scholarly journals Maffucci Syndrome, Calcium Homeostasis, and Endocrine Challenges in Management

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A701-A701
Author(s):  
Olivia Z B Ginnard ◽  
Lindsay C Burrage ◽  
Lefkothea P Karaviti
Keyword(s):  
Isocitrate Dehydrogenase ◽  
De Novo ◽  
Pediatric Population ◽  
Elevated Serum ◽  
The Body ◽  
Renal Ultrasound ◽  
Clearance Ratio ◽  
Maffucci Syndrome ◽  
Dexa Scan ◽  
Isocitrate Dehydrogenase 2

Abstract Maffucci syndrome is a rare disorder characterized by enchondromatosis and hemangiomata. It can occur due to sporadic, de novo, mosaic pathogenic variants in the gene encoding isocitrate dehydrogenase 1 (IDH1) or isocitrate dehydrogenase 2 (IDH2). IDH1 variants are associated with endocrine manifestations, such as pituitary adenomas. However, literature is limited in describing other clinical features and available treatments in severe phenotypes. We report a pediatric patient with uniquely complex and severe Maffucci syndrome. Case: A 5-year-old boy was evaluated by pediatric endocrinology for chronic hypercalcemia as part of a multidisciplinary evaluation of his severe Maffucci syndrome. Past medical history included prematurity, restrictive lung disease, developmental delay, seizures, 2-OH glutaric aciduria, angiomas, and bicytopenia. Physical exam revealed angiomas, scoliosis, and severe bony deformities throughout the entire skeleton. During admission, laboratory assays revealed normal parathyroid hormone, phosphorus, 1,25-OH2D, and C-telopeptide; elevated serum calcium and PTH-related peptide; and low 25-OHD, alkaline phosphatase, and osteocalcin. Low-dose ACTH stimulation test yielded a peak cortisol level of 16.8. A 24-hour urine study confirmed hypercalciuria. Renal ultrasound demonstrated nephrocalcinosis. Skeletal survey revealed diffuse and chondromatous changes of nearly every bone. Whole-exome sequencing detected a presumed, mosaic de novo IDH1 variant. DEXA scan revealed total body BMD z-score of -3.8. Discussion: Hypercalcemia in Maffucci syndrome is a rare phenomenon. The most likely etiology was due to the severe and chronic bony breakdown from the underlying progressive enchondromatosis. Subsequently, the body attempted to adapt to these chronic processes with abnormal mineral homeostasis, as seen in his laboratory assays. Chronic primary hyperparathyroidism was not likely, as his PTH, phosphorus, and 1,25 OH2D levels were not congruent with that diagnosis. Familial hypocalciuric hypercalcemia was not likely, as his urine calcium clearance ratio was >0.01. Finally, his slightly elevated PTHrP level was not due to PTHrP-mediated hypercalcemia of malignancy, as his bone marrow biopsy was negative. The options for short-term hypercalcemia management had their own inherent risks and were not suitable for long-term management. Although there is a lack of pediatric data to guide therapy in Maffucci syndrome, decision was made to proceed with bisphosphonate infusion given the benefits in the setting of his nephrocalcinosis, chronic hypercalcemia, and results of his DEXA scan. Given the rarity of Maffucci syndrome, few characteristics are well-described in the pediatric population. A multidisciplinary approach is necessary to review the severity of the disease and to determine the best treatment approach based on this information.

scholarly journals Hepatic Transcriptomics Reveals that Lipogenesis Is a Key Signaling Pathway in Isocitrate Dehydrogenase 2 Deficient Mice

Genes ◽  
2019 ◽  
Vol 10 (9) ◽  
pp. 728
Author(s):  
Jeong Hoon Pan ◽  
Jingsi Tang ◽  
Mersady C. Redding ◽  
Kaleigh E. Beane ◽  
Cara L. Conner ◽  
...  
Keyword(s):  
Lipid Metabolism ◽  
Isocitrate Dehydrogenase ◽  
De Novo ◽  
Nicotinamide Adenine Dinucleotide Phosphate ◽  
Tca Cycle ◽  
De Novo Lipogenesis ◽  
Oxidative Decarboxylation ◽  
Qpcr Analysis ◽  
Isocitrate Dehydrogenase 2 ◽  
Mice Liver

