Perceptions of Pharmacy Educators Regarding the NAPLEX Pass Rate Puzzle.

Objective: Identify perceptions from pharmacy faculty across the Academy concerning factors that may be influencing North American Pharmacist Licensure Examination (NAPLEX) first-time pass rates to highlight potential focused areas of further research based on common experiences.

Methods: An anonymous 43-item Qualtrics questionnaire was distributed to faculty members from the American Association of Colleges of Pharmacy. Questions were predominantly 5-point Likert scale items (5 = very large impact) and encompassed 6 domains: pharmacy school factors, COVID-19 educational modifications, testing factors, standardized testing, applicant preparedness, and student factors.

Spotlight on Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC).

Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC) is a rare syndrome caused by biallelic mutations in the JAM3 gene with significant intrafamilial variability in clinical presentation and brain imaging phenotypes. The clinical presentation of HDBSCC includes severe recurrent hemorrhages involving the brain parenchyma and the ventricles beginning in utero and continuing in infancy together with dense central cataracts present at birth. This comprehensive review documents reported cases on this unique condition and describes its genetic, neuroradiologic and ophthalmic features.

Clinical and ocular abnormalities in DEGCAGS syndrome-Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities.

Purpose: To describe clinical and ocular abnormalities in a case of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities (DEGCAGS syndrome).

Methods: A clinical report.

Case Description: An infant born to a consanguineous Middle Eastern family who was delivered by cesarean section because of in utero growth restriction, premature labor, and breech presentation.

Retinal Findings in Haemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC): Case Report and Review.

We describe a child from a consanguineous family born with a rare autosomal recessive disorder affecting causing profound neurological and ophthalmological injury known as haemorrhagic brain destruction, subependymal calcifications, and congenital cataracts (HDBSCC; MIM# 613730). She was the product of an unremarkable pregnancy and was born near to term but was noted shortly after birth to have congenital cataracts, poor vision, increased muscle tone, seizures, and developmental delay. Her older sister had an identical syndrome and had previously been documented to have homozygous mutations in .

Association of Chemotherapy Regimen Intensity and Use of Psychotropic Medications in Pediatric Oncology Patients.

Objective: Pediatric oncology patients endure treatments that may include chemotherapy, surgery, radiation, and transplant. These treatment modalities often have an effect on a patient's mental health. To date, little is known or published about the association between certain cancer treatment regimens and the use of psychotropic medications.

Optimization of Vancomycin Dosing to Achieve Target Area Under the Curve in Pediatrics.

Objective: Vancomycin dosing requirements to achieve a target area under curve/minimum inhibitory concentration (AUC/MIC) of 400 to 600 mg•hr/L have not been established in pediatrics. Dose modeling studies and recent guidelines suggest dosing higher than historical recommendations. This study examines dosing requirements to achieve target AUC/MIC in human pediatric patients.

Use of En Face Optical Coherence Tomography to Monitor Papilledema in Idiopathic Intracranial Hypertension: A Pilot Study.

Background: En face optical coherence tomography (OCT) uses the data acquired during OCT of the optic disc, which typically is used to determine measurements of the peripapillary retinal nerve fiber layer (ppRNFL), to generate a coronal composite fundus image rather than a cross-sectional image. En face OCT has been reported to identify retinal changes related to papilledema in idiopathic intracranial hypertension (IIH) but has not been evaluated for monitoring papilledema. This study aimed to assess the reliability and validity of en face OCT for monitoring papilledema.

Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans.

Oculomotor synkinesis is the involuntary movement of the eyes or eyelids with a voluntary attempt at a different movement. The chemokine receptor CXCR4 and its ligand CXCL12 regulate oculomotor nerve development; mice with loss of either molecule have oculomotor synkinesis. In a consanguineous family with congenital ptosis and elevation of the ptotic eyelid with ipsilateral abduction, we identified a co-segregating homozygous missense variant (c.

How Older Adults and Their Families Perceive Family Talk about Aging-Related EOL Issues: A Dialectical Analysis.

For older adults, approaching end-of-life (EOL) brings unique transitions related to family relationships. Unfortunately, most families greatly underestimate the need to discuss these difficult issues. For example, parents approaching EOL issues often struggle with receiving assistance from others, avoiding family conflict, and maintaining their sense of personhood.

NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME.

Purpose: To report novel retinal findings in Kearns-Sayre syndrome and correlate degree of retinopathy with other clinical findings.

Methods: Observational case series of patients from Saudi Arabia with retinal and neuroophthalmologic examinations, medical chart review, and mitochondrial genetic evaluation.

Results: The three unrelated patients had progressive external ophthalmoplegia and pigmentary retinopathy bilaterally.

Biallelic mutations in human DCC cause developmental split-brain syndrome.

