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2.
Mov Disord Clin Pract ; 7(4): 459-461, 2020 May.
Article in English | MEDLINE | ID: mdl-32373665

ABSTRACT

https://onlinelibrary.wiley.com/page/journal/23301619/homepage/mdc312943-sup-v001.htm.

3.
Cerebellum ; 16(4): 852-858, 2017 08.
Article in English | MEDLINE | ID: mdl-28456900

ABSTRACT

Spinocerebellar ataxia type 2 (SCA2), caused by a CAG expansion (CAGexp) at ATXN2, has a complex clinical picture. While validated ataxia scales are available, comprehensive instruments to measure all SCA2 neurological manifestations are required. This study aims to validate the Neurological Examination Score for the assessment of Spinocerebellar Ataxias (NESSCA) to be used in SCA2 and to compare its responsiveness to those obtained with other instruments. NESSCA, SARA, SCAFI, and CCFS scales were applied in symptomatic SCA2 patients. Correlations were done with age at onset, disease duration, CAGexp, and between scales. Responsiveness was estimated by comparing deltas of stable to worse patients after 12 months, according to Patient Global Impression of change, and the area under the curve (AUC) of the Receiver Operating Characteristics curve of scores range. Eighty-eight evaluations (49 patients) were obtained. NESSCA had an even distribution and correlated with disease duration (r = 0.55), SARA (r = 0.63), and CAGexp (rho = 0.32): both explained 44% of NESSCA variance. Deltas (95% CI) after 1 year in stable and worse patients were only significantly different for SARA. NESSCA, SARA, SCAFI, and CCFS AUC were 0.63, 0.81, 0.49, and 0.48, respectively. NESSCA is valid to be used in SCA2. However, the only instrument that presented good responsiveness to change in 1 year was SARA. We suggest that NESSCA can be used as a secondary outcome in future trials in SCA2 due to the burden of neurological disabilities related to disease progression.


Subject(s)
Neurologic Examination , Severity of Illness Index , Spinocerebellar Ataxias/diagnosis , Adult , Age of Onset , Aged , Area Under Curve , Disease Progression , Female , Follow-Up Studies , Heterozygote , Humans , Male , Middle Aged , ROC Curve , Spinocerebellar Ataxias/genetics , Spinocerebellar Ataxias/physiopathology , Young Adult
4.
J Sleep Res ; 25(6): 720-723, 2016 12.
Article in English | MEDLINE | ID: mdl-27377205

ABSTRACT

Spinocerebellar ataxia type 6 (SCA6) is usually described as a pure ataxia syndrome. However, SCA6 patients may have sleep complaints. In this paper, sleep disorders were investigated in patients with SCA6. Twelve SCA6 patients and 12 subjects matched by gender, age and body mass index (control group) underwent polysomnography and clinical investigation for sleep disorders. SCA6 had a higher frequency of snoring (P = 0.01), a higher index of awakening due to respiratory events (P = 0.003) and central apnea events during sleep (P = 0.024), a longer sleep Stage N1 (P = 0.02) and a lower sleep Stage N3 (P = 0.05) in SCA6 patients than in control subjects. SCA6 patients had a reduction in slow wave sleep and a higher frequency of snoring and respiratory disorders during sleep when compared to the control group.


Subject(s)
Polysomnography , Sleep Apnea, Central/complications , Sleep Wake Disorders/complications , Sleep Wake Disorders/physiopathology , Snoring/complications , Spinocerebellar Ataxias/complications , Spinocerebellar Ataxias/physiopathology , Body Mass Index , Case-Control Studies , Female , Humans , Male , Middle Aged , Respiration , Sleep Apnea, Central/physiopathology , Sleep Stages , Snoring/physiopathology , Wakefulness
5.
Brain ; 139(Pt 1): 73-85, 2016 Jan.
Article in English | MEDLINE | ID: mdl-26556829

