Multiple electrolyte disturbances as the presenting feature of MEN-1

AbstractThe AVA program combines a thirty-year history with an approach that remains innovative; namely: multivariate statistical analysis on orthogonal ECG leads. Its diagnostic reference base includes only diagnoses independently verified by non-ECG criteria. The diagnostic module assesses probabilities of nine alternative disease categories, based on QRS-T parameters; or four other categories in case of conduction defects. Probabilities of left or right atrial overload are also computed. The program also recognizes wall injury, T-wave abnormalities, electrolyte disturbances, myocardial ischemia, and makes differential diagnoses between strain and digitalis effects. An arrhythmia classification module can generate any of 40 rhythm statements. Signal recognition is based on the spatial velocity function. The program has been translated to a microcomputer version.

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Challenges in the differential diagnosis of multiple endocrine neoplasia syndrome type 1 with isolated family hyperparathyroidism

Clinical Medicine (Russian Journal) ◽

10.30629/0023-2149-2020-98-3-218-225 ◽

2020 ◽

Vol 98 (3) ◽

pp. 218-225

Author(s):

J. A. Krupinova ◽

N. G. Mokrysheva ◽

N. Y. Kalinchenko ◽

A. K. Eremkina ◽

A. N. Polyakov ◽

...

Keyword(s):

Multiple Endocrine Neoplasia ◽

Molecular Genetic ◽

Pancreatic Neuroendocrine Tumor ◽

Family Type ◽

Dynamic Monitoring ◽

Heterozygous Mutation ◽

Molecular Genetic Study ◽

Men 1 ◽

Endocrine Neoplasia

Multiple endocrine neoplasia type 1 (MEN-1) is the most common cause of the hereditary type of primary hyperparathyroidism (PHPT). If a family type of PHPT is suspected, a dynamic monitoring of patients and their close relatives should be carried out throughout their lives. We present a clinical case of a family in which four members of a pedigree were diagnosed with familial isolated hyperparathyroidism (FIHP). The diagnosis was changed to MEN-1, because it appeared that one of the patients had pancreatic neuroendocrine tumor. Molecular genetic study of MEN1 by direct by means of Sanger sequencing revealed that six family members had a new heterozygous mutation in exon 9: s. 1252 G> T p. D418Y.

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Efficacy of decitabine in malignant meningioma cells: relation to promoter demethylation of distinct tumor suppressor and oncogenes and independence from TERT

Journal of Neurosurgery ◽

10.3171/2020.7.jns193097 ◽

2020 ◽

pp. 1-10

Author(s):

Louise Stögbauer ◽

Christian Thomas ◽

Andrea Wagner ◽

Nils Warneke ◽

Eva Christine Bunk ◽

...

Keyword(s):

Dna Methylation ◽

Tumor Suppressor ◽

Promoter Methylation ◽

Tumor Suppressor Genes ◽

Telomerase Activity ◽

High Grade ◽

Htert Promoter ◽

Men 1 ◽

Meningioma Cell ◽

Tert Expression

OBJECTIVEChemotherapeutic options for meningiomas refractory to surgery or irradiation are largely unknown. Human telomerase reverse transcriptase (hTERT) promoter methylation with subsequent TERT expression and telomerase activity, key features in oncogenesis, are found in most high-grade meningiomas. Therefore, the authors investigated the impact of the demethylating agent decitabine (5-aza-2ʹ-deoxycytidine) on survival and DNA methylation in meningioma cells.METHODShTERT promoter methylation, telomerase activity, TERT expression, and cell viability and proliferation were investigated prior to and after incubation with decitabine in two benign (HBL-52 and Ben-Men 1) and one malignant (IOMM-Lee) meningioma cell line. The global effects of decitabine on DNA methylation were additionally explored with DNA methylation profiling.RESULTSHigh levels of TERT expression, telomerase activity, and hTERT promoter methylation were found in IOMM-Lee and Ben-Men 1 but not in HBL-52 cells. Decitabine induced a dose-dependent significant decrease of proliferation and viability after incubation with doses from 1 to 10 μM in IOMM-Lee but not in HBL-52 or Ben-Men 1 cells. However, effects in IOMM-Lee cells were not related to TERT expression, telomerase activity, or hTERT promoter methylation. Genome-wide methylation analyses revealed distinct demethylation of 14 DNA regions after drug administration in the decitabine-sensitive IOMM-Lee but not in the decitabine-resistant HBL-52 cells. Differentially methylated regions covered promoter regions of 11 genes, including several oncogenes and tumor suppressor genes that to the authors’ knowledge have not yet been described in meningiomas.CONCLUSIONSDecitabine decreases proliferation and viability in high-grade but not in benign meningioma cell lines. The effects of decitabine are TERT independent but related to DNA methylation changes of promoters of distinct tumor suppressor genes and oncogenes.

