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Lopalco Giuseppe G Interdisciplinary Department of Medicine, Rheumatology Unit, Policlinico of Bari, Bari, - - 2014
Management of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is puzzling, and therapeutic choices can be complicated, due to both wide genetic heterogeneity and protean clinical phenotype. We report on a 35-year-old female who was diagnosed with TRAPS, after finding the V95M mutation on the TNFRSF1A gene; who was treated ...
Wallman Daniel D Boston University School of Medicine, 72 East Concord St, A-302, Boston, MA 02118, USA. Electronic address: - - 2014
This study examines a possible relationship between Ehlers-Danlos Syndrome (EDS) and Postural Tachycardia Syndrome (POTS). We retrospectively reviewed 109 medical records of patients suffering from autonomic dysfunction exhibiting at least one POTS symptom from one urban clinic for EDS and POTS diagnoses between 2006 and 2013. The presence of EDS ...
Jensen Siri Beier - - 2014
In this article, salivary gland dysfunction and xerostomia in Sjögren's syndrome (SS) are discussed, with a focus on the pathophysiology of salivary dysfunction in SS, the clinical presentation of dry mouth in SS, how to assess salivary gland hypofunction and xerostomia in SS, and the impact of salivary gland dysfunction ...
Kim Jeong Gyun JG Department of Neurosurgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, - - 2014
Ehlers-Danlos syndrome (EDS) is a rare inherited connective disease. Among several subgroups, type IV EDS is frequently associated with spontaneous catastrophic bleeding from a vascular fragility. We report on a case of carotid-cavernous fistula (CCF) in a patient with type IV EDS. A 46-year-old female presented with an ophthalmoplegia and ...
Thompson L H LH Department of Community Health Sciences, University of Manitoba, Winnipeg, MB, - - 2014
SUMMARY We evaluated syndromic indicators of influenza disease activity developed using emergency department (ED) data - total ED visits attributed to influenza-like illness (ILI) ('ED ILI volume') and percentage of visits attributed to ILI ('ED ILI percent') - and Google flu trends (GFT) data (ILI cases/100 000 physician visits). Congruity and correlation among these indicators ...
Miyake Noriko N Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan, - - 2014
Ehlers-Danlos syndrome (EDS) is a genetically and clinically heterogeneous group of connective tissue disorders that typically present with skin hyperextensibility, joint hypermobility, and tissue fragility. The major cause of EDS appears to be impaired biosynthesis and enzymatic modification of collagen. In this chapter, we discuss two types of EDS that ...
Ullah M Iftekhar MI Department of Medicine, University of Mississippi Medical - - 2014
Androgen deficiency syndrome in men is a frequently diagnosed condition associated with clinical symptoms including fatigue, decreased libido, erectile dysfunction, and metabolic syndrome. Serum testosterone concentrations decline steadily with age. The prevalence of androgen deficiency syndrome in men varies depending on the age group, known and unknown comorbidities, and the ...
Gorgel Sacit Nuri SN Department of Urology, Goksun State Hospital, Izmir Ataturk Training and Resarch Hospital, - - 2014
Purpose: We aimed to investigate the relationship between metabolic syndrome and sexual function and effective parameters on erectile dysfunction (ED). Materials and Methods: A total of 1300 individuals were included in this study betwe¬en January 2009 and July 2012. All of individuals were asked to fill in an International Index ...
Høst Christian - - 2013
Klinefelter syndrome (KS) (47, XXY) is the most abundant sex-chromosome disorder, and is a common cause of infertility and hypogonadism in men. Most men with KS go through life without knowing the diagnosis, as only 25% are diagnosed and only a few of these before puberty. Apart from hypogonadism and ...
Verim Levent L Department of Urology, Haydarpasa Numune Training Hospital, Istanbul, - - 2014
Disorders of sexual development (DSD) are congenital anomalies due to atypical development of chromosomes, gonads and anatomy. Complete androgen insensitivity syndrome (CAIS), also known as testicular feminization (TF) is a rare DSD disease. The majority of CAIS patients apply to hospital with the complaint of primary amenorrhea or infertility. Given ...
Castañeyra-Perdomo Agustín - - 2013
Kallmann syndrome (KS) is a genetic disorder which combines hypogonadotropic hypogonadism and anosmia. Hypogonadism is characterized by the absence or reduced levels of gonadotropin-releasing hormone and anosmia due to olfactory bulb aplasia. KS treatment usually begins just before puberty, but brain sexual maturation occurs long before puberty normally at perinatal ...
Mohan Dhanya - - 2013
Ectodermal dysplasia (ED) is a group of disorders involving developmental defects of the ectodermal structures, with abnormalities in the skin, hair, nails and sweat glands. Ankyloblepharon - ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is characterized by eyelid fusion, ED and cleft lip/palate. We report a 15-year-old ...
Markos Ar - - 2013
We conducted a literature review of patients' conditions described under persistent genital arousal disorder and restless genital syndrome, vulvodynia and male genital skin pain of unknown aetiology (penoscrotodynia). Our aim is to improve the understanding of the condition, unify nomenclature and promote evidence-based practice. The most prominent symptom in persistent ...
