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| __NOTOC__ | | __NOTOC__ |
| {{Spina bifida}} | | {{Spina bifida}} |
| | {{CMG}}; {{AE}}, {{MMJ}}, {{M.B}} |
| | ==[[Spina bifida overview|Overview]]== |
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| {{CMG}}; {{AE}} {{MMJ}}
| | ==[[Spina bifida historical perspective|Historical Perspective]]== |
| ==Pathophysiology== | |
| * Spina bifida is a congenital malformation in which the spinal column is split (bifid) as a result of failed closure of the embryonic neural tube, during the fourth week post-fertilization.<ref name="pmid5327787">{{cite journal |vauthors=Kenworthy ME |title=Introducing the American Orthopsychiatric Association's president for 1966-67: Norman V. Lourie |journal=Am J Orthopsychiatry |volume=36 |issue=4 |pages=587–9 |date=July 1966 |pmid=5327787 |doi= |url=}}</ref>
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| * [[Spina bifida occulta]]: In this type of spina bifida, the defect of [[vertebrate]] is covered by [[skin]] ("Occulta" means "hidden"). The [[spinal cord]] does not stick out through the skin, although the skin over the lower spine may have a patch of hair, a [[birthmark]], or a dimple above the groove between the [[buttocks]].<ref name="pmid5327787">{{cite journal |vauthors=Kenworthy ME |title=Introducing the American Orthopsychiatric Association's president for 1966-67: Norman V. Lourie |journal=Am J Orthopsychiatry |volume=36 |issue=4 |pages=587–9 |date=July 1966 |pmid=5327787 |doi= |url=}}</ref>
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| * Spina ifida aperta: In this type of spina bifida , the defect is widely open and is sub classified into 2 types: Meningocele and Myelomeningocele.<ref name="pmid5327787">{{cite journal |vauthors=Kenworthy ME |title=Introducing the American Orthopsychiatric Association's president for 1966-67: Norman V. Lourie |journal=Am J Orthopsychiatry |volume=36 |issue=4 |pages=587–9 |date=July 1966 |pmid=5327787 |doi= |url=}}</ref>
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| ==Differentiating spina bifida from other Diseases==
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| *Spina bifida must be differentiated from other diseases that cause [[vertebral column]] defects, such as:
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| :*Terminal myelocystocele<ref name="pmid9514174">{{cite journal |vauthors=Meyer SH, Morris GF, Pretorius DH, James HE |title=Terminal myelocystocele: important differential diagnosis in the prenatal assessment of spina bifida |journal=J Ultrasound Med |volume=17 |issue=3 |pages=193–7 |date=March 1998 |pmid=9514174 |doi= |url=}}</ref>
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| :*Spine segmental [[dysgenesis]]<ref name="pmid3374785">{{cite journal |vauthors=Scott RM, Wolpert SM, Bartoshesky LE, Zimbler S, Karlin L |title=Segmental spinal dysgenesis |journal=Neurosurgery |volume=22 |issue=4 |pages=739–44 |date=April 1988 |pmid=3374785 |doi= |url=}}</ref>
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| :*[[Caudal regression syndrome]] ([[sacral agenesis]])<ref name="pmid4925436">{{cite journal |vauthors=Kremser E, Mitchell GM |title=Treatment of primary dysmenorrhea with a combined type oral contraceptive--a double blind study |journal=J Am Coll Health Assoc |volume=19 |issue=3 |pages=195–6 |date=February 1971 |pmid=4925436 |doi= |url=}}</ref>
