Ricardo Schmitt de

Universidade Federal do Paraná

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Renato P. Munhoz

Toronto Western Hospital

Marta Mitiko Deguti

Universidade de São Paulo

Salmo Raskin

DNA Consult Genética e Biotecnologia (Brazil)

Egberto Reis Barbosa

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

Eduardo Luiz Rachid Cançado

Universidade de São Paulo

Dominique Araujo Muzzillo

Hospital de Clínicas Universidade Federal do Paraná

Romeu Hausberger

Universidade Federal do Paraná

Renato Nisihara

Universidade Positivo

Raquel Canzi Almada de Souza

Universidade Federal do Paraná

Thiago Ferreira de Araújo

Universidade de São Paulo

Cooperative Institutions

Universidade Federal do Paraná

Hospital de Clínicas Universidade Federal do Paraná

Universidade de São Paulo

Hospital de Clínicas

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

Pontifícia Universidade Católica do Paraná

Hospital Universitário Evangélico de Curitiba

Hospital Nossa Senhora das Graças

Universidade Federal de São Paulo

Faculdade Evangélica do Paraná

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Performance of computed tomographic colonography for the screening of colorectal polyp in acromegalic patients: a prospective study

Arquivos de Gastroenterologia (2009)

Odery Ramos César Luiz Boguszewski Sandra Teixeira Ricardo Schmitt de Benito Parolim

CONTEXT: Acromegalic patients have better chances to develop colorectal polyps and cancer and, considered a high-risk group, need to undergo frequent screening examinations. Moreover, in acromegalia, the increased bowel length and the intestinal loop complexity can lead to higher levels of technical difficulties and increase the risks of complications at conventional colonoscopy. Computed tomographic colonography, also known as virtual colonoscopy, is an innovative and secure technology which is revolutionizing the diagnosis of colon and rectum neoplasias. OBJECTIVE: To analyze computed tomographic colonography performance for the screening of colorectal polyps in acromegalic patients. METHODS: A prospective study of 21 asymptomatic acromegalic patients, 12 male and 9 female, average age 49, who underwent computed tomographic colonography and conventional colonoscopy. Computed tomographic colonography was performed with a GE Helical Multislice Computed Tomography Apparatus. Conventional colonoscopy was performed in the same day, without previous knowledge of the computed tomographic colonography diagnostics. The study evaluated the capacity of computed tomographic colonography to detect patients with colorectal polyps and identify each colorectal lesion described by the colonoscopy. RESULTS: In two patients (2/21), conventional colonoscopy was incomplete. However, in all patients computed tomographic colonography was complete. In Phase I ("per patient"), computed tomographic colonography diagnosed eight of the nine patients with colorectal polyps and showed 88% sensitivity, 75% specificity and 81% accuracy. In Phase II ("per polyp"), out of the 21 acromegalic patients included in this study, 12 presented normal findings at conventional colonoscopy. A total of 19 polyps were identified in 9 patients. Ten of the 19 polyps were smaller than 10 mm, and 9 were equal to or larger than 10 mm. Computed tomographic colonography identified 7 of the 9 polyps >10 mm described by conventional colonoscopy and only 6 of the 10 small polyps identified at conventional colonoscopy were detected by computed tomographic colonography. The histological analysis of resected lesions revealed 12 tubular adenomas, 6 hyperplastic polyps and 1 colonic tubulo-villous adenoma with an adenocarcinoma focus. CONCLUSION: The authors present the first reports of computed tomographic colonography in the screening of colorectal polyps in acromegalic patients. In this study, computed tomographic colonography was performed without complications and a complete and safe colorectal evaluation was possible in all acromegalic patients. Moreover, computed tomographic colonography presented good sensitivity, specificity and accuracy for the identification of acromegalic patients with polyps of any size and better results in the diagnosis of large polyps, when they were compared to small polypoid lesions.

Virtual colonoscopy

Colorectal Polyp

10.1590/s0004-28032009000200003

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Citations (11)

Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene

Arquivos de Neuro-Psiquiatria (2013)

Ricardo Schmitt de Salmo Raskin Dominique Araujo Muzzillo Marta Mitiko Deguti Eduardo Luiz Rachid Cançado

OBJECTIVE: Wilson's disease (WD) is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in a group of patients living in southern Brazil. METHODS: 36 WD subjects were studied and classified according to their clinical and epidemiological data. In 23 subjects the ATP7B gene was analyzed. RESULTS: Fourteen distinct mutations were detected in at least one of the alleles. The c.3207C>A substitution at exon 14 was the most common mutation (allelic frequency=37.1%) followed by the c.3402delC at exon 15 (allelic frequency=11.4%). The mutations c.2018-2030del13 at exon 7 and c.4093InsT at exon 20 are being reported for the first time. CONCLUSION: The c.3207C>A substitution at exon 14, was the most common mutation, with an allelic frequency of 37.1%. This mutation is the most common mutation described in Europe.

