Moebius syndrome is a congenital facial palsy associated with the impairment of ocular abduction. The three-dimensional characteristics of the facial soft tissues of 12 male and 14 female subjects [3-52 yr of age (mean age + standard deviation: 17 + 14 yr)] were measured using a non-invasive, computerized system; facial ...

Four case records of patients with Seckel Syndrome (SS) were retrieved. Typical of bird headed dwarfism was seen in all. Chromosome 18 deletion was seen in one child with SS. MRI abnormalities were detected in 3 patients. Cytogenetic studies and neuroimaging is likely to provide important diagnostic and prognostic information.

The reactive airway dysfunction syndrome (RADS) is a type of occupational asthma without a latency period, and it is induced by irritating vapour, fume, or smoke. Although the onset of RADS has been related to over 30 different agents, it has not been previously associated with acute exposure to iodine, ...

Primary Sj?gren's syndrome was long a vexing dilemma, as the underlying pathophysiological mechanisms remained obscure, disease activity was challenging to evaluate, and no specific treatments were known to be effective. However, recent years have witnessed major advances in these three areas. Convincing evidence has been obtained that innate immunity, most ...

Rickettsia parkeri, a member of the spotted fever group rickettsias, was first described in 1939 and was thought to be non-pathogenic until recently, when it was found to cause a spotted fever-like illness in humans and areas of necrosis (eschars) at the sites of tick bites. Accordingly, there is currently ...

OBJECTIVE: To observe the clinical effect of acupuncture in treating cervical spondylosis with different syndrome types. METHODS: One hundred and seventeen patients were randomized into the treated group: (59 cases), treated with normal acupuncture, and the control group (58 cases), treated with sham acupuncture, operated once every other day, 9 ...

An 8.5-year-old girl evaluated for central cyanosis, hypoxia and normocarbia was found to have aorticopulmonary window and pulmonary hypertension. The diagnosis of Eisenmenger syndrome (ES) was made and treatment with bosentan was started. Four months later she was diagnosed to have juvenile rheumatoid arthritis and naproxen treatment was started. The ...

DiGeorge syndrome is associated with microdeletion of chromosome 22q11.2. Most cases occur sporadically although vertical transmission has been documented. We report a rare case of DiGeorge syndrome in an 8-year-old girl. Blood sample of the patient was cultured and harvested following standard procedure. All of the 20 cells analysed showed ...

OBJECT: Lumbar disc herniations are associated with segmental muscle alterations of the ipsilateral segmental multifidus muscle. The aim of the present study was a histopathological analysis of the myopathological changes of the multifidus muscle and correlation with the duration of radicular symptoms. METHODS: Multifidus muscle biopsies were performed in 20 ...

Complex regional pain syndrome (CRPS) along with post-operative syndrome in the lumbar spine shows confusing and duplicated symptoms, and this makes it difficult to make a clear differential diagnosis. Therefore, the patient with post-operative syndrome in the lumbar spine suffers losses of time and money, and the surgeon who diagnoses ...

This study used receiver operating characteristic (ROC) methodology and discriminative analyses to examine the correspondence of the Child Behavior Checklist (CBCL) rationally-derived DSM-oriented scales and empirically-derived syndrome scales with clinical diagnoses in a clinic-referred sample of children and adolescents (N = 476). Although results demonstrated that the CBCL Anxiety, Affective, ...

Objective. To determine the role of the fibrinolytic and antifibrinolytic systems in HELLP syndrome. Methods. This study consisted of patients with HELLP Syndrome (study group, n = 17), women who were admitted for routine prenatal care (pregnant control group, n = 21) and those presenting for routine gynecologic examination (non-pregnant control group, ...

OBJECTIVE: To present and evaluate the results of the Creatsas modification of Williams vaginoplasty for the creation of a neovagina in young women with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. DESIGN: Retrospective study. SETTING: Division of Pediatric-Adolescent Gynecology and Reconstructive Surgery, Second Department of Obstetrics and Gynecology, University of Athens, Aretaieion Hospital, Athens, ...

