Outcome of Nonketotic Hyperglycinemia in Lebanon: 14-Year Retrospective Review

2019 ◽  
Vol 50 (04) ◽  
pp. 235-243
Author(s):  
Rolla M. Shbarou ◽  
Rose Mary Boustany ◽  
Rose T. Daher ◽  
Parisa Pakdel ◽  
Abir Noureddine ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
North Africa ◽  
Incomplete Data ◽  
Tertiary Care ◽  
Multicenter Studies ◽  
Metabolic Encephalopathy ◽  
Glycine Metabolism ◽  
Nonketotic Hyperglycinemia ◽  
Rare Inborn Error

Nonketotic hyperglycinemia is a rare inborn error of glycine metabolism characterized by a severe metabolic encephalopathy with drug-resistant seizures. Here, we report the outcome of nonketotic hyperglycinemia in a cohort of patients diagnosed and followed-up at a tertiary care reference center in Lebanon, between 2000 and 2014.Eight out of 12 patients with nonketotic hyperglycinemia were retrospectively reviewed. The remainders were excluded for incomplete data. The majority of cases presented with seizures and hypsarrhythmia or burst suppression patterns. Half of the patients died. Survival varied between 7 days and 18 years. Seizures remained unresponsive with poor outcome, despite standard supportive care and antiepileptic therapy; however, two patients were responsive to ketogenic diet and one of them became seizure-free.Scarce data on the outcome of nonketotic hyperglycinemia patients from the Middle East and North Africa region are available. The ketogenic diet, in combination with standard therapies, appears to be effective in controlling the seizures in this devastating disorder. Larger multicenter studies are still needed to establish the role of the ketogenic diet in nonketotic hyperglycinemia.

Neonatal Nonketotic Hyperglycinemia: A Case Study and Review of Management for the Advanced Practice Nurse

2013 ◽  
Vol 32 (2) ◽  
pp. 95-103 ◽  
Author(s):  
Joanna L. Mulligan
Keyword(s):  
Autosomal Recessive ◽  
Practice Nurse ◽  
Advanced Practice ◽  
Advanced Practice Nurse ◽  
Neurologic Impairment ◽  
Intractable Seizures ◽  
Glycine Metabolism ◽  
Nonketotic Hyperglycinemia

Nonketotic hyperglycinemia (NKH) is an autosomal recessive inborn error of glycine metabolism. In this article, I will present the case of baby girl S. who presented to the emergency room on Day 4 of life with severe lethargy, seizures, and respiratory depression requiring mechanical ventilation. A diagnosis of NKH was made secondary to elevated plasma and cerebrospinal fluid glycine concentrations. I will review the pathophysiology of NKH, methods of diagnosis, and the differential diagnosis. There are a variety of different pharmacologic and alternative therapies for NKH. Despite these treatments, the prognosis for infants with NKH is poor, with severe neurologic impairment, intractable seizures, and death common before 5 years of age. I will address the role of the advanced practice nurse in caring for an infant with NKH including clinical, educational, and research implications.

TO DETERMINE THE ROLE OF CA125 IN THE DIAGNOSIS OF ACUTE APPENDICITIS

2020 ◽  
Vol 4 (7) ◽  
Author(s):  
Vinod Kumar ◽  
Bhupen Songra ◽  
Richa Jain ◽  
Deeksha Mehta
Keyword(s):  
Acute Appendicitis ◽  
Clinical Diagnosis ◽  
Tertiary Care Hospital ◽  
Tertiary Care ◽  
Ca 125 ◽  
Care Hospital ◽  
Serum Samples ◽  
Roc Curve Analysis ◽  
Surgery Department

Background: the present study was under taken to determine the role of CA-125 in the diagnosis of acute appendicitis (AA), to prevent its complications and also in preventing negative appendicectomies in tertiary care hospital. Methods: The study was conducted at a tertiary care and research center between 01/03/2018 to 30/06/2019. Patients admitted to the surgery department with diagnosis of AA were considered for the study. After informed consent, a, standardized history was obtained as a case Performa. Serum samples from all the cases with clinical diagnosis of AA were obtained and stored. Only the cases with histopathologically approved AA were included in the study. Cases operated for clinical diagnosis of AA, but not histopathologically proven AA was not included in the study. CA125 levels in cases with definitive diagnosis of AA were measured. Results: In present study, ROC curve analysis revealed the sensitivity of 87.27 % and specificity of 90.91 % when the CA 125 cut-off value of > 16.8 was taken to diagnose acute appendicitis. AUC was 0.911 with a standard error of 0.0292. Conclusion: In this study we have observed that CA125 showed a positive correlation with acute appendicitis, that was statistically not significant (P>0.05). We didn’t evaluate the correlation with the disease severity. We consider that CA125 can be used as a marker in acute appendicitis cases although further research is still needed. Keywords: CA125, Acute Appendicitis, Surgery.