Mitochondrial nicotinamide adenine dinucleotide phosphate (NADP+)-dependent isocitrate dehydrogenase (IDH2) plays a key role in the intermediary metabolism and energy production via catalysing oxidative decarboxylation of isocitrate to α-ketoglutarate in the tricarboxylic acid (TCA) cycle. Despite studies reporting potential interlinks between IDH2 and various diseases, there is lack of effort to comprehensively characterize signature(s) of IDH2 knockout (IDH2 KO) mice. A total of 6583 transcripts were identified from both wild-type (WT) and IDH2 KO mice liver tissues. Afterwards, 167 differentially expressed genes in the IDH2 KO group were short-listed compared to the WT group based on our criteria. The online bioinformatic analyses indicated that lipid metabolism is the most significantly influenced metabolic process in IDH2 KO mice. Moreover, the TR/RXR activation pathway was predicted as the top canonical pathway significantly affected by IDH2 KO. The key transcripts found in the bioinformatic analyses were validated by qPCR analysis, corresponding to the transcriptomics results. Further, an additional qPCR analysis confirmed that IDH2 KO caused a decrease in hepatic de novo lipogenesis via the activation of the fatty acid β-oxidation process. Our unbiased transcriptomics approach and validation experiments suggested that IDH2 might play a key role in homeostasis of lipid metabolism.

scholarly journals Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome

2016 ◽  
Vol 124 (6) ◽  
pp. 1562-1567 ◽  
Author(s):  
Shuyu Hao ◽  
Christopher S. Hong ◽  
Jie Feng ◽  
Chunzhang Yang ◽  
Prashant Chittiboina ◽  
...  
Keyword(s):  
Pituitary Adenoma ◽  
Dna Sequencing ◽  
Isocitrate Dehydrogenase ◽  
Pituitary Adenomas ◽  
Somatic Mosaicism ◽  
Intracranial Tumors ◽  
Isocitrate Dehydrogenase 1 ◽  
Maffucci Syndrome ◽  
Suprasellar Region ◽  
Isocitrate Dehydrogenase 2

Maffucci syndrome is a rare disease characterized by multiple enchondromas and soft-tissue hemangiomas. Additionally, neuroendocrine tumors including pituitary adenomas have been described in these patients. The underlying genetic etiology lies in somatic mosaicism of mutations in isocitrate dehydrogenase 1 (IDH1) or isocitrate dehydrogenase 2 (IDH2). This report describes a patient with Maffucci syndrome who presented with intracranial tumors of the skull base and suprasellar region. The patient underwent resection of both intracranial tumors, revealing histopathological diagnoses of chondrosarcoma and pituitary adenoma. DNA sequencing of the tumors was performed to identify common IDH1/2 mutations. Clinical, radiological, and biochemical assessments were performed. Genotypic studies used standard Sanger sequencing in conjunction with a target-specific peptide nucleic acid to detect IDH1 mutations in tumor tissues. DNA sequencing demonstrated identical IDH1 mutations (c.394C > T) in both tumors. To the authors’ knowledge, this report provides the first genetic evidence for the inclusion of pituitary adenomas among tumors characterizing Maffucci syndrome. In patients who are newly diagnosed with Maffucci syndrome, it is appropriate to monitor for development of pituitary pathology and neuroendocrine dysfunction.

