Although catastrophic vascular complications in vascular Ehlers-Danlos Syndrome (EDS) are well recognized, other complications such as flexion contractures and tendon nodules are rarely reported and poorly characterized. We report a young man with vascular EDS, who developed flexion contractures and tendon nodules, causing considerable disability. Limited management strategies are available ...

INTRODUCTION: Although the new classification of premature ejaculation (PE) has been proposed by Waldinger et al., there have been few studies investigating the four PE syndromes in China. AIMS: We investigated the prevalence and factors associated with the complaint of PE and the four PE syndromes in Anhui province, China. METHODS: ...

Arterial complications are common in vascular type Ehlers-Danlos syndrome (EDS), accounting for 66% of first complications. Several cases in the literature have documented acute compartment syndrome (ACS) following vascular rupture in vascular type EDS. Other disorders of connective tissue have also demonstrated vascular fragility, leading to arterial aneurysm and rupture, ...

Liver dysfunction is commonly seen in women with Turner syndrome and can manifest in a variety of pathologies. In this review, we discuss the spectrum of liver anomalies associated with this syndrome, and discuss some possible aetiological factors and relationships with exogenous oestrogen.

The vascular type of the Ehlers-Danlos syndrome (Ehlers-Danlos syndrome type IV, EDS IV; OMIM #130050) is a rare connective tissue disorder with autosomal dominant transmission caused by mutations in the COL3A1 gene resulting in increased fragility of connective tissue with arterial, intestinal, and uterine ruptures and premature death. We present ...

Cockayne syndrome is a rare inherited disorder characterized by accelerated aging, cachectic dwarfism and many other features. Recent work has implicated mitochondrial dysfunction in the pathogenesis of this disease. This is particularly interesting since mitochondrial deficiencies are believed to be important in the aging process. In this review, we will ...

The seriousness of metabolic syndrome is not due to the disease itself but its promotion of other diseases, such as erectile dysfunction and cardiovascular and cerebrovascular diseases. We investigated the effects of Korean red ginseng (KRG, Panax ginseng) extract on erectile function in a rat model of metabolic syndrome. We ...

Joint hypermobility syndrome, alternatively termed Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), is likely the most common, though the least recognized heritable connective tissue disorder. While its leading clinical features typically affect joints, recent evidence indicates a wider spectrum of satellite symptoms/dysfunctions, involving practically all major systems and organs. Accordingly, clinical research ...

This article examines an age-old problem-sexual assault-through the lens of its occurrence within the military culture. Specific cases as well as U.S. Department of Defense responses to better handle these issues are offered to educate psychiatric-mental health nurses of the potential differences in symptomatology and presentation of military sexual trauma ...

Proteus syndrome is an extremely rare genetic disorder characterized by an asymmetrical overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels. We present a case of a six-year-old boy with proteus syndrome who underwent bone scintigraphy for suspected osteomyelitis. Bone scintigraphy ruled out osteomyelitis and suggested cellulitis. ...

A patient in his late 30s presented with symptoms consistent with a nephrotic syndrome. Renal biopsy revealed membranous nephropathy. He also mentioned a spontaneous resolving 'rash' at his glans penis after unprotected intercourse. Therefore, he was tested for sexually transmitted diseases as a possible underlying cause of his nephrotic syndrome. ...

Abnormalities of secondary sexual differentiation manifest in varying degrees depending upon the severity of the underlying cause. Primary amenorrhea in phenotypic females is caused by several different factors, including hormonal imbalance, nutritional deficiency and sex differentiation abnormalities. Androgen insensitivity syndrome (AIS) accounts for a large proportion of such cases in ...

We report a case of erectile dysfunction caused by external iliac artery occlusion, associated with pelvic steal syndrome; bilateral internal iliac arteries were patent. The patient stated that he had experienced erectile dysfunction at similar times along with claudication, but he did not mention it before angiography. He expressed that ...

Zinc is essential but potentially toxic, so intracellular zinc levels are tightly controlled. A key strategy used by many organisms to buffer cytosolic zinc is to store it within vesicles and organelles.It is yet unknown whether vesicular or organellar sites perform this function in mammals. Human ZIP13, a member of ...

ABSTRACT: Ehlers Danlos syndrome (EDS) athrocalasia type (type VII), is characterized by joint hypermobility, skin hyperextensibility and tissue fragility. No heart involvement has been reported. Two forms have been described: type VII A and VII B. The abnormally processed collagen alpha2(I) and the skipping of the exon 6 in COL1A2 ...

Introduction: Ehlers-Danlos syndrome (EDS) is a rare inherited group of connective tissue diseases characterized by joint hypermobility, skin hyperextensibility and bruising tendency. Common features of patients with EDS include vascular and gastrointestinal perforations. The purpose of this systematic review is to address gastrointestinal diseases and the complications associated with surgical ...

