Suresh mukherji michigan state university (msu) researchgate anoxic brain injury symptoms

Objective:

To determine whether patients with semicircular canal dysplasia have mutations in CHD7.

Background:

CHARGE syndrome is a nonrandom clustering of congenital anomalies, including ocular coloboma, heart defects, choanal atresia or stenosis, retarded growth and development, genital hypoplasia, and inner and outer ear anomalies including deafness. Semicircular canal dysplasia has been included as a major diagnostic criterion for CHARGE syndrome. Mutations in the gene CHD7 on chromosome 8q12.1 are a major cause of CHARGE syndrome, but the extent to which patients with semicircular canal dysplasia have CHD7 mutations is not fully understood.


Study design:

Cross-sectional analysis of CHD7 in 12 patients with semicircular canal dysplasia and variable clinical features of CHARGE syndrome.Anoxic brain injury symptoms

Results:

We identified 6 CHD7 mutations, 5 of which occurred in patients who fulfilled verloes’ diagnostic criteria for typical CHARGE syndrome, and three of which were previously unreported. Of the 3 remaining CHD7 mutation-positive patients, one had atypical CHARGE by diagnostic criteria. Four MRI records were available, which revealed 2 patients with cochlear nerve aplasia and 1 patient with chiari 1 malformation.

Conclusion:

These data provide additional evidence that CHD7 mutations are a significant cause of semicircular canal atresia in children with full or partial CHARGE syndrome.

The study goals were (1) to determine if the degree and pattern of semicircular canal dysmorphology and the presence or absence of a cochlea in patients with congenital sensorineural hearing loss predict audiologic outcome, severity, or the frequencies involved and (2) to review the recent advances in molecular genetics of the semicircular canals and correlate this information with audiologic and anatomic patterns seen in our series of patients.Anoxic brain injury symptoms

We conducted a retrospective study at a tertiary care center with a large otologic and cochlear implant service.

The study population consisted of 16 patients with congenital sensorineural hearing loss in 28 congenitally malformed inner ears consisting of semicircular canal dysplasia or aplasia, with or without cochlear malformation. History, physical examination, computed tomography scans, and serial audiograms were reviewed. Factors analyzed included other phenotypic dysmorphology characteristic of syndromes, audiometric configuration, severity and type of hearing loss, and the presence of associated inner ear anomalies other than the vestibular system. An extensive review of the literature regarding molecular genetic factors in semicircular canal anomalies, with or without cochlear abnormalities, was performed.Anoxic brain injury symptoms

Sixteen patients (31 ears) were identified with profound sensorineural hearing loss and semicircular canal abnormalities. Only 3 patients had known syndromes, although 4 patients had other congenital anomalies. Most radiographic detectable abnormalities were bilateral. Audiograms of the patients demonstrated pure tone averages between 90 and 100 db in the affected ears with few exceptions. No correlation was found between type and severity of malformation of either the cochlea or semicircular canals with the severity of hearing loss. There was no stepwise progression of hearing loss increasing malformation severity. Seven of the 16 patients received cochlear implants. Of these 7, 3 patients had cochlear hypoplasia and 1 patient had a common cavity deformity.Anoxic brain injury symptoms audiologic follow-up on all 7 patients revealed improvement in both speech assessment threshold and pure tone average. Presence or absence of the cochlea was not a factor in outcome after cochlear implantation.

We have assembled the largest series of patients with semicircular canal dysmorphology, with or without various cochlear abnormalities. Our study failed to correlate the type and severity of semicircular canal malformation with any specific audiologic outcome. The variation in hearing loss severity and pattern even in patients with similar bony radiographic findings must be explained by other non-radiologically detectable defects, likely abnormalities in membranous labyrinthine development.Anoxic brain injury symptoms new molecular genetic discoveries have linked specific genes to the development of certain inner ear structures in mice studies. The independent development of the individual semicircular canals in relation to the cochlea and vestibule and the variability in hearing loss suggest a more complex embryologic process than merely an arrest in development as previously thought. As genetic studies are extended into humans, we will likely be able to stratify these patients by molecular defect and severity of hearing loss.

Androgen-responsive cells: to determine if testosterone or dihydrotestosterone is the main trophic hormone of prostatic adenocarcinoma, we have treated dunning R3327H prostatic adenocarcinoma-bearing rats with 6-methylene progesterone, which blocks conversion of testosterone to dihydrotostesterone.Anoxic brain injury symptoms copenhagen-fisher rats were treated with steroid (20 mg/kg daily) immediately following implantation of tumor and thereafter for 117 days. There was a 92% inhibition of growth of tumors and a lesser effect upon prostate and seminal vesicles. Tumor-free body weights remained unchanged. Both treated and untreated tumors had equivalent DNA content on a per weight basis. This result supports the thesis that prostatic adenocarcinoma requires dihydrotestosterone for growth.

Androgen-insensitive cells: advanced prostate cancer does not respond to endocrine therapy but is temporarily controlled by the cytotoxic steroid estramustine. The latter shows significant selective binding to prostatic protein.Anoxic brain injury symptoms

To develop chemotherapeutic agents that will control androgen-insensitive cells and possess improved selectivity for prostatic protein, we have studied a number of steroids for their ability to displace 3H-labeled estramustine from prostatic cytosolic proteins. Surprisingly, a carbamide substituent at the C17 position was found to confer significant binding affinity for prostatic estramustine-binding protein. Extension of this structural characteristic to the estramustine type of molecule is being studied.

OBJECTIVES. The purpose of this study was to characterize the MR signal intensity of the cerebral cortex in children and to determine if the cortex is abnormal on MR images of patients with anoxia at birth (defined as persistent 02 saturation of less than 80% and requiring intubatlon or assisted ventilation for more than 24 hr).Anoxic brain injury symptoms SUBJECTS AND METHODS. MR imaging was done in I 0 patients with no history of anoxia and in nine patients with a history of anoxia. The T2 and ti signals from the central gyri, the pre- and postcentral gyri, and the calcarine and insular regions of the gray matter were visually graded according to their intensity and to the degree that the low and high signal intensity each involved the entire length of that region. RESULTS. Low T2-signal intensity from the central gyri, the pro- and postcentral gyri, and the calcarine and insular regions of the gray matter was present on MR images made in patients without a history of anoxia and was absent in patients with a history of anoxia. High ti-signal intensity was seen in the central gyri in patients without a history of anoxia.Anoxic brain injury symptoms patients aged i year or older with a history of anoxia had no MR signal differ- ences in any gray-matter region on either ti- or T2-weighted images. CONCLUSION. Low T2-signal intensity was seen in the central gyri, the pre- and postcentral gyri, and the calcarine and insular regions of the gray matter on MR images of patients with no history of anoxia but was not seen in those with a history of anoxia. Loss of the normal cortical T2 hypointensity may aid in establishing the diagnosis of anoxic brain injury.