Kenneth Huff - Academia.edu (original) (raw)

Papers by Kenneth Huff

Academic Emergency Medicine Official Journal of the Society For Academic Emergency Medicine, Oct 1, 2003

Objectives: To develop and validate a practical outcome instrument applicable to a broad range of... more Objectives: To develop and validate a practical outcome instrument applicable to a broad range of neurologic deficits in children. Methods: Reliability testing of a draft version of the Neurologic Outcome Scale for Infants and Children (NOSIC) in 100 children with a wide range of ages and levels of neurologic function was performed. After review of the reliability data by a panel of experts, the NOSIC was revised. Validity and reliability testing of the final NOSIC was performed in a new population of 157 children, 52 with cerebral palsy, motor delay, or language delay. Interrater reliability was assessed using Spearman rank correlation coefficients of two investigators' scores. NOSIC scores were correlated with scores on criterion-standard neuropsychological tests to assess validity. Results: The median NOSIC score for normal children was 98, interquartile range 96-100; the median score for abnormal children was 87, interquartile range 58-96. Interrater reliability of the NOSIC scores of 84 patients rated by both raters demonstrated excellent reliability ( r ¼ 0.77, 95% confidence interval [CI] ¼ 0.62 to 0.88). Correlation of the NOSIC scores of the 127 patients who had neuropsychological testing with applicable criterion standards was r ¼ 0.63, 95% CI ¼ 0.50 to 0.74. Conclusions: The NOSIC is a practical, reliable, valid, instrument applicable to infants and children with a broad range of neurologic deficits. It should be a useful research tool when neurologic function is an important outcome measure.

The Journal of Cell Biology, 1981

PC12 cells, which differentiate morphologically and biochemically into sympathetic neuronlike cel... more PC12 cells, which differentiate morphologically and biochemically into sympathetic neuronlike cells in response to nerve growth factor, also respond to epidermal growth factor . The response to epidermal growth factor is similar in certain respects to the response to nerve growth factor . Both peptides produce rapid increases in cellular adhesion and 2-deoxyglucose uptake and both induce ornithine decarboxylase . But nerve growth factor causes a decreased cell proliferation and a marked hypertrophy of the cells. In contrast, epidermal growth factor enhances cell proliferation and does not cause hypertrophy . Nerve growth factor induces the formation of neurites ; epidermal growth factor does not.

Science Activities: Classroom Projects and Curriculum Ideas, 2012

In this interdisciplinary and field-based activity, grade 5 to 9 students engage in a comprehensi... more In this interdisciplinary and field-based activity, grade 5 to 9 students engage in a comprehensive scientific study of snow. Through a series of in-class and out-of-class structured interdisciplinary and team-teaching lesson progressions, students will collect data to be able to analyze and apply knowledge about weather, the physical properties of snow, and the structure of matter that will increase understanding

Clinical nuclear medicine, 2002

Annals of emergency medicine, 2004

We determine the efficacy of prophylactic phenytoin in preventing early posttraumatic seizures in... more We determine the efficacy of prophylactic phenytoin in preventing early posttraumatic seizures in children with moderate to severe blunt head injury. Children younger than 16 years and experiencing moderate to severe blunt head injury were randomized to receive phenytoin or placebo within 60 minutes of presentation at 3 pediatric trauma centers. The primary endpoint was posttraumatic seizures within 48 hours; secondary endpoints were survival and neurologic outcome 30 days after injury. A Bayesian decision-theoretic clinical trial design was used to determine the probability of remaining posttraumatic seizure free for each treatment group. One hundred two patients were enrolled, with a median age of 6.1 years. Sixty-eight percent were boys. The 2 treatment groups were well matched. During the 48-hour observation period, 3 (7%) of 46 patients given phenytoin and 3 (5%) of 56 patients given placebo experienced a posttraumatic seizure. There were no significant differences between the ...

