The aim of the study: by historical and prospective cohort studies to investigate the validity of postconcussion syndrome as a useful clinical entity in adults. The objectives of the study: 1. To determine the prevalence and degree of headache, dizziness and cognitive dysfunction as well as headache diagnoses after concussion ...

PURPOSE OF REVIEW: High-frequency oscillatory ventilation (HFOV) is an attractive alternative to conventional lung protective ventilation. Adequate gas exchange is achieved with very small tidal volumes cycling at a high mean airway pressure. This may prevent injury from inspiratory overdistention and expiratory alveolar collapse. Most patients demonstrate improvements in oxygenation ...

Objective. The lower limbs are frequently involved in neurovascular compression syndromes, owing to their anatomical, vascular and muscular characteristics and to the orthostatic position. These syndromes were identified by exclusion, using neuroimaging techniques and treated by microsurgical techniques. Methods. Eight patients with a neurovascular compression syndrome due to venous vascular ...

We investigated autism spectrum disorder (ASD) symptomatology, hyperactivity and affect in seven genetic syndromes; Angelman (AS; n = 104), Cri du Chat (CdCS; 58), Cornelia de Lange (CdLS; 101), Fragile X (FXS; 191), Prader-Willi (PWS; 189), Smith-Magenis (SMS; 42) and Lowe (LS; 56) syndromes (age range 4-51). ASD symptomatology was heightened in ...

Propofol infusion syndrome (PRIS) is a rare but frequently fatal condition. It is characterized by cardiovascular collapse and metabolic derangement due to propofol exposure. The pathophysiology of PRIS is poorly understood, and its study has previously been limited to animal models and clinical observations. We present the first in vivo ...

A 37 year old woman with Marfan's syndrome underwent an elective gynecologic procedure. Mask ventilation was not difficult but initial direct laryngoscopy showed no view of the glottic opening. The patient's trachea was quickly and successfully intubated using a supraglottic jet ventilation technique. The technique provided oxygenation and ventilation during ...

The current study investigated whether contrasting face recognition abilities in autism and Williams syndrome could be explained by different spatial frequency biases over developmental time. Typically-developing children and groups with Williams syndrome and autism were asked to recognise faces in which low, middle and high spatial frequency bands were masked. ...

: Cryptophthalmos was first described in 1872 as a rare syndrome consisting of congenital upper eyelid and eyebrow coloboma and a rudimentary ocular bulb. Later, Fraser described it as being part of a complex syndrome with multiple anomalies. Many cases have been described since then, but very few surgical techniques ...

We report iridocorneal endothelial syndrome in a male who presented at the age of 16 years with a 3-year history of complaints of blurred vision, altered pupillary shape, and monocular diplopia OD. The examination was notable for unilateral effacement of the iris architecture, stretch holes, corectopia, and localized ectropion uveae. ...

This study investigated the association between clinical and salivary or molecular parameters in Down syndrome subjects. Sixty individuals (1- to 48-year old) were clinically examined using DMFT/DMFS. Stimulated saliva was collected; salivary flow was calculated (mL/min), buffering capacity was measured using a standard pH tape. In addition, 25 μL of saliva ...

Immune reconstitution syndrome (IRS) is an increasingly common condition that has been described in immunosuppressed individuals once immune function is restored. In this case, we describe a patient who had a renal transplant and subsequently developed pulmonary histoplasmosis. His course was also complicated by the development of a clinical syndrome ...

Objective: To describe the clinical and hormonal characteristics of patients with Sheehan syndrome.Methods: We performed a 20-year cohort study (1969 to 1989) of patients with Sheehan syndrome who were cared for in the endocrinology unit of the México Hospital in San José, Costa Rica. Medical history, physical examination findings, and ...

The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is one of the most common causes of primary amenorrhoea and is associated with vaginal atresia and absent uterus despite the presence of normal ovaries and external genitalia. Various techniques have been used, with many disadvantages, to create a neovagina. Our aim is to create a ...

Our knowledge of the phenotypes of inherited bone marrow failure syndromes (IBMFSs) derives from case reports or case series in which only one IBMFS was studied. However, the substantial phenotypic overlap necessitates comparative analysis between the IBMFSs. Shwachman-Diamond syndrome (SDS) is an IBMFS that the appreciation of what comprises its ...

Down syndrome children show a decreased avidity of the antibody response after tetanus toxoid booster vaccination at 9 years of age suggesting impaired memory B cell selection in the germinal center. Clinicians need to be aware of this ongoing subtle immunologic deficit in Down syndrome.

There are many causes of paraspinal muscle weakness which give rise to the dropped-head syndrome. In the upper cervical spine the central portion of the spinal cord innervates the cervical paraspinal muscles. Dropped-head syndrome resulting from injury to the central spinal cord at this level has not previously been described. ...

Thenar hammer syndrome is a very rare condition that mimics rheumatic diseases such as carpal syndrome tunnel, Raynaud's phenomenon, and hand synovitis. To describe the sonographic presentation of thenar hammer syndrome in a typical patient. Grey-scale sonography and colour Doppler imaging of the hands with an iU22 scanner (Philips) were ...

doi:10.1111/j.1741-2358.2009.00319.x Exfoliative cytology of the oral mucosa in burning mouth syndrome: a cytomorphological and cytomorphometric analysis Objective:  The aim of this study was to evaluate oral epithelial cells by exfoliative cytology in burning mouth syndrome (BMS). Material and methods:  Oral smears were collected from clinically normal-appearing mucosa by liquid-based exfoliative ...

Hypoplastic left heart syndrome is a major congenital heart defect and is associated with significant morbidity and mortality. Its etiology remains unknown although genetic studies imply complex inheritance. Anecdotal reports of cluster presentations suggest the possible involvement of an environmental component, although previous epidemiologic studies have been of limited scope. ...