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| :*Multiple [[vertebral]] segmentation disorder<ref name="pmid5991006">{{cite journal |vauthors=Benedetti-Valentino F J, De Feo V, Pistolese GR, Fiorani P |title=[Nephroptosis and fibromuscular hyperplasia of the tunica media of the renal arteries] |language=Italian |journal=Minerva Cardioangiol |volume=14 |issue=9 |pages=528–34 |date=September 1966 |pmid=5991006 |doi= |url=}}</ref>
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| :*[[VACTERL]]<ref name="pmid3169446">{{cite journal |vauthors=Naccarato R, Sturniolo GC, Martin A, D'Odorico A, Montino C |title=[Irritable bowel syndrome] |language=Italian |journal=G Clin Med |volume=69 |issue=3 |pages=163–8 |date=March 1988 |pmid=3169446 |doi= |url=}}</ref>
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| ==Epidemiology and Demographics== | | ==[[Spina bifida classification|Classification]]== |
| * The prevalence of spina bifida is approximately 187 to 890 per 100,000 live births.<ref name="pmid5684468">{{cite journal |vauthors=Csaba G, Körösi J |title=A new antitumour agent: phenazathionium-mustard salt |journal=Neoplasma |volume=15 |issue=4 |pages=443–5 |date=1968 |pmid=5684468 |doi= |url=}}</ref>
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| ===Age===
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| *Spina bifida is more commonly observed among preterm newborns.<ref name="pmid4898641">{{cite journal |vauthors=Bannur BB, Purandare GM |title=Microbial production of L-lysine |journal=Hindustan Antibiot Bull |volume=11 |issue=3 |pages=191–205 |date=February 1969 |pmid=4898641 |doi= |url=}}</ref>
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| ===Gender===
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| *Female newborns are more commonly affected with spina bifida than male newborns.<ref name="pmid3738390">{{cite journal |vauthors=Doutre MS, Beylot C, Busquet M, Barberis C, Fauchier JM, Lecastereyres D, Beylot J |title=[Familial scleroderma of the Thibierge-Weissenbach type] |language=French |journal=Rev Rhum Mal Osteoartic |volume=53 |issue=4 |pages=290–1 |date=April 1986 |pmid=3738390 |doi= |url=}}</ref>
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| ===Race===
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| *Spina bifida usually affects individuals of the Malays and Chinese and Indians race.<ref name="pmid5684468">{{cite journal |vauthors=Csaba G, Körösi J |title=A new antitumour agent: phenazathionium-mustard salt |journal=Neoplasma |volume=15 |issue=4 |pages=443–5 |date=1968 |pmid=5684468 |doi= |url=}}</ref>
| | ==[[Spina bifida pathophysiology|Pathophysiology]]== |
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| ==Risk Factors== | | ==[[Spina bifida causes|Causes]]== |
