scholarly journals Lower fasting blood glucose in neurofibromatosis type 1

2016 ◽  
Vol 5 (1) ◽  
pp. 28-33 ◽  
Author(s):  
Aline Stangherlin Martins ◽  
Ann Kristine Jansen ◽  
Luiz Oswaldo Carneiro Rodrigues ◽  
Camila Maria Matos ◽  
Marcio Leandro Ribeiro Souza ◽  
...  
Keyword(s):  
Blood Glucose ◽  
Neurofibromatosis Type 1 ◽  
Fasting Blood Glucose ◽  
Neurofibromatosis Type ◽  
Control Group ◽  
Adult Health ◽  
Main Criterion ◽  
Clinical Records ◽  
Age Range

Studies indicate a lower occurrence of diabetes mellitus (DM) in patients with neurofibromatosis type 1 (NF1). Fasting blood glucose (FBG) level is the main criterion used to diagnose DM and glucose intolerance. Therefore, this study compared FBG level between adults with NF1 and non-NF1 controls. We selected clinical records of 57 out of 701 individuals attending the Neurofibromatosis Outpatient Reference Center of the Clinics Hospital of the Federal University of Minas Gerais in Brazil. The selected patients with NF1 were matched to non-NF1 controls selected from the Brazilian Longitudinal Study of Adult Health according to sex, age (range, 35–74 years) and BMI at a ratio of 1:3. In both groups, individuals with DM were excluded. Median FBG level in the NF1 group (86 mg/dl (range, 56–127 mg/dl)) was lower than that in the non-NF1 control group (102 mg/dl (range, 85–146 mg/dl)) (P<0.001). Prevalence of FBG level ≥100 mg/dl in the NF1 group (16%) was lower than that in the non-NF1 control group (63%) (P<0.05). The chance of a high FBG level was 89% lower in the NF1 group (odds ratio, 0.112; 95% CI, 0.067–0.188) (P<0.05). In conclusion, adults with NF1 showed a lower FBG level and a lower prevalence of high FBG level compared with non-NF1 controls.

Neuroretinal Dysfunction in Patients Affected by Neurofibromatosis Type 1

2021 ◽  
Author(s):  
Antonietta Moramarco ◽  
Luca Lucchino ◽  
Fabiana Mallone ◽  
Michela Marcelli ◽  
Ludovico Alisi ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Healthy Subjects ◽  
Cyclic Adenosine Monophosphate ◽  
Adenosine Monophosphate ◽  
Neurofibromatosis Type ◽  
Implicit Time ◽  
Control Group ◽  
Ophthalmological Examination ◽  
Significant Difference

Abstract The aim of the study was to examine neuroretinal function by using the mfERG test in patients with neurofibromatosis type 1 (NF1) without optic pathway gliomas (OPGs). This study was conducted on 35 patients (35 eyes) with NF1 and 30 healthy subjects (30 eyes) for the control group. Each subject underwent a complete ophthalmological examination including multifocal electroretinography (mfERG). 1.5-Tesla magnetic resonance imaging (MRI) scan of the brain was performed in NF1 patients to assess the presence of OPGs. All participants were recruited having a best corrected visual acuity (BCVA) of no less than 20/20 in each eye. The amplitude and implicit time of the P1 wave (first-order Kernel component) were evaluated on mfERG. Data analysis was carried out in the two central degrees and in the four quadrants from two to 25 degrees of visual field. Statistically significant results were obtained for the P1 wave amplitudes in the 4 quadrants in NF1 patients compared to healthy subjects, while the reduction was not significant in the 2 central degrees. A statistically significant difference was observed among the P1 wave amplitudes as recorded in the 4 quadrants within the NF1 group, with lower amplitudes in the nasal quadrants. No differences in the implicit times were recorded in the 4 quadrants and in the 2 central degrees as compared between NF1 patients and controls. The present study demonstrates impaired neuroretinal function in NF1 patients. Altered intracellular signal transduction due to abnormal neurofibromin-mediated cyclic adenosine monophosphate (cAMP) generation, could be involved. Our results suggest a possible use of mfERG as subclinical retinal damage indicator with a potential utility in clinical practice for the follow-up of NF1 patients.

