Choroideremia: manifestations in affected male and female carrier

CASE REPORT: Ocular phenotypes in an affected male and a female carrier with choroideremia are described. COMMENT: Choroideremia is a degenerative retinal disease recognized in the late stages by a near total absence of the choriocapillaris, retinal pigment epithelium and neurosensory retina. Inheritance is X-linked recessive, with males being affected and females acting as carriers. Clinical manifestations include decreased night vision, central vision affected in late stages, peripheral constriction in the visual field and abnormal electroretinogram early in the course of the disease.     

Clinical and angiographic findings in three patients with serpiginous choroiditis

PURPOSE/METHODS: Serpiginous choroiditis is a rare, chronic, progressive, and recurrent bilateral disorder primarily involving the choriocapillaris and the retinal pigment epithelium. Progression typically occurs as pseudopodia extensions away from the optic discs and usually infringes upon the macula and foveal region. RESULTS/CONCLUSIONS: We studied three cases of geographic choroidopathy, showing the ophthalmoscopic picture and the fluorescein angiographic of the fundus oculi, characterised by typical disease lesions. Finally, some considerations in differential diagnosis between pigment epithelium inflammatory diseases will be reported.     

Treatment of patients with recurrence or who do not respond to the first treatment against hepatitis C

The current criteria to confirm the absence of therapeutic response to HCV is based on the viral findings. Lack of response is defined as the failure to achieve a negative serological response to the virus in peripheral blood (serum or plasma) after 12 weeks of treatment with interferon alpha (2a or 2b), or 24 weeks of treatment with IFN and ribavirin. Up to 60% of patients treated with standard IFN alpha and ribavirin are considered non-responders. According to viral genotype, figures are still worse in the group with genotype 1. Recently, the use of pegylated interferon allowed the reduction of the number of non-responding patients. The investigators propose different approaches in the search for better therapeutic strategies. The most effective of them all are the addition of ribavirin to the therapeutic scheme and the use of pegylated interferon which greatly increased the number of responders. Nevertheless, there are still many patients who are resistant to therapy. These are the proposed therapeutic alternatives for non-respondent patients: 1. Another tretment cycle with standard IFN and ribavirin (low probability) 2. Another treatment cycle with pegylated IFN and ribavirin. 3. Another treatment cycle with IFN, ribavirin and amantadine. 4. Another treatment cycle with IFN, ribavirin and timosine. 5. Other antiviral agents. It's important to clarify that "real non-responders" are those patients who remain positive in the viral load tests after 12-24 months of treatment. On the other hand, patients who "escape from treatment" or those with "recurrence" are not real non-responders, compared to those who are negative after 12-24 weeks of treatment.     

Early and late results of the acid suppression and duodenal diversion operation in patients with barrett's esophagus: analysis of 210 cases

The usual surgical treatment for patients with Barrett's esophagus (BE) is a classic Nissen fundoplication or posterior gastropexy with cardial calibration. However, some surgical reports as well as our experience suggest that the rate of failure of the Nissen fundoplication or Hill's posterior gastropexy in patients with BE is significantly higher than in those with reflux esophagitis without BE, probably due in part to the persistence of duodenal reflux into the esophagus. Our aim was to determine the late subjective and objective results of an operation consisting in "acid suppression" (vagotomy-partial gastrectomy) and "duodenal diversion" (Roux-en-Y anastomosis) as a primary surgical procedure for patients with BE. Altogether, 210 patients were subjected to this technique. It consisted in a primary operation in 142 patients and revision surgery in 68. They underwent complete clinical, radiologic, endoscopic, histologic, and manometric studies. In some cases 24-hour pH studies, Bilitec studies, gastric emptying, and gastric acid secretion evaluations were performed. There were two deaths (0.95%), and postoperative morbidity was low (5.3%). The late mean follow-up (58 months) for 146 patients who completed a follow-up longer than 24 months showed Visick I and II grades in 91.1% of the cases. In 14.9% of the cases 24-hour pH monitoring showed excessive acid reflux 1 year after surgery. No dysplasia or adenocarcinoma has appeared up to now. Functional studies showed significant alleviation of lower esophageal sphincter (LES) incompetence, with abolition of duodenal reflux into the esophagus. Gastric emptying of solids was normal, and basal and peak gastric acid output remained at a low level 8 to 10 years after surgery. In patients with BE, with severe damage of the LES and esophageal peristalsis, the "suppression diversion" operation completely abolishes the reflux of injurious components of the refluxate and improves sphincter competence. This effect is permanent and avoids the appearance of dysplasia or adenocarcinoma.     

