The efficacy of adalimumab, a fully human anti-tumor necrosis factor-α recombinant antibody, has dramatically improved the quality of life of patients with rheumatoid and psoriatic arthritis and Crohn's disease. Because it is fully human, one should not expect immune reactions to this molecule. Adverse reactions to adalimumab are limited mainly ...

Acute liver failure (ALF) with macrophage activation syndrome (MAS) is well known as a complication of systemic-onset juvenile idiopathic arthritis (S-JIA). However, liver failure without overt MAS is rare in S-JIA. We encountered two Japanese children with S-JIA in whom ALF developed during the remission of clinical manifestations. ALF without ...

: To present a rare ocular manifestation of reactive arthritis (Reiter syndrome) in a child. : A 10-year-old girl who was admitted to our hospital with low-grade fever, arthritis, and aching left eye with blurred vision was diagnosed with Reiter reactive arthritis. At the time of admittance, the ophthalmologic examination ...

ABSTRACT: Systemic juvenile idiopathic arthritis (sJIA) is a systemic inflammatory disease characterized by arthritis, spiking fever and a skin rash that is frequently complicated by macrophage activation syndrome (MAS), a life-threatening disorder. We report a 22-month-old girl with sJIA who developed severe MAS but was successfully treated with corticosteroids, cyclosporinA, ...

Oral Diseases (2011) 17, 538-540 The use of eponyms has long been contentious, but many remain in common use, as discussed elsewhere (Editorial: Oral Diseases. 2009: 15; 185). The use of eponyms in diseases of the head and neck is found mainly in specialties dealing with medically compromised individuals (paediatric ...

Postural deformities are frequent and disabling complications of Parkinson's disease (PD) and atypical parkinsonism. These deformities include camptocormia, antecollis, Pisa syndrome, and scoliosis. Recognition of specific postural syndromes might have differential diagnostic value in patients presenting with parkinsonism. The evidence to date suggests that postural deformities have a multifactorial pathophysiology. ...

Platypnea-orthodeoxia is a rare syndrome characterized by dyspnea and deoxygenation induced by a change to a sitting or standing from a recumbent position. It is the result of posturally accentuated intracardiac or pulmonary right-to-left shunt leading to arterial oxygen desaturation. Only few cases of platypnea-orthodeoxia syndrome are reported in the ...

BACKGROUND: Myoclonus-dystonia (M-D) is genetic and clinically heterogeneous. Identification and description of rare M-D syndromes may contribute to gene identification. RESULTS: Here, we describe a new, autosomal dominant M-D syndrome in a 3-generation pedigree showing anticipation. Patients have progressive action-induced multifocal dystonia and generalized myoclonus. A remarkable feature of the ...

: To draw attention on citalopram as a possible cause of movement disorders. : Case report of a patient with sudden-onset bilateral parkinsonian syndrome after administration of citalopram. : We describe a 67-year-old woman who developed sudden-onset bilateral rigidity, bradykinesia, resting and postural tremor, and typical parkinsonian gait 2 weeks ...

Prader-Willi syndrome (PWS) and Ehlers-Danlos syndrome (EDS) are two different genetical disorders both characterized, among other features, by muscular hypotonia. Postural control seems to be impaired in both conditions. The aim of the present study was to quantitatively compare postural control in adult PWS and EDS using stabilometric platform to ...

To analyse patients presenting with acute inflammatory ankle arthritis from an aetiological standpoint; whether they had Löfgren's syndrome (acute presentation of sarcoidosis), or Poncet's disease (reactive arthritis due to tuberculosis infection). An additional objective was to establish a simple, practical yet optimal algorithm for diagnostic approach and management of such ...

The differential diagnosis of macrophage activation syndrome (MAS) and sepsis must be considered in the clinical course of systemic-onset juvenile idiopathic arthritis (s-JIA) with sudden onset of high-grade fever and abnormal laboratory findings, including leukocytopenia, thrombocytopenia, and coagulopathy. In this report, we describe the case of a 17-month-old girl diagnosed ...

The objectives of the 'Task Force on Catastrophic Antiphospholipid Syndrome (APS) and Non-criteria APS Manifestations' were to assess the clinical utility of the international consensus statement on classification criteria and treatment guidelines for the catastrophic APS, to identify and grade the studies that analyse the relationship between the antiphospholipid antibodies ...

During recent years, a syndrome of hypokinesia, dysarthria, dystonia, and postural impairment, related to intravenous use of a "designer" psychostimulant derived from pseudoephedrine using potassium permanganate as the oxidant, has been observed in drug addicts in several countries in Eastern Europe with some cases also in Western countries. A levodopa ...

The relationship between peripheral trauma and dystonia has been debated for more than a century but the issue still remains controversial. There are passionate supporters and detractors of the association and both the groups have their own arguments. This review aims to critically evaluate those arguments and presents current understanding ...

Sandostatin® LAR® depot is a synthetic analogue of the naturally occurring hormone somatostatin and is indicated for certain patients with acromegaly and severe diarrhea and flushing episodes associated with metastatic carcinoid tumors and for the long-term treatment of the profuse watery diarrhea associated with VIP-secreting tumors in patients in whom ...

