Rapid Access From Primary Care to a Multidisciplinary Clinic at Tertiary Care Improves Clinical Outcomes for Patients With Diabetic Foot Ulcers: Results From Diabetic Foot in Primary and Tertiary (DEFINITE) Care's Lower Extremity Amputation Prevention Program (LEAPP) Clinic.

Diabetic Foot in Primary and Tertiary (DEFINITE) Care is an inter-institutional, multidisciplinary team (MDT) program for patients with diabetic foot ulcers (DFU) within a healthcare cluster in Singapore. This is one of our subgroup analyses within DEFINITE Care, assessing clinical outcomes of lower extremity amputation prevention program (LEAPP), a multidisciplinary diabetic foot clinic, and non-LEAPP patients within the program. From June 2020 to June 2022, 2798 patients within the DEFINITE cohort completed a minimum of 12-month follow up. Of these patients, 20.6% were managed by LEAPP, whereas 79.4% were non-LEAPP patients. Patients in the LEAPP cohort were older with co-existing metabolic conditions and complications of diabetes. Using non-LEAPP cohort as the reference group and after adjusting for age, gender, ethnicity, comorbidities, and medications, there was a significantly lower risk of death (odds ratio [OR] 0.60, P = .001) and composite major lower extremity amputation (LEA) or death (OR 0.66, P = .002) among LEAPP patients at 1 year with longer mean days from enrollment to minor LEA, major LEA, and death. The adjusted 1-year healthcare utilization outcomes for LEAPP patients demonstrated an increase in inpatient admissions, primary care polyclinic visits, hospital specialist outpatient clinic (SOC) visits and elective day surgery procedures. Despite the increased in inpatients admissions, cumulative hospital length of stay in LEAPP patients were lower. This subgroup analysis has demonstrated that the MDT approach to caring for patients with DFU in tertiary centers not only improves mortality by 40%, but also delayed the incidence of minor LEA, major LEA, and death.

Risk factors and clinical profile of autism spectrum disorder in southern Brazil.

In Brazil, as in other countries, it is expected a significant variation of epidemiological and clinical characteristics among individuals with autism spectrum disorder (ASD). This study was performed to explore maternal risk factors and clinical characteristics of children with ASD in a population located in southern Brazil. Data were collected from medical records and analyzed to explore biomarkers associated with ASD. Out of 321 children with ASD, 86.5% were males with a male-to-female ratio of 5.7:1, 50.7% were mild/moderate while 49.3% presented severe ASD. Between the risk factors investigated, gestational infection was significantly associated with severe ASD patients. There was also an association between epilepsy and severe autism. Several gastrointestinal (GI) symptoms were significantly associated with severe ASD. Obesity, followed by lower levels of cholesterol, were also significant factors associated with an ASD diagnosis when compared to age-matched controls. Finally, severe ASD was associated with significantly higher serum serotonin levels when compared to age-matched controls and mild/moderate ASD cases. Our findings demonstrate that our population shares many features associated with ASD around the world, such as GI symptoms, epilepsy, and high serotonin levels. It is worth highlighting the low cholesterol levels associated with obesity as an unusual feature that deserves more attention.

Revascularisation Options for Chronic Limb Threatening Ischaemia in Diabetes: Implications From Two Recent Trials.

