Prenatal diagnosis of chromosome 4 mosaicism: prognostic role of cytogenetic, molecular, and ultrasound/MRI characterization.

Trisomy 4 mosaicism is extremely rare: herein we report the cytogenetic and molecular characterization and prenatal US findings of a case diagnosed prenatally. The diagnosis of level III mosaicism was established in cultured amniotic fluid cells (22.5%).

[''Isolated'' single umbilical artery: incidence, cytogenetic abnormalities, malformation and perinatal outcome].

Aim: The aim of the study was to 1) evaluate the gestational age at diagnosis and the incidence of single umbilical artery in an unselected population of 3750 pregnant women; 2) identify its association with malformations and/or karyotype aberrations in pre/postnatal age; 3) evaluate the fetal-neonatal outcome; 4) investigate the likelihood that a fetus might be affected by a cytogenetic abnormality even in presence of an apparently ''isolated'' single umbilical artery.

Methods: Transabdominal ultrasound of the umbilical vessels and histological confirmation at birth. In presence of single umbilical artery an accurate prenatal ultrasound assessment, karyotyping (pre/postnatal), and clinical follow-up after birth were performed.

Variable outcome of photodynamic therapy for choroidal neovascularization associated with choroidal nevus.

Purpose: To report five cases of classic choroidal neovascularization (CNV) associated with choroidal nevus treated with photodynamic therapy (PDT) with verteporfin.

Methods: The patients underwent an ophthalmologic evaluation, including fluorescein angiography and indocyanine green angiography. Clinical and angiographic data were retrospectively analyzed to evaluate visual acuity outcomes and both clinical evolution and angiographic evolution.

Intravitreal triamcinolone acetonide in refractory pseudophakic cystoid macular edema: functional and anatomic results.

Purpose: To evaluate safety and efficacy of intravitreal triamcinolone acetonide (TAAC) injections in the treatment of refractory pseudophakic cystoid macular edema (CME).

Methods: Seven eyes of six patients (age range: 50-74) with pseudophakic CME resistant to standard treatment received intravitreal injections of 4 mg of TAAC with all vehicle. Mean preinjection duration of CME was 18.

Macular hole following conventional repair of bullous retinal detachment using air injection (D-ACE procedure).

Purpose: Sequential drainage of subretinal fluid (D), injection of air (A), cryotherapy (C), and application of local explants (E) (D-ACE) sequence was introduced in order to overcome the problems encountered in managing superior bullous detachments from multiple large equatorial breaks. The authors recently observed the occurrence of a full-thickness macular hole in one patient developing the day after he underwent a D-ACE procedure.

Methods: A 61-year-old man presented a bullous retinal detachment in the right eye extending from the 9:30 to the 2 o'clock position, and posteriorly to the vascular arcades two retinal tears were noted, at the equator at 11 o'clock, and anterior to the equator at 12 o'clock.

Photodynamic therapy for retinal angiomatous proliferations and pigment epithelium detachment.

Purpose: To evaluate results of photodynamic therapy (PDT) with verteporfin for subfoveal neovascular age-related macular degeneration (ARMD) with retinal angiomatous proliferation (RAP) and pigment epithelial detachment (PED).

Design: Interventional case series.

Methods: Thirteen eyes (11 stage 2 and 2 stage 3 RAP) underwent PDT.

Segregation of two endocannabinoid-hydrolyzing enzymes into pre- and postsynaptic compartments in the rat hippocampus, cerebellum and amygdala.

Fatty acid amide hydrolase (FAAH) and monoglyceride lipase (MGL) catalyse the hydrolysis of the endocannabinoids anandamide and 2-arachidonoyl glycerol. We investigated their ultrastructural distribution in brain areas where the localization and effects of cannabinoid receptor activation are known. In the hippocampus, FAAH was present in somata and dendrites of principal cells, but not in interneurons.

Triamcinolone-assisted pars plana vitrectomy for proliferative vitreoretinopathy.

Purpose: To determine whether triamcinolone acetonide (TAAC) staining facilitates posterior hyaloid and epiretinal membrane (ERM) removal in patients undergoing pars plana vitrectomy (PPV) for rhegmatogenous retinal detachment (RRD) with proliferative vitreoretinopathy (PVR).

