A self-management intervention for people with multiple sclerosis: The development of a programme theory in the field of rehabilitation nursing.

Background: People with multiple sclerosis (PwMS) have recurrent stays in rehabilitation clinics because of progressive disease. Nurses are key players in supporting PwMS through self-management interventions. However, little is known about the effectiveness, or sustainability of nursing interventions.

Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.

Background: Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disease characterized by pruritic erythematous scaly plaques distributed along the lines of Blaschko. Two cases of ILVEN with CARD14 mutations and one case with a GJA1 mutation have been previously reported.

Objective: To elucidate the genetic cause of a cohort of patients diagnosed based on clinical and histopathological evaluation with ILVEN.

Patients with higher vitamin D levels show stronger improvement of self-reported depressive symptoms in psychogeriatric day-care setting.

Depression is a common psychiatric disorder among geriatric patients that decreases the quality of life and increases morbidity and mortality. Vitamin D as a neuro-steroid hormone might play a role in the onset and treatment of depression. In the present study, the association between depressive symptoms and vitamin D concentration in serum was evaluated.

Verruciform xanthoma of the upper-extremity in the absence of chronic skin disease or syndrome: a case report and review of the literature.

Verruciform xanthoma is a rare, benign lesion classically presenting on the oral mucosa or genital area. The etiology is not yet completely understood; however, verruciform xanthoma is often associated with (a) conditions of chronic inflammation or trauma, such as lichen sclerosis, recessive dystrophic epidermolysis bullosa, and pemphigus vulgaris, as well as in a setting of (b) chronic lymphedema, (c) chronic graft versus host disease, or (d) congenital epidermal nevi, such as those associated with the Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CHILD) syndrome. We report a case of a solitary verruciform xanthoma on the forearm of an 82-year-old man without history of chronic dystrophic skin disease or syndrome.

Diaphragmatic hernia with strangulated loop of bowel presenting after colonoscopy: case report.

Background: The incidence of diaphragmatic hernias caused or exacerbated by diagnostic colonoscopy is not well elucidated at this time, and is believed to be very rare.

Case Presentation: We present the case of a 57 year old man with remote history of traumatic injury who first presented with vague left shoulder pain for two weeks, mild anemia, and tested positive for fecal occult blood. Four days post colonoscopy the patient was found to have a strangulated loop of bowel herniated through the diaphragm into the left hemithorax.

Correlating corneal arcus with atherosclerosis in familial hypercholesterolemia.

Background: A relationship between corneal arcus and atherosclerosis has long been suspected but is controversial. The homozygous familial hypercholesterolemia patients in this study present a unique opportunity to assess this issue. They have both advanced atherosclerosis and corneal arcus.

Abnormal in vivo metabolism of apoB-containing lipoproteins in human apoE deficiency.

The present study was undertaken to elucidate the metabolic basis for the increased remnants and lipoprotein(a) [Lp(a)] and decreased LDL apolipoprotein B (apoB) levels in human apoE deficiency. A primed constant infusion of (13)C(6)-phenylalanine was administered to a homozygous apoE-deficient subject. apoB-100 and apoB-48 were isolated, and tracer enrichments were determined by gas chromatography-mass spectrometry, then kinetic parameters were calculated by multicompartmental modeling.

A systems modeling approach to the study of retinoid function: implications for evaluation of retinoids in cancer chemoprevention and/or chemotherapy.

We have used a mathematical/compartmental modeling approach along with a number of rationally designed complementary in vivo and in vitro systems to investigate the effects of administration of various retinoids and/or drug combinations on normal physiological metabolism of native retinoids. The present paper focuses on our studies of the synthetic retinoid 4-HPR and our use of fairly simple mathematical/compartmental modeling techniques to investigate how this retinoid affects the metabolism of native retinoid overall, as well as in two specific tissues, the prostate and the eyes. We have presented our work with this particular retinoid and these tissues as an example of the type of studies we have been doing and to present some of the information that one can obtain using this approach.

Comparative in vivo metabolism of apolipoproteins E2 and E4 in heterozygous apoE2/4 subjects.

Apolipoprotein E (apoE) exists in three common forms in humans: the wild-type apoE3 and two common genetic variants, apoE2 and apoE4. Although previous studies have examined the metabolism of the different apoE isoforms in human subjects, they have not involved direct comparison of two different isoforms in subjects heterozygous for the same two isoforms. We conducted this study to directly compare the catabolism of apoE2 and apoE4 in heterozygous E2/4 subjects in vivo.

Trisomy 4q syndrome: presentation of a new case and review of the literature.

We describe the 11th case of a de novo partial trisomy of the long arm of chromosome 4, with the extra segment spanning from 4q27 to 4q35. The aberration resulted from an unbalanced translocation of material from 4q to the short arm of chromosome 7, as evident from fluorescent in situ hybridization. Microsatellite analysis revealed the extra material to originate from the father.

Dose-dependent pharmacokinetics of amphotericin B lipid complex in rabbits.

