Transformation of meiotic drive into hybrid sterility in Drosophila.

Hybrid male sterility is one of the fastest evolving intrinsic reproductive barriers between recently isolated populations. A leading explanation for the evolution of hybrid male sterility involves genomic conflicts with meiotic drivers in the male germline. There are, however, few examples directly linking meiotic drive to hybrid sterility.

is essential for targeted sperm elimination by .

Intra-genomic conflict driven by selfish chromosomes is a powerful force that shapes the evolution of genomes and species. In the male germline, many selfish chromosomes bias transmission in their own favor by eliminating spermatids bearing the competing homologous chromosomes. However, the mechanisms of targeted gamete elimination remain mysterious.

Transformation of meiotic drive into hybrid sterility in Drosophila.

Hybrid male sterility is one of the fastest evolving intrinsic reproductive barriers between recently isolated populations. A leading explanation for the evolution of hybrid male sterility involves genomic conflicts with meiotic drivers in the male germline. There are, however, few examples directly linking meiotic drive to hybrid sterility.

A new hybrid incompatibility locus between Drosophila melanogaster and Drosophila sechellia.

Despite the fundamental importance of hybrid incompatibilities to the process of speciation, there are few cases where the evolution and genetic architecture of hybrid incompatibilities are understood. One of the longest studied hybrid incompatibilities causes F1 hybrid male inviability in crosses between Drosophila melanogaster females and males from the Drosophila simulans clade of species-Drosophila simulans, Drosophila mauritiana, and Drosophila sechellia. Here, we discover dramatic differences in the manifestation of this lethal hybrid incompatibility among the D.

Foveal Hypoplasia in -Related Retinopathies.

The gene plays a role in retinal development and its maintenance. When disrupted, it gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), retinitis pigmentosa (RP), cone-rod dystrophy (CORD) and macular dystrophy (MD). Studies in retinopathies have shown thickening and coarse lamination of retinal layers resembling an immature retina.

Identifying Meibomian Gland Dysfunction Biomarkers in a Cohort of Patients Affected by DM Type II.

(1) Background: Meibomian gland dysfunction (MGD) among patients with diabetes mellitus (DM) is a common manifestation of dry eye syndrome (DES). (2) Methods: The purpose of this study is to identify clinical parameters and biomarkers useful to improve the follow-up and the treatment of these patients. We have used an ocular surface disease index (OSDI) questionnaire, Schirmer test I/II, tear film break-up time (TF-BUT), fluorescein plus lissamine green staining, Marx's line (ML), and meibomian gland (MGs) morphology using Sirius Topographer (CSO, Costruzione Strumenti Oftalmici, Florence, Italy).

Long-term outcomes of margin-controlled excision for eyelid melanoma.

Objectives: To provide evidence for long-term outcomes for margin-controlled excision of eyelid melanoma.

Methods: Retrospective single-centre observational case series of patients treated for eyelid melanoma between 2007 and 2016, with a minimum of 5-year follow-up. Tumour excision involved rush-paraffin en face horizontal sections and delayed repair (Slow Mohs; SM).

Genome evolution: A story of species and satellites.

Satellite DNA sequences can rapidly expand, and pressure to preserve genome integrity is thought to trigger the adaptive evolution of satellite-associated proteins. The authors of a new study manipulate both sides of this co-evolution in Drosophila to reveal how DNA entanglements can trigger the rapid adaptive evolution of chromatin proteins.

Differential expression of phosphorylated MEK and ERK correlates with aggressive BCC subtypes.

Basal cell carcinoma (BCC) is associated with aberrant Hedgehog (HH) signalling through mutational inactivation of PTCH1; however, there is conflicting data regarding MEK/ERK signalling in BCC and the signalling pathway interactions in these carcinomas. To address this, expression of active phospho (p) MEK and ERK was examined in a panel of 15 non-aggressive and 14 aggressive BCCs. Although not uniformly expressed, both phospho-proteins were detected in the nuclei and/or cytoplasm of normal and tumour-associated epidermal cells however, whereas phospho-MEK (pMEK) was present in all non-aggressive BCCs (14/14), phospho-ERK (pERK) was rarely expressed (2/14).

The Genetic and Clinical Features of -Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants of the forkhead box L2 () gene. It shows autosomal dominant inheritance but can also occur sporadically. Depending on the mutation, two phenotypic subtypes have been described, both involving the same craniofacial features: type I, which is associated with premature ovarian failure (POF), and type II, which has no systemic features.

Diplopia Following the Insertion of a Canalicular Bypass Tube: Etiology, Risk Factors, Management, and Outcomes.

Purpose: To report the etiology, management, and possible risk factors for diplopia after canalicular bypass surgery.

Methods: A multicenter retrospective, noncomparative case series of patients who developed diplopia following canalicular bypass surgery were assessed.

Results: Twenty-four cases of diplopia were identified across 12 institutions.

Peri-orbital surgical emphysema following endoscopic dacryocystorhinostomy.

Background: Peri-orbital surgical emphysema is a rare complication that can occur after lacrimal surgery. It has only been described in isolated cases, following external dacryocystorhinostomy (n = 2) and Lester Jones tube insertion (n = 1).