The Journal of Cell Biology, 1981

PC12 cells, which differentiate morphologically and biochemically into sympathetic neuronlike cel... more PC12 cells, which differentiate morphologically and biochemically into sympathetic neuronlike cells in response to nerve growth factor, also respond to epidermal growth factor . The response to epidermal growth factor is similar in certain respects to the response to nerve growth factor . Both peptides produce rapid increases in cellular adhesion and 2-deoxyglucose uptake and both induce ornithine decarboxylase . But nerve growth factor causes a decreased cell proliferation and a marked hypertrophy of the cells. In contrast, epidermal growth factor enhances cell proliferation and does not cause hypertrophy . Nerve growth factor induces the formation of neurites ; epidermal growth factor does not.

Pediatric Neurology, 2010

Acute flaccid paralysis is a standard outcome for detection of poliomyelitis globally and an ongo... more Acute flaccid paralysis is a standard outcome for detection of poliomyelitis globally and an ongoing potential vaccine-associated adverse event concern for polio, influenza, and meningococcal vaccines. No systematic population-based data on the epidemiologic and clinical features of this condition, or its potential association with immunization, have been reported from the United States. The present retrospective cohort study of acute flaccid paralysis in the Southern and Northern California Kaiser Permanente Health Care Plans was conducted using computerized diagnosis data and medical record review of potential cases among children aged 1 month to <15 years and diagnosed from January 1, 1992 through December 31, 1998. In all, 3297 potential cases were identified; of these, 2682 cases (81%) did not meet the case definition, and of the remaining 615 cases, 245 (7% of the total) were included. The incidence of disease was 1.4 per 100,000 children/year (95% confidence interval = 1.2-1.6); predicting approximately 844 children/year in the United States. Disease incidence did not vary with season or sex, varied inversely with age, and declined 28% during the study period. No cases of vaccine-associated acute flaccid paralysis were identified. In nonendemic countries, ongoing acute flaccid paralysis surveillance is often conducted, because of the risk of poliovirus importation, but this practice may be difficult to justify, given low disease incidence and breadth of clinical presentation.

Pediatric Neurology, 1999

A 14-year-old female with tuberous sclerosis and history of seizures was found dead in bed at hom... more A 14-year-old female with tuberous sclerosis and history of seizures was found dead in bed at home 3 days after she had been assessed as doing well at a routine neurology clinic appointment. She had been treated with an antiepileptic drug, felbamate, for 36 months and had been seizure-free except for one seizure episode 5 months before death. Postmortem examination revealed cerebral edema, with uncal and tonsillar herniation, and pulmonary edema, consistent with seizure-induced apnea. Multiple microglial nodules with mature perivascular lymphocytic cuffing and diffuse infiltrates were identified around subependymal tuberous sclerosis giant cell nodules. Immunostaining and electron microscopy revealed human herpesvirus-6 -infected macrophages, astrocytes, lymphocytes, and endothelial cells in the subependymal tuberous sclerosis lesions and choroid plexus. Subacute human herpesvirus-6 encephalitis is postulated to have precipitated a seizure and thus sudden unexpected death in epilepsy in this otherwise stable adolescent patient. © 1999 by Elsevier Science Inc. All rights reserved.

The Pediatric Infectious Disease Journal, 2006

Journal of the Optical Society of America A, 1987

Detective quantum efficiency provides a useful measure of the imaging efficiency of imaging syste... more Detective quantum efficiency provides a useful measure of the imaging efficiency of imaging systems. Methods for measuring the exposure and the spatial-frequency dependence of the contrast transfer function, the noise power spectrum, and the detective quantum efficiency are developed for x-ray imaging systems. These are applied to a high-resolution screen-film combination exposed to a 30-kV-peak x-ray spectrum. The major component sources of screen-film noise in this system are identified and quantified. These are interpreted in terms of a simple model to predict the screen-film noise power spectrum and detective quantum efficiency. Reasonable agreement is found between model predictions and experimental measurements.

