Mucopolysacaridosis type iiib misdiagnosed as an autistic spectrum disorder: a case report and literature review / Mucopolissacaridose tipo iii b mal diagnosticada como transtorno de espectro autista: relato de caso e revisão de literatura

ABSTRACT Objective: To report a rare case of mucopolysaccharidosis IIIB in a pediatric patient, with emphasis on the description of the clinical manifestations and the early diagnosis. Case description: A 14-year-old male patient, who presented regression of neuropsychomotor development since his three years and six months old, with speech loss and frequent falls, evolving with behavioral changes, with agitation and aggressiveness. Although being diagnosed with autism, there was no response to the established treatment; he was subsequently submitted to metabolic investigation, which lead to the diagnosis of Mucopolysaccharidosis IIIB. Comments: Identifying a metabolic disorder requires connecting multiple signs and symptoms, as well as eliminating other apparent causes. MPS IIIB is a diagnostic challenge, particularly in the early stages and in the absence of a family history of the disease.

RESUMO Objetivo: Relatar o caso raro de um paciente pediátrico com mucopolissacaridose III B, com ênfase na descrição de manifestações clínicas. Descrição do caso: Paciente masculino de 14 anos que, a partir dos 3 anos e 6 meses de idade, apresentou regressão do desenvolvimento neuropsicomotor, com perda da fala e quedas frequentes, evoluindo com alterações comportamentais, agitação e agressividade. Diagnosticado como autista, não obteve resposta ao tratamento estabelecido, sendo posteriormente submetido à investigação metabólica, que evidenciou o diagnóstico de mucopolissacaridose III B. Comentários: A identificação de um distúrbio metabólico exige conectar vários sinais e sintomas, além de eliminar outras causas aparentes. A mucopolissacaridose III B é um desafio diagnóstico, particularmente nos estágios iniciais e na ausência de história familiar da doença.

MUCOPOLYSACARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW.

OBJECTIVE: To report a rare case of mucopolysaccharidosis IIIB in a pediatric patient, with emphasis on the description of the clinical manifestations and the early diagnosis. CASE DESCRIPTION: A 14-year-old male patient, who presented regression of neuropsychomotor development since his three years and six months old, with speech loss and frequent falls, evolving with behavioral changes, with agitation and aggressiveness. Although being diagnosed with autism, there was no response to the established treatment; he was subsequently submitted to metabolic investigation, which lead to the diagnosis of Mucopolysaccharidosis IIIB. COMMENTS: Identifying a metabolic disorder requires connecting multiple signs and symptoms, as well as eliminating other apparent causes. MPS IIIB is a diagnostic challenge, particularly in the early stages and in the absence of a family history of the disease.

Epidemiological and clinical assessment of patients undergoing Videolaparoscopic Cholecystectomy at a Curitiba teaching hospital. / Análise do perfil clínico epidemiológico dos pacientes submetidos a Colecistectomia Videolaparoscópica em um hospital de ensino de Curitiba.

OBJECTIVE: to assess clinical and epidemiological factors of patients undergoing video cholecystectomy at the Hospital da Cruz Vermelha do Paraná, Curitiba unit, operated from September 2016 to September 2018, as well as the influence of comorbidities, sex and advanced age on the postoperative prognosis, while in the hospital. METHODS: Analytic retrospective study. The analyzed variables were obtained by the review of medical records. Statistical analyses were performed considering the significance level p < 0.05. RESULTS: 389 patients, of whom 265 were women and 124 men, were included. The mean age was 51.5 years, 58.8% of the patients were diagnosed with at least one comorbidity, and 74.6% were overweight or obese. The incidence of intraoperative complications was 1.3%, postoperative 3.8% and, mortality, 0.3%. Some risk factors were identified as worse postoperative prognosis, such as Diabetes Mellitus, hypertension, presence of one or more comorbidities and mainly, advanced age, which was related to longer hospitalization times (p < 0,001), need of intensive therapy (p < 0,001), conversion to open surgery (p = 0,003) and postoperative complications (p < 0,001). Furthermore, the male sex was predictive of longer hospitalization times (p = 0,003) and need of intensive therapy (p = 0,01). CONCLUSION: the presence of comorbidities, male sex, and advanced age are predictive factors of bad prognosis for patients undergoing video laparoscopic cholecystectomy.

OBJETIVO: Analisar o perfil clínico e epidemiológico de pacientes submetidos a colecistectomia por vídeo no Hospital da Cruz Vermelha do Paraná, unidade de Curitiba, operados no período de setembro de 2016 a setembro de 2018, assim como a influência de comorbidades, sexo e idade avançada no prognóstico pós-operatório, durante o mesmo internamento. MÉTODOS: Estudo retrospectivo analítico, com dados coletados por revisão de prontuários. Análises estatísticas realizadas, considerando nível de significância p < 0,05. RESULTADOS: 389 casos foram incluídos, sendo 265 mulheres e 124 homens. A média de idade foi de 51,5 anos, 58,8% dos pacientes eram portadores de pelo menos uma comorbidade e 74,6% dos doentes tinham sobrepeso ou eram obesos. A incidência de complicações intraoperatórias foi de 1,3%, pós-operatórias de 3,8% e, a mortalidade, de 0,3%. Foram identificados fatores clínicos relacionados a pior prognóstico pós-operatório, como DM, HAS, presença de uma ou mais comorbidades e, destacadamente, idade avançada, que relacionou-se com maior tempo de internamento (p < 0,001), necessidade de UTI (p < 0,001), conversão para operação aberta (p = 0,003) e risco de complicações pós-operatórias (p < 0,001). Além disso, o sexo masculino foi preditivo para maior tempo de internamento (p = 0,003) e maior necessidade de UTI (p = 0,01). CONCLUSÃO: o perfil clínico-epidemiológico corresponde àquele exposto na literatura e a presença de comorbidades, o sexo masculino e a idade avançada são fatores preditivos de mau prognóstico na evolução pós-operatória de pacientes submetidos a colecistectomia videolaparoscópica.

