Psychiatric profile and quality of life of subjects with excess weight treated with transcranial direct current stimulation combined with a hypocaloric diet.

Background: Transcranial direct current stimulation (tDCS) of the dorsolateral prefrontal cortex (DLPFC) may reduce appetite and caloric intake and may be able to play a role as an adjunct treatment for obesity. Stimulation of this brain area is also used for the treatment of depression, which shares a common pathophysiology with obesity. As a result, the effect of tDCS on mental health and its impact on the quality of life of subjects with excess weight needs to be addressed.Objective: To assess the effect of daily tDCS of the right DLPFC on mood, daytime sleepiness, anxiety and quality of life in subjects with excess weight on a hypocaloric diet.Methods: We randomly assigned 28 subjects to receive 20 sessions of active or sham tDCS over the right DLPFC for 20 consecutive weekdays. The severity of depressive and anxiety symptoms was assessed by the Beck Depression Inventory (BDI) and the State-Trait Anxiety Inventory-State (STAI-S). Sleepiness was measured by a daytime sleepiness questionnaire (DSQ), and quality of life was measured by the 36-Item Short Form Health Survey (SF-36).Results: There were no significant changes in BDI, STAI-S and DSQ scores between groups, even after adjustments for the use of antidepressant medications and changes in body weight. There were also no significant changes in different subscales of the SF-36 quality of life questionnaire between groups.Conclusion: Repetitive tDCS on the right DLPFC is not associated with impairment in mental health or quality of life in overweight and obese subjects.

The effect of transcranial direct current stimulation along with a hypocaloric diet on weight loss in excessive weight people: A pilot randomized clinical trial.

BACKGROUND & AIMS: The dorsolateral prefrontal cortex plays an important role in the desire to eat and food intake regulation and may be a target for transcranial direct current stimulation (tDCS) to promote weight loss. Our aim was to test the effect of repeated, active tDCS along with a hypocaloric diet (HD) on weight loss in overweight adults. METHODS: This was a randomized, placebo-controlled, double-blind pilot study conducted in Porto Alegre, Brazil. Twenty-eight overweight adults were selected to receive 4-week (20 sessions, t0 to t20; 5 weekdays) fixed-dose tDCS along with an HD. Subjects were randomly assigned to active (AG) or sham (SG) tDCS groups. The primary outcome was weight loss as determined via body weight measurements at baseline (t0), weekly (t5, t10, t15, and t20), and after the intervention (tF). A visual analogue scale was used to assess desire to eat at t0 and at tF. Registered under ClinicalTrials.gov Identifier no. NCT02683902. RESULTS: Although there was a greater weight loss in the AG (mean -4.5 kg [95%CI: -9.4, 0.5]) than in the SG (-2.3 kg [-5.0, 0.3]), this difference was not statistically significant. However, the AG showed a significant reduction in the desire for sweet foods (P = 0.005). CONCLUSIONS: Although this pilot study did not show that repeated tDCS is able to optimize weight loss, it was able to reduce the desire to eat sweet foods. These findings suggest that a protocol with a larger sample size could determine whether tDCS may be an adjunctive treatment of obesity.

Latin American and Caribbean consensus on noninvasive central nervous system neuromodulation for chronic pain management (LAC2-NIN-CP).