Mucosal Immunology, 2011

Extracellular matrix (stroma) regulation of mucosal T-cell function is incompletely understood. I... more Extracellular matrix (stroma) regulation of mucosal T-cell function is incompletely understood. In this study, we uncovered a role for intestinal stromal products in the innate regulation of effector T cells. Stroma-conditioned media (S-CM) derived from the normal human intestinal stroma (transforming growth factor-β (TGF-β)(hi)/interleukin (IL)-6(lo)/IL-1β(lo)) significantly downregulated T-cell proliferation and interferon-γ (IFN-γ) production compared with S-CM derived from the inflamed Crohn's mucosa (TGF-β(hi)/IL-6(hi)/IL-1β(hi)). Antibody neutralization studies showed that TGF-β in normal S-CM inhibited T-cell proliferation and IFN-γ production, whereas IL-6 plus IL-1β in Crohn's S-CM promoted T-cell proliferation, and IL-1β alone promoted IFN-γ and IL-17 release. Importantly, normal S-CM inhibited T-bet expression, whereas Crohn's S-CM activated signal transducer and activator of transcription 3, suggesting that discordant T-cell responses are regulated at the transcription factor and signaling levels. These findings implicate stromal TGF-β in the downregulation of T-cell 2 responses in the normal intestinal mucosa, and stromal IL-6 and IL-1β in the promotion of Th1 and Th17 responses in the inflamed Crohn's mucosa, suggesting an innate regulatory function for the intestinal extracellular matrix.

Medical Physics, 1997

A traditional limitation with radiation therapy portal images is low image contrast, due in part ... more A traditional limitation with radiation therapy portal images is low image contrast, due in part to the low attenuation of the exposing radiation by the tissues being imaged, and the contrast capabilities of the image receptor. We have developed, and have clinically evaluated, a cassette-screen-film combination for portal localization imaging, which features a copper front screen plus Gd2O2S:Tb fluorescent screens and a slow-speed, fine grain, film emulsion with inherently high contrast coated on both sides of a 7 mil Estar base. The film can be processed in a conventional rapid-process film processor. Sensitometric data indicate that the film contrast (average gradient) for the new combination is approximately 3.5 times higher than the conventional portal localization systems in current use. The new combination has been clinically compared with two conventional systems. The required monitor unit settings were found to be similar. Initial clinical results indicate portal images made with the new combination are superior to those obtained with the conventional combinations. The images have much higher contrast, subjective impressions of lower noise, show clearer definition of structures, and are much easier to read.

Journal of Neurochemistry, 2008

Journal of Diabetes and its Complications, 1996

During the last 10 years, five children were treated at Childrens Hospital Los Angeles for acute,... more During the last 10 years, five children were treated at Childrens Hospital Los Angeles for acute, persistent neurologic loss during diabetic ketoacidosis (DKA). Four were transferred from local hospitals after the neurologic crisis. Computed tomography (CT) studies showed one or more areas of brain infarction in each patient, and none had evidence of diffuse cerebral edema. As three of the five patients had been treated for cerebral edema before their CT, brain edema may have been present initially. Our findings emphasize the importance of brain infarction as a cause of persistent neurologic loss in children with DKA.

International Journal of Radiation Oncology*Biology*Physics, 1996

Highland Hospital, Rochester, NY3 Purpose/ObjectJve:

Annals of Emergency Medicine, 2004

Academic Emergency Medicine, 2003

Objectives: To develop and validate a practical outcome instrument applicable to a broad range of... more Objectives: To develop and validate a practical outcome instrument applicable to a broad range of neurologic deficits in children. Methods: Reliability testing of a draft version of the Neurologic Outcome Scale for Infants and Children (NOSIC) in 100 children with a wide range of ages and levels of neurologic function was performed. After review of the reliability data by a panel of experts, the NOSIC was revised. Validity and reliability testing of the final NOSIC was performed in a new population of 157 children, 52 with cerebral palsy, motor delay, or language delay. Interrater reliability was assessed using Spearman rank correlation coefficients of two investigators' scores. NOSIC scores were correlated with scores on criterion-standard neuropsychological tests to assess validity. Results: The median NOSIC score for normal children was 98, interquartile range 96-100; the median score for abnormal children was 87, interquartile range 58-96. Interrater reliability of the NOSIC scores of 84 patients rated by both raters demonstrated excellent reliability ( r ¼ 0.77, 95% confidence interval [CI] ¼ 0.62 to 0.88). Correlation of the NOSIC scores of the 127 patients who had neuropsychological testing with applicable criterion standards was r ¼ 0.63, 95% CI ¼ 0.50 to 0.74. Conclusions: The NOSIC is a practical, reliable, valid, instrument applicable to infants and children with a broad range of neurologic deficits. It should be a useful research tool when neurologic function is an important outcome measure.

American Journal of Medical Genetics, 2000

We observed an analphoid marker chromosome stable through cell division in a 16year-old girl with... more We observed an analphoid marker chromosome stable through cell division in a 16year-old girl with developmental delay, short stature, limb contractures, and ovaries containing multiple cysts. She also developed myasthenia gravis at 15 years. The marker chromosome, present in 75% of metaphases (and in 90% of transformed lymphoblastoid cells), was C-band negative, and had no pan ␣-satellite sequences detectable by fluorescence in situ hybridization (FISH). The 8q origin of the marker was determined by use of subtelomeric probes and was confirmed by chromosome 8 painting probes. The marker was shown to be an inversion duplication of 8q when subtelomeric, telomeric, and c-myc FISH probes hybridized to both ends of the marker. The karyotype was 47,XX,+inv dup(8)(qter→ q23.3::q23.3→[neocen]→qter), resulting in tetrasomy for 8q23.3qter. The parents had normal karyotypes. Centromeric proteins CENP-C and CENP-E were present, but alpha associated centromere protein CENP-B was absent at a position defining a neocentromere. Am. J. Med. Genet. 92:69-76, 2000.

Academic Emergency Medicine Official Journal of the Society For Academic Emergency Medicine, Oct 1, 2003

Objectives: To develop and validate a practical outcome instrument applicable to a broad range of... more Objectives: To develop and validate a practical outcome instrument applicable to a broad range of neurologic deficits in children. Methods: Reliability testing of a draft version of the Neurologic Outcome Scale for Infants and Children (NOSIC) in 100 children with a wide range of ages and levels of neurologic function was performed. After review of the reliability data by a panel of experts, the NOSIC was revised. Validity and reliability testing of the final NOSIC was performed in a new population of 157 children, 52 with cerebral palsy, motor delay, or language delay. Interrater reliability was assessed using Spearman rank correlation coefficients of two investigators' scores. NOSIC scores were correlated with scores on criterion-standard neuropsychological tests to assess validity. Results: The median NOSIC score for normal children was 98, interquartile range 96-100; the median score for abnormal children was 87, interquartile range 58-96. Interrater reliability of the NOSIC scores of 84 patients rated by both raters demonstrated excellent reliability ( r ¼ 0.77, 95% confidence interval [CI] ¼ 0.62 to 0.88). Correlation of the NOSIC scores of the 127 patients who had neuropsychological testing with applicable criterion standards was r ¼ 0.63, 95% CI ¼ 0.50 to 0.74. Conclusions: The NOSIC is a practical, reliable, valid, instrument applicable to infants and children with a broad range of neurologic deficits. It should be a useful research tool when neurologic function is an important outcome measure.

The Journal of Cell Biology, 1981

PC12 cells, which differentiate morphologically and biochemically into sympathetic neuronlike cel... more PC12 cells, which differentiate morphologically and biochemically into sympathetic neuronlike cells in response to nerve growth factor, also respond to epidermal growth factor . The response to epidermal growth factor is similar in certain respects to the response to nerve growth factor . Both peptides produce rapid increases in cellular adhesion and 2-deoxyglucose uptake and both induce ornithine decarboxylase . But nerve growth factor causes a decreased cell proliferation and a marked hypertrophy of the cells. In contrast, epidermal growth factor enhances cell proliferation and does not cause hypertrophy . Nerve growth factor induces the formation of neurites ; epidermal growth factor does not.