Diagnosing impingement syndrome without rotator cuff tear usually depends on the physical examination and roentgenography, and obtaining objective evidence for this condition is at best difficult. The purpose of this study was to ascertain whether quantitatively assessing this condition with using single photon emission computerized tomography (SPECT) can diagnose impingement ...

A 33-year-old man was admitted to our hospital because of fever and arthralgia. Radiographic findings revealed bilateral hilar lymphadenopathy (BHL) and enlargement of lymph nodes of the mediastinum. Tissue from a mediastinum lymph node showed noncaseating granulomas. An acute form of sarcoidosis, Lofgren's syndrome, was diagnosed. Prednisolone was administered. Because ...

BACKGROUND: non-thyroidal illness syndrome (NTIS) has been associated with an adverse clinical outcome. OBJECTIVE: to evaluate the prevalence of NTIS, its impact on patients' survival and the possible pathogenic role of systemic inflammation. DESIGN: observational cross-sectional analysis. PARTICIPANTS AND SETTING: three hundred and one acutely ill older patients (156 women; ...

A five year old girl was admitted to the hospital for evaluation of intermittent ataxia. She had undergone serial resections of the small intestine after birth, resulting in short bowel syndrome. Lactomin was prescribed for watery diarrhea at twice the regular dose 2 weeks before the onset of neurologic symptoms. ...

OBJECTIVE: Little is known about the long-term prevalence of elevated intracranial pressure (ICP), obstructive sleep apnoea (OSA), level of education, language and motor skills, impaired sight and hearing in craniosynostosis syndromes. The objective of this study was to define the prevalence per syndrome of elevated ICP, OSA, impaired sight and ...

BACKGROUND: The severe forms of Poland's syndrome, with thoracic deformity, were until now very difficult to treat, with treatment involving complex surgery and implant insertion. Results were, in general, inadequate and the appearance unnatural. Our experience with fat transfer for breast reconstruction led us to propose reconstruction of the breast ...

A 31-year-old woman with Youssef syndrome was reported. Vesicouterine fistula is responsible for the symptoms of Youssef syndrome. An easy and feasible diagnostic method of vesicouterine fistula is sonohysterography.

Postconditioning-alternating brief cycles of reperfusion/reocclusion applied at the beginning of revascularization-is a potent therapeutic technique, attenuating ischemia-reperfusion injury. Vascular surgery on the lower limb with ischemia-reperfusion injury may give rise to serious systemic complications [organ dysfunction syndrome (MODS), systemic inflammatory response syndrome (SIRS)], a phenomenon called reperfusion-syndrome. We studied the ...

OBJECTIVE: To evaluate anatomic and sexual outcomes in women with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome after laparoscopic Davydov (laparoscopic peritoneal vaginoplasty). DESIGN: Prospective follow-up study of patients with MRKH syndrome after vaginoplasty (Design classification: II-2). SETTING: Academic hospital. PATIENTS: Patients with MRKH syndrome and frequency-matched age-comparable healthy controls. INTERVENTION: Thirty-one patients with ...

Spontaneous Intracranial Hypotension (SIH) is an uncommon headache syndrome. Patients classically present with orthostatic headache, tinnitus, and diplopia. The authors reported a 43 year-old man who presented with orthostatic headache, tinnitus, and hearing impairment for 3 months. Physical examination was unremarkable except for auditory impairment. The audiogram revealed minimal low-frequency ...

Changes in moods are one of the comorbid psychiatric manifestations that frequently occur in patients with Tourette's syndrome. The assessment of a manic episode in children with Tourette's syndrome is challenging. Furthermore, the treatment of children with comorbid mania and Tourette's syndrome has not been extensively studied. We present a ...