Methods: Ten consecutive pseudophakic patients (10 eyes) underwent PPV for RRD with PVR. After a core PPV, a few drops of a commercially available TAAC aqueous suspension (40 mg/mL) with vehicle were injected into the mid vitreous cavity to visualize the posterior hyaloid, thus allowing a complete posterior hyaloidectomy.

Expression pattern of the ether-a-gogo-related (ERG) K+ channel-encoding genes ERG1, ERG2, and ERG3 in the adult rat central nervous system.

Voltage-dependent K(+) channels play a pivotal role in controlling cellular excitability within the nervous system. The aim of the present study was to investigate the expression in the adult rat brain of the three ether-a-gogo-related gene (ERG) family members ERG1, ERG2, and ERG3, encoding for K(+) channel subunits. To this aim, the distribution of ERG transcripts was studied by means of reverse-transcription polymerase chain reaction (RT-PCR) and nonradioactive in situ hybridization histochemistry (NR-ISH).

Luxated intraocular lens fixation using anterior chamber slipknot of the haptic to the sclera: a simple procedure to fixate intraocular lens to the sclera.

Purpose: To describe a technique for suturing a luxated intraocular lens (IOL) in the vitreous cavity directly to the ciliary sulcus using intraocular slipknot without IOL extraction.

Design: Noncomparative interventional case series.

Materials And Methods: A three-port vitrectomy was performed in all cases.

Combined topical anesthesia and sedation for open-globe injuries in selected patients.

Purpose: To evaluate the efficacy and safety of topical anesthesia (TA) and IV sedation in surgery for less severe open-globe injury (OGI).

Design: Noncomparative consecutive interventional case series.

Participants: Of 67 OGI cases reviewed at the Department of Ophthalmology and Otolaryngology, University of Bari, Bari, Italy, in the period from 1999 to 2000, 10 eyes (14.

Evaluation of corneal damage by combined phacoemulsification and passive efflux of silicone oil in vitrectomized eyes.

Purpose: To evaluate the effect on the corneal endothelium of phacoemulsification combined with passive silicone oil removal and intraocular lens (IOL) implantation under topical anesthesia after pars plana vitrectomy.

Setting: Department of Ophthalmology and Otolaryngology, University of Bari, Bari, Italy.

Methods: This retrospective study evaluated the corneal endothelium in 17 consecutive patients (17 eyes) who had phacoemulsification with transpupillary passive silicone oil washout (1300 centistokes) through a posterior capsulorhexis and single clear corneal incision and foldable acrylic IOL implantation.

Phacoemulsification with transpupillary silicone oil removal and lens implantation through a corneal incision using topical anesthesia.

Purpose: To evaluate phacoemulsification combined with transpupillary silicone oil removal and foldable intraocular lens (IOL) implantation through a single corneal incision and planned posterior capsulorhexis after pars plana vitrectomy using topical anesthesia.

Setting: Department of Ophthalmology, University of Bari, Bari, Italy.

Methods: This noncomparative nonrandomized noncontrolled interventional case series comprised 34 consecutive patients (34 eyes).

Differential expression of the Na+-Ca2+ exchanger transcripts and proteins in rat brain regions.

In the central nervous system (CNS), the Na(+)-Ca(2+) exchanger plays a fundamental role in controlling the changes in the intracellular concentrations of Na(+) and Ca(2+) ions. These cations are known to regulate neurotransmitter release, cell migration and differentiation, gene expression, and neurodegenerative processes. In the present study, nonradioactive in situ hybridization and light immunohistochemistry were carried out to map the regional and cellular distribution for both transcripts and proteins encoded by the three known Na(+)-Ca(2+) exchanger genes NCX1, NCX2, and NCX3.

Choroidal neovascularization secondary to vitrectomy for idiopathic epiretinal membrane: report of an unusual case.

Purpose: Epiretinal membranes (ERM) are a common finding in old patients. Pars plana vitrectomy is effective for removing ERM from the macula, but some postoperative complications are relatively frequent. In the present report, we describe a 73-year-old man in whom extrafoveal choroidal neovascularization developed four months after surgery.

Brain distribution of the Na+/Ca2+ exchanger-encoding genes NCX1, NCX2, and NCX3 and their related proteins in the central nervous system.