A Worthwhile Collaboration: Integrating Optometry and Occupational Therapy in the Treatment of Children

2020 ◽  
pp. 221-236
Keyword(s):  
Occupational Therapy ◽  
Professional Growth ◽  
Interprofessional Collaboration ◽  
Pediatric Population ◽  
Occupational Therapists ◽  
The Body ◽  
Collaborative Practice ◽  
Primary Data ◽  
Visual Deficits ◽  
Vision Deficits

Background: Vision deficits are highly prevalent in children with neurodevelopmental disorders including those with motor delays, learning and reading difficulties, and maladaptive behaviors. These deficits can interfere with their participation and performance in everyday life activities and therefore, require a comprehensive approach to therapy. As such, optometrists and occupational therapists are an optimal team to provide interprofessional collaborative care, reported in research as best practice, in the treatment of these children. However, little is known about the long-called-for collaboration between these professions. The purpose of this study was to explore factors and implications associated with a collaborative practice between optometrists and occupational therapists in the co-management of vision deficits in the pediatric population. Methods: A qualitative, descriptive design was employed to explore perceptions of collaborative practice among teams of optometrists and occupational therapists in the remedial care of children with visual deficits. Following IRB approval, co-located optometrists and occupational therapists were recruited for this study. Semistructured interviews served as the primary data collection tool to investigate the factors and implications of collaborative practice. Results: Eleven professionals provided informed consent and took part in this study, including five occupational therapists and six optometrists. Following thematic analysis, four overarching themes emerged including 1) professional boundaries, 2) co-located, integrated practice, 3) professional growth, and 4) improved patient care. Participants indicated that although barriers exist, exercising humility, upholding patient-centered focus, maintaining mutual respect, communicating frequently, and co-location were factors that enable collaboration. Positive outcomes related to both the provider and the patient were further highlighted supporting the interprofessional collaboration between these professionals. Conclusions: The findings of this qualitative study add to the body of evidence underpinning interprofessional collaborative practice. Furthermore, this study supports the coordination of care, through optometry and occupational therapy collaboration, in the treatment of visual deficits in children with special needs.

Asymmetric Dopaminergic Dysfunction in Brain-First versus Body-First Parkinson’s Disease Subtypes

2021 ◽  
pp. 1-11
Author(s):  
Karoline Knudsen ◽  
Tatyana D. Fedorova ◽  
Jacob Horsager ◽  
Katrine B. Andersen ◽  
Casper Skjærbæk ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
De Novo ◽  
Specific Binding ◽  
Asymmetry Index ◽  
The Body ◽  
Specific Binding Ratio ◽  
Dat Spect ◽  
Vagal Innervation ◽  
Nigrostriatal Degeneration

Background: We have hypothesized that Parkinson’s disease (PD) comprises two subtypes. Brain-first, where pathogenic α-synuclein initially forms unilaterally in one hemisphere leading to asymmetric nigrostriatal degeneration, and body-first with initial enteric pathology, which spreads through overlapping vagal innervation leading to more symmetric brainstem involvement and hence more symmetric nigrostriatal degeneration. Isolated REM sleep behaviour disorder has been identified as a strong marker of the body-first type. Objective: To analyse striatal asymmetry in [18F]FDOPA PET and [123I]FP-CIT DaT SPECT data from iRBD patients, de novo PD patients with RBD (PD +RBD) and de novo PD patients without RBD (PD - RBD). These groups were defined as prodromal body-first, de novo body-first, and de novo brain-first, respectively. Methods: We included [18F]FDOPA PET scans from 21 iRBD patients, 11 de novo PD +RBD, 22 de novo PD - RBD, and 18 controls subjects. Also, [123I]FP-CIT DaT SPECT data from iRBD and de novo PD patients with unknown RBD status from the PPPMI dataset was analysed. Lowest putamen specific binding ratio and putamen asymmetry index (AI) was defined. Results: Nigrostriatal degeneration was significantly more symmetric in patients with RBD versus patients without RBD or with unknown RBD status in both FDOPA (p = 0.001) and DaT SPECT (p = 0.001) datasets. Conclusion: iRBD subjects and de novo PD +RBD patients present with significantly more symmetric nigrostriatal dopaminergic degeneration compared to de novo PD - RBD patients. The results support the hypothesis that body-first PD is characterized by more symmetric distribution most likely due to more symmetric propagation of pathogenic α-synuclein compared to brain-first PD.

