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Biomedical subjects

F J DiMario

Publications and source records attributed to F J DiMario.

At least 37 records · Page 2Linked to original sources
PubMed1996

Respiratory sinus arrhythmia in patients with Prader-Willi syndrome.

In this investigation, we sought to further test the hypothesis that parasympathetic deficiency exists among persons with Prader-Willi syndrome, by examining respiratory sinus arrhythmia. The study sample comprised two groups of patients: 14 subjects with Prader-Willi syndrome and 14 age- and sex-matched controls. Each subject's electrocardiogram was recorded in a quiet room and digitized by a personal computer during five 1-minute periods. RR intervals within each 1-minute period were converted to heart rate in 120 successive 0.5-second intervals. The resultant heart rate time series was converted to its underlying frequency composition by a fast Fourier transform and averaged across minutes. Respiratory sinus arrhythmia was defined as the variability in the time series over a frequency range (0.096 to 0.48 Hz) corresponding to a range of respiratory rates from six to 30 breaths/minute. Analysis revealed significantly less variability in the heart rates of subjects with Prader-Willi syndrome relative to age- and sex-matched controls (group x frequency bin: F = 2.26, P < .05). An analysis of covariance adjusting for body mass index differences between the groups produced identical results. These findings support the existence of a parasympathetic deficiency among subjects with Prader-Willi syndrome independent of their body mass. This is likely due to dysregulation of the central autonomic network.

Adolescent↗
PubMed1996

Prenatal diagnosis of intracranial lipoma associated with agenesis of the corpus callosum.

BACKGROUND: Lipoma of the corpus callosum is a congenital malformation present in 1:1700 individuals. Only three cases of prenatal sonographic diagnosis have been described. CASES: Two cases of prenatal sonographic diagnosis of intracranial lipoma are described. The first case was visible at 26 weeks' gestation and was associated with partial agenesis of the corpus callosum, a characteristic midline gyral pattern, and fetal colpocephaly. The second case was an isolated lipoma diagnosed at 37 weeks. In both cases transvaginal scanning and color Doppler studies were useful adjuncts in making the diagnosis. CONCLUSION: Prenatal sonographic diagnosis of intracranial lipoma associated with agenesis of the corpus callosum is possible as early as 26 weeks' gestation. Because prognosis depends on associated anomalies, a detailed examination of fetal intracranial anatomy and a complete anatomic survey should be performed. Awareness of this lesion can be expected to increase its detection on prenatal sonography.

Adult↗
PubMed1995

Brain morphometric analysis in achondroplasia.

RATIONALE AND OBJECTIVES: We undertook an MRI brain morphometric analysis to investigate the relationships between brain and skull base growth and clinical function in patients with achondroplasia as compared to normal controls. METHODS: Patients selected for evaluation included pediatric patients who underwent T1 and T2 or dual-echo, proton-density axial T1- and T2-weighted and T1 sagittal brain MRI during 1988 to 1992. Study subjects (n = 11) were diagnosed with achondroplasia by clinical and radiologic criteria and compared to an age- and gender-matched control group (n = 25). Twenty-four predetermined ventricular and brain parenchymal dimensions and area calculations were evaluated. Data were analyzed using two-tailed t tests, chi-squared analysis, ANOVA, and ANCOVA, adjusting for age and sex. Correlational analyses with respect to subject type and age were done separately. RESULTS: There were 36 patients (11 subjects with 15 MRI examinations, mean age 2.3 years, and 25 controls with 26 MRI examinations, mean age 3.0 years). Significant differences existed for 11/17 measures. Achondroplasts had a significantly larger bifrontal width (p < 0.0001), bicaudate width (p < 0.0001), frontal horn diagonal length (p < 0.05), biatrial width (p < 0.0001), biparietal diameter (p < 0.05), and iter to incisural line distance (p < 0.0001). Achondroplasts had significantly smaller frontal lobe depths (p < 0.01), optic tract angles (p < 0.0001), foramen magnum diameters (p < 0.0001), and sinojugular transition zones (p < 0.05). There were no differences in brainstem heights or fourth ventricular widths between achondroplasts and controls. Furthermore, with respect to age, frontal lobe depth was smaller when compared to controls and the descending sigmoid sinus area became increasingly larger. CONCLUSIONS: Achondroplastic subjects experience dynamic changes in brain morphometry resulting in a rostral displacement of the brainstem with gradual compression of the frontal lobes due to enlargement of the supratentorial ventricular spaces commensurate with an increase in venous sinus distension.