We report on a 16-year-old female originally diagnosed with Marden-Walker syndrome due to features such as facial dysmorphism, several musculoskeletal anomalies, and atrial septal defect in addition to hypoplasia of the inferior vermis with normal-sized cerebellum and absence of the septum pellucidum. However, an SNP array performed at age 15 ...

We describe a case of Ehlers-Danlos syndrome (EDS) type IV in a male in early half in his twenties, who experienced recurrent and eventually fatal pulmonary hemorrhage. EDS type IV is a rare disorder of type III collagen synthesis that is characterized by unusual facies, thin translucent skin with a ...

Stevens-Johnson syndrome frequently affects the genitalia. Vaginal problems have been recognized in female patients; however, reports about the problem and its treatment are rare. Labial sinechiae have not yet been reported as sequelae of Stevens-Johnson syndrome. Amenorrhea, cyclical abdominal pain, and a hypogastric mass in girls affected by Stevens-Johnson syndrome ...

Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations. The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1. Wolframin has an important function in maintaining the ...

Urethral discharge (UD) in men is one of the most identifiable sexually transmitted infections (STI)-associated syndromes. UD performs very well, giving the possibility of an accurate diagnosis, a treatment at first encounter, a rapid cure with effective drugs, a modification of the risk behavior. Furthermore the patient is informed about ...

We present a female neonate with arthrogryposis, renal tubular abnormalities and cholestasis syndrome and complex renal structural and functional abnormalities that include medul-lary nephrocalcinosis, hydronephrosis, nephrogenic diabetes insipidus, Fanconi syndrome, proximal and distal hyperkalemic renal tubular acidosis, near-nephrotic range proteinuria, hypercalciuria and severe hypovitaminosis D.

A 49-year-old female was admitted to our hospital for acute pancreatitis. The abdomen CT scan incidentally showed midline liver with hepatomegaly, centrally located gallbladder, pancreas truncation, right sided small bowel, left sided large bowel, interruption of the inferior vena cava with azygos continuation, preduodenal portal vein, and multiple spleens in ...

We studied the gestures used by children with classic Rett syndrome (RTT) to provide evidence as to how this essential aspect of communicative functions develops. Seven participants with RTT were longitudinally observed between 9 and 18 months of life. The gestures used by these participants were transcribed and coded from ...

Hunan hand syndrome, a form of painful contact dermatitis, is a rare case finding. It is usually seen in people with continuous and prolonged exposure to chili peppers. The main ingredient in chili peppers is capsaicin that leads to the clinical condition, Hunan hand syndrome. This is paradoxical to the ...

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes, spondyloepiphyseal dysplasia, tendency to skeletal fractures secondary to osteopenia, and growth retardation. Mutations in the eukaryotic translation initiation factor 2α kinase (EIF2AK3) gene are responsible for this disorder. Here, we describe a boy with neonatal diabetes, diagnosed ...

AIMS: To observe the natural history of hand function during a two-year period in participants with hand syndromes associated with diabetes and to determine factors related to changing function. METHODS: Hand function was measured over three annual visits using Disability of the Arm, Shoulder and Hand (DASH) and SF-36v2 questionnaires, ...

Several genetic syndromes are associated with diabetes mellitus (DM). This study aimed to analyse data from the DPV database with regard to frequency, treatment strategies and long-term complications in paediatric DM patients with genetic syndromes, including Turner syndrome (TS), Prader-Willi syndrome (PWS), Friedreich ataxia (FA), Alström syndrome (AS), Klinefelter syndrome ...

The incidence of acute pancreatitis per 100 000 of population ranges from 5 to 80. Patients suffering from hemorrhagic-necrotizing pancreatitis die in 10-24% of cases. 80% of all cases of acute pancreatitis are etiologically linked to gallstone disease immoderate alcohol consumption. As of today no specific causal treatment for acute pancreatitis ...

The Caudal dysplasia syndrome (CDS) and the femoral hypoplasia-unusual facies syndrome (FHUFS) have been reported to be more frequent among infants of diabetic mothers (IDMs). Infact, uncontrolled maternal diabetes is the most common cause of both the syndromes. Till now, there is no case report to suggest absent radius as ...

We report a rare case of Budd-Chiari syndrome developing in a patient undergoing treatment for diabetic ketoacidosis. A 27-year-old female presented with newly detected Type 1 diabetes with sepsis in ketoacidosis. During the process of treatment, she developed pain abdomen, ascites, and pedal edema. Investigations revealed an alteration of liver ...

An international working group has modified the Atlanta classification for acute pancreatitis to update the terminology and provide simple functional clinical and morphologic classifications. The modifications (a) address the clinical course and severity of disease, (b) divide acute pancreatitis into interstitial edematous pancreatitis and necrotizing pancreatitis, (c) distinguish an early ...

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders. The clinical manifestations are heterogeneous and usually generalised. We present a case of mosaic EDS, an extremely rare variant. Our patient presented with a single localised patch of EDS affecting her upper left thigh.

