Genetic testing for inherited ocular conditions in a developing country.

Background: Inherited ocular conditions are a frequent cause of blindness. Gene therapy has encouraged the development of genetic testing, currently able to detect up to 80% of mutations in contrast to the 5% sensitivity achieved a few decades ago.Materials and methods: One hundred sixty-three patients with suspected genetic ocular disorders who were referred to a single clinician between August 2014 and August 2019 underwent a thorough ophthalmologic examination. Those diagnosed with congenital cataract, retinoblastoma, anterior segment dysgenesis, autoimmune retinal disease, posterior microphthalmia, or cobalamin C deficiency were excluded, along with patients who opted against genetic testing. Included probands were classified into a diagnostic clinical category and offered genetic testing. Blood samples were sent to foreign accredited diagnostic laboratories, followed by clinical interpretation of the results.Results: Of the 163 patients referred, 104 were enrolled in the study. Median age at disease onset was 2 years (range, 0 to 43 years). A molecular diagnosis was established at a median age of 10 years (range, 0.4 to 50 years). Disease-causing genotypes were identified in 82 of the probands, indicating a mutation detection rate of 78.8%. Mutations were identified in 38 genes, ABCA4 being the most commonly affected (23% of mutations), followed by CRB1 (13% of mutations). Whole-exome sequencing was performed in 6 patients, resulting in a definite diagnosis in 3 (50%).Conclusions: Molecular testing for inherited ocular conditions is feasible in developing countries by sending samples to certified foreign laboratories, with a mutation detection rate comparable to published values in developed countries. Further studies to identify more disease-causing genes may improve the overall sensitivity.

Esotropia surgery in children with Down syndrome.

PURPOSE: To evaluate postoperative alignment in children with and without Down syndrome after surgical correction of esotropia. METHODS: The medical records of consecutive patients with Down syndrome who underwent corrective surgery for esotropia between August 1992 and July 2012 were retrospectively reviewed. Age range for eligibility was between 8 months and 17 years at surgery. The control group comprised randomly selected, age-matched patients without Down syndrome who underwent the same surgical procedure. Postoperative alignment within 10(Δ) of orthotropia at 6 months' follow-up and at the final postoperative visit was considered a successful outcome. RESULTS: A total of 17 children with Down syndrome and 27 control subjects were included. The control group and Down syndrome group did not differ significantly in either postoperative follow-up (5.2 ± 3.2 versus 5.6 ± 5.2 years, respectively) or magnitude of deviation before surgery (40 ± 18.2(Δ) versus 39 ± 12.8(Δ), respectively). Surgical success was achieved in 76% of patients with Down syndrome and in 85% of control patients at 6 months' follow-up. CONCLUSIONS: In this patient cohort, good surgical outcomes were achieved in children with esotropia and Down syndrome compared with those with esotropia but without Down syndrome using the same surgical technique.

Resultados del tratamiento de la hepatitis crónica por virus C en un hospital público, en Chile / Results of chronic hepatitis C treatment in a public hospital

Background: Chronic hepatitis C is an important health problem in Chile. In 2005, the Ministry of Health started a pilot treatment program with peg interferon and ribavirin, to be developed in public hospitals all over the country. Aim: To report the results ofhepatitis C treatment obtained at our institution. Patients and Methods: Between 2005 and 2009, 63 patients were referred for treatment. In all, the viral load and genotype were determined. Peg interferon alpha-2a or alpha-2b plus ribavirin were used for therapy for up to 48 weeks in genotypes (G) 1 or 4 or 24 weeks in genotypes 2 or 3. If at the end oftreatment, viral load measured by polymerase chain reaction (PCR) was negative, it was repeated 6 months later. A negative viral load at that time was considered a sustained viral response (SVR). Results: Among the 51 patients who started treatment, 42 (80.4%) were G1,1 was G2,1 was G4 and 7 were G3. A SVR was reached in 51.1% ofG 1 and 4 and in 87.5% in G 3 and 2. In a univariate analysis, the variables significantly associated with a positive viral response were the degree offibrosis and body mass index. Conclusions: These results are similar to those obtained in other international series, demonstrating that Hispanic ethnicity does not influence the response to treatment. Our good results could be explained by the excellent compliance of the patients to the treatment. A higher degree offibrosis and a higher BMI were associated with a poor response.

Frequent Evaluation To Improve Compliance In Patients Treated With Occlusion For Amblyopia: A Randomized controlled Trial.

