Cytochrome oxidase deficiency presenting as birth asphyxia

Hypoxic-ischaemic encephalopathy (HIE) was diagnosed in an infant with acidosis. At 7 weeks of age further investigations revealed abnormal neuroimaging (CT and MRI scans) and a raised plasma and CSF lactate. A skeletal-muscle biopsy at 2 months of age confirmed the diagnosis of cytochrome oxidase deficiency. The course of the patient's disorder has taken that of a static encephalopathy (cerebral palsy). Inborn disorders of the respiratory chain should be considered in the differential diagnosis of HIE.     

Stereopsis and long-term stability of alignment in esotropia.

PURPOSE: Recent studies of infantile and accommodative esotropia (ET) have focused on stereoacuity as a final outcome measurement for judging the success or failure of treatment. The purpose of the present study was to extend this approach by evaluating whether the presence of stereopsis developing immediately after surgical alignment or optical correction plays a role in maintenance of long-term alignment. METHODS: Random-dot stereoacuity was assessed within 3 months of initial surgical alignment in 70 children with infantile ET and within 3 months of initial optical correction in 66 children with accommodative ET. At > or = 5 years of age, adverse outcomes were assessed including loss of alignment, amblyopia, and nil stereopsis. Risk-factor analysis was used to evaluate whether early nil stereopsis increased the risk for subsequent adverse outcomes. RESULTS: In the infantile ET cohort, early nil stereopsis was associated with a 3.6 times (95% confidence interval [CI] 2.4 to 4.1) greater risk of surgery for recurrent ET or consecutive exotropia and a 4.2 times (95% CI 3.3 to 4.4) greater risk for nil stereopsis at > or = 5 years of age. In the accommodative ET cohort, early nil stereopsis was associated with a 17.4 times (95% CI 3.3 to 32.2) greater risk of surgery for ET and a 32.2 times (95% CI 15.8 to 35.6) greater risk for nil stereopsis at > or = 5 years of age. CONCLUSION: Treatment protocols designed to optimize stereoacuity outcomes promote long-term stability of alignment.     

Characterization of long‐term outcomes for pediatric patients with epithelioid hemangioma

Epithelioid hemangioma (EH) is a rare benign vascular tumor that occurs in soft tissues and bone and presents between the third and sixth decades of life. Little is known about the clinical course and outcomes of pediatric EH. We report 11 patients diagnosed with EH at a median age of 14.4 years. One patient treated with interferon and one with sirolimus exhibited partial response for >2 years. Although a benign neoplasm, EH is difficult to manage without standard protocols and portends considerable morbidity. Our findings suggest medical management, particularly sirolimus, may benefit these patients; however, long‐term follow‐up is needed.     

The impact of age and comorbidities on practice patterns and outcomes in patients with relapsed/refractory multiple myeloma in the era of novel therapies

Objectives

One-third of patients with multiple myeloma (MM) are diagnosed at age ≥ 75 years. Older patients have increased incidence of cardiovascular disease (CVD) and renal insufficiency (RI), hallmark complications of MM. We examined cumulative incidence of CVD and RI in relapsed/refractory MM (RRMM) and outcomes by age and RI/CVD.

Effects of histamine-receptor antagonists on histamine-stimulated renin secretion

The effects of histamine H1- and H2-receptor antagonists on histamine-stimulated renin secretion were examined in anesthetized dogs. Tripelennamine (H1 blocker) further enhanced renin secretion in the presence of exogenous histamine. Moreover, tripelennamine alone increased renin secretion. These effects are probably due to non-specific properties of the drug and not to interaction of tripelennamine with H1 receptors. Conversely, cimetidine (H2 blocker) significantly inhibited histamine-induced increases in renin secretion, renal blood flow, and sodium excretion without any changes in mean arterial blood pressure or glomerular filtration rate. Cimetidine alone had no effect. We conclude that H2 receptors mediate the effect of histamine on renin secretion in dogs with innervated, intact kidneys.     

Separation of ribonucleotides, deoxynucleotides, cyclic nucleotides and deoxycyclic nucleotides by reversed-phase high-performance liquid chromatography

A reversed-phase gradient elution system with methanol-triethylammonium phosphate buffer (83.3 mM, pH 6.0) as eluent on C(18)-bonded silica is described for the separation of 38 ribonucleotides, deoxynucleotides, cyclic nucleotides and deoxycyclic nucleotides in less than 33 min. The retention of the nucleotides can be precisely controlled by adjusting the pH, buffer concentration and methanol content in the mobile phase. The system is especially useful for the analysis of low levels of cyclic nucleotides in cells and tissues.     

Simian Varicella Virus Pathogenesis in Skin during Varicella and Zoster

Primary simian varicella virus (SVV) infection and reactivation in nonhuman primates is a valuable animal model in the study of varicella zoster virus disease [varicella (chickenpox) and herpes zoster (shingles)]. To understand SVV pathogenesis in skin, we inoculated 10 rhesus macaques with SVV, resulting in varicella rash. After the establishment of latency, eight of the monkeys were immunosuppressed using tacrolimus with or without irradiation and prednisone and two monkeys were not immunosuppressed. Zoster rash developed in all immunosuppressed monkeys and in one non-immunosuppressed monkey. Five monkeys had recurrent zoster. During varicella and zoster, SVV DNA in skin scrapings ranged from 50 to 10⁷ copies/100 ng of total DNA and 2–127 copies/100 ng of total DNA, respectively. Detection of SVV DNA in blood during varicella was more frequent and abundant compared to that of zoster. During varicella and zoster, SVV antigens colocalized with neurons expressing β-III tubulin in epidermis, hair follicles, and sweat glands, suggesting axonal transport of the virus. Together, we have demonstrated that both SVV DNA and antigens can be detected in skin lesions during varicella and zoster, providing the basis for further studies on SVV skin pathogenesis, including immune responses and mechanisms of peripheral spread.