Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2.

Isolated strabismus affects 1-5% of the general population. Most forms of strabismus are multifactorial in origin; although there is probably an inherited component, the genetics of these disorders remain unclear. The congenital fibrosis syndromes (CFS) represent a subset of monogenic isolated strabismic disorders that are characterized by restrictive ophthalmoplegia, and include congenital fibrosis of the extraocular muscles (CFEOM) and Duane syndrome (DURS). Neuropathologic studies indicate that these disorders may result from the maldevelopment of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei. To date, five CFS loci have been mapped (FEOM1, FEOM2, FEOM3, DURS1 and DURS2), but no genes have been identified. Here, we report three mutations in ARIX (also known as PHOX2A) in four CFEOM2 pedigrees. ARIX encodes a homeodomain transcription factor protein previously shown to be required for nIII/nIV development in mouse and zebrafish. Two of the mutations are predicted to disrupt splicing, whereas the third alters an amino acid within the conserved brachyury-like domain. These findings confirm the hypothesis that CFEOM2 results from the abnormal development of nIII/nIV (ref. 7) and emphasize a critical role for ARIX in the development of these midbrain motor nuclei.

Evaluation of intralesional 0.2% ciprofloxacin as a treatment for cutaneous leishmaniasis.

Although cutaneous leishmaniasis lesions usually heal spontaneously they cause unsightly scarring. This study evaluated a possible new therapy in 38 patients, with 70 lesions, randomly assigned to intralesional injection of ciprofloxacin (0.2%) or intralesional sodium chloride hypertonic solution (7%). After excluding patients who defaulted on treatment, lesions assigned to sodium chloride treatment (n = 21) were completely healed (with or without scarring) in 76.2% of cases, and, when a scar remained, the scar size was reduced 66.0% compared with the original lesion. Lesions assigned to ciprofloxacin (n = 27) showed an 81.5% healing rate with an average scar size reduction of 68.6%. Intralesional 0.2% ciprofloxacin was as effective as hypertonic saline in the treatment of cutaneous leishmaniasis infection.

Effects of airborne Aspergillus on serum aflatoxin B1 and liver enzymes in workers handling wheat flour.

OBJECTIVE: The present work aimed to investigate the relationship between occupational exposure to airborne molds, serum aflatoxin B1 (AFB1), and liver enzymes of workers handling wheat flour. METHODS: The study included 90 bakers, 100 flour milling workers, and 100 controls with no exposure to flour dust. Workplace aspects such as temperature and relative humidity were measured. Airborne fungi were collected and identified. In all subjects included, the serum levels of AFB1, serum albumin (Alb), aspartate aminotransferase (AST), alanine aminotransferase (ALT), and alkaline phosphatase (ALP) were measured. RESULTS: Air temperature and relative humidity were found to be higher in bakeries than in flour mill sections. Airborne Aspergillus species were isolated in dust particles <8 µm in size. The concentration of Aspergillus flavus and Aspergillus niger were higher in bakeries than in the flour mill sections. They were higher in the grinding section than in other mill sections. The serum AFB1-Alb adduct and ALP levels were significantly higher in bakers compared to milling workers (p < 0.0001, p = 0.05), respectively. The liver enzymes AST and ALT were significantly higher among milling workers and bakers than controls (p < 0.05, p < 0.0001), respectively. The duration of exposure was significantly correlated with serum AFB1 in bakers. Moreover, there was significant correlation between serum AFB1, each of ALT and AST levels in bakers. CONCLUSIONS: chronic occupational exposure to high concentrations of Aspergillus in workplaces may cause elevations in serum levels of AFB1 and liver enzymes in workers exposed to flour dust. Hence, worker protection measures should be consistently adopted and enforced at the workplace.

Glaucoma in Sturge-Weber syndrome.

