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2.
BMJ Case Rep ; 14(2)2021 Feb 04.
Artigo em Inglês | MEDLINE | ID: mdl-33541940

RESUMO

A 25-year-old man presented with decreased vision in both eyes, approximately 4 years following bilateral bright ocular cosmetic iris implantation. On examination, he was found to have bilateral elevated intraocular pressures, anterior chamber cells and flare, chronic peripheral anterior synechiae and significantly reduced endothelial cell counts. Ultrasound biomicroscopy demonstrated compression of the peripheral iris, resulting in synechial angle closure in both eyes. Surgical removal of the implants was performed without additional complication. On removal, bilateral iris atrophy was evident with non-reacting pupils and permanent mydriasis. Optical coherence tomography angiography showed a reduction in iris vasculature density that is more pronounced in the area of the iris atrophic defects. This case suggests that cosmetic iris implants may compress iris vasculature, resulting in decreased iris perfusion resulting in atrophic mydriasis and iris defects. This is a potential novel mechanism for complications in eyes with cosmetic iris implants.


Assuntos
Pressão Intraocular , Doenças da Íris/complicações , Iris/cirurgia , Midríase/diagnóstico , Próteses e Implantes/efeitos adversos , Acetaminofen/uso terapêutico , Acetazolamida/uso terapêutico , Administração Intravenosa , Adulto , Analgésicos não Entorpecentes/uso terapêutico , Inibidores da Anidrase Carbônica/uso terapêutico , Humanos , Latanoprosta/uso terapêutico , Masculino , Soluções Oftálmicas/uso terapêutico , Tomografia de Coerência Óptica
3.
BMJ Case Rep ; 14(2)2021 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-33526531

RESUMO

This report describes two patients with acute-onset ptosis, oculomotor dysfunction, ataxia and drowsiness, referable to the midbrain tegmentum. Both patients had previously suffered severe closed head injuries requiring craniotomy for cerebral decompression. Serial brain scans in both cases revealed a newly developing cleft in the midbrain, with features suggestive of abnormal cerebrospinal fluid (CSF) flow across the aqueduct. A trial of acetazolamide was initiated to reduce CSF production, followed by a third ventriculostomy for CSF diversion in one patient, which resulted in arrested disease progression and partial recovery. There are only two previous reports in the literature of midbrain clefts that developed as remote sequelae of head trauma. We postulate that altered CSF flow dynamics in the aqueduct, possibly related to changes in brain compliance, may be contributory. Early recognition and treatment may prevent irreversible structural injury and possible death.


Assuntos
Encefalopatias/diagnóstico por imagem , Lesões Encefálicas Difusas/diagnóstico por imagem , Aqueduto do Mesencéfalo/diagnóstico por imagem , Craniectomia Descompressiva , Traumatismos Cranianos Fechados/cirurgia , Mesencéfalo/diagnóstico por imagem , Acetazolamida/uso terapêutico , Ataxia/fisiopatologia , Blefaroptose , Encefalopatias/fisiopatologia , Encefalopatias/terapia , Lesões Encefálicas Difusas/fisiopatologia , Inibidores da Anidrase Carbônica/uso terapêutico , Líquido Cefalorraquidiano , Progressão da Doença , Disartria/fisiopatologia , Humanos , Hidrodinâmica , Imagem por Ressonância Magnética , Masculino , Transtornos da Motilidade Ocular/fisiopatologia , Ventriculostomia , Adulto Jovem
4.
Eur J Pharmacol ; 888: 173487, 2020 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-32805256

RESUMO

Acute kidney injury (AKI) is an important complication of COVID-19 encompassing a wide range of presentations. SARS-CoV-2 is proposed to cause AKI in the patients through various mechanisms. We are, nevertheless, far from a comprehensive understanding of the underlying pathophysiological mechanisms of the kidney injury in this infection. AKI has been shown to be a marker of disease severity and also a negative prognostic factor for survival. Unfortunately, no effective preventive strategy to decrease the risk of kidney damage in these patients has yet been identified. In this hypothesis, we highlight the potential protective effects of acetazolamide, a carbonic anhydrase inhibitor, in preventing the proximal tubular damage caused by the virus through disrupting the virus-endosome fusion and also interfering with the lysosomal proteases. Our proposed mechanisms could pave the way for further in vitro studies and subsequent clinical trials.