Motor, sensory, and integrative activities of the brain are coordinated by a series of midline-bridging neuronal commissures whose development is tightly regulated. Here we report a new human syndrome in which these commissures are widely disrupted, thus causing clinical manifestations of horizontal gaze palsy, scoliosis, and intellectual disability. Affected individuals were found to possess biallelic loss-of-function mutations in the gene encoding the axon-guidance receptor 'deleted in colorectal carcinoma' (DCC), which has been implicated in congenital mirror movements when it is mutated in the heterozygous state but whose biallelic loss-of-function human phenotype has not been reported.

Clinicopathological features of peripheral nerve sheath tumors involving the eye and ocular adnexa.

Peripheral nerve sheath tumors (PNSTs) are known to occur in the orbit and comprise 4% of all orbital tumors, but have not been well studied in contemporary literature. Ninety specimens involving the eye and ocular adnexa (1979-2015) from 67 patients were studied. The mean age was 32.

Relative Frequencies of Arteritic and Nonarteritic Anterior Ischemic Optic Neuropathy in an Arab Population.

Background: To evaluate the relative frequencies of arteritic and nonarteritic anterior ischemic optic neuropathy (AION) in an Arab population and to compare and contrast these findings with known epidemiological data from Caucasian populations.

Methods: A retrospective review of the medical records of all patients diagnosed with AION at the King Khaled Eye Specialist Hospital (KKESH) in Riyadh, Saudi Arabia, between 1997 and 2012.

Results: Of 171 patients with AION, 4 had biopsy-proven giant-cell arteritis (GCA).

Central Retinal Vein Occlusion in a Childhood Optic Nerve Tumour.

The authors describe the first paediatric patient with an aggressive optic nerve tumour of uncertain histology causing a central retinal vein occlusion, retinochoroidal collaterals, arteriovenous anastomoses, and peripheral retinal non-perfusion. He first presented with pale optic nerve head, followed by development of optic disc oedema a year later. Certain optic nerve tumours can present with central retinal vein occlusion in the paediatric age group.

The genetics of nonsyndromic bilateral Duane retraction syndrome.

Purpose: To assess the importance of monogenic mutations and chromosomal copy number variants (CNVs) in the occurrence of nonsyndromic bilateral Duane retraction syndrome (bilateral nsDRS).

Methods: The medical records of 12 patients with bilateral nsDRS were reviewed. Genes associated with DRS and associated congenital cranial dysinnervation disorders (SALL4, CHN1, HOXA1, TUBB3, and KIF21A) were sequenced in the standard fashion in each patient.

Coats-like retinopathy in Joubert syndrome.

An 11-year-old girl with Joubert syndrome was evaluated for a dim red reflex in her left eye. Fundus examination revealed retinal telangiectasias bilaterally compatible with Coats-like pigmentary retinopathy, a phenomenon not previously reported in Joubert syndrome. Coats-like exudative retinopathy may result in permanent visual loss if left untreated.

Duane retraction syndrome in a patient with Duchenne muscular dystrophy.

Purpose: We describe the clinical features of a boy with bilateral Duane retraction syndrome (DRS), Duchenne muscular dystrophy (DMD), and other medical problems.

Methods: The child was followed-up for five years; his chart was reviewed, including the results of a muscle biopsy and genetic testing. Multiplex ligation-dependent probe amplification (MLPA) was used to interrogate deletions/duplications in the dystrophin gene.

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

Background: The etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated genes and variant phenotypes associated with known genes.

Methods: We report a Saudi family with a neurodegenerative course dominated by progressive chorea and dementia in whom we performed homozygosity mapping and whole exome sequencing.

Results: We identified a homozygous missense mutation in GM2A within a prominent block of homozygosity.

Visual and neurologic sequelae of methanol poisoning in Saudi Arabia.

Objectives: To present the visual sequelae of methanol poisoning and to emphasize the characteristics of methanol exposure in the Kingdom of Saudi Arabia (KSA).

Methods: A retrospective case series was carried out on 50 sequential patients with methanol poisoning seen at the King Khaled Eye Specialist Hospital and King Saud University Hospitals in Riyadh, KSA between 2008 and 2014. All patients were examined by a neuro-ophthalmologist at least one month after methanol intoxication.

Cupping of the optic disk after methanol poisoning.

Purpose: To assess the frequency and significance of optic disk cupping after methanol poisoning.

Methods: We retrospectively reviewed the medical records of 50 consecutive patients with methanol poisoning, including visual acuity, pupillary reaction, and optic disk features such as the presence and degree of cupping. All patients were examined in the chronic phase after optic nerve damage.

Ocular motility abnormalities in orbitofacial neurofibromatosis type 1.

Purpose: To evaluate the causes of ocular motility disturbances in a group of patients with orbitofacial neurofibromatosis (OFNF) with neurofibromas on the lid, brow, face, or in the orbit from infancy or early childhood.

Methods: The medical records of patients with OFNF from one institution were retrospectively reviewed; selected patients were reexamined.

Results: A total of 45 patients with unilateral OFNF and 4 with bilateral OFNF were included.