Biometric and refractive errors evaluation in patients with neurofibromatosis type 1

2020 ◽  
pp. 112067212093440
Author(s):  
Aldo Vagge ◽  
Paolo Corazza ◽  
Roberta Vagge ◽  
Giulia Agosto ◽  
Michele Iester ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Healthy Subjects ◽  
Corneal Thickness ◽  
Neurofibromatosis Type ◽  
Controlled Study ◽  
Control Group ◽  
Refractive Errors ◽  
P Values ◽  
Healthy Control

Purpose: To analyze biometric changes and prevalence of refractive in patients with neurofibromatosis type 1 (NF1). Methods: Retrospective, case-controlled study involving patients affected by NF1 and healthy control subjects. Data on biometric measurements such as axial length (AL), central corneal thickness (CCT), anterior chamber depth (ACD), lens thickness (LT), keratometry (K1 and K2) values, and white-to-white (WTW), obtained by use of optical low-coherence reflectometry on a Lenstar LS 900® (Haag-Streit AG, Switzerland) were collected and analyzed. Cycloplegic refractions were then performed. Results: Overall, 166 eyes of 83 patients diagnosed with NF1 (mean age 21.6 ± 9.8) were enrolled and compared with 178 eyes of age-matched healthy subjects (mean age 22.6 ± 6.6). One hundred sixty-six (22.8%) and 33 of 178 (18.5%) eyes were myopic in NF1 patients and healthy subjects, respectively. The prevalence of hyperopia in the NF1 group was 12 of 166 (7.2%) whereas in the healthy control group was 14 of 178 (8.9%). Twenty-nine of 166 (17.4%) and 34 of 178 (19.1%) eyes presented astigmatism in NF1 and control group, respectively. These differences were not statistically significant ( p-values > 0.05). Refractive errors such as myopia, hyperopia, and astigmatism were similar between the two groups. The difference of AL, CCT, ACD, LT, K values, and WTW were no statistically significant between the two groups ( p-values > 0.05). Conclusion: Refractive errors and ocular biometric parameter seem not to be an addition findings of NF1.

The Effectiveness of a Hospital-Based School Liaison Program: A Comparative Study of Parental Perception of School Supports for Children With Pediatric Cancer and Neurofibromatosis Type 1

2018 ◽  
Vol 35 (4) ◽  
pp. 276-286 ◽  
Author(s):  
Lisa Northman ◽  
Marybeth Morris ◽  
Caitlyn Loucas ◽  
Sarah Ross ◽  
Anna C. Muriel ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Positive Impact ◽  
Neurofibromatosis Type ◽  
Control Group ◽  
Learning Needs ◽  
School Based ◽  
Increased Risk ◽  
School Supports ◽  
Childhood Survivors

Childhood survivors of central nervous system (CNS) cancers (defined as cancers whose diagnosis or treatment affect the CNS) are at increased risk for educational related difficulties, as are children affected by neurofibromatosis type 1. This study evaluated the effectiveness of and satisfaction with a model of psychoeducation, consultation, and advocacy provided by a School Liaison Program (SLP) for families and schools of children with CNS-involved cancers compared with a control group of parents of children with a diagnosis of neurofibromatosis type 1 who did not receive school-based services. Results indicated significant between-group differences in parents’ belief that their child is meeting academic potential, with parents who received SLP services reporting greater satisfaction with their child’s progress, better understanding of their child’s learning needs, and an increased ability to access school supports. The strong, positive impact associated with the consultation, psychoeducation, and parental advocacy training provided by the SLP suggests that a similar model of care would potentially benefit other groups of children whose neurocognitive functioning is compromised by chronic medical conditions.

