Advanced Surface Ablation in a Patient With Suspect Topography: A Case Report.

The purpose of this clinical report is to describe a 10-year clinical outcome of advanced surface ablation with photorefractive keratectomy (PRK) in a patient who had been previously incorrectly diagnosed with keratoconus (KC). Corneal ectasia is a rare but extremely relevant complication of laser vision correction, and KC represents a major contraindication for these procedures. Nonetheless, some surface ablation procedures, such as PRK, might be a valid option for particular patients with atypical corneal topography or subclinical or mild forms of KC. Patient education and complete preoperative refractive multimodal imaging are essential for a more conscious therapeutic decision, minimizing iatrogenic ectasia, as well as decreasing the number of patients who are incorrectly denied refractive surgery, as was the patient presented in this study.

Chorioretinal Atrophic Lesions Evolution in Patients with Quiescent Myopic Choroidal Neovascularization Followed for More Than 10 Years.

Purpose: To evaluate the progression of chorioretinal atrophic areas associated with myopic choroidal neovascularization (CNV) in high myopic patients followed by a minimum period of 10 years. Patients and Methods: Patients with myopic CNV lesions that achieved clinical and structural remissions over 10 years of follow-up were included. Medical records were reviewed for CNV characterization and treatment, best-corrected visual acuity at baseline (BCVA0), immediately after the last treatment (BCVA1) and at the latest visit (BCVA2). Fundus autofluorescence (FAF) was used to quantify the amount of atrophic area increase per year associated with the treated myopic CNV lesion. The first FAF performed after treatment suspension (FAF1) was compared with the most recent exam (FAF2). Results: Thirty-six eyes from 36 patients were included. Mean total follow-up was 12.38 ± 2.68 years. Mean number of intravitreal injections (IVI) was 12.50 ± 12.40 and 25% of the eyes had previous treatment with photodynamic therapy (PDT). Mean improvement between BCVA0 and BCVA1 was 5.58 ± 15.98 letters (p < 0.001). However, a drop of 8.03 ± 12.25 letters was noticed between BCVA1 and BCVA2. FAF1 was 6.34 ± 4.92mm2 and increased to 9.88 ± 7.56mm2 (3.54 ± 3.79mm2 variation p < 0.001). The mean growth rate of the atrophic area was 0.89 ± 0.84mm2 per year. BCVA2 negatively correlated with FAF2 (k = -0.498, p = 0.002) being worse in patients with higher atrophic area growth rate (k = -0.341, p = 0.042). Eyes treated with PDT needed less IVI (5.89 ± 5.21 vs 14.70 ± 13.36, p = 0.008) but had larger FAF1 (9.80 ± 5.33 vs 5.19 ± 4.27, p = 0.013) and FAF2 (16.05 ± 7.10 vs 7.83 ± 6.63, p = 0.003). Hypothyroidism was associated with higher atrophy growth rate (1.55 ± 1.15 vs 0.73 ± 0.67, p = 0.016). Conclusion: This research demonstrates the importance of chorioretinal atrophy progression after myopic CNV lesions regression and its impact on visual prognosis, reporting a mean yearly growth of 0.89 mm2 in atrophic areas. Previous treatment with PDT and hypothyroidism were identified as risk factors associated with larger atrophic areas and worse visual outcomes.

Transepithelial Accelerated Crosslinking for Progressive Keratoconus: A Critical Analysis of Medium-Term Treatment Outcomes.

Purpose: To report the 4-year outcomes of transepithelial accelerated corneal collagen crosslinking (TE-ACXL) in the treatment of eyes with progressive keratoconus (KC). Methods: Eyes of patients who underwent TE-ACXL (6mW/cm2 for 15 minutes) for progressive KC and presented 48 months of follow-up were included. Corrected distance visual acuity (CDVA), keratometry measurements (Kmax, maximum keratometry, Kmean, mean keratometry and Astg, corneal astigmatism), thinnest corneal thickness (PachyMin), and topographic, and tomographic indices (specifically the posterior radius of curvature from the 3.0 mm centered on the thinnest point of the cornea (PRC), and the D-index) were analysed preoperatively and every 12 months after TE-ACXL, up to 48 months. Progression after TE-ACXL was considered when eyes presented ≥1 criteria: (1) increase of ≥1D in Kmax or increase of ≥0.75D in Kmean or increase of ≥1D in Astg; (2) reduction of ≥0.085 mm in PRC; (3) decrease ≥5% in PachyMin. Results: 41 eyes from 30 patients were included, with a mean age at crosslinking of 20.90±4.69 years. There was a significant increase in Kmean (+0.64±1.04 D, p<0.001; +0.98 ± 1.49 D, p<0.001; +1.27±2.01 D, p<0.001; +1.13±2.00 D, p=0.006) and a significant decrease in PRC throughout follow-up (-0.12±0.22, p=0.002; -0.15±0.24, p<0.001; -0.17±0.43, p=0.021; -0.16±0.43, p=0.027). PachyMin decreased significantly at 36 and 48 months (-8.50±15.93 µm, p=0.004; -7.82±18.37, p=0.033). According to our progression criteria, there was a major progression rate throughout follow-up (57.1%, 61.1%, 58.8%, and 67.9%, respectively). Surgery and follow-up were uneventful in all subjects. Eleven eyes (26.8%) required further procedures, ≥36 months after the initial TE-ACXL, due to persistent progressive disease. Conclusion: TE-ACXL proved to be a safe therapeutic option for progressive KC. However, its efficacy is deemed unsatisfactory, as a notable proportion of affected eyes may continue to advance within a 4-year timeframe, necessitating additional procedures to halt the disease's course.

