An overview of 1p36 deletion syndrome and carcinogen genes; a role of genomics in everyday medicine

1p36 deletion syndrome is a relatively common deletion syndrome with an incidence of 1 in 5000 births, making it the most common terminal deletion in humans. 1p36 deletion manifests with an array of phenotypic alterations including, but not limited to, intellectual disability, seizure disorder, dysmorphic facial features, congenital heart defects, and hypothyroidism. According to genetic literature widely available to patients and clinicians, such as ONIN and Gene Reviews, malignancy is not a common manifestation of this syndrome. This case, however, demonstrates malignancy as a consequence of 1p36 deletion syndrome

Effects of Cervical Spine Exercise Protocol on Neck Pain, Pericervical Muscle Endurance, and Range of Motion in Medical Students: A Prospective Study.

Introduction Neck pain is a common and debilitating ailment that places a significant burden on the healthcare system. No practical protocols have been published utilizing a portable, commercially available, and affordable device that significantly reduces acute and chronic neck pain. Methods Forty-six young adults with or without mild-to-moderate neck pain completed a six-week neck stretching and strengthening protocol with a portable cervical stretching and strengthening device. The primary outcome was changes to pericervical muscle endurance. Secondary outcomes were changes to cervical range of motion (ROM), neck length, circumference, and subjective pain, flexibility, and strength. Measurements were obtained on study days 0, 21, and 42. Results A significant increase in pericervical muscle endurance was demonstrated across all planes of cervical motion, ranging from 84% to 105%. Cervical ROM improved across all planes of motion but was only significant in right-side bending (5.3°), left rotation (6.2°), and right rotation (7.8°). Subjective pain evaluated via the Numeric Rating Scale (NRS) saw statistically significant improvement as well (1.33 to 0.51). Subjective assessment of participant cervical pain, strength, and flexibility improved 61.3%, 95.7%, and 97.8%, respectively. Conclusions A six-week pericervical muscle stretching and strengthening program increased pericervical endurance and ROM in young adults. Decreased cervical pain was seen using the NRS and modified pain scale across most participants

Histopathologic Characterization of the Expression of Vascular Endothelial Growth Factor in a Case of Retinopathy of Prematurity Treated With Ranibizumab

To characterize the expression of vascular endothelial growth factor (VEGF) in a patient with retinopathy of prematurity (ROP) treated with ranibizumab (Case 1) and compare it with a case of ROP without treatment (Case 2), a case of a premature baby without ROP (Case 3), and a case of a baby without history of ROP or prematurity (Case 4). Observational case series. The eyes of the deceased babies were removed postmortem and were sent to the Florida Lions Ocular Pathology Laboratory, where they were processed. The specimens were immunostained using an antibody against VEGF. All eyes except for the eyes in Case 4 disclosed positive VEGF staining. Positive staining was present within the nerve fiber layer, inner plexiform layer, and inner and outer nuclear layers and within the spindle-shaped cell population in the vanguard in Case 1. In the posterior pole, positive staining was only observed at the level of the nerve fiber layer. This case also demonstrated less positive staining when compared with Case 2, where positive staining was found within all layers of the retina. Less VEGF staining was observed within the retina of the eyes treated with ranibizumab when compared with the VEGF staining in Case 2. This supports the idea that anti-VEGF agents are effective in reducing the amount of VEGF present in the retina. Furthermore, the fact that some expression of VEGF remains in the immature retina after injection supports the idea that anti-VEGF agents can suppress uncontrolled neovascularization without completely blocking the vascular drive for the vascularization of the immature retina