Francis Dimario

Francis Dimario
CT Children's Medical Center · Pediatrics

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Research items (118)
Article
Full-text available
Tuberous sclerosis complex is an autosomal-dominant, neurocutaneous, multisystem disorder characterized by cellular hyperplasia and tissue dysplasia. The genetic cause is mutations in the TSC1 gene, found on chromosome 9q34, and TSC2 gene, found on chromosome 16p13. The clinical phenotypes resulting from mutations in either of the 2 genes are varia...
Article
Full-text available
We have previously shown that serum VEGF-D is elevated at baseline, correlates with kidney angiomyolipoma size at baseline and 12 months, and decreases with sirolimus treatment in adults with tuberous sclerosis complex (TSC). To further investigate the utility of serum VEGF-D for longer term monitoring of TSC kidney disease, we present VEGF-D level...
Data
Serum levels of VEGF-D at baseline and 12 months of sirolimus treatment in patient subgroups. VEGF-D levels decrease in all subgroups (males, females, TSC only, TSC/LAM) at 12 months. As indicated, the decrease is statistically significant (using both Mann-Whitney test and paired t test) in females and subjects with TSC/LAM, but not in males or pat...
Data
VEGF-D levels for both subgroups at baseline, 12 months, 24 months. (XLS)
Article
SMART syndrome (stroke-like migraine attacks after radiation therapy) is a rare condition that involves complex migraines with focal neurologic findings in patients following cranial irradiation for central nervous system malignancies. Little is known about the mechanisms behind the disorder, making successful treatment challenging. We report 2 new...
Article
Academic health centers (AHCs) have traditionally been a vibrant locale for cutting-edge medical research, androgogic education and innovative clinical care for the most vexing diseases. While these pursuits have coexisted and flourished, the realities of the health-care business environment have demanded reformatting and emulation of a corporate o...
Article
This investigation correlated incidence and degree of autonomic dysfunction with the degree of motor impairment in children hospitalized with Guillain-Barré syndrome. Motor weakness varies, as does the effect on autonomic function including heart rate, vasomotor stability, sweating, continence, and blood pressure. After Institutional Review Board a...
Data
Pulmonary function: DLCO before and after sirolimus treatment in LAM subgroups. (DOC)
Data
MR images of kidney angiomyolipoma before and after sirolimus treatment. Post contrast MR images demonstrate an angiomyolipoma (arrow) in the right kidney measuring 3.62 cm maximal diameter at baseline, and 2.26 cm maximal diameter at week 52. (DOC)
Data
MR images of SEGA (brain tumor) before and after sirolimus treatment. T1 post gadolinium MR images demonstrate a SEGA that measured 2.03 cm at baseline and 1.68 cm at week 52. (DOC)
Data
Summary of serum VEGF-D levels from this and other studies. In this table we have summarized data from this study and all published VEGF-D data related to sporadic LAM. When all studies are compared, there are some similar trends. Four studies show that VEGF-D levels in sporadic LAM are greater than those in healthy controls [39], [40], [41], [42]....
Data
TSC gene mutations. TSC gene mutation testing is now commercially available so we collected this data in our study subjects (see Table below). There were 18 cases that underwent mutation testing, 15 that were not tested, and 3 for whom testing status is unknown. In the 18 cases that were tested, 14 had TSC2 gene mutations, 0 had TSC1 mutations, and...
Data
Kidney cysts before and after sirolimus treatment. There were 22/36 (61%) participants with renal cysts at study entry. To document the severity of kidney cysts associated with TSC, we graded these on a scale from 0 to 4 as follows: grade 0-no cysts, grade 1-up to 2 small cysts (all <2 cm), grade 2-more than 2 small cysts (all <2 cm), grade 3-more...
Data
Trial Protocol. Original protocol v011805. (DOC)
Data
Percent change in kidney angiomyolipomas size at 12 and 24 months for individual subjects. A) Subjects from the ON SIROLIMUS AFTER 12 MONTHS subgroup (n = 6); B) Subjects from the OFF SIROLIMUS AFTER 12 MONTHS subgroup (n = 12). The blue bars show the percent change in kidney tumor size at 12 months. The red bars show year 2 measurements of kidney...