Science Activities: Classroom Projects and Curriculum Ideas, 2012

In this interdisciplinary and field-based activity, grade 5 to 9 students engage in a comprehensi... more In this interdisciplinary and field-based activity, grade 5 to 9 students engage in a comprehensive scientific study of snow. Through a series of in-class and out-of-class structured interdisciplinary and team-teaching lesson progressions, students will collect data to be able to analyze and apply knowledge about weather, the physical properties of snow, and the structure of matter that will increase understanding

Clinical nuclear medicine, 2002

Annals of emergency medicine, 2004

We determine the efficacy of prophylactic phenytoin in preventing early posttraumatic seizures in... more We determine the efficacy of prophylactic phenytoin in preventing early posttraumatic seizures in children with moderate to severe blunt head injury. Children younger than 16 years and experiencing moderate to severe blunt head injury were randomized to receive phenytoin or placebo within 60 minutes of presentation at 3 pediatric trauma centers. The primary endpoint was posttraumatic seizures within 48 hours; secondary endpoints were survival and neurologic outcome 30 days after injury. A Bayesian decision-theoretic clinical trial design was used to determine the probability of remaining posttraumatic seizure free for each treatment group. One hundred two patients were enrolled, with a median age of 6.1 years. Sixty-eight percent were boys. The 2 treatment groups were well matched. During the 48-hour observation period, 3 (7%) of 46 patients given phenytoin and 3 (5%) of 56 patients given placebo experienced a posttraumatic seizure. There were no significant differences between the ...

The Journal of Cell Biology, 1981

PC12 cells, which differentiate morphologically and biochemically into sympathetic neuronlike cel... more PC12 cells, which differentiate morphologically and biochemically into sympathetic neuronlike cells in response to nerve growth factor, also respond to epidermal growth factor . The response to epidermal growth factor is similar in certain respects to the response to nerve growth factor . Both peptides produce rapid increases in cellular adhesion and 2-deoxyglucose uptake and both induce ornithine decarboxylase . But nerve growth factor causes a decreased cell proliferation and a marked hypertrophy of the cells. In contrast, epidermal growth factor enhances cell proliferation and does not cause hypertrophy . Nerve growth factor induces the formation of neurites ; epidermal growth factor does not.

Pediatric Neurology, 2010

Acute flaccid paralysis is a standard outcome for detection of poliomyelitis globally and an ongo... more Acute flaccid paralysis is a standard outcome for detection of poliomyelitis globally and an ongoing potential vaccine-associated adverse event concern for polio, influenza, and meningococcal vaccines. No systematic population-based data on the epidemiologic and clinical features of this condition, or its potential association with immunization, have been reported from the United States. The present retrospective cohort study of acute flaccid paralysis in the Southern and Northern California Kaiser Permanente Health Care Plans was conducted using computerized diagnosis data and medical record review of potential cases among children aged 1 month to <15 years and diagnosed from January 1, 1992 through December 31, 1998. In all, 3297 potential cases were identified; of these, 2682 cases (81%) did not meet the case definition, and of the remaining 615 cases, 245 (7% of the total) were included. The incidence of disease was 1.4 per 100,000 children/year (95% confidence interval = 1.2-1.6); predicting approximately 844 children/year in the United States. Disease incidence did not vary with season or sex, varied inversely with age, and declined 28% during the study period. No cases of vaccine-associated acute flaccid paralysis were identified. In nonendemic countries, ongoing acute flaccid paralysis surveillance is often conducted, because of the risk of poliovirus importation, but this practice may be difficult to justify, given low disease incidence and breadth of clinical presentation.

