scholarly journals SURGICAL TREATMENT OF FOCAL FORMS OF CONGENITAL HYPERINSULINISM: IS ALL CLEAR?

2020 ◽  
Vol 23 (6) ◽  
pp. 296-302
Author(s):  
Anna A. Sukhotskaya ◽  
V. G. Bairov ◽  
I. L. Nikitina ◽  
D. V. Ryzhkova ◽  
L. B. Mitrofanova ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Motor Development ◽  
Complete Recovery ◽  
Psychomotor Development ◽  
Research Centre ◽  
Complete Relief ◽  
Positive Trend ◽  
Congenital Hyperinsulinism ◽  
Focal Lesions ◽  
Partial Pancreatectomy

Introduction. 30-60% of all patients with congenital hyperinsulinism have a delayed psychomotor development, and 15-25% of them have severe organic brain damage, including epilepsy. Timely diagnostics and intensive treatment can prevent severe neurological complications. With the ineffectiveness of conservative therapy, surgical treatment is a necessary alternative. Objective. To define indications for various options of surgical correction of focal forms of congenital hyperinsulinism. Material and Methods. In the Department of Pediatric Surgery of V.A. Almazova National Medical Research Centre, in 2017-03.2019, 14 children with focal forms of congenital hyperinsulinism were operated after analyzing their PET-CT findings; in 2 patients out of them they were doubtful. Results. 13 (93%) patients had a complete relief of hyperinsulinism and a significant improvement in their psycho-motor development. 10 (71%) of 14 children had a complete recovery; 1 (7%) - a significant positive trend. 3 (21%) patients needed insulin therapy with minimal dosages. They all were children with an atypical (mixed adenomatous-diffuse) form of hyperinsulinism. Conclusions. In case of focal lesions in the pancreas, partial pancreatectomy with maximal preservation of healthy tissue, defined by the express biopsy, and with any lesion localization is indicated. For atypical forms, the volume for pancreatectomy dissection is defined individually.

scholarly journals Congenital hyperinsulinism in newborns and young children: the state of the problem and the results of surgical treatment

2021 ◽  
pp. 226-239
Author(s):  
A. A. Sukhotskaya ◽  
V. G. Bairov ◽  
I. L. Nikitina ◽  
L. B. Mitrofanova ◽  
A. A. Perminova ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Correct Diagnosis ◽  
Psychomotor Development ◽  
Research Centre ◽  
Complete Relief ◽  
Congenital Hyperinsulinism ◽  
Biochemical Basis ◽  
Intravenous Glucose ◽  
Partial Pancreatectomy ◽  
Pet Ct

Congenital hyperinsulinism causes irreversible damage to the cerebral cortex with subsequent disability in children. The article presents the features of etiopathogenesis, clinical picture of the disease. The histological variants of pancreatic lesions are analyzed in detail. The principles of correct diagnosis are formulated. A new in Russia method for the preoperative determination of the histological form of the disease, which is carried out at the y, Almazov National Medical Research Centre since 2017, – PET/ CT with 18F-DOPA, explained the biochemical basis of its clinical application and the examination technique. The principles of the selection of drug therapy with possible complications, the need for an adequate assessment of its effectiveness are described. If it is impossible to achieve a stable target euglycemia without the need for intravenous glucose infusion, surgical correction of the disease is indicated. In schematic drawings and intraoperative photographs, approaches to surgical treatment are described, the stages of operations and possible complications are clearly disassembled. The results of surgical interventions at the N.N. V.A. Almazov for 01.2017–02.2021, where 39 children with congenital hyperinsulinism were operated on. According to PET/CT with 18F-DOPA, 15 diffuse and 24 focal forms were diagnosed. After surgery, in 12 (31%) patients, a diffuse lesion of the gland was confirmed, in 23 (59%) – a focal nature of the lesion, in 4 (10%) – an atypical form was diagnosed intraoperatively. Of 39 children, 36 (92%) have complete relief of hyperinsulinism, a significant improvement in psychomotor development, of which 9 (23%) need insulin replacement therapy with minimal dosages, these are 8 children with a diffuse form of the disease and 1 child with an atypical one. Intraand postoperative complications were not observed. Thus, partial pancreatectomy for focal forms, subtotal for atypical and near total for diffuse forms, can cope with hypoglycemia due to congenital hyperinsulinism and prevent damage to the central nervous system of newborns and infants.