Adiposity is a predisposing condition to atherosclerosis, and rheumatoid arthritis (RA) also predisposes to accelerated atherosclerosis. Adiposity is one of the key features of the metabolic syndrome (MetS) and it is well recognised that a metabolic syndrome (and fat tissue) is a major player in this complex network. Endothelial dysfunction ...

Dysfunction of the autonomic nervous system, or dysautonomia, is an uncommon disease. Postural orthostatic tachycardia syndrome is one of the several types of dysautonomia. Postural orthostatic tachycardia syndrome, also known as chronic orthostatic intolerance, is the most common but least severe of the dysautonomic disorders; it will serve as the ...

to explore routinisation and constraints on informed choice in a one-stop clinic offering first trimester antenatal chromosomal screening for Down's syndrome. recordings of booking appointments and pre-screening consultations in both a community and a hospital clinic setting. one antenatal clinic site in the UK offering first trimester nuchal translucency screening ...

paraneoplastic neurological syndromes (PNS) almost invariably predate detection of the malignancy. Screening for tumours is important in PNS as the tumour directly affects prognosis and treatment and should be performed as soon as possible. an overview of the screening of tumours related to classical PNS is given. Small cell lung ...

The objective of this study was to describe and illustrate a method for calculating fetus-specific Down syndrome risk in twins, allowing for between-fetus nuchal translucency (NT) correlation. The between-fetus correlation coefficient of log NT, in multiples of the median, was estimated from a series of 325 unaffected twins after adjustment ...

OBJECTIVE: We sought to evaluate amniotic fluid brain natriuretic peptide (BNP) levels as a biomarker of recipient twin (RT) cardiomyopathy (RTCM) in twin-twin transfusion syndrome. STUDY DESIGN: Amniotic fluid samples were obtained from 157 twin-twin transfusion syndrome RTs and from 6 singletons (controls) from 2007 through 2009. N-terminal prohormone BNP ...

This report presents a case of a surviving monochorionic twin with multiple intestinal atresia and congenital bilateral perisylvian syndrome, which developed after the intrauterine death of the cotwin. The pathology of the placenta demonstrated vein-to-vein communication between the twins and multiple intravascular thrombi in the dead cotwin.

BACKGROUND: Twin-twin transfusion syndrome occurs in 10% of monozygotic monochorionic twin gestations and results from an unbalanced exchange of blood from the donor to the recipient fetus through placental anastomoses. CASE: We present a case of twin-twin transfusion syndrome with differing fetal sex treated with in utero laser surgery. Genetic ...

To determine pregnancy outcomes of patients who present with Stage I twin-to-twin transfusion syndrome (TTTS). This was a retrospective review of all patients with TTTS referred to our institution between January 2005 and December 2006. Quintero criteria were used for staging. Laser ablation was not offered to patients with Stage ...

This review summarizes the development, history and use of second-trimester sonographic markers for the detection of fetal Down syndrome over three decades. Starting with the nuchal fold thickening in 1985 and culminating in the genetic sonogram in the 1990 s. The combination of second-trimester serum screening with the ultrasound markers ...

Prenatal screening for Down syndrome (DS) is performed by risk calculation based on biochemical and biometric parameters. This way, approximately 75-85% of all DS cases can be detected. A way to improve detection rates is to search for new screening markers. Since the majority of biomarkers used in current DS ...

PURPOSE: To compare the number and types of chromosome abnormalities prenatally diagnosed and the number of invasive procedures between current prenatal testing pathways and a pathway where noninvasive prenatal diagnosis for Down syndrome replaces Down syndrome screening tests. METHODS: Numbers and types of chromosome abnormalities for each referral category were ...

The highly variable 22q11 deletion syndrome has been proposed for addition to newborn screening panels. A literature review investigated the incidence and prevalence, clinical features, and prognosis of 22q11 deletion syndrome and other issues related to newborn screening. Severe complications that could potentially be helped by screening include cardiac defects ...

Cytogenetic and molecular genetic analysis in a case of sex-discordant dizygotic twins revealed blood chimerism in the girl (46,XY in blood and 47,XX, + 21 in fibroblasts) caused by feto-fetal transfusion from her healthy brother. The girl presented with Down syndrome, aplasia of the uterus and the Fallopian tubes and ...

We report the case of a patient with heterotaxy syndrome including complex single ventricular morphology and interrupted IVC in association with twin conduction systems and a nodoventricular accessory pathway connection. The presence of 3 distinct QRS morphologies was inadvertently discovered during a hemodynamic catheterization study and prompted formal EP testing ...

Twin-to-twin transfusion syndrome (TTTS) is a multifactorial disorder that develops in 9-15% of diamniotic-monochorionic twin gestations. While the pathogenesis of TTTS remains poorly understood, unbalanced deep artery-to-vein (AV) anastomoses have traditionally been implicated in the gradual shift of blood from donor to recipient. The aim of this study was to ...

Thoracic outlet syndrome has neurologic symptoms caused by compression of brachial plexus, blood vessel symptoms are caused by compression of the artery or vein. The authors report a case of sudden decrease in blood pressure of the left arm after turning the patient from supine position to prone position. They ...