Clinical outcomes and prognostic factors in Acanthamoeba keratitis.

PURPOSE: To report clinical findings and prognostic factors for visual and morphological outcomes in patients with Acanthamoeba keratitis (AK). METHODS: Single-center, retrospective, longitudinal study of 51 cases of AK diagnosed by real-time polymerase chain reaction (RT-PCR) between March 2010 and October 2022. The primary outcome was the final best corrected visual acuity (BCVA). Poor visual outcome was defined as a final BCVA ≥ 1 logMAR unit, while good visual outcome was defined as a final BCVA < 1 logMAR unit. Eyes from these two groups were compared, regarding demographic and initial clinical variables, anti-Acanthamoeba treatment used, and complications of the disease. Early diagnosis was defined as ≤ 14 days from symptom onset to diagnostic confirmation and initiation of Acanthamoeba medical treatment. Multivariable logistic regression was used to determine predictors of poor visual outcome. RESULTS: A total of 51 eyes from 46 patients diagnosed with AK, all contact lens (CL) wearers, were included in this study. Average follow-up was 39.0 ± 30.2 [total range 14-120] months. Thirty-one eyes (60.8 %) presented good visual outcome, with a lower baseline age (30.5 ± 9.0 vs. 42.3 ± 15.8; p = 0.020), better initial BCVA (0.8 ± 0.7 logMAR units vs. 1.3 ± 0.9 logMAR units; p = 0.047), higher rate of early diagnosis (45.2 % vs. 5.6 %; p = 0.004), and higher rate of therapeutic epithelial debridement (64.5 % vs. 10 %; p < 0.001). 20 eyes (39.2 %) presented poor visual outcome, with 12 eyes undergoing evisceration/enucleation (23.5 %). These 20 eyes presented a higher rate of complications (90 % vs. 61.3 %; p = 0.031). In multivariable analysis, early diagnosis of AK (OR 19.78; 95 % CI 2.07-189.11; p = 0.010) and therapeutic epithelial debridement (OR 19.02; 95 % CI 3.27-110.57; p = 0.001) were associated with a good visual outcome. CONCLUSIONS: In the present study, poor visual outcome was present in 39 % of affected eyes. Early AK diagnosis (≤14 days from symptom onset) and therapeutic epithelial debridement were associated with good final visual outcome.

Effect of Repeated Intravitreal Injections in Glaucoma Spectrum Diseases.

Purpose: To evaluate whether repeated intravitreal injections (IVI) with an anti-vascular endothelial growth factor (anti-VEGF) agent are associated with glaucomatous progression in eyes with glaucoma spectrum diseases (GSD). Methods: Single-center, retrospective, longitudinal study of patients with bilateral and similar GSD who: (1) received ≥8 IVI in only one eye during the study period; (2) had ≥2 retinal nerve fiber layer thickness (RNFL) measurements obtained by spectral-domain optical coherence tomography (SD-OCT) at least 12 months apart. The primary outcome was the absolute RNFL thickness change, comparing injected and fellow uninjected eyes. Linear mixed effects models were constructed, including a multivariable model. Results: Sixty-eight eyes from 34 patients were included, 34 injected and 34 fellow uninjected eyes. Average baseline age was 67.68±21.77 years with a follow-up of 3.66±1.89 years and 25.12±14.49 IVI. RNFL thickness decreased significantly from 80.92±15.78 to 77.20±17.35 µm (p<0.001; -1.18±1.93 µm/year) in injected eyes and from 79.95±17.91 to 76.61±17.97 µm (p<0.001; -1.07±0.98 µm/year) in uninjected eyes. In a multivariable linear mixed model of injected eyes, only higher baseline RNFL thickness (p < 0.001) significantly predicted higher absolute RNFL thickness loss. Neither absolute RNFL thickness variation (p=0.716) nor RNFL rate (p=0.779) was significantly different between paired injected and uninjected eyes. Absolute IOP variation was not significantly different between groups (16.62±4.77 to 15.09±4.34 mmHg in injected eyes and 17.68±5.01 to 14.50±3.39 mmHg in fellow uninjected eyes; p=0.248). The proportion of eyes receiving glaucoma medical treatment increased significantly in both groups (55.9% to 76.5% in injected eyes; p=0.039; 58.8% to 76.5% in uninjected eyes; p = 0.031). The number of glaucoma medications also increased significantly in both groups (1.03±1.11 to 1.59±1.18 glaucoma medications in injected eyes; p=0.003; 1.09±1.11 to 1.56±1.19 glaucoma medications in uninjected eyes; p=0.003). Conclusion: Repeated IVI do not seem to accelerate glaucomatous progression. Future studies with a longer follow-up are needed.

Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy.

