The fragile X syndrome.

The fragile X syndrome is characterised by mental retardation, behavioural features, and physical features, such as a long face with large protruding ears and macro-orchidism. In 1991, after identification of the fragile X mental retardation (FMR1) gene, the cytogenetic marker (a fragile site at Xq27.3) became replaced by molecular diagnosis.

Efficacy of interferon dose and prediction of response in chronic hepatitis C: Benelux study in 336 patients.

Background/aims: In an attempt to improve the limited efficacy of treatment of chronic hepatitis C with interferon-alpha 3 MU tiw, we studied the effects of double-dose therapy followed by downward titration, and analyzed the pre- and pertreatment factors associated with response or non-response.

Methods: Three hundred and fifty-four consecutive patients in 19 centers were randomized to interferon-alpha 3 MU tiw for 6 months or 6 MU tiw for 8 weeks followed by down-titration (3,1 MU tiw) till alanine aminotransferase remained normal and plasma HCV RNA was repeatedly undetectable. The primary outcome measure was sustained alanine aminotransferase and HCV RNA response 6 months after treatment.

The TNF-alpha system after successful living-related kidney transplantation.

The TNF-alpha system is thought to play a central role in the reduced immunity of haemodialysis patients. The imbalance between the high levels of soluble TNF receptors R1 and R2 and the low levels of immunoactive TNF-alpha results in an increased TNF-alpha buffering capacity leading to reduced immune responses. Apart from impaired renal clearance of the receptors, inefficient TNF-alpha production as a result of the uraemia may also contribute to the imbalance between this cytokine and its receptors.

The additional effects of acipimox to simvastatin in the treatment of combined hyperlipidaemia.

Objectives: Nicotinic acid, an effective drug for treatment of combined hyperlipidaemia, is often not tolerated because of side-effects. Acipimox is a nicotinic acid like lipid lowering drug with less side-effects. We studied whether the addition of acipimox to simvastatin improves the lipid profile in patients with a combined hyperlipidaemia.

Gemfibrozil decreases autoantibodies against oxidized low-density lipoprotein in men with combined hyperlipidaemia.

Objectives: Gemfibrozil is the most widely used fibric acid for the management of combined hyperlipidaemia. It has beneficial effects in the prevention of coronary heart disease (CHD). The mechanisms by which it exerts this effect are not completely resolved.

Intranasal cold dry air is superior to histamine challenge in determining the presence and degree of nasal hyperreactivity in nonallergic noninfectious perennial rhinitis.

The objective of the study was to compare cold dry air (CDA) and histamine in differentiating patients with nonallergic noninfectious perennial rhinitis (NANIPER) from control subjects. Nasal reactivity (nasal patency, mucus production, and sneezing) in 16 symptomatic nonsmoking patients with NANIPER and seven nonsmoking control subjects was measured with standardized CDA and histamine provocation series in a randomized crossover study. Intranasal CDA resulted in increased mucus production and nasal blockage in a dose-dependent manner in patients with NANIPER but not in control subjects.

Estrogen replacement decreases the level of antibodies against oxidized low-density lipoprotein in postmenopausal women with coronary heart disease.

The effect of estrogen replacement therapy (ERT) on plasma lipid concentrations and oxidation parameters was studied in 25 hypercholesterolemic women with coronary heart disease (CHD). During ERT, the low-density lipoprotein cholesterol (LDLc) concentration decreased from 4.31 +/- 0.

Internalization of radiolabelled [DTPA0]octreotide and [DOTA0,Tyr3]octreotide: peptides for somatostatin receptor-targeted scintigraphy and radionuclide therapy.

We compared the internalization of [90Y-DOTA0,Tyr3]octreotide and [111In-DOTA0,Tyr3]octreotide with that of [125I-Tyr3]octreotide and [111In-DTPA0]octreotide in the subtype 2 somatostatin receptor (sst2)-positive rat pancreatic tumour cell lines CA20948 and AR42J and in the somatostatin receptor-negative human anaplastic thyroid tumour cell line ARO. We demonstrated that [111In-DTPA0]octreotide, [90Y-DOTA0,Tyr3]octreotide and [111In-DOTA0,Tyr3]octreotide are internalized by a receptor-specific, time- and temperature-dependent process. The amount of [90Y-DOTA0,Tyr3]octreotide internalized was higher than that of [111In-DOTA0,Tyr3]octreotide and [111In-DTPA0]octreotide.

99mTc-MIBI, 99mTc-tetrofosmin and 99mTc-Q12 in vitro and in vivo.