BACKGROUND: In glaucoma associated with Sturge-Weber syndrome (SWS), medical treatment often fails to control intraocular pressure, thus requiring surgical intervention that may result in serious complications. METHODS: Eighteen consecutive patients with SWS were reviewed retrospectively at the King Khaled Eye Specialist Hospital. An intraocular pressure less than 20 mm Hg, plus stable optic nerve cup-to-disc ratio and corneal diameter (or visual fields where appropriate), were parameters chosen to indicate that the glaucoma was being controlled. RESULTS: Glaucoma was found in 15 of 18 patients (22 eyes). The mean follow-up time was 62 months (range, 12 to 148 months). Medical treatment alone was successful in 5 patients (7 eyes); the remainder required surgical intervention. The initial surgical procedures included cyclocryotherapy, YAG laser goniotomy, surgical goniotomy, and trabeculotomy or trabeculectomy. Eight eyes required subsequent surgery, 5 with Molteno or Ahmed implants. Early postoperative choroidal effusion and hemorrhage occurred in 4 eyes and resolved spontaneously. Hemorrhagic choroidal detachment with total retinal detachment developed in 2 patients 3 to 5 months after surgery. In 1 patient a recurrent serous choroidal detachment after suture lysis was associated with total optic atrophy. CONCLUSIONS: Glaucoma in SWS is common. Control of glaucoma was successfully achieved with medical treatment in 7 of 22 eyes of our 15 SWS-glaucoma patients, and we consider it the initial treatment of choice. Of the 15 eyes that required surgery, late postoperative complications resulted in loss of vision as a result of persistent postoperative hypotony in 3 eyes that underwent surgical procedures.

Secondary posterior chamber intraocular lens implantation in children.

BACKGROUND: Primary intraocular lens (IOL) implantation after cataract aspiration is a widely accepted means of correcting pediatric aphakia. However, little is available in the literature on secondary IOL implantation in children. We present our experience over the past 6 years. METHODS: The charts of 57 aphakic children (61 eyes) who underwent secondary posterior chamber IOL implantation between January 1989 and April 1996 were reviewed. In general, these children were either intolerant of or noncompliant with their contact lenses. An attempt was made to correlate visual outcome with patient variables. Evaluation of the ciliary sulcus structure was made in selected patients by ultrasonographic biomicroscopy to reveal any changes resulting from the presence of the IOL haptic in the sulcus. RESULTS: The age range at the time of surgery was 2 to 16 years (mean 8 y). Mean follow-up was 14 months (range 6 to 48 months). Forty-two percent of the patients had a best-corrected visual acuity of 20/40 or better and 78% saw better than 20/80. Posterior capsular opacification occurred in 10 eyes, 8 of which required neodymium:yttrium-aluminum-garnet laser capsulotomy. No major complications occurred. Ciliary sulcus evaluation by biomicroscopy did not reveal any significant ciliary body or scleral erosion. No changes were noted when the implanted sulcus was compared with the normal contralateral side. CONCLUSION: Although follow-up was short, this review suggests that secondary posterior chamber IOL implantation is a safe alternative when other methods of correcting pediatric aphakia fail.

Autogenous fascia augmentation of a partially extirpated muscle with a subperiosteal medial orbitotomy approach.

INTRODUCTION: Endoscopic sinus surgery can result in serious extraocular muscle dysfunction. The medial rectus muscle is more frequently affected than other extraocular muscles. METHODS: A transconjunctival subperiosteal medial orbitotomy was successful in retrieving a partially extirpated medial rectus muscle after endoscopic sinus surgery. RESULTS: A previous attempt to localize this muscle by conventional surgery with extensive exploration was unsuccessful. A Hummelsheim procedure was also abandoned after a rupture of the nasal aspect of the inferior rectus muscle occurred. CONCLUSION: The approach we describe allowed adequate visualization of the posterior orbital content, as well as adequate space for suture placement.

Recognized globe perforation during strabismus surgery: incidence, risk factors, and sequelae.

