Is the family history positive for SLE a predisposing factor for anti-TNFalpha blockers induced lupus? A case report

2010 ◽  
Vol 77 (5) ◽  
pp. 484-485 ◽  
Author(s):  
Paola Caramaschi ◽  
Viviana Ravagnani ◽  
Lisa Maria Bambara ◽  
Domenico Biasi
Keyword(s):  
Case Report ◽  
Family History ◽  
Predisposing Factor ◽  
The Family

Congenital cholesteatoma in siblings

2013 ◽  
Vol 127 (11) ◽  
pp. 1143-1144 ◽  
Author(s):  
L D Landegger ◽  
M S Cohen
Keyword(s):  
Computed Tomography ◽  
Case Report ◽  
Family History ◽  
Physical Examination ◽  
Age At Onset ◽  
Family Members ◽  
Initial Presentation ◽  
Congenital Cholesteatoma ◽  
The Family ◽  
Hereditary Factors

AbstractIntroduction:The exact aetiology of congenital cholesteatoma, the less common form of this destructive disease, is still under debate.Case report:A two-year-old boy was referred to paediatric otolaryngology with persistent, bloody, left-sided otorrhoea refractory to oral and ototopical antibiotics. Prior to its onset at age 16 months, all ear examinations on the affected side were normal. Physical examination, imaging with computed tomography and eventual tympanomastoidectomy revealed extensive cholesteatoma. The extent of the disease, age at onset of symptoms and absence of otological disease before initial presentation suggested the diagnosis of congenital cholesteatoma. Review of the family history revealed that the patient's older brother had undergone tympanomastoidectomy for a small, well-encapsulated, mesotympanic congenital cholesteatoma at two years of age.Discussion:This case joins a single, previous report describing congenital cholesteatoma in multiple family members, suggesting that in some cases, hereditary factors may play a role in the formation of the disease.

scholarly journals Gilles de la Tourette Syndrome—A Case Report from Guyana in South America

1992 ◽  
Vol 5 (1) ◽  
pp. 39-41 ◽  
Author(s):  
V. Eapen ◽  
M. M. Robertson
Keyword(s):  
Case Report ◽  
Family History ◽  
South America ◽  
Tourette Syndrome ◽  
Attention Deficit Disorder ◽  
Positive Family History ◽  
Cross Cultural ◽  
Biological Factors ◽  
The Family ◽  
Cultural Similarity

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.

scholarly journals Hereditary angioedema: the challenges of cross-border family investigation and treatment

2020 ◽  
Vol 13 (4) ◽  
pp. e231906
Author(s):  
Anna Trier Heiberg Brix ◽  
Trine Mehlbye Svensson ◽  
Malin Sandberg ◽  
Anette Bygum
Keyword(s):  
Case Report ◽  
Family History ◽  
Hereditary Angioedema ◽  
Genetic Disorder ◽  
Upper Airway ◽  
Index Patient ◽  
Cross Border ◽  
The Family ◽  
Life Threatening ◽  
Family Investigation

Hereditary angioedema (HAE) is a rare genetic disorder characterised by recurrent swellings involving subcutaneous and submucosal tissue that can be potentially life threatening in cases involving the upper airway. In this case report, we present a Syrian refugee family with HAE who have lived in Denmark since 2014. The index patient is an 8-year-old girl diagnosed with HAE after being hospitalised in Denmark with an angioedema attack. Her younger sister and father were diagnosed later, following investigation of the family. Exploring the family history, deaths due to suffocation were described in previous generations and other family members based in Sweden, Germany, Turkey, Saudi Arabia, USA and Syria could also potentially be affected. This highlights the need for a cross-border effort to diagnose and treat this inherited disorder.

Gilles De La Tourette Syndrome and Epilepsy: A Case Report

2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1
Author(s):  
C. Silva ◽  
C. Nunes
Keyword(s):  
Case Report ◽  
Family History ◽  
Tourette Syndrome ◽  
Temporal Region ◽  
Obsessive Compulsive ◽  
Paroxysmal Activity ◽  
Obsessive Compulsive Symptoms ◽  
Temporal Epilepsy ◽  
The Family ◽  
Dsm Iv

Introduction:The association between tics, epilepsy and obsessive-compulsive symptoms, is still little explored in literature.Case report:The authors describe case of a male patient, 25 years old, with some obsessive personality traits and with the appearance of simple multiple tics, at 7-8 years old. The tics were vocal and motor, particularly facial and worsen with anxiety. Of the personal history is highlighted the existence of repetitive tonsilitis and in the family history the presence of tics in 3 paternal first cousins. This patient started only consultation of Neurology in 2003 and was medicated with haloperidol 1 mg / day. Already in 2007 it was triggered absence crisis, so that after additional study (EEG and MRI) and detection of focal paroxysmal activity in the left fronto-temporal region, the patient was medicated with levetiracetam 1000 mg / day. Currently holds the following therapy: levetiracetam 1500 mg / day, clonidine 0225 mg / day and buspirone 30 mg / day, with clinical improvement occurred.Conclusions:This patient on one hand, presents DSM-IV-TR (2001) diagnostic criteria for Gilles de la Tourette syndrome and on the other hand, criteria for the diagnosis of fronto-temporal epilepsy. It is also relevant the patient"s family history, that is consistent with the high risk of Tourette Syndrome in the first degree relatives.