Data
Complete kidney angiomyolipoma response data. (DOC)
Data
TSC skin manifestations before and after sirolimus treatment. These observations indicate that TSC related skin lesions seem to improve in some individuals after 52 weeks of sirolimus treatment. It is particularly encouraging that improvement was reported for facial angiofibromas in 57% of participants. Although the subjective nature of the assessm...
Data
Summary of pulmonary function before and after sirolimus treatment in women with LAM. Of the 18 subjects with baseline and week 52 PFT data, 15 had TSC/LAM (10-mild LAM, 5-moderate LAM), and 3 did not. For all 15 with TSC/LAM, on average there was a 4.3% increase in FVC, 0.9% increase in FEV1, and 0.9% decrease in DLCO when week 52 PFT results were...
Data
Kidney function before and after sirolimus treatment. Almost all those enrolled had good renal function with a normal creatinine and BUN at baseline. There were only 6 with a creatinine ≥1.5 mg/dL at study entry. The average creatinine at study entry was 1.10±0.40 mg/dL (range 0.7–2.6, n = 36). The average blood urea nitrogen (BUN) at study entry w...
Data
Summary of proteinuria data. At study entry, proteinuria was not common but was noted in 4 subjects (31 with no proteinuria, 1-unknown). Of the 4 with proteinuria, according to urine dipstick testing, there were 2 with trace to 1+ proteinuria, 1 with 2+ proteinuria, and 1 with 3+ proteinuria. We did observe an increased frequency of proteinuria wit...
Data
Complete list of protocol deviations/violations. (DOC)
Data
MR images of kidney angiomyolipoma before and after sirolimus treatment. Post contrast MR images demonstrate an angiomyolipoma (arrow) in the right kidney measuring 6.03 cm maximal diameter at baseline, and 3.91 cm maximal diameter at week 52. (DOC)
Data
Pulmonary function: FVC before and after sirolimus treatment in LAM subgroups. (DOC)
Data
Pulmonary function: FEV1 before and after sirolimus treatment in LAM subgroups. (DOC)
Data
Serious adverse events unrelated to study drug and non-TSC related tumors. (DOC)
Data
Tubers, SENs, and seizures before and after sirolimus treatment. (DOC)
Data
Complete pulmonary function data before and after sirolimus treatment. (DOC)
Data
Complete data on response of measurable liver angiomyolipomas. (DOC)
Data
Summary of hematuria data. Hematuria was not common, but was observed in 4 participants at study entry. In all 4 cases, baseline hematuria was minimal (up to 20 RBCs/high powered field (hpf)). As shown in the table below, at each time point there were 3–4 participants with minimal to mild hematuria (up to 10,000 RBCs/hpf). There were no cases of mo...
Article
Full-text available
Tuberous sclerosis (TSC) related tumors are characterized by constitutively activated mTOR signaling due to mutations in TSC1 or TSC2. We completed a phase 2 multicenter trial to evaluate the efficacy and tolerability of the mTOR inhibitor, sirolimus, for the treatment of kidney angiomyolipomas. 36 adults with TSC or TSC/LAM were enrolled and start...
Chapter
Full-text available
Autism Spectrum Disorders (ASD) are associated with atypical social, behavioral and physiological characteristics. Here we outline an emerging connection among the increased incidence of epilepsy, disrupted sleep and perseverative behaviors exhibited and sought by persons with autism. Specifically, we propose that persons with autism can benefit fr...
Article
Full-text available
The neuromodulator adenosine is an endogenous sleep promoter, neuroprotector and anticonvulsant, and people with autism often suffer from sleep disruption and/or seizures. We hypothesized that increasing adenosine can decrease behavioral symptoms of autism spectrum disorders, and, based on published research, specific physiological stimuli are expe...