scholarly journals SURGICAL TREATMENT OF ATIPICAL FORMS OF CONGENITAL HYPERINSULINISM

2020 ◽  
Vol 24 (2) ◽  
pp. 83-88
Author(s):  
A. A. Sukhotskaya ◽  
V. G. Bairov ◽  
L. B. Mitrofanova ◽  
D. V. Ryzhkova ◽  
I. L. Nikitina ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Motor Development ◽  
Medical Center ◽  
Neurological Complications ◽  
Psychomotor Development ◽  
Complete Relief ◽  
Congenital Hyperinsulinism ◽  
National Medical ◽  
Pet Ct ◽  
Organic Brain

Introduction. 30-60% of all patients with congenital hyperinsulinism have a delayed psychomotor development, and 15-25% of them have a severe organic brain damage, including epilepsy. The timely diagnostics and intensive care can prevent severe neurological complications. If the conservative therapy is not effective, then the surgical treatment is a need. Objective: To demonstrate features of surgical correction of atypical forms of congenital hyperinsulinism. Material and methods. 11 children with atypical forms of congenital hyperinsulinism were operated on in the department of pediatric surgery in the V.A. Almazov National Medical Center in 2017-03.2019. Results. 2 children demonstrated a complete relief of hyperinsulinism in 9 months (1.5 years) of follow-up; one patient had a significant improvement of his psycho-motor development. Conclusion. Some children with presumably focal forms of hyperinsulinism, by PET-CT findings, may have histologically atypical forms. In the atypical lesion of the pancreas, an intraoperative biopsy dramatically changes the planned volume of pancreatectomy up to almost total removal of the gland.

scholarly journals Dependence of pancreas resection volume on PET-tomography and express biopsy findings

2021 ◽  
Vol 25 (1) ◽  
pp. 11-18
Author(s):  
A. A. Sukhotskaya ◽  
V. G. Bairov ◽  
A. A. Perminova ◽  
L. B. Mitrofanova ◽  
I. L. Nikitina ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Imaging Techniques ◽  
Research Centre ◽  
Differential Diagnostics ◽  
Subtotal Resection ◽  
Congenital Hyperinsulinism ◽  
Partial Pancreatectomy ◽  
Pet Ct ◽  
Diffuse Form ◽  
Group 2

Introduction. Recently, achievements in molecular genetics, imaging techniques (PET/CT), medicamentous therapy as well as in surgical treatment have promoted a better control of hypoglycemia and, consequently, better outcomes in children with congenital hyperinsulinism.Purpose. To specify indications, volume and outcomes of surgical treatment in patients with congenital hyperinsulinism depending on pathology form, differential diagnostics with PET / CT and intraoperative express biopsy.Material and methods. 41 children with congenital hyperinsulinism were operated in the department of pediatric surgery in Almazov National Medical Research Centre (Saint-Petersburg) during 2011 – September 2020. In Group 1, there were 6 children who had standard treatment with subtotal resection of the pancreas (95%). In Group 2, there were 35 patients who had PET tomography with 18-F-DOPA before surgery and intraoperative express biopsy of pancreas tissue. The analyzed patients were operated on in 2017-September 2020. PET tomography with 18-F-DOPA findings revealed that these children had 10 diffuse forms and 22 focal forms; the other 3 children had a disputable picture.Results. After surgery, diffuse form was confirmed in 10 (29%) children; focal form - in 21 (60%) children; 4 (11%) patients had the atypical form which was diagnosed intraoperatively. Of 35 children from Group 2, 33 (94%) had complete hyperinsulinism reversal, significant improvement in their psycho-motor function; however, 10 (29%) of them require insulin replacement therapy with minimal dosages - 8 children with the diffuse form of hyperinsulinism and 2 children with the atypical one. There were no intra- and postoperative complications. 20 (95%) out of 21 children with focal forms recovered completely. The authors also describe problems and peculiarities of urgent histological examination.Conclusion. Thus, partial pancreatectomy in focal forms, subtotal in atypical ones and almost total in diffuse forms allows to cope with hypoglycemia caused by congenital hyperinsulinism.