Chronic limb-threatening ischaemia (CLTI) is a severe form of peripheral arterial disease (PAD) and is associated with an increased risk of amputation, mortality, and significantly impaired quality of life. International guidelines recommend considering timely revascularisation and optimal medical therapy to improve limb perfusion in individuals with CLTI. The 2 primary revascularization approaches for CLTI are open bypass surgery (BS) and endovascular therapy (EV), however, there is currently no consensus on the best initial treatment strategy for CLTI, leading to uncertainty among clinicians. To shed light on this issue, 2 recent trials, namely best endovascular versus best surgical therapy in patients with CLI (BEST-CLI) and bypass versus angioplasty for severe ischaemia of the leg (BASIL-2), have tried to provide valuable insights. While a definitive conclusion on the optimal revascularisation approach is still pending, these trials offer immediate and clinically relevant information to the diabetic foot multidisciplinary team. The trials encompassed a distinct range of patient cohorts and included participants with varying degrees of medical and physical frailty. Taken together, their findings, highlight the need for an individualised revascularisation strategy which accounts for underlying comorbidities, risk factors, disease severity, availability of suitable bypass conduits, surgical risks, and timely access to procedures. Regardless of the chosen strategy, early referral of patients with diabetes and CLTI to a specialist team within a multidisciplinary environment is crucial. Comprehensive care should encompass essential elements such as adequate debridement, infection control, offloading, glycaemic control, smoking cessation, and patient education. By addressing these aspects, healthcare providers can optimise the management and outcomes for individuals with CLTI and diabetes.

Cholesterol metabolism pathway in autism spectrum disorder: From animal models to clinical observations.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by a persistent impairment of social skills, including aspects of perception, interpretation, and response, combined with restricted and repetitive behavior. ASD is a complex and multifactorial condition, and its etiology could be attributed to genetic and environmental factors. Despite numerous clinical and experimental studies, no etiological factor, biomarker, and specific model of transmission have been consistently associated with ASD. However, an imbalance in cholesterol levels has been observed in many patients, more specifically, a condition of hypocholesterolemia, which seems to be shared between ASD and ASD-related genetic syndromes such as fragile X syndrome (FXS), Rett syndrome (RS), and Smith- Lemli-Opitz (SLO). Furthermore, it is known that alterations in cholesterol levels lead to neuroinflammation, oxidative stress, impaired myelination and synaptogenesis. Thus, the aim of this review is to discuss the cholesterol metabolic pathways in the ASD context, as well as in genetic syndromes related to ASD, through clinical observations and animal models. In fact, SLO, FXS, and RS patients display early behavioral markers of ASD followed by cholesterol disturbances. Several studies have demonstrated the role of cholesterol in psychiatric conditions and how its levels modulate brain neurodevelopment. This review suggests an important relationship between ASD pathology and cholesterol metabolism impairment; thus, some strategies could be raised - at clinical and pre-clinical levels - to explore whether cholesterol metabolism disturbance has a generally adverse effect in exacerbating the symptoms of ASD patients.

Diabetic foot in primary and tertiary (DEFINITE) Care: A health services innovation in coordination of diabetic foot ulcer (DFU) Care within a healthcare cluster - 18-month results from an observational population health cohort study.

Diabetic Foot in Primary and Tertiary (DEFINITE) Care is an inter-institutional and multi-disciplinary team (MDT) health systems innovation programme at a healthcare cluster in Singapore. We aim to achieve coordinated MDT care across primary and tertiary care for patients with diabetic foot ulcers (DFU), within our public healthcare cluster - an integrated network of seven primary care polyclinics and two acute care tertiary hospitals (1700-bed and 800-bed) with a total catchment population of 2.2 million residents. Results from prospective DEFINITE Care is referenced against a retrospective 2013-2017 cohort, which was previously published. Cardiovascular profile of the study population is compared against the same population's profile in the preceding 12 months. Between June 2020 and December 2021, there were 3475 unique patients with DFU with mean age at 65.9 years, 61.2% male, mean baseline HbA1c at 8.3% with mean diabetes duration at 13.3 years, mean diabetes complication severity index (DCSI) at 5.6 and mean Charlson Comorbidity Index (CCI) at 6.8. In the 12-months preceding enrolment to DEFINITE Care, 35.5% had surgical foot debridement, 21.2% had minor lower extremity amputation (LEA), 7.5% had major LEA whilst 16.8% had revascularisation procedures. At 18-months after the implementation of DEFINITE Care programme, the absolute minor and major amputation rates were 8.7% (n = 302) and 5.1% (n = 176), respectively, equating to a minor and major LEA per 100000 population at 13.7 and 8.0, respectively. This represents an 80% reduction in minor amputation rates (P < .001) and a 35% reduction in major amputation rates (P = .005) when referenced against a retrospective 2013-2017 cohort, which had minor and major LEA per 100000 population at 68.9 and 12.4, respectively. As compared to the preceding 12 months, there was also a significant improvement in cardiovascular profile (glycemic and lipid control) within the DEFINITE population, with improved mean HbAc1 (7.9% from 8.4%, P < .001), low-density lipoprotein (LDL) levels (2.1 mmol/L from 2.2, P < .001), total cholesterol (3.9 mmol/L from 4.1, P < .001) and triglycerides levels (1.6 mmol/L from 1.8, P = .002). Multivariate analysis revealed a history of minor amputation in the preceding 12 months to be an independent predictor for major and minor amputation within the study period of 18 months (Hazard Ratio 3.4 and 1.8, respectively, P < .001). In conclusion, within DEFINITE care, 18-month data showed a significant reduction of minor and major LEA rates, with improved medical optimisation and cardiovascular profile within the study population.

