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Biomedical subjects

W J Oakes

Publications and source records attributed to W J Oakes.

At least 19 recordsLinked to original sources

Chiari I malformation and idiopathic growth hormone deficiency in siblings.

INTRODUCTION: The authors report a case of three brothers. Two of these siblings presented with congenital growth hormone deficiency and Chiari I malformation. The third and younger brother has been found not to have growth hormone deficiency or the Chiari I malformation. RESULTS: Sparse cases of these two clinical occurrences have been reported. Further, the posterior cranial fossa has been determined to be altered in patients with Chiari I malformation and growth hormone deficiency. CONCLUSION: Our current case reports strengthen the association between these two pathological entities and are, to our knowledge, the first description of both defects in siblings.

Arnold-Chiari Malformation↗

Bilateral accessory middle cerebral arteries associated with an aneurysm of the anterior circulation.

An accessory middle cerebral artery is one variation of the intracranial vasculature that may be a source of misinterpretation by clinicians dealing with cerebrovascular diseases. We report a case of an elderly female found to have bilateral accessory middle cerebral arteries, who presented with the rupture of an aneurysm of the anterior part of the circle of Willis. Accessory middle cerebral arteries are rare anatomical findings and the bilateral occurrence is exceedingly rare. We believe this to be the first report of bilateral accessory middle cerebral arteries associated with an aneurysm of the anterior cerebral-anterior communicating arteries. The anatomical and clinical relevance of this variation is described.

Aged↗

The subanconeus muscle.

There is a paucity of information in the extant literature regarding the detailed anatomy of the subanconeus (articularis cubiti) muscle. Our current study seeks to elucidate further the presence, morphology, and potential function of this muscle. Eighteen cadaveric upper extremities underwent dissection of their posterior elbow joint capsule with special attention to any fibres attaching to it from the triceps brachii muscle. We found that all specimens had various amounts of muscular attachment of the medial head of the triceps into the posterior joint capsule. It was noted that the highest concentration of fibres was into the joint capsule near the groove for the ulnar nerve. No specimen was found to have a distinct muscle belly associated with these connections to the joint capsule. On all sides these fibres were simply deeper attachments of the medial head of the triceps brachii muscle. Following tension on these deeper fibres retraction of the joint capsule was not noted but rather compression of the capsule. We would speculate on the basis of our study that these fibres of the medial head of the triceps brachii muscle do not represent a separate muscle per se and do not retract the posterior elbow joint capsule with extension of the forearm as has been theorised. It is possible that compression of the posterior elbow joint capsule from these deeply placed fibres of the triceps brachii restricts the elbow fat pad from being displaced and allows it to cushion the contact made between the olecranon process and the olecranon fossa.

Aged↗

Klippel-Feil anomaly with associated rudimentary cervical ribs in a human skeleton: case report and review of the literature.

Anomalies of the cervical spine are intriguing anatomically and often come to clinical attention. Fusion of one or more cervical vertebral segments, the Klippel- Feil anomaly (KFA), often causes increased motion at the vertebral segments superior to and inferior to the fused level with a resultant premature wear of these joints. We report an adult male skeleton with fusion of his C6 and C7 vertebral bodies (Type II KFA). A remnant of the intervertebral disc space was noted and bilateral rudimentary cervical ribs were observed emanating from the C7 vertebrae. Excessive joint degeneration was noted between the vertebral bodies of C5 and C6. Following our review of the literature and case report, it appears that there is an increased incidence of the presence of cervical ribs in KFA. We review the literature for coexistent KFA and cervical ribs and discuss their dysembryology.

Abnormalities, Multiple↗

The morphology and function of the quadrate ligament.