scholarly journals SURGICAL TREATMENT OF THE CONGENITAL HYPERINSULINISM: A PRELIMINARY ANALYSIS

2019 ◽  
Vol 23 (3) ◽  
pp. 124-127
Author(s):  
Anna A. Sukhotskaya ◽  
V. G. Bairov ◽  
I. L. Nikitina ◽  
D. V. Ryzhkova ◽  
L. B. Mitrofanova ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Pediatric Surgery ◽  
Preliminary Analysis ◽  
Imaging Techniques ◽  
Complete Recovery ◽  
Congenital Hyperinsulinism ◽  
Partial Pancreatectomy ◽  
Pet Ct ◽  
The Central Nervous System ◽  
Diffuse Form

Introduction. Advances in molecular genetics, imaging techniques (PET/CT), medicamentous therapy and surgical treatment in the recent decades have improved hypoglycemia control and , thus, improved treatment outcomes in children with congenital hyperinsulinism. Purpose. To define indications for different techniques of surgical correction in patients with congenital hyperinsulinism depending on the disease form. Material and methods. 23 children were operated on for congenital hyperinsulinism in the department of pediatric surgery in the Almazov Medical Research Center from 2011 till 2018. In 2011-2016, 5 children were operated on by the standard approach which included subtotal pancreas resection (95%). Since 2017, PET tomography with 18-F-DOPA and intraoperative rapid biopsy of the pancreas have been introduced into the curative algorithm. In 2017-2018, 18 children were operated: 6 patients with the diffuse form and 10 - with the focal one. Two more children had controversial outcomes. Results. Fifteen children (83%) had complete hyperinsulinism control and significant improvement in their psycho-motor function. Out of 18 children, 10 (56%) had a complete recovery: among them - 8 (89%) out of 9 children with the focal form of hyperinsulinism and 2 (22%) out of 9 children with the diffuse form. Two children (11%) had a marked positive dynamics. Six patients (33%) needed insulin therapy with minimal dosages - all were children with the diffuse form of hyperinsulinism (6 (67% ) out of 9). Conclusion. Partial pancreatectomy in patients with focal forms or subtotal pancreatectomy in patients with diffuse and atypical forms allow to eliminate hypoglycemia caused by the congenital hyperinsulinism and to prevent damage to the central nervous system in newborns and infants.

scholarly journals Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism

2013 ◽  
Vol 2013 ◽  
Author(s):  
Suresh Chandran ◽  
Fabian Yap Kok Peng ◽  
Victor Samuel Rajadurai ◽  
Yap Te Lu ◽  
Kenneth T E Chang ◽  
...  
Keyword(s):  
Ct Scan ◽  
Severe Hypoglycaemia ◽  
Congenital Hyperinsulinism ◽  
List Type ◽  
Focal Lesions ◽  
Hyperinsulinaemic Hypoglycaemia ◽  
Partial Pancreatectomy ◽  
Diffuse Disease ◽  
Pet Ct ◽  
Pet Ct Scan