Clinical and economic outcomes of a multidisciplinary team approach in a lower extremity amputation prevention programme for diabetic foot ulcer care in an Asian population: A case-control study.

Present guidelines recommend a multidisciplinary team (MDT) approach to diabetic foot ulcer (DFU) care, but relevant data from Asia are lacking. We aim to evaluate the clinical and economic outcomes of an MDT approach in a lower extremity amputation prevention programme (LEAPP) for DFU care in an Asian population. We performed a case-control study of 84 patients with DFU between January 2017 and October 2017 (retrospective control) vs 117 patients with DFU between December 2017 and July 2018 (prospective LEAPP cohort). Comparing the clinical outcomes between the retrospective cohort and the LEAPP cohort, there was a significant decrease in mean time from referral to index clinic visit (38.6 vs 9.5 days, P < .001), increase in outpatient podiatry follow-up (33% vs 76%, P < .001), decrease in 1-year minor amputation rate (14% vs 3%, P = .007), and decrease in 1-year major amputation rate (9% vs 3%, P = .05). Simulation of cost avoidance demonstrated an annualised cost avoidance of USD $1.86m (SGD $2.5m) for patients within the LEAPP cohort. In conclusion, similar to the data from Western societies, an MDT approach in an Asian population, via a LEAPP for patients with DFU, demonstrated a significant reduction in minor and major amputation rates, with annualised cost avoidance of USD $1.86m.

Sex-related patterns of the gut-microbiota-brain axis in the neuropsychiatric conditions.

Sex differences are often observed in psychiatric patients, especially major depressive disorders (MDD), schizophrenia, and developmental disorders, including autism spectrum disorders (ASDs). The prevalence rates between males and females seem variate according to the clinical condition. Although the findings are still incipient, it is suggested that these differences can involve neuroanatomical, neurochemical, and physiological sex differences. In this context, the microbiota-gut-brain axis hypothesis arises to explain some aspects of the complex pathophysiology of neuropsychiatric disorders. The microbiota composition is host-specific and can change conforming to age, sex, diet, medication, exercise, and others. The communication between the brain and the gut is bidirectional and may impact the entire system homeostasis. Many pathways appear to be involved, including neuroanatomic communication, neuroendocrine pathways, immune system, bacteria-derived metabolites, hormones, neurotransmitters, and neurotrophic factors. Although the clinical and preclinical studies are sparse and not very consistent, they suggest that sex differences in the gut microbiota may play an essential role in some neuropsychiatric conditions. Thus, this narrative review has as a mainly aim to show the points sex-related patterns associated to the gut-microbiota-brain axis in the MDD, ASDs, and schizophrenia.

Diabetes predicts severity of COVID-19 infection in a retrospective cohort: A mediatory role of the inflammatory biomarker C-reactive protein.