Neurofibromatosis Type 1 of the head and neck: dilemmas in management

2001 ◽  
Vol 115 (2) ◽  
pp. 151-154 ◽  
Author(s):  
Fernando Rapado ◽  
Ricard Simo ◽  
Mike Small
Keyword(s):  
Head And Neck ◽  
Malignant Transformation ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Assessment And Monitoring ◽  
Abnormal Bleeding ◽  
Age Range ◽  
Dominant Condition

Neurofibromatosis type 1 (NF 1) or Von Recklinghausen’s disease is an autosomal dominant condition characterized by multiple skin cafe´-au-lait lesions and multiple neurofibromas. In the head and neck neurofibromas have a predilection to arise in th deep planes of the neck. Surgical management is nearly always required for functional or cosmetic reasons or to exclude the possibility of malignant transformation. We present four cases of neurofibroma of the head and neck and illustrate the difficulties inherent in managing this condition, particularly the age range in which it may occur, the risk of malignant transformation, the possibility of abnormal bleeding and the morbidity that may be associated with the surgical resection. The role of magnetic resonance (MR) scan in the assessment and monitoring of these lesions is highlighted. We also report a unique association of a pharyngeal pouch with NF 1 in a young (25-year-old) patient.

Executive dysfunction in children with neurofibromatosis type 1: A study of action planning

2010 ◽  
Vol 16 (6) ◽  
pp. 1056-1063 ◽  
Author(s):  
ARNAUD ROY ◽  
JEAN-LUC ROULIN ◽  
VALERIE CHARBONNIER ◽  
PHILIPPE ALLAIN ◽  
LUCIANO FASOTTI ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Parental Education ◽  
Action Planning ◽  
Executive Dysfunction ◽  
Neurofibromatosis Type ◽  
Learning Problems ◽  
Parental Education Level ◽  
Determining Factors ◽  
Age Range

AbstractIn this study, we tested the hypothesis that action planning is impaired in children with neurofibromatosis type 1 (NF1). Thirty-six children with NF1 were pair-matched to 36 healthy controls (HC) on age (range, 7–12 years), sex, and parental education level, and both groups were administered three action-planning tasks. To examine the relation of task performance to attention deficit hyperactivity disorder (ADHD), the NF1 group was divided into subsets of children who met or did not meet criteria for ADHD. Children with NF1 performed less well than HC on all planning tasks, and differences remained when controlling for IQ or a measure of visuospatial skill. Both the NF1 with ADHD subset and NF1 without ADHD subset performed more poorly than HC on two of the tasks, whereas only the NF1 with ADHD subset performed worse than HC on the third planning task. The results underscore the importance of evaluating executive function in children with NF1 and suggest that deficits in this domain may be only partially related to ADHD. Planning deficits in children with NF1 may be part of their cognitive phenotype. Identifying these deficits is relevant in determining factors contributing to learning problems and in developing appropriate interventions. (JINS, 2010, 16, 1056–1063.)

scholarly journals MON-080 Unusual Association Between Congenital Hyperinsulinism and Neurofibromatosis Type 1

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Andreea S Marinescu ◽  
Elizabeth A Suarez
Keyword(s):  
Growth Hormone ◽  
Blood Glucose ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Tumor Formation ◽  
Hormone Deficiency ◽  
Congenital Hyperinsulinism ◽  
Unusual Association ◽  
Increased Risk