Siala Olfa O Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, - - 2013
Peters Plus syndrome (MIM 261540) is a rare autosomal recessive condition characterized by ocular defects (typically Peters anomaly) and other systemic major/minor abnormalities. Mutations in the B3GALTL gene encoding the β-1,3-glucosyltransferase have been found in virtually all patients with typical Peters Plus syndrome. We report here a female patient with ...
Petersen John W - - 2013
Long thought to be two separate syndromes, Ehlers-Danlos syndrome hypermobility type (EDS-HT) and benign joint hypermobility syndrome (BJHS) appear on close examination to represent the same syndrome, with virtually identical clinical manifestations. While both EDS-HT and BJHS were long thought to lack the genetic loci of other connective tissue disorders, ...
Choudhury Bipul Kumar - - 2013
Aim of the study was to assess the gonadal function of young adult males with metabolic syndrome and to compare them with healthy age matched controls. Forty young male subjects of age group 20-40 years who fulfilled the IDF criteria (2005) for diagnosis of metabolic syndrome were included in the ...
Ekinozu Ismail I Department of Cardiology, Faculty of Medicine, Duzce University, 81100 Duzce, Turkey. Electronic address: - - 2013
Sildenafil is a drug used for male erectile dysfunction. Sildenafil's fatal cardiac effects except due to hypotension with simultaneous nitrate use have not been reported.We reported in this case a 70-year-old man admitted to the emergency service with chest pain, which occurs in an hour after sildenafil use. Electrocardiogram showed ...
Lee K F - - 2013
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a well-known disorder of sexual development (previously known as ambiguous genitalia) in genotypic female neonates. We report on a 66-year-old Chinese, brought up as male, with a simple virilising form of congenital adrenal hyperplasia associated with Turner's syndrome (karyotype 45,X/47,XXX/46,XX). His ...
Foulkes A C AC Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, UK. - - 2013
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 ...
Gao Jingjing - - 2013
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: ...
Nieschlag Eberhard - - 2013
Klinefelter syndrome (KS) with the karyotype 47,XXY is one of the commonest types of congenital chromosomal disorder in males, with an incidence of 0.1% to 0.2% of newborn male infants. It causes hypogonadism and infertility. Until now, however, only about one-quarter of all persons with KS received the diagnosis during ...
Barajas Brenda D - - 2013
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, ...
Lee Marilyn C - - 2013
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.
Sanyal Debmalya - - 2013
Allgrove Syndrome or triple A syndrome is a rare familial multisystem disorder characterized by achalasia, alacrima and adrenal insufficiency. The objective was to describe a case of 4A syndrome where autonomic dysfunction was the presenting feature. A 22-year-old male presented with erectile dysfunction and loss of spontaneous morning erections for ...
Eder Johanna - - 2013
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 ...
Scheibye-Knudsen Morten - - 2013
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 ...
Kim Sung-Dae - - 2013
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 ...
Castori M - - 2013
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 ...
Burgess Ann W - - 2013
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 ...
Khangembam Bangkim Chandra - - 2013
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. ...
Handoko M Louis - - 2013
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. ...
Subramaniam Amudha - - 2013
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 ...
Karaa Amel - - 2013
The Ehlers Danlos syndromes (EDS) comprise a group of connective tissue disorders characterized by tissue fragility of the skin, ligaments, blood vessels and internal organs. Variable degrees of clinical severity and organ involvement are due to the molecular and biochemical heterogeneity of this group of disorders and have led to ...
Rouzi A A - - 2013
To report a case of urethral sex in a woman with previously undiagnosed Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A 32-year-old woman presented with severe pain, dysuria, and mild hematuria after each intercourse. Secondary sexual characteristics were normal. Vaginal and rectal examinations revealed an absent vagina and uterus. Further investigations showed a normal ...
Gür Serkan - - 2013
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 ...
Jeong Jeeyon J Department of Nutritional Sciences, University of Wisconsin-Madison, Madison, WI 53706, USA. - - 2012
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 ...
Daniela Melis - - 2012
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 ...
Littlewood Chris - - 2012
It is now over a decade since the features defining a contractile dysfunction of the shoulder were first reported. Since this time, some progress has been made to better understand this mechanical syndrome. In response to these developments, this narrative review will explore current understanding in relation to pathology, diagnosis, ...
Winters Kevin A - - 2012
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 ...
Hatake Katsuhiko - - 2012
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 ...
Jesus Lisieux Eyer de - - 2012
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 ...
Rigoli Luciana - - 2012
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 ...
Di Carlo A - - 2012
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 ...
Malaki Majid - - 2012
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.
Jeong Jae Hoon - - 2012
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 ...
Marschik Peter B - - 2012
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 ...
Saxena Ashok Kumar - - 2012
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 ...
Mihci Ercan - - 2012
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 ...
Redmond Christine L - - 2012
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, ...
Schmidt F - - 2012
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 ...
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