Genotype-phenotype distinction

10.1590/0004-282x20130078

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First reports of computed tomographic colonography for the screening of colorectal polyps in acromegalic patients

Nature Precedings (2008)

Odery Ramos César Luiz Boguszewski Sandra Teixeira Anke Boeving Ricardo Schmitt de

Abstract *Aim:* To analyze the CTC performance for the screening of colorectal polyps in acromegalic patients. *Materials and Methods:* A prospective study of 21 acromegalic patients, 12 male and 9 female, average age 49, who underwent CTC and CC. CTC was performed with a GE Helical Multislice Computed Tomography Apparatus. The colonoscopy was performed, in the same day, without previous knowledge of the CTC diagnostics. The study evaluated the capacity of CTC to detect patients with colorectal polyps and identify each colorectal lesion described by CC. *Results:* In two patients (2/21), CC was incomplete. However, in all patients CTC was complete. In Phase I (“Per Patient”), CTC diagnosed 8 of the 9 patients with colorectal polyps and showed 88% sensitivity, 75% specificity and 81% accuracy. In Phase II (“Per Polyp”), out of the 21 acromegalic patients included in this study, 12 presented normal findings at CC. A total of 19 polyps were identified in 9 patients. 10 of the 19 polyps were smaller than 10 mm, and 9 were equal to or larger than 10. CTC identified 7 of the 9 polyps ≥ 10 mm described by CC and only 6 of the 10 small polyps identified at CC were detected by CTC. The histological analysis of resected lesions revealed 12 tubular adenomas, 6 hyperplastic polyps and 1 colonic tubulo-villous adenoma with an adenocarcinoma focus. *Conclusion:* In this study, CTC was performed without complications and a complete and safe colorectal evaluation was possible in all acromegalic patients. Moreover, CTC showed good sensitivity to identify acromegalic patients with colorectal polyps.

Colorectal Polyp

Hyperplastic Polyp

10.1038/npre.2008.2323.1

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Peroral antegrade pancreatoscopy for pancreaticolithiasis after endoscopic ultrasound-guided recanalization of a complete pancreaticojejunal stenosis

Endoscopy (2018)

Eduardo A. Bonin Raquel Canzi Almada de Souza Eloy Taglieri Nelson Silveira Cathcart Elisandre dos Santos

Pancreaticoduodenectomy may result in symptomatic pancreaticojejunal stenosis in 2 % – 10 % of cases [1]. As an alternative to surgery, endoscopic pancreatic duct decompression may be performed by retrograde (enteroscopy) or antegrade (endoscopic ultrasound [EUS]-guided transgastric access) approach [2]. The latter is more likely to be technically successful (up to 70 % of cases) [3], and also enables anastomotic recanalization [4]. For pancreaticolithiasis treatment, an antegrade pancreatoscopy procedure has been recently described as feasible and useful [5].

Endoscopic Ultrasound

10.1055/a-0677-1623

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Epilepsy in children with cerebral palsy

Arquivos de Neuro-Psiquiatria (2001)

Isac Bruck Sérgio Antônio Antoniuk Adriane Spessatto Ricardo Schmitt de Romeu Hausberger

To describe the prevalence and characteristics of epilepsy in patients with cerebral palsy in a tertiary center.a total of 100 consecutive patients with cerebral palsy were retrospectively studied. Criteria for inclusion were follow-up period for at least 2 years. Types and incidence of epilepsy were correlated with the different forms of cerebral palsy. Other factors associated with epilepsy such as age of first seizure, neonatal seizures and family history of epilepsy were also analysed.follow-up ranged between 24 and 151 months (mean 57 months). The overall prevalence of epilepsy was 62%. Incidence of epilepsy was predominant in patients with hemiplegic and tetraplegic palsies: 70.6% and 66.1%, respectively. First seizure occurred during the first year of life in 74.2% of patients with epilepsy. Generalized and partial were the predominant types of epilepsy (61.3% and 27.4%, respectively). Thirty-three (53.2%) of 62 patients were seizure free for at least 1 year. Neonatal seizures and family history of epilepsy were associated with a higher incidence of epilepsy.epilepsy in cerebral palsy can be predicted if seizures occur in the first year of life, in neonatal period and if there is family history of epilepsy.