Abstract Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant multisystemic disorder characterized by an increased risk of benign and malignant tumor formation affecting skin, bone and nervous system. In children with NF1, endocrine manifestations include central precocious puberty, growth hormone deficiency and growth hormone hypersecretion, resulting from complications of optic pathway gliomas involving the hypothalamic and sellar region. A few reports of adults with NF1 have been described to have hypoglycemia due to insulinoma. However, hypoglycemia due to hyperinsulinism has not been described in children with NF1. We present a case of NF1 diagnosed during neonatal period associated with congenital hyperinsulinism. Case: Patient was delivered at 36 weeks by C- section with birthweight of 2780 grams which was appropriate for her gestational age. There was no maternal history of diabetes. Pertinent exam findings included microcephaly and multiple café-au-lait spots. She developed hypoglycemia at DOL1 with blood glucose of 26 mg/dl which normalized with IV dextrose at a glucose infusion rate of 6 mg/kg/min. At DOL8, an attempt to wean IV dextrose failed and she developed hypoglycemia with blood glucose of 47 mg/dl. Critical sample showed insulin level 3.3 uU/ml, betahydroxybutyrate 0.08 mg/dl (0.2-2.8), cortisol 18.1 mcg/dL and GH 13.2 ng/mL. A glucagon stimulation test showed an increase in glucose of 30 mg/dl. She was diagnosed with hyperinsulinism and started on Diazoxide (8 mg/kg/day) with improvement of blood glucose with prefeed glucose of &gt; 70 mg/dl. She had normal 8- hour fasting tolerance with all BG &gt; 70 while on Diazoxide. Genetic test for known mutations causing hyperinsulinism was negative. Microarray confirmed a 1.42Mb interstitial deletion at chromosome 17q11.2 which encompasses NF1 gene confirming the diagnosis of NF1. Additionally, she has an Xp22.33 duplication of uncertain clinical significance. Conclusion: Our patient presented with an unusual association between congenital hyperinsulinism and NF1. Further testing needs to be performed to determine whether this association is coincidental or whether congenital hyperinsulinism is a rare manifestation of NF1.

scholarly journals Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Well Lennart ◽  
Careddu Anna ◽  
Stark Maria ◽  
Farschtschi Said ◽  
Bannas Peter ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Mutational Analysis ◽  
Clinical Symptoms ◽  
Clinical Care ◽  
Neurofibromatosis Type ◽  
Whole Body ◽  
Spinal Tumors ◽  
Control Group ◽  
Binary Logistic Regression Analysis

AbstractNeurofibromatosis Type 1 (NF1) has been reported to be associated with a variety of spinal abnormalities. The purpose of this study was to quantify the prevalence of spinal abnormalities in a collective of NF1 patients that is representative for the general NF1 population, to associate the co-appearance of spinal abnormalities with both NF1 and clinical symptoms and to investigate if different mutations of the NF1 gene affect the prevalence of these abnormalities. Retrospectively, 275 patients with NF1 and an age- and sex-matched collective of 262 patients were analyzed. The prevalence of spinal abnormalities was recorded. Mutational analysis of the NF1 gene was obtained in 235 NF1 patients. Associations between spinal abnormalities, clinical symptoms and genotype were investigated by binary logistic regression analysis. Prevalence of all spinal abnormalities was higher in NF1 patients than in the control group. Six characteristics of spinal abnormalities were significantly associated with NF1 (all p < 0.05). An influence of scalloping on scoliosis (OR 3.01; p = 0.002); of meningoceles (OR 7.63) and neuroforaminal tumors (OR 2.96) on scalloping, and of dural ectasia on neuroforaminal tumors (OR 1.93) was identified. Backpain and loss of motor function were associated with neuroforaminal tumors, spinal tumors and scalloping of vertebral bodies (all p < 0.05). Specific mutations of the NF1 gene were not relevantly associated with the development of spinal abnormalities. These findings can aid clinicians to improve clinical care of NF1 patients by creating awareness for co-appearences of specific spinal abnormalities and associated symptoms.

scholarly journals Attention and Motor Learning in Adult Patients with Neurofibromatosis Type 1

2021 ◽  
pp. 108705472110120
Author(s):  
Jesminne Castricum ◽  
Joke H. M. Tulen ◽  
Walter Taal ◽  
André B. Rietman ◽  
Ype Elgersma
Keyword(s):  
Motor Learning ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disorder ◽  
Clinical Importance ◽  
Neurofibromatosis Type ◽  
Learning Problems ◽  
Control Group ◽  
Intellectual Performance ◽  
Neuropsychological Tasks

