SoxB family genes delay regeneration and cause abnormal movement in Dugesia japonica.

SoxB subfamily is an important branch of Sox family and plays a key role in animal physiological process, but little is known about their function in planarian regeneration. This study aims to evaluate the function of DjSoxB family genes in intact and regenerating planarians Dugesia japonica. Here, we amplify the full-length cDNA of DjSoxB1 and DjSoxB2 in D. japonica by rapid amplification of the cDNA ends (RACE), detect the expression of DjSoxB family genes in planarian. The results show that DjSoxBs are expressed in parenchymal tissue and the hybridization signals partially disappear after irradiation indicates DjSoxB family genes are expressed in neoblasts. After the RNA interference (RNAi) of DjSoxB1, DjSoxB2 and DjSoxB3 separately, the numbers of proliferative cells are all reduced that causes planarians show slower growth of blastema in the early stage of regeneration, and nerves of planarians are affected that the movement speed of planarians decreases in varying degrees. Specially, planarians in the DjSoxB3 RNAi group show shrinkage and twisting. Overall, this study reveals that DjSoxB family genes play a role in cell proliferation during regeneration. They also play an important role in the maintenance of normal nerve function and nerve regeneration. These results provide directions for the functional study of SoxB family genes and provide an important foundation for planarian regeneration.

Association between the General Movement Optimality Score and clinical features in newborns during hospitalization: A cross-sectional study.

AIMS: To describe the General Movements (GMs) of hospitalized newborns to verify if their global and detailed GMA are related and if their GMs are associated with clinical features. METHODS: Cross-sectional study. Thirty-eight preterm and full-term newborns, who were hospitalized in the neonatal intermediate care unit of a reference hospital, were included. Prechtl's General Movement Assessment (GMA), including the General Movement Optimality Score (GMOS) list, was used as an assessment tool. Clinical variables, such as preterm birth, birthweight, length of hospitalization, Apgar scores, pregnancy problems, admission at neonatal intensive care unit, use of invasive mechanical ventilation, and brain imaging findings were also collected. Newborns were videoed at a single time for 3 min before discharge. RESULTS: Most newborns presented GMs with normal or poor repertoire quality. GMOS ranged from 17 to 42 points. Scores were lower in abnormal GMs. Abnormal GMs were associated with preterm birth, length of hospital stay >30 days and birthweight <2500 g. Accordingly, lower GMOSs were also associated with preterm birth, a birthweight <2500 g and a hospital stay >30 days but also with the invasive mechanical ventilation application. CONCLUSION: Preterm and full-term newborns presented normal or abnormal GMs during hospitalization. Preterm birth, low birthweight, longer hospital stay and a time period of invasive ventilation were associated with worse GM behaviors.

Identification of risk factors in pre-term infants with abnormal general movements.

Introduction: This study aimed to investigate the relationship between prenatal, perinatal, and postnatal risk factors for neurodevelopmental impairment (NDI) with the outcomes of General Movement (GM) Assessment (GMA) in pre-term infants at 3-5 months of age. We sought to identify the risk factors associated with the predictors of psychomotor development in pre-term newborns, such as normal fidgety movements (FMs), absent FMs, or abnormal FMs, assessed during the fidgety period of motor development. Methods: The SYNAGIS program (prophylactic of Respiratory Syncytial Virus Infection) was used to identify risk factors for the development of neuromotor deficits in 164 pre-term infants who were at high risk of developing these deficits. Based on the GMA, all participants were divided into three groups of infants who presented: (1) normal FMs; (2) absent FMs; and (3) abnormal FMs. Results: The results of the current study suggest that abnormal GMs not only indicate commonly known factors like birth asphyxia (BA), respiratory distress syndrome (RDS), periventricular leukomalacia (PVL), intraventricular hemorrhage (IVH) grades 3-4, but also predict the development of motor impairments. In the present study, several specific risk factors including bronchopulmonary dysplasia (BPD), infertility treatments, maternal acute viral/bacterial infections during pregnancy, and elevated bilirubin levels were identified as attributes of an atypical fidgety movement pattern. Conclusions: Additional clinical data, such as risk factors for NDI associated with early predictors of psychomotor development in pre-term newborns, i.e., absent or abnormal FMs, may be helpful in predicting neurological outcomes in pre-term infants with developmental concerns in the 1st month of life.