There is a paucity of information in the literature regarding the quadrate ligament and the information that does exist is extremely conflicting. We dissected 30 cadavers (60 sides) to determine the morphology and function of this enigmatic ligament. A quadrate ligament (thickening of the elbow joint capsule) was found in all specimens. In all specimens this band was distinct from the circumferential fibres of the annular ligament. The length, width, and thickness of the quadrate ligament were found to be 11 mm, 8 mm, and 1 mm respectively. This ligament not only aided in securing the neck of the radius to the ulna but also resisted excessive supination and, to a lesser degree, pronation of the forearm. Following transection of the quadrate ligament, the head of the radius was secured to the ulna considerably less firmly and supination and pronation increased by 10 to 20 degrees and 5 to 8 degrees respectively. The quadrate ligament contributes to proximal radioulnar stability, limits the "spin" of this joint, and should be considered in manipulation, surgery, or imaging of the proximal forearm.

Aged↗

Does a third head of the rectus femoris muscle exist?

Current anatomical texts describe only two tendinous origins of the rectus femoris muscle. The authors identified one older reference in which a third head of the rectus femoris muscle was briefly described. In order to confirm the existence of this head, 48 adult cadavers (96 sides) underwent detailed dissection of the proximal attachments of the rectus femoris muscle. Of these sides 83% were found to harbour a recognised third head of the rectus femoris muscle. This additional head was found to attach deeply to the iliofemoral ligament and superficially with the tendon of the gluteus minimus muscle as it attached into the femur. This tendon attached to the anterior aspect of the greater trochanter in an inferolateral direction compared to the straight head. The mean length and width of the third head was 2 cm and 4 cm, respectively. The mean thickness was found to be 3 mm. Most commonly this third head was bilaterally absent or bilaterally present. However, 4.2% were found only on left sides and 5.2% were found only on right sides. The angle created between the reflected and third heads was approximately 60 degrees. Two sides (both left sides with one female and one male specimen) were found to have third heads that were bilaminar. These bilaminar third heads had a distinct layer attaching to the underlying iliofemoral ligament and a superficial layer blending with the gluteus minimus tendon to insert onto the greater trochanter. Although the function of such an attachment is speculative, the clinician may wish to consider this structure in the interpretation of imaging or in surgical procedures in this region, as in our study it was present on the majority of sides.

Aged↗

Malignant fibrous histiocytoma of the spermatic cord: a case report and review of the literature.

Malignant fibrous histiocytoma (MFH) is a morphologically ill-defined tumour of the soft tissues and may involve nearly every organ of the body. MFH of the spermatic cord represents an extremely rare entity and reports of it in the literature are limited. We report a 69-year-old man found to have a left spermatic cord MFH and retroperitoneal and mediastinal lymphadenopathy, who was treated with radical orchiectomy and adjuvant chemotherapy. The morphological findings of the spermatic tumour are presented and the literature is reviewed to clarify the potential diagnostic/therapeutic approaches and the prognosis related to spermatic cord MFH.

Aged↗

Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10.

Neural tube defects (NTDs) are the second most common birth defects (1 in 1000 live births) in the world. Periconceptional maternal folate supplementation reduces NTD risk by 50-70%; however, studies of folate related and other developmental genes in humans have failed to definitively identify a major causal gene for NTD. The aetiology of NTDs remains unknown and both genetic and environmental factors are implicated. We present findings from a microsatellite based screen of 44 multiplex pedigrees ascertained through the NTD Collaborative Group. For the linkage analysis, we defined our phenotype narrowly by considering individuals with a lumbosacral level myelomeningocele as affected, then we expanded the phenotype to include all types of NTDs. Two point parametric analyses were performed using VITESSE and HOMOG. Multipoint parametric and nonparametric analyses were performed using ALLEGRO. Initial results identified chromosomes 7 and 10, both with maximum parametric multipoint lod scores (Mlod) >2.0. Chromosome 7 produced the highest score in the 24 cM interval between D7S3056 and D7S3051 (parametric Mlod 2.45; nonparametric Mlod 1.89). Further investigation demonstrated that results on chromosome 7 were being primarily driven by a single large pedigree (parametric Mlod 2.40). When this family was removed from analysis, chromosome 10 was the most interesting region, with a peak Mlod of 2.25 at D10S1731. Based on mouse human synteny, two candidate genes (Meox2, Twist1) were identified on chromosome 7. A review of public databases revealed three biologically plausible candidates (FGFR2, GFRA1, Pax2) on chromosome 10. The results from this screen provide valuable positional data for prioritisation of candidate gene assessment in future studies of NTDs.