ABSTRACT

Charcot-Marie-Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes. Hundreds of causative DNA changes have been found, but much of the genetic basis of the disease is still unexplained. Mutations in the ALS5/SPG11/KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and peripheral axonal neuropathy, and account for ∼ 40% of autosomal recessive juvenile amyotrophic lateral sclerosis. The overlap of axonal Charcot-Marie-Tooth disease with both diseases, as well as the common autosomal recessive inheritance pattern of thin corpus callosum and axonal Charcot-Marie-Tooth disease in three related patients, prompted us to analyse the ALS5/SPG11/KIAA1840 gene in affected individuals with autosomal recessive axonal Charcot-Marie-Tooth disease. We investigated 28 unrelated families with autosomal recessive axonal Charcot-Marie-Tooth disease defined by clinical, electrophysiological, as well as pathological evaluation. Besides, we screened for all the known genes related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/MED25, CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum (SLC12A6). Mitochondrial disorders related to Charcot-Marie-Tooth disease type 2 were also excluded by sequencing POLG and TYMP genes. An additional locus for autosomal recessive Charcot-Marie-Tooth disease type 2H on chromosome 8q13-21.1 was excluded by linkage analysis. Pedigrees originated in Italy, Brazil, Canada, England, Iran, and Japan. Interestingly, we identified 15 ALS5/SPG11/KIAA1840 mutations in 12 families (two sequence variants were never reported before, p.Gln198* and p.Pro2212fs*5). No large deletions/duplications were detected in these patients. The novel mutations seemed to be pathogenic since they co-segregated with the disease in all pedigrees and were absent in 300 unrelated controls. Furthermore, in silico analysis predicted their pathogenic effect. Our results indicate that ALS5/SPG11/KIAA1840 is the causative gene of a wide spectrum of clinical features, including autosomal recessive axonal Charcot-Marie-Tooth disease.


Subject(s)
Charcot-Marie-Tooth Disease/genetics , Genes, Recessive/genetics , Mutation , Proteins/genetics , Case-Control Studies , Female , Humans , Male , Pedigree , Peripheral Nervous System Diseases/genetics , Spastic Paraplegia, Hereditary/genetics
7.
Arq Neuropsiquiatr ; 69(2A): 253-7, 2011 Apr.
Article in English | MEDLINE | ID: mdl-21537570

ABSTRACT

Cerebellar ataxias comprise a wide range of etiologies leading to central nervous system-related motor and non-motor symptoms. Recently, a large body of evidence has demonstrated a high frequency of non-motor manifestations in cerebellar ataxias, specially in autosomal dominant spinocerebellar ataxias (SCA). Among these non-motor dysfunctions, sleep disorders have been recognized, although still under or even misdiagnosed. In this review, we highlight the main sleep disorders related to cerebellar ataxias focusing on REM sleep behavior disorder (RBD), restless legs syndrome (RLS), periodic limb movement in sleep (PLMS), excessive daytime sleepiness (EDS), insomnia and sleep apnea.


Subject(s)
Cerebellar Ataxia/complications , Sleep Wake Disorders/etiology , Humans , Polysomnography , Sleep Wake Disorders/classification
8.
Arq. neuropsiquiatr ; 69(2a): 253-257, Apr. 2011. ilus, tab
Article in English | LILACS | ID: lil-583782

ABSTRACT

Cerebellar ataxias comprise a wide range of etiologies leading to central nervous system-related motor and non-motor symptoms. Recently, a large body of evidence has demonstrated a high frequency of non-motor manifestations in cerebellar ataxias, specially in autosomal dominant spinocerebellar ataxias (SCA). Among these non-motor dysfunctions, sleep disorders have been recognized, although still under or even misdiagnosed. In this review, we highlight the main sleep disorders related to cerebellar ataxias focusing on REM sleep behavior disorder (RBD), restless legs syndrome (RLS), periodic limb movement in sleep (PLMS), excessive daytime sleepiness (EDS), insomnia and sleep apnea.


As ataxias cerebelares se caracterizam por uma enorme variedade de etiologias, cursando tanto com sintomas motores como também com sintomas não motores. Recentemente, várias evidências têm demonstrado uma frequência elevada de sintomas não motores nas ataxias cerebelares, especialmente nas ataxias espinocerebelares autossômicas dominantes (SCA). Dentre os sintomas não motores, estão os distúrbios do sono, que muitas vezes são sub-diagnosticados ou pouco valorizados. Nessa revisão, enfatizamos os principais distúrbios do sono relatados nas ataxias cerebelares, como transtorno comportamental do sono REM, síndrome das pernas inquietas, movimentos periódicos das pernas no sono, sonolência diurna excessiva, insônia e apnéia do sono.