The purpose of this clinical report was to describe a case of Cohen syndrome with its classical ophthalmological manifestations and novel VPS13B genetic variants. A 39-year-old Caucasian male patient with severe rod-cone retinal dystrophy and no history of parental consanguinity was referred to our ophthalmology department. Ophthalmologic history included high bilateral myopia and a 3-year prior bilateral cataract surgery. Systemic history included facial dysmorphism, intellectual disability, transient neutropenia, microcephaly, truncal obesity, and joint hyperextensibility. The patient presented classic fundoscopic features of pigmentary retinopathy in both eyes (OU). Optical coherence tomography (OCT) revealed bilateral central and diffuse retinal pigment epithelium (RPE) and outer retinal atrophy without concomitant macular edema, while fluorescein angiography (FA) demonstrated diffuse RPE atrophy with prominent choroidal vessels. The full-field ERG (ffERG) showed no dark-adapted or light-adapted responses and the P50 wave was not identified in the pattern ERG (pERG). The genetic study revealed two novel heterozygous variants in the VPS13B gene: (1) c.5138T>C p.(Leu1713Pro) and (2) c.10179del p.(Asn3393Lysfs*37), thus confirming the diagnosis of Cohen syndrome. This case report introduces these two novel genetic variants to the literature, in a patient with classic phenotypic characteristics of Cohen syndrome, a rare genetic disease which has been increasingly reported since its first description in 1973.

Role of Intestinal Ultrasound in the Evaluation of Postsurgical Recurrence in Crohn's Disease: Correlation with Endoscopic Findings.

Introduction: Endoscopy remains the exam of choice in the evaluation of activity in Crohn's disease (CD) after surgery (ACD-AS). However, intestinal ultrasound (IUS) may represent a noninvasive alternative. The objective of this study is to determine the diagnostic accuracy of this modality compared to endoscopy. Material and Methods: This is a cross-sectional study, comprising a period of 14 months, carried out in patients with established CD and ileocecal resection due to the disease. IUS (HI-VISION Avius®, Tokyo, Japan) was performed with linear probe B-mode/Doppler prior to ileocolonoscopy. IUS and ileocolonoscopy were performed on the same day by 2 specialists in Gastroenterology dedicated to ultrasound and inflammatory bowel disease, in a double-blind mode. Collected demographic and clinical data (Harvey-Bradshaw Index [HBI]; remission ≤4), serological/fecal inflammatory parameters (leukocytes [4-10 × 109 cells/L], C-reactive protein [≤0.5 mg/dL], and fecal calprotectin [<50 mg/kg]), endoscopy (Rutgeerts score: remission 3 mm and/or Limberg score >1) was abnormal in 61.5% (n = 24) of the cases. Endoscopic remission (Rutgeerts score

Introdução: A endoscopia permanece o exame de eleição na avaliação da atividade da Doença de Crohn (DC) póscirurgia (ADC-PC). No entanto, a ecografia dirigida à parede digestiva (Eco-PD) pode representar uma alternativa não-invasiva. O objetivo do trabalho é determinar a acurácia diagnóstica e concordância desta modalidade comparativamente à endoscopia. Materiais e métodos: Estudo transversal, compreendendo um período de 14 meses, efetuado a doentes com DC estabelecida e resseção ileocecal pela doença. Realizada Eco-PD (HI-VISION Avius®, Tokyo, Japan) com sonda linear em modo-B/Doppler previamente à ileocolonoscopia. A Eco-PD e ileocolonoscopia foram realizadas no mesmo dia por 2 especialistas dedicados a ecografia e doença inflamatória intestinal, de forma duplamente cega. Recolhidos dados demográficos, clínicos (índice Harvey-Bradshaw [HBI; remissão: ≤4]), parâmetros inflamatórios serológicos/fecais (leucócitos [4 < N < 10 × 109 células/L], proteína C reativa [≤0,5 mg/dL], calprotectina fecal [N <50 mg/kg]), endoscópicos (score Rutgeerts: remissão < i2) e ecográficos (espessamento [N ≤ 3mm] e vascularização da parede digestiva pelo score semi-quantitativo de Limberg [ausente = 0; escassa = 1; moderada = 2; marcada = 3]). Resultados: Incluídos 39 doentes (sexo feminino: 64,1%, idade média: 43,5 ± 15,3 anos). Seguimento mediano pós-cirurgia de 9 anos (IQR 9). Classificação Montreal: L1 61,5% (n = 24), L3 38,5% (n = 15), B1 e B2 28,2% (n = 11) e B3 43,6% (n = 17).A maioria estava em remissão clínica (87,2%; n = 34) com HBI médio de 2,1 ± 2,2. Vinte e dois doentes (56,4%) tinham marcadores inflamatórios dentro de parâmetros normais. A Eco-PD (espessamento parede intestinal >3 mm e/ou Limberg >1) foi anormal em 61,5% (n = 24). Remissão endoscópica (Rutgeerts < i2) em 53,8% (n = 21). Comparativamente à endoscopia, a Eco-PD (AUROC 0,75; p = 0,007) mostrou acuidade diagnóstica superior aos parâmetros inflamatórios (AUROC 0,66; p = 0,083) e clínica (AUROC 0,64; p = 0,139). A ecografia mostrou uma moderada concordância com a endoscopia (ĸ = 0,5; p = 0,001), superior aos parâmetros inflamatórios (ĸ = 0,33, p = 0,041) ou clínica (ĸ = 0,29, p = 0,01). Conclusões: A avaliação ecográfica da parede digestiva é uma técnica não invasiva que mostrou uma boa acuidade diagnóstica e uma concordância moderada com a endoscopia, superior à clínica e parâmetros inflamatórios serológicos/fecais.