Pediatric Neurology, 1999

A 14-year-old female with tuberous sclerosis and history of seizures was found dead in bed at hom... more A 14-year-old female with tuberous sclerosis and history of seizures was found dead in bed at home 3 days after she had been assessed as doing well at a routine neurology clinic appointment. She had been treated with an antiepileptic drug, felbamate, for 36 months and had been seizure-free except for one seizure episode 5 months before death. Postmortem examination revealed cerebral edema, with uncal and tonsillar herniation, and pulmonary edema, consistent with seizure-induced apnea. Multiple microglial nodules with mature perivascular lymphocytic cuffing and diffuse infiltrates were identified around subependymal tuberous sclerosis giant cell nodules. Immunostaining and electron microscopy revealed human herpesvirus-6 -infected macrophages, astrocytes, lymphocytes, and endothelial cells in the subependymal tuberous sclerosis lesions and choroid plexus. Subacute human herpesvirus-6 encephalitis is postulated to have precipitated a seizure and thus sudden unexpected death in epilepsy in this otherwise stable adolescent patient. © 1999 by Elsevier Science Inc. All rights reserved.

The Pediatric Infectious Disease Journal, 2006

Journal of the Optical Society of America A, 1987

Detective quantum efficiency provides a useful measure of the imaging efficiency of imaging syste... more Detective quantum efficiency provides a useful measure of the imaging efficiency of imaging systems. Methods for measuring the exposure and the spatial-frequency dependence of the contrast transfer function, the noise power spectrum, and the detective quantum efficiency are developed for x-ray imaging systems. These are applied to a high-resolution screen-film combination exposed to a 30-kV-peak x-ray spectrum. The major component sources of screen-film noise in this system are identified and quantified. These are interpreted in terms of a simple model to predict the screen-film noise power spectrum and detective quantum efficiency. Reasonable agreement is found between model predictions and experimental measurements.

Mucosal Immunology, 2011

Extracellular matrix (stroma) regulation of mucosal T-cell function is incompletely understood. I... more Extracellular matrix (stroma) regulation of mucosal T-cell function is incompletely understood. In this study, we uncovered a role for intestinal stromal products in the innate regulation of effector T cells. Stroma-conditioned media (S-CM) derived from the normal human intestinal stroma (transforming growth factor-β (TGF-β)(hi)/interleukin (IL)-6(lo)/IL-1β(lo)) significantly downregulated T-cell proliferation and interferon-γ (IFN-γ) production compared with S-CM derived from the inflamed Crohn's mucosa (TGF-β(hi)/IL-6(hi)/IL-1β(hi)). Antibody neutralization studies showed that TGF-β in normal S-CM inhibited T-cell proliferation and IFN-γ production, whereas IL-6 plus IL-1β in Crohn's S-CM promoted T-cell proliferation, and IL-1β alone promoted IFN-γ and IL-17 release. Importantly, normal S-CM inhibited T-bet expression, whereas Crohn's S-CM activated signal transducer and activator of transcription 3, suggesting that discordant T-cell responses are regulated at the transcription factor and signaling levels. These findings implicate stromal TGF-β in the downregulation of T-cell 2 responses in the normal intestinal mucosa, and stromal IL-6 and IL-1β in the promotion of Th1 and Th17 responses in the inflamed Crohn's mucosa, suggesting an innate regulatory function for the intestinal extracellular matrix.

Medical Physics, 1997

A traditional limitation with radiation therapy portal images is low image contrast, due in part ... more A traditional limitation with radiation therapy portal images is low image contrast, due in part to the low attenuation of the exposing radiation by the tissues being imaged, and the contrast capabilities of the image receptor. We have developed, and have clinically evaluated, a cassette-screen-film combination for portal localization imaging, which features a copper front screen plus Gd2O2S:Tb fluorescent screens and a slow-speed, fine grain, film emulsion with inherently high contrast coated on both sides of a 7 mil Estar base. The film can be processed in a conventional rapid-process film processor. Sensitometric data indicate that the film contrast (average gradient) for the new combination is approximately 3.5 times higher than the conventional portal localization systems in current use. The new combination has been clinically compared with two conventional systems. The required monitor unit settings were found to be similar. Initial clinical results indicate portal images made with the new combination are superior to those obtained with the conventional combinations. The images have much higher contrast, subjective impressions of lower noise, show clearer definition of structures, and are much easier to read.

