Effect of Lens Status on the Outcomes of Glaucoma Drainage Device Implantation.

Purpose: To assess the effect of lens status and cataract surgery on glaucoma drainage device (GDD) efficacy.

Design: Retrospective cohort study.

Participants: Two hundred and forty-three eyes of 216 patients that underwent GDD implantation with ≥1 follow-up visit within 3 years postoperatively.

Does pes anserinus tenotomy affect surgical site infection rate in operative tibial plateau fractures?

Purpose: To assess if pes anserinus tenotomy (PAT) during definitive open reduction and internal fixation (ORIF) of tibial plateau fractures is associated with a decreased risk of surgical site infection (SSI) and other postoperative complications.

Methods: A retrospective review of all adults who underwent ORIF for tibial plateau fractures from April 2005 to February 2022 at single level 1 trauma center was performed. Patients who had a medial approach to the plateau with minimum three-month follow-up were required for inclusion.

Patient perspectives on barriers to obtaining surgery for primary hyperparathyroidism: A qualitative review.

Background: The purpose of this study was to qualitatively explore patient-reported barriers to surgery for primary hyperparathyroidism (PHPT) and identify actionable interventions to improve access to surgical care.

Methods: We recruited forty-nine patients in an endocrine surgery clinic at a large, academic medical to participate in an 11- question phone interview. All interviewees underwent parathyroidectomy for primary hyperparathyroidism.

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.

Autosomal dominant polycystic kidney disease (ADPKD) resulting from pathogenic variants in PKD1 and PKD2 is the most common form of PKD, but other genetic causes tied to primary cilia function have been identified. Biallelic pathogenic variants in the serine/threonine kinase NEK8 cause a syndromic ciliopathy with extra-kidney manifestations. Here we identify NEK8 as a disease gene for ADPKD in 12 families.

Efficacy of Ahmed and Baerveldt glaucoma drainage device implantation in the pediatric population: A systematic review and meta-analysis.

Glaucoma drainage devices (GDD) are increasingly utilized in the management of childhood glaucoma. This systematic review and meta-analysis assesses the efficacy of first-time Ahmed or Baerveldt implantation in children. PubMed, Embase, and Cochrane Library were searched for relevant English-language, peer-reviewed literature.

Severe thrombocytopaenia induced by systemic lupus erythematosus presenting as haemorrhagic oral bullae in a paediatric patient.

Systemic lupus erythematosus (SLE) is an autoimmune disease with varying dermatological findings. We review a unique presentation of SLE with a literature review. A previously healthy early adolescent female presented with painful, oral mucosal bullae filled with sanguineous fluid.

Prioritization of Evidence-Based and Evidence-Informed Interventions for Retention in Medical Care for Persons with HIV.

Up to 50% of those diagnosed with HIV in the U.S. are not retained in medical care.

Recurrent divergence-insufficiency esotropia in Machado-Joseph disease (spinocerebellar ataxia type 3).

Purpose: To describe a case of incomitant divergence insufficiency esotropia in the setting of Machado-Joseph disease (spinocerebellar ataxia type 3) that recurred completely within one week after augmented bilateral medial rectus recession.

Observations: A 53-year-old female with a history of Machado-Joseph disease presented with horizontal diplopia primarily at distance consistent with divergence insufficiency esotropia. Augmented bilateral medial rectus recessions were performed which initially produced orthotropia, but recurrence of the esodeviation to the full preoperative amount occurred by post-operative week one.

Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.

Rett (RTT) syndrome, a neurodevelopmental disorder caused by pathogenic variation in the MECP2 gene, is characterized by developmental regression, loss of purposeful hand movements, stereotypic hand movements, abnormal gait, and loss of spoken language. Due to the X-linked inheritance pattern, RTT is typically limited to females. Recent studies revealed somatic mosaicism in MECP2 in male patients with RTT-like phenotypes.

Descriptive analysis of seizures and comorbidities associated with fragile X syndrome.

Background: Fragile X syndrome is characterized by a myriad of physical features, behavioral features, and medical problems. Commonly found behavioral features are hyperactivity, anxiety, socialization difficulties, and ASD. There is also a higher incidence than in the general population of strabismus, otitis media, and mitral valve prolapse.