scholarly journals The Accuracy of Broselow Tape Weight Estimate among Pediatric Population

2016 ◽  
Vol 2016 ◽  
pp. 1-8 ◽  
Author(s):  
Turki M. AlHarbi ◽  
Abdullaziz AlGarni ◽  
Fasial AlGamdi ◽  
Mona Jawish ◽  
Tariq Ahmad Wani ◽  
...  
Keyword(s):  
Body Weight ◽  
Pediatric Population ◽  
Body Height ◽  
Age Groups ◽  
Cross Sectional Study ◽  
The Body ◽  
Accurate Estimation ◽  
Cross Sectional ◽  
Actual Weight ◽  
Medical City

Objective.To determine the accuracy of the Broselow Tape (BT) versions 2007 and 2011 in estimating weight among pediatric population.Methods.A cross-sectional study was conducted at King Fahad Medical City and six schools across Riyadh province on 1–143-month-old children. BT 2007 and 2011 estimated weights were recorded. Both tapes via the child’s height produce an estimated weight, which was compared with the actual weight.Results.A total of 3537 children were recruited. The height (cm) of the subjects was97.7±24.1and the actual weight (kg) was16.07±8.9, whereas the estimated weight determined by BT 2007 was15.87±7.56and by BT 2011 was16.38±7.95. Across all the five age groups, correlation between actual weight and BT 2007 ranged between 0.702 and 0.788, while correlation between actual weight and BT 2011 ranged between 0.698 and 0.788. Correlation between BT 2007 and BT 2011 across all the five age groups ranged from 0.979 to 0.989. Accuracy of both the tape versions was adversely affected when age was >95 months and body weight was >26 kilograms.Conclusions.Our study showed that BT 2007 and 2011 provided accurate estimation of the body weight based on measured body height. However, 2011 version provided more precise estimate for weight.

scholarly journals CORRELAÇÃO ENTRE OBESIDADE/SOBREPESO E PRESSÃO ARTERIAL ELEVADA EM ESCOLARES DE UMA CIDADE DO INTERIOR DE SÃO PAULO

2019 ◽  
Vol 11 (1) ◽  
pp. 51-56
Author(s):  
Marcelo José Alves ◽  
Victor Hugo Santos Zangirolamo ◽  
Carlos Augusto Carvalho Filho ◽  
Everton Alex Carvalho Zanuto ◽  
Diane de Vasconcelos Barrionuevo ◽  
...  
Keyword(s):  
Risk Factors ◽  
Blood Pressure ◽  
Body Mass Index ◽  
Body Weight ◽  
Standard Deviation ◽  
Physical Inactivity ◽  
Pediatric Population ◽  
The Body ◽  
Chronological Age ◽  
Hemodynamic Variables

Currently the Brazilian pediatric population has been exposed to risk factors caused by physical inactivity and poor diet, resulting in an increase in the Body Mass Index (BMI), which can lead to vascular problems even in childhood. The objectivewasto verify the influence of BMIon pressure levels. The sample consisted of 61 children of both sexes, chronological age between six and seven years and regularly enrolled/attending school. These children were evaluated in their hemodynamic variables (systolic -SBP and diastolic –DBP blood pressure), body weight, and height. Mean and standard deviation of participants' ages were 7±0.3 years, SBP had 89.4±10 and DBP of 57±6.9, eutrophic patients had 88.7±1.1 for SBP and 56±5 for DBP,and for those with overweight/obesityof109±5 for SBP and 70.7±8.2 for PAD(p=0.0001).Pearson's correlation for BMI with SBP and DBP was moderate for both, but with beta of 1.53 in linear regression for SBP and 0.96 for DBP. It was concluded thatBMI directly influences systolic and diastolic blood pressure levels and the control of overweight / obesity is necessary at the initial ages of life

scholarly journals SAT-682 Unusual Presentation of Diabetic Ketoacidosis Associated with Hypernatremia in Adult Patient