Subject(s)
Humans , Cerebellar Ataxia/complications , Sleep Wake Disorders/etiology , Polysomnography , Sleep Wake Disorders/classification
9.
Rev. bras. ter. intensiva ; 19(2): 242-244, abr.-jun. 2007. ilus
Article in Portuguese | LILACS | ID: lil-466825

ABSTRACT

JUSTIFICATIVA E OBJETIVOS: A sepse durante a gestação é uma complicação rara. O comprometimento fetal resulta principalmente da descompensação materna, por conseguinte, o tratamento deve ser direcionado ao bem-estar da mãe. Poucas evidências permitem extrapolar o tratamento de pacientes não gestantes para as gestantes, porém, o tratamento baseado no Surviving Sepsis Campaing parece adequado e prático. O objetivo deste estudo foi rever o tratamento da sepse na gestação e relatar um caso de gestante com sepse grave que evoluiu favoravelmente. RELATO DO CASO: Paciente com 22 anos, primigesta, na 27ª semana de gestação foi internada com diagnóstico de pielonefrite aguda. Um dia após a internação apresentou quadro de sepse, com hipoxemia refratária às medidas não-invasivas necessitando de intubação traqueal. Após a intubação evoluiu com hipotensão refratária à expansão volêmica necessitando de fármaco vasoativo. Foi interrompido o uso de noradrenalina no mesmo dia e prescrito cefepima. Evoluiu com importante melhora dos padrões ventilatórios, sendo extubada e recebeu alta hospitalar logo após completar o tratamento com antibiótico. Ao completar a 42ª semana de gestação foi internada para indução do trabalho de parto, sendo realizado parto vaginal, sem intercorrências. CONCLUSÕES: A sepse na gestação, mesmo sendo rara é potencialmente fatal. O tratamento foi baseado no Surviving Sepsis Campaign e a paciente apresentou melhora significativa dos parâmetros de perfusão nas primeiras horas com ótima evolução, apesar da gravidade da doença.


BACKGROUND AND OBJECTIVES: Sepsis during pregnancy is a rare complication. This potentially fatal disease often occurs due to maternal infectious and can lead to fetal loss. Therefore, any attempted treatment must be aimed at the motherÆs well being. As a matter of fact, there are few recent medical publications about sepsis in pregnancy. In spite of this, the treatment based on Surviving Sepsis Campaign seems suitable and practical. The aim of this article is making a case report highlighting a very well succeeded treatment of a pregnant woman with urinary sepsis. CASE REPORT: A 22 year old in her 27th week of pregnancy is hospitalized with pyelonefhritis. One day later, she begins presenting signs of sepsis and unresponsive hypoxemia, resulting in intubation. Afterwards, she evolved with persistent low blood pressure that was unresponsive to volume expansion and had to be put on vasopressor medication. She received intensive care support based on Surviving Sepsis Campaign. The patient evolved with an important improvement of her ventilatory stats and was extubated. After completing antibiotic treatment, she was discharged and delivered a healthy baby after 42 weeks pregnancy. CONCLUSIONS: Sepsis in pregnancy is a rare and potentially fatal complication. The main treatment is based on Surviving Sepsis Campaign. The patient had an outstanding improvement and overcame her condition after intensive care support.


Subject(s)
Humans , Female , Pregnancy , Adult , Pyelonephritis , Sepsis
10.
Rev Bras Ter Intensiva ; 19(2): 242-4, 2007 Jun.
Article in Portuguese | MEDLINE | ID: mdl-25310788

ABSTRACT

BACKGROUND AND OBJECTIVES: Sepsis during pregnancy is a rare complication. This potentially fatal disease often occurs due to maternal infectious and can lead to fetal loss. Therefore, any attempted treatment must be aimed at the mother’s well being. As a matter of fact, there are few recent medical publications about sepsis in pregnancy. In spite of this, the treatment based on Surviving Sepsis Campaign seems suitable and practical. The aim of this article is making a case report highlighting a very well succeeded treatment of a pregnant woman with urinary sepsis. CASE REPORT: A 22 year old in her 27th week of pregnancy is hospitalized with pyelonefhritis. One day later, she begins presenting signs of sepsis and unresponsive hypoxemia, resulting in intubation. Afterwards, she evolved with persistent low blood pressure that was unresponsive to volume expansion and had to be put on vasopressor medication. She received intensive care support based on Surviving Sepsis Campaign. The patient evolved with an important improvement of her ventilatory stats and was extubated. After completing antibiotic treatment, she was discharged and delivered a healthy baby after 42 weeks pregnancy. CONCLUSIONS: Sepsis in pregnancy is a rare and potentially fatal complication. The main treatment is based on Surviving Sepsis Campaign. The patient had an outstanding improvement and overcame her condition after intensive care support.

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