BACKGROUND: The benefits of occlusion treatment for amblyopia are well established.True compliance can be difficult to assess and is usually based on patient history. We hypothesize that more visits to the physician provides more chances to improve compliance. METHODS: We conducted a prospective, comparative, blind trial in which 30 children with amblyopia were randomly assigned to be followed up more frequently (every 4 to 6 weeks) (study group) or as established on our standard regular basis (month intervals based on age in years) (control group). The primary outcome was to study differences in treatment compliance between these groups. The secondary outcome was to report compliance in a group of Chilean children and to compare survey results with adherence, to assess concordance between them. RESULTS: Baseline clinical characteristics were similar in the two groups. 30 patients were recruited. Mean compliance for all patients was 82%. Study group compliance was 83% versus 76% in control group (p = 0.5). Without epidemiology, intention to treat analysis (ITT), study group compliance was 97% compared to 76% in control group (p = 0.049). Pearson correlation between negative responses to a parental survey after treatment, of the percentage of adherence and compliance, was -0.57 and statistically significant (p = 0.013). CONCLUSIONS: There were no differences in patient compliance comparing more frequent evaluation versus a follow up evaluation based in an age according scheme. There is a high compliance to occlusion therapy in this group of Chilean children. If parents reported more negative adherence aspects in the survey, the worse the compliance.

[Results of chronic hepatitis C treatment in a public hospital]. / Resultados del tratamiento de la hepatitis crónica por virus C en un hospital público, en Chile.

BACKGROUND: Chronic hepatitis C is an important health problem in Chile. In 2005, the Ministry of Health started a pilot treatment program with peg interferon and ribavirin, to be developed in public hospitals all over the country. AIM: To report the results of hepatitis C treatment obtained at our institution. PATIENTS AND METHODS: Between 2005 and 2009, 63 patients were referred for treatment. In all, the viral load and genotype were determined. Peg interferon alpha-2a or alpha-2b plus ribavirin were used for therapy for up to 48 weeks in genotypes (G) 1 or 4 or 24 weeks in genotypes 2 or 3. If at the end of treatment, viral load measured by polymerase chain reaction (PCR) was negative, it was repeated 6 months later. A negative viral load at that time was considered a sustained viral response (SVR). RESULTS: Among the 51 patients who started treatment, 42 (80.4%) were G1,1 was G2,1 was G4 and 7 were G3. A SVR was reached in 51.1% of G 1 and 4 and in 87.5% in G 3 and 2. In a univariate analysis, the variables significantly associated with a positive viral response were the degree of fibrosis and body mass index. CONCLUSIONS: These results are similar to those obtained in other international series, demonstrating that Hispanic ethnicity does not influence the response to treatment. Our good results could be explained by the excellent compliance of the patients to the treatment. A higher degree of fibrosis and a higher BMI were associated with a poor response.

[Association between varioliform gastritis and cirrhosis]. / Gastritis varioliforme y daño hepático crónico: Una inesperada asociación.

BACKGROUND: Varioliform gastritis (VG) is found in approximately 0.3 to 2.8% of upper gastrointestinal endoscopies. Its etiology is not known. We have observed a higher frequency of VG in patients with liver cirrhosis. AIM: To confirm if there is an association between VG and liver cirrhosis. PATIENTS AND METHODS: Two case-control studies were done. A retrospective study, reviewing the endoscopy database of a gastroenterological unit. A prospective study, identifying cases with the endoscopic diagnosis of VG among all patients referred for upper gastrointestinal endoscopies. The presence of liver cirrhosis, based on clinical, laboratory, ultrasonographic and endoscopic features was registered among patients with VG. RESULTS: VG was found in 549 of 11.659 upper gastrointestinal endoscopies. Fourteen percent of patients with VG had cirrhosis compared to 5.6% in control patients (c² 29,8; p < 0.01). The odds ratio (OR) for having cirrhosis of patients with VG was 9.3 (95% confidence intervals 3.4-25.5, p < 0,01), according to a logistic regression analysis. In the prospective study, that included 1.498 upper gastrointestinal endoscopies, VG was also significantly more common among patients with liver cirrhosis. CONCLUSIONS: A higher frequency of VG was found among patients with liver cirrhosis. Therefore, the endoscopic finding of VG should alert physicians to look for the presence of a coexistent liver cirrhosis.

Gastritis varioliforme y daño hepático crónico: Una inesperada asociación / Association between varioliform gastritis and cirrhosis

Background: Varioliform gastritis (VG) is found in approximately 0.3 to 2.8 percent of upper gastrointestinal endoscopies. Its etiology is not known. We have observed a higher frequency of VG in patients with liver cirrhosis. Aim: To confirm if there is an association between VG and liver cirrhosis. Patients and Methods: Two case-control studies were done. A retrospective study, reviewing the endoscopy database of a gastroenterological unit. A prospective study, identifying cases with the endoscopic diagnosis of VG among all patients referred for upper gastrointestinal endoscopies. The presence of liver cirrhosis, based on clinical, laboratory, ultrasonographic and endoscopic features was registered among patients with VG. Results: VG was found in 549 of 11.659 upper gastrointestinal endoscopies. Fourteen percent of patients with VG had cirrhosis compared to 5.6 percent in control patients (c² 29,8; p < 0.01). The odds ratio (OR) for having cirrhosis of patients with VG was 9.3 (95 percent confidence intervals 3.4-25.5, p < 0,01), according to a logistic regression analysis. In the prospective study, that included 1.498 upper gastrointestinal endoscopies, VG was also significantly more common among patients with liver cirrhosis. Conclusions: A higher frequency of VG was found among patients with liver cirrhosis. Therefore, the endoscopic finding of VG should alert physicians to look for the presence of a coexistent liver cirrhosis.

