scholarly journals Curly tail: a 50-year history of the mouse spina bifida model

2001 ◽  
Vol 203 (4) ◽  
pp. 225-238 ◽  
Author(s):  
H. W. M. van Straaten ◽  
Andrew J. Copp
Keyword(s):  
PEDIATRICS ◽  
1965 ◽  
Vol 35 (4) ◽  
pp. 589-595
Author(s):  
John Lorber

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.


2021 ◽  
Vol 111 (3) ◽  
Author(s):  
Brittany A. Lovett ◽  
Cristóbal S. Berry-Cabán ◽  
Deanna E. Duran ◽  
Sharon P. McKiernan

We present a case of a pediatric patient with a history of spina bifida who presented to the emergency department of a large Army medical treatment facility with a partially amputated right fifth digit she sustained while sleeping with the family canine. There are several reports in the popular press that suggest that an animal, particularly a dog, can detect human infection, and it is hypothesized that the toe chewing was triggered by a wound infection. This case provides an opportunity to provide further education in caring for foot wounds in patients with spina bifida.


2020 ◽  
Vol 39 (7) ◽  
pp. 453-457
Author(s):  
Silvia Ventresca ◽  
Micol Bacchini ◽  
Giulia Graziani ◽  
Federico Marchetti

Rectal prolapse is an overall rare occurrence in children in the first 4 years of age. It typically tends to relapse. In the majority of cases it is not possible to highlight a single cause that determines prolapse, even if it is more frequent in children who suffer from constipation. In about 1 in 10 cases there is an underlying predisposing anatomical-neurological condition (in particular neurological: myelomenigocele, spina bifida occulta). A predisposing cause that must always be considered and excluded is cystic fibrosis, even in the age of newborn screening. Rectal prolapse management is conservative in most cases. Behavioural measures (correct toilet training, good hydration, diet rich in fibres) and the use of the macrogol laxative are fundamental. The prolapse that does not resolve spontaneously must be reduced manually by instructing the family on the technique to be used. In 90% of cases the natural history of rectal prolapse is favourable, with complete resolution within the first 4 years of age. After this age, it occurs more rarely. Surgery is rarely indicated. The current techniques that have a large consensus are sclerotherapy and laparoscopic rectopexy. The paper reports the management of recurrent rectal prolapse in a 3-year-old boy.


2020 ◽  
Vol 13 (4) ◽  
pp. 543-548
Author(s):  
Patricia Beierwaltes ◽  
Sharon Munoz ◽  
Jennifer Wilhelmy

PURPOSE: Skin-related issues have a significant impact on health, activities of daily living, and quality of life among people with spina bifida. Data presented by select clinics that participate in the National Spina Bifida Patient Registry reported that 26% of individuals had a history of pressure injuries with 19% having had one in the past year. The spina bifida community lack direct guidelines on prevention of these and other skin related issues. The Integument (skin) Guidelines focus on prevention, not treatment, of existing problems. METHODS: Using a consensus building methodology, the guidelines were written by experts in spina bifida and wound care. RESULTS: The guidelines include age-grouped, evidence-based guidelines written in the context of an understanding of the whole person. They are presented in table format according to the age of the person with spina bifida. CONCLUSION: These guidelines present a standardized approach to prevention of skin-related issues in spina bifida. Discovering what results in successful minimization of skin-related issues with testing of technology or prevention strategies is the next step in protecting this vulnerable population.


The Lancet ◽  
1969 ◽  
Vol 294 (7613) ◽  
pp. 213
Author(s):  
StephenP. Mark

2021 ◽  
Vol 14 (4) ◽  
pp. e240634
Author(s):  
Andrew Webster ◽  
Rishabh Singh ◽  
John Stebbing

We report the case of a 48-year-old man with spina bifida and history of previous ventriculoperitoneal (VP) shunt placement for hydrocephalus. On attempted removal of the shunt 2 years prior to presentation at a neurosurgical unit, the peritoneal component was left in situ due to difficulties with removal. He presented acutely to our general surgical department with an enterocutaneous fistula precipitated by the retained fragment discharging to the right upper abdominal quadrant that required urgent surgical intervention. Although abdominal complications of VP shunts are documented, there is minimal literature as to the risks of remnant catheters being left in situ. This case demonstrates the possible risks with retained VP shunt catheters and the necessity to remove any redundant foreign bodies to prevent significant delayed complications.


2012 ◽  
Vol 28 (10) ◽  
pp. 1693-1700 ◽  
Author(s):  
Samuel G. McClugage ◽  
Koichi Watanabe ◽  
Mohammadali M. Shoja ◽  
Marios Loukas ◽  
R. Shane Tubbs ◽  
...  

2009 ◽  
Vol 3 (5) ◽  
pp. 412-419 ◽  
Author(s):  
Shizuo Oi ◽  
Sadahiro Nomura ◽  
Masato Nagasaka ◽  
Hajime Arai ◽  
Reizo Shirane ◽  
...  

Object The natural history of asymptomatic spinal lipoma in infancy remains unclear, and the indication for the prophylactic untethering operation is still debatable. To address this question, a multicenter cooperative study for the treatment of spinal lipoma was performed by the 7 most active institutions in neurosurgical care for spina bifida in Japan between 2001 and 2005. Methods Patients were classified using the embryopathogenetic surgicoanatomical classification. Their neurosurgical postoperative course was analyzed using the Spina Bifida Neurological Scale. Among 261 patients, 159 were asymptomatic and 102 were symptomatic. Results Of the 136 patients for whom prophylactic surgeries were performed, 135 remained asymptomatic and only 1 (0.4%) of the 261 patients presented with mild sensory disturbance. Mild foot deformity was identified in 1 (4.3%) of 23 conservatively observed patients. Of 100 symptomatic patients, deterioration after surgery was seen in 6%, and improvement in 44%. Complete resolution of symptoms was seen in only 14.2%. Filar types for patients > 3 years old improved in Spina Bifida Neurological Scale scores from 12.3 to 14.0. The mean age of symptomatic patients with lipomyelomeningocele was the youngest of all (1.3 years), which indicates lipomyelomeningocele may deteriorate in early infancy. Improvements from surgery were seen for all types of lipoma except the caudal type, presenting at an older mean age (15 years). Conclusions A low rate of postsurgical worsening indicates that surgeries for asymptomatic and symptomatic lipomas are safe. Surgeries done after the onset of symptoms seldom cure the patients. These two results support early untethering for any kind of lipoma; however, further study of the natural history is required.


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