In this manuscript, we report the first patient who suffered from Klinefelter syndrome with aplastic anemia and hyperprolactinemia.

To examine the interaction of types and numbers of antecedent nonbladder syndromes (NBSs) to seek clues to the pathogenesis of interstitial cystitis/painful bladder syndrome (IC/PBS). Numerous case series have shown IC/PBS to be associated with several syndromes that do not include bladder symptoms. In a previously reported case-control study, we ...

We report the case of a patient with steroid-resistant nephrotic syndrome which is caused by a renal amyloidosis. This clinical case is characterized by intensity of clinicals and biologicals abnormalities and by its uncommun cause. We also review current data on the nephrotic syndrome as well as on the systemic ...

Congenital malformations involving the Müllerian ducts are observed in around 5% of infertile women. Complete aplasia of the uterus, cervix, and upper vagina, also termed Müllerian aplasia or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, occurs with an incidence of around 1 in 4500 female births, and occurs in both isolated and syndromic forms. ...

OBJECTIVE: We explored the effects of the oral histone deacetylase (HDAC) inhibitor ITF2357 in patients with autoinflammatory syndromes. METHODS: In this prospective open-label pilot study 8 patients were enrolled; One patient with Tumour Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS), 3 patients with hyper-IgD and periodic fever syndrome (HIDS) and ...

This syndrome, while common, is not well recognised in the rheumatology literature. We describe two cases, one classical and one unusual with ultrasound illustrations. The literature, from the original description in 1883, is reviewed with a focus on both the clinical and anatomical variants.

BACKGROUND: Although patients with idiopathic VTE are at higher than normal risk of asymptomatic atherosclerosis and of cardiovascular events, the impact of cardiovascular risk factors on VTE is poorly understood. OBJECTIVE: To assess the prevalence of the metabolic syndrome and of its components in patients with early-onset idiopathic VTE. METHODS: ...

Subjects with Down syndrome have a high prevalence of periodontal disease. The aim was to investigate the level of Th1-, Th2- and Th17-related cytokines in the gingival crevicular fluid (GCF) of subjects with Down syndrome. Subjects with Down syndrome (n = 24) and controls (n = 29) with a mean age of 16.4 years were ...

Hyperglycemia is associated with several common neurological syndromes. Chorea, however, is a rare association that has only been documented in the literature recently. The triad of chorea, non-ketotic hyperglycemia and a high signal basal ganglia lesion on the T1 weighted brain MRI (C-H-BG) is considered to be a unique syndrome. ...

Compartment syndrome of the calf has received a great deal of attention in the literature. A MEDLINE search was conducted to identify English-language publications pertaining to compartment syndrome of the leg and calf so that principles, recent evidence, and best practices for the diagnosis and treatment of this syndrome could ...

Restless legs syndrome (RLS) is a neurological disorder with a lifetime prevalence of 3-10%. in European studies. However, the diagnosis of RLS in primary care remains low and mistreatment is common. The current article reports on the considerations of RLS diagnosis and management that were made during a European Restless ...

Chronic fatigue syndrome is an idiopathic syndrome widely suspected of having an infectious or immune etiology. We applied an unbiased metagenomic approach to try to identify known or novel infectious agents in the serum of 45 cases with chronic fatigue syndrome or idiopathic chronic fatigue. Controls were the unaffected monozygotic ...

Acute compartment syndrome of the lower limb is a rare but severe intra- and post-partum complication. Prompt diagnosis is essential to avoid permanent functional restriction or even the loss of the affected limb. Clinical signs and symptoms might be nonspecific, especially in the early stages; therefore, knowledge of predisposing risk ...

To provide a comprehensive review of dengue, with an emphasis on clinical syndromes, classification, diagnosis, and management, and to outline relevant aspects of epidemiology, immunopathogenesis, and prevention strategies. Dengue, a leading cause of childhood mortality in Asia and South America, is the most rapidly spreading and important arboviral disease in ...