Chromosomes, Human, Pair 10↗

Dwarfism, occult spinal dysraphism, and presacral myxopapillary ependymoma with an epidermoid cyst in a child.

The authors present a case of a child with dwarfism that was noted to be developmentally delayed. Imaging revealed atlantoaxial instability, occult spinal dysraphism, and a presacral mass. Histopathology of the presacral lesion was that of a myxopapillary ependymoma with epidermoid cyst. We believe this to be the first report in the extant medical literature of this constellation of findings in the same patient. However, there are rare reports indicating a possible association of occult spinal dysraphism and the simultaneous occurrence of spinal ependymomas. Further case reports are necessary to discern whether these pathological entities are true low rate associations that the clinician should consider in their evaluation of these patients.

Cauda Equina↗

Quantitative anatomy of the posterior cricoid region.

The anatomy of the posterior cricoid cartilage region was examined to obtain a better quantitative understanding of this region. The mean height and width of the posterior cricoid cartilage in the midline measured 24.5 mm and 25 mm respectively. The mean distance between the fibres for the left and right posterior cricoarytenoid muscles was 5 mm at the midpoint of the posterior cricoid cartilage. The height of these muscles averaged 19 mm for left sides and 20 mm for right sides. The mean distances from the midpoint and superior midline of the posterior cricoid cartilage to the inferior laryngeal nerve were 14 mm and 15 mm respectively for left sides and 17 mm and 18 mm respectively for right sides. It is hoped that these data will be of use to clinicians performing invasive procedures in this area.

Aged↗

The results of compression forces applied to the isolated human calvaria.

Data for the force necessary to fracture the isolated calvaria (skull cap) are not available in the extant literature. Twenty dry adult calvaria were tested to failure quasistatically at the vertex using a 15-kN load cell. The forces necessary to fracture or cause diastasis of calvarial sutures were then documented and gross examination of the specimens made. Failure forces had a mean measurement of 2772 N. Initial fractures did not cross suture lines. Prior to complete destruction of the calvaria there were 7 specimens in which all sutures of the calvaria became diastatic, 6 specimens in which the calvaria became diastatic along only the coronal sutures, 2 specimens in which the calvaria became diastatic along only the sagittal suture and 5 specimens in which there were diagonal linear parietal bone fractures. Our hopes are that these data may contribute to the structural design of more safer protective devices for use in our society, assist in predicting injury and aid in the construction of treatment paradigms.

Adult↗

Neurological presentation and long-term outcome following operative intervention in patients with meningocele manqué.

We review and describe the neurological presentation and long-term outcome of patients with meningocele manqué, and describe the dysraphic features associated with this entity. Our series of patients was collected over a 25-year period with a mean follow-up of 11.5 years. The mean age of presentation was 10.4 years and 72% of the patients presented with an abnormal neurological examination. At most recent follow-up, symptoms were stable, improved, and progressed in 47, 37 and 16%, respectively. Meningocele manqué was associated with focal hirsutism in 37% of the cases. These bands were primarily found in the lumbar spine and involved two sequential vertebral levels in 42% of cases. Sectioning of meningocele manqué has good long-term results in the majority of patients. These bands should be sought in the evaluation of patients with spinal dysraphism and surgically transected.

Adolescent↗

Spinal neurenteric cysts and their relation to more common aspects of occult spinal dysraphism.

