Phenotypic expression of familial amyloid polyneuropathy in Brazil.

Familial amyloid polyneuropathy (FAP) is an inherited amyloidosis mainly associated with transthyretin Val30Met variant. Clinical heterogeneity has been reported in different populations with FAP and Va130Met variant. In order to characterize FAP expression in Brazilians and to compare its features to those reported in other cohorts, 44 Brazilian patients (27 females, median age 36 [23-53] years) with FAP and the Val30Met variant were investigated.

Inhibitory effect of sildenafil on rat duodenal contractility in vitro: putative cGMP involvement.

1. Sildenafil citrate (Viagratrade mark; Pfizer, Sandwich, Kent, UK), a phosphodiesterase 5 inhibitor, rises cGMP levels in smooth muscle cells. It relaxes both vascular and visceral smooth muscle.

A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy.

Background: Familial Juvenile Hyperuricemic Nephropathy is an autosomal dominant nephropathy, characterized by decreased urate excretion and progressive interstitial nephritis. Mutations in the uromodulin coding UMOD gene have been found responsible for the disease in some families.

Case Presentation: We here describe a novel heterozygous p.

Effects of local administration of growth hormone in peri-implant bone: an experimental study with implants in rabbit tibiae.

Purpose: The objective of this study was to evaluate the qualitative and quantitative differences that could appear in newly formed peri-implant bone around Screw-Vent implants placed in rabbit tibiae when treated with local administration of growth hormone (GH).

Materials And Methods: Eight New Zealand rabbits were randomly divided into 2 groups: the experimental group, which received 4 IU of GH in the form of lyophilized powder added to the ostectomy site before implant placement, and the control group, which did not receive GH before implant placement. Animals were sacrificed 2 weeks later, and histologic sections were obtained for histomorphometry and observation under light microscopy.

Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria.

Familial renal glucosuria is an inherited renal tubular disorder. A homozygous nonsense mutation in the SLC5A2 gene, encoding the sodium/glucose co-transporter SGLT2, has recently been identified in an affected child of consanguineous parents. We now report novel compound heterozygous mutations in the son of non-consanguineous parents.

Social adjustment in three cultures: data from families affected by chronic blood disorders. A sibling study.

This study explores the rate of psychosocial dysfunction in affected and unaffected children from families with haemophilia or beta-thalassaemia, as part of a cross-sectional, multicentre study into the resilience of 115 families with blood disorders. Sociodemographic and developmental data were collected from the parents using a standardized and semi-structured interview format, and medical data were obtained from the clinician. The children's social functioning over the year prior to the assessment was assessed with The Social Adjustment Scale adapted for school-aged children.

Local administration of growth hormone enhances periimplant bone reaction in an osteoporotic rabbit model.

Objective: The purpose of this study was to determine whether rhGH administered locally during the surgical placement of an implant, in the tibia of an osteoporotic rabbit model, would induce qualitative and quantitative differences in peri-implant bone reaction.

Materials And Methods: Eight New Zealand rabbits were ovariectomized and fed with a low-calcium diet (with 0.07% of calcium) to induce osteoporosis.

Psychopathology in children from families with blood disorders: a cross-national study.

Background: This study examines the prevalence of psychiatric disorders in affected and in unaffected siblings from families with haemophilia or beta-thalassaemia.

Method: Based on data derived from a cross-sectional and multi-centre study into the resilience of 115 families with blood disorders. Sociodemographic and developmental data were collected from the parent using a standardised and semi-structured interview, and medical data were elicited from the attending clinician.

Reversible vanishing bile duct syndrome induced by carbamazepine.

Carbamazepine, a widely used anticonvulsant, can induce hepatotoxicity, usually evolving with an acute hepatitis that ceases after drug withdrawal. Carbamazepine-induced vanishing bile duct syndrome (VBDS) is a rare complication and has seldom been reported in the medical literature. This report presents a case of a 26-year-old male who had onset of epilepsy at 12 months of age and was initially treated with phenobarbital.

Serum retinol and risk of hepatocellular carcinoma in patients with child-Pugh class A cirrhosis.

Liver cirrhosis is the main risk factor for the development of human hepatocellular carcinoma (HCC). In this condition, the liver and plasma suffer a drastic depletion of retinoids. This study was conducted to investigate whether any relation exists between serum retinol levels and HCC development in cirrhotics.

The structure and function of the helical heart and its buttress wrapping. IV. Concepts of dynamic function from the normal macroscopic helical structure.

Torrent-Guasp's model of the helical heart is presented, which includes the cardiac muscular structures that produce 2 simple loops and that start at the pulmonary artery and end in the aorta. These components include a horizontal basal loop that surrounds the right and left ventricles, changes direction through a spiral fold in the ventricular band to cause a ventricular helix produced by now obliquely oriented fibers, forming a descending and ascending segment of the apical loop with an apical vortex. These anatomic concepts are successively activated to produce a sequence of narrowing by the basal loop, shortening by the descending segment, lengthening by the ascending segment, and widening in the cardiac cycle that causes ventricular ejection to empty and suction to fill.