Diabetes is a risk factor for developing severe COVID-19, but the pathogenesis remains unclear. We investigated if the association of diabetes and COVID-19 severity may be mediated by inflammation. We also hypothesized that this increased risk may extend to prediabetes. Hospitalized patients in Singapore with COVID-19 were subdivided into three groups in a retrospective cohort: normoglycemia (HbA1c: ≤5.6%), prediabetes (HbA1c: 5.7%-6.4%) and diabetes (HbA1c: ≥6.5%). The primary outcome of severe COVID-19 was defined by respiratory rate ≥30, SpO2 ≤93% or intensive care unit admission. The association between clinical factors on severe COVID-19 outcome was analyzed by cox regression. Adjusted mediation analysis of C-reactive protein (CRP) on the relationship between diabetes and severe COVID-19 was performed. Of 1042 hospitalized patients, mean age 39 ± 11 years, 13% had diabetes, 9% prediabetes and 78% normoglycemia. Severe COVID-19 occurred in 4.9% of subjects. Compared to normoglycemia, diabetes was significantly associated with severe COVID-19 on both univariate (hazard ratio [HR]: 9.94; 95% confidence interval [CI]: 5.54-17.84; p < .001) and multivariate analysis (HR: 3.99; 95% CI: 1.92-8.31; p < .001), while prediabetes was not a risk factor (HR: 0.94; 95% CI: 0.22-4.03; p = .929). CRP, a biomarker of inflammation, mediated 32.7% of the total association between diabetes and severe COVID-19 outcome. In conclusion, CRP is a partial mediator of the association between diabetes and severe COVID-19 infection, confirming that inflammation is important in the pathogenesis of severe COVID-19 in diabetes.

Obesity is Associated with Poor Covid-19 Outcomes: A Systematic Review and Meta-Analysis.

Our aim was to assess the association between obesity and the risk of unfavourable outcomes (composite of severe disease and mortality) in inpatients with COVID-19. We conducted a systematic search of databases between December 2019 and 28th June 2020. Studies were included if they reported or allowed estimation of an odds ratio (OR) for unfavourable outcome in obese compared to non-obese patients hospitalised for COVID-19. Twenty cohort studies of 28 355 hospitalised patients with COVID-19 infection were included. Meta-analysis estimated a pooled OR of 2.02 (1.41-2.89, p<0.001) for an unfavourable outcome in obese versus non-obese patients when adjusted for age, sex and co-morbidities. When unadjusted for confounders, the OR for unfavourable outcomes was 1.25 (CI 1.07-1.45, p=0.005). An increased adjusted OR was also seen for death (OR 1.51; CI 1.13-2.21, p=0.006) and severe illness (OR 2.26; CI 1.47-3.48, p<0.001). Compared to a normal BMI, the risk of an unfavourable outcome was increased even in overweight patients, with severe obesity having an escalated risk.Obesity is independently associated with an unfavourable outcome of COVID-19 illness, with obese patients having twice the risk of a composite outcome of severe disease or mortality, and a 50% increased risk of death.

Are Adequate Vitamin D Levels Helpful in Fighting COVID-19? A Look at the Evidence.

COVID-19 is a global pandemic with high mortality in vulnerable groups. Given the current lack of definitive treatment or vaccine that significantly reduces mortality rate, governments, researchers and healthcare providers are racing to find possible solutions to the crisis. Vitamin D and its analogues have been previously studied for their non-skeletal benefits. In particular, questions regarding their role in the modulation of immunity have re-surfaced, in view of possible epidemiological links observed between COVID-19 and vitamin D levels in selected populations. In this review, we highlight potential mechanisms and summarise the evidence for and against the potential role of vitamin D supplementation in our fight against COVID-19.

Exposure to a high dose of amoxicillin causes behavioral changes and oxidative stress in young zebrafish.

