{"title":"Special Issue","authors":"S. Beshyah","doi":"10.1055/s-0043-1769596","DOIUrl":"https://doi.org/10.1055/s-0043-1769596","url":null,"abstract":"","PeriodicalId":294186,"journal":{"name":"Journal of Diabetes and Endocrine Practice","volume":"22 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127004534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Background Glucocorticoid-induced hyperglycemia is a problem-facing endocrinologists and internal medicine specialists in hospital wards. Case History A 63-year-old woman with type 2 diabetes was admitted to the hospital with acute exacerbation of chronic obstructive airway disease. She was treated with a short course of intravenous hydrocortisone followed by oral prednisolone. On discharge, she attended her regular diabetes consultation. Throughout the period, she had her flash glucose monitoring (FGM) sensor in place, and she was monitoring her blood glucose regularly. As part of her diabetes clinic routine, the meter data uploaded and ambulatory glucose profiles were examined. These revealed three distinctly different blood glucose levels before, during, and after glucocorticoid therapy. Glucocorticoid therapy resulted in a marked rise in blood glucose that lasted for a further week before it returned to the pre-treatment levels. This old phenomenon has yet to be demonstrated using the new FGM technology. Conclusions The story (1) asserts the significant impact of glucocorticoid therapy on glycemic control, (2) demonstrates the prolonged impact on glycemic control following discontinuation of glucocorticoids, (3) suggests a lack of adequate monitoring and timely recognition of hyperglycemia in the hospital, and poor management glucocorticoid-induced hyperglycemia either due to failure of conventional monitoring methods or a degree of complacency to appreciate its magnitude.
{"title":"An Old Theme and New Technology: Marked Glucocorticoid-Induced Hyperglycemia in a Hospitalized Patient Uncovered Retrospectively by Her Flash Glucose Monitoring","authors":"S. Beshyah","doi":"10.1055/s-0043-1761198","DOIUrl":"https://doi.org/10.1055/s-0043-1761198","url":null,"abstract":"Abstract Background Glucocorticoid-induced hyperglycemia is a problem-facing endocrinologists and internal medicine specialists in hospital wards. Case History A 63-year-old woman with type 2 diabetes was admitted to the hospital with acute exacerbation of chronic obstructive airway disease. She was treated with a short course of intravenous hydrocortisone followed by oral prednisolone. On discharge, she attended her regular diabetes consultation. Throughout the period, she had her flash glucose monitoring (FGM) sensor in place, and she was monitoring her blood glucose regularly. As part of her diabetes clinic routine, the meter data uploaded and ambulatory glucose profiles were examined. These revealed three distinctly different blood glucose levels before, during, and after glucocorticoid therapy. Glucocorticoid therapy resulted in a marked rise in blood glucose that lasted for a further week before it returned to the pre-treatment levels. This old phenomenon has yet to be demonstrated using the new FGM technology. Conclusions The story (1) asserts the significant impact of glucocorticoid therapy on glycemic control, (2) demonstrates the prolonged impact on glycemic control following discontinuation of glucocorticoids, (3) suggests a lack of adequate monitoring and timely recognition of hyperglycemia in the hospital, and poor management glucocorticoid-induced hyperglycemia either due to failure of conventional monitoring methods or a degree of complacency to appreciate its magnitude.","PeriodicalId":294186,"journal":{"name":"Journal of Diabetes and Endocrine Practice","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121442534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Diabetes insipidus (DI) is a disorder characterized by excretion of large amounts of hypotonic urine. In clinical practice, the differential diagnosis comprises four entities.1 Aworking group representing national and international endocrinology, nephrology, and pediatric societies has recently proposed changing the name of “diabetes insipidus.” The group released an editorial simultaneously in several international journals.2–6 No representation of any of the developing regions was evident. However, since these proposals would most likely be accepted in clinical practice and scholarly communications worldwide, this commentary aims to increase global dissemination with a particular focus on the Middle East and North Africa (MENA) region since resistance to change has been demonstrated in the region.7 The working group reviewed the historical context, discussed the rationale for this proposed name change, and outlined the practical steps for implementing the name change. These are highlighted below with some MENA perspectives.2–6