Diphenhydramine induced acute dystonia: a case report.

Acute dystonia has notably been a challenge in the emergency unit. Drug-induced dystonia is reported in a limited number of cases in the literature. Rarely, diphenhydramine was found to be the culprit. We report the case of a 25-year-old female patient who developed an acute dystonic reaction following the administration of 25 mg of intravenous diphenhydramine as a treatment for an allergic reaction. The patient was given 5 mg diazepam, admitted for monitoring, and discharged home. Diphenhydramine-induced acute dystonia is a user drug-induced threatening reaction that warrants further investigation on the metabolism of these drugs and the contributing phenotypes to this adverse reaction.

Subtyping chronic catatonia: Clinical and neuropsychological characteristics of progressive periodic catatonia and chronic system catatonias vs. non-catatonic schizophrenia.

Catatonia has been defined by ICD-11 as a nosologically unspecific syndrome. Previous neuropsychiatric conceptions of catatonia such as Wernicke-Kleist-Leonhard's (WKL) one, have isolated chronic catatonic entities, such as progressive periodic catatonia (PPC) and chronic system catatonias (CSC). This study aimed at comparing the clinical and neuropsychological features of PPC, CSC and non-catatonic patients, all diagnosed with a schizophrenia spectrum disorder (SSD). The clinical and cognitive measures were compared among 53 SSD patients, first by separating catatonic (C-SSD, n = 27) and non-catatonic patients (NC-SSD, n = 26), and second, by separating PPC (n = 20), CSC (n = 6) and NC-SSD patients. Bayes factors were used to compare the model with 1 or 2 catatonic groups. We found that PPC had a more frequent schizo-affective presentation, higher levels of depression and less positive psychotic symptoms than both CSC and NC-SSD. CSC patients had an earlier illness onset, a poorer cognitive functioning, and higher antipsychotics doses than both PPC and NC-SSD. Most differences between C- and NC-SSD were accounted by characteristics of either PPC or CSC. The model with 2 catatonic groups clearly outperformed that with 1 catatonic group. Our results point to a substantial clinical heterogeneity of 'catatonia' within the SSD population and suggest that distinguishing (at least) 2 chronic catatonic phenotypes (PPC and CSC) may represent a relevant step to apprehend this heterogeneity. It is also a more parsimonious attempt than considering the around 32.000 distinct catatonic presentations resulting from the combinations of 3 out of 15 polythetic criteria for ICD-11 catatonia.

Pharyngolaryngeal semiology and prognostic factors in multiple system atrophy.

INTRODUCTION: Multiple system atrophy (MSA) is a rare degenerative neurological disorder in adults. It induces parkinsonian and/or cerebellar syndrome associated with dysautonomia. Pharyngolaryngeal symptoms are common. Our aim is to describe the Pharyngolaryngeal semiology on one hand, and to ascertain whether the presence of these symptoms represents a prognostic factor for MSA on the other. METHODS: Thus, we carried out a retrospective, single-centre study, on a cohort receiving care at the centre of reference for MSA. The patients were referred for otorhinolaryngology assessment. The data was collected over the year 2020 with the help of computer software from the university hospital centre (UHC). Firstly, we described the Pharyngolaryngeal semiology specific to MSA by questioning patients, and by the results of nasofibroscopic examinations and swallowing tests. We then used multivariate analysis of variance to describe the prognostic factors of MSA progression (in UMSARS I and II points per month of progression) and survival (number of years between the first symptoms and death). RESULTS: This study included a hundred and one patients and made it possible to define a Pharyngolaryngeal semiology profile of MSA, which is: a reduction in laryngeal mobility (primarily vocal cord abduction defects), abnormal movements (particularly at rest or when initiating a movement) and a defect in the protection mechanisms of the upper airways. The swallowing difficulties are moderate and the main mechanisms are delayed pharyngeal swallow and/or an oro-pharyngeal transport defect. In the multivariate analyses, the contributing factors are laryngeal anomalies, modification of solid food to fluid food and nutritional complication. CONCLUSION: ENT specialists should pay close attention to problems in the Pharyngolaryngeal dynamic and then consider a neurological cause. They can also itemize the clinical factors that could have a negative effect on the prognosis of the patient with MSA. Indeed, early detection makes it possible to provide care for respiratory and nutritional complications.

