Traumatic Astasia-abasia in an Epileptic Child [Astasia-abasia traumatica in bambina epilettica]. (Riv. di pat. nerv. e ment, February, 1902.) Gabbi, V.

1903 ◽  
Vol 49 (204) ◽  
pp. 176-177
Author(s):  
J. R. Gilmour

The patient was a child of 7 years, of good family history, both direct and collateral. No other members of the family suffered from epilepsy, and there was no evidence of syphilis. Somewhat slow in development, she began to walk and speak in her fourth year. About this time she would fall down with loss of consciousness lasting from five to six minutes. Bromide diminished these attacks, but afterwards marked convulsions developed, without aura or cry, with frothing at the mouth, incontinence of urine, marked prostration, and headache. Further symptoms supervened. On examination the patient was found to be well developed and nourished. Each three or four months she suffers from the convulsive attacks previously described. Percussion of the head causes the following phenomena:—A light blow on the scalp or face without warning to the child causes either an immediate fall or sudden and very marked trembling, and movements in the upper limbs are noticed. These bear no relation to the strength of the blow, and any hurt to the body produces no effect. Methodical percussion over the motor areas does not produce any isolated contraction. There is no difference on the two sides of the cranium. Excitement increases the effects. Anæsthesia of a skin area by chloride of ethyl produces no alteration. Electrical stimulation does not influence the condition. After the fall the child arose crying and agitated, the walk was uncertain and hesitating, the arms being used to balance, and she walked zigzag, as if the power of directing herself were lost—almost like a cerebellar gait.

2006 ◽  
Vol 37 (06) ◽  
Author(s):  
B Hillenbrand ◽  
C Schroeter ◽  
S Hambrecht ◽  
DM Schäfer ◽  
JP Ernst

1886 ◽  
Vol 32 (137) ◽  
pp. 56-58 ◽  
Author(s):  
W. Hale White

Thomas H., æt. 40, was admitted into Guy's Hospital under my care on February 6th, 1886, for unconsciousness following fits. No family history of insanity or fits; father has gout, otherwise the family history is very good. The patient is a plumber. Ten years ago he had colic, and also eight years ago. Seven years ago he had “rheumatic gout,” to which he has been subject ever since. He has been a moderate drinker. On February 2nd he was troubled with a severer attack than usual of pain in the wrist. On February 4th in the evening he had a fit, commencing by his making a loud, shrill noise, rapidly followed by trembling in the body and limbs. He foamed at the mouth; the teeth were clenched; the eyes were staring. The fit lasted thirty minutes, when he seemed to recover himself, but on being spoken to did not answer, seeming stupid. He got up, dressed himself, and went downstairs. He appeared fairly well till five o'clock the next evening, during which time his power of speech partly returned. He expressed a wish to go to bed, which he did, and fell off into a quiet sleep, remaining undisturbed till 12 o'clock, when he had another fit resembling the first. This second one lasted for fifteen minutes, and about three minutes after it had ceased another took place. He then had a succession of them for about three hours, each being rather more maniacal than the previous. His voice entirely left him, and he again would or could not speak. A medical man administered a draught, after which the patient fell into a quiet sleep. He remained free from the fits till the following night, when he had another series rather severer than on the previous night. During this night the patient was very restless, getting out of bed and throwing his arms about. He became so violent that he had to be held down by four men. After a time he became quieter, and was brought to Guy's Hospital.


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.


2011 ◽  
Vol 20 (1) ◽  
pp. 161-173
Author(s):  
A.P. Kassatkina

Resuming published and own data, a revision of classification of Chaetognatha is presented. The family Sagittidae Claus & Grobben, 1905 is given a rank of subclass, Sagittiones, characterised, in particular, by the presence of two pairs of sac-like gelatinous structures or two pairs of fins. Besides the order Aphragmophora Tokioka, 1965, it contains the new order Biphragmosagittiformes ord. nov., which is a unique group of Chaetognatha with an unusual combination of morphological characters: the transverse muscles present in both the trunk and the tail sections of the body; the seminal vesicles simple, without internal complex compartments; the presence of two pairs of lateral fins. The only family assigned to the new order, Biphragmosagittidae fam. nov., contains two genera. Diagnoses of the two new genera, Biphragmosagitta gen. nov. (type species B. tarasovi sp. nov. and B. angusticephala sp. nov.) and Biphragmofastigata gen. nov. (type species B. fastigata sp. nov.), detailed descriptions and pictures of the three new species are presented.


2021 ◽  
Vol 22 (9) ◽  
pp. 4700
Author(s):  
Michelle M. Monasky ◽  
Emanuele Micaglio ◽  
Giuseppe Ciconte ◽  
Ilaria Rivolta ◽  
Valeria Borrelli ◽  
...  

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.


Cancers ◽  
2021 ◽  
Vol 13 (11) ◽  
pp. 2670
Author(s):  
Moira O’Connor ◽  
Greta Smith ◽  
Ashleigh Pantaleo ◽  
Darren Haywood ◽  
Rhys Weaver ◽  
...  

Sarcomas are a group of rare and aggressive cancers, which develop in bones and connective tissue throughout the body. Sarcomas account for only 1–2% of all cancers worldwide; however, mortality rates for sarcoma are high with approximately two in four sarcoma patients dying following a diagnosis. Delays in diagnosis, poor management of symptoms, patients’ high symptom loads and high carer burden are all associated with carer distress, which may lead to complications after bereavement. The experience of having a family member referred for palliative care is also distressing for carers, with the realisation that their family member is dying. This study aimed to explore the experiences of bereaved family carers of people diagnosed with sarcoma. A qualitative descriptive design using a social constructionist framework was adopted. Interviews were conducted with sixteen participants, and thematic analysis was used to identify patterns in the data. Four overarching themes emerged: beginning the journey; moving through treatment; transitioning to palliative care; and experiencing bereavement. The narratives were coherent and potent, and people reflected on their journeys. Interventions and supports for bereaved carers could include opportunities for counselling to support reflections, supports for developing a narrative such as writing therapy, and preparation for the death of the family member.


2021 ◽  
Vol 13 (1) ◽  
pp. 91-94
Author(s):  
Ana Carolina Pereira de Godoy ◽  
Jose Maria Pereira de Godoy ◽  
Maria de Fatima Guerreiro Godoy

Introduction: Lymphedema is a specific type of edema that affects regions of the body in a chronic, progressive manner. Aim: The aim of the present study was to describe the therapeutic evolution of more than ten years of treatment for primary congenital lymphedema using the Godoy and Godoy method. Method: Ten children with primary congenital lymphedema with more than ten years of treatment at the Godoy Clinic were evaluated. Children with a clinical diagnosis of primary congenital lymphedema in treatment for more than 10 years with the Godoy Method. Cervical stimulation is the first treatment option of the method and is performed as monotherapy. The patients were reevaluated with weekly, bi-weekly and monthly frequencies and then every three months or when the family was able to return to the clinic. Results: For cases in which cervical stimulation was not possible, grosgrain stockings as monotherapy was the second therapeutic option. Conclusion: The Godoy and Godoy Method is effective at reducing edema in cases of primary congenital lymphedema, with the maintenance of the results throughout the treatment period.


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