Pancreatic trauma and rupture are rare after feline high-rise syndrome; however, should it happen, pancreatic enzymes will leak into the abdominal cavity and may cause pancreatic autodigestion and fatty tissue saponification. If not diagnosed and treated, it can ultimately lead to multiorgan failure and death. In this case series, 700 ...

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder typically presenting in infants with an impaired automatic control of breathing, particularly during sleep, and often associated with variable patterns of autonomic nervous system dysregulations. We studied three children who had CCHS associated with episodes of severe hypoglycaemia and hyperinsulinaemia; ...

To determine whether metabolic syndrome is associated with accelerated cognitive decline in community-dwelling older adults. A longitudinal study of 993 adults (mean 66.8 ± 8.7 years) from the Rancho Bernardo Study. Metabolic syndrome components, defined by 2001 NCEP-ATP III criteria, were measured in 1984-1987. Cognitive function was first assessed in ...

In November 2010, the Ministry of Health of the proposed nation of South Sudan requested CDC assistance in investigating a recent increase and geographic clustering of an illness resulting in head nodding and seizures. The outbreak was suspected to be nodding syndrome, an unexplained neurologic condition characterized by episodes of ...

Aims: To review the evidence on interventions for reversing metabolic syndrome or preventing development of type 2 diabetes and cardiovascular disease in people with metabolic syndrome. Methods: A systematic review and Bayesian mixed treatment comparison meta-analysis was conducted. Relevant electronic bibliographic databases were searched up to January 2010. Included studies ...

Congenital anal web is a rare form of anorectal malformation. In cases of delayed diagnosis, patients can present with signs ranging from mild constipation to complete bowel obstruction. The diagnosis is made by thorough anorectal inspection and a digital rectal exam. We present the case of a 9-month-old boy with ...

Rett syndrome (RS) is a neurodevelopmental disorder mainly affecting girls. It is characterized by a normal prenatal and perinatal period, apparently normal development for the first 6 months of life, and then a decelaration in head growth, loss of hand and communication skills, psychomotor retardation, as well as the development ...

To use laboratory data to assess the specificity of syndromes used by the New York City emergency department (ED) syndromic surveillance system to monitor influenza activity. For the period from October 1, 2009 through March 31, 2010, we examined the correlation between citywide ED syndrome assignment and laboratory-confirmed influenza and ...

Abstract The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder characterized by aplasia of the uterus and the upper part of the vagina in an XX individual with normal development of secondary sexual characteristics. Individuals with this syndrome may also present with renal and skeletal abnormalities. We report a case of ...

Ehlers-Danlos syndrome, hypermobility type, constituting a phenotypic continuum with or, perhaps, corresponding to the joint hypermobility syndrome (JHS/EDS-HT), is likely the most common, though the least recognized, heritable connective tissue disorder. Known for decades as a hereditary condition with predominant rheumatologic manifestations, it is now emerging as a multisystemic disorder ...

Angelman syndrome (AS) is a neurogenetic syndrome, has a prevalence of 1:10,000 to 1:40,000. Patients with AS have genetic alterations in maternal imprinting gene UB3A (15q11-q13) and molecular evaluations confirm the diagnosis. Our aim is to report a new case with AS and subclinical hypothyroidism (SCH) without goiter. Thyroid dysfunction ...

Preduodenal portal vein (PDPV) is a rare congenital anomaly. In most patients, it is associated with other congenital defects including situs inversus, malrotation, and biliary atresia or occurs as part of the heterotaxia syndrome or polysplenia syndrome. We describe a newborn affected by high jejunal atresia, malrotation, and a complex ...

To evaluate the prevalence of the metabolic syndrome in a sample population from northwest China, and to determine the optimal cut-off point for waist circumference for diagnosing the metabolic syndrome in this population. A total of 1290 residents of the Yan-an region of China completed a cross-sectional survey, physical examination ...

Fanconi's syndrome is a serious condition characterized by type II proximal renal tubular dysfunction, with urinary loss of glucose, amino acids, phosphate, bicarbonate, and potassium. Ifosfamide-induced Fanconi's syndrome is reported in about 1.4-5% of children being treated for solid tumors, yet only a few cases have been reported in adults. ...

When immune dysfunction affects two or more endocrine glands and other non-endocrine immune disorders are present, the polyglandular autoimmune (PGA) syndromes should be considered. The PGA syndromes are classified as two main types: PGA type I and PGA type II. We are reporting this case in which a patient had ...

Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disease characterized by disproportionate short stature, narrow thorax, postaxial polydactyly, nail and tooth abnormalities and congenital heart disease. The patient was a 22-year-old Caucasian man, the third child of consanguineous parents. He received the diagnosis of insulin-dependent diabetes mellitus (DM) at ...

We have generated a new mouse model for congenital myasthenic syndromes by inserting the missense mutation L221F into the ε subunit of the acetylcholine receptor by homologous recombination. This mutation has been identified in man to cause a mild form of slow-channel congenital myasthenic syndrome with variable penetrance. In our ...