Autistic spectrum disorder (ASD) is a group of early-onset neurodevelopmental disorders characterized by impaired social and communication skills. Autism is widely described as a behavioral syndrome with multiple etiologies where may exhibit neurobiological, genetic, and psychological deficits. Studies have indicated that long term use of antibiotics can alter the intestinal flora followed by neuroendocrine changes, leading to behavioral changes. Indeed, previous studies demonstrate that a high dose of amoxicillin can change behavioral parameters in murine animal models. The objective was to evaluate behavioral and oxidative stress parameters in zebrafish exposed to a high dose of amoxicillin for 7 days. Young zebrafish were exposed to a daily concentration of amoxicillin (100 mg/L) for 7 days. Subsequently, the behavioral analysis was performed, and the brain content was dissected for the evaluation of oxidative stress parameters. Zebrafish exposed to a high dose of amoxicillin showed locomotor alteration and decreased social interaction behavior. In addition, besides the significant decrease of sulfhydryl content, there was a marked decrease in catalase activity, as well as an increased superoxide dismutase activity in brain tissue. Thus, through the zebrafish model was possible to note a central effect related to the exposition of amoxicillin, the same as observed in murine models. Further, the present data reinforce the relation of the gut-brain-axis and the use of zebrafish as a useful tool to investigate new therapies for autistic traits.

Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder.

Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the literature, and, to our knowledge, only four of them in the 12q24.31-q24.33 region. We report a further case of interstitial deletion of bands 12q24.31-q24.33 associated with autism spectrum disorder. A 2-year-old boy with global developmental delay associated with multiple congenital anomalies. The Human Genome CGH Microarray 60K confirmed the diagnosis of 12q deletion syndrome. This study made a review of the current literature comparing our patient with previously reported cases. These detailed analyses contribute to the development of genotype/phenotype correlations for 12q deletions that will aid in better diagnosis and prognosis of this deletion.

Attention Deficit Disorder with Hyperactivity Symptoms in Early-Treated Phenylketonuria Patients.

SECTION TITLE: Objectives To assess the presence of symptoms consistent with Attention Deficit Disorder with Hyperactivity (ADHD) in all patients with early-treated phenylketonuria (PKU) in the State of Santa Catarina in southern Brazil. MATERIALS & METHODS: All of the patients diagnosed with PKU by newborn-screening tests, with ages varying from 6 to 18 years and who started treatment before 60 days of life and presented phenylalanine levels consistently below 6 mg/dL throughout treatment, were included. The subjects were invited to complete a questionnaire that collected sociodemographic, gestational and clinical data. ADHD symptoms were assessed using the revision of the Swanson, Nolan and Pelham Questionnaire. RESULTS: A total of 34 patients were evaluated, who were 53% male and 94% white and had an average age of 12 years, and 15% were born premature. According to the Swanson, Nolan and Pelham Questionnaire, 13 patients (38%) met the diagnostic criteria for ADHD, with 2 patients having the inattentive type, 6 patients having the hyperactive or impulsive type and 1 patient having the oppositional defiant disorder type. CONCLUSION: Although the patients with PKU were regularly treated from birth, there was a high prevalence of symptoms consistent with ADHD. A pathophysiological interface that involves the dopamine metabolic pathway may exist between the two conditions.

Autism associated with 12q (12q24. 31-q24. 33) deletion: further report of an exceedingly rare disorder / Autismo associado à síndrome de deleção do cromossomo 12q24. 31-q24. 33: relato adicional de um distúrbio extremamente raro

ABSTRACT Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the literature, and, to our knowledge, only four of them in the 12q24.31-q24.33 region. We report a further case of interstitial deletion of bands 12q24.31-q24.33 associated with autism spectrum disorder. A 2-year-old boy with global developmental delay associated with multiple congenital anomalies. The Human Genome CGH Microarray 60K confirmed the diagnosis of 12q deletion syndrome. This study made a review of the current literature comparing our patient with previously reported cases. These detailed analyses contribute to the development of genotype/phenotype correlations for 12q deletions that will aid in better diagnosis and prognosis of this deletion.