{"title":"Changing the Name of Diabetes Insipidus: A Middle Eastern Perspective","authors":"S. Beshyah","doi":"10.1055/s-0043-1763277","DOIUrl":"https://doi.org/10.1055/s-0043-1763277","url":null,"abstract":"Diabetes insipidus (DI) is a disorder characterized by excretion of large amounts of hypotonic urine. In clinical practice, the differential diagnosis comprises four entities.1 Aworking group representing national and international endocrinology, nephrology, and pediatric societies has recently proposed changing the name of “diabetes insipidus.” The group released an editorial simultaneously in several international journals.2–6 No representation of any of the developing regions was evident. However, since these proposals would most likely be accepted in clinical practice and scholarly communications worldwide, this commentary aims to increase global dissemination with a particular focus on the Middle East and North Africa (MENA) region since resistance to change has been demonstrated in the region.7 The working group reviewed the historical context, discussed the rationale for this proposed name change, and outlined the practical steps for implementing the name change. These are highlighted below with some MENA perspectives.2–6","PeriodicalId":294186,"journal":{"name":"Journal of Diabetes and Endocrine Practice","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129120104","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Introduction Celiac disease (CD) is highly prevalent in patients with type 1 diabetes mellitus (T1DM). However, the rate of CD in Syrian children and adolescents with T1DM is unknown. We aimed to investigate the prevalence and characteristics of CD in our unprivileged rural community. Methods Children and adolescents with T1DM who were regularly followed in a private endocrine clinic in Raqqa City, Syria, were evaluated from October 2018 to November 2021. Screening for CD was performed using either anti-tissue transglutaminase antibodies, antideaminated gliadin antibodies, or endomysial antibodies. Patients with positive results were referred for duodenal biopsy using Marsh classification whenever possible. The prevalence of CD was calculated for both seropositive and biopsy-proven cases. Results Ninety-four patients with T1DM, 51 (54.3%) females, were included. The mean age was 11.6 years, and mean hemoglobin A1c (HbA1C) was 9.2%. All patients were screened for CD. Fourteen patients (14.9%) were positive, and seven (7.4%) performed a duodenal biopsy that proved positive for CD in all cases. CD seropositivity was more common in female than male patients (21.6 vs. 7%, respectively, p -value <0.05). Patients with seropositivity for CD had lower hemoglobin levels compared to seronegative patients, with a mean difference of 0.87 (95% confidence interval: 0.2–1.5; p -value <0.05). There was a statistically significant correlation between hypothyroidism and celiac seropositivity ( p -value <0.05). There were no differences in age, weight, height, HbA1C, puberty status, or duration of diabetes between patients with and without CD. No correlation was identified between the incidence of hypoglycemia or diabetic ketoacidosis and the presence of CD. Conclusion In our community, we revealed a high prevalence of CD in Syrian children and adolescents with T1DM. Our results are alarming and point to the need for establishing a national CD registry to prompt physicians for proper screening and early management in high-risk populations.
{"title":"Celiac Disease in Syrian Children and Adolescents with Type 1 Diabetes Mellitus: A Cross-Sectional Study","authors":"I. Alali, B. Afandi","doi":"10.1055/s-0043-1768462","DOIUrl":"https://doi.org/10.1055/s-0043-1768462","url":null,"abstract":"Abstract Introduction Celiac disease (CD) is highly prevalent in patients with type 1 diabetes mellitus (T1DM). However, the rate of CD in Syrian children and adolescents with T1DM is unknown. We aimed to investigate the prevalence and characteristics of CD in our unprivileged rural community. Methods Children and adolescents with T1DM who were regularly followed in a private endocrine clinic in Raqqa City, Syria, were evaluated from October 2018 to November 2021. Screening for CD was performed using either anti-tissue transglutaminase antibodies, antideaminated gliadin antibodies, or endomysial antibodies. Patients with positive results were referred for duodenal biopsy using Marsh classification whenever possible. The prevalence of CD was calculated for both seropositive and biopsy-proven cases. Results Ninety-four patients with T1DM, 51 (54.3%) females, were included. The mean age was 11.6 years, and mean hemoglobin A1c (HbA1C) was 9.2%. All patients were screened for CD. Fourteen patients (14.9%) were positive, and seven (7.4%) performed a duodenal biopsy that proved positive for CD in all cases. CD seropositivity was more common in female than male patients (21.6 vs. 7%, respectively, p -value <0.05). Patients with seropositivity for CD had lower hemoglobin levels compared to seronegative patients, with a mean difference of 0.87 (95% confidence interval: 0.2–1.5; p -value <0.05). There was a statistically significant correlation between hypothyroidism and celiac seropositivity ( p -value <0.05). There were no differences in age, weight, height, HbA1C, puberty status, or duration of diabetes between patients with and without CD. No correlation was identified between the incidence of hypoglycemia or diabetic ketoacidosis and the presence of CD. Conclusion In our community, we revealed a high prevalence of CD in Syrian children and adolescents with T1DM. Our results are alarming and point to the need for establishing a national CD registry to prompt physicians for proper screening and early management in high-risk populations.","PeriodicalId":294186,"journal":{"name":"Journal of Diabetes and Endocrine Practice","volume":"55 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115500022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Pituitary hormones are responsible for the regulation of