Article
Syncope is a self-limited loss of consciousness produced by cerebral hypoperfusion/hypoxia. The objective of this study was to categorize the etiology and determine the frequency of concurrent epilepsy and whether laboratory testing is diagnostically useful. This was an institutional review board-approved retrospective chart review. Data were analy...
Article
These are commentaries of a Cochrane review, published in this issue of EBCH, first published as: Zehetner AA, Orr N, Buckmaster A, Williams K, Wheeler DM. Iron supplementation for breath-holding attacks in children. Cochrane Database of Systematic Reviews 2010, Issue 5. Art. No.: CD008132. DOI: 10.1002/14651858.CD008132.pub2. Further information f...
Article
Evidence from multiple sources has highlighted the increased burden of cognitive, behavioral, and psychiatric disorders in childhood-onset epilepsy. Some of this increased morbidity, however, is attributable to underlying structural and metabolic insults. We assessed whether cognitive/behavioral/psychiatric disorders are associated with epilepsy of...
Article
Full-text available
We report the course of a 16-year-old girl who presented with near complete visual loss associated with chiasmal neuritis and a biopsy proven tumefactive demyelinating lesion on magnetic resonance imaging (MRI) in association with a recent immunization against human papilloma virus.
Article
Full-text available
The epidemiology of lesions identified by magnetic resonance imaging (MRI), along with the use of pre-surgical evaluations and surgery in childhood-onset epilepsy patients has not previously been described. In a prospectively identified community-based cohort of children enrolled from 1993 to 1997, we examined (i) the frequency of lesions identifie...
Article
Tumefactive demyelinating lesions are a known but uncommon complication of multiple sclerosis, a disease rarely reported in children. This is the case of a 16-year-old African American patient with multiple sclerosis, who developed 2 tumefactive demyelinating lesions. Review of the literature and our own experience helped formulate an algorithm for...
Article
We assessed residual cognitive deficits in young people with idiopathic and cryptogenic epilepsy. In the setting of an ongoing prospective study, we invited participants initially diagnosed and enrolled in the cohort 8–9 years earlier to undergo standardized neuropsychological assessment. Sibling controls were invited when available. We analyzed 14...
Article
Orbital pseudotumor, also known as idiopathic orbital inflammation, is a benign, idiopathic, noninfectious, and nonneoplastic clinical syndrome with an inflammatory mass within the orbit and no identifiable cause. This disease is rare in the pediatric population, especially in very young children. In this article, the authors describe a 2-year-old...
Article
To determine the frequency and determinants of subnormal global cognitive function in a representative, community-based sample of children prospectively identified at the time of initial diagnosis of epilepsy. In children enrolled with newly diagnosed epilepsy and followed a median of 10.5 years, level of cognitive function (within normal, borderli...
Article
Behavioral and related disorders are frequently reported in association with childhood epilepsy but the reasons for this are unclear. In a long-term prospective, community-based study of newly-diagnosed childhood epilepsy, behavioral assessments (Child Behavior Checklist) were performed in children 8 to 9 years after the initial diagnosis of epilep...
Article
The paroxysmal nonepileptic events of childhood are a group of disorders, syndromes, and phenomena that mimic true epileptic seizures. Clinical experience and a clear description of the event in question will usually lead to a correct categorization. They span in age from neonate to young adult and are apt to be the most common diagnostic challenge...
Article
To correlate prognosis of hypoxic-ischemic white-matter injury with magnetic resonance imaging (MRI). In a retrospective review at an urban medical center, three adult and three pediatric patients with predominant white-matter involvement caused by hypoxic- ischemic injury were evaluated over a 15-month period. Five patients with MRI-defined hypoxi...
Article
We report two children with transient myasthenia gravis preceded by viral illnesses. The first is a 5-year-old boy who developed oculobulbar weakness 2 weeks following a varicella-zoster infection. The second is a 4-year-old boy who developed facial diplegia and dysarthria several weeks following a viral pharyngitis. Myasthenia gravis was diagnosed...
