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Marked reduction in paralytic attacks in a patient with Andersen-Tawil syndrome switched from acetazolamide to dichlorphenamide.
Gupta, A, Iyadurai, S, Roggenbuck, J, LoRusso, S
Neuromuscular disorders : NMD. 2021;(7):656-659
Abstract
Andersen-Tawil syndrome is a rare, autosomal dominant, multisystem disorder for which the majority of cases are caused by pathogenic variants in the KCNJ2 gene. The syndrome is characterized by the clinical triad of episodic paralysis, cardiac conduction abnormalities, and dysmorphic facial and skeletal features. Treatment of Andersen-Tawil syndrome is primarily focused on management of cardiac arrhythmias and preventive management of paralytic attacks. Dichlorphenamide is approved by the US Food and Drug Administration for use in primary periodic paralysis based on several randomized, controlled trials but has not been studied in patients with Andersen-Tawil syndrome. Here, we report a case of the syndrome caused by a de novo pathogenic variant in the KCNJ2 gene (c.95_98del). The paralytic attack rate for this patient was better controlled with dichlorphenamide compared with acetazolamide, further supporting the use of dichlorphenamide in patients with Andersen-Tawil syndrome.
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Metabolic Alkalosis in the Pediatric Patient: Treatment Options in the Pediatric ICU or Pediatric Cardiothoracic ICU Setting.
Tobias, JD
World journal for pediatric & congenital heart surgery. 2020;(6):776-782
Abstract
Metabolic alkalosis is characterized by the primary elevation of the serum bicarbonate concentration with a normal or elevated partial pressure of carbon dioxide. Although there may be several potential etiologies in the critically ill patient in the pediatric or cardiothoracic intensive care unit, metabolic alkalosis most commonly results from diuretic therapy with chloride loss. In most cases, the etiology can be determined by a review of the patient's history and medication record. Although generally innocuous with limited impact on physiologic function, metabolic alkalosis may impair central control of ventilation, especially when weaning from mechanical ventilation. The following manuscript presents the normal homeostatic mechanisms that control pH, reviews the etiology of metabolic alkalosis, and outlines the differential diagnosis. Options and alternatives for treatment including pharmacologic interventions are presented with a focus on these conditions as they pertain to the patient in the pediatric or cardiac intensive care unit.
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Intracranial hypertension: a current review.
Jordan, CO, Aylward, SC
Current opinion in pediatrics. 2018;(6):764-774
Abstract
PURPOSE OF REVIEW To provide a current review of recent publications with regards to intracranial hypertension. RECENT FINDINGS Attempts were made to provide pediatric data; however, the recent completion of the Idiopathic Intracranial Hypertension Treatment Trial (IIHTT) has provided a wealth of data with regards to adult intracranial hypertension.The pediatric incidence of intracranial hypertension ranges between 0.63 and 0.71 per 100 000 children. A majority of pediatric cases responded to acetazolamide, with resolution of headache averaging 3.8 weeks. Most patients require less than 1 year of treatment with male sex, older age at diagnosis, primary intracranial hypertension, and lack of headache being predictors of good response. Fluorescein angiography has the highest accuracy in distinguishing true papilledema from pseudopapilledema. The IIHTT found Frisen grade of papilledema was within 1 grade in 92.8% of patients. Monitoring of potassium levels is not required and aplastic anemia was not seen in patients taking acetazolamide. SUMMARY Although the newer pediatric studies report incidence rates in pediatric intracranial hypertension are lower than seen in adults, intracranial hypertension is still a concern in pediatrics. There has been a wealth of information with regards to symptomatology, treatment, and outcomes from the IIHTT that will hopefully assist with management in the pediatric population.
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Interventions for preventing high altitude illness: Part 2. Less commonly-used drugs.
