Hand and foot abnormalities associated with genetic diseases

Introduction  

The small bones and soft tissues of the hands and feet can be affected by systemic disorders, and frequently, the findings are quite unique and virtually diagnostic for some genetic or metabolic disorders.     

Hyperbaric Oxygen as an Adjunct in Zygomycosis: Randomized Controlled Trial in a Murine Model

Zygomycosis was induced by injecting CD-1 mice with 5 mg of intraperitoneal deferoxamine and then 10(6) CFU of intravenous and intrasinus Rhizopus arrhizus. The addition of hyperbaric oxygen (2.0 atm absolute twice daily) to amphotericin B did not improve survival over that achieved with amphotericin B and placebo air treatments.     

Growth of xylitol-resistant versus xylitol-sensitive Streptococcus mutans strains in saliva

Five Streptococcus mutans pairs (serotype c S. mutans 10449 and four clinical isolates of S. mutans: 123.1, LG1, OMFA, T10B) were used to find out if the xylitol-resistant (X^R) natural mutants of the corresponding xylitol-sensitive (X^S) S. mutans parental strains differ in their growth patterns in saliva. The isogenic X^R natural mutants of the parental S. mutans strains were selected after sequential cultivations in the presence of xylitol and glucose. The X^R/X^S strains pairs were grown in individual and pooled glucose-supplemented filter-sterilized salivas (one to five sequential cultivations). The two salivas used represented subjects with good or poor support of the growth of S. mutans in vivo. Protease and peptidase activities were determined from the saliva growth media and cell suspensions. Salivary protein profiles were analyzed using SDS-PAGE and native IEF before and after the cultivations. The growth properties of the X^R/X^SS. mutans pairs were similar in both individual and pooled salivas. Sequential cultivation of all strains did not show any differences in growth patterns. X^S strains were inhibited by the presence of xylitol (2% w/v) in pooled saliva, as shown for other glucose-supplemented media. Protease and peptidase activities of the X^R/X^SS. mutans pairs were low and of similar magnitude. Also, the general hydrolytic properties of most X^R/X^SS. mutans pairs appeared similar as judged by the small growth-induced changes in salivary protein profiles. In conclusion, saliva, the source of nutrients for salivary microorganisms in vivo, favored neither the X^R nor the X^S strains of S. mutans.     

Role of surgical lung biopsy in separating chronic hypersensitivity pneumonia from usual interstitial pneumonia/idiopathic pulmonary fibrosis: analysis of 31 biopsies from 15 patients

BACKGROUND: Lung biopsy has been proposed as a criterion for diagnosis of chronic hypersensitivity pneumonia (HP), especially in patients without proven antigen exposure. Histologic findings in some suspected HP patients overlap with usual interstitial pneumonia (UIP) and nonspecific interstitial pneumonia (NSIP). We reviewed our experience to determine the specificity of histologic findings in surgical lung biopsies from patients with clinical diagnoses of HP. METHODS: Surgical lung biopsies from patients with chronic HP, idiopathic pulmonary fibrosis, and idiopathic NSIP were reviewed retrospectively without knowledge of the clinical diagnosis. Each specimen was assigned a histologic diagnosis, and selected histologic findings were tabulated. Clinical data were abstracted from medical records. RESULTS: Fifteen patients with clinical diagnoses of chronic HP underwent biopsy of one to three lobes. Ten showed features diagnostic of HP in all specimens. Two had discordant findings that included HP in one specimen and UIP or nonspecific changes in others. Biopsies from two showed only UIP, and one showed NSIP. Diagnostic features were present in all samples from 9 of the 11 patients with more than one biopsy site (81.8%). Three patients died of disease, including both patients from whom biopsies showed only UIP. CONCLUSIONS: Most patients with a clinical diagnosis of chronic HP have supportive histologic findings in surgical lung biopsies. A subset of HP patients has findings indistinguishable from UIP. Sampling from more than one lobe may be helpful in separating HP from idiopathic pulmonary fibrosis.     

Resolving Human Lactation Heterogeneity Using Single Milk-Derived Cells,a Resource at the Ready

Journal of Mammary Gland Biology and Neoplasia - Single cell RNA sequencing (scRNAseq) of human milk-derived cells (HMDCs) makes highly detailed analyses of the biology of human lactation possible....