Neonatal seizure

Generalized epilepsy

Epilepsy in children

10.1590/s0004-282x2001000100008

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COVID-19 AND DIGESTIVE ENDOSCOPY: EMERGENCY ENDOSCOPIC PROCEDURES AND RISK FACTORS FOR UPPER GASTROINTESTINAL BLEEDING

Arquivos de Gastroenterologia (2021)

Leticia Rosevics Bruna Streppel Fossati Sandra Teixeira Ricardo Schmitt de Raquel Canzi Almada de Souza

ABSTRACT BACKGROUND: The COVID-19 pandemic has changed digestive endoscopy services around the world. OBJECTIVE: This study aimed to measure the number of urgent/emergency endoscopic procedures performed in a Brazilian hospital, comparing it to the same period in the previous year, and to identify risk factors in COVID-19 patients undergoing endoscopic procedures for upper gastrointestinal bleeding (UGIB). METHODS: This was a retrospective, cross-sectional, observational, single-center study. The study evaluated urgent/emergency endoscopic procedures performed on adult patients from March to August in 2019 and 2020. The COVID-19 patients included were diagnosed using RT-PCR, aged over 18 years with complete medical record information. The variables evaluated were age, sex, comorbidities, length of stay, D-dimer, need for intensive care unit (ICU) and mechanical ventilation. Student’s t-test for independent samples or the non-parametric Mann-Whitney test was used to compare quantitative variables. Categorical variables were analyzed using Fisher’s exact test. A P-value <0.05 indicated statistical significance. RESULTS: A total of 130 urgent/emergency endoscopic procedures were performed in 2020 and 97 in 2019. During the study period, 631 patients were hospitalized due to COVID-19, of whom 16 underwent urgent/emergency endoscopic procedures, 10 (1.6%) due to UGIB. Of the variables analyzed, the need for ICU and/or mechanical ventilation during hospitalization was statistically significant as a risk factor for UGIB. CONCLUSION: This study showed increased urgent/emergency endoscopic procedures during the pandemic at the study site. Among the patients hospitalized with the novel coronavirus, there is a higher risk for UGIB in those needing ICU and/or mechanical ventilation.

Pandemic

Duodenitis

Continuous variable

Upper Gastrointestinal Bleeding

10.1590/s0004-2803.202100000-57

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Citations (7)

Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson’s disease

Journal of Clinical Neuroscience (2013)

Walter O. Arruda Renato P. Munhoz Ricardo Schmitt de Marta Mitiko Deguti Egberto Reis Barbosa

Compound heterozygosity

10.1016/j.jocn.2013.02.030

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Citations (14)

3.066 WILSON'S DISEASE IN SOUTHERN BRAZIL: MUTATIONAL ANALYSIS, GENOTYPE-PHENOTYPE CORRELATION AND DESCRIPTION OF TWO NOVEL MUTATIONS IN THE ATP7B GENE

Parkinsonism & Related Disorders (2011)

Hélio A.G. Teive Ricardo Schmitt de Renato P. Munhoz Salmo Raskin D. Muzillo

Genotype-phenotype distinction

10.1016/s1353-8020(11)70802-1

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Wilson's disease in southern Brazil: a 40-year follow-up study

Clinics (2011)

Ricardo Schmitt de Dominique Araujo Muzzillo Marta Mitiko Deguti Egberto Reis Barbosa Lineu César Werneck

Long-term data on the clinical follow-up and the treatment effectiveness of Wilson's disease are limited because of the low disease frequency. This study evaluated a retrospective cohort of Wilson's disease patients from southern Brazil during a 40-year follow-up period. Thirty-six Wilson's disease patients, diagnosed from 1971 to 2010, were retrospectively evaluated according to their clinical presentation, epidemiological and social features, response to therapy and outcome. Examining the patients' continental origins showed that 74.5% had a European ancestor. The mean age at the initial symptom presentation was 23.3 ± 9.3 years, with a delay of 27.5 ± 41.9 months until definitive diagnosis. At presentation, hepatic symptoms were predominant (38.9%), followed by mixed symptoms (hepatic and neuropsychiatric) (30.6%) and neuropsychiatric symptoms (25%). Kayser-Fleischer rings were identified in 55.6% of patients, with a higher frequency among those patients with neuropsychiatric symptoms (77.8%). Eighteen patients developed neuropsychiatric features, most commonly cerebellar syndrome. Neuroradiological imaging abnormalities were observed in 72.2% of these patients. Chronic liver disease was detected in 68% of the patients with hepatic symptoms. 94.2% of all the patients were treated with D-penicillamine for a mean time of 129.9 ± 108.3 months. Other treatments included zinc salts, combined therapy and liver transplantation. After initiating therapy, 78.8% of the patients had a stable or improved outcome, and the overall survival rate was 90.1%. This study is the first retrospective description of a population of Wilson's disease patients of mainly European continental origin who live in southern Brazil. Wilson's disease is treatable if correctly diagnosed, and an adequate quality of life can be achieved, resulting in a long overall survival.

Wilson's disease

10.1590/s1807-59322011000300008

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Citations (44)

Wilson's disease in Southern Brazil: genotype-phenotype correlations and description of two novel mutations in ATP7B gene

Renato P. Munhoz Ricardo Schmitt de Salmo Raskin Dominique Araujo Muzzillo Marta Mitiko Deguti

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