Polycystic Ovary Syndrome in Adolescence: Challenges in Diagnosis and Management.

Diagnosing polycystic ovary syndrome (PCOS) during adolescence is challenging since normal pubertal development overlap typical features of this syndrome. The authors aim to summarize the existing evidence concerning PCOS in adolescence, particularly its diagnostic criteria and therapeutic options. A search throughout medical databases such as PubMed and MedScape was performed. Diagnostic criteria include irregular menstrual cycles according to time postmenarche and evidence of clinical hyperandrogenism and/or biochemical hyperandrogenism, provided other causes have been excluded. Polycystic ovarian morphology ought not to be used as a diagnostic criterion. Treatment should target manifestations and/or comorbidities, even in the absence of a definite diagnosis. Lifestyle interventions are the first-line treatment. Combined oral contraceptives, metformin or antiandrogens may also be considered as adjuvants. Screening for PCOS in adolescence is crucial as it allows an early intervention on the symptoms and comorbidities presented leading to better long-term reproductive and metabolic outcomes.

Diagnosticar a síndrome do ovário policístico (SOP) durante a adolescência é um desafio, uma vez que o desenvolvimento puberal normal se sobrepõe às características típicas desta síndrome. Os autores têm por objetivo resumir as evidências existentes sobre a SOP na adolescência, particularmente seus critérios diagnósticos e opções terapêuticas. Uma pesquisa em bases de dados médicas como PubMed e MedScape foi realizada. Os critérios de diagnóstico incluem ciclos menstruais irregulares de acordo com o tempo pós-menarca e evidência de hiperandrogenismo clínico e/ou hiperandrogenismo bioquímico, após exclusão de outras causas. A morfologia policística dos ovários não deve ser usada como um critério diagnóstico. O tratamento deve ser direcionado às manifestações e/ou comorbilidades, mesmo na ausência de um diagnóstico definitivo. As intervenções no estilo de vida são o tratamento de primeira linha. Contraceptivos orais combinados, metformina ou antiandrogênios também podem ser considerados como adjuvantes. O rastreamento da SOP na adolescência é fundamental, pois permite uma intervenção precoce ao nível dos sintomas e comorbilidades presentes levando a melhores resultados reprodutivos e metabólicos a longo prazo.

Polycystic Ovary Syndrome in Adolescence: Challenges in Diagnosis and Management / Síndrome do ovário policístico na adolescência: Desafios no diagnóstico e tratamento

Abstract Diagnosing polycystic ovary syndrome (PCOS) during adolescence is challenging since normal pubertal development overlap typical features of this syndrome. The authors aim to summarize the existing evidence concerning PCOS in adolescence, particularly its diagnostic criteria and therapeutic options. A search throughout medical databases such as PubMed and MedScape was performed. Diagnostic criteria include irregular menstrual cycles according to time postmenarche and evidence of clinical hyperandrogenism and/or biochemical hyperandrogenism, provided other causes have been excluded. Polycystic ovarianmorphology ought not to be used as a diagnostic criterion. Treatment should targetmanifestations and/or comorbidities, even in the absence of a definite diagnosis. Lifestyle interventions are the first-line treatment. Combined oral contraceptives, metformin or antiandrogens may also be considered as adjuvants. Screening for PCOS in adolescence is crucial as it allows an early intervention on the symptoms and comorbidities presented leading to better long-term reproductive and metabolic outcomes.

Resumo Diagnosticar a síndrome do ovário policístico (SOP) durante a adolescência é um desafio, uma vez que o desenvolvimento puberal normal se sobrepõe às características típicas desta síndrome. Os autores têm por objetivo resumir as evidências existentes sobre a SOP na adolescência, particularmente seus critérios diagnósticos e opções terapêuticas. Uma pesquisa em bases de dados médicas como PubMed e MedScape foi realizada. Os critérios de diagnóstico incluem ciclos menstruais irregulares de acordo com o tempo pós-menarca e evidência de hiperandrogenismo clínico e/ou hiperandrogenismo bioquímico, após exclusão de outras causas. A morfologia policística dos ovários não deve ser usada como um critério diagnóstico. O tratamento deve ser direcionado às manifestações e/ou comorbilidades, mesmo na ausência de um diagnóstico definitivo. As intervenções no estilo de vida são o tratamento de primeira linha. Contraceptivos orais combinados, metformina ou antiandrogênios também podem ser considerados como adjuvantes. O rastreamento da SOP na adolescência é fundamental, pois permite uma intervenção precoce ao nível dos sintomas e comorbilidades presentes levando a melhores resultados reprodutivos e metabólicos a longo prazo.

Persistent Peristomal Leakage from Percutaneous Endoscopic Gastrostomy Successfully Treated with Argon Plasma Coagulation.