Nonanatomic Thoracoscopic Wedge Resection for Diffuse Lung Disease and Indeterminate Pulmonary Nodule

Video technology has revolutionized thoracoscopy dramatically, considerably increasing its indications. The clinical charts of patients who underwent a video-thoracoscopic procedure during a 6-year period were reviewed. Any patient in whom lung wedge resection for diffuse disease or an indeterminate nodule was performed met the inclusion criteria. Early and long-term outcomes were analyzed. A total of 310 thoracoscopic procedures were performed in the 250 patients reviewed. Of these patients, 60 presented with diffuse lung disease and 71 with an indeterminate pulmonary nodule. The total morbidity among diffuse disease patients was 5% (one intercostal vessel hemorrhage and two air leaks). Overall mortality for this group was 11% and was related to previous respiratory status and underlying disease. Patients not requiring preoperative mechanical ventilation ended up requiring it postoperatively, for a crossover rate of 23%. There was no morbidity or mortality in patients who did not require mechanical ventilation. The therapeutic impact index (defined as the total number of patients divided by the patients in whom initiation or withdrawal of specific treatment was due to the biopsy result) for diffuse lung disease was 0.9. Regarding lung nodule resection, early morbidity was present in one patient, who developed a persistent air leak. Late morbidity was present in three patients, who developed persistent intercostal pain. Total morbidity was 5.6%. No mortality was observed for this group. Nonanatomic wedge resection via video-thoracoscopy for diffuse pulmonary disease and indeterminate lung nodule is feasible using minimally invasive methods. Morbidity and mortality are related to the underlying disease and the respiratory status; they are not necessarily due to the procedure.     

Dehydroepiandrosterone sulfate and growth axis hormones in patients after surgery

We selected 38 patients scheduled for cholecystectomy and studied their serum concentrations of dehydroepiandrosterone (DHEA) and growth axis hormones [growth hormone/insulin-like growth factor-1 (GH/IGF-1)]. We aimed to determine whether alterations in these concentrations resulted from surgical stress or, on the contrary, preceded surgery and were themselves a cause of chronic diseases that reduce life expectancy. We measured the serum concentrations of DHEA sulfate (DHEA-S), ACTH, cortisol, human GH (hGH), IGF-1, and IGF-1 binding protein-3 (IGFBP-3) preoperatively and then 2 and 7 days after surgery; we also compared the preoperative findings with those of a healthy control group. The results were analyzed by gender because DHEA and GH/IGF-1 are known to present sexual dimorphism. There were no significant differences between the preoperative and control results for any of the parameters studied. We found a significant reduction in the concentrations of DHEA-S and IGF-1 on days 2 and 7 after surgery versus the preoperative values. We conclude that the decrease in DHEA-S in patients after surgery is a result of surgical trauma and does not precede surgical stress. The decrease in hormone levels observed in patients with chronic disease may therefore be a result, not a cause, of disease, as some have claimed. Further studies with a later endpoint would be of interest to assess any subsequent return of DHEA-S levels to baseline measurements.     

Polymerase chain reaction diagnosis in fungal keratitis caused by Alternaria alternata

PURPOSE: To contribute toward assessing the effectiveness of polymerase chain reaction as a rapid method in diagnosis of torpid keratitis caused by opportunistic fungi. METHODS: Interventional case report. A 50-year-old man with a corneal abscess in the right eye treated for a period of 6 months with different combinations of broad-spectrum antibiotics and steroids was referred to our center. Corneal scraping was taken for microbiological study, including classic cultures and polymerase chain reaction. Amplified DNA was sequenced to identify the pathogen. RESULTS: Polymerase chain reaction amplification was negative for Acanthamoeba species and positive for fungi. The sequence analysis showed Alternaria alternata as the causal agent in 24 hours. Cultures confirmed the identification in 10 days. CONCLUSION: Polymerase chain reaction amplification with subsequent DNA-typing was revealed to be a useful method for detection of ocular pathogens such as A. alternata involved in cases of torpid keratitis, even in the presence of broad-spectrum antimicrobial therapy.