RESUMO Anomalias cromossômicas são responsáveis por inúmeras malformações congênitas no mundo, algumas delas associadas a deleções teloméricas/subteloméricas. As anomalias que envolvem o telômero do cromossomo 12 são raras, com poucos relatos na literatura sobre deleções relacionados à região 12q24.31 e, até onde sabemos, apenas quatro deles na região 12q24.31-q24.33. Relatamos um outro caso de deleção intersticial das bandas 12q24.31-q24.33 associada ao transtorno do espectro do autismo. Trata-se de um menino de 2 anos de idade com atraso global no desenvolvimento associado a múltiplas anomalias congênitas. A utilização do Human Genome CGH Microarray 60K confirmou o diagnóstico da síndrome de deleção 12q. Este estudo fez uma revisão da literatura atual, comparando nosso paciente com casos previamente relatados. Estas análises detalhadas contribuem para o desenvolvimento de correlações genótipo/fenótipo para deleções 12q, que ajudam aos melhores diagnóstico e prognóstico desta deleção.

Atitudes alimentares e autopercepção da imagem corporal em bailarinas do município de Tubarão - Santa Catarina / Eating attitudes and self-perception of body image in dancers of a city in the South of Brasil

Introdução: A pressão social para manutenção de determinados padrões corporais é maior entre mulheres, jovens, praticantes de esportes, atividades artísticas e algumas atividades profissionais. As bailarinas podem ser consideradas um grupo de risco para o desenvolvimento de distúrbios alimentares como anorexia ou bulimia nervosa. O objetivo deste estudo foi avaliar a percepção da imagem corporal em bailarinas da cidade de Tubarão (SC) e sua associação com comportamentos de risco para transtorno alimentar. Métodos: Foi realizada entrevista com 29 bailarinas do sexo feminino, entre 15 e 25 anos, que frequentavam aulas de dança regularmente há pelo menos seis meses nas três instituições de dança de Tubarão-SC. A avaliação da autopercepção de imagem corporal foi realizada pelo Questionário Body Shape Questionnaire (BSQ) e das atitudes alimentares pelo Teste de Atitudes Alimentares (EAT-26). Resultados: O resultado da aplicação do EAT-26 indicou que 10,34% das bailarinas entrevistadas se enquadraram em padrões de não normalidade. Já na aplicação do BSQ, quase 38% das bailarinas apresentaram distúrbios da autopercepção de imagem corporal, sendo que 24,14% foram classificadas com distúrbio leve; 3,45% com moderado e 10,34% com grave. Conclusões: Mesmo com a pequena amostra observada, pode-se perceber que bailarinas são expostas constantemente ao culto à magreza e à pressão social por se enquadrarem neste padrão estético. A informação às jovens, pais e professores de dança sobre os sintomas de alerta, fatores de risco e consequências sociais desses transtornos e distúrbios pode contribuir para reduzir o impacto na saúde física e mental desse grupo social.

Introduction: The social pressure to maintain certain physical standards is higher among women, young people, practitioners of sports, artistic activities and some professional activities. Ballerinas can be considered a risk group for developing eating disorders such as anorexia or bulimia nervosa. The aim of this study was to evaluate the perception of body image in female dancers from the city of Tubarão (SC) and its association with risk behaviors for eating disorder. Methods: interview with 29 female dancers, aged between 15 and 25 years, who frequented ballet classes regularly at least six months in three institutions of Ballet at Tubarão - SC. The assessment of self-perception about body image was performed by Body Shape Questionnaire (BSQ) and eating attitudes by the Eating Attitudes Test (EAT-26). Results: The result of the EAT-26 indicated that 10.34% of the dancers interviewed was with patterns of non-normality. Already in the application of BSQ, almost 38% of the dancers showed disorders of self-perception of body image, and 24.14% were classified as mild disorder; 3.45% and 10.34% with moderate and severe disorders. Conclusions: Even with the small observed sample, we can realize that dancers are constantly exposed to the cult of thinness and social pressure to fit this aesthetic standard. The information to young people, parents and dance teachers about the warning symptoms, risk factors and social consequences of these disorders and disturbances can contribute to reducing the impact on physical and mental health of this social group.

