Abstract Objective: Traditional Chinese Medicine (TCM) has many postulates that explain the occurrence and co-occurrence of symptoms using syndrome factors such as yang deficiency and yin deficiency. A fundamental question is whether the syndrome factors have verifiable scientific content or are purely subjective notions. This analysis investigated the issue in ...

Vesicle biogenesis machinery components such as coat proteins can interact with the actin cytoskeleton for cargo sorting into multiple pathways. However, whether or not these interactions are a general requirement for the diverse endosome traffic routes is unknown. In this study, we identify actin cytoskeleton regulators as previously unrecognized interactors ...

Exome analysis has had a dramatic impact on genetic research. We present the application of such newly generated information to patient care. The patient was a female, born with normal growth parameters to nonconsanguineous parents after an uneventful pregnancy. She had bilateral cleft lip/palate and ankyloblepharon. Sparse hair, dysplastic nails ...

BACKGROUND: The slaughterhouse is a central processing point for food animals and thus a source of both demographic data (age, breed, sex) and health-related data (reason for condemnation and condemned portions) that are not available through other sources. Using these data for syndromic surveillance is therefore tempting. However many possible ...

SUMMARY:Neurofibromatosis types 1 and 2 are a group of neurocutaneous syndromes resulting from disorders in cell regulation. Despite sharing a common name, neurofibromatosis types 1 and 2 are quite distinct phakomatoses, both clinically and genetically.

OPINION STATEMENT: Acute Inflammatory polyneuropathies are an important group of neuromuscular disorders and are referred to collectively as Guillain-Barré syndrome (GBS). Our knowledge regarding pathogenesis, diagnosis and management continues to expand, resulting in improved opportunities for identification and treatment. These autoimmune processes cause neuropathy by affecting various structures (myelin or ...

BACKGROUND: Abiraterone strongly inhibits androgen synthesis but may lead to an increase in mineralocorticoid hormones that may impair its long term tolerability in patients with prostate cancer. How to implement available therapies in the management and prevention of these potential side effects is a matter of current clinical research. METHODS: ...

PURPOSE OF REVIEW: Biomarkers of prepubertal testicular function have become widely available only in recent years. The aim of this review is to update the knowledge on key biomarkers used to assess hypogonadism in boys. RECENT FINDINGS: Sertoli cells are the most representative cells of the prepubertal testis. Anti-Müllerian hormone ...

Exome analysis has had a dramatic impact on genetic research. We present the application of such newly generated information to patient care. The patient was a female, born with normal growth parameters to nonconsanguineous parents after an uneventful pregnancy. She had bilateral cleft lip/palate and ankyloblepharon. Sparse hair, dysplastic nails ...

Blessed were the days when it all made sense and the apparent mechanism for edema formation in nephrotic syndrome was straightforward: the kidneys lost protein in the urine, which lowered the plasma oncotic pressure. Thus, fluid leaked into the interstitium, depleting the intravascular volume with subsequent activation of renin/aldosterone and ...

BACKGROUND: The presentation of posterior reversible encephalopathy syndrome (PRES) features neuropsychiatric symptoms in the context of predominantly white matter cerebral edema in the setting of a diverse variety of underlying clinical entities. OBJECTIVE: To illustrate the presentation and diagnostic strategy for this under-recognized condition. METHOD: We present two cases of ...

Reversible cerebral vasoconstriction syndrome (RCVS) is a cerebrovascular disorder with a clinical picture that continues to be refined. It has presented to multiple subspecialties over the past several decades, bringing with it many questions regarding risk factors, diagnosis, and management. Answers have been forthcoming but many questions remain. RCVS presents ...

SIX1 interacts with EYA to form a bipartite transcription factor essential for mammalian development. Loss of function of this complex causes branchio-oto-renal (BOR) syndrome, whereas re-expression of SIX1 or EYA promotes metastasis. Here we describe the 2.0-Å structure of SIX1 bound to EYA2, which suggests a new DNA-binding mechanism for ...

BACKGROUND: Congenital nephrotic syndrome arises from a defect in the glomerular filtration barrier that permits the unrestricted passage of protein across the barrier, resulting in proteinuria, hypoalbuminaemia, and severe oedema. While most cases are due to mutations in one of five genes, in up to 15% of cases, a genetic ...

The Cockayne syndrome complementation group B protein, CSB, plays pivotal roles in transcription regulation and DNA repair. CSB belongs to the SNF2/SWI2 ATP-dependent chromatin remodeling protein family, and studies from many laboratories have revealed that CSB has multiple activities and modes of regulation. To understand the underlying mechanisms of Cockayne ...

PURPOSE: The main aim of this experiment was to investigate the perception of Foreign Accent Syndrome in comparison to speakers with an authentic foreign accent. METHOD: Three groups of listeners attributed accents to conversational speech samples of 5 FAS speakers which were embedded amongst those of 5 speakers with a ...

Overuse syndromes of the upper limb are common in musicians. This reflects the long hours spent playing. Possible pathological causes are discussed as well as the ergonomic patterns of playing required of some instruments and other anatomical factors that predispose.

