Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.

Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular segregation of macromolecules and organelles and are linked to human disease. VPS proteins function as part of complexes such as the homotypic fusion and vacuole protein sorting (HOPS) tethering complex, composed of VPS11, VPS16, VPS18, VPS33A, VPS39 and VPS41.

Role of Arthrodiastasis Using Hinged Monolateral External Fixator Without Soft Tissue Release in Advanced Stage of Legg-Calve-Perthes Disease.

Purpose: Presentation with the advanced stage of Legg-Calve-Perthes disease (LCPD) carries a poor prognosis, regardless of the treatment that the patient receives. The aims of this study are to assess the clinical and radiological outcomes of arthrodiastasis in advanced cases of LCPD using a hinged monolateral external fixator without soft tissue release and to raise safety issues regarding its low rate of complications.

Patients And Methods: Six patients with LCPD who were classified as lateral pillar types B and C and were operated on in our department were included in this retrospective study.

Breastfeeding and Maternal Age-Related Cataract in the U.S. Population.

Purpose: An estimated 38 million and 50 million individuals will have cataract in the U.S. alone by 2030 and 2050, respectively.

Publisher Correction: RNA-Seq transcriptome profiling in three liver regeneration models in rats: comparative analysis of partial hepatectomy, ALLPS, and PVL.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

RNA-Seq transcriptome profiling in three liver regeneration models in rats: comparative analysis of partial hepatectomy, ALLPS, and PVL.

The liver is a unique organ that has a phenomenal capacity to regenerate after injury. Different surgical procedures, including partial hepatectomy (PH), intraoperative portal vein ligation (PVL), and associated liver partition and portal vein ligation for staged hepatectomy (ALPPS) show clinically distinct recovery patterns and regeneration. The observable clinical differences likely mirror some underlying variations in the patterns of gene activation and regeneration pathways.

Is Dietary Milk Intake Associated with Cataract Extraction History in Older Adults? An Analysis from the US Population.

Background: Galactose accumulation in the lens tissue is known to be cataractogenic. Whether consistent dietary intake of lactose-which consists of glucose and galactose-predisposes to senile cataract remains unclear. This study was conducted to investigate the association between a number of dietary milk intake indicators and cataract extraction history in a representative sample of older adults from the US population.

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.

Rett syndrome (RTT) is a severe neurodevelopmental disorder reported worldwide in diverse populations. RTT is diagnosed primarily in females, with clinical findings manifesting early in life. Despite the variable rates across populations, RTT has an estimated prevalence of ∼1 in 10,000 live female births.

Visual and refractive outcomes and complications in femtosecond laser-assisted versus conventional phacoemulsification cataract surgery: findings from a randomised, controlled clinical trial.

Background/aim: To compare visual and refractive outcomes, changes in intraocular pressure (IOP), and complications of femtosecond laser-assisted cataract surgery (FLACS) to conventional phacoemulsification surgery (CPS) in paired eyes from the same patients.

Methods: This is a secondary analysis of an intraindividual, randomised, controlled clinical trial including 110 paired eyes from 55 patients that were randomised into either FLACS or CPS groups. Outcomes were recorded at baseline and postoperatively during a 3-month follow-up period.

Outcomes and complications of iris-fixated intraocular lenses in cases with inadequate capsular support and complex ophthalmic history.

Background: To report the indications, visual outcomes, and intra-operative and post-operative complications of iris-sutured posterior chamber intraocular lens (IOL) in eyes with inadequate capsular support and complex ocular history.

Methods: A chart review and data analysis of eyes that underwent iris fixation of posterior chamber (PC) IOL for correction of aphakia, dislocated and subluxed IOLs, ectopia lentis, and IOL exchange. Data included clinical risk factors, associated eye conditions, previous surgeries, and concomitant procedures.

Refractive and Visual Outcomes and Rotational Stability of Toric Intraocular Lenses in Eyes With and Without Previous Ocular Surgeries: A Longitudinal Study.

Purpose: To evaluate visual and refractive outcomes and rotational stability of toric intraocular lens (IOL) implantation in eyes with previous ocular surgeries.

Methods: This controlled, longitudinal cohort study included a total of 133 eyes (59 study cases with a history of corneal, vitreoretinal, and/or glaucoma surgery and 74 randomly selected controls without a history of ocular surgery) that had cataract and corneal astigmatism treated with toric IOL implantation. Postoperative outcomes were recorded at postoperative 1 month and 3 to 12 months.

Comparison of changes in corneal endothelial cell density and central corneal thickness between conventional and femtosecond laser-assisted cataract surgery: a randomised, controlled clinical trial.

Background/aim: To identify changes in endothelial cell density (ECD) and central corneal thickness (CCT) in eyes undergoing femtosecond laser-assisted cataract surgery (FLACS) compared with conventional phacoemulsification surgery (CPS).

Methods: This is an intraindividual randomised, controlled clinical trial. One eye was randomised to receive FLACS, while the contralateral eye of the same patient received CPS.

Corneoscleral xanthogranuloma treated with chemotherapy: The room for nonsurgical management.

Purpose: To describe a clinical case of corneoscleral xanthogranuloma, a rare manifestation of juvenile xanthogranuloma, and xanthoma disseminatum, which responded well to chemotherapy.

Methods: Interventional case report and literature search.

Results: A 9-year-old female patient with a disseminated disease showed complete regression of her corneoscleral xanthogranuloma with methotrexate and azathioprine therapy.

Identification of novel genomic imbalances in Saudi patients with congenital heart disease.

Background: Quick genetic diagnosis of a patient with congenital heart disease (CHD) is quite important for proper health care and management. Copy number variations (CNV), chromosomal imbalances and rearrangements have been frequently associated with CHD. Previously, due to limitations of microscope based standard karyotyping techniques copious CNVs and submicroscopic imbalances could not be detected in numerous CHD patients.

Serum testosterone levels and other determinants of sperm retrieval in microdissection testicular sperm extraction.

Background: Microdissection testicular sperm extraction (microTESE) has become the standard of care for sperm retrieval in non-obstructive azoospermia (NOA) patients. Understanding the significant determinants of microTESE outcomes may result in improvements in sperm retrieval rates and provide better-informed clinical decisions.

Methods: This is a clinical retrospective study conducted through chart review of 421 NOA patients who underwent microTESE between August 2009 and July 2015 in a tertiary-care referral hospital.

deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.

Background: Voltage-gated potassium channels are highly diverse proteins representing the most complex class of voltage-gated ion channels from structural and functional perspectives. Deficiency of these channels usually results in various human disorders.

Objectives: To describe a novel autosomal recessive syndrome associated with deficiency leading to congenital cataract, abnormal striatum, intellectual disability and attention deficit hyperactivity disorder.

Immature mediastinal teratoma with unusual histopathology: A case report of multi-lineage, somatic-type malignant transformation and a review of the literature.

Germ cell tumors (GCTs) represent a well-recognized group of heterogeneous neoplasms with diverse clinical, histopathological, diagnostic, and prognostic characteristics. We present a rare case of a locally aggressive, chemotherapy-resistant immature mediastinal teratoma with a peculiar histological finding of a multilineage somatic-type malignant degeneration. A 21-year-old male patient presented with a 3-week history of persistent, blood-tinged productive cough and shortness of breath.