growth, development, metabolism, reproduction, and homeostasis. Hypopituitarism is a condition that is defined as partial or complete insufficiency of anterior pituitary hormone secretion, and rarely, posterior pituitary hormone secretion. This condition can result from diseases of the pituitary gland or the hypothalamus. The annual incidence of hypopituitarism has been estimated to be 4.2 per 100,000 yearly, and the prevalence has been estimated at 45.5 per 100,000. The symptoms of hypopituitarism vary. The onset is insidious and depends on the number of hormone deficiencies and their degree of severity. Pituitary hormone deficiency can result in substantial clinical changes that increase the risk of morbidity and mortality. People commonly report persistent symptoms and a decline in their quality of life, both of which can be explained, at least in part, by the inherent shortcomings of hormone replacement strategies in their ability to imitate the normal hormone secretion processes. The diagnosis of hypopituitarism can be straightforward by measuring the lowered basal hormone levels. In cases where the basal hormone levels are uncertain or partial hormone deficiencies have been identified, it may be necessary to perform provocative testing of the hypothalamic–pituitary axis. The hypothalamus and pituitary region can be imaged using magnetic resonance imaging, which provides useful anatomical information. When necessary, genetic studies may be added to the diagnostic approach. The treatment consists of physiological replacement of the individual end-organ hormone deficiencies, and careful monitoring is required throughout the patient's entire life. Individualized hormone replacement therapy that considers potential interactions is recommended. This article provides an overview of the pathophysiology, clinical presentation, general diagnostic guidelines, and treatment options of hypopituitarism.
{"title":"Hypopituitarism in Adults: Rational Approaches to Diagnosis and Treatment","authors":"Mussa H. Almalki","doi":"10.1055/s-0043-1768587","DOIUrl":"https://doi.org/10.1055/s-0043-1768587","url":null,"abstract":"Abstract Pituitary hormones are responsible for the regulation of growth, development, metabolism, reproduction, and homeostasis. Hypopituitarism is a condition that is defined as partial or complete insufficiency of anterior pituitary hormone secretion, and rarely, posterior pituitary hormone secretion. This condition can result from diseases of the pituitary gland or the hypothalamus. The annual incidence of hypopituitarism has been estimated to be 4.2 per 100,000 yearly, and the prevalence has been estimated at 45.5 per 100,000. The symptoms of hypopituitarism vary. The onset is insidious and depends on the number of hormone deficiencies and their degree of severity. Pituitary hormone deficiency can result in substantial clinical changes that increase the risk of morbidity and mortality. People commonly report persistent symptoms and a decline in their quality of life, both of which can be explained, at least in part, by the inherent shortcomings of hormone replacement strategies in their ability to imitate the normal hormone secretion processes. The diagnosis of hypopituitarism can be straightforward by measuring the lowered basal hormone levels. In cases where the basal hormone levels are uncertain or partial hormone deficiencies have been identified, it may be necessary to perform provocative testing of the hypothalamic–pituitary axis. The hypothalamus and pituitary region can be imaged using magnetic resonance imaging, which provides useful anatomical information. When necessary, genetic studies may be added to the diagnostic approach. The treatment consists of physiological replacement of the individual end-organ hormone deficiencies, and careful monitoring is required throughout the patient's entire life. Individualized hormone replacement therapy that considers potential interactions is recommended. This article provides an overview of the pathophysiology, clinical presentation, general diagnostic guidelines, and treatment options of hypopituitarism.","PeriodicalId":294186,"journal":{"name":"Journal of Diabetes and Endocrine Practice","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125904781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Rickets, a growth plate disorder, is classified into calcipenic and phosphopenic types based on the etiology. Phosphopenic rickets can be further classified into fibroblast growth factor 23 (FGF23) mediated and non-FGF23 mediated. FGF-23 has a phosphaturic effect which results in hypophosphatemia and, therefore, the accumulation of hypertrophied chondrocytes, leading to rachitic changes in the bones. One of the most common causes of inherited hypophosphatemic rickets is X-linked hypophosphatemia (XLH), mainly due to a mutation in the PHEX gene that ends in the extended release of FGF-23. During the 60th annual meeting of the European Society for Pediatric Endocrinology, held in Rome between September 15 and 19, 2022, approximately 15 presentations were made either as free communication or poster. In addition, there was a dedicated satellite symposium focusing on XLH. This article has been prepared mainly to share knowledge and updates discussed during the meeting about hypophosphatemic rickets, as we feel this disease is still to be focused on in the MENA region, since there are some gaps in the recognition and management of FGF23 hypophosphatemic rickets and osteomalacia.
