THE FAMILY HISTORY OF SPINA BIFIDA CYSTICA

PEDIATRICS ◽  
1965 ◽  
Vol 35 (4) ◽  
pp. 589-595
Author(s):  
John Lorber
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Spina Bifida ◽  
Index Case ◽  
Progressive Increase ◽  
Point Of View ◽  
The Family ◽  
History Of ◽  
The Central Nervous System ◽  
Spina Bifida Cystica

1. The family histories of 722 infants who were born with spina bifida cystica were studied. 2. The index cases were referred for surgical treatment and were not selected in any way from the genetic point of view. 3. Intensive inquiries were made to obtain a complete family pedigree, including a prospective follow-up of siblings born after the index case. 4. Of 1,256 siblings 85 or 6.8% had gross malformation of the central nervous system: spina bifida cystica in 54, anencephaly in 22, and uncomplicated hydrocephalus in 9. 5. Of 306 children born after the index case 25 (8%) or 1 in 12 were affected. 6. There was a progressive increase in multiple cases in the family with increasing family size. In sibships of five or more, multiple cases occurred in 24.1%. 7. In 118 families cases of gross malformation of the central nervous system were known to have occurred among members of the family other than siblings. Cases occurred in three generations. 8. It is possible that spina bifida cystica might be a recessively inherited condition.

Spina bifida and anencephaly: a problem in genetic–environmental interaction

1969 ◽  
Vol 1 (1) ◽  
pp. 71-83 ◽  
Author(s):  
C. O. Carter
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Seasonal Variation ◽  
Spina Bifida ◽  
Maternal Age ◽  
Genetic Factors ◽  
Order Effects ◽  
Childhood Morbidity ◽  
The Central Nervous System ◽  
Spina Bifida Cystica

SummaryAnencephaly and spina bifida cystica, malformations of the central nervous system, are due to failure of closure of the neural tube. These malformations are a major cause of stillbirth, infant death and (in the case of spina bifida) of childhood morbidity in Britain today.Their aetiology is not known in detail. There are, however, indications from family studies and from the striking racial variation in their incidence (which is in part at least maintained after migration) that genetic factors are important in their causation. There is also evidence from maternal age and birth order effects, secular and seasonal variation, and social class effects that environmental factors also are important in their aetiology.

New Advanced Strategies for the Treatment of Lysosomal Diseases Affecting the Central Nervous System

2019 ◽  
Vol 25 (17) ◽  
pp. 1933-1950 ◽  
Author(s):  
Maria R. Gigliobianco ◽  
Piera Di Martino ◽  
Siyuan Deng ◽  
Cristina Casadidio ◽  
Roberta Censi
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Polymeric Nanoparticles ◽  
Genetic Diseases ◽  
Point Of View ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Lysosomal Diseases ◽  
The Central Nervous System ◽  
Enzyme Delivery

Lysosomal Storage Disorders (LSDs), also known as lysosomal diseases (LDs) are a group of serious genetic diseases characterized by not only the accumulation of non-catabolized compounds in the lysosomes due to the deficiency of specific enzymes which usually eliminate these compounds, but also by trafficking, calcium changes and acidification. LDs mainly affect the central nervous system (CNS), which is difficult to reach for drugs and biological molecules due to the presence of the blood-brain barrier (BBB). While some therapies have proven highly effective in treating peripheral disorders in LD patients, they fail to overcome the BBB. Researchers have developed many strategies to circumvent this problem, for example, by creating carriers for enzyme delivery, which improve the enzyme’s half-life and the overexpression of receptors and transporters in the luminal or abluminal membranes of the BBB. This review aims to successfully examine the strategies developed during the last decade for the treatment of LDs, which mainly affect the CNS. Among the LD treatments, enzyme-replacement therapy (ERT) and gene therapy have proven effective, while nanoparticle, fusion protein, and small molecule-based therapies seem to offer considerable promise to treat the CNS pathology. This work also analyzed the challenges of the study to design new drug delivery systems for the effective treatment of LDs. Polymeric nanoparticles and liposomes are explored from their technological point of view and for the most relevant preclinical studies showing that they are excellent choices to protect active molecules and transport them through the BBB to target specific brain substrates for the treatment of LDs.

scholarly journals The life history of Hepatozoon leptodactyli (Lesage, 1908) Pessoa, 1970: a parasite of the common laboratory animal: the frog of the genus Leptodactylus

1973 ◽  
Vol 71 (1-2) ◽  
pp. 1-8 ◽  
Author(s):  
Sylvio Celso Goncalves da Costa ◽  
Samuel B. Pessoa ◽  
Neize de Moura Pereira ◽  
Tania Colombo
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Life History ◽  
Laboratory Animal ◽  
Peripheral Circulation ◽  
Experimental Conditions ◽  
History Of ◽  
The Central Nervous System ◽  
The Common ◽  
Common Laboratory

