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At least 1,279 records · Page 71Linked to original sources
PubMed2001

Association between lower hair zinc levels and neural tube defects.

Though folic acid supplementation has reduced the incidence of Neural Tube Defects (NTD), NTD still constitutes one of the important congenital malformations having wide medical, social and ethical implications. Zinc deficiency has been reported to produce NTD in animals. This study was designed to evaluate zinc status of the newborn babies with NTD and their mothers. Eighty newborn babies with NTD and their mothers served as cases. Eighty apparently normal newborn babies and their mothers served as controls. Serum and scalp hair zinc levels were analyzed by atomic absorption spectrophotometry. The mean (+/- SD) serum and hair levels in normal mothers were 74.1 +/- 4.1 micrograms/dl and 142.3 +/- 8.0 micrograms/g respectively. The mean (+/- SD) serum and hair levels of the mothers who delivered NTD babies were 75.7 +/- 5.6 micrograms/dl and 129.9 +/- 5.3 micrograms/g respectively. The mean (+/- SD) serum and hair levels in normal newborn babies were 77.8 +/- 5.3 micrograms/dl and 188.8 +/- 6.2 micrograms/g respectively. The mean (+/- SD) serum and hair levels in NTD babies were 80.1 +/- 12.9 micrograms/dl and 174.2 +/- 10.7 micrograms/g respectively. The hair zinc levels of the affected babies and their mothers were significantly lower (P < 0.001) than the controls. This study has found association between NTD and decreased hair zinc levels and large population based studies are recommended to confirm the association between zinc and NTD and to investigate whether zinc supplementation would reduce the overall incidence of NTD.

Developing Countries↗
PubMed2002

[Spontaneous defects of the lateral cranial base. 1. Clinical aspects, diagnosis and therapy].

BACKGROUND: Spontaneous cerebrospinal fluid otorrhea (SCFO) or rhinorrhea originating from laterobasal defects is uncommon. An immediate closure of the defect is mandatory due to the risk of life-threatening meningitis. The purpose of this paper is to review the literature and to present two additional case reports with emphasis on diagnostic problems and surgical techniques. PATIENTS AND METHODS: Two adults have been treated for SCFO in our clinic. A 62-year-old woman was complaining of pertinent otorrhea after placement of a ventilation tube and conservative treatment of serous otitis for 1 year elsewhere. A 66-year-old male patient had been treated for acute pneumococcal meningitis. He presented with unilateral deafness and vertigo 3 months later. High-Resolution-Computer-Tomography (HRCT) revealed a unilateral defect in the female and a bilateral defect in the male patient. A transmastoidal approach was used to amputate the meningoencephalocele and modified (Mini-Craniotomy) in the second (male) patient. The defect was closed in two layers using allogenic material and fibrin glue. RESULTS: One year after surgery both patients were free of symptoms and defect closure remained stable in HRCT and under microscopic view. CONCLUSIONS: SCFO from tegment defects is an uncommon cause of otorrhea and even rhinorrhea. History and clinical presentation of our patients can be regarded as typical for adults with SCFO. Evaluation of history, HRCT and a high index of suspicion is a prerequisite for correct diagnosis. The approach (transmastoidal, transtemporal, Mini-Craniotomy) to repair leaks of the tegmen should be related to the extent of the defect.

Aged↗
PubMed2003

[The role of high-resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) in the diagnosis of preoperative and postoperative complications caused by acquired cholesteatomas].