INTRODUCTION: Chronic pain (CP) is highly prevalent and generally undertreated health condition. Noninvasive brain stimulation may contribute to decrease pain intensity and influence other aspects related to CP. OBJECTIVE: To provide consensus-based recommendations for the use of noninvasive brain stimulation in clinical practice. METHODS: Systematic review of the literature searching for randomized clinical trials followed by consensus panel. Recommendations also involved a cost-estimation study. RESULTS: The systematic review wielded 24 transcranial direct current stimulation (tDCS) and 22 repetitive transcranial magnetic stimulation (rTMS) studies. The following recommendations were provided: (1) Level A for anodal tDCS over the primary motor cortex (M1) in fibromyalgia, and level B for peripheral neuropathic pain, abdominal pain, and migraine; bifrontal (F3/F4) tDCS and M1 high-definition (HD)-tDCS for fibromyalgia; Oz/Cz tDCS for migraine and for secondary benefits such as improvement in quality of life, decrease in anxiety, and increase in pressure pain threshold; (2) level A recommendation for high-frequency (HF) rTMS over M1 for fibromyalgia and neuropathic pain, and level B for myofascial or musculoskeletal pain, complex regional pain syndrome, and migraine; (3) level A recommendation against the use of anodal M1 tDCS for low back pain; and (4) level B recommendation against the use of HF rTMS over the left dorsolateral prefrontal cortex in the control of pain. CONCLUSION: Transcranial DCS and rTMS are recommended techniques to be used in the control of CP conditions, with low to moderate analgesic effects, and no severe adverse events. These recommendations are based on a systematic review of the literature and a consensus made by experts in the field. Readers should use it as part of the resources available to decision-making.

Effect of transcranial direct current stimulation associated with hypocaloric diet on weight loss and metabolic profile in overweight or obesity: study protocol for a double-blind, randomized controlled clinical trial.

BACKGROUND: Dietary interventions have limited success in promoting sustainable weight loss; new treatments allowing better compliance with hypocaloric diets should be developed. The aim of this trial is to describe the effects of a protocol combining repetitive active transcranial direct current stimulation (tDCS) with a hypocaloric diet on weight loss and food consumption in overweight or obese adults. METHODS/DESIGN: Overweight or obese adults between 20 and 50 years of age with stable weight over the last 4 months will be selected for a 4-week randomized clinical trial of fixed-dose tDCS (20 sessions; 5 consecutive weekdays/wk, 2 mA, 20 minutes) over the right dorsolateral prefrontal cortex associated with a weight loss diet. The subjects will be randomly assigned in a 1:1 ratio and stratified by sex to active tDCS + diet or sham tDCS + diet. The study will be conducted at the Endocrine and Metabolism Unit of the Hospital de Clínicas de Porto Alegre, Brazil. The primary outcome is weight loss. Energy and macronutrient consumption, as well as adherence to the diet, will be assessed using 3-day weighed dietary records. Changes in blood glucose and plasma insulin will be assessed, and participants will complete self-report questionnaires to assess changes in mood and food behavior. All analyses will be done on a per-protocol and intention-to-treat basis. DISCUSSION: This study explores the potential role of tDCS as an adjunctive treatment with a hypocaloric diet for obesity management. TRIAL REGISTRATION: ClinicalTrials.gov , NCT02683902 . Registered on 11 January 2016.

Definition and diagnosis of small fiber neuropathy: consensus from the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology.

The aim of this study was to describe the results of a Brazilian Consensus on Small Fiber Neuropathy (SFN). Fifteen neurologists (members of the Brazilian Academy of Neurology) reviewed a preliminary draft. Eleven panelists got together in the city of Fortaleza to discuss and finish the text for the manuscript submission. Small fiber neuropathy can be defined as a subtype of neuropathy characterized by selective involvement of unmyelinated or thinly myelinated sensory fibers. Its clinical picture includes both negative and positive manifestations: sensory (pain/dysesthesias/pruritus) or combined sensory and autonomic complaints, associated with an almost entirely normal neurological examination. Standard electromyography is normal. A growing list of medical conditions is associated with SFN. The classification of SFN may also serve as a useful terminology to uncover minor discrepancies in the normal values from different neurophysiology laboratories. Several techniques may disclose sensory and/or autonomic impairment. Further studies are necessary to refine these techniques and develop specific therapies.