Assuntos
Acetazolamida/uso terapêutico , Lesão Renal Aguda/etiologia , Lesão Renal Aguda/prevenção & controle , Inibidores da Anidrase Carbônica/uso terapêutico , Infecções por Coronavirus/complicações , Pneumonia Viral/complicações , Humanos , Túbulos Renais Proximais/citologia , Túbulos Renais Proximais/virologia , Pandemias , Peptidil Dipeptidase A/metabolismo , Resultado do Tratamento
5.
PLoS One ; 15(6): e0234690, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32555666

RESUMO

The alternative mechanical theory of glaucoma, in which an increased pressure difference across the lamina cribrosa (difference between intraocular and intracranial pressure; IOP and ICP), rather than solely an elevated IOP, leads to structural and functional vision loss, is still controversial. If the theory is true, a drug that simultaneously lowers both the IOP and ICP may be ineffective. The aim of this study was to determine how acetazolamide (AAZ; a drug prescribed in glaucoma that aims to lower the IOP) affects both IOP and ICP in glaucoma patients and to compare the magnitude and time course of the induced pressure changes with those of healthy subjects not taking AAZ. IOP and noninvasive ICP (measured through emissions from the ear) were measured in 20 glaucoma patients taking 125 mg of AAZ twice daily. Measurements were taken for 30 minutes before taking the drug and for 2 hours post-ingestion. Comparisons were made with 13 age-similar controls. After 12 hours with no anti-glaucoma medication, AAZ did not further reduce IOP in glaucoma patients compared to controls (P = 0.58) but did reduce ICP compared to controls (P = 0.035), by approximately 4 mmHg. Our findings suggest that there are periods during the day when the pressure difference across the lamina cribrosa is larger in case of AAZ use. Future studies should focus on improving the noninvasive ICP testing, different doses and dosing schedules of AAZ, and the time course of IOP in glaucoma patients not taking AAZ.


Assuntos
Acetazolamida/farmacologia , Inibidores da Anidrase Carbônica/farmacologia , Glaucoma/tratamento farmacológico , Pressão Intracraniana/efeitos dos fármacos , Pressão Intraocular/efeitos dos fármacos , Acetazolamida/uso terapêutico , Idoso , Inibidores da Anidrase Carbônica/uso terapêutico , Feminino , Glaucoma/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade
6.
Med Hypotheses ; 143: 109851, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32534175

RESUMO

PURPOSE: Asymptomatic or minimally symptomatic infection with COVID-19 can result in silent transmission to large numbers of individuals, resulting in expansion of the pandemic with a global increase in morbidity and mortality. New ways of screening the general population for COVID-19 are urgently needed along with novel effective prevention and treatment strategies. HYPOTHESIS: A hypothetical three-part prevention, diagnostic, and treatment approach based on an up-to-date scientific literature review for COVID-19 is proposed. Regarding diagnosis, a validated screening questionnaire and digital app for COVID-19 could help identify individuals who are at risk of transmitting the disease, as well as those at highest risk for poor clinical outcomes. Global implementation and online tracking of vital signs and scored questionnaires that are statistically validated would help health authorities properly allocate essential health care resources to test and isolate those at highest risk for transmission and poor outcomes. Second, regarding prevention, no validated protocols except for physical distancing, hand washing, and isolation exist, and recently ivermectin has been published to have anti-viral properties against COVID-19. A randomized trial of ivermectin, and/or nutraceuticals that have been published to support immune function including glutathione, vitamin C, zinc, and immunomodulatory supplements (3,6 Beta glucan) could be beneficial in preventing transmission or lessening symptomatology but requires statistical validation. Third, concerning treatment, COVID-19 induced inflammation and "cytokine storm syndrome" with hemophagocytic lymphohistiocytosis (HLH)/Macrophage Activation Syndrome (MAS) have resulted in extreme morbidity and mortality in those with certain comorbidities, secondary to "acute respiratory distress syndrome" (ARDS) and multiorgan dysfunction with disseminated intravascular coagulation (DIC). Deficiency in red blood cell, serum and alveolar glutathione has been published in the medical literature for ARDS, as well as viral and bacterial pneumonias, resulting from increased levels of free radical/oxidative stress. A randomized controlled trial of blocking NF-κB and cytokine formation using glutathione precursors (N-acetyl-cysteine [NAC] and alpha lipoic acid) and PO/IV glutathione with associated anti-viral effects should be performed, along with an evaluation of Nrf2 activators (curcumin, sulforaphane glucosinolate) which have been scientifically proven to lower inflammation. Since high mortality rates from sepsis induced DIC due to COVID-19 infection has also been associated with thrombotic events and elevated levels of D-dimer, randomized controlled trials of using anticoagulant therapy with heparin is urgently required. This is especially important in patients on ventilators who have met certain sepsis induced coagulopathy (SIC) criteria. The use of acetazolamide with or without sildenafil also needs to be explored with or without heparin, since increased oxygen delivery to vital organs through prevention of thrombosis/pulmonary emboli along with carbonic anhydrase inhibition may help increase oxygenation and prevent adverse clinical outcomes. CONCLUSION AND IMPLICATIONS: A three-part prevention, diagnostic, and treatment plan is proposed for addressing the severe complications of COVID-19. Digital monitoring of symptoms to clinically diagnose early exposure and response to treatment; prevention with ivermectin as well as nutritional therapies that support a healthy immune response; treatment with anti-inflammatory therapies that block NF-κB and activate Nrf2 pathways, as well as novel therapies that address COVID-19 pneumonia and ARDS with DIC including anticoagulation and/or novel respiratory therapies with or without acetazolamide and sildenafil. These three broad-based interventions urgently need to be subjected to randomized, controlled trials.