Pediatric Sleep Medicine Cases.

Purpose of the Review: In this review, we will discuss commonly encountered pediatric sleep disorders, their clinical presentations, evaluation, and management. Recent Findings: Sleep problems are common complaints in the pediatric population with an estimated prevalence of at least 25%. This review examines frequently seen pediatric sleep disorders including insomnia, obstructive sleep apnea, hypersomnolence, circadian rhythm sleep-wake disorders, parasomnias, and movement disorders. Their clinical manifestations vary, but left untreated, these sleep disorders result in significant impairment. A detailed sleep history is key component in the evaluation process. Other useful tools include sleep diaries, questionnaires, and actigraphy. Polysomnography is often required for diagnosis. Treatment varies depending on the underlying sleep disorder. Pharmacologic treatment is often limited due to the lack of studies of safety and efficacy in the pediatric population. Summary: Sleep disorders are commonly encountered in the pediatric population. Their clinical manifestations vary, though without treatment, many result in significant impairment. Detailed sleep history is an essential part of the evaluation process, though polysomnography is often required. Treatment depends on the underlying diagnosis.

Motor abnormalities and basal ganglia in first-episode psychosis (FEP).

BACKGROUND: Motor abnormalities (MAs) are the primary manifestations of schizophrenia. However, the extent to which MAs are related to alterations of subcortical structures remains understudied. METHODS: We aimed to investigate the associations of MAs and basal ganglia abnormalities in first-episode psychosis (FEP) and healthy controls. Magnetic resonance imaging was performed on 48 right-handed FEP and 23 age-, gender-, handedness-, and educational attainment-matched controls, to obtain basal ganglia shape analysis, diffusion tensor imaging techniques (fractional anisotropy and mean diffusivity), and relaxometry (R2*) to estimate iron load. A comprehensive motor battery was applied including the assessment of parkinsonism, catatonic signs, and neurological soft signs (NSS). A fully automated model-based segmentation algorithm on 1.5T MRI anatomical images and accurate corregistration of diffusion and T2* volumes and R2* was used. RESULTS: FEP patients showed significant local atrophic changes in left globus pallidus nucleus regarding controls. Hypertrophic changes in left-side caudate were associated with higher scores in sensory integration, and in right accumbens with tremor subscale. FEP patients showed lower fractional anisotropy measures than controls but no significant differences regarding mean diffusivity and iron load of basal ganglia. However, iron load in left basal ganglia and right accumbens correlated significantly with higher extrapyramidal and motor coordination signs in FEP patients. CONCLUSIONS: Taken together, iron load in left basal ganglia may have a role in the emergence of extrapyramidal signs and NSS of FEP patients and in consequence in the pathophysiology of psychosis.

A variety of abnormal movements in 13 cases with nutritional cobalamin deficiency in infants.