Definition and diagnosis of small fiber neuropathy: consensus from the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology / Definição e diagnóstico de neuropatia de fibras finas: consenso do Departamento Científico de Neuropatias Periféricas da Academia Brasileira de Neurologia

ABSTRACT The aim of this study was to describe the results of a Brazilian Consensus on Small Fiber Neuropathy (SFN). Fifteen neurologists (members of the Brazilian Academy of Neurology) reviewed a preliminary draft. Eleven panelists got together in the city of Fortaleza to discuss and finish the text for the manuscript submission. Small fiber neuropathy can be defined as a subtype of neuropathy characterized by selective involvement of unmyelinated or thinly myelinated sensory fibers. Its clinical picture includes both negative and positive manifestations: sensory (pain/dysesthesias/pruritus) or combined sensory and autonomic complaints, associated with an almost entirely normal neurological examination. Standard electromyography is normal. A growing list of medical conditions is associated with SFN. The classification of SFN may also serve as a useful terminology to uncover minor discrepancies in the normal values from different neurophysiology laboratories. Several techniques may disclose sensory and/or autonomic impairment. Further studies are necessary to refine these techniques and develop specific therapies.

RESUMO O objetivo deste estudo é descrever os resultados de um Consenso Brasileiro sobre Neuropatia de Fibras Finas (NFF). Quinze neurologistas (membros da Academia Brasileira de Neurologia) revisaram uma versão preliminar do artigo. Onze panelistas se reuniram na cidade de Fortaleza para discutir e terminar o texto para a submissão do manuscrito. NFF pode ser definida como um subtipo de neuropatia caracterizada pelo envolvimento seletivo de fibras sensitivas amielínicas ou pouco mielinizadas. Seu quadro clínico inclui manifestações negativas e positivas: sensitivas (dor/disestesias/prurido) ou queixas sensitivas e autonômicas combinadas, associadas a exame neurológico quase totalmente normal. A eletromiografia convencional é normal. Uma lista crescente de condições médicas causa NFF. NFF também pode servir como uma terminologia útil para referenciar pequenas discrepâncias nos valores normais de diferentes laboratórios de neurofisiologia. Diferentes técnicas podem evidenciar anormalidades sensitivas e/ou autonômicas. São necessários mais estudos para refiná-las e para o desenvolvimento de terapias específicas.

Transcranial direct current stimulation effects on menopausal vasomotor symptoms.

OBJECTIVE: To assess the effects of transcranial direct current stimulation (tDCS) compared with tDCS-sham on vasomotor symptoms of postmenopausal women. METHODS: Postmenopausal women (N = 30), aged between 45 and 68 years, with at least four episodes of vasomotor symptoms per day, were recruited from a specialized outpatient clinic at a tertiary hospital in the south of Brazil and through a media call after inclusion and exclusion criteria were ensured. Active and tDCS-sham were administered over the motor cortex position (anode electrode) and contralateral supraorbital region (cathode electrode) for 10 consecutive days, except weekends. The number and intensity records of hot flashes were evaluated for 7 days before and along 30 days after the intervention. The Women's Health Questionnaire and the Hamilton Depression Rating Scale were applied to assess the quality of life and the depressive symptoms, respectively. RESULTS: The frequencies of hot flashes per day happened in a similar way in both groups, with a reduction in the first 3 weeks after the intervention. There was a return in hot flash frequencies to baseline in the fourth week (week 0: 79.0 ±â€Š6.2 and 75.8 ±â€Š6.0, week 1: 61.6 ±â€Š9.6 and 57.0 ±â€Š7.8, week 2: 56.8 ±â€Š8.9 and 55.9 ±â€Š7.1, week 3: 56.8 ±â€Š8.9 and 54.2 ±â€Š7.2, week 4: 64.9 ±â€Š10.7, 70.1 ±â€Š8.9; tDCS-sham and tDCS groups, respectively). In the tDCS group, a trend towards a conversion of intensive hot flashes into mild ones was observed. CONCLUSIONS: Our results suggest that the tDCS technique showed small trends on postmenopausal vasomotor symptoms, justifying searches for more effective methods by which tDCS could reduce hot flashes.