Assuntos
Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/prevenção & controle , Infecções por Coronavirus/terapia , Pandemias/prevenção & controle , Pneumonia Viral/diagnóstico , Pneumonia Viral/prevenção & controle , Pneumonia Viral/terapia , Ensaios Clínicos Controlados Aleatórios como Assunto , Acetazolamida/uso terapêutico , Anti-Inflamatórios/uso terapêutico , Anticoagulantes/uso terapêutico , Técnicas de Laboratório Clínico , Infecções por Coronavirus/tratamento farmacológico , Dietoterapia , Humanos , Sistema Imunitário , Inflamação , Ivermectina/uso terapêutico , Programas de Rastreamento , Fator 2 Relacionado a NF-E2/antagonistas & inibidores , NF-kappa B/antagonistas & inibidores , Alocação de Recursos , Risco , Citrato de Sildenafila/uso terapêutico , Resultado do Tratamento
7.
Acta otorrinolaringol. esp ; 71(3): 140-146, mayo-jun. 2020. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-192628

RESUMO

ANTECEDENTES Y OBJETIVO: La migraña vestibular (MV) es una de las causas de síndrome vestibular episódico. Existen muchos fármacos disponibles para su profilaxis y actualmente su elección se realiza mayoritariamente según las comorbilidades del paciente. El objetivo de este artículo es medir la concordancia de un grupo de otorrinolaringólogos en la elección de profilaxis y evaluar el papel que ejerce sobre esta un algoritmo asistido para la elección de profilaxis. MATERIAL Y MÉTODO: Las historias clínicas de 10 pacientes con MV fueron ofrecidas a 10 otorrinolaringólogos, a los que se les pidió que seleccionasen para cada paciente el fármaco que considerasen más adecuado entre 5 opciones posibles. Se calcularon los índices κ de Fleiss entre los 10 otorrinolaringólogos solos y se recalcularon incluyendo al algoritmo como undécimoevaluador, y la κ de Cohen entre cada otorrinolaringólogo y el algoritmo. Se ofreció a los otorrinolaringólogos la opción de cambiar su respuesta tras conocer la respuesta del algoritmo, y ambos índices fueron calculados nuevamente. RESULTADOS: El índice κ de Fleiss fue de 0,302. Dicho índice se elevó a 0,343 tras introducir al algoritmo como evaluador. Tras ofrecer las soluciones propuestas por el algoritmo, se mejoró la κ de Cohen en 9 de los 10 evaluadores y la κ de Fleiss subió a 0,711. CONCLUSIONES: La concordancia entre otorrinolaringólogos para elegir profilaxis para la MV se define como «justa». Las respuestas del algoritmo para la elección de profilaxis se situaron próximas a la opinión media de los otorrinolaringólogos, elevando la concordancia entre ellos a «sustancial»


BACKGROUND AND OBJECTIVE: Vestibular migraine (VM) is a cause of episodic vestibular syndrome. There are many drugs available for its prophylaxis and currently the choice is mainly made according to the patient's comorbidities. The aim of this article was to measure the agreement of a group of otorhinolaryngologists in the choice of a prophylactic treatment and to evaluate the role of an assisted algorithm in the choice of this prophylaxis. MATERIAL AND METHOD: The medical records of 10 patients with VM were offered to 10 otolaryngologists who were asked to select for each patient the drug they considered most appropriate among five possible options. The Fleiss' κ index was calculated among the 10 otolaryngologists alone, recalculating it including the algorithm as the eleventh evaluator, and Cohen's κ index was calculated between each otolaryngologist and the answers of the algorithm. The otolaryngologists were offered the option to change their responses after knowing the responses of the algorithm and then both indexes were calculated again. RESULTS: The Fleiss' κ index was .302. This index was raised to .343 after introducing the algorithm as an evaluator. After offering the responses proposed by the algorithm, Cohen's κ was improved in 9 of the 10 evaluators, and Fleiss' κ rose to .711. CONCLUSIONS: The agreement between otorhinolaryngologists in choosing prophylaxis for MV can be defined as "fair". The responses of the algorithm for the choice of prophylaxis were close to the average opinion of the otolaryngologists, raising the agreement between them to "substantial"