Hunter syndrome (Mucopolysaccharidosis type II) is an inherited lysosomal storage disorder with potentially severe degenerative consequences. Clinical diagnosis is not easy, although biochemical confirmation is straightforward, and sometimes patients are diagnosed at a late age. It is widely believed, for inborn errors of metabolism in general, that early diagnosis and ...

Myleodysplastic syndromes (MDS) are pre-malignant hematopoietic diseases that can progress to acute myeloid leukemia (AML) progression in conjunction with changes in immune function. In this model of leukemia evolution, the expansion of immunosuppressive regulatory T cells (Tregs) contributes to immune escape. Here, we discuss the importance of Treg-memory phenotype switching ...

As ~75% of the Werner syndrome (WS) patients recognized between 1904 and 2008 all over the world are of Japanese origin, the most case reports and clinical studies on WS has been published in Japanese journals. Thus, the detailed English-written clinical review on the recent WS case reports has been ...

Context.- The advent of molecular tools capable of subclassifying eosinophilia has changed the diagnostic and clinical approach to what was classically called hypereosinophilic syndrome. Objectives.- To review the etiologies of eosinophilia and to describe the current diagnostic approach to this abnormality. Data Sources.- Literature review. Conclusions.- Eosinophilia is a common, ...

The recent implementation of array techniques in research and clinical practice has revealed the existence of recurrent reciprocal deletions and duplications in several genome loci. The most intriguing feature is that some reciprocal genomic events can result in opposite phenotypic outcome. One of such examples is 5q35.2-q35.3. Deletions in this ...

PURPOSE: This review summarizes the experience with the vertical expandable prosthetic titanium rib (VEPTR) device, which enables five new procedures to treat complex spine and chest wall abnormalities in pediatric patients, which cause thoracic insufficiency syndrome, the inability of the thorax to support normal respiration or lung growth. METHODS: The ...

ABSTRACT: BACKGROUND: Nephrotic syndrome is one of the most commonly diagnosed kidney diseases in childhood and its progressive forms can lead to chronic kidney disease (CKD) and/or end-stage renal disease (ESRD). There have been few longitudinal studies among a multi-ethnic cohort to determine potential risk factors influencing disease susceptibility, treatment ...

Introduction: Primary Sjögren syndrome (SS) is a chronic systemic autoimmune disease characterized by sicca features and systemic manifestations, and requires a multidisciplinary therapeutic approach. Areas covered: Treatment of sicca manifestations is symptomatic and is based on the administration of topical therapies (saliva substitutes and preservative-free artificial tears). In severe cases ...

Few prospective, randomized controlled clinical trials address the diagnosis and management of patients with Alport syndrome or thin basement membrane nephropathy. Adult and pediatric nephrologists and geneticists from four continents whose clinical practice focuses on these conditions have developed the following guidelines. The 18 recommendations are based on Level D ...

The X-linked form of Opitz G/BBB syndrome is a congenital midline malformation syndrome caused by MID1 loss-of-function mutations, including point mutations and small-sized duplications, insertions, and deletions. Three patients with an Opitz G/BBB syndrome phenotype and relatively large duplications of part of the MID1 gene have been described up to ...

The Nephrotic Syndrome Study Network (NEPTUNE) is a North American multicenter collaborative consortium established to develop a translational research infrastructure for nephrotic syndrome. This includes a longitudinal observational cohort study, a pilot and ancillary study program, a training program, and a patient contact registry. NEPTUNE will enroll 450 adults and ...

ABSTRACT: BACKGROUND: The traditional knowledge of local communities throughout the world is a valuable source of novel ideas and information to science. In this study, the ethnoveterinary knowledge of Sahrawi pastoralists of Western Sahara has been used in order to put forward a scientific hypothesis regarding the competitive interactions between ...

INTRODUCTION: Medulloblastoma is the most common pediatric central nervous system tumor; however, the causes are not well established. There has been some emphasis on mutations in developmental pathways and their impact on tumor pathology in hereditary diseases, but, in order to better understand the nature of diseases like medulloblastoma, other ...

Lemierre's syndrome is a rare yet potentially fatal cause of sore throat. Recently published literature suggests an increase in the incidence of this 'forgotten disease', highlighting Lemierre's syndrome as a clinically important differential diagnosis of sore throat. We present a case report of an 85-year-old man who developed a sore ...

The RecQ family of DNA helicases is highly conserved throughout -evolution, and is important for the maintenance of genome stability. In humans, five RecQ family members have been identified: BLM, WRN, RECQ4, RECQ1 and RECQ5. Defects in three of these give rise to Bloom's syndrome (BLM), Werner's syndrome (WRN) and ...

The antiphospholipid syndrome (APS) is characterised by thrombotic or obstetric symptoms associated with persistent antiphospholipid antibodies (aPL). Despite an increasing standardisation of aPLs testing, which is prone to strong evolutions due to brilliant progresses in the understanding of APS pathophysiology, the specificity and sensitivity of the epidemiological associations between symptoms ...

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a pathological condition characterized by primary amenorrhea and infertility and by congenital aplasia of the uterus and of the upper vagina. The development of secondary sexual characters is normal as well as that the karyotype (46,XX). Etiologically, this syndrome may be caused by the lack of ...