Notes on Human Trials of Transcranial Direct Current Stimulation between 1960 and 1998.

Background: Transcranial direct current stimulation (tDCS) is investigated to modulate neuronal function including cognitive neuroscience and neuropsychiatric therapies. While cases of human stimulation with rudimentary batteries date back more than 200 years, clinical trials with current controlled stimulation were published intermittently since the 1960s. The modern era of tDCS only started after 1998. Objectives: To review methods and outcomes of tDCS studies from old literature (between 1960 and 1998) with intention of providing new insight for ongoing tDCS trials and development of tDCS protocols especially for the purpose of treatment. Methods: Articles were identified through a search in PubMed and through the reference list from its selected articles. We included only non-invasive human studies that provided controlled direct current and were written in English, French, Spanish or Portuguese before the year of 1998, the date in which modern stimulation paradigms were implemented. Results: Fifteen articles met our criteria. The majority were small-randomized controlled clinical trials that enrolled a mean of approximately 26 subjects (Phase II studies). Most of the studies (around 83%) assessed the role of tDCS in the treatment of psychiatric conditions, in which the main outcomes were measured by means of behavioral scales and clinical observation, but the diagnostic precision and the quality of outcome monitoring, including adverse events, were deficient by modern standards. Compared to modern tDCS dose, the stimulation intensities used (0.1-1 mA) were lower, however as the electrodes were typically smaller (e.g., 1.26 cm2), the average electrode current density (0.2 mA/cm2) was approximately 4× higher. The number of sessions ranged from one to 120 (median 14). Notably, the stimulation session durations of several minutes to 11 h (median 4.5 h) could markedly exceed modern tDCS protocols. Twelve studies out of 15 showed positive results. Only mild side effects were reported, with headache and skin alterations the most common. Conclusion: Most of the studies identified were for psychiatric indications, especially in patients with depression and/or schizophrenia and majority indicated some positive results. Variability in outcome is noted across trials and within trials across subjects, but overall results were reported as encouraging, and consistent with modern efforts, given some responders and mild side effects. The significant difference with modern dose, low current with smaller electrode size and interestingly much longer stimulation duration may worth considering.

Positive effects of transcranial direct current stimulation in adult patients with attention-deficit/hyperactivity disorder - A pilot randomized controlled study.

Almost 30% of adult patients with attention-deficit/hyperactivity disorder (ADHD) do not respond or tolerate standard pharmacological interventions. Few clinical investigations addressed the efficacy and tolerability of transcranial direct current stimulation (tDCS), a non-invasive neuromodulatory technique, in the disorder. We performed a double-blind, sham-controlled randomized clinical trial in 17 patients with ADHD. The set up for tDCS was the following: 2mA/20min/day for 5 days with the anode over the right dorsolateral prefrontal cortex and cathode over the left dorsolateral prefrontal cortex. ADHD symptoms were measured by the Adult ADHD Self-Report Scale (ASRS) and impairment with the Sheehan Disability Scale (SDS) in four different time points after stimulation. Participants achieved significant lower ASRS inattention and SDS scores after active tDCS in comparison with sham stimulation group. In addition, we detected a trend for a lower ASRS total score in the active tDCS group. Follow up data analysis revealed a positive interaction between time and treatment in both ASRS inattention, SDS and ASRS total scores. Short-term application of tDCS in adult patients with ADHD improved their symptoms, and this improvement persisted after the end of the stimulation. Future studies with larger sample sizes are needed.

Simultaneous Median-Radial Nerve Electrical Stimulation Revisited: An Accurate Approach to Carpal Tunnel Syndrome Diagnosis and Severity.