Summary background: Congenital hyperinsulinism (CHI) is a rare genetic disorder characterised by inappropriate insulin secretion in the face of severe hypoglycaemia. There are two histological subtypes of CHI namely diffuse and focal. Diffuse CHI is most common due to recessive mutations in ABCC8/KCNJ11 (which encode the SUR/KIR6.2 components of the pancreatic β-cell KATP channel) whereas focal CHI is due to a paternally inherited ABCC8/KCNJ11 mutation and somatic loss of heterozygosity for the 11p allele inside the focal lesion. Fluorine-18-l-dihydroxyphenylalanine positron emission tomography/computed tomography (18F-DOPA-PET/CT) is used in the pre-operative localisation of focal lesions prior to surgery. Diffuse CHI if medically unresponsive will require a near total pancreatectomy whereas focal CHI will only require a limited lesionectomy, thus curing the patient from the hypoglycaemia. Aims: To report the first case of genetically confirmed CHI in Singapore from a heterozygous paternally inherited ABCC8 mutation. Methods/Results: A term male infant presented with severe hyperinsulinaemic hypoglycaemia (HH) after birth and failed medical treatment with diazoxide and octreotide. Genetic testing (paternally inherited mutation in ABCC8/p.D1472N) suggested focal disease, but due to the unavailability of 18F-DOPA-PET/CT to confirm focal disease, a partial pancreatectomy was performed. Interestingly, histology of the resected pancreatic tissue showed changes typical of diffuse disease. Conclusion: Heterozygous paternally inherited ABCC8/KCNJ11 mutations can lead to diffuse or focal CHI. Learning points HH is a cause of severe hypoglycaemia in the newborn period. Paternal mutations in ABCC8/KCNJ11 can lead to diffuse or focal disease. 18F-DOPA-PET/CT scan is the current imaging of choice for localising focal lesions. Gallium-68 tetra-aza-cyclododecane-N N′N″N-‴-tetra-acetate octreotate PET scan is not a useful imaging tool for localising focal lesions. The molecular mechanism by which a heterozygous ABCC8 mutation leads to diffuse disease is currently unclear. Focal lesions are curable by lesionectomy and so genetic studies in patients with HH must be followed by imaging using 18F-DOPA-PET/CT scan.

scholarly journals Laparoscopic resections of the pancreas in children with hyperinsulinism

2021 ◽  
Vol 24 (6) ◽  
pp. 363-369 ◽  
Author(s):  
Yu. Yu. Sokolov ◽  
M. A. Melikyan ◽  
A. M. Efremenkov ◽  
D. N. Gubaeva ◽  
V. R. Druzhinin ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Professional Education ◽  
Intraoperative Complications ◽  
Rapid Development ◽  
Pancreatic Head ◽  
Research Centre ◽  
Somatostatin Analogue ◽  
Congenital Hyperinsulinism ◽  
Inherited Disease ◽  
Distal Common Bile Duct

Introduction. Congenital hyperinsulinism (CHI) is an inherited disease characterized by severe persistent hypoglycemia in the neonatal period due to insulin hypersecretion and rapid development of neurologic and systemic disorders. There are two main CHI forms: a diffuse one when hyper functioning of beta-cells affect the whole pancreas, and a focal one, characterized by an area of intact parenchyma. Currently, surgery is an acknowledged approach in focal forms, while in diffuse CHI forms surgical treatment is prescribed only in severe pharmacoresistant cases.Material and methods. A total of 11 patents with CHI, aged 1.5 - 26 months, had laparoscopic pancreatic resections at the department of pediatric surgery of Russian Medical Academy of Continuous Professional Education. All patients were examined , treated and prepared for surgery at the Endocrinology Research Centre ( Moscow). The focal CHI form was diagnosed in 3 children; the diffuse one - in 8 patients. In the focal CHI form, a focal resection was done: laparoscopic corpocaudal resection of the pancreas – 2 patients; resection of the pancreatic head with Roux–en-Y pancreaticojejunostomosis - 1 child. All children with diffused disease had laparoscopic near-total (98%) pancreatectomy.Results. In all cases, there were no intraoperative complications. Stenosis of the distal common bile duct developed in one child after the resection of pancreatic head which required a laparoscopic cholecystoduodenoanastomosis. There were no other complications. Two children with focal CHI were reported to recover completely; one patient suffered of hypoglycemia attacks not related to the increased insulin production. In diffuse cases, a stable euglycemia was achieved in 2 patients; 3 children had recurrent hypoglycemia attacks which required Somatostatin analogue therapy. One patient developed diabetes mellitus. In this case, follow-up period lasted for 2 months which is too short to assess the endocrinological outcome.Conclusion. The article presents the first Russian experience of laparoscopic pancreas resection in children with CHI. The laparoscopic approachcan be successfully applied in the surgical treatment of children with CHI.