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Critical care management of hydrofluoric acid burns with a negative outcome

BMJ Case Reports ◽

10.1136/bcr-2021-242187 ◽

2021 ◽

Vol 14 (6) ◽

pp. e242187

Author(s):

Aalekh Prasad ◽

Heba Ibrahim ◽

Katherine Mortimore ◽

Rohan Vandabona

Keyword(s):

Hydrofluoric Acid ◽

Care Management ◽

Vital Role ◽

Severe Metabolic Acidosis ◽

Fluoride Ions ◽

Subcutaneous Injections ◽

Electrolyte Disturbances ◽

Severe Burns ◽

Systemic Reactions ◽

Critical Care Management

Hydrofluoric acid is a highly corrosive acid widely used in various industries. When in contact with skin it causes local and systemic reactions due to the generation of fluoride ions. Severe burns are associated with high mortality rates, approaching 100%. We present a 21-year-old man with 15% full thickness burns, severe metabolic acidosis, hypoxia and electrolyte disturbances. The burns were treated with topical and subcutaneous injections of calcium gluconate, and the patient was given intravenous fluid, calcium chloride, magnesium and insulin-glucose infusions. Continuous renal replacement therapy was initiated due to the severity of the systemic toxicity. Extracorporeal membrane oxygenation was considered as it plays a vital role when conventional therapies fail. Our patient suffered multiple cardiac arrests and cardiopulmonary resuscitation was conducted several times but despite extensive efforts, he did not survive.

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Effect of applying nurses driven electrolyte repletion protocol on electrolyte disturbances control among critically ill patients

Journal of Nursing Education and Practice ◽

10.5430/jnep.v10n4p72 ◽

2020 ◽

Vol 10 (4) ◽

pp. 72

Author(s):

Mohamed E. Abdelgawad ◽

Nadia T. Ahmed ◽

Ahmed M. Elmenshawy

Keyword(s):

Intensive Care ◽

Intensive Care Units ◽

Critically Ill ◽

Critically Ill Patients ◽

Improve Patient Care ◽

University Hospital ◽

Treatment Modalities ◽

Control Group ◽

Electrolyte Disturbances ◽

Electrolyte Loss

Background and objective: Electrolyte disturbances remain a common lifesaving issue in the intensive care units. They are associated with increased morbidity and mortality. They are mostly resulted secondary to critical illness itself or associated treatment modalities. Therefore, electrolytes repletion should be done effectively and timely. This could be ensured using nurse driven protocols rather than traditional methods of repletion. These protocols are nurse initiated and collaboratively developed. They have been shown to improve patient care outcomes through the provision of high quality care. They are increasingly being used in the critical care setting. Objective: Determine the effect of applying nurses driven electrolytes repletion protocol on electrolytes disturbance control among critically ill patients.Methods: Quasi experimental research design was used. Sixty two critically ill patients with electrolytes loss were enrolled in the study at Alexandria Main University Hospital intensive care units, Egypt. All episodes of electrolyte loss were evaluated. Repletion of electrolyte loss was done according to unit routine for the control group and nurses driven electrolytes repletion protocol for the study group. Episodes of electrolyte disturbances, adverse events and timing of repletion were evaluated.Results: Neurological disorders represent the most encountered diagnosis. The most common cause of electrolyte loss in was the use of diuretics. Furthermore, there was a highly statistical difference between the two groups as regard electrolytes levels, effectiveness and timing of replacement.Conclusions: Application of nurses driven electrolyte repletion protocol resulted in improvements in the effectiveness and timeliness of electrolyte replacement.

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