Siblings with vitamin D-dependent rickets type 1A: Importance of genetic testing and a review of genotype-phenotype correlations.

Vitamin D-dependent rickets type 1A (VDDR1A) is a rare condition caused by biallelic pathogenic variants in CYP27B1, which encodes 25-hydroxyvitamin D3-1-α-hydroxylase. Inadequate activity of this enzyme results in deficient 1α-hydroxylation of inactive 25-hydroxyvitamin D to biologically active 1,25-dihydroxyvitamin D, with consequent adverse effects on calcium and phosphate metabolism. A female child was clinically diagnosed at 18 months old with hypophosphatemic rickets based on phenotype and biochemical testing, with neither parent affected. A subsequent affected male sibling led to the reconsideration of the diagnosis. Exome sequencing showed a homozygous CYP27B1 c.1040T>A (p.Ile347Asn) variant for both children. No variants were found in genes associated with hypophosphatemic rickets. A review of published cases of VDDR1A with homozygous CYP27B1 variants indicates variable clinical presentation, lack of genotype-phenotype correlation, and low serum phosphate at diagnosis in most cases. These findings emphasize the clinical importance of molecular testing as part of the diagnostic evaluation for cases of non-nutritional rickets.

Balancing Honesty and Hope: The Art of Truth-Telling in Medicine.

"Is there any hope I can walk again?"I looked up to see an elderly man lying in the hospital bed struggling to put on his portable hearing aid. I gently removed his blanket to help untangle the wires, exposing his frail body in the process.

Assessing the Readability of Online English and Spanish Language Patient Education Resources Provided by the American Society of Plastic Surgeons, American Society of Aesthetic Plastic Surgeons, and American Society of Reconstructive Microsurgeons.

INTRODUCTION: The National Institutes of Health recommends that patient education materials (PEMs) be written at the sixth grade level. However, PEMs online are still generally difficult to read. The usefulness of online PEMs depends on their comprehensibility. OBJECTIVES: This study assessed the readability of PEMs from national Plastic and Reconstructive Surgery (PRS) organization websites. METHODS: Patient education materials were collected from 3 prominent PRS organizations-the American Society of Plastic Surgeons (ASPS), American Society of Aesthetic Plastic Surgeons (ASAPS), and the American Society of Reconstructive Microsurgeons (ASRM). ASPS PEMs were organized into reconstructive and cosmetic groups, and then further subdivided into English and Spanish subgroups. ASAPS and ASRM PEMs provided cosmetic and reconstructive comparison groups to ASPS, respectively. Readability scores were generated using the Simple Measure of Gobbledygook (SMOG) and the Spanish SMOG scales. RESULTS: Overall, all PEMs failed to meet readability guidelines. Within ASPS, Spanish PEMs were easier to read than English PEMs ( P < 0.001), and cosmetic PEMs were easier to read than reconstructive PEMs ( P < 0.05). There was no significant difference between ASPS cosmetic and ASAPS PEMs ( P = 0.36), nor between ASPS reconstructive and ASRM PEMs ( P = 0.65). ASAPS and ASRM did not have any Spanish PEMs, and 92% of all ASPS PEMs were in English. CONCLUSION: Although PRS societies strive to better educate the public on the scope of PRS, PRS ranks lowly in public understanding of its role in patient care. In addition, Spanish language PEMs from the 3 PRS organizations are severely lacking. Addressing these concerns will make online patient resources more equitable for various patient populations.

War on Rats: the architecture of the bubonic plague in Galveston.

Galveston, Texas is one of the oldest seaport cities in the Gulf of Mexico west of New Orleans, making it a historically prime location for disease outbreaks. The bubonic plague bacterium, Yersinia pestis, likely spread to Galveston via infected rats and fleas on steamboats. Known as the Black Death, the bubonic plague infected 17 Galvestonians from 1920 to 1921. This article examines the "War on Rats," the public health response to the Galveston bubonic plague outbreak in the 1920s. As part of public health practices at the time, the rat-proofing of buildings provides a glimpse into the intersection of public health and architecture. This exploration of the war on rats in Galveston offers insights into 20th-century examples of cross-disciplinary collaboration to promote human health in urban contexts.

The human side of medicine-lessons from a student-run clinic.

In this narrative account, I describe my first experience as a medical student volunteering at a student-run clinic in Galveston, Texas. I witness the stark contrast between medicine in the classroom and medicine in the clinic. This article explores the importance of clinical exposure in learning about the human side of medicine from the perspective of a medical student.