Many authors have noted an association between Ménière syndrome and migraine headache. In an attempt to explore a possible link between these two disorders, we performed an epidemiologic study. The National Health Interview Survey (NHIS) includes interviews with tens of thousands of patients annually to estimate the incidence of various ...

BACKGROUND: Optical coherence tomography has emerged as a new tool for quantifying axonal loss in multiple sclerosis (MS). A reduction in retinal nerve fiber layer (RNFL) thickness is correlated with Expanded Disability Status Scale score and brain atrophy. OBJECTIVE: To investigate RNFL and macular volume measurements using optical coherence tomography ...

A 59-year-old woman presented with ascites and intraperitoneal lymph node swelling. Pathological examination of the lymph node revealed follicular lymphoma. After a lymph node biopsy, she developed atypical genital bleeding, multiple endocrine disorders, polyneuropathy with a high plasma level of vascular endothelial growth factor (VEGF), and was diagnosed with POEMS ...

The styloid process is a bony projection, located just anterior to the stylomastoid foramen, the normal length of which is approximately 20-25 mm. Elongation of the process may cause various clinical symptoms such as neck and cervicofacial pain, described as Eagle's syndrome. The present study aimed to determine the mean ...

Speed-accuracy trade-offs in persons with Down syndrome and typically developing controls were tested with a Fitts' task. Movement time scaled linearly with index of difficulty in both groups, and there were no accuracy differences. Persons with Down syndrome were slower than typically developing individuals. Regression analysis on movement time and ...

We describe the case of a 23-month-old girl with combined immunodeficiency syndrome and a left ventricular aneurysm. Due to the size of the aneurysm and development of an intramural thrombus, repair was performed after confirmation of bone marrow transplant engraftment. Endoventricular circular patch plasty (Dor procedure) was performed, with excellent ...

Figurative language, such as metaphor and metonymy, is very common in daily language use. Its underlying cognitive processes are sometimes viewed as lying at the interface of language and thought. Williams syndrome, which is a rare genetic developmental disorder, provides an opportunity to study this interface because individuals with this ...

The consequences of work-related stress on health are worrisome, and by the same token, so is Burnout Syndrome. However, it has been shown that social support can prevent, reduce or even combat individuals' responses to stress. A descriptive, transverse study was carried out with the objective of determining the prevalence ...

A 56-year old male presenting with acute coronary syndrome was found to have a large thrombus partially including a bypass graft bare metal stent. This thrombus was removed using a filter wire. The thrombus burden was so large that it caused extension through the filter wire basket, narrowly avoiding distal ...

Auditory brainstem evoked responses (ABRs) were compared in 15 newborns with Down syndrome and 15 sex-, age-, and weight-matched control newborns. Participants had normal ABRs based upon values specific to 32- to 42-weeks postconceptional age. Although Wave III and Wave V component latencies and the Wave I-III interpeak latency (IPL) ...

INTRODUCTION: Traumatic cauda equina syndromes due to projectile wounds often have a poor prognosis. We report on an unusual ballistic cauda equina traumatism with a good functional outcome. CLINICAL CASE: A 44-year-old man was admitted to emergency room for an incomplete cauda equina syndrome after trying to kill himself by ...

Synovitis, acne, palmoplantar pustulosis (PPP), hyperostosis, and osteitis (SAPHO) are the characteristic features of SAPHO syndrome. A 53-year-old woman had been treated for PPP for 2 years. She complained of hearing loss in the right ear, and otitis externa was diagnosed. The pure-tone audiogram (PTA) indicated mild hearing loss in ...

Upper-airway cough syndrome often coexists with other diseases that elicit chronic cough. However, the concomitant conditions are not always relevant to chronic cough, which complicates the cause diagnosis of chronic cough. The objective of this study was to explore the diagnosis and clinical implication of upper-airway cough syndrome with latent ...

A 21-year-old male developed significant swelling of his tongue after a respiratory arrest. The patient had a history of Hurler's syndrome. Magnetic resonance imaging (MRI) angiogram delineated that the swelling was due to compression of his internal jugular veins at the level of the first rib, resulting in thoracic inlet ...