Assuntos
Humanos , Feminino , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Antibioticoprofilaxia , Algoritmos , Doenças Vestibulares/etiologia , Transtornos de Enxaqueca/tratamento farmacológico , Acetazolamida/uso terapêutico , Propranolol/uso terapêutico , Flunarizina/uso terapêutico , Topiramato/uso terapêutico , Doenças Vestibulares/prevenção & controle , Amitriptilina/uso terapêutico
8.
J Clin Neurosci ; 76: 171-176, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32331944

RESUMO

The aim of the current study was to assess the risk factors, clinical symptoms and Cerebrospinal fluid (CSF) pressure of idiopathic intracranial hypertension (IIH) with emphasis on determining the risk factors which involved in poor response to treatment. We retrospectively included 202 patients who were diagnosed with IIH. Disease severity was classified according to prescribed therapeutic option into 4 groups: acetazolamide (group 1), Acetazolamide plus topiramate or Lasix (group 2), repeated LP (group 3) and surgical intervention (group 4). Being in the higher group was considered as a higher severity of disease and poor response to treatment. Among the evaluated features of IIH, the strongest association were observed between opening CSF pressure and disease severity. So that, the highest CSF pressure was observed in patients who underwent surgery, which represent the highest severity of disease (group 4) and poor response to therapy (mean ± SD: 43.9 ± 21.1 cm H2O). Headache was the most prevalent symptom of IIH in our series which was significantly higher among acetazolamide group. Blurred vision was the second most common symptoms which, unlike the headache was more reported in surgery group. Our results suggested that higher CSF pressure could be the risk factors of poor response to therapy, which may raise need for more intensive treatment. Furthermore, suffering of headache without blurred vision can consider as a prognostic factor for mild severity and good response to treatment.


Assuntos
Pressão do Líquido Cefalorraquidiano/fisiologia , Hipertensão Intracraniana/terapia , Acetazolamida/uso terapêutico , Adulto , Anticonvulsivantes/uso terapêutico , Diuréticos/uso terapêutico , Feminino , Cefaleia/etiologia , Humanos , Hipertensão Intracraniana/diagnóstico , Hipertensão Intracraniana/etiologia , Hipertensão Intracraniana/cirurgia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Topiramato/uso terapêutico , Resultado do Tratamento , Transtornos da Visão/etiologia
9.
Med Hypotheses ; 140: 109760, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32344310

RESUMO

A novel virus named 2019 novel coronavirus (2019-nCoV/SARS-CoV-2) causes symptoms that are classified as coronavirus disease (COVID-19). Respiratory conditions are extensively described among more serious cases of COVID-19, and the onset of acute respiratory distress syndrome (ARDS) is one of the hallmark features of critical COVID-19 cases. ARDS can be directly life-threatening because it is associated with low blood oxygenation levels and can result in organ failure. There are no generally recognized effective treatments for COVID-19, but treatments are urgently needed. Anti-viral medications and vaccines are in the early developmental stages and may take many months or even years to fully develop. At present, management of COVID-19 with respiratory and ventilator support are standard therapeutic treatments, but unfortunately such treatments are associated with high mortality rates. Therefore, it is imperative to consider novel new therapeutic interventions to treat/ameliorate respiratory conditions associated with COVID-19. Alternate treatment strategies utilizing clinically available treatments such as hyperbaric oxygen therapy (HBOT), packed red blood cell (pRBC) transfusions, or erthropoiesis-stimulating agent (ESA) therapy were hypothesized to increase oxygenation of tissues by alternative means than standard respiratory and ventilator treatments. It was also revealed that alternative treatments currently being considered for COVID-19 such as chloroquine and hydroxychloroquine by increasing hemoglobin production and increasing hemoglobin availability for oxygen binding and acetazolamine (for the treatment of altitude sickness) by causing hyperventilation with associated increasing levels of oxygen and decreasing levels of carbon dioxide in the blood may significantly ameliorate COVID-19 respiratory symptoms. In conclusion, is recommend, given HBOT, pRBC, and ESA therapies are currently available and routinely utilized in the treatment of other conditions, that such therapies be tried among COVID-19 patients with serious respiratory conditions and that future controlled-clinical trials explore the potential usefulness of such treatments among COVID-19 patients with respiratory conditions.


Assuntos
Infecções por Coronavirus/mortalidade , Infecções por Coronavirus/terapia , Pneumonia Viral/mortalidade , Pneumonia Viral/terapia , Acetazolamida/uso terapêutico , Antivirais/uso terapêutico , Betacoronavirus , Capilares/efeitos dos fármacos , Infecções por Coronavirus/tratamento farmacológico , Transfusão de Eritrócitos , Hematínicos/uso terapêutico , Humanos , Oxigenação Hiperbárica , Oxigênio/sangue , Pandemias , /virologia
10.
Muscle Nerve ; 62(4): 430-444, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32270509

RESUMO

The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterized by myotonia, defined as delayed muscle relaxation after voluntary contraction, which leads to symptoms of muscle stiffness, pain, fatigue, and weakness. Diagnosis is based on history and examination findings, the presence of electrical myotonia on electromyography, and genetic confirmation. In the absence of genetic confirmation, the diagnosis is supported by detailed electrophysiological testing, exclusion of other related disorders, and analysis of a variant of uncertain significance if present. Symptomatic treatment with a sodium channel blocker, such as mexiletine, is usually the first step in management, as well as educating patients about potential anesthetic complications.