A Case Report on Congenital Hyperinsulinism

2020 ◽  
Vol 34 (3) ◽  
pp. 170-171
Author(s):  
Sandip Pagdar ◽  
Kunj Jobanputra ◽  
Mohit Sahni
Keyword(s):  
Case Report ◽  
Surgical Treatment ◽  
Genetic Study ◽  
Homozygous Deletion ◽  
Congenital Hyperinsulinism ◽  
Heterozygous Deletion ◽  
Partial Pancreatectomy ◽  
Initial Management ◽  
Abcc8 Gene ◽  
Gene Study

Introduction: Congenital hyperinsulinism (CH) is the most common reason for persistent hypoglycemia in neonates. Insulin levels increased inappropriately in the presence of hypoglycemia. Initial management is nonsurgical, but if it fails then partial pancreatectomy is done, which is a surgical procedure. Objective: To report newborn with CH and update medical and/or surgical treatment. Case report: It is reporting of a term newborn with severe symptomatic hypoglycemia not responding to medical treatment. Gene study was done—ABCC8 gene has been identified as homozygous deletion of exon 13 and parents ger08Y—showing heterozygous deletion of exon 13. Genetic study was consistent with focal CH. Discussion: This report presents diagnosis and clinical features of CH.

scholarly journals Principal Component Analysis of Munich Functional Developmental Diagnosis

2021 ◽  
Vol 13 (2) ◽  
pp. 227-233
Author(s):  
Grażyna Pazera ◽  
Marta Młodawska ◽  
Jakub Młodawski ◽  
Kamila Klimowska
Keyword(s):  
Principal Component Analysis ◽  
Social Skills ◽  
Motor Development ◽  
Three Dimensional ◽  
Principal Component ◽  
Component Analysis ◽  
Three Dimensions ◽  
Matrix Analysis ◽  
Psychomotor Development ◽  
First Year Of Life

Objectives: Munich Functional Developmental Diagnosis (MFDD) is a scale for assessing the psychomotor development of children in the first months or years of life. The tool is based on standardized tables of physical development and is used to detect developmental deficits. It consists of eight axes on which the following skills are assessed: crawling, sitting, walking, grasping, perception, speaking, speech understanding, social skills. Methods: The study included 110 children in the first year of life examined with the MFDD by the same physician. The score obtained on a given axis was coded as a negative value (defined in months) below the child’s age-specific developmental level. Next, we examined the dimensionality of the scale and the intercorrelation of its axes using polychoric correlation and principal component analysis. Results: Correlation matrix analysis showed high correlation of MFDD axes 1–4, and MFDD 6–8. The PCA identified three principal components consisting of children’s development in the areas of large and small motor skills (axis 1–4), perception (axis 5), active speech, passive speech and social skills (axis 6–8). The three dimensions obtained together account for 80.27% of the total variance. Conclusions: MFDD is a three-dimensional scale that includes motor development, perception, and social skills and speech. There is potential space for reduction in the number of variables in the scale.

scholarly journals Neuropsychological development of children with biliary atresia after liver transplantation