INTRODUCTION: Percutaneous endoscopic gastrostomy is a safe and effective technique and its use is widely spread. Peristomal leakage may occur within the first few days after gastrostomy tube placement and also in the mature gastrostomy tract. The initial treatment involves conservative measures. If the leakage does not resolve, different endoscopic interventions could be necessary with consequent impairing of enteral nutrition and, in some cases, the need of creating a new gastro-cutaneous fistula. CASE REPORT: We present 4 consecutive cases complicated with late peristomal leakage and medical treatment failure. These patients underwent upper digestive endoscopy, and circumferential fulguration of the mucosa surrounding the tube with pulsed argon plasma coagulation (APC) at 50 W and 1 L/min flow rate was performed. Additional long through-the-scope clips were applied in 2 cases, since the inner orifice remained enlarged, in order to obtain a better closure. Complete leakage and skin changes resolution occurred between 2 and 6 weeks after the procedure (mean 3.5 weeks). The overall mean follow-up was 19 months after the endoscopic procedure (maximum 30 months, minimum 10 months). There was no recurrence of leakage. CONCLUSION: The use of APC alone or combined with long through-the-scope clips in large internal stoma orifice resolved persistent leakage from percutaneous endoscopic gastrostomy in all 4 presented cases without complications. In our case series, this technique appeared to be an effective, safe, and relatively low-cost alternative to the treatment of persistent peristomal leakage of the mature gastrostomy tract.

INTRODUÇÃO: A gastrostomia percutânea endoscópica é uma técnica amplamente usada sendo eficaz e segura. O extravasamento persistente é uma complicação possível do procedimento podendo ocorrer precocemente ou apresentar-se de forma tardia. O tratamento inicial passa por medidas conservadoras. Se o extravasamento persistir apesar das mesmas, várias intervenções endoscópicas podem ser necessárias com interrupção subsequente da nutrição entérica e nalguns casos pode ser mesmo necessário a criação de uma nova fístula gastro cutânea. APRESENTAÇÃO DOS CASOS: Relato de quatro casos consecutivos complicados com extravasamento persistente tardio e com falência ao tratamento conservador. A todos os doentes foi realizada uma endoscopia digestiva alta com fulguração circunferencial com coagulação árgon-plasma (APC) a 50 Watts e fluxo 1L/min. Adicionalmente, em dois casos por presença de orifício interno de grandes dimensões foram aplicados clips longos de modo a obter melhor aproximação dos bordos. Foi conseguida resolução completa do extravasamento e consequentemente das alterações cutâneas em 2 a 6 semanas (média 3,5 semanas). O seguimento após o procedimento foi de 19 meses (máximo 30 meses, mínimo 10 meses). Não se verificaram recorrências do extravasamento. CONCLUSÃO: O uso de APC isoladamente ou em combinação com clips longos nos casos de orifício interno de grandes dimensões resolveu o extravasamento persistente após PEG nos quatro doentes sem registo de complicações. Na nossa série, esta técnica parece ser uma alternativa efetiva, segura e de relativo baixo custo para o tratamento do extravasamento persistente tardio.

Ulcerative Colitis: Are We Neglecting Its Progressive Character.

INTRODUCTION: Ulcerative colitis (UC) is a chronic disease but its progressive character, with structural damage, is insufficiently studied. OBJECTIVES: To analyze a group of patients without referral bias, regarding its clinical course, the morphological damage, and functional status. METHODS: We evaluated UC patients diagnosed between January 1, 2000 and December 31, 2004, living in the direct referral area of the hospital and determined the medication use, colectomy rate, structural damage ("lead pipe," stenosis, pseudopolyps, fibrous bridges), and anorectal function (prospective evaluation with the Cleveland Clinic Incontinence Score [CCIS] and the Fecal Incontinence Quality of Life Scale). RESULTS: We identified 104 patients, 47% female, with a mean age at diagnosis of 38 ± 17 years, 24% with proctitis, 57% with left colitis, and 19% with pancolitis. In 3 patients, it was not possible to obtain follow-up data. Of the studied patients, 56% needed corticosteroid therapy, 38% immunosuppressants, and 16% anti-tumor necrosis factors (anti-TNFs). After a mean follow-up of 13 ± 2 years, we found structural damage in 25 patients (24%): 5% with proctocolectomy, 15% with "lead pipe," 16% with pseudopolyps, and 3% with stenosis and fibrous bridges. Reference to functional anorectal disorders was identified in 49%, mostly previous and self-limited episodes of incontinence, but including persistent incontinence in 10% (CCIS 8 ± 4.8). There was an increased incidence of structural damage and anorectal dysfunction in patients who needed corticosteroid therapy (p = 0.001), immunosuppressants (p < 0.001), and anti-TNFs (p = 0.002) and an association of structural damage with anorectal dysfunction (p < 0.001). There was no association between age and anorectal dysfunction, including incontinence episodes. CONCLUSIONS: UC is a disease with structural and functional consequences in a significant subset of patients. This should be incorporated when defining the therapeutic strategy.