Andersen Tawil syndrome is a rare type of channelopathy characterized by the presence of periodic paralysis, cardiac arrhythmia (prolonged QT interval or ventricular arrhythmia) and distinct dysmorphic abnormalities. It is a type of potassium channelopathy that occurs sporadically or by autosomal dominant inheritance. We report a 14 year old boy ...

We report our findings for a patient with orbital apex syndrome associated with herpes zoster ophthalmicus. Our patient was initially admitted to a neighborhood hospital because of nausea and loss of appetite of 10 days' duration. The day after hospitalization, she developed skin vesicles along the first division of the ...

The present study focuses on schizophrenia patient subgroups with specific symptom pattern using the Positive and Negative Syndrome Scale (PANSS). In this report, we intend to (1) provide a more appropriate analytic method for exploring the subgroups based on PANSS data, (2) validate identified subgroups with external variables, and (3) ...

The clinical syndrome of lumbar spinal stenosis (LSS) is a common diagnosis in older adults presenting with lower extremity pain. To systematically review the accuracy of the clinical examination for the diagnosis of the clinical syndrome of LSS. MEDLINE, EMBASE, and CINAHL searches of articles published from January 1966 to ...

Acetazolamide is a sulfonamide derivative and carbonic anhydrase inhibitor used to lower intraocular pressure in glaucomatous patients. Stevens-Johnson syndrome (SJS) toxic epidermal necrolysis (TEN) associated with acetazolamide treatment has been diagnosed in Japanese, Japanese-American and Indian patients. Herein, we report the second Korean case of SJS-TEN associated with acetazolamide treatment. ...

A 37-year-old woman suffered from sudden hemiparesis due to an ischemic stroke. Physical examination revealed dysmorphic features, cognitive impairment, and emotional lability. Radiological studies showed multiple intracranial arterial stenoses, and laboratory examination revealed diabetes mellitus, dyslipidemia, and endocrinological abnormalities consistent with secondary amenorrhea. Karyotyping disclosed partial monosomy of the short ...

Pregnancy is a risk factor for transient restless legs syndrome, which usually recovers during the postdelivery period. The goal of the present survey is to investigate whether restless legs syndrome during pregnancy represents a risk factor for later development of restless legs syndrome. A long-term follow-up study, planned as an ...

OBJECTIVE: To report the responses to IVF surrogacy attempts in a female with a heretofore never described combination of Mayer-Rokitansky-Kuster-Hauser (MRHK) syndrome and triple X karyotype. DESIGN: Case report. SETTING: Reproductive unit of a university-affiliated medical center. PATIENT(S): A 29-year-old female diagnosed as having both MRHK syndrome and a triple ...

The Structured Interview for Prodromal Syndrome (SIPS) from Yale University is intended to diagnose prodromal syndrome of psychosis and to measure the severity of prodromal symptoms. Here, a Korean version of SIPS is presented, and its reliability, validity, and factor structures are examined using a representative Korean sample. The Korean ...

Multiple organ failure (MOF) emerged 30 years ago and became our research focus. Over the years, we have proposed a series of cartoons that rallied multidisciplinary translational research teams around common themes to generate "win-win" hypotheses that when tested (right or wrong) have advanced our understanding of MOF. MOF has ...

Systemic capillary leak syndrome, or the Clarkson syndrome, is an extremely rare condition in which increased capillary permeability results in a massive shift of fluid into the extravascular space. This is followed rapidly by hypotensive shock, haemoconcentration, and, potentially, substantial oedema of the limbs resulting in an acute compartment syndrome. ...

Surgical procedures necessitating the prolonged use of the lithotomy position can be associated with neuromuscular dysfunction. Compartment syndrome of the lower leg is a grave complication which, if unrecognized, can lead to either permanent neuromuscular dysfunction or limb loss. We report a case of compartment syndrome of lower leg that ...