Análise do perfil clínico epidemiológico dos pacientes submetidos a Colecistectomia Videolaparoscópica em um hospital de ensino de Curitiba / Epidemiological and clinical assessment of patients undergoing Videolaparoscopic Cholecystectomy at a Curitiba teaching hospital

RESUMO Objetivo: Analisar o perfil clínico e epidemiológico de pacientes submetidos a colecistectomia por vídeo no Hospital da Cruz Vermelha do Paraná, unidade de Curitiba, operados no período de setembro de 2016 a setembro de 2018, assim como a influência de comorbidades, sexo e idade avançada no prognóstico pós-operatório, durante o mesmo internamento. Métodos: Estudo retrospectivo analítico, com dados coletados por revisão de prontuários. Análises estatísticas realizadas, considerando nível de significância p < 0,05. Resultados: 389 casos foram incluídos, sendo 265 mulheres e 124 homens. A média de idade foi de 51,5 anos, 58,8% dos pacientes eram portadores de pelo menos uma comorbidade e 74,6% dos doentes tinham sobrepeso ou eram obesos. A incidência de complicações intraoperatórias foi de 1,3%, pós-operatórias de 3,8% e, a mortalidade, de 0,3%. Foram identificados fatores clínicos relacionados a pior prognóstico pós-operatório, como DM, HAS, presença de uma ou mais comorbidades e, destacadamente, idade avançada, que relacionou-se com maior tempo de internamento (p < 0,001), necessidade de UTI (p < 0,001), conversão para operação aberta (p = 0,003) e risco de complicações pós-operatórias (p < 0,001). Além disso, o sexo masculino foi preditivo para maior tempo de internamento (p = 0,003) e maior necessidade de UTI (p = 0,01). Conclusão: o perfil clínico-epidemiológico corresponde àquele exposto na literatura e a presença de comorbidades, o sexo masculino e a idade avançada são fatores preditivos de mau prognóstico na evolução pós-operatória de pacientes submetidos a colecistectomia videolaparoscópica.

ABSTRACT Objective: to assess clinical and epidemiological factors of patients undergoing video cholecystectomy at the Hospital da Cruz Vermelha do Paraná, Curitiba unit, operated from September 2016 to September 2018, as well as the influence of comorbidities, sex and advanced age on the postoperative prognosis, while in the hospital. Methods: Analytic retrospective study. The analyzed variables were obtained by the review of medical records. Statistical analyses were performed considering the significance level p < 0.05. Results: 389 patients, of whom 265 were women and 124 men, were included. The mean age was 51.5 years, 58.8% of the patients were diagnosed with at least one comorbidity, and 74.6% were overweight or obese. The incidence of intraoperative complications was 1.3%, postoperative 3.8% and, mortality, 0.3%. Some risk factors were identified as worse postoperative prognosis, such as Diabetes Mellitus, hypertension, presence of one or more comorbidities and mainly, advanced age, which was related to longer hospitalization times (p < 0,001), need of intensive therapy (p < 0,001), conversion to open surgery (p = 0,003) and postoperative complications (p < 0,001). Furthermore, the male sex was predictive of longer hospitalization times (p = 0,003) and need of intensive therapy (p = 0,01). Conclusion: the presence of comorbidities, male sex, and advanced age are predictive factors of bad prognosis for patients undergoing video laparoscopic cholecystectomy.

Reconstruction options for locally advanced breast cancer cases and their impact on the quality of life

Introduction: Radical surgical procedures are indicated for part of the patients with locally advanced breast cancer (LABC). The improvement in the use of myocutaneous flaps allowed surgeons to perform extensive resections, a procedure that can be traumatic for women, leading to several biopsychosocial complications in a shortened survival. Objectives: This study aimed at understanding the effects of surgical treatment on the quality of survival of patients with guarded and unchanging prognosis. Methodology: The project was designed in two stages: review of medical records with a sample of 27 cases and face-to-face interviews with the administration of questionnaires in a sample of five cases among the remaining patients who underwent LABC surgery at Hospital Erasto Gaertner in Curitiba (PR). Results: On average, the answers obtained with the World Health Organization Quality of Life (WHOQOL-BREF) instrument were "regular" for physical, psychological, and environmental domains and "good" for the social relations domain. In the 12-item short-form survey (SF-12), the means were 45,125 points for the mental component and 40,875 points for the physical one. These values show the impact of advanced disease, hygienic surgery, and chest reconstruction on the quality of life of the patients, reflecting the biopsychosocial damage caused by LABC. Conclusion: The data reveal that LABC treatment is aggressive, but in patients with survival, the surgical treatment associated with chest reconstruction had surprisingly positive results in relation to quality of life.