Method: A retrospective, non-comparative case series was conducted of patients who developed surgical emphysema following endoscopic dacryocystorhinostomy.

Switchover study of onabotulinumtoxinA to incobotulinumtoxinA for facial dystonia.

Importance: When making a cost-saving it is important to ensure there is no loss of efficacy.

Background: Clinical effectiveness and efficiency of incobotulinumtoxinA compared to onabotulinumtoxinA in facial dystonia is unclear. Our aim is to evaluate switching from onabotulinumtoxinA to incobotulinumtoxinA in the treatment of essential blepharospasm (EB), hemifacial spasm (HFS) and aberrant facial nerve regeneration (AFR).

Reporting outcomes of hyaluronic gel filler as a treatment for epiblepharon.

Purpose: Epiblepharon occurs when an extra skin fold overlaps on the eyelid margin with the isolated form mainly seen in children of east Asian origin. If symptomatic and the use of conservative measures such as lubricants have failed, surgery is usually indicated. This traditionally involves everting sutures or combined skin excision, such as a modified Hotz procedure.

Dry eye after Lester Jones tube insertion for epiphora.

: To report the occurrence of dry eye after Lester Jones tube (LJT) insertion. : Retrospective case series from a single unit. The dacrocystorhinostomy (DCR) was carried out using both endoscopic and external approachs; however, insertion of LJT used the same method as either a primary or secondary procedure.

Long-term outcome of flexible onabotulinum toxin A treatment in facial dystonia.

Purpose: The purpose of this study was to assess the long-term outcome of onabotulinum used to treat facial dystonia and compare a flexible and fixed treatment regimen.

Methods: This was a retrospective comparative study looking at benign essential blepharospasm (BEB), hemifacial spasm (HFS) and aberrant facial nerve regeneration synkinesis (AFR) treatment with onabotulinum toxin A (Botox®) over a minimum of 10 years. Fifty-one patients were recruited into the study, with each dystonia subgroup having 17 patients.

Stroke-induced resolution of primary blepharospasm: evidence for the lenticular nucleus as a control candidate.

Primary blepharospasm is an adult-onset focal dystonia characterised by involuntary contractions of the orbicularis oculi, leading to bilateral spasmodic closure of the eyelids. While spasms of this muscle constitute the hallmark of disease, other motor manifestations include increased spontaneous blinking and apraxia of eyelid opening. Originally misdiagnosed as a psychiatric condition, blepharospasm is now well established as being of neurological origin although questions remain as to its pathophysiological mechanisms.

MicroRNA and transcriptome analysis in periocular Sebaceous Gland Carcinoma.

Sebaceous gland carcinoma (SGC) is a rare, but life-threatening condition with a predilection for the periocular region. Eyelid SGC can be broadly categorised into two subtypes, namely either nodular or pagetoid with the latter being more aggressive and requiring radical excision to save life. We have identified key altered microRNAs (miRNA) involved in SGC shared by both subtypes, hsa-miR-34a-5p and hsa-miR-16-5p.

Analysis of hedgehog signaling in periocular sebaceous carcinoma.

Purpose: Sebaceous carcinoma (SC) is a clinical masquerader of benign conditions resulting in significant eye morbidity, sometimes leading to extensive surgical treatment including exenteration, and even mortality. Little is known about the genetic or molecular basis of SC. This study identifies the involvement of Hedgehog (Hh) signaling in periocular SC.

The use of a pleated strip of autogenous temporalis fascia graft for frontalis suspension in recurrent poor levator function ptosis in adult patients.

Purpose: Poor levator function (LF) blepharoptosis can be corrected surgically using frontalis muscle suspension with a variety of materials. Autogenous grafts such as fascia lata are commonly used. The need for a remote surgical site and the risk of an unattractive leg scar makes the use of an autogenous temporalis fascia (ATF) graft appealing as the scar is concealed in the hair.

Cosmetic comparison of gold weight and platinum chain insertion in primary upper eyelid loading for lagophthalmos.

Purpose: Platinum chains are thinner than gold weights (GWs) and may confer a better eyelid curvature profile with reduced visibility. Outcomes compared eyelid measurements, cosmesis, and complications.

Methods: Forty-two primary GW and 17 primary platinum chain insertions were identified and subsequently matched for laterality, pathology, and weight of implant.

Indications and outcomes for revision of gold weight implants in upper eyelid loading.

Background: Gold weights are effective for upper eyelid loading in patients with lagophthalmos. Complications include poor cosmesis, migration, extrusion, allergy and astigmatism. The authors looked at indications for revision of primary gold weights inserted using a high pretarsal placement and outcomes following correction.

Transient internal ophthalmoplegia after inferior oblique myectomy.

Internal ophthalmoplegia causing pupillary dilatation and loss of accommodation following damage to the ciliary ganglion is a rare complication of strabismus surgery. Here we report a case of parasympathetic neuropraxia resulting in transient internal ophthalmoplegia after inferior oblique myectomy in a 12-year-old girl. Short-term symptomatic relief was achieved with 1% pilocarpine.