INTRODUÇÃO: A colite ulcerosa (CU) é uma doença crónica mas o seu carácter progressivo, com danos estruturais, encontra-se insuficientemente estudado. OBJETIVOS: Analisar um grupo de doentes, sem viés de referenciação, quanto ao percurso clínico, aos danos morfológicos e ao estado funcional. MÉTODOS: Avaliaram-se os doentes com diagnóstico de CU estabelecido entre 01-01-2000 e 31-12-2004, com residência na área de referenciação directa do hospital, tendo-se determinado a medicação usada, a taxa de colectomia, os danos estruturais ("cano de chumbo", estenoses, pseudopolipos, pontes fibrosas) ou funcionais ano-rectais (avaliação prospectiva com Cleaveland Clinic Incontinence Score, CCIS e Fecal Incontinence Quality of Life, FIQL). RESULTADOS: Identificaram-se 104 doentes, 47% do sexo feminino, idade média no diagnóstico de 38 ± 17 anos, proctite 24%, colite esquerda 57%, pancolite 19%. Em 3 doentes não foi possível obter dados de seguimento. Dos doentes estudados 56% tiveram necessidade de corticoterapia, 38% de imunossupressores e 16% de anti-TNFs. Após um seguimento médio de 13 ± 2 anos, encontraram-se danos estruturais em 25 doentes (24%), protocolectomia em 5%, "cano de chumbo" 15%, pseudopolipos 16% e estenoses e pontes fibrosas 3%. Verificamos referência a disfunção ano-rectal em 49% (maioritariamente episódios prévios e autolimitados de incontinência) mas incluindo incontinência persistente em 10% (CCIS 8 ± 4.8). Verificou-se uma incidência aumentada de danos estruturais e disfunção ano-rectal nos doentes com necessidade de corticoides (p = 0.001), imunossupressores (p < 0.001) e anti-TNF (p = 0.002) e uma relação entre os danos estruturais e a disfunção ano-rectal (p < 0.001). Não existiu associação entre a idade e a disfunção ano-rectal, incluindo episódios de incontinência. CONCLUSÕES: A CU é uma doença com consequências estruturais e funcionais num subgrupo significativo de doentes. Este facto deve ser integrado na definição da estratégia terapêutica.© 2017 Sociedade Portuguesa de Gastrenterologia Publicado por S. Karger AG, Basel.

Evaluation of skills acquisition using a new low-cost tool for CPR self-training.

BACKGROUND: High-quality cardiopulmonary resuscitation (CPR) remains essential to improve the outcome of patients in sudden cardiorespiratory arrest. Feedback on performance is a crucial component of the learning processes associated with simulation and has been shown to improve CPR quality during simulated cardiac arrest on mannequins. This study aims to evaluate skills acquisition using a new low-cost feedback device for CPR self-training when compared to standard training methods. METHODS: Thirty-nine pregraduated medical and biomedical engineering students were recruited for a longitudinal double-blinded randomized control study. For training Basic Life Support skills, the control group used a standard task-trainer and received feedback from an instructor. The intervention group used the same standard task-trainer, instrumented with the CPR Personal Trainer that provided automated performance feedback (with no instructor) on compression-related parameters. Students' knowledge and skills were assessed before and after training, through a theoretical knowledge test and 2 minutes of CPR practical performance. RESULTS: The theoretical tests showed an improvement both in the intervention and in the control group. For each compression-related parameters (hands position, recoil, rate, and depth), significant increase in scores is observed, between the pre- and the post-test, in both groups. The intervention and control groups presented identical mean differences for the total score (0.72 vs 0.72), with no statistical difference (P = 0.754). CONCLUSIONS: The proposed tool proved to be effective in the acquisition of compression-related skills, with similar outcomes as the traditional instructor-based method, corroborating the hypothesis that a low-cost tool with feedback for CPR self-training can provide an alternative or a complementary extension to traditional training methods. The system can also be considered cost-efficient as it reduces the permanent presence of an instructor for the chest compressions training, promoting regular training outside formal training courses.

Characterization of all Surgical Specimens Provided by a Portuguese Department of Ophthalmology over a 13 Year Period.

INTRODUCTION: We intend to evaluate clinically, topographically and morphologically all surgical specimens sent by the Department of Ophthalmology of Hospital de Braga to the Department of Pathology of the same hospital. MATERIAL AND METHODS: Two hundred and fifty eight surgically obtained specimens, from the Department of Ophthalmology of Hospital de Braga, analyzed in the Department of Pathology, from January 2002 to June 2015, were characterized. Data was arranged according to year, age, sex, topography and morphological diagnosis according to the SNOMED® coding system. RESULTS: Mean age at time of diagnosis was 54.6 years old; 52.3% were male subjects. The number of specimens was relatively stable until the year 2010, with a significant increase between 2011 and 2013. Most specimens sent corresponded to eyelid (54.7%), followed by conjunctiva (26.7%); the most common pathological diagnosis was malignant epithelial lesions (22.48%), followed by melanocytic tumours (22.09%) and benign epithelial lesions (17.05%). DISCUSSION: The results are distinct from previous publications presumably because of differences between the populations submitted to analysis. CONCLUSION: This is the first indexed publication characterizing surgical specimens from a Department of Ophthalmology in Portugal; moreover, it also includes an extensive review of global epidemiological data about ophthalmic surgical specimens.

