

Donald L. Yee ◽

Donald H. Mahoney ◽

...

Keyword(s):

Family History ◽

Positive Family History ◽

Laboratory Data ◽

Bleeding Risk ◽

Personal History ◽

Retrospective Case ◽

Laboratory Assessment ◽

Repeat Testing ◽

Effective Manner ◽

History Of

Abstract Context.—Workup for prolonged prothrombin time (PT) and activated partial thromboplastin time (PTT) is a frequent referral to a Hematology and Coagulation Laboratory. Although the workup should be performed in a timely and cost-effective manner, the complete laboratory assessment of the coagulation state has not been standardized. Objective.—To determine which clinical and laboratory data are most predictive of a coagulopathy and to formulate the most efficient strategy to reach a diagnosis in patients referred for abnormal coagulation profiles. Design.—Retrospective case review. Medical records of 251 patients referred for prolonged PT and/or PTT to our Hematology Service between June 1995 and December 2002 were reviewed. Results.—The study included 135 males and 116 females with a mean age of 7.0 years. A personal history of bleeding was reported in 137 patients, and a family history of bleeding was reported in 116 patients. Fifty-one patients (20%) had a coagulopathy (ie, a bleeding risk). Factors predictive of a bleeding risk were a positive family history of bleeding (P < .001) and a positive personal history of bleeding (P = .001). Of 170 patients with findings of normal PT and PTT values on repeat testing, 14 were subsequently diagnosed with a coagulopathy. Two of these patients reported no positive personal or family history of bleeding. Conclusions.—Coagulopathy was identified in 20% of the children referred for abnormal PT and/or PTT. In the absence of a personal or family history of bleeding, a normal PT and/or PTT on repeat testing has a negative predictive value of more than 95%.

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BRCA mutations and their clinical relevance in unselected pancreatic cancer population.

Journal of Clinical Oncology ◽

10.1200/jco.2021.39.15_suppl.e16240 ◽

2021 ◽

Vol 39 (15_suppl) ◽

pp. e16240-e16240

Author(s):

Viola Barucca ◽

Andrea Petricca Mancuso ◽

Salvatore De Marco ◽

Daniela Iacono ◽

Carmelilia De Bernardo ◽

...

Keyword(s):

Pancreatic Cancer ◽

Family History ◽

Disease Progression ◽

Personal History ◽

First Line ◽

Brca Mutations ◽

Cancer Family ◽

Cancer Family History ◽

Brca 2 ◽

History Of

e16240 Background: Germline pathogenetic mutations in BRCA1/2 genes are described in pancreatic cancer patients (PCP) in about 5–9% of cases. The purpose of this study was to determine their relevance in an unselected consecutive cohort of PCP describing family and clinical history. Methods: Patients (pts) were recruited at a single cancer center from September 2019 to October 2020. Participants provided blood for DNA analysis; cancer family history and treatment records were reviewed; DNA was analyzed by Next Generation Sequencing and multiplex ligation-dependent probe amplification for germline variants in BRCA1/2 Results: 69 pts were included, 61 (88,4%) with locally advanced and metastatic pancreatic cancer received first line chemotherapy and 38 (62%) were full eligible for BRCA analysis; 8 out of 69 pts were BRCA screened even if in adjuvant setting, 10 patients are still under evaluation. Out of the 38 first line screened PCP germline BRCA mutations were found in 9 (19%): 4 pts (8,7%) with pathogenetic BRCA-2 variants (subgroup 1 – S1) and 5 pts (10,8%) with variants of unknown significances (VUSs), i.e. c.5339T>C and c.5096G>A in BRCA1 (subgroup 2 – S2). Samples from 29 pts were established as BRCA wild-type (subgroup 3 – S3). Pathogenetic BRCA-2 variants were observed in 2 male and 2 female (median age, 61.5 years, range 48-69), 3 out 4 without family history of breast, ovarian and pancreatic cancer, one patient (pt) had ovarian cancer family history. All pts had a negative personal history of others cancers. All S1 pts received FOLFIRINOX regimen achieving one complete response, 2 partials responses and 1 disease progression with RECIST criteria. The S2 included 2 male and 3 female (median age, 61 years, range 45-70) 2 with family history of pancreatic cancer, no pt had personal history of others cancers; 2 pts had stable disease and 3 disease progression receiving platinum-based regimen (4 pts) and gemcitabine/nabpaclitaxel (1 pt), respectively. Platinum responders were observed only in the well known pathogenetic BRCA-2 variants group with twice a median progression-free survival (PFS, months -ms-) as compared to the one observed in VUSs group. (>6 C.I. 95% 2- >12 ms; vs 3 ms, 95% C.I. 3-12 ms). S3 included 9 male and 20 female, (median age, 66 years, range 42-78); 5 pts had family history of pancreatic or breast cancer, 5 pts had a personal history of other cancers (breast and thyroid). In this group,16 pts received a platinum based regimen and 12 pts have been treated without platinum based regimen. Conclusions: Our results suggest that: 1) BRCA pathogenetic mutations rate (8,7%) is in line with literature data and seems not to be related with family or personal history, and to be associated with a better outcome; 2) No BRCA mutations were detected in patients over 70 years. 3) VUSs subgroup do not seem to benefit from platinum-regimen.