| *Common risk factors in the development of spina bifida are disturbed [[folate]]/[[homocysteine]] metabolism<ref name="pmid21207040">{{cite journal |vauthors=De Marco P, Merello E, Calevo MG, Mascelli S, Pastorino D, Crocetti L, De Biasio P, Piatelli G, Cama A, Capra V |title=Maternal periconceptional factors affect the risk of spina bifida-affected pregnancies: an Italian case-control study |journal=Childs Nerv Syst |volume=27 |issue=7 |pages=1073–81 |date=July 2011 |pmid=21207040 |doi=10.1007/s00381-010-1372-y |url=}}</ref><ref name="pmid24078478">{{cite journal |vauthors=Kondo A, Morota N, Ihara S, Saisu T, Inoue K, Shimokawa S, Fujimaki H, Matsuo K, Shimosuka Y, Watanabe T |title=Risk factors for the occurrence of spina bifida (a case-control study) and the prevalence rate of spina bifida in Japan |journal=Birth Defects Res. Part A Clin. Mol. Teratol. |volume=97 |issue=9 |pages=610–5 |date=September 2013 |pmid=24078478 |doi=10.1002/bdra.23179 |url=}}</ref>, presence of spina bifida patients within third-degree relatives<ref name="pmid24078478">{{cite journal |vauthors=Kondo A, Morota N, Ihara S, Saisu T, Inoue K, Shimokawa S, Fujimaki H, Matsuo K, Shimosuka Y, Watanabe T |title=Risk factors for the occurrence of spina bifida (a case-control study) and the prevalence rate of spina bifida in Japan |journal=Birth Defects Res. Part A Clin. Mol. Teratol. |volume=97 |issue=9 |pages=610–5 |date=September 2013 |pmid=24078478 |doi=10.1002/bdra.23179 |url=}}</ref>, taking [[Anti-epileptic drugs|anti-epileptic]] drugs without [[Folic Acid|folic acid]]<ref name="pmid24078478">{{cite journal |vauthors=Kondo A, Morota N, Ihara S, Saisu T, Inoue K, Shimokawa S, Fujimaki H, Matsuo K, Shimosuka Y, Watanabe T |title=Risk factors for the occurrence of spina bifida (a case-control study) and the prevalence rate of spina bifida in Japan |journal=Birth Defects Res. Part A Clin. Mol. Teratol. |volume=97 |issue=9 |pages=610–5 |date=September 2013 |pmid=24078478 |doi=10.1002/bdra.23179 |url=}}</ref>[[Folic Acid|,]] and [[low birth weight]] in the [[newborns]] ≤ 2500 g.<ref name="pmid24078478">{{cite journal |vauthors=Kondo A, Morota N, Ihara S, Saisu T, Inoue K, Shimokawa S, Fujimaki H, Matsuo K, Shimosuka Y, Watanabe T |title=Risk factors for the occurrence of spina bifida (a case-control study) and the prevalence rate of spina bifida in Japan |journal=Birth Defects Res. Part A Clin. Mol. Teratol. |volume=97 |issue=9 |pages=610–5 |date=September 2013 |pmid=24078478 |doi=10.1002/bdra.23179 |url=}}</ref>
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| == Natural History, Complications and Prognosis== | | ==[[Spina bifida differential diagnosis|Differentiating Spina bifida from other Diseases]]== |
| *Prognosis of patients with spina bifida is generally poor.
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| *Early clinical features include:<ref name="pmid10350196">{{cite journal |vauthors=Soonawala N, Overweg-Plandsoen WC, Brouwer OF |title=Early clinical signs and symptoms in occult spinal dysraphism: a retrospective case study of 47 patients |journal=Clin Neurol Neurosurg |volume=101 |issue=1 |pages=11–4 |date=March 1999 |pmid=10350196 |doi= |url=}}</ref><ref name="pmid4898641">{{cite journal |vauthors=Bannur BB, Purandare GM |title=Microbial production of L-lysine |journal=Hindustan Antibiot Bull |volume=11 |issue=3 |pages=191–205 |date=February 1969 |pmid=4898641 |doi= |url=}}</ref><ref name="pmid2647936">{{cite journal |vauthors=Horton D, Barnes P, Pendleton BD, Pollay M |title=Spina bifida occulta: early clinical and radiographic diagnosis |journal=J Okla State Med Assoc |volume=82 |issue=1 |pages=15–9 |date=January 1989 |pmid=2647936 |doi= |url=}}</ref>
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| **Weakness or [[paralysis]] in the legs.