{"title":"X-Linked Hypophosphatemia at the European Society of Pediatric Endocrinology Meeting 2022","authors":"H. Alsaffar, Hajar Dauleh, Khadija Ali","doi":"10.1055/s-0043-1768977","DOIUrl":"https://doi.org/10.1055/s-0043-1768977","url":null,"abstract":"Abstract Rickets, a growth plate disorder, is classified into calcipenic and phosphopenic types based on the etiology. Phosphopenic rickets can be further classified into fibroblast growth factor 23 (FGF23) mediated and non-FGF23 mediated. FGF-23 has a phosphaturic effect which results in hypophosphatemia and, therefore, the accumulation of hypertrophied chondrocytes, leading to rachitic changes in the bones. One of the most common causes of inherited hypophosphatemic rickets is X-linked hypophosphatemia (XLH), mainly due to a mutation in the PHEX gene that ends in the extended release of FGF-23. During the 60th annual meeting of the European Society for Pediatric Endocrinology, held in Rome between September 15 and 19, 2022, approximately 15 presentations were made either as free communication or poster. In addition, there was a dedicated satellite symposium focusing on XLH. This article has been prepared mainly to share knowledge and updates discussed during the meeting about hypophosphatemic rickets, as we feel this disease is still to be focused on in the MENA region, since there are some gaps in the recognition and management of FGF23 hypophosphatemic rickets and osteomalacia.","PeriodicalId":294186,"journal":{"name":"Journal of Diabetes and Endocrine Practice","volume":"39 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126767467","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
N. Ismaeil, Ammar G. Chaudhary, N. A. Mahdi, Adel M. Al-Hyari, N. Aljohani
Abstract Background The prevalence of cardiovascular disease and its risk factors are rising globally, including in the Kingdom of Saudi Arabia (KSA). The majority of epidemiologic data, however, was obtained from primary care centers or tertiary hospitals, and disease epidemiology in the general population needs to be better defined. Objective: This study aims to determine the prevalence of cardiometabolic risk factors in a random sample of adult volunteers in Jeddah, Saudi Arabia, and their risk for atherosclerotic cardiovascular disease (ASCVD). Materials and Methods This cross-sectional study was based on data from volunteers participating in the “My Heart, My Health” community campaign conducted in a large-scale commercial center in Jeddah, KSA. Participants 20 years of age and above answered a questionnaire containing several risk factors of ASCVD. Anthropometric measurements and blood samples were collected for lipid profile and hemoglobin A1c. Ten-year and lifelong ASCVD risk scores were calculated. Results Eight-hundred seven volunteers participated (390 men and 417 women). The most common risk factor for men was low-high-density lipoprotein cholesterol, which was more prevalent than in women (77.9 vs. 30.3%, p < 0.01). The most common risk factor for women was obesity that was more prevalent than for men (42.6 vs. 36.8%, p = 0.30). The mean ASCVD risk score in 10 years was 8.1% (standard deviation [SD]: 10.5), and the mean ASCVD risk factor optimization % was 2.0% (SD: 2.5). The mean lifelong risk score was 39.5% (SD: 13.9), and the mean ASCVD lifelong risk factor optimization was 6.6% (SD: 2.6). Conclusion This study identified a high prevalence of cardiometabolic risk factors in the Saudi general public visiting a large commercial center in Jeddah, Saudi Arabia. The leading cardiometabolic risk factor is dyslipidemia in men and obesity in women. The 10-year ASCVD risk factor score is modest.