Objective. To explore the urinary biochemistry features of syndromes of traditional Chinese medicine (TCM) such as syndrome of stagnation of liver Qi, spleen deficiency, liver Qi stagnation, and spleen deficiency (LSSDS) in sub-optimal health status (SHS). Methods. 12 cases for each syndrome group in SHS were selected, 12 subjects were ...

Morquio A syndrome is a lysosomal storage disease associated with mucopolysaccharidosis. It is caused by a deficiency of the lysosomal enzyme, N-acetylgalactosamine-6-sulfate sulfatase, which leads to accumulation of keratan sulfate and condroitin-6 sulfate in multiple organs. Patients present with multisystemic complications involving the musculoskeletal, respiratory, cardiovascular, and digestive systems. Presently, ...

Neural crest progenitor cells are identified at the lateral margins of the neural placode at the time of gastrulation. With folding of the placode, these precursors are brought to the dorsal midline of the neural tube at the site of closure, become committed to neural crest lineage and almost immediately ...

A new approach for the classification of patients with Sjögren's syndrome (SS) has been recently proposed. Although these new criteria substantially differ from the American European Consensus Group criteria, which have represented the gold standard for the last decade, when compared with each other the two sets show a high ...

Long QT syndromes (LQTS) are a family of inherited monogenetic disorders caused by gain or loss-of-function mutations of cardiac ion channels and are characterized by a prolonged QT interval in the ECG. The disease-specific mutations lead to prolonged action potential durations and early after-depolarizations in cardiomyocytes potentially giving rise to ...

BACKGROUND: Chiari I malformations (CM-I) have been associated with a variety of developmental abnormalities in the literature. A few cases of CM-I in patients with Noonan syndrome (NS) have been reported; however, opinion remains divided as to whether the observed association is coincidental. DISCUSSION: Six previous cases of CM-I in ...

Potocki-Shaffer syndrome (PSS) is a rare disorder caused by haploinsufficiency of genes located on the proximal short arm of chromosome 11 (11p11.2p12). Classic features include biparietal foramina, multiple exostoses, profound hypotonia, dysmorphic features, and developmental delay/intellectual disability. Fewer than 40 individuals with PSS have been reported, with variable clinical presentations ...

This paper emphasizes the anatomical substrate of several foot conditions that are seldom discussed in this context. These include the insertional and non-insertional Achilles tendinopathies, plantar fasciopathy, inferior and posterior heel spurs, foot compartment syndromes, intermetatarsal bursitis and Morton's neuroma. It is a rather superficial anatomical review of an organ ...

Cutaneous T-cell lymphomas are rare, distinct forms of non-Hodgkin´s lymphomas. Of which, mycosis fungoides (MF) and Sézary syndrome (SS) are two of the most common forms. Careful, clear classification and staging of these lymphomas allow dermatologists to commence appropriate therapy and allow correct prognostic stratification for those patients affected. Of ...

Paralleling the worldwide epidemic in childhood obesity, in the last decade we have observed a rise in the prevalence of metabolic syndrome (MetS) in pediatrics. The MetS comprises a cluster of cardiovascular risk factors. Multiple definitions have been proposed for the syndrome in the pediatric age group, but they are ...

Guillain-Barré syndrome (GBS) encompasses a spectrum of acquired neuropathic conditions characterized by inflammatory demyelinating or axonal peripheral neuropathy with acute onset. Clinical and experimental studies in the past years have led to substantial progress in epidemiology, pathogenesis of GBS variants, and identification of prognostic factors relevant to treatment. In this ...

To estimate the pretest probability of Cushing's syndrome (CS) diagnosis by a Bayesian approach using intuitive clinical judgment. Physicians were requested, in seven endocrinology meetings, to answer three questions: "Based on your personal expertise, after obtaining clinical history and physical examination, without using laboratorial tests, what is your probability of ...

Antiphospholipid syndrome (APS) is an autoimmune disorder defined by the presence of characteristic clinical features and specified levels of circulating antiphospholipid antibodies (Box 1 and Box 2). Diagnosis requires that at least one clinical and one laboratory criterion are met. Because approximately 70% of individuals with APS are female (1), ...

Folliculotropic Sézary syndrome is a rare and unique variant of cutaneous T-cell lymphoma (CTCL) characterised by both follicular and leukaemic involvement of mycosis fungoides (MF). It is associated with a more aggressive clinical course and fatal outcomes. Large cell transformation (LCT) of mycosis fungoides/Sézary syndrome is also associated with an ...

Considerable progress has been made in recent years in understanding of the genetic basis for congenital neutropenia syndromes. With the advent of high-throughput genomic analyzing technologies, the underlying genetic causes of other congenital neutropenia syndromes are expected to be resolved in the near future. This knowledge will provide the foundation ...

In 1927, Arthur C. Alport first published his description of a triad of symptoms in a family with hereditary congenital haemorrhagic nephritis, deafness and ocular changes. A few years after his death, this group of symptoms was renamed Alport syndrome. To this day, Alport syndrome still inevitably leads to end-stage ...