Introdução: Pretende-se avaliar clínica, topográfica e morfologicamente todos as amostras biológicas enviadas pelo Serviço de Oftalmologia do Hospital de Braga para o Serviço de Anatomia Patológica do mesmo Hospital. Material e Métodos: Duzentas e cinquenta e oito amostras biológicas obtidas cirurgicamente pelo Serviço de Oftalmologia do Hospital de Braga e analisadas pelo Serviço de Anatomia Patológica (Hospital de Braga), no período de janeiro de 2002 a junho de 2015. Os dados foram organizados de acordo com o ano, idade, sexo, topografia e diagnóstico patológico de acordo com sistema de codificação SNOMED®. Resultados: A idade média dos doentes à altura do diagnóstico foi de 54,6 anos, sendo 52,3% destes indivíduos do sexo masculino. O número de amostras oscilou pouco até ao ano 2010, verificando-se um aumento importante entre 2011 e 2013. A maioria das amostras biológicas enviadas foi de pele de pálpebra (54,7%), seguida de conjuntiva (26,7%); os diagnósticos morfológicos mais comuns foram as lesões epiteliais malignas (22,48%), seguido pelos tumores melanocíticos (22,09%) e as lesões epiteliais benignas (17,05%). Discussão: Os resultados são distintos das publicações anteriores, presumivelmente devido a diferenças entre as populações analisadas. Conclusão: Esta é a primeira publicação indexada caracterizando as amostras biológicas de um Serviço de Oftalmologia em Portugal; além disso, inclui uma extensa revisão de dados epidemiológicos sobre amostras biológicas oftalmológicas a nível global.

Endoscopic management of afferent loop syndrome caused by enteroliths and anastomotic stricture. A case report

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A Pediatric Case of Cowden Syndrome with Graves' Disease.

Cowden syndrome (CS) is a rare dominantly inherited multisystem disorder, characterized by an extraordinary malignant potential. In 80% of cases, the human tumor suppressor gene phosphatase and tensin homolog (PTEN) is mutated. We present a case of a 17-year-old boy with genetically confirmed CS and Graves' disease (GD). At the age of 15, he presented with intention tremor, palpitations, and marked anxiety. On examination, he had macrocephaly, coarse facies, slight prognathism, facial trichilemmomas, abdominal keratoses, leg hemangioma, and a diffusely enlarged thyroid gland. He started antithyroid drug (ATD) therapy with methimazole and, after a 2-year treatment period without achieving a remission status, a total thyroidectomy was performed. Diagnosis and management of CS should be multidisciplinary. Thyroid disease is frequent, but its management has yet to be fully defined. The authors present a case report of a pediatric patient with CS and GD and discuss treatment options.

Refractory Celiac Disease Type II: A Case Report that Demonstrates the Diagnostic and Therapeutic Challenges.

Refractory celiac disease is an uncommon but serious complication of celiac disease. We describe a case of a severe refractory celiac disease type II, complicated with ulcerative jejunoileitis, in a 68 years old female, unresponsive to consecutive treatments with budesonide, prednisolone, cladribine and autologous stem cell transplantation. The patient maintained severe malnutrition, advanced osteoporosis, anaemia, vitamin deficiencies and hydro-electrolytic imbalances, necessitating consecutive hospitalizations for total parenteral nutrition. The patient also developed life-threatening complications, namely respiratory and urinary septic shock and also episodes of haemorrhagic shock secondary to ulcerative jejunoileitis. The progression to enteropathy associated T-cell lymphoma was never demonstrated, but the patient died 7 years after the diagnosis due to a septic shock secondary to a nosocomial pneumonia and osteomyelitis related to a spontaneous hip fracture. This case highlights the difficulties in the diagnostic process, therapeutic management and surveillance of this rare condition associated with very poor prognosis.

A doença celíaca refratária é uma complicação rara mas muito severa da doença celíaca. Apresentamos o caso de uma doente de 68 anos, com doença celíaca refratária tipo II complicada de jejunoileíte ulcerativa, que não respondeu a tratamentos sucessivos com budesonido, prednisolona, cladribina e transplante autólogo de medula óssea. A doente manteve desnutrição e osteoporose severas, deficiências vitamínicas e desequilíbrios hidro-eletrolíticos, necessitando de múltiplas hospitalizações para receber nutrição parentérica total. Também desenvolveu diversas complicações potencialmente fatais nomeadamente sépsis com origem respiratória e urinária e choque hemorrágico secundário à jejunoileíte ulcerativa. Contudo, nunca se demonstrou a presença de um linfoma de células T. A doente faleceu 7 anos após o diagnóstico devido a choque sético secundário a pneumonia nosocomial e osteomielite relacionada com fratura espontânea da anca. Este caso ilustra as dificuldades sentidas no decurso do diagnóstico, terapêutica e vigilância desta entidade clínica rara, a qual está associada a um péssimo prognóstico.

Intestinal ganglioneuromatosis: an unusual aetiology for occult gastrointestinal bleeding.

Intestinal ganglioneuromatosis is a rare disorder of the enteric nervous system. It is often associated with neurofibromatosis type 1 and multiple endocrine neoplasia type 2b but, more rarely, it can present in a sporadic and isolated form. A 66-year-old man presented with a 14-year history of iron deficiency anaemia, with no visible bleeding, requiring occasional blood transfusions. Haematological causes of anaemia were thoroughly excluded, and conventional endoscopic and radiological examinations showed no lesions. Capsule enteroscopy identified an ulcerated stenosis in the small bowel, but the biopsies taken at balloon enteroscopy were inconclusive. The patient underwent a laparotomy, which revealed a stiff and ulcerated stenosis in the ileum. Histological analysis demonstrated the presence of diffuse intestinal ganglioneuromatosis. Three years after surgery, the patient is asymptomatic, with normal haemoglobin levels. This case demonstrates an isolated form of intestinal ganglioneuromatosis, with an atypical presentation, difficult to diagnose despite an exhaustive evaluation.

