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| __NOTOC__ | | __NOTOC__ |
| | {{Spina bifida}} |
| | {{CMG}}; {{AE}}, {{MMJ}}, {{M.B}} |
| | ==[[Spina bifida overview|Overview]]== |
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| {{CMG}}{{AE}}{{MMJ}}
| | ==[[Spina bifida historical perspective|Historical Perspective]]== |
| ==Classification== | |
| *Spina bifida may be classified according to the level of the lesion into 3 subtypes:<ref name="pmid2782071">{{cite journal |vauthors=Lannering B, Albertsson-Wikland K |title=Improved growth response to GH treatment in irradiated children |journal=Acta Paediatr Scand |volume=78 |issue=4 |pages=562–7 |date=July 1989 |pmid=2782071 |doi= |url=}}</ref><ref name="pmid7814582">{{cite journal |vauthors=Swank M, Dias LS |title=Walking ability in spina bifida patients: a model for predicting future ambulatory status based on sitting balance and motor level |journal=J Pediatr Orthop |volume=14 |issue=6 |pages=715–8 |date=1994 |pmid=7814582 |doi= |url=}}</ref>
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| :#[[Thoracic]], high-[[lumbar]]
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| :#*Lack of [[Quadriceps muscle|quadriceps]] function
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| :#Low-[[lumbar]]
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| :#*Lack [[Gluteus medius muscle|gluteus medius]] and [[Gluteus maximus muscle|maximus]] function
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| :#*Retain [[Quadriceps muscle|quadriceps]] and [[Hamstrings|medial hamstring]] function
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| :#[[Sacral]]
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| :#*Lack [[Gastrocnemius muscle|gastrocnemius-]][[Soleus muscle|soleus]] function in high [[sacral]] lesions
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| :#*Retain [[Gastrocnemius muscle|gastrocnemius]]-[[soleus]] function in low [[Sacrum|sacral]] lesions
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| :* Spina bifida also may be classified according to the tyoe of the vertebrate defect into 2 subtypes:<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><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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| :*# [[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]].
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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.
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| :* Meningocele is a protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the [[vertebral column]].
| | ==[[Spina bifida classification|Classification]]== |
| :* Myelomeningocele is the most severe form of spina bifida. It happens when both the meninges and the bottom end of the spinal cord push through the hole in the spine, forming a large fluid-filled sac that bulges out of a patients back.
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| ==Pathophysiology== | | ==[[Spina bifida pathophysiology|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 causes|Causes]]== |
| * 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 differential diagnosis|Differentiating Spina bifida from other Diseases]]== |
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| ==Risk Factors== | | ==[[Spina bifida epidemiology and demographics|Epidemiology and Demographics]]== |
| *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 risk factors|Risk Factors]]== |
| *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 screening|Screening]]== |
| ===Diagnostic Criteria===
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| *The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met:
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| :*[criterion 1]
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| :*[criterion 2]
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| :*[criterion 3]
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| :*[criterion 4]
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| === 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 natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| :**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 === | | ==Diagnosis== |
| *There are no specific laboratory findings associated with [disease name].
| | [[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]] |
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| *A [positive/negative] [test name] is diagnostic of [disease name].
| | ==Treatment== |
| *An [elevated/reduced] concentration of [serum/blood/urinary/CSF/other] [lab test] is diagnostic of [disease name].
| | [[Spina bifida medical therapy|Medical Therapy]] | [[Spina bifida surgery|Surgery]] | [[Spina bifida primary prevention|Primary Prevention]] |
| *Other laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
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| ===Imaging Findings===
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| *There are no [imaging study] findings associated with [disease name].
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| *[Imaging study 1] is the imaging modality of choice for [disease name].
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| *On [imaging study 1], [disease name] is characterized by [finding 1], [finding 2], and [finding 3].
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| *[Imaging study 2] may demonstrate [finding 1], [finding 2], and [finding 3].
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| === Other Diagnostic Studies ===
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| *[Disease name] may also be diagnosed using [diagnostic study name].
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| *Findings on [diagnostic study name] include [finding 1], [finding 2], and [finding 3].
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| == Treatment == | |
| === Medical Therapy ===
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| *There is no treatment for [disease name]; the mainstay of therapy is supportive care.
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| *The mainstay of therapy for [disease name] is [medical therapy 1] and [medical therapy 2].
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| *[Medical therapy 1] acts by [mechanism of action 1].
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| *Response to [medical therapy 1] can be monitored with [test/physical finding/imaging] every [frequency/duration].
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| === Surgery ===
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| *Surgery is the mainstay of therapy for [disease name].
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| *[Surgical procedure] in conjunction with [chemotherapy/radiation] is the most common approach to the treatment of [disease name].
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| *[Surgical procedure] can only be performed for patients with [disease stage] [disease name].
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| === Prevention ===
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| *There are no primary preventive measures available for [disease name].
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| *Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
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| *Once diagnosed and successfully treated, patients with [disease name] are followed-up every [duration]. Follow-up testing includes [test 1], [test 2], and [test 3].
| | ==Case Studies== |
| ==References== | | [[Spina bifida case study one|Case #1]] |
| {{Reflist|2}}
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| [[Category:Pick One of 28 Approved]] | |
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| {{WS}}
| | [[Category: (name of the system)]] |
| {{WH}}
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