Williams syndrome, also known as Williams-Beuren syndrome (OMIM database entry 194050), is now known to be commonly associated with a hemizygous chromosomal deletion at 7.q11.23. The way in which the condition came to be recognized historically is reviewed along with some biographical details of the people involved.

Cannabinoid hyperemesis has recently been described in the literature. It is a syndrome characterized by severe nausea and hyperemesis in the setting of chronic marijuana abuse and, to date, has been described only in adults. We describe the syndrome in 2 pediatric patients, for whom extensive gastrointestinal workups failed to ...

Wernicke's encephalopathy is an acute neurological syndrome due to thiamine deficiency, which is characterized by a typical triad of mental status changes, oculomotor dysfunction and ataxia. Despite the fact that Wernicke's encephalopathy, in developed countries, is frequently associated with chronic alcoholism, there have been a number of published cases associating ...

Analysis of 819 participants enrolled in the Rett syndrome (RTT) Natural History Study validates recently revised diagnostic criteria. 765 females fulfilled 2002 consensus criteria for classic (653/85.4%) or variant (112/14.6%) RTT. All participants classified as classic RTT fulfilled each revised main criterion; supportive criteria were not uniformly present. All variant ...

Recurrent intussusception is one of the common modes of presentation in patients with Peutz-Jeghers syndrome. This report presents a case of Peutz-Jeghers syndrome with synchronous duodenojejunal and jejunojejunal intussusceptions due to hamartomatous polyps. Very few cases of duodenojejunal intussusception in Peutz-Jeghers syndrome patients have so far been reported in the ...

The periodic syndromes represent a heterogeneous group of disorders that can be very difficult for practicing physicians to diagnosis and treat. This article presents an orderly approach to hyperimmunoglobulin D syndrome; tumor necrosis factor receptor-1 periodic syndrome; familial Mediterranean fever; periodic fever with aphthous stomatitis, pharyngitis, and adenitis syndrome; and ...

A term male newborn was noted to have severe diffuse hypotonia, hyporeflexia, hepatosplenomegaly, and characteristic abnormal facies of Zellweger syndrome, the diagnosis of which was confirmed by identification of 2 mutations including Nt2098insT, a frameshift with premature stop codon in exon 13, as well as a novel second mutation at ...

Reversible cerebral vasoconstriction syndrome (RCVS) is a cerebrovascular disorder associated with multifocal arterial constriction and dilation. RCVS is associated with nonaneurysmal subarachnoid hemorrhage, pregnancy and exposure to certain drugs. The primary clinical manifestation is recurrent sudden-onset and severe (‘thunderclap’) headaches over 1–3 weeks, often accompanied by nausea, vomiting, photophobia, confusion ...

Fevers in children are mainly due to infection, malignancy or inflammatory conditions. Rheumatologists have an important role in the care of inflammatory conditions, many of which are associated with fevers. Seven conditions, the hereditary recurrent fever syndromes, have been defined with the presenting symptom of recurring fever, and for which ...

Bradycardia in neurosurgery is almost always assumed to be secondary to intracranial conditions, specifically raised intracranial pressure causing Cushing's reflex, the trigemino-cardiac reflex or brainstem lesions. We present a case of posterior fossa surgery in which persistent bradycardia developed in the postoperative period. A cardiac cause was initially overlooked since ...

Objective:  We evaluated emergency department (ED) data, emergency medical services (EMS) data, and public utilities data for describing an outbreak of carbon monoxide (CO) poisoning following a windstorm. Methods:  Syndromic ED data were matched against previously collected chart abstraction data. We ran detection algorithms on selected time series derived from ...

In infants with intracranial hemorrhage, the most common cause of intraocular hemorrhages is abusive head trauma. Terson syndrome is rare in infants, and the retinal findings, although not well reported in the literature, are generally limited to the posterior pole. We report a case of a 7-month-old boy who developed ...