[Accomodation process: ABO-incompatible liver transplantation. Report of one case]. / Fenómeno de acomodación inmunológica: trasplante hepático ABO incompatible. Caso clínico.

We report a 33 year-old female with a diagnosis of halothane-induce fulminant hepatic failure who was subjected to a liver transplant with an ABO-incompatible graft. The patient received a therapeutic protocol that included total plasma exchange, splenectomy and quadruple immunosuppression. After 5 years, the patient remains asymptomatic and with normal liver enzymes, while she has been treated with low dose of immunosuppressive drugs. This case demonstrates an example of how the immunological process of accommodation opens the possibility of using ABO-incompatible organs as a definitive grafts.

Fenómeno de acomodación inmunológica: Trasplante hepático ABO incompatible. Caso clínico / Accomodation process: ABO-incompatible liver transplantation. Report of one case

We report a 33 year-old female with a diagnosis of halothane-induce fulminant hepatic failure who was subjected to a liver transplant with an ABO-incompatible graft. The patient received a therapeutic protocol that included total plasma exchange, splenectomy and quadruple immunosuppression. After 5 years, the patient remains asymptomatic and with normal liver enzymes, while she has been treated with low dose of immunosuppressive drugs. This case demonstrates an example of how the immunological process of accomodation opens the possibility of using ABO-incompatible organs as a definitive grafts.

Manejo del estrabismo en el alto miope / Management of strabismus in high myopia

Se analiza un grupo de 12 personas con estrabismo asociado a alta miopía, en términos de su presentación clínica, cirugía realizada y sus resultados. En 7 de éstos pacientes se realizó un tipo de unión entre los músculos rectos superior y lateral (técnica de Yokohama), pero se consideraron diferentes enfoques quirúrgicos sobre el recto medio. Se obtuvieron buenos resultados en la mayoría de los casos, observándose solamente 2 casos que requirieron reoperación.

A group of 12 patients with strabismus associated to high myopia is analyzed in terms of clinical presentation, surgery performed and its results. In 7 of these patients a type of muscular union between superior and lateral rectus (Yokoyama's technique) was done, but different approaches to the medial rectus were considered. Good results were obtained in most cases with only 2 patients requiring reoperations.

Estrabismo en orbitopatía / Strabismus in orbitopathy

Introducción: la fibrosis y contractura muscular determina la aparición de un estrabismo restrictivo. Objetivo: describir aspectos clínicos-radiológicos y resultados quirúrgicos en una serie de pacientes. Materiales y métodos: estudio retrospectivo de 22 pacientes operados en 2 centros clínicos entre 1990 y 2005 con tabulación de datos clínicos, mediciones en 9 posiciones, ducciones, resultados quirúrgicos y complicaciones. Además análisis doble-ciego clínico radiológico. Resultados: mayor prevalencia en mujeres (88 por ciento), (x) edad 57 años, síntoma inicial diplopia (100 por ciento). Compromiso muscular RI (72 por ciento), RM (63 por ciento), RS (22 por ciento), RL (9 por ciento). Grupos más frecuentes: RM bilateral (18.2 por ciento) y RI unilateral (16 por ciento). Resultado postoperatorio excelente (sin diplopia) 75 por ciento, satisfactorio (sin diplopia con prismas) 23 por ciento y malo (diplopia permanente) 2 por ciento. Correlación clínico-radiológica exacta (45 por ciento) y del principal músculo afectado (100 por ciento. Complicaciones: 33 por ciento ptosis palpebral inferior y 9.5 por ciento neuropatía óptica compresiva. Conclusión: el manejo estrabológico adecuado en orbitopatía de graves otorga en un alto porcentaje una mejoría de sus síntomas y mejor calidad de vida.

