Background and AimsConvergent floral traits hypothesized as attracting particular pollinators are known as pollination syndromes. Floral diversity suggests that the Australian epacrid flora may be adapted to pollinator type. Currently there are empirical data on the pollination systems for 87 species (approx. 15 % of Australian epacrids). This provides an ...

Abstract Wild-type and mutant transthyretin (TTR) are implicated in systemic amyloidosis (ATTR). Myopathy is a rare complication of ATTR amyloidosis, however no patient with bent spine syndrome secondary to ATTR amyloidosis has been reported so far. We present the first case of bent spine syndrome in a patient with wild-type ...

INTRODUCTION: The aim of the present study was to determine whether individuals with Prader-Willi syndrome (PWS) have impaired global executive functioning and whether this deficit is linked with intellectual disability. Another objective focussed on the variability in performance of intellectual quotient (IQ) and executive functions (EF) depending on the genotypic ...

Myelodysplastic syndromes (MDS) are myeloid disorders with various clinical and biological presentations. The French-American-British (FAB-1982) classification included five categories basing on morphology and bone marrow blast count. Three criteria are taken into account: 1) the percentage of blasts in peripheral blood and bone marrow, 2) the percentage of ringed sideroblasts, ...

Systemic and immune manifestations have been reported in patients with MDS. The correlation between immunological abnormalities and prognosis in myelodysplastic syndrome patients remains controversial. Most of the authors agree that the median survival in myelodysplastic syndrome is not related to the presence of systemic and immune manifestations, but only with ...

Key points BMI1 overexpression is one of the second hit partner genes of RUNX1 mutations that contribute to the development of MDS.

Common cold is the most common infectious disease of mankind and the term is widely used in the clinical literature as though it were a defined clinical syndrome. Clinical studies on this syndrome often use elaborate symptom scoring systems to diagnose a common cold. The symptom scores are based on ...

OBJECTIVES:: The purpose of this paper was to evaluate the relationship of radiographic features of tibial plateau fractures to the development of compartment syndrome. We hypothesized that the direction and degree of initial displacement of the femur on the tibia, as well as the amount of tibial widening, were correlated ...

Following the terrorist attacks of September 11 and the anthrax attacks in 2001, public health entities implemented automated surveillance systems based on disease syndromes for early detection of bioterror events and to increase timeliness of responses. Despite widespread adoption, syndromic surveillance systems' ability to provide early notification of outbreaks is ...

Carpal tunnel syndrome (CTS) is not difficult to confirm by electrodiagnosis (EDX), but the challenge lies in whether to grade the severity and the method for doing so. The arguments about grading are discussed, with an emphasis in favor, using a method that relies on the EDX data, but qualifies ...

One month previously, a 28-year old male underwent an emergency modified Bentall procedure because of Marfan syndrome with acute aortic dissection Stanford Class A. Computed tomography of the chest did not reveal severe graft stenosis of the anastomosis. To explore the cause of anaemia, renal dysfunction and macroscopic haematuria, the ...

OBJECTIVE: This study evaluated the prognostic factors of synkinesis following Bell's palsy and Ramsay Hunt syndrome. METHODS: A total of 345 patients consisting of 309 cases of Bell's palsy and 36 cases of Ramsay Hunt syndrome were enrolled in our study. The following 13 factors were considered as candidate prognostic ...

BACKGROUND:: Although splenic abnormalities are common in patients with lupus, spontaneous rupture of spleen is extremely rare. OBSERVATIONS:: A 15-year-old boy with new-onset Evans syndrome subsequently diagnosed as systemic lupus erythematosus developed spontaneous rupture of spleen during the course of his illness. Despite the severe thrombocytopenia, he was managed conservatively ...

Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED). We analyzed 168 cytogenetic ...

Aim. To evaluate and predict the therapeutic efficacy of Fuzheng-Huayu tablet (FZHY) based traditional Chinese Medicine (TCM) syndrome differentiation or TCM symptoms on chronic hepatitis B caused cirrhosis (HBC). Methods. The trial was designed according to CONSORT statement. It was a multi-center, double-blind, randomized, placebo-controlled trail. Several clinical parameters, Child-Pugh ...

Although Chinese medicine treatments have become popular recently, the complicated Chinese medical knowledge has made it difficult to be applied in computer-aided diagnostics. The ability to model and use the knowledge becomes an important issue. In this paper, we define the diagnosis in Traditional Chinese Medicine (TCM) as discovering the ...

syndromic surveillance system has great advantages in promoting the early detection of epidemics and reducing the necessities of disease confirmation, and it is especially effective for surveillance in resource poor settings. However, most current syndromic surveillance systems are established in developed countries, and there are very few reports on the ...