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| **[[Urinary incontinence]]
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| **[[Bowel]] incontinence
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| **[[Sensation]] problems in the [[lower extremity]]
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| **[[Motor]] problems in the [[lower extrimity]]
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| **[[Hydrocephalus]]
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| *If left untreated, 50% of patients with congenital anomalies, especially spina bifida may die soon after birth in the underdeveloped countries.<ref name="pmid2441590">{{cite journal |vauthors=Kozlowski BW, Taylor ML, Baer MT, Blyler EM, Trahms C |title=Anticonvulsant medication use and circulating levels of total thyroxine, retinol binding protein, and vitamin A in children with delayed cognitive development |journal=Am. J. Clin. Nutr. |volume=46 |issue=2 |pages=360–8 |date=August 1987 |pmid=2441590 |doi=10.1093/ajcn/46.2.360 |url=}}</ref>
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| *[[Renal failure]] is the commonest cause of death in patients with spina bifida.<ref name="pmid2441590">{{cite journal |vauthors=Kozlowski BW, Taylor ML, Baer MT, Blyler EM, Trahms C |title=Anticonvulsant medication use and circulating levels of total thyroxine, retinol binding protein, and vitamin A in children with delayed cognitive development |journal=Am. J. Clin. Nutr. |volume=46 |issue=2 |pages=360–8 |date=August 1987 |pmid=2441590 |doi=10.1093/ajcn/46.2.360 |url=}}</ref>
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| *Common complications of [disease name] include:<ref name="pmid2441590">{{cite journal |vauthors=Kozlowski BW, Taylor ML, Baer MT, Blyler EM, Trahms C |title=Anticonvulsant medication use and circulating levels of total thyroxine, retinol binding protein, and vitamin A in children with delayed cognitive development |journal=Am. J. Clin. Nutr. |volume=46 |issue=2 |pages=360–8 |date=August 1987 |pmid=2441590 |doi=10.1093/ajcn/46.2.360 |url=}}</ref>
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| **[[Cardiac]] disease
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| **[[Respiratory disease]]
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| **[[Suicidality]]
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| **[[Cancer]]
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| == Diagnosis == | | ==[[Spina bifida epidemiology and demographics|Epidemiology and Demographics]]== |
| === Symptoms ===
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| *Early symptoms of spina bifida include:<ref name="pmid10350196" /><ref name="pmid4898641" /><ref name="pmid2647936" />
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| **Weakness or [[paralysis]] in the legs.
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| **[[Urinary incontinence]]
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| **[[Bowel]] incontinence
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| **[[Sensation]] problems in the [[lower extremity]]
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| **[[Motor]] problems in the [[lower extrimity]]
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| **[[Headache]]
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| === Physical examination ===
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| *Physical examination of patients with spina bifida may be remarkable for:<ref name="pmid4898641">{{cite journal |vauthors=Bannur BB, Purandare GM |title=Microbial production of L-lysine |journal=Hindustan Antibiot Bull |volume=11 |issue=3 |pages=191–205 |date=February 1969 |pmid=4898641 |doi= |url=}}</ref><ref name="pmid5327787">{{cite journal |vauthors=Kenworthy ME |title=Introducing the American Orthopsychiatric Association's president for 1966-67: Norman V. Lourie |journal=Am J Orthopsychiatry |volume=36 |issue=4 |pages=587–9 |date=July 1966 |pmid=5327787 |doi= |url=}}</ref>
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| :* Spinal area discoloration or [[birthmarks]] may be the only sign in the newborns with spina bifida occulta
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| :* Protrusions in the [[lumbar spine]]
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| :* Dimples in the [[lumbar spine]]
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| :* Hair patch along the spine
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| :*[[Hydrocephalus]] signs may be present:
| | ==[[Spina bifida risk factors|Risk Factors]]== |
| :**Enlarging head
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| :**Bulging [[fontanelle]]
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| :**Enlarged [[scalp veins]]
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| :**[[Cranial bones]] [[suture]] [[diastasis]]
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| :**Positive [[Macewen's sign|Macewen sign]]
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| :*[[Paralysis]]
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| :*Sensation problems
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| :*[[Scoliosis]]
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| :*Pressure [[Ulcer|ulcers]]
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| :*Learning disabilities
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| === Laboratory Findings === | | ==[[Spina bifida screening|Screening]]== |
| *There are no specific laboratory findings associated with spina bifida.