Neurolinfomatose de nervos cranianos e plexos braquial e lombossacro em um paciente com linfoma não Hodgkin: relato de caso / Neurolymphomatosis of cranial nerves and brachial and lumbosacral plexuses in a patient with non-Hodgkin lymphoma: a case report

Neurolinfomatose (NL) corresponde à infiltração do sistema nervoso periférico por células neoplásicas, sendo a manifestação neurológica menos comum dos linfomas, principalmente do Linfoma Não Hodgkin (LNH). A infiltração pode ocorrer em diversos níveis, como junções neuromusculares, nervos periféricos ou raízes nervosas, sendo que a maioria dos pacientes possui múltiplos sítios envolvidos, incluindo raízes nervosas espinhais, nervos cranianos e plexos nervosos. Neste relato, descrevemos um caso de LNH, em paciente HIV positivo, com NL em nervos cranianos e plexos braquial e lombossacro bilaterais, com sintomas de paresia e parestesia de membros inferiores e membro superior esquerdo, ptose, midríase e estrabismo divergente em globo ocular direito, arreflexia em membros inferiores e marcha atáxica. Nos exames de imagens, foram observadas alterações compatíveis com espessamento de raízes nervosas da cauda equina, bem como hiperssinal no III par craniano à direita e espessamento do V par craniano à direita. A partir da análise do líquido cefalorraquidiano e da exclusão de outras hipóteses diagnósticas, houve forte suspeita de NL. O paciente apresentou melhora parcial do quadro após corticoterapia, sendo encaminhado para tratamento oncológico. A possibilidade de infiltração linfomatosa em pacientes com quadro de mono ou polineuropatia deve ser sempre lembrada nos pacientes com LNH, podendo ser a primeira ou a única manifestação clínica da enfermidade. Um diagnóstico precoce é fundamental para a melhora do prognóstico (AU)

Neurolymphomatosis (NL) corresponds to the infiltration of the peripheral nervous system by neoplastic cells, being the less common neurological manifestation of lymphomas, mainly Non-Hodgkin's Lymphoma (NHL). Infiltration can occur at several levels, such as neuromuscular junctions, peripheral nerves or nerve roots, with most patients having multiple sites involved, including spinal nerve roots, cranial nerves, and nerve plexuses. In this report we describe a case of NHL in an HIV positive patient with NL in cranial nerves and bilateral brachial and lumbosacral plexuses, with symptoms of paresis and paresthesia of the lower limbs and left upper limb, ptosis, mydriasis and divergent strabismus in the right eyeball, areflexia in lower limbs and ataxic gait. In the imaging studies, alterations consistent with thickening of the nerve roots of the cauda equina were observed, as well as hypersignal in the right cranial nerve III and thickening of the right V cranial nerve. From an analysis of the cerebrospinal fluid and the exclusion of other diagnostic hypotheses, there was a strong suspicion of NL. The patient presented partial improvement after corticotherapy and was subsequently referred for cancer treatment. The possibility of lymphomatous infiltration in patients with mono or polyneuropathy should always be remembered in patients with NHL, which may be the first or only clinical manifestation of the disease. Early diagnosis is crucial for improving the prognosis (AU)

Caracterização dos pacientes com traumatismo cranioencefálico grave admitidos em um hospital terciário / Characteristics of patients with severe traumatic brain injury admitted in a tertiary hospital

Descrever o perfil epidemiológico de pacientes vítimas de traumatismo cranioencefálico grave. Estudo restropectivo realizado através da análise de prontuários de pacientes admitidos em um hospital de referência com diagnóstico de traumatismo craniencefálico grave (TCE), entre janeiro de 2007 e junho de 2013. Na amostra obtida com total de 246 pacientes, 216 (87,8%) eram do sexo masculino. A faixa etária predominante foi a de adultos jovens. A causa mais comum de TCE grave foi acidente com motocicleta. Os principais sinais clínicos apresentados nas primeiras 72 horas após admissão hospitalar foram edema periorbital, anisocoria e otorragia. A tomografia computadorizada de crânio (TC) foi o exame mais realizado. Adultos jovens foram os mais atingidos, sendo o acidente motociclístico a principal causa de TCE grave, com predomínio de ocorrência do gênero masculino.