Two feet-one hand syndrome (bilateral plantar tinea pedis with coexistent unilateral tinea manuum) is commonly seen in dermatology clinics, but the cause of the unilateral hand involvement remains unresolved. To investigate the unilateral hand involvement in this syndrome. This was a case-control study. The experimental group comprised 113 patients with ...

Standardized tests are widely used in intellectual disability research, either as dependent or control variables. Yet, it is not certain that their items give rise to the same performance in various groups under study. In the present work, 48 participants with Down syndrome were matched on their raw score on ...

In a subgroup of patients with neuromyelitis optica (NMO), a severe inflammatory demyelinating disorder of autoimmune origin characterized by recurrent attacks of optic neuritis and longitudinally extensive transverse myelitis, a parainfectious pathogenesis may play a central role. We systematically evaluated such reports in the literature published between 1975 and 2009 ...

A patient with classic Whipple's disease developed erythema nodosum leprosum-like lesions and fever one month after the beginning of an accurate therapy with trimethoprim-sulfamethoxazole. Immune reconstitution inflammatory syndrome was suspected, but corticosteroid therapy failed to improve the patient. Finally, thalidomide was used and successfully induced rapid improvement.

AIM: The objective of this retrospective study is to compare the medical treatment of neonatal narcotic abstinence syndrome with clonidine and chloral hydrate with the commonly used combination therapy of morphine and phenobarbital. METHODS: From 1998 to 2008, a total of 133 newborns suffering from neonatal narcotic abstinence syndrome were ...

Asperger's syndrome is a subgroup of autism characterized by social deficits without language delay, and high cognitive performance. The biological nature of autism is still unknown but there are controversial evidence associating an immune imbalance and autism. Clinical findings, including atopic family history, serum IgE levels as well as cutaneous ...

We report a rare case of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome in which the differential diagnosis included tuberculous spondylitis and the patient ultimately required reconstructive spinal surgery. The patient was a 60-year-old woman who presented with severe low-back and leg pain after treatment for tuberculosis. Roentgenography and magnetic ...

To compare the incidence of West syndrome (WS) and early infantile epileptic encephalopathy (EIEE) in Miyagi Prefecture, Japan, we studied retrospectively the medical records of cases involving WS or EIEE for the period 2000-2005. During this period, 45 children developed WS and one child was diagnosed with EIEE. The estimated ...

INTRODUCTION: Currently, efficacious treatment of restless genital syndrome (ReGS) is not available. AIM: This study aimed to report the results of transcutaneous electrical nerve stimulation (TENS) for ReGS, being a combination of genital dysesthesias, imminent and/or spontaneous orgasms, and/or restless legs, and/or overactive bladder. METHODS: Two women with ReGS were ...

OBJECTIVES: 22q11.2 deletion syndrome (22q11.2DS), also known as velocardiofacial syndrome (VCFS) or DiGeorge Syndrome, is a genetic disorder due to a micro deletion on chromosome 22q11.2. VCFS is associated with abnormalities in brain structure and with an increased risk of psychiatric disorders, particularly schizophrenia. The aim of this review was ...

BACKGROUND: Polycystic ovary syndrome (PCOS) and congenital adrenal hyperplasia (CAH) represent the most common causes of hyperandrogenism. Although the etiopathogeneses of these syndromes are different, they share many clinical and biochemical signs, such as hirsutism, acne, and chronic anovulation. Experimental data have shown that peripheral T-lymphocytes function as molecular sensors, ...

We describe a typical case of a patient with remitting seronegative symmetrical synovitis and pitting edema (RS(3)PE) syndrome. He underwent a successful clinical course monitored by serologic variables and radiographic methods. Serum levels of interleukin-6 (IL-6), vascular endothelial growth factor (VEGF), matrix metalloproteinase-3 and serum amyloid A were remarkably elevated. ...