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| *An elevated concentration of Maternal Serum [[Alpha-fetoprotein|Alpha-Fetoprotein]] may be predictive for contemporary detection of spina bifida.<ref name="pmid26332586">{{cite journal |vauthors=Racusin DA, Villarreal S, Antony KM, Harris RA, Mastrobattista J, Lee W, Shamshirsaz AA, Belfort M, Aagaard KM |title=Role of Maternal Serum Alpha-Fetoprotein and Ultrasonography in Contemporary Detection of Spina Bifida |journal=Am J Perinatol |volume=32 |issue=14 |pages=1287–91 |date=December 2015 |pmid=26332586 |doi=10.1055/s-0035-1562930 |url=}}</ref>
| | ==[[Spina bifida natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
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| ===Imaging Findings=== | | ==Diagnosis== |
| *Three-dimensional ultrasound is the imaging modality of choice for characterisation of the open spina bifida spinal lesions.<ref name="pmid24373566">{{cite journal |vauthors=Trudell AS, Odibo AO |title=Diagnosis of spina bifida on ultrasound: always termination? |journal=Best Pract Res Clin Obstet Gynaecol |volume=28 |issue=3 |pages=367–77 |date=April 2014 |pmid=24373566 |doi=10.1016/j.bpobgyn.2013.10.006 |url=}}</ref>
| | [[Spina bifida diagnostic study of choice|Diagnostic study of choice]] | [[Spina bifida history and symptoms|History and Symptoms]] | [[Spina bifida physical examination|Physical Examination]] | [[Spina bifida laboratory findings|Laboratory Findings]] | [[Spina bifida electroencephalogram|Electroencephalogram]] | [[Spina bifida x ray|X-Ray Findings]] | [[Spina bifida echocardiography and ultrasound|Echocardiography and Ultrasound]] | [[Spina bifida CT scan|CT-Scan Findings]] | [[Spina bifida MRI|MRI Findings]] | [[Spina bifida other imaging findings|Other Imaging Findings]] | [[Spina bifida other diagnostic studies|Other Diagnostic Studies]] |
| *Ultrasound also is the gold standard diagnostic tool for spina bifida.<ref name="pmid24373566">{{cite journal |vauthors=Trudell AS, Odibo AO |title=Diagnosis of spina bifida on ultrasound: always termination? |journal=Best Pract Res Clin Obstet Gynaecol |volume=28 |issue=3 |pages=367–77 |date=April 2014 |pmid=24373566 |doi=10.1016/j.bpobgyn.2013.10.006 |url=}}</ref>
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| *On Three-dimensional ultrasound, spina bifida is characterized by:<ref name="pmid12054297">{{cite journal |vauthors=Lee W, Chaiworapongsa T, Romero R, Williams R, McNie B, Johnson A, Treadwell M, Comstock CH |title=A diagnostic approach for the evaluation of spina bifida by three-dimensional ultrasonography |journal=J Ultrasound Med |volume=21 |issue=6 |pages=619–26 |date=June 2002 |pmid=12054297 |doi= |url=}}</ref>
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| **[[Vertebral anomalies|Vertebral defect]]
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| **Splayed [[Vertebral|vertebral pedicles]]
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| **Disrupted [[vertebrae]]
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| == Treatment ==
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| === Surgery ===
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| *Prenatal surgery is the preferred treatment for spina bifida and it usually is done before the 26th week of [[pregnancy]].<ref name="pmid2293328">{{cite journal |vauthors=Ciovîrnache M, Simionescu L, Ioaniţiu D |title=[A study of palmar flexion folds by the Perera-Kolski quantitative method in acromegaly] |language=French |journal=Endocrinologie |volume=28 |issue=2 |pages=57–62 |date=1990 |pmid=2293328 |doi= |url=}}</ref><ref name="pmid3963040">{{cite journal |vauthors=Tilles DS, Goldenheim PD, Johnson DC, Mendelson JH, Mello NK, Hales CA |title=Marijuana smoking as cause of reduction in single-breath carbon monoxide diffusing capacity |journal=Am. J. Med. |volume=80 |issue=4 |pages=601–6 |date=April 1986 |pmid=3963040 |doi= |url=}}</ref>
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| *Intrauterine repair of spina bifida confers multiple advantages to [[infants]], including:<ref name="pmid3963040">{{cite journal |vauthors=Tilles DS, Goldenheim PD, Johnson DC, Mendelson JH, Mello NK, Hales CA |title=Marijuana smoking as cause of reduction in single-breath carbon monoxide diffusing capacity |journal=Am. J. Med. |volume=80 |issue=4 |pages=601–6 |date=April 1986 |pmid=3963040 |doi= |url=}}</ref>
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| **Lower rates of [[shunt]] dependency
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| **Lower rates of [[hindbrain]] [[herniation]]
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| **Better motor and disability functional outcomes
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| *Surgery after birth is done in patients who did not underwent prenatal surgery but the prognosis is worse and there are more possible complications after [[surgery]] in comparison with the prenatal [[surgery]].