Introduction: fibrosis and muscular contracture results in restrictive strabismus. Objective: describe clinical-radiological features and surgery results in a group of patients. Methodology: retrospective study of 22 surgical patients treated in 2 ophthalmology institutes between 1990 and 2005. Ciinical data, 9 positions and duction study, surgical results and finally incidence of complications were all assesed. Also a double-blind clinical-radiological correlation was performed. Results: female were more affected (88 percent), mean age 57 years, initial sympton was diplopia en every case. Muscle involvement IR (72 percent), MR (63 percent), SR (22 percent), LR (9 percent). Most frequently muscle associations: both MRs (18.2 percent) and unilateral IR (16 percent). Postoperative results: excellent (diplopia free) 75 percent, satisfactory (diplopia corrected with prisms) 23 percent, bad (persistent diplopia) 2 percent. Exact clinical-radiological correlation (45 percent), mayor affected muscles correlation (100 percent). Complications: inferior palpebral ptosis (33 percent) and comprenssive optic neuropathy. Conclusions: adequate strabismus management in graves orbithopathy gives the patient symptomatic relief and better life quality in a high percentage of cases.

[Effects of acute octreotide infusion on renal function in patients with cirrhosis and portal hypertension]. / Efectos de la infusión aguda de octreotido sobre la función renal en pacientes con cirrosis hepática e hipertensión portal.

BACKGROUND: Octreotide is used in the treatment of acute variceal bleeding, based on its inhibitory effects of post-prandial splanchnic hyperemia and splanchnic venoconstriction. The consequences of these haemodynamic changes on renal circulation are not well known in cirrhotic patients. AIM: To evaluate the effects of acute octreotide administration on several parameters of renal function, including free water clearance, in patients with cirrhosis with or without ascites. PATIENTS AND METHODS: Twenty cirrhotic patients, Child-Pugh A orB, with or without ascites, with esophageal varices, normal renal function and free of medications (vasoactive drugs or diuretics) were assigned to 2 different protocols. Protocol 1: 10 patients were randomized to receive octreotide or placebo, as a bolus followed by a continuous infusion. Glomerular filtration rate (GFR) and renal plasma flow (PRF) were measured, in basal conditions and during the drug or placebo administration. Protocol 2: 10 additional patients were randomized in the same way and free water clearance and urinary sodium excretion were again measured in the basal period and during the drug or placebo infusion. RESULTS: After octreotide or placebo administration no significant changes were observed neither in GFR nor in PRF. The free water clearance decreased significantly during octreotide administration (3.12 ml/min+/-1.04 SE vs 0.88+/-0.39, p<.03). In both protocols no changes in mean arterial pressure were observed. CONCLUSIONS: Acute administration of octreotide to cirrhotic patients with portal hypertension, with or without ascites, did not produce any change in glomerular filtration rate or in estimated renal plasm blood flow. However the free water clearance decreased significantly. This effect, under chronic administration, could be clinically important and deserves further studies.

Effects of 5-isosorbide mononitrate and propranolol on subclinical hepatic encephalopathy and renal function in patients with liver cirrhosis.

BACKGROUND/AIMS: In patients with cirrhosis pharmacological treatment of portal hypertension using beta-blockers and vasodilators has raised concerns for its potential deleterious effects on renal function and encephalopathy. To clarify this issue we evaluated the effects of propranolol and 5-isosorbide mononitrate or both on subclinical hepatic encephalopathy and renal function in a prospective randomized double-blinded study. METHODOLOGY: Thirty patients Child-Pugh A or B, with esophageal varices, normal renal function and non-previous pharmacological treatment were studied. After a basal period, patients received during 4 weeks 5-isosorbide mononitrate (80 mg/day) or placebo. In the next 4 weeks, propranolol was added to both groups. At baseline and at the end of each study period we assessed: renal function tests; plasma renin activity and aldosterone; subclinical hepatic encephalopathy (electroencephalograms, visual evoked potentials and psychometric studies). Mean arterial pressure, cardiac output (echo-Doppler) and indocyanine green retention were also measured. RESULTS: The most common alterations at baseline were increased arterial ammonia levels (85%), abnormal indocyanine green retention (75%), abnormal trail making B (44%), decreased inulin clearance (30%) and high plasma renin activity (27%). After 4 weeks of 5-isosorbide mononitrate or placebo no significant changes were observed in any variable. Five out of 14 patients receiving 5-isosorbide mononitrate were withdrawn due to side effects. The addition of propranolol decreased significantly plasma renin activity in both groups and cardiac output in those receiving 5-isosorbide mononitrate but did not change other variables. CONCLUSIONS: In patients with compensated or slightly decompensated liver cirrhosis 5-isosorbide mononitrate, propranolol or the association of both did not produce detectable worsening of subclinical hepatic encephalopathy or renal function.

Correlación entre ecobiometría y refracción en pacientes portadores de LIO / Correlation between echobiometry and refraction in patients with IOL

El valor dióptrico del LIO es determinado por una fórmula matemática cuyos valores se obtienen de una ecobiometría. Se efectuó un estudio retrospectivo de 50 casos operados por los autores. Se analizó la efectividad del método matemático relacionándolo con la refracción al aire a los 30 días del postoperatorio