The role of the clinical pharmacist in guiding adjuvant hormonal therapy in patients with breast cancer

2021 ◽  
pp. 107815522110293
Author(s):  
Amanda V Pirolli ◽  
Tatiana Brusamarello ◽  
Stella S Everton ◽  
Vânia M S Andrzejevski
Keyword(s):  
Breast Cancer ◽  
Hormone Therapy ◽  
Hormonal Therapy ◽  
Clinical Pharmacist ◽  
Tertiary Care ◽  
Structured Interview ◽  
Care Hospital ◽  
Adjuvant Hormonal Therapy ◽  
Breast Cancers

Breast cancer is the most prevalent type of cancer among women, affecting about 2.1 million worldwide and is responsible for the highest number of cancer-related deaths among women. Approximately 80% of breast cancers express on the surface of hormone receptor cells, such as progesterone and estrogen. In these cases, Adjuvant Hormonal Therapy (AHT) is indicated for a period of five to ten years and consists of taking a daily oral pill. The two most used drugs in AHT are tamoxifen and Aromatase Inhibitors. One of the issues most faced by individuals who are subjected to long periods of treatment is the lack of medication adherence and, consequently, therapeutic inefficiency. It is believed that the monitoring by the pharmacist can contribute to the reduction of errors inherent to the medication, making the treatment more effective and improving the patient's quality of life. The present study aimed to know the perception of patients who live with breast cancer and who do AHT in relation to the educational performance of the clinical pharmacist. This is a qualitative, descriptive and exploratory study, carried out from March to October 2020, with 15 women undergoing treatment at the oncology unit of a tertiary-care hospital in south of Brazil. The data were obtained through a semi-structured interview using an instrument composed of two parts, one referring to the characterization of the participants and the other with the guiding question of the research: "How do you perceive the role of the pharmacist in relation to the guidelines for the use of adjuvant hormonal therapy?". The method of theoretical saturation was used to perform the sample closure and the thematic analysis was used to analyze the data. The participants were between 32 and 74 years old, seven were on tamoxifen therapy and eight on anastrozole, ten were on the first year of treatment, two on the second and three on the third year. The themes that emerged were: pharmacist-patient interaction as a safety factor in hormone therapy; role of the pharmacist in the development of strategies for self-management of the patients during hormone therapy; and, challenges for the pharmacist in relation to hormone therapy through continued guidance. It was evident that the pharmacist's educational action encouraged the participants to carry out the treatment in a more confident and assertive manner according to their particularities and beliefs.

Possible Role of High-Dose Barbiturates and Early Administration of Parenteral Ketogenic Diet for Reducing Development of Chronic Epilepsy in Febrile Infection-Related Epilepsy Syndrome: A Case Report

2020 ◽  
Author(s):  
Shimpei Baba ◽  
Tohru Okanishi ◽  
Koichi Ohsugi ◽  
Rika Suzumura ◽  
Keiko Niimi ◽  
...  
Keyword(s):  
Continuous Infusion ◽  
Ketogenic Diet ◽  
Epilepsy Syndrome ◽  
High Dose ◽  
Early Administration ◽  
Chronic Epilepsy ◽  
Time Period ◽  
Irreversible Brain Damage ◽  
Electroencephalogram Eeg

AbstractWe describe the efficacy of high-dose barbiturates and early administration of a parenteral ketogenic diet (KD) as initial treatments for acute status epilepticus (SE) in an 8-year-old girl with febrile infection-related epilepsy syndrome (FIRES). The patient was admitted to our hospital with refractory focal SE. Abundant epileptic discharges over the left frontal region were observed on electroencephalogram (EEG). Treatment with continuous infusion of thiamylal for 4 hours, increased incrementally to 40 mg/kg/h, successfully ended the clinical SE, and induced a burst-suppression coma. The infusion rate was then gradually decreased to 4 mg/kg/h over the next 12 hours. Parenteral KD was administered from days 6 to 21 of illness. Continuous infusion of thiamylal was switched to midazolam on day 10 without causing seizures or EEG exacerbations. The patient has remained seizure free in the 15 months since hospital discharge. The effectiveness of KD for the treatment of FIRES has attracted attention amongst clinicians, but KD treatment may need to last for 2 to 4 days before it can stop SE, a time period that could cause irreversible brain damage. Considering the severity of SE in our patient and the dose of barbiturates needed to treat it, we consider this case to have had a good clinical outcome. The results suggest that rapid termination of seizure using high-dose barbiturates in conjunction with early administration of parenteral KD could reduce the development of chronic epilepsy in patients with FIRES.

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