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Asma Khaled Aljaberi ◽  
Fatemeh Hazin
Keyword(s):  
Lactic Acid ◽  
Adult Patient ◽  
Diabetic Ketoacidosis ◽  
Water Movement ◽  
Pediatric Population ◽  
Elevated Serum ◽  
Insulin Regimen ◽  
Close Monitoring ◽  
Osmotic Diuresis ◽  
Residual Symptoms

Abstract Diabetic ketoacidosis (DKA) is an acute, life threatening complication of diabetes characterized by hyperglycemia, ketonemia and acidosis. It is known to commonly present with hyponatremia and rarely with hypernatremia. DKA can present with hypernatremia in pediatric population which carries poor prognosis when present. We present a 27 year- old Ethiopian lady, previously healthy who was brought to emergency department (ED) with decreased level of consciousness. She had polyuria and polydipsia associated with weight loss for 1 month and flu like symptoms for 3 days prior to admission. On day of presentation, she was found to be confused, sleepy and not able to recognize people around her. In ED, patient was confused, GCS 8 severely dehydrated with poor skin turgor and marked delay in capillary refill >3s. Patient was afebrile, with HR 115 bpm, BP 95/60mmHg, and BMI 20kg/m2. Initial labs revealed; severe acidosis pH 6.8, blood glucose (BG) >38 mmol/l and corrected Na 155 mmol/l. Calculated serum osmolality 357mOsm/kg, lactic acid 5 mmol/l and HCO3 3 mmol/l. Further labs revealed K 4.4 mmol/l, Urea 10 mmol/l, Cr 150 micromole/l, WBC 26 and Ketones 3+ in urine. DKA was diagnosed and treated in ED with 4L IVF (2L bolus NaCl and other 2L of 0.23% NaCl given at 15 ml/hr) and NaHCO3 150 mmol. Continuous insulin regular infusion at rate of 0.1U/Kg/hr as per protocol was initiated. Patient was admitted to ICU for close monitoring of BG, GCS and electrolytes. After 9 hours of management, patient GCS improved to 13-14. Repeated labs revealed; improvement in PH 7.17, BG 22mmol/l, HCO3 5 mmol/l and lactic acid 1 mmol/l. There was worsening of Na 159 mmol/l and K dropped to 2.6 mmol/l. IV KCL bolus 20mmol followed by 40mmol IV continuous in IVF was initiated. IVF was changed from NaCl to D5W at 125ml/hr. Electrolytes were repeated after 7 hours and showed improvement in and Na and k levels. During her stay in ICU, patient recovered to baseline GCS 15 with no residual symptoms. IV insulin infusion was stopped on 3rd day and commenced on Insulin glargine and insulin Aspart boluses. Further investigations confirmed DM type 1; HbA1c 15%, C-peptide 0.08 nmol/l, IA2Ab of >400 and GAD Ab >250. Patient had an uneventful hospital course, she stayed in ICU for 3 days and then shifted to medical floor. She was discharged on basal bolus insulin regimen. In patients with uncontrolled DM/DKA, serum Na level is variable, reflecting the balance between the hyperglycaemia induced water movement out of the cells that lowers serum Na level, and the glycosuria induced osmotic diuresis, which tends to raise serum Na. When there is marked osmotic diuresis, DKA may present with a normal or even elevated serum Na concentration, despite a markedly elevated serum BG. To best of our knowledge, this is the second case to report an unusual DKA presenting with hypernatremia in adult patient.