The structure and function of the helical heart and its buttress wrapping. I. The normal macroscopic structure of the heart.

The Gordian knot of anatomy has been the architectural arrangement of ventricular muscle mass, which may have finally become understood. The description of Francisco Torrent-Guasp's model of the helical heart is presented, which includes the cardiac structures that produce 2 simple loops that start at the pulmonary artery and end in the aorta. An unscrolled ventricular band is shown, achieved by blunt dissection that extends between the points of origin of the right ventricle, at the pulmonary artery root, to termination at the aortic root, in the left ventricle.

Robotic telepathology for intraoperative remote diagnosis using a still-imaging-based system.

The aim of the present study was to assess whether a telemicroscopy system based on static imaging could provide a remote intraoperative frozen section service. Three pathologists evaluated 70 consecutive frozen section cases (for a total of 210 diagnoses) using a static telemicroscopy system (STeMiSy) and light microscopy (LM). STeMiSy uses a robotic microscope, enabling full remote control by consultant pathologists in a near real-time manner.

Do patients with tumor-positive sentinel nodes constitute a homogeneous group?

From January 1993 to May 2000, 1062 patients with primary cutaneous melanoma and no evidence of clinically detectable regional node metastases underwent sentinel node (SN) dissection to microscopically define the tumor status of the regional lymph nodes. A total of 1165 biopsies were performed. The SN identification rate was 89.

Gastric emptying and orocecal transit time in pregnancy.

Purpose: To evaluate the effects of pregnancy on gastrointestinal function, we determined gastric emptying time, orocecal transit time, and fasting gastrointestinal hormone levels (cholecystokinin, gastrin, pancreatic polypeptide, neurotensin) in 11 women with mild dyspeptic symptoms during the first and third trimesters of their pregnancies, and again 4-6 months after delivery.

Methods: After the women ingested a disaccharide solution, orocecal transit time was determined by monitoring breath hydrogen concentrations at 10-min intervals, and values were compared with the postpartum value. Ultrasound examinations of gastric emptying were performed during the same intervals.

Circulating cytokines and gastrin levels in asymptomatic subjects infected by Helicobacter pylori (H. pylori).

The pathophysiology of hypergastrinemia in H. pylori infection has been largely investigated and different reports clearly show that the infected antrum has a marked inflammatory response with a suggestive local production of cytokines. Notwithstanding, a few data are available on the circulating levels of cytokines and gastrin in the asymptomatic people carrying H.

Effect of Helicobacter pylori infection on gastric emptying and gastrointestinal hormones in dyspeptic and healthy subjects.

There is no general agreement as regards the effect of Helicobacter pylori infection on gastric emptying in patients with functional dyspepsia. Food releases several gastrointestinal hormones, and some of these are known to contribute to the regulation of gastric emptying. The aim of this study was to investigate the influence of H.

Gastric cryptosporidiosis as a clue for the diagnosis of the acquired immunodeficiency syndrome.

Cryptosporidium parvum has been detected with increasing frequency in the gastrointestinal tract, but involvement of the stomach is rarely reported. Whenever found in the histologic examination of the gastrointestinal mucosa, it should raise the suspicion of an immunocompromised host. We report a case of Cryptosporidium-associated erosive gastritis in a 64-year-old woman, who was found later to have the acquired immunodeficiency syndrome.

Gastric electrical activity and gastrointestinal hormones in dyspeptic patients.

Aims: To explore the patterns of gastric electrical activity, gastric emptying and gastrointestinal hormones in dyspeptic patients and relate them to Helicobacter pylori status.

Methods: Twenty-two patients with functional dyspepsia and 29 healthy volunteers underwent cutaneous electrogastrography and dynamic ultrasound before and after a test meal. All dyspeptic patients underwent endoscopy and biopsy; all subjects were examined for the presence of antibodies to H.

[Multifactorial analysis of therapeutic outcome of pseudophakic retinal detachment surgery].

Background: Pseudophakic retinal detachment is one of the most severe complications after cataract surgery and is a common cause of permanently reduced visual acuity. We evaluated parameters predicting reduced functional outcome by a model of stepwise regression analysis.

Patients And Methods: A series of 102 consecutive patients with pseudophakic retinal detachment were analyzed for various parameters regarding cataract surgery, retinal surgery, and retinal detachment features.

Are infant behavioural feeding difficulties associated with congenital heart disease?

Aim: To compare the feeding patterns and difficulties of infants with congenital heart disease (CHD) and healthy controls. Information was gathered via parental questionnaires.

Methods: A matched case controlled study of 64 infants with CHD compared with 64 healthy controls.