Dermatoglyphics is important in anthropology and medical genetics, chiefly because of their diagnostic usefulness. We studied the ridges of finger tips and palm in six Klinefelter's syndrome patients (47,XXY) in the present work. Then the results were compared with equal number of controls. Statistical analysis was done using EPI- info, ...

Restless legs syndrome (RLS) is a common sleep-related neurological disorder that is characterized by the urge to move, worsening at rest, improvement with activity, and worsening in the evening and night. Dopamine agonists are usually the first-line therapy. Other agents including benzodiazepines, narcotics, and anticonvulsants have been used to treat ...

Vim stimulation is effective in Parkinsonian and essential tremor. Our aim is to prove that it is also effective in other complex tremor syndromes such as Holmes' tremor. A 31-year-old previously healthy man developed resting, action, and postural tremor in bilateral upper extremities and orolingual region, which was suggestive of ...

"Reversible cerebral vasoconstriction syndrome" (RCVS) is a recently described entity that is mainly characterized by the association of severe ("thunderclap") headaches with or without additional neurological symptoms and diffuse, multifocal, segmental narrowings involving large and medium-sized cerebral arteries. By definition, angiographic abnormalities disappear within 3 months. The clinical course is ...

INTRODUCTION: Irukandji syndrome is because of envenoming by a number of small jellyfish. It results in a delayed onset of generalized pain, sweating hypertension, and tachycardia. There is no antivenom. CASE REPORT: A 44-year-old healthy male was stung while swimming in NE Australia. He rapidly developed Irukandji syndrome. He had ...

Hyperimmunoglobulinemia D and periodic fever syndrome, an autoinflammatory syndrome, is caused by mutations in the gene coding for mevalonate kinase. The disease is clinically characterized by recurrent attacks of fever accompanied by an array of inflammatory symptoms including lymphadenopathy, rash, arthritis, and gastrointestinal complaints. Most patients have their first attack ...

BACKGROUND: Intraventricular hemorrhage, which has a poor prognosis, is an extremely rare presenting symptom of central nervous system vasculitis. Sneddon syndrome, which is a systemic vasculitic disease, generally presents with ischemic stroke and livedo reticularis. Intraventricular hemorrhage is extremely rare in Sneddon syndrome and has not been reported as the ...

PURPOSE: To improve understanding of vision loss and clinical findings, we studied gross and microscopic pathology of retinas and optic nerves of individuals with Terson's syndrome. DESIGN: Retrospective case series with clinicopathologic correlation. PARTICIPANTS: We included 109 deceased individuals with Terson's syndrome. METHODS: Histologic sections and gross photographs from 109 ...

Terson's Syndrome represents vitreous hemorrhage due to intracranial hemorrhage. A series of 18 adult eyes with Terson's Syndrome, due to either traumatic brain injury or ruptured aneurysm, successfully managed with 25-gauge vitrectomy was reported. All patients had improved vision, although some had limitation due to effects of surgery or the ...

Rift Valley fever (RVF) virus is an emerging pathogen that is transmitted in many regions of sub-Saharan Africa, parts of Egypt, and the Arabian peninsula. Outbreaks of RVF, like other diseases caused by hemorrhagic fever viruses, typically present in locations with very limited health resources, where initial diagnosis must be ...

Traumatic superior orbital fissure syndrome is an uncommon complication of craniomaxillofacial trauma with an incidence of less than 1%. The syndrome is characterized by ophthalmoplegia, ptosis, proptosis of eye, dilation and fixation of the pupil, and anesthesia of the upper eyelid and forehead. This article describes a detailed anatomy of ...

BACKGROUND: The mechanism of Terson's syndrome is controversial. Here we report magnetic resonance (MR) imaging findings of Terson's syndrome that may help clarify the mechanism responsible for vitreous hemorrhage. CASE: A 49-year-old man suffered from subarachnoid hemorrhage with bilateral intraocular hemorrhage. Fundus examination revealed sub-internal limiting membrane and retinal hemorrhages ...