Coincidence of Familial Hemiplegic Migraine and Hemicrania Continua? A Case Report

Cephalalgia ◽  
1999 ◽  
Vol 19 (5) ◽  
pp. 533-535 ◽  
Author(s):  
S Evers ◽  
A Bahra ◽  
PJ Goadsby
Keyword(s):  
Case Report ◽  
Family History ◽  
Familial Hemiplegic Migraine ◽  
Hemicrania Continua ◽  
Hemiplegic Migraine ◽  
The Family ◽  
Different Types ◽  
History Of

A case is presented of a 39-year-old woman with a history of simultaneous Familial hemiplegic migraine (FHM) and hemicrania continua (HC). The family history of the patient revealed different types of migraine and cyclic syndromes in childhood in four generations. The possible links between FHM and HC are discussed. The pedigree gives further evidence that cyclic syndromes in childhood belong to the spectrum of migraine.

Antithrombin III Alger: A New Homozygous AT III Variant

1986 ◽  
Vol 55 (02) ◽  
pp. 218-221 ◽  
Author(s):  
A M Fischer ◽  
P Cornu ◽  
C Sternberg ◽  
F Mériane ◽  
M D Dautzenberg ◽  
...  
Keyword(s):  
Family History ◽  
Antithrombin Iii ◽  
Antigen Concentration ◽  
Crossed Immunoelectrophoresis ◽  
The Family ◽  
At Iii ◽  
Molecular Abnormality ◽  
Slow Moving ◽  
Cofactor Activity ◽  
Plasma Heparin

SummaryA qualitative abnormality of antithrombin III (AT III) was found in the plasma of a 41-year old patient. The plasmatic AT III antigen concentration was 130% and the progressive anti-F IIa and anti-F Xa activities were normal (105% and 137%). The plasma heparin cofactor activity was less than 10%, when measured by F Ila or F Xa inhibition. Crossed immunoelectrophoresis of AT III in the presence of heparin revealed in the plasma an abnormal slow-moving peak. When tested by affinity chromatography on heparin Sepharose, this abnormal AT III did not bind to heparin. Among the investigated relatives, 5 subjects had normal AT III levels, whatever the test used, the nine others having reduced levels of antithrombin heparin cofactor activity (45-61%) but normal levels of immunoreactive AT III (97-122%). Consanguinity was found in the family history. We therefore considered our patient as homozygous for an AT III molecular abnormality affecting the binding site for heparin.

The Dupont family: collectors, dealers and naturalists in nineteenth-century Paris

2016 ◽  
Vol 43 (2) ◽  
pp. 191-207 ◽  
Author(s):  
Richard Mearns ◽  
Laurent Chevrier ◽  
Christophe Gouraud
Keyword(s):  
Nineteenth Century ◽  
Family History ◽  
Natural History ◽  
North Africa ◽  
Special Interest ◽  
Early Life ◽  
Anatomical Models ◽  
The Family ◽  
Small Collection

In the early part of the nineteenth century the Dupont brothers ran separate natural history businesses in Paris. Relatively little is known about their early life but an investigation into the family history at Bayeux corrects Léonard Dupont's year of birth from 1795 to 1796. In 1818 Léonard joined Joseph Ritchie's expedition to North Africa to assist in collecting and preparing the discoveries but he did not get beyond Tripoli. After 15 months he came back to Paris with a small collection from Libya and Provence, and returned to Provence in 1821. While operating as a dealer-naturalist in Paris he published Traité de taxidermie (1823, 1827), developed a special interest in foreign birds and became well known for his anatomical models in coloured wax. Henry Dupont sold a range of natural history material and with his particular passion for beetles formed one of the finest collections in Europe; his best known publication is Monographie des Trachydérides (1836–1840). Because the brothers had overlapping interests and were rarely referred to by their forenames there has been confusion between them and the various eponyms that commemorate them. Although probably true, it would be an over-simplification to state that birds of this era named for Dupont refer to Léonard Dupont, insects to Henry Dupont, and molluscs to their mother.

The Effectiveness of Behaviour Therapy in Writer’s Cramp: A Case Report

2016 ◽  
Vol 3 (2) ◽  
Author(s):  
Mahesh M M ◽  
Dr. Johnson Alex
Keyword(s):  
Mental Illness ◽  
Case Report ◽  
Family History ◽  
Male Patient ◽  
Motor Nerve ◽  
Conclusive Evidence ◽  
Behaviour Therapy ◽  
Present Treatment ◽  
Writer’S Cramp ◽  
Writer's Cramp

42 years old male patient referred from neurology department, working as a teacher, educated up to MSc, premorbidly anxious personality, family history mental illness (first degree relatives), comes from MSES with presenting complaints of difficulty in writing or copying since seven years. Disability progressed and he was unable to write even a few words legibly and could not hold object which leads to anxiety and dependency. When the patient was examined at Neurology OPD, find out that he has normal sensory and motor nerve functions. The present treatment involved the use of Bahaviour therapy. The findings in this case is very encouraging and studies with large sample sizes can be considered for further conclusive evidence on the treatment of writer’s cramp.

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.

scholarly journals Erythromelanosis Follicularis Faciei et Colli: A Case Report in a Caucasian Male and Brief Review of the Literature

2020 ◽  
Vol 12 (3) ◽  
pp. 231-235
Author(s):  
Carl Maximilian Thielmann ◽  
Wiebke Sondermann
Keyword(s):  
Case Report ◽  
Family History ◽  
Clinical Presentation ◽  
Rare Condition ◽  
Unknown Etiology ◽  
Review Of The Literature ◽  
Caucasian Male

Erythromelanosis follicularis faciei et colli, a rare condition of unknown etiology, was first described by Kitamura et al. from Japan in 1960. It is characterized by a triad consisting of well-demarcated erythema, hyperpigmentation, and follicular papules. We report the case of a 50-year-old Caucasian male, who had asymptomatic symmetrical facial lesions since the age of 42. His family history was unremarkable. Published erythromelanosis follicularis faciei et colli cases of the last 10 years are summarized in this report to demonstrate the variability and differences in the clinical presentation of this uncommon diagnosis.

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