In the central nervous system, the Na(+)/Ca(2+) exchanger plays a fundamental role in controlling changes in the intracellular concentrations of Na(+) and Ca(2+) ions that occur in physiologic conditions such as neurotransmitter release, cell migration and differentiation, gene expression, as well as neuro-degenerative processes. Three genes, NCX1, NCX2, and NCX3, encoding for Na(+)/Ca(2+) exchanger isoforms have been cloned. In this review, by using non-radioactive in situ hybridization and light immunohistochemistry with NCX isoform-specific riboprobes and antibodies, respectively, a systematic brain mapping for both transcripts and proteins encoded by all three NCX genes is described.

Accuracy of Orbscan optical pachymetry in corneas with haze.

Purpose: To compare corneal thickness measurements with the Orbscan instrument (Orbtek, Inc.) and an ultrasonic pachymeter (Alcon Surgical) in corneas with haze.

Setting: Department of Ophthalmology and Otolaryngology, University of Bari, Bari, Italy.

Corneal interactive programmed topographic ablation customized photorefractive keratectomy for correction of postkeratoplasty astigmatism.

Objective: This study evaluated the efficacy, predictability, stability, and safety of a software program (Corneal Interactive Programmed Topographic Ablation [CIPTA], LIGI, Taranto, Italy), which, by transferring programmed ablation from the corneal topograph to a flying-spot excimer laser, provides customized laser ablation for correction of postkeratoplasty astigmatism.

Design: Noncomparative consecutive interventional case series.

Participants: Ten eyes of 10 patients with a mean age of 41.

Topography-driven excimer laser for the retreatment of decentralized myopic photorefractive keratectomy.

Objective: This study evaluated the efficacy, predictability, stability, and safety of a software program (Corneal Interactive Programmed Topographic Ablation, CIPTA, LIGI, Taranto, Italy), which, by transferring programmed ablation from the corneal topograph to a flying-spot excimer laser, provides customized laser ablation for correction of postmyopic photorefractive keratectomy (PRK) decentrations.

Design: Noncomparative consecutive case series.

Participants: Thirty-two eyes of 32 subjects with a mean age of 35 years (range, 19-49; standard deviation [SD], 7.

Protein oxidation and lens opacity in humans.

Purpose: Oxidative damage to lens proteins is a major factor leading to cataract formation. It is of pathogenic importance to determine a threshold of protein oxidation over which opacification of the lens takes place.

Methods: Sixty-two lenses extracted from patients affected by idiopathic senile, diabetic, or myopic cataract were studied.

Topography-driven photorefractive keratectomy: results of corneal interactive programmed topographic ablation software.

Objective: This study evaluated the efficacy, predictability, stability, and safety of a software program (Corneal Interactive Programmed Topographic Ablation (CIPTA) LIGI, Taranto, Italy) which, by transferring programmed ablation from the corneal topography to a flying-spot excimer laser, provides customized laser ablation.

Design: Noncomparative consecutive case series.

Participants: Forty-two eyes of 34 subjects with a mean age of 33.

Oxidative retinal products and ocular damages in diabetic patients.

Several evidences suggest a retinal participation to the genesis of diabetic eye complications by means of an increased free radical production at this level. However, no direct proof exists that this happens in humans in vivo. Therefore, the concentrations of malondialdehyde (MDA), carbonyl and sulfhydryl (P-SH) proteins, and vitamin E have been assessed in the subretinal fluid (SF) of patients affected by retinal detachment.

Role of lipid peroxidation in the pathogenesis of myopic and senile cataract.

Aims/background: Increased production of free radicals, consumption of antioxidant, and oxidation of unsaturated lipids have been observed recently in cataractous lenses and active participation of the retina in human cataractogenesis has been proposed. To verify this hypothesis, the total (GSH) and oxidised (GSSG) glutathione concentrations were assayed in the lens and the malondialdehyde (MDA) levels assayed in the vitreous and in the lens of normal controls and patients with senile or myopic cataract.

Methods: The study was conducted on 34 lenses (nucleus and epinucleus) (nine clear lenses, 14 lenses with idiopathic senile cataract, and 11 lenses affected by severe myopic cataract) and vitreous of 19 (seven non-myopic, seven myopic, and five control) subjects.