Hereditary angioedema

Although the condition is rare, patients with hereditary angioedema often present because of abdominal pain or airway compromise. A 27-year-old woman presented to the emergency department in acute abdominal distress. Identification of the disease in this patient allowed for proper management and avoidance of invasive procedures. Pathophysiology, clinical manifestations, diagnosis, and therapy of hereditary angioedema are discussed.     

Editorial Commentary: Which to Fix—the Biceps or the Labrum? The Shoulder SLAP Tear Is Still Controversial

A type II SLAP tear in a young and active patient remains a controversial and challenging clinical entity. Arthroscopic repair is generally a successful procedure for type II SLAP lesions, but the results can be unpredictable. Biceps tenodesis has become increasingly popular for the management of these lesions, with recent clinical literature suggesting that the results may be equivalent or superior to those of SLAP repair. Recent meta-analyses have summarized the available clinical data and offered some guidance on which patients may benefit most from either procedure.     

Skeletal muscle satellite cell populations in healthy young and older men and women

The purpose of the present investigation was to assess satellite cell populations and morphology in m. vastus lateralis biopsies obtained from young (20-30 years) and older (65-75 years) healthy, sedentary men and women. Multiple muscle biopsies were obtained from 14 young individuals (men, n = 7; women, n = 7) and 15 older individuals (men, n = 8; women, n = 7). Muscle fibers were viewed longitudinally using a Zeiss EM 10 CA electron microscope. All myonuclei and satellite cells were counted and satellite cells were photographed for morphological analysis. The proportion of satellite cells [satellite cells/(myonuclei + satellite cells)] did not differ among the four subject groups (1.7-2.8%), nor did proportions differ when subject groups were combined for age and gender comparisons. Few morphological differences were noted between groups; however, lipofuscin granules were more prominent in satellite cells from older subjects and women demonstrated significantly larger satellite cell and satellite cell nucleus areas than men. Mitochondria from satellite cells (regardless of group) were more pallid and exhibited fewer cristae than mitochondria located in the adjacent muscle fiber. The results of the current investigation suggest that, despite findings in animal models, satellite cell populations are not significantly lower in healthy, sedentary older compared to young adult men and women.     

Pre-B cells and other possible precursor lymphoid cell lines derived from patients with X-linked agammaglobulinemia

A group of unique Epstein-Barr virus-containing cell lines was derived from the bone marrow of three patients with X-linked agammaglobulinemia. Efforts to obtain cell lines from the peripheral blood of these patients were uniformly unsuccessful. Immunofluorescence analyses as well as biosynthetic studies with [(35)S]methionine indicated unusual patterns of Ig synthesis in many of these bone marrow derived lines. Seven of the lines were of particular interest in that two produced no Ig of any type; two others showed no Ig by fluorescence but small amounts by [(35)S]methionine labeling; one expressed only cytoplasmic μ chains without any evidence of light chain synthesis, and two produced primarily μ chains with only slight amounts of light chains. One of the lines without membrane or cytoplasmic Ig studied in detail grew like a typical lymphoid line and was carried in intermittent culture over a period of 2 yr without Ig expression. One line grew quite differently and resembled the round cell type described previously, which has been obtained from a variety of sources. The cell line with cytoplasmic μ chains and no light-chain expression had the characteristic properties of pre-B cells. Three normal type Ig-producing cell lines also were obtained from the patients. The accumulated evidence obtained in the present study indicates that these unusual cell lines represent normal precursor cells of the B-cell lineage; these grew out in these cases because of the virtual absence of mature B cells that ordinarily overgrow the culture system. However, the possibility that in certain instances they reflect abnormal Ig synthesis characteristic of the disease has not been ruled out.     

Successful neurological outcome of a child with classical phenylketonuria and acute lymphoblastic leukemia: a 7-year follow-up

We report on the medical management and outcome of a child with classical phenylketonuria (PKU) who developed acute lymphoblastic leukemia (ALL). Chemotherapy began at 24 months of age. Initial problems associated with treatment lead to remarkable releases of phenylalanine, a neurotoxin. Causes included increased catabolism secondary to tumor lysis and chemotherapy, as well as infection, intermittent fasting and anorexia. Medical management involved daily monitoring of Phe levels and major changes in the amount of medical formula and the intake of protein containing foods in the diet. The child is currently in remission from ALL and has a normal neurodevelopmental outcome 7 years after the ALL diagnosis.     

Diversity within the DRB1*08 allele family in four populations from a United States hematopoietic stem cell donor database and characterization of five novel DRB1*08 alleles

The frequencies of DRB1*08 alleles within four major United States populations found within a hematopoietic stem cell volunteer donor database were determined by DNA sequencing of over 60 DRB1*08 positive individuals from each group. Seven of 30 known DRB1*08 alleles were identified within this study population (080101, 080201, 080302, 080401, 0806, 0807, and 0811). Each ethnic group was characterized by a different highly prevalent allele: DRB1*080101 in Caucasians; DRB1*080401 in African-Americans; DRB1*080302 in Asians; and DRB1*080201 in Hispanics. The alleles DRB1*080101, DRB1*080201, and DRB1*080401 were present in all four populations. This report also describes five novel DRB1*08 alleles uncovered during routine human leukocyte antigen typing.