The aim of this study was to compare uptake of 99mTc-MIBI, 99mTc-tetrofosmin and 99mTc-Q12 in vitro and biodistribution in vivo in rats. In vitro, uptake decreased in the order MIBI-->tetrofosmin-->Q12. Uptake of MIBI and tetrofosmin, but not of Q12, in cultured tumor cells was dependent on the plasma membrane and mitochondrial potential.

2-Methoxyisobutylisonitrile probe during parathyroid surgery: tool or gadget?

The success of parathyroid surgery is determined by the identification and removal of all parathyroid tumors. Parathyroid tumors accumulate and retain 2-methoxyisobutylisonitrile (MIBI) labeled with technetium-99m. Intravenous injection of this radiopharmacon prior to parathyroid surgery allows identification of parathyroid tumors with a hand-held gamma detector.

Tissue distribution and metabolism of radioiodinated DTPA0, D-Tyr1 and Tyr3 derivatives of octreotide in rats.

Unlabelled: Lesions containing somatostatin receptors (SSR) in rats and in man can be visualized in vivo using radiolabeled octreotide (OCT) analogs. SSR scintigraphy was initially performed with [123I-Tyr3]OCT and later with [111In-DTRA0]OCT. With the latter the residence time of radioactivity (111In) in SSR-positive targets is prolonged, most probably due to the DTPA group.

Effect of a nasal dilatator on nasal patency during normal and forced nasal breathing.

A nasal dilatator contains two elastic strips, which provide the dilatator with a spring action. The aimed function of the nasal dilatator is to slightly open the nares and hereby facilitate nasal breathing. The aim of this study was to evaluate the effect of a nasal dilatator by measuring nasal airway resistance during normal breathing and nasal forced expiratory and inspiratory flows and volumes with and without use of the nasal dilatator.

Rectal wall contractility in response to an evoked urge to defecate in patients with obstructed defecation.

Purpose: The aim of this study was to examine rectal sensory perception and rectal wall contractility in response to an evoked urge to defecate and to identify differences between control subjects and patients with obstructed defecation.

Methods: Twenty control patients (10 men; median age, 47 (range, 17-78) years) and 29 female patients with disabling obstructed defecation (median age, 48 (range, 18-70) years) entered the study. Under radiologic control, an infinitely compliant barostat balloon was inserted over a guide wire into the proximal part of the rectum.

Clinical outcome of anterior overlapping external anal sphincter repair with internal anal sphincter imbrication.

Unlabelled: Fecal incontinence caused by overt anterior sphincter defects sustained during childbirth is usually treated by a delayed overlapping repair of the external anal sphincter. However, an obstetric trauma is frequently associated with disruption of the perineal body and loss of the distal rectovaginal septum. Data regarding a combined repair, consisting of restoration of the rectovaginal septum and perineal body, overlapping external anal sphincter repair, and imbrication of the internal anal sphincter, are scanty.

Expression of aminopeptidase N and dipeptidyl peptidase IV in the healthy and asthmatic bronchus.

Background: Asthma is characterized by reversible airway obstruction, airway hyperresponsiveness, and chronic inflammation of the airways. Since peptides are able to produce many of the pathophysiological features which are characteristic of asthma, peptide-mediated inflammation is thought to play a role in this disease. The effects of peptides are modulated by peptidases, which are able to degrade peptides, mostly resulting in their inactivation.

Occupational allergy caused by flowers.

We describe 14 consecutive patients with complaints due to the handling of flowers. The symptoms varied from allergic rhinoconjunctivitis and asthma to urticaria. Most patients had professions in the flower industry.

Giant esophageal polyp: a clinical and radiological entity with variable histology.

Giant pedunculated esophageal polyps are very rare. They may stay asymptomatic for a long time, and first come to the attention of the patient and the clinician after regurgitation into the mouth. Regurgitation, however, can be dangerous and has been known to lead to asphyxia and death due to closure of the larynx by the polyp mass.

Somatostatin receptor scintigraphy using [111In-DTPA0]RC-160 in humans: a comparison with [111In-DTPA0]octreotide.

Somatostatin receptor-positive lesions can be visualized by scintigraphy using [111In-DTPA0]octreotide. Recently, there have been reports of differences in receptor binding between somatostatin receptor subtypes and between somatostatin analogues, such as RC-160 and octreotide, as well as of differences in internalization between the somatostatin receptor subtypes. The possibility that certain somatostatin receptor-positive tissues and tumours which do not bind octreotide may bind and internalize RC-160 would open new scintigraphic or radiotherapeutic applications of radiolabelled RC-160.