Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.

Background: Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders affecting millions worldwide. Despite the widespread adoption of next-generation sequencing (NGS) panels, there remains a critical gap in the genetically diverse and understudied African populations.

Methods: One hundred and thirty-five South African patients affected by various IRDs underwent NGS using a custom-targeted panel sequencing over 100 known genes.

Human Leukocyte Antigen-Allelic Variations May Influence the Age at Cancer Diagnosis in Lynch Syndrome.

Lynch syndrome (LS) is an inherited cancer predisposition disorder associated with an elevated risk of developing various solid cancers, but mostly colorectal cancer (CRC). Despite having the same germline pathogenic variant (PV) in one of the mis-match repair genes or the gene, Lynch syndrome variant heterozygotes (LSVH) exhibit a remarkable phenotypic variability in the risk of developing cancer. The role of human leukocyte antigen (HLA) in modifying cancer development risk prompted our hypothesis into whether HLA variations act as potential genetic modifiers influencing the age at cancer diagnosis in LSVH.

Art and Pediatric Orthopaedics: Repin and Inclusiveness.

A famous painting of the 19th century, by Ilia Repin, of a religious procession depicts the pageantry of the event but also draws the attention of the viewer to the exclusion of a disabled child from the festivities.

Genetic insights: High germline variant rate in an indigenous African cohort with early-onset colorectal cancer.

Introduction: The increase in incidence of colorectal cancer in young patients of African ancestry coupled with increased aggressiveness has warranted investigation of the heritable nature of these cancers. Only a limited number of published reports of hereditary colorectal cancer in indigenous African populations have been reported and no systematic screening of these groups has been performed previously. We aimed to investigate causative germline variants and to establish the incidence of pathogenic/likely pathogenic germline variants in the known colorectal cancer genes in indigenous African colorectal cancer patients using a next-generation sequencing (NGS) multigene panel.

Art and Pediatric Orthopaedics: "Arm-twisting" by Wyspianski, the Poet, Actor, and Artist.

Stanislaw Wyspianski, a multifaceted Polish artist painted "A Girl with a Red Hat", which portrays a young girl with an obviously deformed right upper limb. The pattern of deformities is suggestive of either athetoid hemiplegic cerebral palsy or Erb's palsy.

Back to Carracci.

Annibale Carracci's sketch of a boy with a hunchback conveys the boy's emotions remarkably well. The possibilities of the underlying cause of the spinal deformity and its neurologic complications are discussed.

Art and Paediatric Orthopaedics: A Sixteenth Century Lie-down Comedian.

This outstanding painting, by an unknown artist, of a man with multiple deformities compatible with a diagnosis of arthrogryposis multiplex congenita induces the viewer to think deeply about the artist's portrayal of the subject.

Art and Pediatric Orthopaedics: Cot and the Crutch.

Pierre Auguste Cot's painting, "Mireille giving alms at the door of Saint-Trophime," depicts a wealthy lady giving alms to a crippled beggar boy. The beautiful painting portrays the striking contrast between the rich and the poor. The painting also draws attention to the crude crutch the boy was using.

Art and Pediatric Orthopaedics: Monet and a Twist in Time.

The work of art by Monet shows a young child sitting with the toes turned inwards. The cause is probably due to femoral anteversion.

Copping Coping With the Braced Limbs.

Harold Copping illustrated an edition of Charles Dickens' classic, "A Christmas Carol." One of the paintings of Bob Cratchit and Tiny Tim in the book shows Tiny Tim wearing braces on his lower limbs. Several diagnoses of Tiny Tim's ailment have been suggested in the past but based on the details of Copping's painting we suggest that he had rickets.

Collins, Bruegel, and the Games They Play.

William Collins and Pieter Bruegel the Elder in their respective paintings, "Happy as a King" and "Children's Games" show children playing outdoors. The types of injuries these children could sustain in the 16th and 19th centuries are contrasted with sports related pediatric fractures in the present day.

Raphael at the Temple.

Raphael, in his painting "Healing of the Lame Man" shows one lame man encountering St. Peter and St. John while another lame man waits his turn.

Art and Pediatric Orthopaedics: Velazquez, an Artist of Stature.

Diego Velazquez painted several dwarfs employed at the Royal Court of Spain and one of the best known among them is the painting of Sebastian de Morra, a court jester. The clarity of the painting enables the reader to make a diagnosis of achondroplasia.

Bruegel and the Cost of the Bended Knee.

In Pieter Bruegel's painting, "The Seven Acts of Charity" he portrays 2 subjects with flexed knees. One of them cannot walk while the other can walk but does so with excessive energy expenditure.

Carry on With Raja Ravi Varma, Mary Cassatt, and Renoir.

Raja Ravi Varma's painting "There Comes Papa" depicts his daughter carrying her son astride her hip. The positive implication of the posture of the hips of the child while being carried in this manner on acetabular development is discussed.

Demographic and Clinical Profile of Invasive Staphylococcal Infections in Children Admitted to Pediatric Intensive Care Unit: A Retrospective Study.

Objective: Staphylococcal infections are common cause of morbidity and mortality in pediatric intensive care unit (PICU). The objective of this study was to describe the clinical and microbial features, and outcome of patients with invasive staphylococcal infection.

Materials And Methods: We conducted a retrospective chart review of the children admitted to PICU with invasive staphylococcal infections.

The impact of the c.5603A>T hypomorphic variant on founder mutation screening of for Stargardt disease in South Africa.

Purpose: Seven founder mutations in underlie a large proportion of Stargardt disease in the South African Caucasian population of Afrikaner descent. The Quick 7 assay was locally developed to test for these specific mutations and is available through the National Health Laboratory Service. However, in 2017 it was suggested that one of these mutations, c.

Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B.

More than two decades ago, a recessive syndromic phenotype affecting kidneys, eyes, and ears, was first described in the endogamous Afrikaner population of South Africa. Using whole-exome sequencing of DNA from two affected siblings (and their carrier parents), we identified the novel RRM2B c.786G>T variant as a plausible disease-causing mutation.

De Novo Assembly-Based Analysis of Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline.

exon ORF15 variants are one of the most frequent causes for inherited retinal disorders (IRDs), in particular retinitis pigmentosa. The low sequence complexity of this mutation hotspot makes it prone to indels and challenging for sequence data analysis. Whole-exome sequencing generally fails to provide adequate coverage in this region.

Personalized Human Papillomavirus Vaccination for Persistence of Immunity for Cervical Cancer Prevention: A Critical Review With Experts' Opinions.

The development of cervical cancer has been shown to involve both viral and host factors. The host factors are those that determine the specific response to human papillomavirus (HPV) infection by the patient's immune system. The immune responses to vaccines have been shown to be influenced by polymorphisms in genes involved in innate and adaptive immunity.

Update on Inherited Retinal Disease in South Africa: Encouraging Diversity in Molecular Genetics.

There is a glaring disparity in the populations included in genetic research; the majority of work involves European-derived cohorts, while other global populations - including Africans - are underrepresented. This is also true for the study of inherited retinal diseases. Being the most ancient of extant populations, African samples carry more variation than others, making them valuable for novel gene and variant discovery.