BACKGROUND: Inadvertent perforation of the globe is a well-recognized complication of extraocular muscle surgery. We evaluated the incidence, risk factors, and sequelae of this complication at our institution. METHODS: Medical records of patients who underwent extraocular muscle surgery at King Khaled Eye Specialist Hospital, Saudi Arabia, between September 1983 and April 1997, were reviewed for the occurrence of globe perforation. We documented preoperative visual acuity and refraction, surgical procedure, how the perforation occurred, and immediate management, as well as the sequelae of the perforation, its management, and final outcome. RESULTS: Recognized perforations occurred in 15 of 4886 procedures, for an overall incidence rate of 3/1000. Perforations were 3 times more common in myopic eyes (>-6.00 D, P =.05) and 2 times more common in eyes with previous extraocular muscle surgery. Perforations occurred during muscle reattachment (5 cases), placement of traction sutures at the limbus (4 cases with transient hyphema), muscle disinsertion (3 cases), and placement of sutures at the muscle insertion before disinsertion (3 cases). One patient had a large scleral laceration with uveal prolapse, necessitating scleral patch graft at the time of surgery, and later had retinal detachment surgery with loss of 2 lines of visual acuity. Endophthalmitis, cataract, glaucoma, and phthisis bulbi were not encountered in our review. CONCLUSION: The current incidence of globe perforation is low and only rarely associated with serious sequelae.

The effect of praziquantel on the ultrastructure of Schistosoma margrebowiei.

The effect of various concentrations of praziquantel at different time intervals post-treatment on the ultrastructure of Schistosoma margrebowiei using scanning and transmission electron microscopy has been examined. The major changes involved blebbing of the entire surface tegument of both sexes (although more marked in males) together with vacuolation of the basal membrane accompanied by the development of membraneous whorls. These effects were progressively more marked with increased concentration and time of exposure resulting in severe erosion of the tubercles and collapse of the sensory organelles. Exposure of the underlying tegumental tissue resulted and paralysis and contraction of the suckers and neck region was apparent. Disruption of the subtegumental musculature and the appearance of vacuolation and membraneous whorl formation were seen. The gastrodermis was similarly affected and the S4 cells of the vitelline gland showed protein disruption of the vitelline droplets. Host cells were seen adhering to the surface of the worms following drug treatment and the synergism between PZQ and the action of the hosts immune system has been discussed.

Clinical features associated with the jaw winking syndrome.

BACKGROUND: The jaw winking phenomenon is most often described as blepharoptosis of the upper lid associated with stimulation of the ipsilateral pterygoid muscle. Other clinical features are known to be associated with this entity. They include strabismus, amblyopia and refractive error. PATIENTS AND METHODS: A total of 33 patients were identified via a retrospective chart review. The data collected included the presence and type of any associated strabismus, visual acuity during the follow-up period, refractive error at last examination, affected eye, and sex. RESULTS: Strabismus was found in 69.7% of the patients with double elevator palsy being the most common variety. Refractive errors fell within a normal range for this age group. Amblyopia was found in 51.5% and was most commonly associated with strabismus and/or anisometropia. There was a predominance of affected left eyes (57.6%) and females (63.6%). DISCUSSION: Because of the prevalence of elevation deficiency, one should pay special attention to the extraocular motility pattern when examining a patient with the jaw winking phenomenon. Additionally, one should be aware that amblyopia is common especially in the patients with associated strabismus and/ or anisometropia. The documented association of the jaw winking with Duane syndrome as well as the similar laterality and sex distribution data are an interesting phenomenon.

Scanning electron microscopy of the tegument of adult S. margrebowiei Le Roux, 1933 with particular reference to the structure of the tubercles.

The tegumental surface of Schistosoma margrebowiei as viewed by scanning electron microscopy is described. Both spined and unspined tubercles were found on the dorsal and dorso-lateral surfaces of sexually mature (in copula) male worms. Unpaired males lacked spined tubercles and the development of the spines is considered to occur only when worms are in copula. The females lack tubercles. The importance of tubercle structure in the identification of schistosome species and the effect of sexual maturity on their development is discussed.

Scanning and transmission electron microscopy of the female reproductive system of Schistosoma margrebowiei Le Roux, 1933.

Transmission electron microscopy shows that the uterus of female Schistosoma margrebowiei possesses the same ultrastructure as that of the tegument but lacks spines and sense organs. It does not possess secretory cells and opens at the gonopore which by scanning electron microscopy was seen to be composed of numerous leaf-like protrusions. The morphology of the ovary is comparable with that of other Digenea. Immature and mature ova possess cortically arranged granules and occur within the posterior zone of the ovary. Cilia and lamellae line the luminal surface of the oviduct and ootype, the lamellae running unidirectionally along the duct. Only a single type of secretory cell is seen within Mehlis' gland and this produces dense bodies which are associated with Goldi bodies. Narrow cytoplasmic channels supported by microtubules deliver these secretory bodies to the ootype. The vitelline duct is lined with cilia and lamellae and the vitelline gland contains four types of cells, S1, S2, S3 and S4. Calcareous corpuscles are found within mature S4 cells.

