scholarly journals Enduring phenotype of episodic status migrainosus in a prospectively identified patient

2018 ◽  
Vol 1 ◽  
pp. 251581631881522 ◽  
Author(s):  
Jonathan H Smith

Episodic status migrainosus is a previously described migraine variant where the exclusive phenotype is that of relapsing status migrainosus. The majority of cases have been reported based on retrospective chart review. A prospectively identified case fulfilling previously published criteria for episodic status migrainosus is reported, with an enduring pattern of attacks meeting criteria for status migrainosus over a 35-year period. A family history in a maternal aunt of a similar phenotype was noted. This prospectively identified case further validates the existence of episodic status migrainosus as a novel nosologic entity. The family history in our case suggests the possibility of genetic susceptibility. Perspective regarding a potential temporal continuum between acute migraine, status migrainosus, and new daily persistent headache is described. Status migrainosus may occur both as a complication of migraine and in the pure form of episodic status migrainosus.

Author(s):  
Lundy McKibbin ◽  
Colin Barber ◽  
Chrystyna Kalicinsky ◽  
Richard Warrington

Abstract Background Hereditary angioedema with normal C1 inhibitor (HAE-nC1 INH) is a rare, underappreciated condition characterized by recurrent subcutaneous angioedema. The underlying pathophysiology and diagnostic criteria continues to evolve. There is a significant overlap between HAE-nC1 INH and idiopathic nonhistaminergic angioedema, ultimately this may be found to be the same condition. Characterization of cohorts suspected to have either of these conditions is warranted to help refine diagnosis, pathophysiology, and treatment response. Methods A retrospective chart review of 418 patients diagnosed with angioedema was conducted. The following inclusion criteria was used: lack of response to antihistamines, steroids, and epinephrine; normal C4, C1 inhibitor (C1 INH) level and function; lack of urticaria or pruritus; occurrence without offending drugs; and positive family history. Enzyme immunoassays for C1 INH function were performed at the Mayo Clinic. Charts meeting these criteria were reviewed for frequency and type of episodes as well as use and response to therapies. Results 6 patients met the above criteria. 3 of these completed genetic testing, none were found to have factor XII abnormalities. None had angiopoietin 1 or plasminogen gene sequencing. 5 of 6 patients were successfully treated with C1 INH or tranexamic acid for acute treatment of attacks (4 with C1 INH and 1 with tranexamic acid). 4 patients have used Icatibant with good response (typically under 40 min for near full recovery); of these, 3 required Icatibant as acute treatment after other therapies (C1 inhibitor and tranexamic acid) were ineffective. There were 9 patients who otherwise met criteria, but due to a lack of family history were classified as having idiopathic non-histaminergic angioedema. Conclusions This retrospective chart review found 6 HAE-nC1 INH patients in Manitoba. 1 responded to tranexamic acid and not C1 INH, 4 typically responded to C1 INH, and 1 responded exclusively to Icatibant. All patients—4 total—who used Icatibant responded; of these 4 patients, 3 required Icatibant after other therapies had failed.


2009 ◽  
Vol 9 (1) ◽  
Author(s):  
Makiko Nakagawa ◽  
Chiaki Kawanishi ◽  
Tomoki Yamada ◽  
Yoko Iwamoto ◽  
Ryoko Sato ◽  
...  

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Cindy L. Lamerson ◽  
Kristina Eaton ◽  
Joel L. Sax ◽  
Mohammed Kashani-Sabet

This study examined whether patient-identified melanomas were more advanced than dermatologist-identified tumors at routine clinic visits, and whether a personal or family history of skin cancer was associated with patterns of detection. A retrospective chart review was performed on melanoma patients (N=201) in a private dermatology clinic. Variables included age, gender, pattern of detection (i.e., patient or a board certified dermatologist), personal or family history of skin cancer, skin type, and previous sun exposure, as well as tumor location and severity. Dermatologist-diagnosed melanomas were less invasive (P<0.0005), and more likely present on the chest, back, and legs (P<0.01). Conversely, patient-identified lesions were more likely to occur on the face, neck and scalp, be associated with younger patients, and a family history of melanoma, but not other types of skin cancer (P<0.01). In a post-hoc analysis examining these factors as predictors of tumor invasiveness, only diagnostic source was significant. Specifically, dermatologist-identified tumors were significantly less invasive than patient-identified tumors. Although age, family history, and tumor location played roles in the early detection of melanomas, the most important factor was diagnostic source. Thus, board-certified dermatologists play a key role in the early detection of malignant melanoma.


2010 ◽  
Vol 14 (5) ◽  
pp. 212-222 ◽  
Author(s):  
Sejal K. Shah ◽  
Andrew F. Alexis

Background: Few studies have investigated central centrifugal cicatricial alopecia (CCCA). Thus, our understanding of CCCA is largely based on anecdotal evidence. Objective: The purpose of this study was to investigate clinical characteristics and hair care practices in CCCA patients. Methods: We conducted a single-center retrospective chart review of patients with a clinicopathologic diagnosis of CCCA. Results: Medical records of 69 patients were reviewed. Of these, 97% were female. The mean ages at onset and presentation were 38.2 and 42.4 years, respectively. All subjects for whom hair care data were available had used a traumatic practice at least once, the most common being chemical relaxer. Family history data were available for 27 subjects (39%). Of these, 56% had a positive family history of hair loss. Seborrheic dermatitis was the leading concurrent diagnosis. Limitations: Limitations include lack of a control group, retrospective design, and selection bias. Conclusions: Our results confirm that CCCA primarily affects adult women of African descent. The majority of patients presented several years after onset, suggesting that efforts to encourage earlier diagnosis are warranted. Although the role of hair care remains unclear, traumatic practices were reported in all patients in our study for whom hair care was documented.


Cephalalgia ◽  
2002 ◽  
Vol 22 (1) ◽  
pp. 66-69 ◽  
Author(s):  
D Li ◽  
TD Rozen

New daily persistent headache (NDPH) is a subtype of chronic daily headache. The literature on NDPH is scant and its true aetiology is unknown. A retrospective chart review was carried out from a computerized database at the Jefferson Headache Centre from August 1997 to May 2000 to identify patients with NDPH using the Silberstein et al. criteria. Forty women and 16 men were identified. Age of onset ranged from 12 to 78 years. The peak age of onset was the second and third decade in women and the fifth decade in men. Eighty-two per cent of patients were able to pinpoint the exact day their headache started. Onset occurred in relation to an infection or flu-like illness in 30%. A prior headache history was found in 38% of patients. A family history of headache was documented in 29%. The duration of daily headache ranged from 1.5 h to 24 h; 79% were continuous. Nausea occurred in 68% of patients, photophobia in 66%, phonophobia in 61%, and lightheadedness in 55%. Laboratory testing and neuroimaging in all patients was normal except for Epstein-Barr virus antibody titres, which were positive in 71% of seven patients tested, representing past infection. NDPH appears to be a female-predominant disorder, marked by a continuous daily headache with associated migrainous symptoms. Over 80% of patients could state the exact date their headache began. One-third of patients developed NDPH with a flu-like illness.


1986 ◽  
Vol 55 (02) ◽  
pp. 218-221 ◽  
Author(s):  
A M Fischer ◽  
P Cornu ◽  
C Sternberg ◽  
F Mériane ◽  
M D Dautzenberg ◽  
...  

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.


2016 ◽  
Vol 43 (2) ◽  
pp. 191-207 ◽  
Author(s):  
Richard Mearns ◽  
Laurent Chevrier ◽  
Christophe Gouraud

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.


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