PURPOSE: To assess the accuracy of an unusual test for CTS investigation and correlate it with clinical symptoms. METHODS: Initially, we applied a visual analog scale for CTS discomfort (CTS-VAS) and performed a standard electrophysiologic test for CTS diagnosis (median-ulnar velocity comparison). Posteriorly, a blinded neurophysiologist performed the orthodromic simultaneous median-radial nerve stimulation (SMRS) at the thumb, with recording of both action potentials over the lateral aspect of the wrist. RESULTS: All hands (106) showed median-radial action potential splitting using the SMRS technique, in which was possible to measure the interpeak latencies (IPLs) between action potentials. The IPL and median nerve conduction velocity were different according to CTS intensity (Bonferroni; P < 0.001). There was significant correlation between IPL and median nerve conduction velocity (Spearman; r = -0.51; P < 0.01). In the same way, there was a significant correlation between IPL and median nerve conduction velocity with CTS-VAS (r = 0.6 and r = -0.3, respectively). The duration and unpleasantness of the SMRS procedure were lower when compared with standard approach (t Student < 0.001 for both comparisons). Twenty-nine symptomatic patients (39 hands) who did not fulfill criteria for CTS based on standard approach showed abnormal IPLs. CONCLUSIONS: The SMRS technique is a simple, sensitive, and tolerable approach for CTS diagnosis. Apart from that, the data from SMRS correlated better with clinical impact of CTS in comparison with the standard approach. Therefore, this method might be useful as adjunct to standard electrophysiologic approaches in clinical practice.

Functional and regenerative effects of local administration of autologous mononuclear bone marrow cells combined with silicone conduit on transected femoral nerve of rabbits.

The inoculation of cells into injury sites can accelerate and improve the quality of nerve regeneration. This study aimed to evaluate the functional and regenerative effects of mononuclear autologous bone marrow cells (MABMC) combined with silicon conduit grafting in rabbit femoral nerves. Twenty-eight animals were allocated to one of two groups: treatment group (TG) or control group (CG), divided according to the time of evaluation, at either 50 or 75 days. After neurotmesis of the femoral nerve, surgical repair was performed with nerve autografts in silicon conduits, leaving a 5mm gap in both groups. The TG received MABMC in silicon conduits, and CG received a sham saline inoculum. Histological, clinical and electrophysiological analyses detected no differences between groups, but analysis of leg diameter showed that TG diameters were larger. This cell therapy did not improve regeneration of the femoral nerve, but there was a tendency for better functional recovery.

[Cannabinoids in neurology--Brazilian Academy of Neurology]. / Canabinoides e seu uso em neurologia--Academia Brasileira de Neurologia.

The use of cannabidiol in some neurological conditions was allowed by Conselho Regional de Medicina de São Paulo and by Agência Nacional de Vigilância Sanitária (ANVISA). Specialists on behalf of Academia Brasileira de Neurologia prepared a critical statement about use of cannabidiol and other cannabis derivatives in neurological diseases.

Progression rate of myelopathy in X-linked adrenoleukodystrophy heterozygotes.

X-linked adrenoleukodystrophy heterozygote women can present adult onset myeloneuropathy and little is known about its natural history. We aimed to describe the progression rate of the neurological impairment in the prospective follow-up of our cohort and to look for prognostic factors. The neurological scales Japanese Orthopaedic Association (JOA) and Severity Score System for Progressive Myelopathy (SSPROM) were applied at baseline in 29 symptomatic carriers and in follow-up visits. Age at onset, disease duration, X inactivation pattern, determination of the allele expressed, plasma levels of the very long chain fatty acids and of the neuron-specific enolase, and somato-sensory evoked potentials, were taken at baseline. The slope of the linear regression of both JOA and SSPROM versus disease duration since the first symptom was estimated using mixed modeling. JOA and SSPROM decreased 0.42 and 1.87 points per year, respectively (p < 0.001). None of the parameters under study influenced these rates. We estimated that the number of carriers per arm needed in a future 12 month trial with 80% power and a 50% reduction in disease progression would be 225 women for JOA and 750 for SSPROM. The progression rates of the studied neurological scales were small, did not depend on any modifier factor known, and reflected the characteristically slow worsening of symptoms in X-ALD heterozygotes. Better biomarkers are still necessary for future studies.