The role of high-resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) in the diagnosis of preoperative and postoperative complications caused by acquired cholesteatomas will be described in this paper. The pre- and postoperative imaging of the temporal bone was performed with HRCT and MRI.HRCT and MRI were performed in the axial and coronal plane. MRI was done with T2 weighted and T1 weighted sequences both before and after the intravenous application of contrast material. All imaging findings were confirmed clinically or surgically. The preoperative cholesteatoma-caused complications depicted by HRCT included bony erosions of the ossicles, scutum, facial canal in the middle ear, tympanic walls including the tegmen tympani, and of the labyrinth. The preoperative cholesteatoma-caused complications depicted by MRI included signs indicative for labyrinthitis, and brain abscess. Postoperative HRCT depicted bony erosions caused by recurrent cholesteatoma,bony defects of the facial nerve and of the labyrinth, and a defect of the tegmen tympani with a soft tissue mass in the middle ear. Postoperative MRI delineated neuritis of the facial nerve, labyrinthitis, and a meningo-encephalocele protruding into the middle ear. HRCT and MRI are excellent imaging tools to depict either bony or soft tissue complications or both if caused by acquired cholesteatomas. According to our findings and to the literature HRCT and MRI are complementary imaging methods to depict pre- or postoperative complications of acquired cholesteatomas if these are suspected by clinical examination.

Brain Abscess↗
PubMed2003

Lumbar nerve root avulsion following trauma: balanced fast field-echo MRI.

Lumbosacral nerve root avulsion uncommonly complicates major trauma. Most patients also have pelvic or lumbar fractures. We present a patient who had a high-velocity vehicle accident with traumatic hip dislocation without fractures of the spine or pelvis. MRI demonstrated lumbosacral traumatic pseudomeningoceles. We used balanced fast field echo and MR myelography to make the diagnosis and show the extent of the pseudomeningocele.

Adult↗
PubMed2000

Intracranial venous anomalies associated with atretic cephalocoeles.

BACKGROUND: Midline scalp lesions are frequent in children. They include soft-tissue masses and atretic meningocoeles. Their recognition is important as their treatment differs. Intracranial venous anomalies are known to be associated with atretic cephalocoeles. MATERIALS AND METHODS: A retrospective study was undertaken to assess the frequency of intracranial venous anomalies associated with atretic meningocoeles (AT). Thirty-one patients with AT were studied by MRI. There were 13 meningocoeles and 14 encephalocoeles; 4 have not yet received surgery. RESULTS: Venous anomalies were found when the cephalocoeles lay above the torcular. They include absence of the straight sinus and duplication of the longitudinal sinus. CONCLUSION: Venous anomalies are frequent in atretic cephalocoeles and are part of the dysraphic state.

Arteriovenous Malformations↗
PubMed1997

Magnetic resonance detection of myelodysplasia in children with Currarino triad.

PURPOSE: To evaluate the role of MRI in the detection of myelodysplasia in children with Currarino triad. MATERIALS AND METHODS: Six patients (two girls, four boys, aged 7 months-14 years, mean age 6 years) were studied with MRI, voiding cystourethrogram and barium enema or fistulography. CT and ultrasonography were also performed in two patients. RESULTS: All patients presented with partial agenesis of the sacrum. Three patients suffered from an intermediate form of anorectal malformation (ARM) and three had a high form of ARM. The presacral masses consistent with Currarino triad included anterior meningocoele in three patients, lipoma in two patients and anterior lipomeningocoele in one patient. MRI diagnosed tethering of the spinal cord in four of six patients. The tethering of the spinal cord was due to a lipomeningocoele in one patient, an intradural lipoma in one patient and a lipoma of the filum in two patients. CONCLUSION: The association of Currarino triad with tethered spinal cord seems more common than generally reported in the literature. Preoperative MRI of the lumbosacral spine is essential to detect significant myelodysplasia in all patients with Currarino triad.

Adolescent↗
PubMed2002

Intradiploic meningoencephalocele.

We report on a 36-year-old patient who presented with coordinative problems in his right leg. The MRI study of his brain showed the extremely rare intradiploic meningoencephalocele which explained his symptoms. Most cephaloceles are inborn developmental disturbances and present with symptoms of different severity depending on the degree of associated malformations in early childhood. They usually demand immediate treatment. In the patient presented here the cephalocele belongs to the rare type of intradiploic meningoencephalocele. This is a variant of the intradiploic cerebrospinal fluid cyst and of traumatic instead of developmental origin.