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Is Migraine Associated with Right-to-Left Shunt a Separate Disease? Results of the SAM Study

Cephalalgia ◽

10.1111/j.1468-2982.2008.01539.x ◽

2008 ◽

Vol 28 (4) ◽

pp. 360-366 ◽

Cited By ~ 24

Author(s):

GP Anzola ◽

G Meneghetti ◽

C Zanferrari ◽

A Adami ◽

L Dinia ◽

...

Keyword(s):

Family History ◽

Observational Study ◽

Transcranial Doppler ◽

Patent Foramen Ovale ◽

Genetic Linkage ◽

Personal History ◽

Coagulation Disorders ◽

Foramen Ovale ◽

History Of ◽

Pfo Closure

Migraine with aura (MA) is associated with the persistence of patent foramen ovale (PFO) in about 50% of cases, and migraineurs tend to have larger shunts than controls, suggesting that right-to-left shunt (RILES) determined by PFO could play a role in triggering migraine attacks. Moreover, some preliminary reports have suggested that PFO closure may give relief to both migraine and aura attacks. The aim of this study was to clarify if shunt-associated migraine (SAM) has clinical features that allow a distinction from shunt-unrelated migraine (SUM), in a prospective, multicentre, observational study (SAM study). We enrolled consecutive MA patients, who underwent a structured, standardized questionnaire for family and personal history and for detailed migraine features. All were systematically screened for RILES with transcranial Doppler, and for coagulation disorders. Overall, 460 patients were included; the SUM and SAM classes comprised 58% and 42% of patients, respectively. SAM patients were significantly younger (34.1 ± 10 vs. 37.1 ± 11 years), had a more frequent family history of migraine (76% vs. 66%) and a higher frequency of sensory symptoms of aura (51% vs. 41%); by contrast, there was a lesser association of SAM with other cardiac abnormalities and with coagulation disorders. The SAM study suggests that the effect of RILES on migraine features is not relevant. The higher family history of migraine in SAM suggests a possible genetic linkage between migraine and RILES.

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Family history of cancer, personal history of medical conditions and risk of oral cavity cancer in France: the ICARE study

BMC Cancer ◽

10.1186/1471-2407-13-560 ◽

2013 ◽

Vol 13 (1) ◽

Cited By ~ 11

Author(s):

Loredana Radoï ◽

Sophie Paget-Bailly ◽

Florence Guida ◽

Diane Cyr ◽

Gwenn Menvielle ◽

...

Keyword(s):

Family History ◽

Oral Cavity ◽

Oral Cavity Cancer ◽

Personal History ◽

Medical Conditions ◽

Family History Of Cancer ◽

History Of ◽

History Of Cancer

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Family history of systemic lupus erythematosus and risk of autoimmune disease: Nationwide Cohort Study in Denmark 1977–2013

Rheumatology ◽

10.1093/rheumatology/kex005 ◽

2017 ◽

Vol 56 (6) ◽

pp. 957-964 ◽

Cited By ~ 11

Author(s):

Constance Jensina Ulff-Møller ◽

Jacob Simonsen ◽

Kirsten Ohm Kyvik ◽

Søren Jacobsen ◽

Morten Frisch

Keyword(s):

Systemic Lupus Erythematosus ◽

Cohort Study ◽

Family History ◽

Autoimmune Disease ◽

Lupus Erythematosus ◽

Systemic Lupus ◽

History Of

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Clinical and Economic Impact of Pre-Operative Coagulation Screening in Children

Blood ◽

10.1182/blood.v120.21.3379.3379 ◽

2012 ◽

Vol 120 (21) ◽

pp. 3379-3379

Author(s):

Trishala Agrawal ◽

Louisa Mazza-Hilway ◽

Alice J. Cohen ◽

Sari H Jacoby

Keyword(s):