Achondroplasia↗
PubMed1994

Termination of nutrition and hydration in a child with vegetative state.

A child in a vegetative state may present difficult decisions for physicians and families regarding the course of treatment. We report a case of a child who entered a prolonged vegetative state following status epilepticus. The child's parents requested termination of artificial means of nutrition and hydration. That request culminated in a complex legal intervention by multiple state agencies and attracted local media attention. This article presents the details of the case and discusses the medical and legal complexities encountered. The diagnosis and prognosis of the persistent vegetative state in children have recently been defined. Decision making in these circumstances should be based on adequate, careful clinical evaluation of the medical facts. Hospital ethics committees can provide an independent forum in which the diverse viewpoints in a case may be examined. Decision making should optimally be accomplished between families and caretakers.

Brain Diseases↗
PubMed1994

Benign transient downward gaze in preterm infants.

Five preterm infants who had episodes of conjugate downward gaze 2-3 months after birth were evaluated. Three were extremely preterm, born at 22-25 weeks gestation, and 2 were twins, born at 28 weeks gestation. In all patients, multiple, brief episodes of downward gaze occurred daily, with each lasting for several seconds. In 3 infants, downward gaze occurred more often with stimulation, while in another it occurred more frequently prior to feeding. There was never an associated change in vital signs, level of consciousness, muscle tone, or focal neurologic deficit. All infants had bronchopulmonary dysplasia. Neuroimaging studies were normal in 3 patients and demonstrated nonspecific abnormalities in 2. At follow-up (6 1/2-34 months corrected age), intermittent downward gaze had completely resolved in 3 infants and was decreased in frequency and severity in the youngest 2. Four infants had normal development and neurologic examinations, while 1 child demonstrated mildly increased asymmetric muscle tone with normal development. Intermittent tonic downward gaze can be seen in extremely preterm infants who subsequently have normal development, and may represent a maturational delay in upward gaze reflex systems.

Child Development↗
PubMed1994

An evaluation of autonomic nervous system function in patients with Prader-Willi syndrome.

OBJECTIVE: Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder in which many cardinal features may have a neurologically based pathophysiology involving both the central and peripheral components of the autonomic nervous system. Autonomic nervous system function was studied noninvasively in a group of subjects with PWS and control subjects to determine whether autonomic nervous system dysfunction exists as part of the PWS. DESIGN/SETTING: This cross-sectional study was performed in the neurophysiology laboratory at a tertiary care facility. METHODS: Evaluation included anthropometric measurements and calculation of a body mass index (BMI). Simultaneous electrocardiography and serial recordings of pulse rate and systolic/diastolic mean arterial blood pressures during orthostatic maneuvers were taken. Pupillary response to the instillation of dilute pilocarpine and measurements of plasma norepinephrine at rest and after standing were also obtained. Results were analyzed using two-tailed t tests, Fisher exact test, analysis of variance, and analysis of covariance adjusting for age, gender, and BMI. PATIENTS: There were 14 subjects with PWS (8 female, 6 male; aged 4 to 40 years, mean age 16 years) and 8 control subjects (4 female, 4 male; aged 5 to 37 years, mean age 19 years). RESULTS: Abnormal findings were obtained only in subjects with PWS. Analysis of covariance adjusting for age, gender, and BMI revealed a trend for subjects with PWS to have lower resting diastolic blood pressure (P < .09) and significantly less change in diastolic blood pressure after standing (P < .02). Subjects with PWS had significantly greater BMI than did control subjects (P < .001), which correlated significantly with all pulse rate measurements where the greater the BMI the higher the pulse rate at rest (r = .25, P < .04) and the lower the pulse rate after arising from lying to standing at both 15 and 30 seconds (r = .17, P < .1; r = .55, P < .08 respectively). Pupillary constriction of 2 mm or more was seen in 7 of 14 subjects with PWS and in no control subjects (P < .004). The 30:15 R-R interval ratio was abnormal in 6 of 14 subjects with PWS and in no control subjects (P < .03). CONCLUSIONS: These results suggest that patients with PWS have a detectable underlying autonomic dysfunction characterized principally by diminished parasympathetic nervous system activity.