Adult↗
PubMed2002

Transsphenoidal meningoencephalocele.

BACKGROUND: Encephaloceles are rare cranio-facial developmental anomalies. CASE REPORT: In this paper, we discuss the case of an 8-month-old girl affected by a transsphenoidal meningoencephalocele and try to give landmarks of the state of art in the surgical treatment of this rare pathology.

Abnormalities, Multiple↗
PubMed1999

Cephaloceles and abnormal venous drainage.

Seven cases of parietal cephalocele and three cases of occipital cephalocele associated with abnormal venous drainage were evaluated, and the mechanism of the development for venous system was discussed from the embryological viewpoint. In parietal cephaloceles the abnormally draining vein, which corresponds to the straight sinus, ascended along the interhemisphere apart from the tentorium and emptied into the superior sagittal sinus below the cephalocele. The superior sagittal sinus formed the confluence, which was positioned high up. Intraoperative findings revealed that cephalocele penetrated the superior sagittal sinus at the midline. In the case of occipital cephalocele, the straight sinus followed a postero-superior course, to drain into the confluence just above the neck of cephalocele. The results of our study suggest that the causation of abnormal venous drainage in the great vein of Galen, the straight sinus and the superior sagittal sinus may be secondary, through interaction with a developmentally pre-existing cephalocele.

Brain↗
PubMed1998

Currarino's triad: an unusual cause of constipation in children.

A 6-year-old girl presented with intractable constipation. On investigation, she was found to have an association of anorectal stenosis, anterior sacral defect, and anterior meningocoele (Currarino's triad). The meningocoele was excised and a Duhamel pull-through procedure performed after resection of a massively distended rectosigmoid. Post-operatively, she started having spontaneous bowel action. Early diagnosis and management is recommended to avoid the high mortality and morbidity associated with this condition.

Abnormalities, Multiple↗
PubMed2005

SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects.

Neural tube defects (NTDs) are common birth defects, occurring in approximately 1/1,000 births; both genetic and environmental factors are implicated. To date, no major genetic risk factors have been identified. Throughout development, cell adhesion molecules are strongly implicated in cell-cell interactions, and may play a role in the formation and closure of the neural tube. To evaluate the role of neural cell adhesion molecule 1 (NCAM1) in risk of human NTDs, we screened for novel single-nucleotide polymorphisms (SNPs) within the gene. Eleven SNPs across NCAM1 were genotyped using TaqMan. We utilized a family-based approach to evaluate evidence for association and/or linkage disequilibrium. We evaluated American Caucasian simplex lumbosacral myelomeningocele families (n=132 families) using the family based association test (FBAT) and the pedigree disequilibrium test (PDT). Association analysis revealed a significant association between risk for NTDs and intronic SNP rs2298526 using both the FBAT test (P=0.0018) and the PDT (P=0.0025). Using the HBAT version of the FBAT to look for haplotype association, all pairwise comparisons with SNP rs2298526 were also significant. A replication study set, consisting of 72 additional families showed no significant association; however, the overall trend for overtransmission of the less common allele of SNP rs2298526 remained significant in the combined sample set. In addition, we analyzed the expression pattern of the NCAM1 protein in human embryos, and while NCAM1 is not expressed within the neural tube at the time of closure, it is expressed in the surrounding and later in differentiated neurons of the CNS. These results suggest variations in NCAM1 may influence risk for human NTDs.

Gene Expression Regulation, Developmental↗
PubMed2002

Intraspinous postlaminectomy pseudomeningocele.

Pseudomeningoceles are uncommon complications of lumbar surgery. They are encapsulated cerebrospinal fluid collections developing extradurally as a consequence of incidental dural tears. They are typically located in the paraspinal compartment and occasionally reach the subcutaneous space. We describe the case of a patient in whom a postlaminectomy pseudomeningocele developed over a 10-year period within the L5 spinous process and remained completely encircled within its bony boundaries. The surgical implications of this finding are discussed.

Adult↗