Assuntos
Fadiga/fisiopatologia , Debilidade Muscular/fisiopatologia , Músculo Esquelético/fisiopatologia , Mialgia/fisiopatologia , Transtornos Miotônicos/fisiopatologia , Acetazolamida/uso terapêutico , Idade de Início , Inibidores da Anidrase Carbônica/uso terapêutico , Canais de Cloreto/genética , Eletrodiagnóstico , Eletromiografia , Testes Genéticos , Humanos , Lamotrigina/uso terapêutico , Mexiletina/uso terapêutico , Miotonia Congênita/tratamento farmacológico , Miotonia Congênita/genética , Miotonia Congênita/fisiopatologia , Transtornos Miotônicos/genética , Canal de Sódio Disparado por Voltagem NAV1.4/genética , Guias de Prática Clínica como Assunto , Ranolazina/uso terapêutico , Bloqueadores dos Canais de Sódio/uso terapêutico , Bloqueadores do Canal de Sódio Disparado por Voltagem/uso terapêutico
12.
J Clin Neurosci ; 73: 252-258, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32037062

RESUMO

Cerebral collaterals is crucially important in the pathophysiology of acute ischemic stroke and associated with outcome after reperfusion therapy. We explored the effectiveness of collateral augmentation treatment with a combination of acetazolamide (ACZ) and head-down tilt (HDT) in the transient middle cerebral artery occlusion (MCAO) rat model. Transient MCAO was induced in all animals for 1.5 h, followed by reperfusion for 22.5 h. Seventy-two male Wistar rats were divided into four treatment groups: control, ACZ, HDT, and combination. Twenty sham rats, which underwent surgery, were randomly allocated to these groups. Twenty-four hours after MCAO or sham surgery, we measured the infarction volume, brain edema (aquaporin-4 [AQP4], and brain water content), and neurological deficits (Garcia and Longa tests). Collateral augmentation treatments were associated with reduced infarction volume, less brain edema, and better neurological outcomes compared with untreated animals. More specifically, ACZ and HDT treatments resulted in small infarction volumes, and HDT was associated with a low AQP4 expression and improved neurological score, while the combination of ACZ and HDT improved neurological scores and reduced brain water content. This study shows that collateral augmentation treatments are associated with a better stroke prognosis compared with untreated animals after transient MCAO. The combination of ACZ and HDT seems to have some synergistic effect, but was not proven to be superior to HDT treatment alone.


Assuntos
Acetazolamida/uso terapêutico , Anticonvulsivantes/uso terapêutico , Inibidores da Anidrase Carbônica/uso terapêutico , Decúbito Inclinado com Rebaixamento da Cabeça , Infarto da Artéria Cerebral Média/terapia , Acetazolamida/administração & dosagem , Animais , Anticonvulsivantes/administração & dosagem , Inibidores da Anidrase Carbônica/administração & dosagem , Infarto da Artéria Cerebral Média/tratamento farmacológico , Masculino , Ratos , Ratos Wistar
13.
Rev Paul Pediatr ; 38: e2018239, 2020.
Artigo em Inglês, Português | MEDLINE | ID: mdl-31939513

RESUMO

OBJECTIVE: To describe a case of a male adolescent with symptomatic idiopathic intracranial hypertension (IIH) associated with obesity treated with bariatric surgery. CASE DESCRIPTION: A 16-year-and-6-month-old severely obese boy [weight: 133.6 kg; height: 1.74 m (Z score: +0.14); BMI: 44.1 kg/m2 (Z score: +4.4)], Tanner pubertal stage 5, presented biparietal, high-intensity, and pulsatile headaches, about five times per week, associated with nocturnal awakenings, and partial improvement with common analgesics, for three months. Ophthalmologic evaluation evidenced bilateral papilledema. Cranial computed tomography revealed no mass or anatomic abnormalities. Lumbar puncture showed increased intracranial pressure of 40 cmH2O (reference value: <28 cmH2O) with a normal content. After being diagnosed with IIH, the patient was started on acetazolamide. However, after three months, he was still symptomatic. He was diagnosed with obesity due to excess energy intake and, as he had failed to lose weight after a conventional clinical treatment, bariatric surgery was indicated. The patient (at 16 years and nine months) underwent an uncomplicated laparoscopic sleeve gastrectomy. Ophthalmologic evaluation, performed five months after surgery, revealed normal visual acuity in both eyes and improvement of bilateral papilledema. Follow-up at 18 months showed a 67.5% loss of excess weight (weight: 94.5 kg and BMI: 31.2 kg/m2) and complete resolution of IIH symptoms. COMMENTS: IIH is characterized by increased intracranial pressure with no evidence of deformity or obstruction of the ventricular system on neuroimaging. It has been associated with obesity. Bariatric surgery may be a valid alternative approach for morbidly obese adolescent patients with refractory symptoms.