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| === Prevention === | | ==Treatment== |
| *A protective effect of [[folate]] against the development of [[neural tube defect]]s (NTDs), specifically, spina bifida, is now well recognized, having been established by a lot of clinical research studies over the past half-century.<ref name="pmid17209211">{{cite journal |vauthors=Pitkin RM |title=Folate and neural tube defects |journal=Am. J. Clin. Nutr. |volume=85 |issue=1 |pages=285S–288S |date=January 2007 |pmid=17209211 |doi=10.1093/ajcn/85.1.285S |url=}}</ref>
| | [[Spina bifida medical therapy|Medical Therapy]] | [[Spina bifida surgery|Surgery]] | [[Spina bifida primary prevention|Primary Prevention]] |
| *Effective measures for the primary prevention of spina bifida include:<ref name="pmid3504607">{{cite journal |vauthors=Srb V, Kubzová E |title=[Comparison of the effects of 1st and 3d generation platinum cytostatics on the chromosomes of lymphocytes in human peripheral blood in vitro] |language=Czech |journal=Sb Ved Pr Lek Fak Karlovy Univerzity Hradci Kralove Suppl |volume=30 |issue=4 |pages=475–83 |date=1987 |pmid=3504607 |doi= |url=}}</ref>
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| **Not drinking alcohol
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| **Not smoking
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| **Not taking drugs
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| **Taking [[Folic Acid]]
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| *Taking oral daily [[folate]] is recommended for all pregnant women.<ref name="pmid17209211">{{cite journal |vauthors=Pitkin RM |title=Folate and neural tube defects |journal=Am. J. Clin. Nutr. |volume=85 |issue=1 |pages=285S–288S |date=January 2007 |pmid=17209211 |doi=10.1093/ajcn/85.1.285S |url=}}</ref>
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| *Neural tube closure is completed 28 days (four weeks) from conception, and the preventive effect of folic acid is not effective after that period.<ref name="pmid3279093">{{cite journal |vauthors=Alt TH |title=Aids to scalp reduction surgery |journal=J Dermatol Surg Oncol |volume=14 |issue=3 |pages=309–15 |date=March 1988 |pmid=3279093 |doi= |url=}}</ref>
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| *So, folate supplementation should start at least 4 weeks before conception and it should continue until at least two months after conception.<ref name="pmid3279093">{{cite journal |vauthors=Alt TH |title=Aids to scalp reduction surgery |journal=J Dermatol Surg Oncol |volume=14 |issue=3 |pages=309–15 |date=March 1988 |pmid=3279093 |doi= |url=}}</ref>
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| *The recommended intakes of [[folate]] are 4 mg/d for those at high-risk pregnancies(by virtue of a previous NTD pregnancy outcome) and 0.4 mg/d for all others.<ref name="pmid17209211">{{cite journal |vauthors=Pitkin RM |title=Folate and neural tube defects |journal=Am. J. Clin. Nutr. |volume=85 |issue=1 |pages=285S–288S |date=January 2007 |pmid=17209211 |doi=10.1093/ajcn/85.1.285S |url=}}</ref>
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| ==References== | | ==Case Studies== |
| {{Reflist|2}}
| | [[Spina bifida case study one|Case #1]] |
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| {{WS}}
| | [[Category: (name of the system)]] |
| {{WH}}
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