Family History ◽

Major Bleeding ◽

Conflicts Of Interest ◽

Personal History ◽

Screening Tests ◽

Factor Vii ◽

Factor Xii ◽

Coagulation Tests ◽

History Of ◽

The Mean

Abstract Abstract 3379 Background: The literature in the past has recommended pre-operative (PRE-O) coagulation screening only when indicated by history or physical exam. Despite these recommendations, surgeons continue to order PT and PTT prior to surgery, especially in children, because they have often not been hemostatically challenged. We evaluated the usefulness of screening tests in identifying significant bleeding risk and associated cost. Methods: We performed a retrospective audit on children referred to the hemophilia center sent for further evaluation of abnormal PT and PTT on PRE-O screening. We reviewed 62 patients who had 80 procedures, out of which 70 procedures were evaluable with complete data. Age, personal and family history of bleeding, coagulation tests, PRE-O and post-operative (PO) treatment, and immediate PO bleeding were assessed. Results: The most common procedure that led to PRE-O screening was tonsillectomy/adenoidectomy at 61% (49/80). Other procedures included orthopedic, GI, oral, dental extractions, and myringotomies. Only 2.5% (2/80) were cardiac procedures. The mean patient age was 6 years (range 1–16). 55% (34/62) had no personal or family history of bleeding. 22.5% (14/62) had a family history of mild bleeding such as epistaxis or menorrhagia. 8% (5/62) had a family history of major bleeding disorders such as Von Willebrand disease (VWD) or hemophilia. 14.5% (9/62) had a personal history of bleeding, mild or major. The most common abnormal screening test was the PT at 40% (25/62). 27% (17/62) had an abnormal PTT (3.2% \batchmode \documentclass[fleqn,10pt,legalpaper]{article} \usepackage{amssymb} \usepackage{amsfonts} \usepackage{amsmath} \pagestyle{empty} \begin{document} $262$ \end{document} with a significantly abnormal PTT above 50). 22.5% (14/62) were referred for abnormal PT/PTT. 8% (5/62) with an abnormal PT and/or PTT corrected on repeat studies. The remaining 9.6% (6/62) were referred for other reasons such as positive family or personal history and a high risk procedure. Additional coagulation tests ordered because of prolonged PT or PTT varied and included additional factor assays (Table 1). The mean cost of additional testing was >$1000. Factor VII was the most common factor deficiency identified with a mean activity of 47% (27–54%) (normal 55–163%) followed by factor XII deficiency with a mean activity of 39% ( 19–49%) (normal 46–168%). PRE-O, 5 patients received support with either Humate P, Stimate, Amicar, or DDAVP, 4 with a diagnosis of VWD and 1 with Jacobsen Syndrome; 3 of these patients received PO Amicar. PO, 69/70 procedures were completed with minimal (2–45 mL) bleeding. Only 1/70 procedures had significant PO bleeding, despite normal tests. This patient did not have any significant immediate PO bleeding, but had delayed bleeding reported at day 7 requiring cauterization. No other cases of delayed PO bleeding were reported to our clinic. Conclusion: In patients who undergo routine screening by laboratory testing only, the most common abnormality found was a prolonged PT. Subsequent workup of patients with abnormal screening tests identified factor VII or factor XII deficiencies most frequently. Only one patient with abnormal PT/PTT was diagnosed with a significant bleeding disorder, VWD. Major bleeding occurred rarely. This study demonstrates that the cost of extensive PRE-O coagulation testing is high with minimal clinical impact. Disclosures: No relevant conflicts of interest to declare.

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Making Space

Camera Obscura Feminism Culture and Media Studies ◽

10.1215/02705346-8631595 ◽

2020 ◽

Vol 35 (3) ◽

pp. 132-141

Author(s):

Jasmine Nichole Cobb

Keyword(s):

Nineteenth Century ◽

Family History ◽

Black Culture ◽

Personal History ◽

Cultural Institutions ◽

Cultural Contexts ◽

Black Artists ◽

Look Back ◽

Iconic Images ◽

History Of

In this interview, artist and scholar Deborah Willis describes the work of excavating and organizing the history of Black photography. Willis’s groundbreaking scholarship helped to formally establish an archive of Black visual practice before libraries and cultural institutions began to purposely catalogue such materials. Across projects, she has engaged questions of beauty, citizenship, Black culture, and family history from the nineteenth century to the present by closely examining the camera practices of legendary photographers and the cultural contexts surrounding iconic images. In this interview, Willis describes her research as a student relying on periodical records as well as on the support of Black artists such as Roy DeCarava, Carrie Mae Weems, Gordon Parks, and James VanDerZee. This conversation with the author intertwines Willis’s personal history and the history of creating a visual archive to offer a look back and a look forward at the practice of Black photography.

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Hyperthyroidism following primary hypothyroidism in association with polyendocrine autoimmunity

Acta Endocrinologica ◽

10.1530/acta.0.1080491 ◽

1985 ◽

Vol 108 (4) ◽

pp. 491-497 ◽

Cited By ~ 18

Author(s):

P. M. Bell ◽

D. G. Sinnamon ◽

P. P. A. Smyth ◽

H. A. Drexhage ◽

M. Haire ◽

...

Keyword(s):

Diabetes Mellitus ◽

Family History ◽

Autoimmune Disease ◽

Islet Cell ◽

Primary Hypothyroidism ◽

Strong Family History ◽

Thyroglobulin Antibodies ◽

Thyroid Stimulating Immunoglobulins ◽

History Of ◽

Islet Cell Autoantibodies

Abstract. A 37 year old male with a strong family history of autoimmune disease presented with typical symptoms of hyperthyroidism. He had exophthalmos but no goitre. Hyperthyroidism was confirmed by failure of 131I neck uptake to suppress after 7 days treatment with triiodothyronine. Six years previously a diagnosis of primary hypothyroidism has been made. At diagnosis of hyperthyroidism, thyroglobulin antibodies, thyroidal microsomal antibodies and thyroid stimulating immunoglobulins were detected. The absence of thyroid growth stimulating immunoglobulins and presence of immunoglobulins blockink TSH-induced growth may account for the absence of goitre throughout. HLA -B8, -B, -DR3 and -DR4 genotypes, low C4 complement cocentrations and islet cell autoantibodies were detected at the time of diagnosis and 1 year later diabetes mellitus developed.

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