Assuntos
Cirurgia Bariátrica/métodos , Obesidade Mórbida/cirurgia , Pseudotumor Cerebral/fisiopatologia , Acetazolamida/uso terapêutico , Adolescente , Assistência ao Convalescente , Diuréticos/uso terapêutico , Fundo de Olho , Cefaleia/diagnóstico , Cefaleia/etiologia , Humanos , Masculino , Papiledema/diagnóstico por imagem , Pseudotumor Cerebral/diagnóstico , Pseudotumor Cerebral/tratamento farmacológico , Punção Espinal/métodos , Resultado do Tratamento , Perda de Peso/fisiologia
14.
Eur J Paediatr Neurol ; 25: 181-186, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31810576

RESUMO

BACKGROUND: Paroxysmal tonic upgaze (PTU), defined as an involuntary upward movement of the eyes, has been considered as a benign phenomenon but may also be associated with ataxia and developmental delay. METHODS: We report eight children with PTU; six of them also exhibiting symptoms of ataxia and/or developmental delay. Treatment with carbonic anhydrase inhibition was offered to children with persisting and/or severe forms. RESULTS: Whole-exome sequencing and genome-wide array analysis (n = 7) did not reveal mutations in the three known genes associated with PTU (CACNA1A, GRID2, SEPSECS), whereas by MLPA a heterozygous deletion of exon 31 of the CACNA1A gene could be detected in one patient, her mother and two further family members. Further exome and array analysis showed no recurrent variants in potentially novel PTU-related genes in more than one patient. A de novo variant at a highly conserved position in the SIM1 gene was detected in one patient, for which a pathogenic effect could be speculated. Carbonic anhydrase inhibition was started in five children and proved at least partially effective in all of them. CONCLUSION: Irrespective of the clinical background and the molecular basic mechanism of PTU, therapeutic carbonic anhydrase inhibition was effective in all five children (acetazolamide, n = 3; sultiame, n = 2) who received this treatment.


Assuntos
Inibidores da Anidrase Carbônica/uso terapêutico , Fixação Ocular , Transtornos da Motilidade Ocular/tratamento farmacológico , Acetazolamida/uso terapêutico , Pré-Escolar , Feminino , Fixação Ocular/efeitos dos fármacos , Humanos , Lactente , Masculino , Mutação , Transtornos da Motilidade Ocular/genética , Tiazinas/uso terapêutico
15.
Chest ; 157(2): 394-402, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31047953

RESUMO

Sleep-disordered breathing (SDB), including OSA and central sleep apnea, is highly prevalent in patients with heart failure (HF). Multiple studies have reported this high prevalence in asymptomatic as well as symptomatic patients with reduced left ventricular ejection fraction (HFrEF), as well as in those with HF with preserved ejection fraction. The acute pathobiologic consequences of OSA, including exaggerated sympathetic activity, oxidative stress, and inflammation, eventually could lead to progressive left ventricular dysfunction, repeated hospitalization, and excessive mortality. Large numbers of observational studies and a few small randomized controlled trials have shown improvement in various cardiovascular consequences of SDB with treatment. There are no long-term randomized controlled trials to show improved survival of patients with HF and treatment of OSA. One trial of positive airway pressure treatment of OSA included patients with HF and showed no improvement in clinical outcomes. However, any conclusions derived from this trial must take into account several important pitfalls that have been extensively discussed in the literature. With the role of positive airway pressure as the sole therapy for SDB in HF increasingly questioned, a critical examination of long-accepted concepts in this field is needed. The objective of this review was to incorporate recent advances in the field into a phenotype-based approach to the management of OSA in HF.


Assuntos
Pressão Positiva Contínua nas Vias Aéreas/métodos , Terapia por Estimulação Elétrica , Insuficiência Cardíaca/fisiopatologia , Apneia Obstrutiva do Sono/terapia , Acetazolamida/uso terapêutico , Dióxido de Carbono , Inibidores da Anidrase Carbônica/uso terapêutico , Exercício Físico , Insuficiência Cardíaca/complicações , Humanos , Nervo Hipoglosso , Hipotonia Muscular , Oxigenoterapia , Músculos Faríngeos , Fenótipo , Apneia Obstrutiva do Sono/complicações , Apneia Obstrutiva do Sono/fisiopatologia
16.
Neurosciences (Riyadh) ; 24(4): 257-263, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31872803