Amphotericin B lipid complex (ABLC) was recently approved by the Food and Drug Administration for treatment of patients with invasive fungal infections who are intolerant of or refractory to conventional amphotericin B therapy. Little is known, however, about the pharmacokinetics of this new antifungal compound. We therefore investigated the pharmacokinetics of ABLC in comparison with those of conventional desoxycholate amphotericin B (DAmB) in rabbits.

Comparison of comparative genomic hybridization, fluorescence in situ hybridization and flow cytometry in urinary bladder cancer.

Comparative genomic hybridization (CGH) was applied to screen the genetic events in six invasive urinary bladder cancers. These cases were also studied by flow cytometry (FCM) and fluorescence in situ hybridization (FISH). Four samples showed partial gain on chromosome 8, with the common region involved was on 8q23-qter.

Upregulated synthesis of both apolipoprotein A-I and apolipoprotein B in familial hyperalphalipoproteinemia and hyperbetalipoproteinemia.

A family was identified with vertical transmission through three generations with simultaneous increases of apolipoprotein A-I (apoA-I), apolipoprotein B (apoB), low-density lipoprotein (LDL)-cholesterol, and high-density lipoprotein (HDL)-cholesterol, which we have designated familial hyperalphalipoproteinemia and hyperbetalipoproteinemia (HA/HBL). Affected patients develop xanthomas and coronary artery disease (CAD). HA/HBL apoA-I and LDL-apoB were isolated and characterized.

Delayed low density lipoprotein (LDL) catabolism despite a functional intact LDL-apolipoprotein B particle and LDL-receptor in a subject with clinical homozygous familial hypercholesterolemia.

We identified a 38-yr-old male patient with the clinical expression of homozygous familial hypercholesterolemia presenting as severe coronary artery disease, tendon and skin xanthomas, arcus lipoides, and joint pain. The genetic trait seems to be autosomal recessive. Interestingly, serum concentrations of cholesterol responded well to diet and statins.

Apolipoprotein B metabolism in hypertriglyceridemic diabetic patients administered either a fish oil- or vegetable oil-enriched diet.

The effect on apolipoprotein B kinetics of a diet enriched in either fish oil or safflower oil was investigated in five hypertriglyceridemic (HTG), non-insulin-dependent diabetic subjects. The fish oil diet decreased plasma triglycerides and VLDL-apoB but increased LDL-apoB and LDL-cholesterol. Total plasma apoB concentration did not change, nor did the increased VLDL-apoB secretion present in these HTG subjects, which, accompanied by impaired lipolysis, accounted for their elevated VLDL.

Intracellular trafficking of the free cholesterol derived from LDL cholesteryl ester is defective in vivo in Niemann-Pick C disease: insights on normal metabolism of HDL and LDL gained from the NP-C mutation.

Niemann-Pick C disease (NP-C) is a rare inborn error of metabolism with hepatic involvement and neurological sequelae that usually manifest in childhood. Although in vitro studies have shown that the lysosomal distribution of LDL-derived cholesterol is defective in cultured cells of NP-C subjects, no unusual characteristics mark the plasma lipoprotein profiles. We set out to determine whether anomalies exist in vivo in the cellular distribution of newly synthesized, HDL-derived or LDL-derived cholesterol under physiologic conditions in NP-C subjects.

Determination of the radiation dose from administered apolipoprotein tracers in humans.

Radioactive tracers are routinely used in investigation of the metabolism of apolipoprotein kinetics. Here, metabolic studies of apolipoprotein tracers labeled with radioiodine were analyzed to determine the absorbed radiation dose received by the subject. This analysis used compartmental modeling techniques to evaluate the radiation dose to various organs and the total body resulting from radioiodinated tracer injection.

Erdheim-Chester disease: low low-density lipoprotein levels due to rapid catabolism.

We have identified a 44-year-old patient with symmetrically excessive xanthomatosis, called Erdheim-Chester disease (ECD), and simultaneously decreased levels of low-density lipoprotein (LDL) cholesterol. Clinically, this patient presents lipoidgranulomatosis of numerous long and flat bones with involvement of the liver, spleen, pericardium, pleura, thyroid, skin, conjunctiva, and gingiva. However, the patient does not have any signs of atherosclerosis.

The 3H-leucine tracer: its use in kinetic studies of plasma lipoproteins.

3H-leucine administered as a bolus has been widely used as a tracer in kinetic investigations of protein synthesis and secretion. After intravenous injection, plasma specific radioactivity decays over several orders of magnitude during the first half-day, followed by a slow decay lasting a number of weeks that results from recycling of the leucine tracer as proteins are degraded and 3H-leucine reenters the plasma pool. In studies in which kinetic data are analyzed by mathematical compartmental modeling, plasma leucine activity is generally used as a forcing function to drive the input of 3H-leucine into the protein synthesis pathway.

Homozygous familial defective apolipoprotein B-100. Enhanced removal of apolipoprotein E-containing VLDLs and decreased production of LDLs.

Familial defective apolipoprotein B-100 (FDB) is a frequently inherited disorder of lipoprotein metabolism. The glutamine-for-arginine substitution at position 3500 of apolipoprotein (apo) B-100 leads to defective binding of apo B-100 to the low density lipoprotein (LDL) receptor and accumulation of LDL in the plasma. We recently identified a patient homozygous for this mutation.