Cannabinoids in neurology – Brazilian Academy of Neurology / Canabinoides e seu uso em neurologia – Academia Brasileira de Neurologia

O uso do canabidiol em algumas condições neurológicas foi liberado pelo Conselho Regional de Medicina de São Paulo e pela Agência Nacional de Vigilância Sanitária (ANVISA). Especialistas em nome da Academia Brasileira de Neurologia prepararam uma posição crítica sobre o uso do canabidiol e outros derivados da cannabis em doenças neurológicas.

The use of cannabidiol in some neurological conditions was allowed by Conselho Regional de Medicina de São Paulo and by Agência Nacional de Vigilância Sanitária (ANVISA). Specialists on behalf of Academia Brasileira de Neurologia prepared a critical statement about use of cannabidiol and other cannabis derivatives in neurological diseases.

Promising treatments for neuropathic pain.

In the last few years the understanding of mechanisms and, consequently, the diagnosis of neuropathic pain (NP) has becoming progressively clearer in clinical practice. However, the treatment of such condition remains challenging so far. One of the reasons for such difficulty is the diversity of mechanisms involved in NP generation and its persistency. In the present review we discuss several treatment modalities for NP that are scantily applied in daily clinical practice. For that, we collected positive clinical evidence of unusual and SECS (Safe, Easy, Cheap, and Sensible) approaches for NP. The aim of this review is not to establish the "state of the art" or rigid guidelines for NP treatment. In a different way, we only want bring new possibilities of treatment to the readers and also to motivate investigators to confirm those positive preliminary but promising results for NP reliev.

Promising treatments for neuropathic pain / Tratamentos promissores para dor neuropática

In the last few years the understanding of mechanisms and, consequently, the diagnosis of neuropathic pain (NP) has becoming progressively clearer in clinical practice. However, the treatment of such condition remains challenging so far. One of the reasons for such difficulty is the diversity of mechanisms involved in NP generation and its persistency. In the present review we discuss several treatment modalities for NP that are scantily applied in daily clinical practice. For that, we collected positive clinical evidence of unusual and SECS (Safe, Easy, Cheap, and Sensible) approaches for NP. The aim of this review is not to establish the “state of the art” or rigid guidelines for NP treatment. In a different way, we only want bring new possibilities of treatment to the readers and also to motivate investigators to confirm those positive preliminary but promising results for NP reliev.

Nos últimos anos, a compreensão dos mecanismos e consequentemente do diagnóstico da dor neuropática (DN) têm se tornado cada vez mais claros na prática clínica. Entretanto, o tratamento desta condição continua sendo um desafio. Uma das razões para tal dificuldade é diversidade de mecanismos envolvidos na geração e perpetuação da DN. Na presente revisão, os autores discutem várias modalidades de tratamento para DN pouco utilizadas na prática clínica diária. Para isso, selecionamos evidências clínicas positivas de abordagens para DN consideradas não-convencionais e do tipo “SFBR” (Seguro, Fácil, Barato e Racional). O objetivo desta revisão não é estabelecer o “estado da arte” ou diretrizes rígidas para o tratamento da DN. Diferente disso, pretendemos apenas trazer aos leitores novas possibilidades de tratamento assim como motivar pesquisadores a confirmar estes resultados preliminares, mas promissores para o alívio da DN.

Oppositionality and sympathetic skin response in adolescents: specific associations with the headstrong/hurtful dimension.