HYPOTHESIS: Abnormal movements such as tremor, myoclonus, and choreoathetosis due to infantile nutritional vitamin B12 (Cbl, cobalamin) deficiency or after Cbl injection have been recognized for many years. However, nutritional Cbl deficiency may be more common than recognized and a variety of the abnormal movements may be beyond our estimates. OBJECTIVE: To define the relationship between a large variety of abnormal movements in infants and vitamin B12 deficiency even if serum vitamin B12 levels and/or examination are normal. MATERIALS AND METHODS: This study analyzed a variety of abnormal movements such as involuntary eye movements, limb and body contractions, and gasping as well as clinical, metabolic, radiologic, and treatment results in 13 infants with nutritional Cbl deficiency. This is a retrospective study based on observation and experience. RESULTS: This study included 13 infants (11 boys and 2 girls) with a large spectrum of abnormal movements, the mean age at admission was 8.3 months with a range of 3-22 months. All patients were breastfeeding. In seven cases and their mothers serum vitamin B12 levels were below 200 pg/ml. About one-third of cases serum vitamin B12 levels were over 200 pg/ml. Clinically, mild hypotonia was present in 5 cases, inadequate social interactions in 2 cases, and sensorineural hearing loss in one case. Brain MRI showed frontotemporal enlarged subarachnoid spaces and thinning of the corpus callosum in two cases. EEG examinations were normal in all cases at admission. All cases recovered rapidly within one month with treatment. CONCLUSION: Nutritional Cbl deficiency is a treatable disease that should be considered in the etiology of a variety of movement abnormalities in infants even if serum vitamin B12 values and neurological development are normal.

Variabilidad fenotípica del déficit de GLUT1: ¿Cuándo es necesario sospechar? / Phenotypic variability of GLUT1 deficiency: when is necessary to suspect?

Resumen: Introducción: La deficiencia del transportador de glucosa tipo 1 constituye un síndrome (SD-GLUT1), provocado por la mutación del gen SLC2A1, que codifica la proteína transportadora de glucosa al encéfalo. Las manifestaciones neurológicas se dan en tres dominios principales: crisis epilépticas, movimientos anormales y alteraciones cognitivas. El diagnóstico se presume ante el hallazgo de hipoglucorraquia y se confirma mediante el análisis molecular del gen. La importancia de precisarlo radica en que tiene tratamiento específico, la dieta cetogénica. Objetivo: Analizar dos casos clínicos de SD-GLUT1 de presentación atípica, destacando la variabilidad del fenotipo. Caso Clínico: Presentamos el caso de dos hermanos cuyas manifestaciones fueron crisis epilépticas de tipo ausencias típicas, y un trastorno paroxístico del movimiento. Los pacientes fueron estudiados encontrándose hipoglucorraquia en ambos y se confirmó diagnóstico de SD-GLUT1 con estudio molecular. El tratamiento específico con dieta cetogénica logró buena respuesta. Conclusiones: Exponemos sus características clínicas peculiares que nos permitieron sospechar este cuadro, de espectro fenotípico amplio, cuyo diagnós tico y tratamiento, correcto y oportuno, puede mejorar significativamente la calidad de vida de los afectados.

Abstract: Introduction: Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS) is caused by the SLC2A1 gene muta tion, which encodes the glucose transporter proteins to the brain Neurological manifestations occur in three main domains: seizures, abnormal movements, and cognitive disorders. The diagnosis is presumed upon the finding of low CSF glucose and confirmed by the gene molecular analysis. Ac curate diagnosis is important because it has a specific treatment, which is ketogenic diet. Objective: To analyze two SD-GLUT1 pediatric patients with unusual phenotype. Clinical Case: We present the case of two siblings who presented absence seizures and a paroxysmal movement disorder. Both patients were studied, finding low CSF glucose. The diagnosis of GLUT1-DS was confirmed with molecular analysis. Specific treatment with ketogenic diet achieved good response in both cases. Con clusions: We present their peculiar clinical characteristics that allowed us to suspect this wide phe notypic spectrum. Correct and timely diagnosis and treatment can significantly improve the quality of life of those affected.

The Emergence of a Stereotypic Movement During Intensive Short-Term Dynamic Psychotherapy in a Patient with Obsessive Compulsive Disorder: A Case Report.