Article
Tuberous sclerosis complex is an autosomal dominant multisystem disorder. Spontaneous mutations occur in up to 60% of patients with gene loci located on chromosomes 9q34 (TSC1) and 16p13 (TSC2). Diagnosis is established with the identification of various neurocutaneous markers and multiple organ system hamartomas. The variable expression of severit...
Article
Hemorrhage complicating acute carbon monoxide poisoning is usually confined to the basal ganglia. The authors report three people with acute carbon monoxide poisoning manifesting selective or prominent white matter involvement complicated by hemorrhagic infarction on CT and MRI in one and by subcortical T2*-weighted MRI abnormality in all three.
Article
Selective insult to brain deep gray matter nuclei is uncommon, may be congenital or acquired, acute or chronic, and varied in etiology. Determining the etiology relies on history, clinical presentation, laboratory investigations, and lesion pattern on Neuroimaging. We review the differential diagnosis and clinical, laboratory and neuroimaging patte...
Article
We prospectively acquired clinical data regarding the presentation, evaluation, and developmental progress of all patients identified with dissociated motor maturation to define their clinical outcomes. Children (N = 8) referred for evaluation of suspected cerebral palsy because of delayed sitting or walking and identified to have dissociated motor...
Article
To determine whether the clinical features of neonatal seizures are of value in predicting outcome. Demographic features, clinical seizure types, etiologic factors, and laboratory findings of all 77 patients with seizures admitted to our neonatal intensive care unit over a consecutive 7-year period were extracted from the medical records. Twenty-th...
Article
We undertook a retrospective analysis of epilepsy patients referred and treated for more than 6 months with the ketogenic diet during 1994-1999 at Connecticut Children's Medical Center. Outcome measures included antiepileptic drug number, seizure frequency, electroencephalogram background/paroxysmal activity, and adverse effects at 6 months and 1 y...
Article
We examined adrenergic controlled cutaneous blood flow and temperature regulation in Prader-Willi syndrome. A body mass index was calculated for each participant. Thermal and laser Doppler finger probes were applied for continuous simultaneous surface temperature and capillary blood flow recording. Analysis with respect to group, age, body mass ind...
Article
An analysis of patients followed with a diagnosis of neurofibromatosis-1 and headache was conducted. Characterization of headache type was done after chart review of 81 patients with neurofibromatosis-1 and headache. Consent was obtained for subsequent telephone interviews using a standardized questionnaire concerning the onset, characteristics, ti...
Article
The clinical and neurophysiologic findings of two children presenting with focal weakness and atrophy in unusual nerve distributions and no apparent antecedent injuries are reported. Patient 1 presented with a droopy left shoulder that was initially attributed to scoliosis. Patient 2 presented with right biceps brachii atrophy that was first brough...
Article
To investigate the relationships between brain and skull base growth in patients with neurofibromatosis 1 (NF1) compared with healthy control subjects using brain magnetic resonance imaging (MRI) for morphometric analysis. Evaluated patients included children who underwent T1- and T2-weighted or dual-echo proton density axial and T1-weighted sagitt...
Article
A 3-day-old infant presented with anorexia, irritability, hypotonia, and seizures. Blood ammonia was 2115 micromol/L and amino and organic acid analyses were consistent with ornithine transcarbamylase deficiency. Liver biopsy confirmed only 1% enzyme activity. The patient was treated with hemodialysis. An electroencephalogram (EEG) revealed multifo...
Article
In this pilot study we investigated the hypothesis that intrinsic and extrinsic brainstem lesions situated within the pontomedullary region would effect the integrity of respiratory sinus arrhythmia. The study sample consisted of three patients with anatomic brainstem abnormalities associated with isolated Chiari I malformation, Chiari II malformat...
Article
A 12-year-old male developed progressive proximal upper extremity weakness over a 3- to 4-year period. The clinical findings of proximal upper extremity weakness and atrophy, prominent scapular winging, and no sensory deficits or upper motor neuron signs suggested a neuromuscular disorder. Electromyography was consistent with a chronic denervating...