Oppositionality encompasses distinct dimensions, and few studies have investigated the validity of such distinctions from a pathophysiological perspective. Our aim was to investigate the association between sympathetic skin responses (SSR) and distinct oppositional dimensions in a community sample of adolescents. Forty adolescents aged 13.84±1.46 years participated in this study. Oppositionality was measured by externalizing behavior and bullying scores (dependent variables), while SSR was recorded by electrical changes at the skin level (independent variables). Results showed that increased SSRs were associated with oppositionality; however, these associations were specific to the headstrong/hurtful dimension. Further exploratory analyses demonstrated that increased SSRs were associated with several types of headstrong/hurtful behaviors and underscore the importance of the first aversive stimuli to differentiate groups with low and high headstrong/hurtful behaviors. There were no differences between groups regarding time until habituation. This study provides insights about how dysfunctions in autonomic balance may contribute to the emergence of oppositional behavior among adolescents.

Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.

BACKGROUND: Neurologic impairments in female heterozygotes for X-linked Adrenoleukodystrophy (X-ALD) are poorly understood. Our aims were to describe the neurological and neurophysiological manifestations of a cohort of X-ALD heterozygotes, and to correlate them with age, disease duration, mutations, X-inactivation and serum concentrations of a marker of neuronal damage, neuron-specific enolase (NSE). METHODS: All 45 heterozygotes identified in our region, with previous VLCFA and molecular diagnosis, were invited to be evaluated through myelopathy scales JOA and SSPROM, nerve conduction studies and somatosensory evoked responses. X inactivation pattern was tested by HUMARA methylation assay. Serum NSE was measured by eletrochemiluminescense. RESULTS: Thirty three heterozygote women were recruited: 29 (87%) were symptomatic. Symptomatic and asymptomatic women presented different m ± sd ages (43.9 ± 10.2 versus 24.3 ± 4.6), JOA (14.5 ± 1.7 versus 16.6 ± 0.2) and SSPROM (86.6 ± 7.9 versus 98.4 ± 1.1) scores (p<0.05). Both JOA (r=-0.68) and SSPROM (r=-0.65) correlated with age, irrespectively of the disease status (p=0.0001, Spearman). Delayed latencies in the central ascending conduction studies on the lower limbs were present in 72% of all heterozygotes, and correlated with SSPROM (r=-0.47, p=0.018, Spearman). NSE values were higher in heterozygote than in control women (12.9 ± 7 and 7.2 ± 7 ng/ml, p=0.012, Mann-Whitney U). Mutation severity and inactivation patterns were not associated with neurologic status. CONCLUSION: Neurologic manifestations, clearly related to age, were quite common in the present cohort. JOA and SSPROM scales were able to discriminate the asymptomatic from the symptomatic heterozygotes. Both scales might be useful tools to follow disease progression, in future studies.

Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type III.

UNLABELLED: Gaucher disease type III (GD III) is a rare form of GD characterized by neurological involvement and severe systemic disease. The objective of this study was to assess the nutritional status and energy metabolism of patients with GD III. METHODS: The basal metabolic rate (BMR, measured by indirect calorimetry) and anthropometric parameters (height, weight, body mass index (BMI), and arm circumference) of three patients with GD III (p.L444P/L444P genotype) were assessed at different time points. The clinical severity of GD was assessed by means of physical examination, laboratory tests, imaging findings, and the severity scores proposed by Zimran (SSI) and Davies (SSNI). RESULTS: The measured BMR of patients 1 (age 14 years, not on enzyme replacement therapy (ERT), SSI score 33, SSNI score 14.5), 2 (age 17 years, on ERT, SSI score 33, SSNI score 16), and 3 (age 20 years, on ERT, SSI score 33, SSNI score 7.5) was, respectively, 47%, 72%, and 15% higher than that estimated by the Harris-Benedict equation. Patients with a more severe phenotype had more marked hypermetabolism. Patients 1 and 2 had BMI-for-age z scores of -1.09 and -1.39, respectively, and height-for-age z scores of -4.27 and -3.02, respectively; patient 3 had a BMI of 24.7 kg/m(2). CONCLUSION: All three patients showed hypermetabolism; however, the two patients with the highest BMR had more severe GD and were malnourished. Additional studies are warranted to assess whether hypermetabolism may be a biomarker of disease severity in GD.