Left-Sided Portal Hypertension: A Sinister Entity.

INTRODUCTION: Sinistral, or left-sided, portal hypertension (SPH) is a rare entity, with multiple potential causes. Gastrointestinal variceal bleeding and hypersplenism are its' major clinical manifestations. The main aim of the present study is to summarize the clinical features of patients with SPH. PATIENTS AND METHODS: This was a retrospective analysis of consecutive patients with present or previous diagnosis of SHP, observed in a Gastroenterology Department, in a period of 2 years. Patients with clinical, radiological or laboratory alterations suggestive of cirrhosis were excluded. Causes of SPH, clinical manifestations and outcomes were registered. Potential factors associated with gastrointestinal bleeding were analyzed. RESULTS: In the study period a total of 22 patients (male - 17; mean age - 59.6 ± 10.6 years) with SHP were included. Clinical manifestations were: asymptomatic/unspecific abdominal pain (n = 14); gastrointestinal bleeding (n = 8). Eleven (50%) patients had increased aminotransferases, GGT and/or alkaline phosphatase although liver function was normal in all of them. Causes of SPH were chronic pancreatitis (n = 7), acute pancreatitis (n = 7), pancreatic cancer (n = 4), pancreatic surgery (n = 3) and arteriovenous malformation (n = 1). All patients had gastric and/or esophageal varices and seven had splenomegaly. Five (22.7%) had thrombocytopenia, associated with hypersplenism. Five patients (22.7%) were submitted to endoscopic treatment and eight were submitted to splenic artery embolization and/or splenectomy. There were no cases of variceal rebleeding and two patients died. Patients without liver enzymes elevation had a higher probability of gastrointestinal bleeding (87.5% vs. 28.6%; p = 0.024). CONCLUSIONS: Acute and chronic pancreatitis are the major causes of SHP. Gastrointestinal bleeding is the most important clinical manifestation and patients without liver enzyme elevation seem more prone to bleed. Specific treatment is seldom performed or needed.

INTRODUÇÃO: A hipertensão portal esquerda ou sinistra (HTPS) é uma entidade rara, que pode resultar de diferentes etiologias. A hemorragia gastrointestinal de origem varicosa e o hiperesplenismo são as principais manifestações clínicas. O principal objetivo do presente estudo consiste em estabelecer os achados clínicos mais relevantes num grupo de doentes com HTPS. DOENTES E MÉTODOS: Foi efetuada uma análise retrospetiva de um grupo consecutivo de doentes com HTPS diagnosticados ou acompanhados no serviço de Gastrenterologia durante o período de 2 anos. Os doentes com estigmas clínicos, radiológicos ou laboratoriais sugestivos de cirrose hepática foram excluídos. Foram registadas as etiologias, manifestações clínicas, tratamentos e evolução. Também foram analisados potenciais fatores associados com hemorragia digestiva como forma de apresentação. RESULTADOS: Neste período foram incluídos 22 doentes (sexo masculino ­ 17; média etária ­ 59,6 ± 10,6 anos). As manifestações clínicas foram: assintomático/dor abdominal inespecífica (n = 14); hemorragia gastrointestinal (n = 8). A função hepática era normal em todos os doentes mas 11 (50%) apresentavam uma elevação da enzimologia hepática (aminotransferases, GGT e/ou fosfatase alcalina). As principais etiologias da HTPS foram a pancreatite crónica (n = 7), a pancreatite aguda (n = 7), os carcinomas pancreáticos (n = 4), as cirurgias pancreáticas prévias (n = 3) e uma malformação arterio-venosa (n = 1). Foram identificadas varizes gástricas e/ou esofágicas em todos os doentes e 7 apresentavam esplenomegália. A trombocitopenia, associada ao hiperesplenismo, estava presente em 5 doentes (22,7%). Cinco doentes foram submetidos a tratamento endoscópico e oito foram sujeitos a embolização da artéria esplénica e/ou esplenectomia. Não se verificaram casos de recidiva hemorrágica e ocorreram duas mortes. Os doentes sem alterações da enzimologia hepática foram os mais propensos a apresentar hemorragia gastrointestinal (87,5% vs. 28,6%; p = 0,024). CONCLUSÕES: A pancreatite aguda e a pancreatite crónica são as principais causas da HTPS. A hemorragia gastrointestinal é a manifestação clínica mais relevante e os doentes sem alterações da enzimologia hepática parecem apresentar um risco superior para desenvolver esta complicação. O tratamento específico raramente é necessário/realizado.

Ileal intussusception due to a parasite egg: a case report.

Ileal intussusception is the invagination of the small intestine within itself and accounts for 1% of cases of acute obstruction. However, physicians do not initially consider intussusception as a possible diagnosis of obstruction due to its rarity in adults. Herein, we report the case of a 22-year-old male who was admitted to the Emergency Department with continuous abdominal pain. Ultrasonography and computed tomography revealed an ileal intussusception. The patient underwent surgical removal of the segment of the small bowel. Unexpectedly, pathology revealed that the invagination occurred due to a parasite egg, with features suggestive of Schistosoma species. Schistosomiasis, although considered a parasitic disease in tropical countries, is not absent from Europe and though it is highly improbable, it may be responsible for cases of intussusception in adults.