Near-infrared spectroscopy (NIRS) has shown promise in detecting ischemic changes in acute compartment syndrome. The objectives of this study were to 1) assess the correlation in NIRS values between upper and lower extremity control sites for bilateral lower extremity trauma and 2) investigate the effect of skin pigmentation on NIRS ...

Acute radiation syndrome is a life-threatening condition that has the potential to affect large populations of humans. Although several animal models of this syndrome are available, the total-body-irradiated mouse has emerged as an important tool to evaluate the efficacy of prospective prophylaxis, mitigation, and treatment compounds. Despite the widespread use ...

A middle aged female patient presented with generalised palpable purpura associated with intense pruritus along with subconjunctival haemorrhage and orbital inflammation. There was extensive dermographism. Other systemic examinations were within normal limits. Haematological profile was normal except raised D-dimer. Skin biopsy revealed the presence of leucocytoclastic vasculitis. Antinuclear antibody was ...

Erythema multiforme (EM) and systemic lupus erythematosus (SLE) are common diseases. Their coexistence is known as Rowell syndrome (RS), first described in 1963. Only few cases of RS have been described and some of them questioned its existence. We present two cases of SLE in the setting of a newly ...

OBJECTIVE: To investigate the potential of renal pathological index as a differential diagnosis factor for Chinese medicine (CM) syndromes typing in IgA nephropathy (IgAN). METHODS: A total of 1,016 patients with IgAN was recruited from November 2001 to November 2004. All the signs and symptoms including picture of the tongue ...

Sjögren's syndrome (SS) is a chronic inflammatory systemic autoimmune disease. The disease spectrum extends from sicca syndrome to systemic involvement and extraglandular manifestations, and SS may be associated with malignancies, especially non-Hodgkin's lymphoma. Patients with SS present a broad spectrum of serologic features. Certain serological findings are highly correlated with ...

Pectus carinatum or protrusion deformity of chest wall is less frequently occurring anterior chest wall deformity when compared to pectus excavatum. It may be classified as type 1 or chondro-gladiolar and type 2 or chondro-manubrial deformity. Other variations seen are symmetrical and asymmetrical pectus carinatum. Here we present two unique ...

OBJECTIVE: To assess each of the scoring systems used to diagnose and classify post-thrombotic syndrome, a common chronic complication of deep vein thrombosis. The design of the study was a systematic review of the literature pertaining to post-thrombotic syndrome. METHODS: A systematic review was conducted according to the Preferred Reporting ...

Purpose. This study aims to quantify the value of digital rectal examination (DRE) in the clinical diagnosis of cauda equina syndrome. Methods. A retrospective case note review was performed on all patients referred to a University Teaching Hospital over a one-year period with documented suspicion of cauda equina syndrome. All ...

The most widely used prognostic classification system used for myelodysplastic syndromes (MDS) is the International Prognostic Scoring System (IPSS) (1). Greenberg et al recently proposed a Revised IPSS (IPSS-R) (2). Bone marrow (BM) cytogenetics, BM blast percentages, and cytopenias remained the basis of this new system. A low marrow blast ...

The macrophagic syndrome or reactive haemophagocytic syndrome (RHS) is a complication resulting from systemic inflammatory diseases and may also be related to malign neoplasias, immunodeficiencies and to a variety of infections caused by virus, bacteria, and fungus. It is characterized by an excessive activation of macrophages and histiocytes along with ...

Purpose: To evaluate the prevalence of neurological involvement and malformative/systemic syndromes in A- and V-patterns with respect to other kinds of infantile concomitant strabismus. Methods: A retrospective comparative study of 14,006 consecutive patients examined in the Pediatric Ophthalmology and Strabismus Unit at the Catholic University of Rome between January 2002 ...

The current World Health Organization classification considers myelodysplastic syndrome with isolated del(5q) a distinct entity owing to its characteristic clinical and pathologic features. Recently, several studies have examined survival, leukemic transformation, and various prognostic factors in these patients. However, there is a lack of detailed comparative pathologic analysis of myelodysplastic ...

Pseudo-pseudo Meigs' syndrome (PPMS) is a rare manifestation of patients with systemic lupus erythematosus (SLE), defined by the presence of ascites, pleural effusions and an elevated CA-125 level. We describe a patient with longstanding lupus who presented with localized lymphadenopathy and subsequently developed massive chylous ascites with marked hypoalbuminemia. A ...

To evaluate the common Traditional Chinese Medicine (TCM) syndromes and analyze their relationship to clinical and pathological manifestations in children with IgA nephropathy. Forty five children diagnosed as having primary IgA nephropathy by renal biopsy for the first time were enrolled in this trial, and their TCM syndromes were evaluated ...

The combination of holoprosencephaly and ectrodactyly, also known as Hartsfield syndrome, represents a unique genetic entity. An X-linked recessive mode of transmission has been suggested for this condition based on the observation that male patients have preferentially been affected. Thus far, no candidate genes have been suggested on the X ...