No previous research has investigated the emergence of stereotypic movements in patients during psychotherapeutic sessions, nor have such movements been mentioned in the numerous articles on Habib Davanloo's technique of intensive short-term dynamic psychotherapy. In this article, we present two clinical vignettes from early intensive short-term dynamic psychotherapy sessions, using Davanloo's technique, with a patient who was observed to have an emerging stereotypic movement. These vignettes, extracted from the videotaped sessions using audiovisual technology, concern a young woman who is known to have treatment-resistant obsessive-compulsive disorder. By presenting this case report, we aim to highlight the possibility of the occurrence of such a movement in response to specific interventions, and propose its clinical significance. We interpret this movement as being a tension-releasing mechanism that manifests in response to the therapist's exploration of the patient's emotions. We propose that the purpose of this stereotypic movement is to defend against the patient's actual experience of her repressed feelings. Clinical outcome of this case suggests that psychodynamic psychotherapy could be an effective intervention for patients with treatment-resistant obsessive-compulsive disorder.

Movement Disorders in Metabolic Disorders.

PURPOSE OF REVIEW: We provide a review of the movement disorders that complicate selected metabolic disorders, including the abnormal movements that may appear during or after their treatment. RECENT FINDINGS: Movement disorders may be underrecognized when arising in the context of a broad range of metabolic disorders. Abnormal movements may occur as the initial manifestation of a systemic disease, at any time during its course, or as a result of the medical interventions required for its management. Ascertaining movement phenomenology in acute and subacute presentations may assist in the determination of the specific underlying metabolic disorder. The management of movement disorders associated with metabolic disorders depends on the underlying pathophysiology.

Encefalitis inmunomediada, serie de casos / Encephalitis immunemediated, a case series

INTRODUCCIÓN: La encefalitis es una inflamación grave que involucra el tejido cerebral que se desarrolla de manera aguda o subaguda generalmente en menos de 4-6 semanas, presentando un alto riego de morbi-mortalidad sin un tratamiento adecuado. Las etiologías pueden ser diversas, así como también los tratamientos requeridos. La identificación de la causa constituye entonces un desafío diagnóstico. En la última década, ha habido un aumento en la identificación de formas de encefalitis asociadas con "anticuerpos de superficie neuronal". La patogénesis de las encefalitis autoinmunes radica en una respuesta inmune humoral, de anticuerpos dirigidos contra antígenos neuronales intracelulares, por un mecanismo etiopatogénico diferente, causado por una infección previa o asociado a tumores ocultos, como síndrome para neoplásico, este último más frecuente en adultos. La encefalitis por receptores de glutamato-Nmetil-D-aspartato es la forma más frecuente en niños, seguida a las encefalomielitis desmielinizantes agudas. En la clínica de los pacientes predominan cambios súbitos de conducta y trastornos del movimiento, como así también convulsiones, lo que obliga a descartar causas infecciosas, traumáticas, junto con factores tóxicos, metabólicos y neoplásicos, que a veces conlleva a una demora diagnóstica. Los métodos complementarios diagnósticos pueden ser más o menos específicos para las diferentes fases de la enfermedad. La Resonancia Magnética de cerebro puede mostrar lesiones hipertensas en región límbica o temporal, o ser normal al inicio del cuadro clínico. En la punción lumbar se puede encontrar pleocitosis linfocítica leve a moderada, aumento de la concentración de proteínas o bandas oligoclonales en aproximadamente el 50% de los casos. A nivel electroencefalográfico, un patrón Delta Brush, puede estar presente en un 30-40% de los pacientes. En la bibliografía revisada, se recomienda iniciar la inmunoterapia empíricamente. Aunque algunos pacientes experimentan una recuperación completa espontánea, esto no es frecuente y no es posible identificar a los pacientes con pronóstico favorable. La terapia de primera línea por lo general incluye esteroides, seguida o combinada, con administración de inmunoglobulina intravenosa. En caso de que el tratamiento de primera línea sea insatisfactorio, se debe iniciar tratamiento de segunda línea, con rituximab, ciclofosfamida o micofenolato, solo o en combinación. Con respecto al abordaje terapéutico, se deben esbozar estrategias adaptadas para cada paciente, considerando un enfoque menos agresivo para aquellos con un resultado generalmente mejor, teniendo en cuenta los posibles efectos secundarios versus beneficiosos de los medicamentos inmunoterápicos. (AU)