Transmission and scanning electron microscopy of the male reproductive system of Schistosoma margrebowiei Le Roux, 1933.

The structure of the male reproductive system of Schistosoma margrebowiei as viewed by light, scanning and transmission electron microscopy is described. The cirrus tube opens at the genital pore without the presence of a cirrus and is spongy and leaf-like. The structure of the germinal and non-germinal cells of the testes are described. The spermatozoon consists of a head, without an acrosome, and a flagellum with a 9 + 0 arrangement of microtubules in the axial filament. A large mass of mitochondria is situated in the anterior end of the head and cortically arranged longitudinally running microtubules are present. The apical region of the epithelial cells of the vas deferens extends into the lumen of the duct forming convoluted lamellae. This arrangement, together with the presence of dense bodies within the cells, suggests that these cells have a secretory function.

Management of ophthalmic complications of homocystinuria.

OBJECTIVE: To determine the safety and efficacy of surgical versus medical management in the treatment of ophthalmic complications of homocystinuria, and also to document ocular complications of homocystinuria other than lens dislocation. DESIGN: Retrospective case series. PARTICIPANTS: Forty-five patients with ophthalmic complications of homocystinuria participated. INTERVENTION: Eighty-four surgical procedures were performed on 40 patients. There were 82 procedures done with the patients under general anesthesia and 2 with the patients under local anesthesia. Medical therapy was attempted initially in all patients with lens dislocation and was the sole therapy used for five patients. MAIN OUTCOME MEASURES: Complications resulting from medical or surgical treatment and final visual acuity were studied. RESULTS: All patients had a history of lens subluxation or dislocation. Fourteen (31%) were receiving dietary treatment at the time of presentation and 29 (64%) were mentally retarded. Eighty-two procedures were performed with the patients under general anesthesia with 2 surgical complications and 1 postsurgical complication. Lens dislocation into the anterior chamber was the most frequent indication for surgery (50%) followed by pupillary block glaucoma (12%). Prophylactic peripheral iridectomy was not successful in preventing lens dislocation into the anterior chamber in five patients. Anesthetic precautions such as stockings to prevent deep venous thrombosis, preoperative hydration, or aspirin were given in 85% of cases. Other common ophthalmic complications found include optic atrophy (23%), iris atrophy (21%), anterior staphylomas (13%), lenticular opacities (9%), and corneal opacities (9%). CONCLUSION: Laser iridectomy was unsuccessful in preventing lens dislocation into the anterior chamber. With appropriate anesthetic precautions and modern microsurgical techniques, the risks associated with the surgical management of ocular complications of homocystinuria are reduced. Surgical treatment should be considered, especially for cases of repeated lens dislocation into the anterior chamber or pupillary block glaucoma. If a conservative, nonsurgical approach is undertaken, these patients must be observed carefully for repeat episodes of lens dislocation.

Changes in cervical mucus copper and zinc in women using I.U.D.s.

PIP: This study aimed to report short- and long-term changes in copper and zinc concentration in cervical mucus of women using IUDs and their correlation with the antifertility effect of the device. 80 women attending the family planning clinic at El Azhar University Hospital were selected for this study. Lippes loop was inserted in 20 cases, the copper T 200 in another 20 cases. The remaining 40 cases had used either Lippes loop or copper T 200 for one year before this study. Mid-cycle cervical samples were collected one month before insertion and one month after insertion. The cervical mucus was analyzed for the copper and zinc trace metal by atomic absorption technique. The copper was significantly higher in the post insertion samples than the pre-insertion ones in copper devices, while it was significantly lower in the post insertion samples in Lippes loop. The zinc concentration shows insignificant changes in both devices. It may be concluded that for copper-releasing IUDs the raised copper ion concentration may have a direct spermatotoxic effect or may affect the metallo-enzymes in the mucus, influencing sperm metabolism, while the antifertility effect of Lippes loop may be dependant mainly on stimulation of a foreign body reaction in the endometrium and not on the change in the concentration of copper or zinc elements.^ieng