Gonzalez Garay, A, Molano Franco, D, Nieto Estrada, VH, Martí-Carvajal, AJ, Arevalo-Rodriguez, I
The Cochrane database of systematic reviews. 2018;(3):CD012983
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Abstract
BACKGROUND High altitude illness (HAI) is a term used to describe a group of mainly cerebral and pulmonary syndromes that can occur during travel to elevations above 2500 metres (˜ 8200 feet). Acute mountain sickness (AMS), high altitude cerebral oedema (HACE) and high altitude pulmonary oedema (HAPE) are reported as potential medical problems associated with high altitude ascent. In this second review, in a series of three about preventive strategies for HAI, we assessed the effectiveness of five of the less commonly used classes of pharmacological interventions. OBJECTIVES To assess the clinical effectiveness and adverse events of five of the less commonly used pharmacological interventions for preventing acute HAI in participants who are at risk of developing high altitude illness in any setting. SEARCH METHODS We searched the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, Embase, LILACS and the World Health Organization International Clinical Trials Registry Platform (WHO ICTRP) in May 2017. We adapted the MEDLINE strategy for searching the other databases. We used a combination of thesaurus-based and free-text search terms. We scanned the reference lists and citations of included trials and any relevant systematic reviews that we identified for further references to additional trials. SELECTION CRITERIA We included randomized controlled trials conducted in any setting where one of five classes of drugs was employed to prevent acute HAI: selective 5-hydroxytryptamine(1) receptor agonists; N-methyl-D-aspartate (NMDA) antagonist; endothelin-1 antagonist; anticonvulsant drugs; and spironolactone. We included trials involving participants who are at risk of developing high altitude illness (AMS or HACE, or HAPE, or both). We included participants with and without a history of high altitude illness. We applied no age or gender restrictions. We included trials where the relevant medication was administered before the beginning of ascent. We excluded trials using these drugs during ascent or after ascent. DATA COLLECTION AND ANALYSIS We used the standard methodological procedures employed by Cochrane. MAIN RESULTS We included eight studies (334 participants, 9 references) in this review. Twelve studies are ongoing and will be considered in future versions of this review as appropriate. We have been unable to obtain full-text versions of a further 12 studies and have designated them as 'awaiting classification'. Four studies were at a low risk of bias for randomization; two at a low risk of bias for allocation concealment. Four studies were at a low risk of bias for blinding of participants and personnel. We considered three studies at a low risk of bias for blinding of outcome assessors. We considered most studies at a high risk of selective reporting bias.We report results for the following four main comparisons.Sumatriptan versus placebo (1 parallel study; 102 participants)Data on sumatriptan showed a reduction of the risk of AMS when compared with a placebo (risk ratio (RR) = 0.43, CI 95% 0.21 to 0.84; 1 study, 102 participants; low quality of evidence). The one included study did not report events of HAPE, HACE or adverse events related to administrations of sumatriptan.Magnesium citrate versus placebo (1 parallel study; 70 participants)The estimated RR for AMS, comparing magnesium citrate tablets versus placebo, was 1.09 (95% CI 0.55 to 2.13; 1 study; 70 participants; low quality of evidence). In addition, the estimated RR for loose stools was 3.25 (95% CI 1.17 to 8.99; 1 study; 70 participants; low quality of evidence). The one included study did not report events of HAPE or HACE.Spironolactone versus placebo (2 parallel studies; 205 participants)Pooled estimation of RR for AMS was not performed due to considerable heterogeneity between the included studies (I² = 72%). RR from individual studies was 0.40 (95% CI 0.12 to 1.31) and 1.44 (95% CI 0.79 to 2.01; very low quality of evidence). No events of HAPE or HACE were reported. Adverse events were not evaluated.Acetazolamide versus spironolactone (1 parallel study; 232 participants)Data on acetazolamide compared with spironolactone showed a reduction of the risk of AMS with the administration of acetazolamide (RR = 0.36, 95% CI 0.18 to 0.70; 232 participants; low quality of evidence). No events of HAPE or HACE were reported. Adverse events were not evaluated. AUTHORS' CONCLUSIONS This Cochrane Review is the second in a series of three providing relevant information to clinicians and other interested parties on how to prevent high altitude illness. The assessment of five of the less commonly used classes of drugs suggests that there is a scarcity of evidence related to these interventions. Clinical benefits and harms related to potential interventions such as sumatriptan are still unclear. Overall, the evidence is limited due to the low number of studies identified (for most of the comparison only one study was identified); limitations in the quality of the evidence (moderate to low); and the number of studies pending classification (24 studies awaiting classification or ongoing). We lack the large and methodologically sound studies required to establish or refute the efficacy and safety of most of the pharmacological agents evaluated in this review.
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Acetazolamide-responsive Episodic Ataxia Without Baseline Deficits or Seizures Secondary to GLUT1 Deficiency: A Case Report and Review of the Literature.
Tchapyjnikov, D, Mikati, MA
The neurologist. 2018;(1):17-18
Abstract
INTRODUCTION Glucose transporter type 1 deficiency syndrome (GLUT1 DS) is caused by impaired glucose transport across the blood-brain barrier and commonly presents as severe early onset epilepsy, developmental delay, and movement abnormalities. In rare instances, GLUT1 DS can present as a paroxysmal movement disorder without the other classic symptoms. Episodic ataxia (EA) secondary to GLUT1 DS has been previously reported, but all previous patients had seizures and/or baseline abnormalities on neurological examination. Isolated acetazolamide-responsive EA secondary to GLUT1 DS without deficits on neurological examination and without seizures has not been described. CASE REPORT A 4-year-old boy presented with EA, no baseline neurological abnormalities, and no history of seizures. He was initiated on acetazolamide with a ≥75% improvement in frequency and severity of episodes. A genetic testing panel for EAs subsequently returned positive for a mutation in the SLC2A1 gene and cerebrospinal fluid analysis showed hypoglycorrhachia in the setting of normal blood glucose, which confirmed the diagnosis of GLUT1 DS. His symptoms resolved completely with ketogenic diet initiation even with discontinuation of acetazolamide. CONCLUSIONS To our knowledge, this represents one of the mildest described presentations of nonepileptic GLUT1 DS consisting of acetazolamide-responsive EA without seizures or baseline neurological examination abnormalities. Our experience supports increased vigilance for this treatable cause of EA.