Journal of Neurochemistry, 2008

Journal of Diabetes and its Complications, 1996

During the last 10 years, five children were treated at Childrens Hospital Los Angeles for acute,... more During the last 10 years, five children were treated at Childrens Hospital Los Angeles for acute, persistent neurologic loss during diabetic ketoacidosis (DKA). Four were transferred from local hospitals after the neurologic crisis. Computed tomography (CT) studies showed one or more areas of brain infarction in each patient, and none had evidence of diffuse cerebral edema. As three of the five patients had been treated for cerebral edema before their CT, brain edema may have been present initially. Our findings emphasize the importance of brain infarction as a cause of persistent neurologic loss in children with DKA.

International Journal of Radiation Oncology*Biology*Physics, 1996

Highland Hospital, Rochester, NY3 Purpose/ObjectJve:

Annals of Emergency Medicine, 2004

Academic Emergency Medicine, 2003

Objectives: To develop and validate a practical outcome instrument applicable to a broad range of... more Objectives: To develop and validate a practical outcome instrument applicable to a broad range of neurologic deficits in children. Methods: Reliability testing of a draft version of the Neurologic Outcome Scale for Infants and Children (NOSIC) in 100 children with a wide range of ages and levels of neurologic function was performed. After review of the reliability data by a panel of experts, the NOSIC was revised. Validity and reliability testing of the final NOSIC was performed in a new population of 157 children, 52 with cerebral palsy, motor delay, or language delay. Interrater reliability was assessed using Spearman rank correlation coefficients of two investigators' scores. NOSIC scores were correlated with scores on criterion-standard neuropsychological tests to assess validity. Results: The median NOSIC score for normal children was 98, interquartile range 96-100; the median score for abnormal children was 87, interquartile range 58-96. Interrater reliability of the NOSIC scores of 84 patients rated by both raters demonstrated excellent reliability ( r ¼ 0.77, 95% confidence interval [CI] ¼ 0.62 to 0.88). Correlation of the NOSIC scores of the 127 patients who had neuropsychological testing with applicable criterion standards was r ¼ 0.63, 95% CI ¼ 0.50 to 0.74. Conclusions: The NOSIC is a practical, reliable, valid, instrument applicable to infants and children with a broad range of neurologic deficits. It should be a useful research tool when neurologic function is an important outcome measure.

American Journal of Medical Genetics, 2000

We observed an analphoid marker chromosome stable through cell division in a 16year-old girl with... more We observed an analphoid marker chromosome stable through cell division in a 16year-old girl with developmental delay, short stature, limb contractures, and ovaries containing multiple cysts. She also developed myasthenia gravis at 15 years. The marker chromosome, present in 75% of metaphases (and in 90% of transformed lymphoblastoid cells), was C-band negative, and had no pan ␣-satellite sequences detectable by fluorescence in situ hybridization (FISH). The 8q origin of the marker was determined by use of subtelomeric probes and was confirmed by chromosome 8 painting probes. The marker was shown to be an inversion duplication of 8q when subtelomeric, telomeric, and c-myc FISH probes hybridized to both ends of the marker. The karyotype was 47,XX,+inv dup(8)(qter→ q23.3::q23.3→[neocen]→qter), resulting in tetrasomy for 8q23.3qter. The parents had normal karyotypes. Centromeric proteins CENP-C and CENP-E were present, but alpha associated centromere protein CENP-B was absent at a position defining a neocentromere. Am. J. Med. Genet. 92:69-76, 2000.