AIM: To report a case of non-syndromic oligodontia involving 26 permanent teeth in monozygotic twin sisters and to discuss the possible genetic etiology, inheritance pattern and associated dental anomalies of this condition. BACKGROUND: Hypodontia constitutes one of the most common developmental anomalies in humans and is defined as developmental absence ...

Beckwith-Wiedemann syndrome (BWS) is a model disorder for the study of imprinting, growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an important embryonic developmental window relevant to the observations of increased monozygotic twinning and an increased rate of epigenetic errors after subfertility/assisted reproduction.

Brown syndrome is a rare ocular movement abnormality. This syndrome is characterized by an inability to elevate the affected eye in adduction. Most cases are sporadic but the occurrence in Monozygotic twins has suggested the possible autosomal dominant inheritance in Brown syndrome. A 4-year-old girl (one pair of dizygotic twins) ...

Caudal regression syndrome is a rare congenital condition characterized by varying degrees of developmental failure ranging from a partial sacral agenesis to the absence of lumbosarcal spine, hypoplasia, or fusion of the lower extremities and visceral anomalies. This is the third case of only one of the twins involved by ...

OBJECTIVE: Discordance in nuchal translucency measurements in monochorionic diamniotic twin pregnancies was assessed as predictor of Twin-to-Twin Transfusion Syndrome. STUDY DESIGN: A total of 61 monochorionic diamniotic twins were enrolled. Nuchal translucency (NT) and crown-rump-length (CRL) discordance was calculated as the percentage of delta NT and CRL (absolute difference NT/CRL ...

We present female twins with reticular erythematous mucinosis (REM syndrome). Remarkably, the lesions developed in both sisters almost at the same time in the same locations after UV exposure. Reports of familial manifestations of REM syndrome are very rare and an association to a distinct HLA constellation has not been ...

A case of identical male twins with Cohen syndrome who present multiple ophthalmic findings is reported. The patients were identical 16 year-old twin boys who showed down slanting eyelids, mild ptosis, high-grade myopia, small cortical lens opacities, posterior subcapsular cataracts, myotic and corectopic pupils with poor dilation due to focal ...

We report a 20-year-old man with Poland syndrome who suffered from weakness, pain, numbness, and discoloration in the left upper extremity. He was eventually diagnosed as also having thoracic outlet syndrome. The concomitance of these two disorders is discussed with a special emphasis on the underlying mechanisms.

To determine the knowledge and attitudes of pregnant Thai women towards Down syndrome screening. A total of 714 pregnant women were recruited attending antenatal clinics in Songklanagarind Hospital from February through June 2007. Their knowledge and attitudes concerning Down syndrome screening were evaluated through self-administered questionnaires. The data were analyzed ...

The diffusion of antenatal screening programmes for Down syndrome has triggered much discussion about their powerful potential to enhance pregnant women's autonomy and reproductive choices. Simultaneously, considerable debate has been engendered by concerns that such programmes may directly contribute to the emergence of new and complex ethical, legal and social ...

This paper suggests that during the time of the "splitting process" that produces monozygotic twins the number of cells may not be evenly distributed to the future twins. The outcome of this 'irregular division' may be the twin-to-twin transfusion syndrome and acardiac twins.

Thoracic outlet syndrome (TOS) is a challenging condition to diagnose correctly and manage appropriately. This is the result of a number of factors including the multifaceted contribution to the syndrome, the limitations of current clinical diagnostic tests, the insufficient recognition of the sub-types of TOS and the dearth of research ...

Down syndrome in monochorionic twins has rarely been reported. We report such a case diagnosed prenatally. Maternal serum screening was performed at 15 weeks for a twin pregnancy which indicated a risk of greater than 1:50 for Down syndrome. The review of early ultrasonography confirmed monochorionic twins. Amniocentesis at 17 ...

OBJECTIVE: To study the localization and size of residual anastomoses in twin-to-twin transfusion syndrome treated with fetoscopic laser surgery and correlate the findings with outcome. STUDY DESIGN: Placental injection in twin-to-twin transfusion syndrome placentas treated with laser was performed by using colored dye. RESULTS: A total of 77 twin-to-twin transfusion ...

This case illustrates the anatomic impact of a large cervical rib as an etiology for thoracic outlet syndrome. Current management remains predicated on astute diagnosis, multidisciplinary therapy including, physical therapy, scalene muscle blockade, and surgical decompression in appropriate cases.

Twin-to-twin transfusion syndrome (TTTS) is a serious complication in about 10% to 20% of monozygous twin gestations with an incidence of 4% to 35% in the United States. Severe TTTS is reported to occur in 5.5% to 17.5% of cases. TTTS is a progressive disease in which sudden deteriorations in ...

OBJECTIVE: The purpose of this study was to determine changes in screening and performance of invasive diagnostic procedures for Down syndrome between 2001 and 2007. STUDY DESIGN: The Society for Maternal-Fetal Medicine members completed a survey in 2007 regarding screening tests and diagnostic procedures for Down syndrome. With the use ...