Adolescent↗
PubMed1993

Möbius sequence: further in vivo support for the subclavian artery supply disruption sequence.

Möbius sequence consists of a congenital bilateral facial nerve palsy and external ophthalmoplegia often associated with malformations of the limbs and orofacial structures. The pathogenesis of the sequence is a subject of debate. However, a new hypothesis proposes that Möbius sequence results from an interruption of embryonic blood supply (subclavian artery supply disruption sequence). Here we present an infant with bilateral facial nerve palsy (VII), external ophthalmoplegia (IV, VI), paresis of cranial nerves V, IX, X, XI, and XII, absence of the pectoralis major muscle (Poland anomaly), terminal transverse limb defects, and absence of the right diaphragm. Also, he was found to have discrete foci of brainstem calcifications in the region of the dorsal respiratory group on both CT scan and the histologic sections with microscopic evidence of diffuse brainstem "injury." The anomalies and histopathology noted in this infant imply that vascular insufficiency prior to the sixth week of gestation involving the proximal sixth intersegmental artery may result in the manifestations presented in this report and lend further support for the existence of a subclavian artery supply disruption sequence.

Abnormalities, Multiple↗
PubMed1993

Behavior profile of children with severe breath-holding spells.

Thirty-two children with severe breath-holding spells and 42 control children were studied by using the Child Behavior Checklist. No single behavioral profile could identify children with breath-holding spells, and there were no group differences with respect to individual behavior categories, broad-band profiles, or total scores. No correlation was found between frequency of breath-holding spells and profile scores.

Child↗
PubMed1993

Analysis of skull anthropometric measurements in patients with neurofibromatosis type-1.

RATIONALE AND OBJECTIVES: The authors studied selected anthropometric measurements of plain postero-anterior and lateral skull roentgenograms to ascertain whether these were useful in distinguishing patients with clinically probable neurofibromatosis type-1 from controls. METHODS: A retrospective review of medical records of patients for whom skull roentgenograms were available was conducted. Patients were assigned to one of three groups: definite neurofibromatosis type-1 (DNF), probable neurofibromatosis type-1 (PNF), and controls. A blinded analysis of 29 measurements, 9 qualitative assessments, and 3 area/volume calculations was performed. RESULTS: There were 58 patients (29 controls, 14 DNF, and 15 PNF). The majority (75%) of all predetermined landmarks could be ascertained in 43 of these subjects. After age and gender were held constant, analysis of covariance showed that both DNF and PNF subjects could be distinguished from controls, but not from each other when comparing the mean: sella turcica height (P < .001), sella turcica depth (P < .005), skull width (P < .001), skull length (P < .002), skull height (P < .003), and skull volume (P < .0001). CONCLUSIONS: Anthropometric analysis of skull roentgenograms coupled with results of clinical examination improves the ability to distinguish between patients with DNF and PNF from controls.

Adolescent↗
PubMed1993

Neurofibromatosis type 1: magnetic resonance imaging findings.

The purpose of this study was to determine the locations and characterize the types of brain abnormalities noted on brain magnetic resonance imaging in patients with probable and definite neurofibromatosis type 1. Patients with definite neurofibromatosis type 1 (n = 17) were studied when clinically indicated, and patients with probable neurofibromatosis type 1 (n = 9) were studied to evaluate for asymptomatic optic pathway glioma. Of the 26 patients evaluated, 14 (53%) had high-intensity signal abnormalities and 11 (42%) had significant structural abnormalities. Subsequent clinical follow-up has confirmed conversion to a definite neurofibromatosis type 1 diagnosis in three of the four cases of probable neurofibromatosis type 1 who had high-intensity signal abnormalities. The most common locations of high-intensity signal lesions were in the globus pallidus of the basal ganglia and cerebellar white matter. Tortuous or thickened optic nerves and/or optic chiasm were seen in eight cases. Brain magnetic resonance imaging scans frequently reveal high-intensity signal lesions and structural abnormalities in selected patients with both probable and definite neurofibromatosis type 1. These findings may allow for a definitive diagnosis in clinically probable cases.