Plexiform Neurofibroma With Activating KRAS Mutation and Segmental Presentation Involving the Unilateral Eyelid.

Plexiform neurofibromas are classically thought to be pathognomonic for neurofibromatosis type 1. However, isolated forms may occur, particularly as a manifestation of segmental neurofibromatosis related to postzygotic mosaicism in the NF1 gene. Most cases occur on the head and neck, trunk, and extremities with very few cases reported in the periorbital area.

RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A.

Morquio syndrome A (Mucopolysaccharidosis IVA, MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficiency of -acetyl-galactosamine-6-sulfatase (GALNS) which catabolizes the glycosaminoglycans (GAG), keratan sulfate and chondroitin-6-sulfate. Homozygous or compound heterozygous pathogenic variants in the result in the deficiency of the enzyme and consequent GAG accumulations. DNA sequence and copy number analysis of the coding region fails to identify biallelic causative pathogenic variants in up to 15% of patients with Morquio syndrome A.

Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study.

Background: Rett syndrome (RTT) is a neurodevelopmental disorder most often related to a pathogenic variant in the X-linked MECP2 gene. Internalizing behaviors appear to be common, but standard methods of diagnosing anxiety are not readily applied in this population which typically has cognitive impairment and limited expressive language. This study aims to describe the frequency of anxiety-like behavior and anxiolytic treatments along with associated clinical features in individuals with RTT.

Massive periorbital edema following hematopoietic stem cell transplantation.

Purpose: To describe a case of severe, bilateral periorbital edema after hematopoietic stem cell transplantation.

Observations: A three-year old girl with metastatic neuroblastoma underwent the second of two tandem autologous peripheral blood stem cell transplants, complicated by engraftment syndrome. On post-engraftment day 11, she developed acute onset of severe periorbital edema.

Spontaneous hyphema in the setting of COVID-19 pneumonia.

Purpose: To report a challenging case of spontaneous hyphema in the setting of prone positioning for COVID-19 pneumonia.

Observations: A previously healthy patient was concomitantly diagnosed with acute myelogenous leukemia (AML) and COVID-19 infection. During his hospitalization he required intubation and prone positioning.

Treatment Patterns and Clinical Outcomes for Central Retinal Vein Occlusion in the Antivascular Endothelial Growth Factor Era.

Purpose: This article describes treatment patterns and visual outcomes for central retinal vein occlusion (CRVO) in the antivascular endothelial growth factor (anti-VEGF) era.

Methods: A retrospective cohort study of eyes diagnosed with CRVO between 2009 and 2016 was conducted. Treatment history and visual acuity (VA) measurements were abstracted from medical records and analyzed.

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.

Lysine-specific demethylase 6B (KDM6B) demethylates trimethylated lysine-27 on histone H3. The methylation and demethylation of histone proteins affects gene expression during development. Pathogenic alterations in histone lysine methylation and demethylation genes have been associated with multiple neurodevelopmental disorders.

Hand stereotypies: Lessons from the Rett Syndrome Natural History Study.

Objective: To characterize hand stereotypies (HS) in a large cohort of participants with Rett syndrome (RTT).

Methods: Data from 1,123 girls and women enrolled in the RTT Natural History Study were gathered. Standard tests for continuous and categorical variables were used at baseline.

Choosing Wisely in Georgia: A Quality Improvement Initiative in 25 Adult Ambulatory Medicine Offices.

Background: Scant evidence exists of effective Choosing Wisely® initiatives, which are intended to reduce the use of unnecessary care. In 2013 substantial variations existed at Kaiser Permanente Georgia in the frequency of nonbeneficial services in ambulatory care. A Choosing Wisely campaign was implemented across 25 medical offices serving approximately 300,000 members.

Behavioral profiles in Rett syndrome: Data from the natural history study.

Introduction: Rett syndrome (RTT) is a complex neurodevelopmental disorder with known behavioral abnormalities, both internalizing (e.g., anxiety, social withdrawal) and externalizing (e.