Article
In this study we investigated centrally mediated parasympathetic regulation of modulated cardiac vagal tone among children with severe cyanotic and pallid breath-holding spells by examining respiratory sinus arrhythmia. Respiratory sinus arrhythmia was evaluated in 41 children; 17 subjects with cyanotic breath-holding spells (6 boys, 11 girls; mean...
Article
To define the evolution of identified high-signal brain parenchymal lesions on magnetic resonance imaging (MRI) studies in patients with neurofibromatosis type 1 (NF-1). A cohort of patients with NF-1 who underwent MRI were identified prospectively and their imaging studies analyzed. All referred patients with NF-1 (as defined by National Institute...
Article
In this study we sought to investigate parasympathetic activity among children with severe cyanotic breath-holding spells by examining respiratory sinus arrhythmia. The study sample was composed of two groups of patients, 16 subjects with cyanotic breath-holding spells (5 male, 11 female; mean age, 37.5 mo) and 17 controls (8 male, 9 female; mean a...
Article
We examined family pedigrees of children with severe breath-holding spells (SBHS). There were 57 probands (27 males, 30 females; 44 cyanotic, 13 pallid) whose families comprised 1683 individuals. We found that 31 (27%) of 114 proband parents and 9 (21%) of 43 proband siblings had current or prior SBHS. Father-to-son transmission was observed in 7 i...
Article
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 w...
Article
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. Patients selected for evaluation included pediatric patients who underwent T1 and T2 or dual-echo, proton-density axial T1- and T2-weighted and T1...
Article
A 6-month, open, randomized study was performed to evaluate different dosage regimens for maintenance therapy with omeprazole in patients refractory to treatment with standard histamine2 (H2)-blockers. One hundred two patients with gastric and/or duodenal ulcers, unhealed after 8 weeks of full-dose H2-antagonist treatment but healed after a further...
Article
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 ga...
Article
As a factor favoring relapses, noncompliance is particularly crucial to the treatment of peptic ulcer disease, and greater efforts should be made to eliminate or reduce it. To investigate the reasons for noncompliance, we performed two clinical trials involving a total of 592 patients with duodenal ulcer treated with various H 2 antagonists for 12...
Article
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...
Article
An 8-week, multicenter, randomized, double-blind study was performed with the aim of comparing nizatidine 300 mg at bedtime with nizatidine 150 mg twice daily (BID) and with ranitidine 150 mg twice daily in 114 patients with benign acute gastric ulcer. Healing rates did not significantly differ among groups at 4 weeks, but they were lower in the on...
Article
A retrospective study of 31 consecutive bleeding duodenal ulcer (DU) patients and, as controls, 62 active DU subjects without bleeding episodes was conducted in order to ascertain whether bleeding DU patients have particular clinical or functional characteristics. The patients were followed for 15.6 and 17.4 months, respectively, after diagnosis. T...
Article
We describe an image segmentation method applied to multi-echo MR images which is unsupervised in that the analyst need not specify prototypical tissue signatures to guide the segmentation. It is well known that different tissue types may be distinguished by their signatures in NMR parameter space (spin density and relaxation parameters T1 and T2)....
Article
which are coiiceptually related to the usual strictly stationary random process[1]. In the following,the term homogeneous field should be taken to mean wide-sense homogeneous field. Sometimes,imaging literature will interchange the terms stationary and homogeneous[2]. This is unfortunatebut unavoidable in an imaging context.Unless peculiar imaging...
Article
We describe an image segmentation method applied to multi-echo MR images which is unsupervised in that the analyst need not specify prototypical tissue signatures to guide the segmentation. It is well known that different tissue types may be distinguished by their signatures in NMR parameter space (spin density and relaxation parameters T1 and T2)....
Article
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 (subclav...
Article
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,...
Article
Genetic factors, particularly group A pepsinogen (PGA) and certain blood groups, seem to play a considerable part in the heterogeneity of ulcer disease, especially with regard to duodenal ulcer. The aim of this study was to evaluate serum PGA levels both in patients with duodenal ulcer and in various family members, thereby confirming possible corr...