RESUMO

OBJECTIVE: To review the experience of 2 tertiary centers in Saudi Arabia with intracranial hypertension (IH) in the pediatric population. METHODS: We retrospectively reviewed and analyzed pediatric patients diagnosed with IH from June 2002 to May 2017 in 2 institutes. RESULTS: We identified 53 patients (30 females and 23 males) with a mean age of 7 years at the time of presentation. Among them, 41 patients were younger than 12 years, and 12 were older. Obese and overweight patients constituted 27.00% (n = 14) of all cases, 8 (66.7%) of whom were older than 12 years. The most common presenting feature was papilledema followed by headache. Vitamin D deficiency, which constituted the most common associated condition, was identified in 12 (22.6%) patients. Acetazolamide was the treatment option in 98.11% of patients, and only 5.7% underwent surgical interventions. The length of follow-up ranged from 6 months to 8 years. CONCLUSION: Intracranial hypertension is rare in children and commonly seen in overweight females older than 12 years similar to adults. Patients younger than 12 years tend to develop secondary IH. More studies are needed to characterize the clinical presentation and guide the management plan.


Assuntos
Cefaleia/epidemiologia , Hipertensão Intracraniana/complicações , Obesidade/epidemiologia , Papiledema/epidemiologia , Deficiência de Vitamina D/epidemiologia , Acetazolamida/uso terapêutico , Criança , Pré-Escolar , Diuréticos/uso terapêutico , Feminino , Hospitais Pediátricos/estatística & dados numéricos , Humanos , Lactente , Hipertensão Intracraniana/tratamento farmacológico , Hipertensão Intracraniana/epidemiologia , Hipertensão Intracraniana/patologia , Masculino , Arábia Saudita , Centros de Atenção Terciária/estatística & dados numéricos
17.
Korean J Ophthalmol ; 33(6): 493-499, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31833245

RESUMO

PURPOSE: We sought to elucidate the influence of acetazolamide on choroidal structure changes during the treatment of central serous chorioretinopathy (CSC). METHODS: This was a retrospective study of 45 eyes from 45 patients with acute CSC who were divided into an acetazolamide group (group 1, n = 20) and an observation group (group 2, n = 25). The main outcome measures were the changes in best-corrected visual acuity, subretinal fluid (SRF) height, subfoveal choroidal thickness (SFCT), and choroidal vascularity index (CVI) at one week, one month, two months, and three months, respectively. RESULTS: Although statistical significance was not reached, best-corrected visual acuity improved in both groups at month 3 (from 0.06 ± 0.07 to 0.01 ± 0.03 in group 1 and 0.17 ± 0.24 to 0.09 ± 0.18 in group 2; p = 0.083 and 0.183, respectively). Separately, SRF height and CVI showed a significant decrease at three months in both groups (all p < 0.05), while a significant SRF height decrease was also noted in group 1 at one month (p = 0.038). In group 1, a significant decrease in the SFCT and CVI started at one week and one month (p = 0.021 and 0.008), respectively. However, in group 2, a significant decrease in the SFCT and CVI started at one month and two months (p = 0.005 and 0.015), respectively. CONCLUSIONS: Acetazolamide has no effect on final functional or anatomical status at three months in eyes with CSC but does shorten the time for SRF absorption and accompanying choroidal structural changes.


Assuntos
Acetazolamida/uso terapêutico , Inibidores da Anidrase Carbônica/uso terapêutico , Coriorretinopatia Serosa Central/tratamento farmacológico , Corioide/efeitos dos fármacos , Adulto , Estudos de Casos e Controles , Coriorretinopatia Serosa Central/diagnóstico por imagem , Coriorretinopatia Serosa Central/fisiopatologia , Corioide/irrigação sanguínea , Corantes/administração & dosagem , Feminino , Angiofluoresceinografia , Humanos , Verde de Indocianina/administração & dosagem , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Líquido Sub-Retiniano , Tomografia de Coerência Óptica , Acuidade Visual/fisiologia
18.
Arch. Soc. Esp. Oftalmol ; 94(12): 614-618, dic. 2019. ilus
Artigo em Espanhol | IBECS | ID: ibc-190015

RESUMO

Mujer de 36 años diagnosticada de hipertensión intracraneal idiopática tratada con acetazolamida y topiramato, que presenta desprendimientos neurosensoriales retinianos. La paciente fue seguida durante 2 años estableciéndose una relación entre los desprendimientos neurosensoriales y el topiramato, con recurrencias tras la introducción del topiramato y mejoría tras la retirada del mismo. Estos hechos señalan al topiramato como posible responsable del cuadro. El topiramato podría ser responsable de la aparición de desprendimientos neurosensoriales de la retina y mácula. Aunque los casos de efusión cilio coroidea producidos por este fármaco son bien conocidos, sus efectos secundarios sobre la retina son menos frecuentes. Ya que se trata de un fármaco de amplio uso, tanto neurólogos como oftalmólogos deberían ser conscientes de sus posibles efectos secundarios