Adolescent↗
PubMed1993

Familial band heterotopias simulating tuberous sclerosis.

We report the clinical and neuroimaging findings of a mother and daughter with seizure disorders and band heterotopias seen on magnetic resonance imaging studies. These clinicoradiologic findings simulate those for a diagnosis of tuberous sclerosis complex. Clinicians should be aware of this migrational anomaly and its neuroimaging characteristics, as well as the potential for this specific migrational anomaly to be genetically transmitted.

Adolescent↗
PubMed1992

Breath-holding spells in childhood.

Childhood breath-holding spells are a common and frightening phenomenon occurring in healthy, otherwise normal children. They have been well recognized for several hundred years. There appear to be two clinical forms: the cyanotic type and the pallid type, referring to the color change exhibited by the child during the episode. Prior research concerning the underlying pathophysiologic mechanisms involved in breath-holding spells has implicated an autonomic nervous system dysregulation. Cerebral anoxia is the ultimate factor responsible for the loss of consciousness observed in the severe forms of breath-holding spells. The clinical and epidemiologic aspects of breath-holding spells are herein summarized. The pertinent respiratory and neural physiologic interactions involved are delineated, as well as practical treatment approaches.

Apnea↗
PubMed1992

Childhood headaches: a school nurse perspective.

One hundred eight out of 256 (42%) surveys were completed by registered school nurses (SNs) working in the Connecticut public school system. Of the 108 respondents, 99% were RNs and 1% were LPNs. Each SN spent an average of 19 working days a month at school, in elementary (71%) and/or preschool (40%) settings. Professional experience and educational backgrounds were variable. Over 40% had never received formal instruction regarding childhood headache (CH), and an additional 32% had received less than two hours. School nurses ranked CH behind minor trauma, GI upset, and URI as the fourth of the 13 most common clinical problems encountered at school. An average of 35 children with headaches were seen each month. A brief description of, and inquiry about, other systemic symptoms were nearly always made. Only 62% of the SNs usually asked a child about neurological symptoms. A child's temperature and pulse were measured routinely by 84% of SNs, whereas blood pressure and neurological assessment were obtained routinely only in approximately 12%. Treatment varied; nonetheless, 31% routinely allowed the child to rest or sleep as part of their management plan. Analgesic was administered routinely only by 10%. Approximately one third generally discussed a disposition plan with the child's parents, whereas only 3% usually spoke with the child's physician. Although 51% of the respondents felt they were "constrained by school policy" in their management of CH, half of these individuals (71% of all respondents) did not want more latitude. It is concluded from this survey that despite limited formal instruction about CH, SNs dealt with CH in a reasonable manner.

Adolescent↗
PubMed1990

Pallid breath-holding spells. Evaluation of the autonomic nervous system.

Excessive vagal tone has been implicated as the cause of pallid breath-holding spells (PBHS) in children. The following study was undertaken to test the hypothesis that children with PBHS have underlying autonomic nervous system (ANS) dysfunction. Five patients (age 29-79 months old) who had experienced PBHS were evaluated at a time when they were clear of spells for ANS dysfunction. A battery of clinical bedside tests were given. The results were compared with test results of a control group of children (age 18-104 months) who had not experienced PBHS. Data collected included blood pressure, pulse rate, mean arterial pressure, the 30:15 R-R ratio upon standing, the expiratory:inspiratory (E:I) R-R ratio, pupillary response to conjunctival pilocarpine instillation, and plasma norepinephrine levels upon standing. Breath-holders displayed a statistically significant (p less than 0.05) percent decrease in mean arterial pressure (-10.2% PBHS vs. -4.1% controls) and an unsustained increase in pulse rate during the lying to standing maneuver. Two children with PBHS had "positive orthostatic signs," and one child with PBHS had a plasma norepinephrine level of 94 pg/ml (60% below the mean for both groups). There is evidence to suggest a subtle, underlying, generalized autonomic dysfunction in children with PBHS. A strong familial tendency toward syncope, breath-holding spells, and seizures was recognized in nine of ten subjects. Additionally, there was a strong influence from the maternal side of the family in seven of nine subjects.

Age Factors↗