{"title":"Prevalence of Cardiovascular Risk Factors and Associated Estimated Risk of Atherosclerotic Cardiovascular Disease in Adult Volunteers in Jeddah, Saudi Arabia","authors":"N. Ismaeil, Ammar G. Chaudhary, N. A. Mahdi, Adel M. Al-Hyari, N. Aljohani","doi":"10.1055/s-0043-1763272","DOIUrl":"https://doi.org/10.1055/s-0043-1763272","url":null,"abstract":"Abstract Background The prevalence of cardiovascular disease and its risk factors are rising globally, including in the Kingdom of Saudi Arabia (KSA). The majority of epidemiologic data, however, was obtained from primary care centers or tertiary hospitals, and disease epidemiology in the general population needs to be better defined. Objective: This study aims to determine the prevalence of cardiometabolic risk factors in a random sample of adult volunteers in Jeddah, Saudi Arabia, and their risk for atherosclerotic cardiovascular disease (ASCVD). Materials and Methods This cross-sectional study was based on data from volunteers participating in the “My Heart, My Health” community campaign conducted in a large-scale commercial center in Jeddah, KSA. Participants 20 years of age and above answered a questionnaire containing several risk factors of ASCVD. Anthropometric measurements and blood samples were collected for lipid profile and hemoglobin A1c. Ten-year and lifelong ASCVD risk scores were calculated. Results Eight-hundred seven volunteers participated (390 men and 417 women). The most common risk factor for men was low-high-density lipoprotein cholesterol, which was more prevalent than in women (77.9 vs. 30.3%, p < 0.01). The most common risk factor for women was obesity that was more prevalent than for men (42.6 vs. 36.8%, p = 0.30). The mean ASCVD risk score in 10 years was 8.1% (standard deviation [SD]: 10.5), and the mean ASCVD risk factor optimization % was 2.0% (SD: 2.5). The mean lifelong risk score was 39.5% (SD: 13.9), and the mean ASCVD lifelong risk factor optimization was 6.6% (SD: 2.6). Conclusion This study identified a high prevalence of cardiometabolic risk factors in the Saudi general public visiting a large commercial center in Jeddah, Saudi Arabia. The leading cardiometabolic risk factor is dyslipidemia in men and obesity in women. The 10-year ASCVD risk factor score is modest.","PeriodicalId":294186,"journal":{"name":"Journal of Diabetes and Endocrine Practice","volume":"319 5","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"113998782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
G. Hasan, Ammar Al Hakim, Mohammad Eldesoky, Iftikhar Suleman, A. Deeb
Abstract Congenital hyperinsulinism is a rare hereditary condition that is caused by various gene mutations related to the function of the pancreatic β-cells. It is characterized by dysregulation of insulin secretion leading to profound and recurrent hypoglycemia. Its clinical presentation, histology, response to treatment, and underlying genetic defects are variable making it a heterogeneous condition. Pancreatectomy is indicated in diazoxide un-responsive cases. However, surgical treatment is associated with the possibility of persistent hypoglycemia and iatrogenic diabetes. We report a 3 months old girl who presented with hyperinsulinemic hypoglycemia. She was born to consanguineous parents and had a history of four neonatal deaths in siblings. Whole exome sequencing detected a KCNJ11 variant c.350_352del p.(Phe117del) in a homozygous state. Pancreatic scan (positron emission tomography/computed tomography) showed a diffusely increased radioisotope uptake in the head and tail of the pancreas. She was resistant to diazoxide and nifedipine and was shifted to octreotide treatment through multiple daily subcutaneous injections initially. Treatment was changed to monthly depot injection of octreotide that resulted in euglycemia. She kept a normal rate of growth, insulin-like growth factor-1, and liver function. This case is an example of an alternative effective medical therapy that avoids major surgical intervention and prevents long-term complication of recurrent hypoglycemia and iatrogenic diabetes resulting after surgery.