A 36 year-old woman with idiopathic intracranial hypertension was treated with topiramate and acetazolamide. The patient was followed-up for 2 years, with a relationship between neurosensory detachments and topiramate being established, with recurrences after the introduction of topiramato and improvement after its withdrawal. These findings point topiramate as a possible cause of the clinical picture. Topiramate may cause retinal and macular neurosensory detachments. Although the ciliochoroidal effusion cases caused by this drug are well-known, its retinal side effects are less common. As it is a widely used drug, neurologists and ophthalmologists should be aware of its possible ocular side effects


Assuntos
Humanos , Feminino , Adulto , Anti-Hipertensivos/efeitos adversos , Macula Lutea , Descolamento Retiniano/induzido quimicamente , Topiramato/efeitos adversos , Acetazolamida/uso terapêutico , Anti-Hipertensivos/uso terapêutico , Fundo de Olho , Hipertensão Intracraniana/tratamento farmacológico , Recidiva , Tomografia de Coerência Óptica
19.
BMJ Case Rep ; 12(11)2019 Nov 19.
Artigo em Inglês | MEDLINE | ID: mdl-31748372

RESUMO

Use of medications including vitamin A derivatives and tetracyclines have been associated with papilledema and raised intracranial pressure. A 46-year-old woman was referred to neuro-ophthalmology for bilateral optic disc oedema and had a 7-year history of cyclosporine use after renal transplantation. She had preserved visual function and moderate bilateral optic disc oedema. Magnetic resonance imaging and magnetic resonance venography of the brain were normal apart from signs of raised intracranial pressure. Lumbar puncture revealed an elevated opening pressure of 40 cm of water with normal cerebrospinal fluid contents. Nephrology was consulted and cyclosporine was switched to tacrolimus and she was treated with acetazolamide. The papilledema resolved within 1 month of her initial visit. It is important to recognise the role that cyclosporine plays in raising intracranial pressure, especially in patients requiring immunosuppression, such as transplant patients. Tacrolimus is a suitable alternative in these cases.


Assuntos
Ciclosporina/efeitos adversos , Imunossupressores/efeitos adversos , Hipertensão Intracraniana/induzido quimicamente , Papiledema/induzido quimicamente , Papiledema/tratamento farmacológico , Acetazolamida/uso terapêutico , Ciclosporina/uso terapêutico , Diagnóstico Diferencial , Diuréticos/uso terapêutico , Feminino , Humanos , Imunossupressores/uso terapêutico , Hipertensão Intracraniana/diagnóstico , Pressão Intracraniana/efeitos dos fármacos , Transplante de Rim/efeitos adversos , Imagem por Ressonância Magnética , Pessoa de Meia-Idade , Papiledema/diagnóstico por imagem , Punção Espinal/métodos , Tacrolimo/uso terapêutico , Resultado do Tratamento
20.
Pediatr Emerg Care ; 35(11): e198-e200, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31688803

RESUMO

Traumatic brain injury is one of the most common pediatric injuries; totaling more than 500,000 emergency department visits per year. When the injury involves a skull fracture, sinus venous thrombosis and the risk of resultant increased intracranial pressure (ICP) are a concern. We describe a previously healthy 11-month-old female infant with nondepressed skull fracture who developed increased ICP in the absence of intracranial changes on imaging. Funduscopic examination revealed unilateral papilledema, and opening pressure on lumbar puncture was elevated at 35 cm of H2O. Computed tomography scan demonstrated a nondepressed occipital bone fracture. However, further imaging, including magnetic resonance imaging with angiogram/venogram, did not reveal any intracranial abnormalities. In particular, there was no evidence of sinus venous thrombosis. Given her presentation and signs of increased ICP, she was started on acetazolamide and improved dramatically. A thorough literature search was completed but yielded no information on infants with increased ICP after nondepressed skull fracture in the absence of radiographic findings to suggest a cause for the increase in pressure. Trauma alone can lead to increased ICP secondary to several processes, although this is expected in moderate to severe head trauma. Our case demonstrates that increased ICP can be present in infants with mild traumatic brain injury in the absence of intracranial pathology. This should be considered in patients who present with persistent vomiting that is refractory to antiemetics.


Assuntos
Lesões Encefálicas Traumáticas/etiologia , Pressão Intracraniana , Papiledema/etiologia , Fratura da Base do Crânio/complicações , Acetazolamida/uso terapêutico , Feminino , Humanos , Lactente , Papiledema/diagnóstico , Papiledema/tratamento farmacológico , Fratura da Base do Crânio/diagnóstico por imagem , Punção Espinal , Tomografia Computadorizada por Raios X , Vômito/etiologia
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