OBJECT: Neurenteric cysts are infrequently reported congenital abnormalities believed to be derived from an abnormal connection between the primitive endoderm and ectoderm. The authors report a series of 13 patients treated over a 50-year period. METHODS: Of the 13 patients, seven were female and six were male. Their ages at presentation ranged widely from 5 weeks to 52 years of age. Children presented more commonly with cutaneous stigmata of occult spinal dysraphism (OSD) whereas adults presented primarily with pain. Neurological deficit as a presenting symptom was less common in our series, a finding that reflects the slow growth of these lesions. In all but one patient some form of vertebral anomaly was associated with the cystic lesions, including two patients with Klippel-Feil abnormalities. There was a high incidence of associated forms of OSD including split cord malformation, lipoma, dermal sinus tract, and tethered spinal cord. In previous reports the authors have suggested that neurenteric cysts are more common in the cervical region and in a position ventral to the cord. In the present series these cysts most commonly occurred as intradural, extramedullary masses in the thoracolumbar region, situated dorsal to the spinal cord. The median follow-up period was 7.5 years, and postoperative outcome reflected a patient's preoperative neurological status; in no patient was outcome worsened due to surgery. CONCLUSIONS: Complete excision of the neurenteric cyst remains the treatment of choice, as subtotal excision is associated with recurrence.

Adolescent↗

Dermal sinus tracts of the spine.

Dermal sinus tracts in the spine range from asymptomatic pits to tracts with significant disease. These tracts may be associated with lesions that tether the spinal cord and can either become infected or produce neurological deficits. Over time the treatment of these lesions has varied little: complete resection and intradural exploration are the standard surgical interventions. The authors review their experience with 23 dermal sinus tracts treated in the last 19 years by the senior author. The clinical findings, radiographic appearance, treatment, and pathological findings of these lesions will be discussed. The authors will also provide a summary of the literature covering these lesions.

Adolescent↗

Congenital tethered spinal cord syndrome in adults.

OBJECT: The management of tethered cord syndrome with onset of symptomatology occurring in adulthood remains controversial, although the necessity of early surgery in the pediatric tethered cord syndrome population is well established. To ascertain the results of surgery in adult patients with this anomaly, the authors undertook a retrospective review of 34 cases. METHODS: The authors studied the hospital records of 34 consecutive patients who presented in adulthood with tethered cord syndrome and conducted follow-up phone interviews with 28 of them. The population consisted of 12 men and 22 women, ranging in age from 18 to 70 years (mean 34 years). The most common presenting feature was pain, followed by weakness and incontinence. All patients underwent surgery. The most common operative findings were tight filum terminale, split cord malformation, and lipomyelomeningocele, paralleling those observed in pediatric studies. Long-term surgical results and patient outcome ratings were encouraging. After a mean clinical follow-up period of 4 years, significant improvement occurred in 22 of 27 patients presenting with pain, 13 of 27 patients with motor or sensory dysfunction, and 11 of 18 patients with bowel and bladder disturbance. In addition, telephone interviews were obtained after a period of 8.6 years. Twenty-two (79%) of 28 patients called the operation a long-term success; 21 (75%) of 28 patients believed that they had significant postoperative improvement (and not just stabilization) in pain and/or neurological function. Surgical complications were generally minor. Surgery-related complications included one cerebrospinal fluid leak and five pseudomeningoceles. Two patients complained of worsening motor or sensory dysfunction and one of worsening bladder dysfunction, whereas four patients experienced persistent pain and one complained of worsening pain postoperatively. According to the patients, the vast majority of these complications were minor. Nineteen (86%) of 22 employed patients returned to work after surgery. Two (33%) of six patients who were not employed before surgery worked full time postoperatively. Only two of the 28 patients interviewed had received Workers' Compensation benefits; both of these had good outcomes and returned to work. CONCLUSIONS: Tethered spinal cord syndrome in adults is an uncommon entity that can become symptomatic. Although surgery in adults involves greater risk of neurological injury than in children, it is a low-risk procedure with encouraging results. Because neurological deficits are generally irreversible, early surgery is recommended.

Adolescent↗

Can prenatal ultrasound findings predict ambulatory status in fetuses with open spina bifida?