To describe the epidemiological profile of patients suffering from severe traumatic brain injury. This restropective study was conducted through analysis of patients' medical records admitted to a referral hospital with the diagnosis of severe TBI between January 2007 and June 2013. In the sample obtained from a total of 246 patients, 216 (87.8% ) were male. The predominat age group was young adults. The most common cause of serious injury was motorcycle accident. The main clinical signs presented in the first 72 hours after hospital admissions were periorbital edema, anisocoria and otorrhagia. Computer tomography (CT) examination was the most performed exam. Young adults were the most affected, where the motorcycle accidents were the leading cause of severe TBI, with a predominance of occurrence in the male gender.

Aspectos sociodemográficos, clínicos e familiares de pacientes com o transtorno do espectro autista no sul de Santa Catarina / Sociodemographic, clinical and familial aspects of patients with autism spectrum disorder in southern Santa Catarina

O transtorno do espectro autista (TEA) é considerado um distúrbio global do desenvolvimento que atinge a linguagem, a cognição e a interação social. OBJETIVO: Descrever o perfil diagnóstico de pacientes com o transtorno do espectro autista atendidos no Ambulatório de Neurogenética da Universidade do Sul de Santa Catarina. MÉTODOS: Foram analisados 122 prontuários de pacientes diagnosticados com Transtorno do Espectro Autista em acompanhamento regular no ambulatório de neurogenética da UNISUL entre os anos de 2010 e 2013. RESULTADOS: Foi encontrada a razão de 3 meninos para cada menina com TEA. O sexo feminino foi fator de risco para outros problemas de saúde. Problemas do sono e pais com problemas psiquiátricos estiveram associados a outras patologias clínicas e psiquiátricas. CONCLUSÃO: Entre os pacientes com TEA, o sexo feminino, história de pais com problemas psiquiátricos, e distúrbios do sono apresentaram associação estatística com comorbidades neurológicas, respiratórias e genéticas.

The Autism Spectrum Disorder (ASD) is considered a global disorder of the human development and it involves language, cognition and social interaction. AIM: To describe the diagnosis profile of patients living with ASD and attending the Neurogenetics Ambulatory of the Santa Catarina Southern University (UNISUL). METHODS: There have been analyzed 122 medical records of patients diagnosed with ASD in regular follow-up in the UNISUL's Neurogenetics Ambulatory between 2010 and 2013. RESULTS: The gender ratio of three boys to each girl in the sample have been found. Female gender was a risk factor for the occurrence of other medical conditions. Sleeping issues and parents with mental disorders were associated to other diseases. CONCLUSION: Among the patients with ASD, female gender, having parents with mental disorders and presenting sleeping problems were associated with neurological, respiratory and genetic comorbidities.

Diabetes case finding in the emergency department, using HbA1c: an opportunity to improve diabetes detection, prevention, and care.

OBJECTIVE: We assessed the efficacy of routine glycated hemoglobin (HbA1c) testing to detect undiagnosed diabetes and prediabetes in an urban Australian public hospital emergency department (ED) located in an area of high diabetes prevalence. METHODS: Over 6 weeks, all patients undergoing blood sampling in the ED had their random blood glucose measured. If ≥5.5 mmol/L (99 mg/dL), HbA1c was measured on the same sample. HbA1c levels ≥6.5% (48 mmol/mol) and 5.7-6.4% (39-46 mmol/mol) were diagnostic of diabetes and prediabetes, respectively. Hospital records were reviewed to identify patients with previously diagnosed diabetes. RESULTS: Among 4580 presentations, 2652 had blood sampled of which 1267 samples had HbA1c measured. Of these, 487 (38.4%) had diabetes (either HbA1c≥6.5% or a prior diagnosis), and a further 347 (27.4%) had prediabetes. Among those with diabetes, 32.2% were previously undiagnosed. CONCLUSIONS: Routine HbA1c testing in the ED identifies a large number of people with undiagnosed diabetes and prediabetes, and provides an opportunity to improve their care.