INTRODUCTION: Since the first description, immune-mediated encephalitis (EI), among them, against the anti-NMethyl-D-Aspartate (NMDAr) receptor has been increasingly recognized, being considered the most frequent immunomediated inflammatory process after Encephalomyelitis acute disseminated. OBJECTIVE: To describe trends in pediatric patients diagnosed with El. MATERIALS AND METHODS: Retrospective, observational clinical histories review was performed in the last 4 years. Eight patients with EI described. The mean age at diagnosis was 7.6 years. The delay in the diagnostic ranged from 6 to 65 days, with 26 days' average. Seven presented final EI, EI AntiNMDA el 6 and one Hashimoto El. RESULTS: Within 15 days of evolution, patients had seizures associated with behavioral changes and abnormal movements, the most frequent orofacial dyskinesias in 38%. In all cases first - line treatment was performed. Four required smafé pla resist. In three patients with second line treatment Rituximab was performed and one cyclophosphamide. The Deltha Brush Pattern was observed in a patient. In 6 of the 8 patient's complete remission (75%) was observed. There was no patient in association with occult tumors. Time tracking in an average of 2 2.8 months with a range of 4-48 months. CONCLUSIONS: Since its description to date, EI reports have been increasing. The presence of seizures associated with cognitive and behavioral changes should raise the index of suspicion and their specific study guide. Early initiation of treatment is associated directly with prognosis and evolution. (AU)

Hemiballismus in Uncontrolled Diabetes Mellitus.

Hemiballismus, a subtype of chorea, is a rare movement disorder, and is most commonly found secondary to stroke. Movements are involuntary, violent, coarse, and have a wide amplitude. There is increasing report of hemiballismus occurring in non-ketotic hyperglycemia. Spontaneous improvements or remissions were observed in many patients, and treatment should be directed towards the cause of hemiballismus. There is no randomized control trial to guide clinicians in deciding the best treatment option when managing hemiballismus. Symptomatic treatment includes the use of drugs such as dopamine receptor blocker and tetrabenazine. Surgical treatment is reserved for severe, persistent, and disabling hemiballismus. This case is of an elderly woman with long standing uncontrolled diabetes who presented with abnormal movement in her left upper limb for 2 months, which resolved slowly with good control of her glucose levels. Treating physicians need to have a high index of suspicion to prevent mismanagement of the condition.

Finger Flexion to Noxious Stimulation in a Brain-dead Patient: A Case Report and Review of Literature.

Several guidelines and definitions for brain death have been proposed. The Uniform Determination of Death Act (UDDA) in 1980, the American Academy of Neurology (AAN) guidelines in 1995 and the later update in 2010 have all described standards for diagnosing brain death. As brain death testing became more commonly performed, several abnormal reflexive movements were recognized and led to ambiguities that falsely suggested retained brain function. Movements in the upper extremities have been under-recognized. We report a brain-dead patient with finger flexion in the upper extremities with noxious stimulation and suspect a pathogenesis similar to that of Hoffman's reflex sign. We present a case of an asthmatic patient who presented with pulseless electrical activity (PEA). The patient was managed emergently and subsequently deteriorated to a comatose state. She remained in a comatose state following management and showed diffuse cerebral edema secondary to anoxic brain injury on computed tomography (CT) scan. Subsequent apnea testing, transcranial Doppler studies (TCD) and detailed neurological examinations were performed. She was eventually declared brain dead. On nailbed pressure to her fourth finger, she had flexion of her third finger, similar to the finding of a Hoffman's sign in an upper motor neuron injury. We have described this case in detail and reviewed the literature on abnormal movements in brain-dead patients.

