PRICKLE1-related early onset epileptic encephalopathy.

The PRICKLE1 (Prickle Planar Cell Polarity Protein 1-MIM 608500) gene is involved in different phases of human development. The related diseases include autosomal recessive progressive myoclonus epilepsy - ataxia syndrome, neural tube defects associated with heterozygous mutations, agenesis of corpus callosum, polymicrogyria, and autistic spectrum disorder. Reported here is a young boy with a new variant (NM_153026.2:c.820G>A, p.Ala274Thr) presenting with an early infantile epileptic encephalopathy with developmental arrest.

Daydreaming and psychopathology in adolescence: An exploratory study.

AIM: Daydreaming is a cognitive phenomenon characterized by the redirection of attention from the external world to inner representations. Although serving several adaptive functions, excessive daydreaming has been related to emotional problems and poor psychosocial adjustment. During adolescence, this phenomenon has been scarcely explored as potential psychopathological correlate. This study aims to explore daydreaming frequency and association with psychopathological symptoms in a non-referred population. METHODS: Participants were adolescents from a community sample (N = 251). Daydreaming was assessed through the Daydreaming Frequency Scale (DDFS). Youth Self-Report (YSR) and Strength and Difficulties Questionnaire (SDQ) were used as self-reports to evaluate psychopathological problems and adaptive functioning. RESULTS: Excessive daydreaming was present in 12.7% of participants. DDFS scores were significantly elevated in respondents with clinical scores for internalizing, depressive, obsessive-compulsive, and post-traumatic stress problems. Symptom severity correlated positively with the DDFS. Higher daydreaming was also associated with emotional symptoms, conduct problems and total difficulties on the SDQ. CONCLUSIONS: Adolescents who daydream show increased depressive, obsessive-compulsive, and post-traumatic stress symptoms. Possible cognitive processes at play in the relationship between daydreaming and psychopathology are discussed. Daydreaming may represent a silent psychopathological index that deserves better recognition in the clinical practice and in mental health initiatives for adolescents.

Prospective Validation of ATA and ETA Sonographic Pattern Risk of Thyroid Nodules Selected for FNAC.

Context: Recently, the American Thyroid Association (ATA) and the European Thyroid Association (ETA) have proposed that thyroid ultrasound (US) should be used to stratify the risk of malignancy in thyroid nodules and to aid decision-making about whether fine-needle aspiration cytology (FNAC) is indicated. Objective: To validate and to compare the ATA and ETA US risk stratification systems of thyroid nodules in a prospective series of thyroid nodules submitted to FNAC. Setting: We prospectively evaluated 432 thyroid nodules selected for FNAC from 340 patients. Cytology reports were based on the five categories according to the criteria of the British Thyroid Association. Results: The proportion of Thy2 nodules decreased significantly, whereas the proportion of Thy4/Thy5 nodules significantly increased with increasing US risk class (P < 0.0001). The ability to identify benign and malignant nodules was similar between ATA and ETA systems. According to ATA and ETA US risk stratification systems, 23.7% and 56.0% nodules did not meet the criteria for FNAC, respectively. Considering only categories at lower risk of malignancy, the cumulative malignancy rate in these nodules was 1.2% for ATA and 1.7% for ETA US risk stratification systems. Conclusions: ETA and ATA US risk stratification systems provide effective malignancy risk stratification for thyroid nodules. In clinical practice, using this approach, we should be able to reduce the number of unnecessary FNAC without losing clinically relevant thyroid cancer.

Toxoplasmose em parturientes de um Hospital do Sul de Santa Catarina, Brasil / Toxoplasmosis in parturients in a hospital in South Santa Catarina

Introdução: Atualmente, ainda existe uma alta incidência de infecção pelo Toxoplasma gondii durante o período gestacional, comparada com as demais doenças infecciosas que atingem as parturientes. Assim, este estudo visou identificar a presença de infecção aguda ou tardia pelo Toxoplasma gondii em gestantes e correlacioná-la à soropositividade para o Vírus da Imunodeficiência Humana (HIV). Métodos: Estudo transversal realizado com gestantes atendidas em um hospital do Sul de Santa Catarina, de agosto de 2015 a janeiro de 2016. Os dados foram coletados a partir de uma cópia do cartão das gestantes vinculado ao prontuário. Resultados: O estudo avaliou dados de 676 gestantes. A idade variou de 14 a 44 anos, sendo o grupo de 20 a 29 anos o mais prevalente (51,6%). Os resultados positivos para IgG, acompanhados de resultado negativo para IgM, corresponderam a um total de 175 (25,8%) gestantes. 420 (62,1%) pacientes possuíram resultados IgG negativos. 16 (2,3%) pacientes tiveram anticorpos IgM positivos. Destas, 04 pacientes possuíam IgG negativos e 12 IgG positivos. 2 (0,3%) pacientes tiveram resultado positivo para infecção pelo HIV. Não houve associação estatisticamente significativa entre IgM positivo e infecção pelo HIV, pesos alterados dos recém-nascidos e prematuridade. Conclusão: Verifica-se que há um elevado número de pacientes susceptíveis à infecção pelo T. gondii durante a gestação e, consequentemente, ao risco elevado de transmissão intraútero. Para o melhor conhecimento sobre as consequências desta infecção em parturientes, seria necessário o acompanhamento dos recém-nascidos por um longo período (AU)