{"title":"Successful Treatment of Congenital Hyperinsulinism Due to KJNJ11 Gene Mutation with Long-Acting Release Octreotide: A Case Report from the Arab Region","authors":"G. Hasan, Ammar Al Hakim, Mohammad Eldesoky, Iftikhar Suleman, A. Deeb","doi":"10.1055/s-0043-1764457","DOIUrl":"https://doi.org/10.1055/s-0043-1764457","url":null,"abstract":"Abstract Congenital hyperinsulinism is a rare hereditary condition that is caused by various gene mutations related to the function of the pancreatic β-cells. It is characterized by dysregulation of insulin secretion leading to profound and recurrent hypoglycemia. Its clinical presentation, histology, response to treatment, and underlying genetic defects are variable making it a heterogeneous condition. Pancreatectomy is indicated in diazoxide un-responsive cases. However, surgical treatment is associated with the possibility of persistent hypoglycemia and iatrogenic diabetes. We report a 3 months old girl who presented with hyperinsulinemic hypoglycemia. She was born to consanguineous parents and had a history of four neonatal deaths in siblings. Whole exome sequencing detected a KCNJ11 variant c.350_352del p.(Phe117del) in a homozygous state. Pancreatic scan (positron emission tomography/computed tomography) showed a diffusely increased radioisotope uptake in the head and tail of the pancreas. She was resistant to diazoxide and nifedipine and was shifted to octreotide treatment through multiple daily subcutaneous injections initially. Treatment was changed to monthly depot injection of octreotide that resulted in euglycemia. She kept a normal rate of growth, insulin-like growth factor-1, and liver function. This case is an example of an alternative effective medical therapy that avoids major surgical intervention and prevents long-term complication of recurrent hypoglycemia and iatrogenic diabetes resulting after surgery.","PeriodicalId":294186,"journal":{"name":"Journal of Diabetes and Endocrine Practice","volume":"21 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114853133","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Journal of Diabetes and Endocrine Practice (2023): Stepping into the Sixth Year of Age","authors":"S. Beshyah","doi":"10.1055/s-0043-1763278","DOIUrl":"https://doi.org/10.1055/s-0043-1763278","url":null,"abstract":"","PeriodicalId":294186,"journal":{"name":"Journal of Diabetes and Endocrine Practice","volume":"4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121768595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Dogma, according to the Britannica Dictionary, is ”a belief or set of beliefs that is accepted by the members of a group without being questioned or doubted.” Thus, in 2001, the heretical idea that corneal confocal microscopy (CCM)—an ophthalmic instrument—could be used to assess neurological disease truly challenged the dogma. The repurposing of CCM to study diabetic neuropathy and other neurodegenerative diseases is a wonderful illustration of being in the right time and place and having honest and open conversations between very different medical disciplines to 'challenge the dogma.' The Gulf Association of Diabetes and Endocrinology (GAED) Medal Lecture in 2022 and the European Association for the Study of Diabetes (EASD) Camillo Golgi Prize in 2019 have enabled me to tell my personal story in relation to the past, present, and future of CCM as a clinical tool to diagnose and predict neurodegeneration and identify nerve regeneration in clinical trials of new therapies for peripheral and central neurodegenerative diseases.
{"title":"GAED Medal Lecture 2022: Challenging the Dogma in Diabetic Neuropathy and Beyond","authors":"R. Malik","doi":"10.1055/s-0043-1763276","DOIUrl":"https://doi.org/10.1055/s-0043-1763276","url":null,"abstract":"Abstract Dogma, according to the Britannica Dictionary, is ”a belief or set of beliefs that is accepted by the members of a group without being questioned or doubted.” Thus, in 2001, the heretical idea that corneal confocal microscopy (CCM)—an ophthalmic instrument—could be used to assess neurological disease truly challenged the dogma. The repurposing of CCM to study diabetic neuropathy and other neurodegenerative diseases is a wonderful illustration of being in the right time and place and having honest and open conversations between very different medical disciplines to 'challenge the dogma.' The Gulf Association of Diabetes and Endocrinology (GAED) Medal Lecture in 2022 and the European Association for the Study of Diabetes (EASD) Camillo Golgi Prize in 2019 have enabled me to tell my personal story in relation to the past, present, and future of CCM as a clinical tool to diagnose and predict neurodegeneration and identify nerve regeneration in clinical trials of new therapies for peripheral and central neurodegenerative diseases.","PeriodicalId":294186,"journal":{"name":"Journal of Diabetes and Endocrine Practice","volume":"6 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114275315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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