Objective: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder that is associated with cognitive disabilities, including attention and motor learning problems. These disabilities have been extensively studied in children with NF1 but limited studies have been performed in adults. Method: Attention, motor learning and intellectual performance were studied with neuropsychological tasks in 32 adults with NF1 and 32 controls. Results: The NF1 and control group performed similarly on attention and motor learning tasks, although controls had shorter reaction times than adults with NF1 during the motor learning task ( t[60] = −2.20, p = .03). Measures of attention or motor learning were not significantly associated with reduced intellectual performance in NF1. Conclusion: In contrast to many studies in children with NF1, our findings did not provide evidence for presence of attention or motor learning problems in adults with NF1 in neuropsychological tasks. Our observations may be of clinical importance to determine treatment focus in adults with NF1.

scholarly journals Features of lipid, carbohydrate metabolism and renal function in patients with type 1 diabetes and different levels of albumin in the urine depending on the level of cystatin C

2021 ◽  
Vol 25 (1) ◽  
pp. 50-56
Author(s):  
Yu. O. Kryvoviaz ◽  
N. А. Shevchuk ◽  
N. M. Bandurka ◽  
І. V. Dzevulska ◽  
Yu. G. Shevchuk
Keyword(s):  
Blood Glucose ◽  
Total Cholesterol ◽  
Cystatin C ◽  
Glycated Hemoglobin ◽  
Fasting Blood Glucose ◽  
Control Group ◽  
Men And Women ◽  
Normal Ratio ◽  
Different Levels

Annotation. The aim of the study was to examine the differences in lipid, carbohydrate metabolism and renal function in patients with type 1 diabetes (T1D) with different levels of albumin in the urine depending on the level of cystatin C. The sample was 78 men and 62 women aged 22-26 years, T1D patients. The control group consisted of 8 almost healthy men and 13 almost healthy women of the same age. The level of microalbuminuria and cystatin C was determined in all patients by enzyme-linked immunosorbent assay. Biochemical evaluation of fasting glucose, fasting blood glucose, glucose 2 h after exercise, mean value of glucose, glycated hemoglobin, total cholesterol, triglycerides, GFR according to Cockcroft-Gault, CKD EPI and GFR according to cystatin C. Statistical processing of the obtained results was performed in the license package “Statistica 5.5”, using non-parametric evaluation methods. In T1D patients compared to the control group found significantly higher values – fasting blood glucose, glucose 2 hours after exercise, the average value of glucose, glycated hemoglobin, total cholesterol and triglycerides, cystatin C and lower values – international normal ratio, GFR according to Cockcroft-Gault, GFR by CKD EPI and GFR by cystatin C. With increasing levels of albumin in urine in patients with cystatin C<0.9, there were changes in the following indicators: higher values of total cholesterol in men with proteinuria compared to men with normo- and microalbumin ; and lower values – the international normal ratio in women with microalbuminuria, compared with women with normoalbuminuria; Cockcroft-Gault GFR in men with proteinuria and GFR by CKD EPI in men with proteinuria and microalbuminuria compared to men with normoalbuminuria. With increasing levels of albumin in the urine in patients with cystatin C>0.9 there were changes in the level of the following indicators: higher values – fasting blood glucose and triglycerides in women with proteinuria compared with women with normoalbuminuria, and glycated hemoglobin and total cholesterol compared with and microalbuminuria; international normal ratio in men with microalbuminuria, compared with men with normoalbuminuria; and smaller values – GFR level by Cockcroft-Gault in men with microalbuminuria compared to men with normoalbuminuria; GCF levels by Cockcroft-Gault in women with proteinuria compared to women with microalbuminuria and GFR levels by CKD EPI in women with proteinuria compared to women with normoalbuminuria and microalbuminuria. With increasing levels of cystatin C, a decrease in glycated hemoglobin in men and women with microalbuminuria and triglycerides in women with microalbuminuria, as well as greater values of the international normal ratio in men with normoalbuminuria and GFR on cystatin C in men and women with normoalbuminuria and micro. Thus, the study obtained results that indicate the existence of differences in the studied indicators between healthy and sick subjects, between men and women and between groups of T1D patients’ men or women with different levels of albumin and cystatin C.

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