OBJECTIVE: To determine whether prenatal sonographic findings in fetuses with open spina bifida can predict ambulatory potential and the need for postnatal shunt placement. STUDY DESIGN: Ongoing pregnancies complicated by isolated open spina bifida from January 1996 to March 2000 were studied retrospectively. Static images and reports generated every 3-4 weeks from diagnosis until delivery were reviewed for lesion level and type, ventricular width, and lower extremity appearance. Operative summaries as well as neonatal and pediatric charts were reviewed. Ambulatory was defined in infants > or =2 years old as walking with or without appliances. In those <2 years of age, ambulatory was defined as at least 4/5 lower extremity muscle strength. RESULTS: Thirty-three cases of isolated open spina bifida were identified. Lower (more caudal) lesion levels and smaller ventricular size were associated with ambulatory status in univariate analyses (P <.001, P =.003, respectively). No infant with a thoracic lesion was ambulatory (n = 11); all had ventriculomegaly diagnosed prenatally and all required shunt placement. In contrast, all infants with L4-sacral lesions (n = 10) were ambulatory, and 60% had ventriculomegaly diagnosed prenatally. Of patients with L1-L3 lesions (n = 12), 50% were ambulatory. In this group, ambulatory potential could not be determined by the presence of ventriculomegaly, ventricular size, or the presence of club foot. In the entire cohort, no infant with a myeloschisis was ambulatory, and all infants except one with a sacral lesion required postnatal shunt placement. CONCLUSIONS: Sonographic determination of lesion level and type is useful in predicting the ambulatory potential of fetuses with open spina bifida.

Cerebrospinal Fluid Shunts↗

Analysis of the posterior fossa in children with the Chiari 0 malformation.

OBJECTIVE: We previously reported the resolution of syringohydromyelia without cerebellar tonsillar ectopia in five patients after posterior fossa decompression of the so-called Chiari 0 malformation. A sixth patient is described. In this study, the anatomy of the posterior fossa is analyzed using radiological imaging, enabling features of the posterior fossa in this uncommon subgroup of children to be characterized. METHODS: Multiple measurements were made on magnetic resonance imaging studies in six children with Chiari 0 malformation to determine the position of the brainstem relative to the foramen magnum. Fifty children with normal magnetic resonance imaging studies of the brain were used as controls. RESULTS: All children with a Chiari 0 malformation were found to have the following positive results: obices that were located more than 2 standard deviations below normal, an increase in the anteroposterior midsagittal distance of the spinomedullary junction at the level of the foramen magnum, an increase in the angle between the floor of the fourth ventricle and clivus, and an increase in the anteroposterior midsagittal distance of the foramen magnum. CONCLUSION: The findings of this study suggest that the contents of the posterior fossa are indeed compromised and/or distorted in patients with syringohydromyelia but no tonsillar ectopia. In this group, the brainstem was caudally displaced more than 3 standard deviations below normal.

Adolescent↗

Preliminary observations on the association between simple metopic ridging in children without trigonocephaly and the Chiari I malformation.

Historically, there have been no accounts of an association between simple metopic ridging and the Chiari I malformation. We prospectively evaluated 50 children with simple metopic ridges and found that 30% of these patients had a Chiari I malformation. During the period in which this screening for simple metopic ridges was performed, only 9% of the total patient population (324) was diagnosed as having a Chiari I malformation. We hypothesize that small decreases in anterior fossa volume in children with a simple metopic ridge and no other clinical findings of trigonocephaly may increase their chance of having a Chiari I malformation that becomes symptomatic. In addition, simple metopic ridging should perhaps be added to the list of bony anomalies associated with the Chiari I malformation, such as atlantal assimilation and retroverted odontoid processes. Future studies aimed at calculating anterior fossa volumes in children with a Chiari I malformation and imaging all children with simple metopic ridges are now necessary to ascertain if there is an increased risk of these patients becoming symptomatic with a hindbrain hernia or having a hindbrain hernia, respectively.

Adolescent↗