2021 ◽  
Vol 23 (3) ◽  
pp. 66-72
Author(s):  
A. V. Syrkina ◽  
I. E. Pashkova ◽  
A. R. Monakhov ◽  
O. V. Silina ◽  
E. V. Chekletsova ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Surgical Treatment ◽  
Biliary Atresia ◽  
Psychomotor Development ◽  
Two Stage ◽  
Neuropsychological Development ◽  
One Stage ◽  
The Difference ◽  
Group 2 ◽  
Group 1

Background. In young children, the most common liver disease leading to transplantation is biliary atresia. Liver transplantation has fundamentally improved the survival rate of children with biliary atresia. Studies on developmental outcomes in children are mostly limited to small samples; there are no such studies in the Russian Federation.Objective: to determine the cognitive outcomes in children undergoing one-stage or two-stage surgical treatment of biliary atresia.Materials and Methods. 83 children were divided into groups: 36 children underwent transplantation without previous surgical interventions (group 1), 47 children underwent the Kasai palliative portoenterostomy (group 2). Inclusion criteria: 24 months of age or younger at the moment of transplantation, no medical history of neurological pathology. All children were examined before transplantation and at 1, 3, 6 and 12 months after liver transplantation. Psychomotor development was assessed using the Griffiths Psychomotor Development Scale for children under 24 months (translated by E.S. Keshishian), the Griffiths Intellectual Development Scale for children aged 2 to 8 years, and the Modified Checklist for Autism in Toddlers, Revised, for children 16-30 months old.Results. All children had developmental delays at the time of transplantation. Up to 50% of the children had signs of cachexia, with a shoulder circumference of less than 3 percentile. Only two children showed obvious hepatic encephalopathy in the form of depressed consciousness. After liver transplantation, 94% of group 1 children recovered their preoperative psychomotor development levels, and only 68% in group 2 made these gains. At 3 and 6 months after transplantation, about 80% of group 1 children showed normal psychomotor development, whereas in group 2, only 61% did. By 12 months after liver transplantation, the difference between the groups was more evident: 83.3% of group 1 children and only 53.2% of group 2 children were developing according to age. The difference between the groups was statistically significant (p < 0.05).Conclusion. Children who received one-stage treatment of biliary atresia and underwent liver transplantation have better neuropsychological development within a year after surgery than children with two-stage surgical treatment.

scholarly journals BENIGN PAROXYSMAL POSITIONAL VERTIGO;

2012 ◽  
Vol 19 (03) ◽  
pp. 336-340
Author(s):  
SOHAIL BABAR NIAZI ◽  
Muhammad TAHIR ◽  
Muhammad Ali BHATTI
Keyword(s):  
Experimental Study ◽  
Benign Paroxysmal Positional Vertigo ◽  
Complete Recovery ◽  
Military Hospital ◽  
Complete Relief ◽  
Chi Square ◽  
Positional Vertigo ◽  
Quasi Experimental ◽  
Chi Square Test ◽  
Paroxysmal Positional Vertigo

Objective: To compare the efficacy of Vestibular sedative versus Epley manoeuvre in the management of benign paroxysmalpositional vertigo. Study design: Interventional Quasi experimental study. Place and duration of study: This study was conducted in ENTOPD Combined Military Hospital Rawalpindi from 1st January 2008 till 30th June 2008. Results: In this study out of 30 cases managed byvestibular sedative, 10 cases showed complete relief of symptoms after 01 month. Out of 30 cases managed by Epley manoeuvre, 28 casesshowed complete recovery after 01 month. The results were compared by Chi square test, as the data was mainly qualitative in nature. Theresults of both the groups were compared on day 3, day 7 and day 30, which revealed that Epley manoeuvre, is more effective than vestibularsedative in treatment of BPPV. Conclusions: Epley manoeuvre is more effective than vestibular sedative for treating the patients of benignparoxysmal positional vertigo.

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