A Study on Drug-Induced Tardive Dyskinesia: Orofacial Musculature Involvement and Patient's Awareness.

OBJECTIVE: Schizophrenia is a psychiatric disorder that requires long-term treatment. Long-term antipsychotic treatment is often associated with the emergence of tardive dyskinesia (TD), the severity of which is measured by Abnormal Involuntary Movement Scale (AIMS). This study examined the relationship among TD, orofacial musculature activity, and patient's awareness of AIM. The knowledge would help dentists to deliver oral care for schizophrenics with TD. MATERIALS AND METHODS: We identified 317 patients from a standard, data sharing initiative, of whom 38.3% exhibited AIM score of 2 to 15. The patient demographics, drug history, details of AIMS were subjected to descriptive and inferential statistical analysis using SPSS with P≤0.05 as significance. RESULTS: The mean of only orofacial features (n = 56) was 3.43 ± 2.68. Muscles of facial expression was involved in nine (7.9% of all TD), lip/perioral area in 27 (23.68%), jaw in 52 (45.61%), and tongue in 77 (67.54%). The patient's perception of AIM precipitated stress when involving jaw, tongue, limbs, and trunk was statistically significant (P≤0.05). The multiple regression model statistically significantly predicted TD for factors considered. CONCLUSION: Around 1% of global population is being diagnosed with schizophrenia, carry an inherent risk of developing TD. They might have orodental care requirements, including prosthodontic and restorative services. Primary physicians and dentists need to be aware of TD and its mechanism for appropriate patient management.

Motor abnormalities and cognitive impairment in first-episode psychosis patients, their unaffected siblings and healthy controls.

Motor abnormalities (MAs) may be already evidenced long before the beginning of illness and are highly prevalent in psychosis. However, the extent to which the whole range of MAs are related to cognitive impairment in psychosis remains understudied. This study aimed to examine comparatively the relationships between the whole range of motor abnormalities and cognitive impairments in the first-episode of psychosis (FEP), their unaffected siblings and healthy control subjects. Fifty FEP patients, 21 of their healthy siblings and 24 age- and sex matched healthy controls were included. Motor assessment included catatonic, extrapyramidal and neurological soft signs (NSS) by means of standardized instruments. An exhaustive neuropsychological battery was also performed to extract the 7 cognitive dimensions of MATRICS initiative. Higher scores on NSS but not on extrapyramidal and catatonic signs showed significant associations with worse cognitive performance in the three study groups. However, the pattern of associations regarding specific cognitive functions was different among the three groups. Moreover, extrapyramidal signs showed significant associations with cognitive impairment only in FEP patients but not in their unaffected siblings and healthy controls. Catatonic signs did not show any significant association with cognitive functioning in the three study groups. These findings add evidence to the associations between motor abnormalities, particularly NSS and extrapyramidal signs, and cognitive impairment in first-episode psychosis patients. In addition, our results suggest that the specific pattern of associations between MAs and cognitive functioning is different in FEP patients from those of the unaffected siblings and healthy subjects.

Motor abnormalities in first-episode psychosis patients and long-term psychosocial functioning.