Influence of the Basal Metabolic Profile on the Evolution of the Pediatric Patient with Obesity

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Fernández Fernandez B ◽  
◽  
Sarasua Miranda ◽  
Lorente Blazquez I ◽  
Diez López ID ◽  
...  
Keyword(s):  
Physical Activity ◽  
Childhood Obesity ◽  
Physical Exercise ◽  
Fat Mass ◽  
Pediatric Population ◽  
Fat Content ◽  
The Body ◽  
Basal Metabolism ◽  
Protection Factor

Purpose: To study how basal metabolism influences the somatometric evolution of the child and adolescent population with obesity in a pediatric endocrinology clinic. Material and Methods: Study of the entire population diagnosed with childhood obesity in a tertiary hospital by means of a multichannel impedanceometry study, TANITA BF 430. Results: 100 patients were selected by chance and studied from a database with 1400 records. Most of the patients who attend to these consultations for obesity are girls, between 8 and 11 years old. All the patients studied had a basal metabolism lower than the calculated theoretical ideal. The group of boys at the beginning of their follow-up showed a higher basal metabolism and more similar than the group of girls. Girls had a higher amount of fat mass compared to boys at the beginning of their follow up. After their first year of follow-up, both groups achieved a decrease in the percentage of fat mass, double in the case of boys compared to girls. After three years of the study, it was observed that 54% of the boys achieved a reduction in their FM compared to 36% of the girls. In overall terms, weight reduction is not achieved in this pediatric population. However it is observed a decrease in fat content in the medium term (1-3 years). The reduction of this fat mass could be a protection factor against cardiovascular diseases in adults. Given the same adherence to nutritional programs, it is believed that physical exercise rates influence this reduction. It was also observed that the most relevant data in the evolution of obesity in these patients is the basal metabolism that they present at the beginning of their follow-up. Discussion: Childhood obesity is a problem of increasing importance in our society. Understanding its characteristics would allow different strategies to be taken for a better treatment and diagnosis of these cases. Boys, in general, achieve a greater reduction in fat mass in the same follow-up time. Due to sexual dimorphism, or a higher rate of physical activity. Bioelectrical impedanceometry measurement is a simple, cheap and easy to use method in clinical practice to evaluate the energy consumption and the body composition of the patient. In “healthy child” health programs and even in schools, an impedanceometry machine could be purchased to focus physical activity efforts on those boys and girls with a lower basal metabolism, adding a greater consumption factor such as physical exercise. Thus, it would be possible to increase the requirements and the basal metabolism of the patient would increase, favoring the loss of fat mass. Regarding the use of conventional scales, in this type of patients, if we only look at the weight variable, a bias could be created since it would not be noticed that there has been a decrease in fat content at the cost of an increase in muscle mass. Conclusion: We consider that it should be recommendable to supply with a multichannel impedanceometry every pediatric endocrine consultation room as it is a non-invasive, and easy-to-use test that can provide a great amount of information about the evolution of these patients, since we believe that focusing efforts on those boys and girls who have a worse basal metabolism could contribute to improving the efficiency and effectiveness of the scarce health resources that we have.

Influence of the Basal Metabolic Profile on the Evolution of the Pediatric Patient with Obesity

2021 ◽  
Author(s):  
Belén Fernández ◽  
Ainhoa Sarasua Miranda ◽  
Isabel Lorente Blázquez ◽  
Ignacio Diez López
Keyword(s):  
Body Composition ◽  
Childhood Obesity ◽  
Pediatric Population ◽  
Tertiary Hospital ◽  
The Body ◽  
Basal Metabolism ◽  
Pediatric Endocrinology ◽  
Simple Method ◽  
Endocrinology Clinic

Childhood obesity is a problem of growing importance globally. It is associated with significant health problems. Knowing how to treat it effectively would improve the quality of life of these children. The aim of this chapter is to study how basal metabolism influences the somatometric evolution of the child and adolescent population with obesity in a pediatric endocrinology clinic. Study childhood obesity in a tertiary hospital by means of a multichannel impedanceometry study. All the patients had a basal metabolism lower than the calculated theoretical ideal. In overall terms, weight reduction is not achieved in this pediatric population. However, it is observed a decrease in fat content in the medium term (1-3 years). Bioelectrical impedanceometry measurement is a simple method in clinical practice to evaluate the energy consumption and the body composition. Knowing the body composition of these children would help to intervene more effectively to help control obesity and its health consequences.

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