Introduction: Currently, there is still a high incidence of Toxoplasma gondii infection during the gestational period, compared to other infectious diseases that affect parturients. This study was designed to identify the presence of acute or late infection by Toxoplasma gondii in pregnant women and to correlate it with seropositivity for Human Immunodeficiency Virus (HIV). Methods: A cross-sectional study was carried out with pregnant women seen at a hospital in southern Santa Catarina from August 2015 to January 2016. Data were collected from a copy of the pregnant women's card attached to the chart. Results: The study evaluated data from 676 pregnant women. Their age ranged from 14 to 44 years, with the group of 20-29 years old being the most prevalent (51.6%). The positive results for IgG accompanied by a negative result for IgM, amounted to a total of 175 (25.8%) women. 420 (62.1%) patients had negative IgG results. 16 (2.3%) patients had positive IgM antibodies. Of these, 4 patients had negative IgG and 12 positive IgG. Two (0.3%) patients tested positive for HIV infection. There was no statistically significant association between positive IgM and HIV infection, altered weights of the newborns, and prematurity. Conclusion: There is a high number of patients susceptible to infection by T. gondii during pregnancy and, thus, to a high risk of intrauterine transmission. For better knowledge about the consequences of this infection in parturients, it would be necessary to monitor the newborns for a long period (AU)

Pectus Excavatum e Situs Inversus Totalis: um relato de caso / Pectus excavatum and situs inversus totalis: a case report

O Pectus Excavatum consiste em uma deformidade óssea torácica caracterizada, basicamente, pela depressão do esterno e das cartilagens costais inferiores, podendo cursar com alterações da extremidade anterior das costelas na sua articulação com as cartilagens costais. Ademais, o Situs Inversus Totalis (STI) é caracterizado pelo desenvolvimento das vísceras no lado oposto de sua topografia habitual acompanhada de dextrocardia; ápice cardíaco voltado para a direita. Os autores relatam um caso combinado de Pectus Excavatum e Situs Inversus Totalis em um paciente jovem, do sexo masculino, diagnosticado no período da puberdade e discutem brevemente acerca de uma revisão literária do caso(AU)

Pectus excavatum is a chest bone deformity characterized primarily by depression of the sternum and the lower costal cartilages, which may be accompanied by changes in the anterior end of the ribs in its articulation with rib cartilage. In addition, the situs inversus totalis (SIT) is characterized by the development of the viscera on the opposite side of its usual topography accompanied by dextrocardia; cardiac apex facing the right. The authors report a combined case of pectus excavatum and situs inversus totalis in a young male patient diagnosed in the puberty period and briefly discuss about a literature review of the case(AU)

Critérios diagnósticos e prevalência de Diabetes Mellitus Gestacional em um hospital do sul de Santa Catarina / Diagnostic criteria and prevalence of gestational diabetes mellitus in a hospital in south Santa Catarina, Brazil

Introdução: Não há consenso na literatura com relação ao método de diagnóstico ideal para Diabetes Mellitus Gestacional (DMG). O objetivo foi estabelecer a prevalência de DMG nas parturientes atendidas em Tubarão/SC, conforme critérios diagnósticos utilizados pelo serviço de referência: classifi cação da Organização Mundial da Saúde ou The International Association of the Diabetes and Pregnancy Study Groups (IADPSG). Métodos: Estudo transversal realizado com gestantes atendidas em um hospital do Sul de Santa Catarina, de agosto de 2013 a abril de 2014. Os dados foram coletados a partir de uma cópia do cartão das gestantes vinculado ao prontuário. Resultados: O estudo avaliou 506 gestantes. O rastreamento por glicemia de jejum foi positivo em 153 (30,2%) mulheres, mas apenas 96 (62,7%) realizaram TOTG 75g. Três pacientes (0,6%) foram diagnosticadas de acordo com os critérios da OMS, os quais exigem a realização de TTGO para confirmação. Segundo critérios do consenso da Associação Internacional de Diabetes e Grupos de Estudos da Gravidez (IADSPG), o DMG foi confirmado em 73 pacientes (14,4%). Essa confirmação foi mais frequente em mulheres que tiveram rastreamento de glicemia positivo (p4000g) foi verificada em 11 (3,3%) bebês. A frequência de cesáreas foi de 70% nas mulheres com DMG e de 58,5% entre as sem o diagnóstico (p=0,09). Foram registrados dois abortos. Conclusão: A prevalência de DMG, conforme o consenso da IADSPG, foi de 14,4%, superior ao verificado pelo critério da OMS. Este último possivelmente subestimou a real frequência de DMG pela não complementação diagnóstica.

Introduction: There is no consensus in the literature regarding the ideal method for diagnosis of gestational diabetes mellitus (GDM). The aim was to establish the prevalence of GDM in pregnant women cared for in Tubarão, SC, according to the diagnostic criteria used by the reference service: the classifi cation of the World Health Organization or the International Association of Diabetes and Pregnancy Study Groups (IADPSG). Methods: Cross-sectional study of pregnant women at a hospital in southern Santa Catarina, from August 2013 to April 2014. Data were collected from a copy of the card of the women linked to the medical record. Results: The study evaluated 506 pregnant women. The fasting glucose screening was positive in 153 (30.2%) women, but only 96 (62.7%) underwent 75g OGTT. Three patients (0.6%) were diagnosed according to the WHO criteria, which requires performing OGTT for confi rmation. According to IADSPG consensual criteria, GDM was confi rmed in 73 patients (14.4%). This confi rmation was more frequent in women who tested positive for blood glucose (p 4000g) was observed in 11 (3.3%) babies. The frequency of cesarean sections was 70% in women with GDM and 58.5% among those without the diagnosis (p = 0.09). Two abortions were recorded. Conclusion: The prevalence of GDM, according to the IADSPG consensus, was 14.4%, higher than the one reported by the WHO criteria. The latter possibly underestimated the actual frequency of DMG owing to the lack of complementary testing.