Motor abnormalities (MAs) are highly prevalent in patients with first-episode psychosis both before any exposure and after treatment with antipsychotic drugs. However, the extent to which these abnormalities have predictive value for long-term psychosocial functioning is unknown. One hundred antipsychotic-naive first-episode psychosis (FEP) patients underwent extensive motor evaluation including catatonic, parkinsonism, dyskinesia, akathisia and neurological soft signs. Patients were assessed at naïve state and 6months later. Patients were followed-up in their naturalistic treatment and settings and their psychosocial functioning was assessed at 6-month, 1year, 5year and 10years from the FEP by collecting all available information. A set of linear mixed models were built to account for the repeated longitudinal assessment of psychosocial functioning during the follow-up regarding to the five domains of MAs (catatonic, parkinsonism, akathisia, dyskinesia and neurologic soft-signs) at index episode at antipsychotic naïve state and after 6months of FEP. Basic epidemiological variables, schizophrenia diagnosis and average of chlorpromazine equivalent doses of antipsychotic drugs were included as covariates. Catatonic signs and dyskinesia at drug-naïve state were significantly associated with poor long-term psychosocial functioning. Moreover, higher scores on parkinsonism, akathisia, neurological soft signs and catatonic signs at 6-month of FEP but not dyskinesia showed significant associations with poor long-term psychosocial functioning. Our results added empirical evidence to motor abnormalities as core manifestations of psychotic illness before and after antipsychotic treatment with high predictive value for poor long-term psychosocial functioning in FEP patients.

Hemiballismus in Uncontrolled Diabetes Mellitus / 가정의학회지

Hemiballismus, a subtype of chorea, is a rare movement disorder, and is most commonly found secondary to stroke. Movements are involuntary, violent, coarse, and have a wide amplitude. There is increasing report of hemiballismus occurring in non-ketotic hyperglycemia. Spontaneous improvements or remissions were observed in many patients, and treatment should be directed towards the cause of hemiballismus. There is no randomized control trial to guide clinicians in deciding the best treatment option when managing hemiballismus. Symptomatic treatment includes the use of drugs such as dopamine receptor blocker and tetrabenazine. Surgical treatment is reserved for severe, persistent, and disabling hemiballismus. This case is of an elderly woman with long standing uncontrolled diabetes who presented with abnormal movement in her left upper limb for 2 months, which resolved slowly with good control of her glucose levels. Treating physicians need to have a high index of suspicion to prevent mismanagement of the condition.

Transtornos do sono: atualização (1/2) / Sleep disorders: up to date (1/2)

Esta é uma primeira parte (1/2) da abordagem de fundamentos do sono e transtornos do sono (TS) sobre aspectos: neurobiológicos (neuroanatômicos, neuroquímicos e fisiológicos); clínicos (anamnese e exame físico; exames subjetivos - questionários e escalas; exames objetivos - polissonografia, teste de latências múltiplas e actigrafia). É valorizada a terceira Classificação Internacional dos Transtornos do Sono (ICSD-3) para abordar aspectos clínicos, diagnósticos e terapêuticos, segundo as quatro queixas principais referentes dos TS: Insônia, Sonolência excessiva diurna, Movimentos e comportamentos anormais durante o sono e Incapacidade de dormir na hora desejada. Neste artigo abordamos apenas: 1-Insônia - dificuldade em adormecer ou manter-ser dormindo, acordar cedo, ou um distúrbio na qualidade do sono que faz com que o sono pareça inadequado ou não restaurador; duração: aguda ou crônica; 2- Sonolência excessiva diurna; consequente a distúrbios do sono, privação do sono; distúrbios centrais da hipersonia; distúrbios médicos ou psiquiátricos. (AU)

This is the first part (1/2) on this paper about sleep fundamentals and sleep disorders (TS) questions: neurobiological (neuroanatomical, neurochemical and physiological); clinical (anamnesis and physical examination; subjective exams - questionnaires and scales; objective examinations - polysomnography, multiple latency tests and actigraphy). The third International Classification of Sleep Disorders (ICSD-3) is valued to address clinical, diagnostic and therapeutic aspects, according to the four main complaints regarding TS: Insomnia, Excessive daytime drowsiness, Abnormal movements and behaviors during sleep, and Inability to sleep at the desired time. In this paper, it is discussed the only first two: 1-Insomnia: difficulty falling as-leep, staying asleep, early morning waking, non- restorative sleep, quality of sleep, and amount of sleep; duration: acute or chronic. (AU)