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Pharmacologic prophylaxis for acute mountain sickness: a systematic shortcut review.
Seupaul, RA, Welch, JL, Malka, ST, Emmett, TW
Annals of emergency medicine. 2012;(4):307-317.e1
Abstract
STUDY OBJECTIVE Multiple studies have explored pharmacologic interventions to prevent acute mountain sickness. A systematic review of this subject published in 2000 found that both acetazolamide and dexamethasone were effective. Since 2000, a number of other agents have been reported to be beneficial. This EBEM review evaluates the most current evidence on this topic. METHODS We searched MEDLINE, EMBASE, the Cochrane Central Register of Controlled Trials, SPORTDiscus, Emergency Medical Abstracts, and ClinicalTrials.gov from 2000 to July 2011. Only randomized placebo-controlled trials with an N greater than or equal to 50 and systematic reviews were reviewed. Standard criteria for assessing trial quality were independently assessed by 2 authors. RESULTS Seven hundred eighty-six citations were retrieved, of which 105 were reviewed in their entirety. Eleven randomized controlled trials and 1 systematic review appeared to meet inclusion criteria; however, 4 randomized controlled trials were excluded for high risk of bias. The remaining 7 randomized controlled trials investigated antioxidants, magnesium, sumatriptan, gabapentin, acetazolamide, and Ginkgo biloba. No trials studying dexamethasone met our criteria. Acetazolamide was associated with a reduction in acute mountain sickness symptoms, with a number needed to treat ranging from 8 to 3 among 3 trials and at doses ranging from 250 to 750 mg daily. Sumatriptan showed benefit in 1 trial (number needed to treat=4), as did gabapentin (number needed to treat=6). Antioxidants, magnesium, and G biloba were not efficacious. Reported adverse events included somnolence with gabapentin and paresthesias with acetazolamide. The systematic review affirmed our results but did not capture trials studying antioxidants, magnesium, sumatriptan, or gabapentin. CONCLUSION Acetazolamide is effective for the prevention of acute mountain sickness but may be associated with paresthesias. Sumatriptan and gabapentin are beneficial but require further study.
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Acetazolamide-responsive ataxia.
Kotagal, V
Seminars in neurology. 2012;(5):533-7
Abstract
Acetazolamide-responsive ataxia represents a unique collection of genetically distinct episodic ataxia (EA) disorders associated with paroxysmal cerebellar symptoms many of which are responsive to medical treatment with acetazolamide, a carbonic anhydrase inhibitor. Among all of the subtypes of episodic ataxia, types 2 (EA2), 3 (EA3), and 5 (EA5) are thought be the most medication responsive. Some patients with episodic ataxia type 1 (EA1) will also describe improvement with acetazolamide. Each of these individual genetic syndromes is characterized by its own unique mechanism and clinical presentation. In this review, the author provides an overview of the pathophysiology of acetazolamide-responsive ataxia, its natural history, and its clinical management.
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Retinitis pigmentosa and other dystrophies.
Sahel, J, Bonnel, S, Mrejen, S, Paques, M
Developments in ophthalmology. 2010;:160-167
Abstract
Retinitis pigmentosa (RP) is an inherited retinal degeneration that affects predominantly peripheral visual fields. Macular edema may cause additional central visual acuity decrease. Fluorescein angiography and/or optical coherence tomography detect the presence of macular edema in 10-20% of RP patients. Macular edema can manifest at any stage of the disease and may be unilateral or bilateral. In X-linked forms, macular edema is very rare. The origin of macular edema in RP patients still remains poorly understood. The possible pathophysiological role of autoantibodies has been suggested (retinal, carbonic anhydrase, and enolase antibodies). Drug therapy is the primary treatment for macular edema in patients with R P. Systemic carbonic anhydrase inhibitors, such as oral acetazolamide or topical dorzolamide, still are the mainstay of initial therapy. If cystoid macular edema is refractory to acetazolamide, intravitreal corticosteroid injections could be administered. Intravitreal anti-vascular endothelial growth factor therapy has also been used in cases of macular edema persistence after oral acetazolamide therapy, though with uncertain results. Vitrectomy can also be proposed, but its role is not clear yet. Autoimmune retinopathies (AIRs) are a group of rare diseases characterized by acute or subacute progressive vision loss and are thought to be mediated by autoantibodies specific to retinal antigens. The AIRs encompass paraneoplastic syndromes, such as cancer-associated retinopathy and melanoma-associated retinopathy, and a larger group of AIRs that have similar clinical and immunological findings but without underlying malignancy. These diseases may also be complicated by macular edema.
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[Medications for diabetic macular edema].
Kitano, S
Nihon rinsho. Japanese journal of clinical medicine. 2005;:275-9
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SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.
Venance, SL, Jurkat-Rott, K, Lehmann-Horn, F, Tawil, R
Neurology. 2004;(10):1977