The main object of the present paper is to furnish a brief account to the knowledgement of Protozoa parasitic in common Brazilian frog of the genus Leptodactylus for general students in Zoology and for investigators that use this frog as a laboratory animal. Hepatozoon leptodactyli (Haemogregarina leptodactyli) was found in two species of frogs - Leptodactylus ocellatus and L. pentadactylus - in which develop schizogony whereas sporogony occurs in the leech Haementeria lutzi as was obtainded in experimental conditions. Intracellular forms have been found in peripheral circulation, chiefly in erythrocytes, but we have found them in leukocytes too. Tissue stages were found in frog, liver, lungs, spleen, gut, brain and heart. The occurence of hemogregarine in the Central Nervous System was recorded by Costa & al,(13) and Ball (2). Some cytochemical methods were employed in attempt to differentiate gametocytes from trophozoites in the peripheral blood and to characterize the cystic membrane as well. The speorogonic cycle was developed in only one specie of leech. A brief description of the parasite is given.

scholarly journals Ecstasy-Associated Pneumomediastinum

2007 ◽  
Vol 89 (4) ◽  
pp. 389-393 ◽  
Author(s):  
Silvana F Marasco ◽  
H Kiat Lim
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Young Adults ◽  
Inner City ◽  
Physical Exertion ◽  
Pharmacological Effect ◽  
Valsalva Manoeuvre ◽  
The Hours ◽  
History Of ◽  
The Central Nervous System

INTRODUCTION Ecstasy, also known as MDMA (3,4, methylenedioxymethamphetamine), is a popular illicit party drug amongst young adults. The drug induces a state of euphoria secondary to its stimulant activity in the central nervous system. PATIENTS AND METHODS A database review at two major inner city hospitals was undertaken to identify patients presenting with pneumomediastinum and their charts reviewed. A Medline review of all reported cases of pneumomediastinum associated with ecstasy abuse was undertaken. RESULTS A total of 56 patients presenting with pneumomediastinum were identified over a 5-year period. Review of the charts revealed a history of ecstasy use in the hours prior to presentation in six of these patients, representing the largest series reported to date. CONCLUSIONS Review of previously reported cases reveals the likely mechanism is due to Valsalva manoeuvre during periods of extreme physical exertion, and not a direct pharmacological effect of the drug.

Risperidone in the Treatment of Pervasive Developmental Disorder

1994 ◽  
Vol 39 (7) ◽  
pp. 400-405 ◽  
Author(s):  
Scot E. Purdon ◽  
Wilson Lit ◽  
Alain Labelle ◽  
Barry D.W. Jones
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Pervasive Developmental Disorder ◽  
Autistic Disorder ◽  
Developmental Disorder ◽  
Psychiatric Patients ◽  
High Likelihood ◽  
Before And After ◽  
History Of ◽  
The Central Nervous System

Elevated concentrations of blood serotonin have been documented in autistic children and mentally retarded adults. Antiserotonergic pharmacotherapy has been partially effective in treating a subgroup of children with autistic disorder. Therefore, the possibility is raised that an antiserotonergic treatment may be of value to adult psychiatric patients with a history of pervasive developmental disorder. Two such cases are described where the patients underwent psychiatric and neuropsychological examination before and after treatment with risperidone, a potent 5-HT2 antagonist with additional D2 antagonistic properties. Particular improvements were documented in both patients, despite long histories of cognitive compromise and high likelihood of damage to the central nervous system.

Modern Blockbusters

2016 ◽  
Author(s):  
Dieter Schmidt ◽  
Simon Shorvon
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Antiepileptic Drugs ◽  
Early Development ◽  
Commercial Success ◽  
Good Fortune ◽  
Interesting Study ◽  
History Of ◽  
The Central Nervous System

Five modern antiepileptic drugs have reached the fabled blockbuster status (more than $1 billion sales per year), albeit for treatment of not only epilepsy but for other disorders of the central nervous system too. These drugs generated huge profits, and the chapter asks, how were they discovered and are they worth their money? The history of the five blockbusters—levetiracetam, lamotrigine, topiramate, gabapentin, and pregabalin—provides an interesting study of chance, science, wrong ideas, and finance, and most importantly luck. The discovery of the antiepileptic effects of some of these compounds was stumbled upon by simple good fortune, and others barely escaped an early demise during an unpromising early development. Despite the commercial success, no study has shown any of these drugs to be any more effective than older drugs, yet they made billions. This chapter examines how industry could do this and what the drivers are for success.

Sign in / Sign up

Export Citation Format

Share Document