Branchiootoic syndrome is part of the spectrum of brachiootorenal disorders. Brachiootorenal disorder is a rare autosomal dominant condition, characterized by malformations of the outer, middle, and inner ear, which are associated with branchial and renal anomalies. We describe a case of bilateral branchiootoic syndrome and discuss the anatomy of second ...

Oro-palatal dysplasia Bettex-Graf is an extremely rare syndrome consisting of microstomia, U-shaped cleft palate and micrognathia. Only two affected families have been reported before. We present the clinical findings, treatment and 13 year follow-up in a patient with this rare syndrome. The possible linkage to the fragile site 16q22 has ...

This study aimed to investigate the mutation of T-box transcription factor TBX22 exon 5 in children with non-syndromic cleft palate. Four mutations in TBX22 exon 5 in X-linked cleft palate with ankyloglossia (CPX) patients had been identified in the previous studies. The study used the syndromic cleft palate susceptibility gene ...

The objective of this study was to investigate the prevalence of dental anomalies in individuals with Richieri-Costa-Pereira syndrome. A total of 13 individuals with Richieri-Costa-Pereira syndrome who were older than 8 years with at least 1 available panoramic radiograph were assessed. Dental anomalies were evaluated clinically and radiographically and classified ...

Noonan syndrome is a genetic disorder with involvement of many organ systems; facial dysmorphism and cardiovascular defects being the common abnormalities. Renal involvement is uncommon and abnormalities of the genitourinary system are usually limited to structural anomalies and cryptorchidism. We report a case of Noonan syndrome with chronic tubulointerstitial nephritis ...

Prenatal exposure of mother to valproic acid causes teratogenic effects on fetus. The authors report an 18 h-old girl with typical facial and limbs features of fetal valproate syndrome (FVS) along with abnormal draining of left superior vena cava into left atrium.

With the advent of prenatal sonography, fetal overgrowth can be easily detected. Prenatal-onset overgrowth can be secondary to normal variants of familial tall stature, familial rapid maturation, diabetic macrosomia, and congenital nesidioblastosis, or prenatal-onset overgrowth can be primary due to pathological overgrowth disorders. This article provides a comprehensive review of ...

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare, autosomal dominant form of ectodermal dysplasia due to TP63 mutations. ADULT syndrome is much less common than the more classical forms of TP63-associated ectodermal dysplasias, such as ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome. ADULT syndrome is characterized by ectrodactyly, syndactyly, ...

Abstract no abstract. Beare Stevenson syndrome; FGFR.

Although Muenke syndrome is the most common syndromic form of craniosynostosis, the frequency of oral and palatal anomalies including high-arched palate, cleft lip with or without cleft palate has not been documented in a patient series of Muenke syndrome to date. Further, to our knowledge, cleft lip and palate has ...

Ultrasound (USG) is a useful investigation in obstetrics. Its mean indications include screening for fetal anomaly, especially for Down's syndrome and other genetic trisomy. Here, the author tries to access the compatibility between classical USG scoring index and the new likelihood ratio-based system. New recommendation on severity of studied markers ...

Oral-facial-digital syndrome is characterized by heterogeneous clinical features involving malformations of the face, oral cavity, and digits. The syndrome has been reported only in women, suggesting that it is lethal in males. Affected females have malformations of the oral cavity (cleft palate, lip and tongue, abnormal dentition, and hamartomas), face ...

Oculo-facio-cardio-dental (OFCD) syndrome is a rare syndrome characterized by ocular, facial, cardiac, and dental disorders. Only about 20 cases have been reported to date. The most prominent of the various features of this syndrome is canine radiculomegaly. Other features include a long and narrow face, a high nasal bridge, a ...

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal ...

Abstract We report on a 3 1/2 year-old African American female with a 1.63 Mb microdeletion in 5q35.2-q35.3. This deletion includes NSD1, the gene that causes Sotos syndrome. The patient has unilateral cleft lip and palate (CLP) status post-repair, an unrepaired alveolar cleft, speech delay, global developmental delay, macrocephaly, mild ...

PURPOSE: Emanuel syndrome is a rare chromosomal disorder characterized by severe mental retardation and multiple anomalies. The syndrome is caused by chromosomal imbalance due to a supernumerary derivative chromosome 22. Little is known regarding the characteristics of prenatal biochemical screening, or ultrasonographic markers in this syndrome. We aimed to identify ...

Amniotic band syndrome (ABS) is a group of fetal malformations caused by fibrous adherences. Species such as sheep, rats, and mice have been used to study this syndrome. We developed a fetal rabbit model using 24 fetuses from punctured uteri. We found one case of syndactyly, one case of amniotic ...