Recent research has been focused on those attributes that appear to buffer a person against the stresses and strains of living with a visible difference. To provide some insight on how young adults with Crouzon syndrome handle their life. Telephone interviews were carried out with eight Crouzon syndrome individuals (six ...

To compare the outcomes of fetuses with apparently isolated macrocephaly and those with associated findings, and to compare prenatal findings with postnatal diagnoses in children with syndromic macrocephaly. We reviewed the files of all patients referred for suspected fetal macrocephaly, during a 10-year period from 2000, to a large prenatal ...

Objective: To describe a case of SRY gene translocation in a man with scleroderma presenting with primary hypogonadism.Methods: We present the clinical, physical, laboratory, and pathologic findings of the study patient and discuss the cytogenetic analysis and the cause of the sexual dysfunction. Relevant literature is reviewed.Results: A 35-year-old man ...

We report a case of a 69-year-old man with dropped head syndrome associated with isolated neck extensor myopathy (INEM). Over a period of 2 years, he exhibited progressive inability to lift his chin off his chest, resulting in the dropped head position that impaired his activities of daily living. He ...

In this paper, the authors describe an anesthetic technique for a child with Apert syndrome, presenting to the operating room for a syndactyly separation. The anesthetic approach is innovative for the clinic and is a combination of intravenous anesthesia and two regional techniques (axillary block and transversus abdominis plane block, ...

Congenital constriction ring syndrome (CCRS) is a congenital anomaly with a wide spectrum of clinical presentation. The accepted method of correcting a circular constriction is to excise the deep part of the constriction, and break the line of the circular scar with multiple Z- or W-plasties. Specific correction of soft ...

Post-thrombotic syndrome (PTS) is a chronic complication of deep vein thrombosis (DVT) affecting a large number of patients. Because of its potential debilitating effects, identification of patients at high risk for the development of this syndrome is relevant, and only a few predictors are known. Objectives: To assess the incidence ...

Wernicke's encephalopathy (WE) is an acute or subacute syndrome that results from a deficiency in vitamin B1 (thiamine). The syndrome is characterised by a classical triad of symptoms: nystagmus and ophthalmoplegia,mental-status changes, and unsteadiness of stance and gait. When patients with WE are inappropriately treated with low doses of thiamine, ...

Lesch-Nyhan syndrome (LNS) is an X-linked disorder originating from deficiency of the enzyme hypoxanthine guanine phosphoribosyl transferase. It is characterized by neurological manifestations, including the dramatic symptom of compulsive self-mutilation, which results in destruction of oral and perioral tissues. Several drug trials have been administered to improve the severe self-destructive ...

MGMT expression in tumors has been correlated with response to treatment with temozolomide therapy. Few medical therapies are available for Nelson syndrome, and the efficacy of such therapeutics remains limited. The aim of the present study was to assess immunohistochemical expression of MGMT in ACTH-secreting pituitary adenomas of patients with ...

To evaluate detection and false-positive rates of the ultrasound markers-nasal bone (NB), ductus venosus (DV) flow and tricuspid regurgitation (TR)-during the first trimester in a population at high genetic risk, and to study the influence of a two-stage screening policy alter previous combined screening on the rate of invasive procedures. ...

A hemodialysis patient suffered from circulation failure due to a low output syndrome caused by a hyperkalemia (9.9 micromol/l) with typical ecg signs. An emergency hemodialysis was started. After 2 h ecg signs of hypokalemia (2.1 micromol/l) were detectable. Hemodialysis was stopped. 2 h later, serum potassium rose to 6.2 ...

A 36 years old woman underwent tonsillectomy for recurrent tonsillitis. At about one week in the postoperative period, she developed sudden onset severe ("thunderclap"), recurrent headaches and focal neurological signs including visual disturbances, ataxia and myoclonic jerks. Serial imaging with MRI, MRA and CT angiography revealed reversible white matter focal ...

We describe the case of a 10-year-old girl who developed behavioral changes consistent with Klüver-Bucy Syndrome following Listeria meningoencephalitis at 2½years of age. MRI at age 4 revealed evidence of diffuse brain atrophy with predominant temporal lobe involvement. Electroencephalograpy at 9½years of age showed abnormal electrical discharges from the left ...

A 16-year-old girl was admitted to the emergency department because of acute changes in mental state such as paranoid and nihilistic delusions, confabulations, and distortions of body schema perception. Her history was compatible with anorexia nervosa in that she had lost more than 17 kg in weight over one and ...

There have been very few small studies or case reports in the literature considering noninvasive postmortem imaging as supplement to autopsy, especially in fetuses with skeletal dysplasias. Apert syndrome accounts for 4.5% of all patients with craniosynostotic syndromes. It is classically characterized by the triad of coronal craniosynostosis, midfacial hypoplasia, ...

Since its discovery in the winter of 2005-2006, white-nose syndrome (WNS) has killed over one million little brown bats (Myotis lucifugus) in the American northeast. Although many studies have reported die-offs of bats at winter hibernacula, it is important to understand how bat mortality linked to WNS at winter hibernacula ...

It is now well established that morphological change of podocytes is closely correlated to the development of proteinuria. The aim of this study was to investigate the role of podocalyxin, a major podocyte protein, in the pathogenesis of glomerulopathies primarily associated with the nephrotic syndrome. Immunohistochemical expression of podocalyxin has ...

Syndrome-specific behavior was proposed by Langdon Down in his first clinical descriptions. Research interest followed but waned during the eugenics era when antisocial behavior was attributed to people with intellectual disability (ID) and the US Supreme Court legalized involuntary sterilization. When these claims were refuted and behavioral treatments introduced, their ...

Rubinstein-Taybi syndrome (RTS) is a rare developmental disorder characterized by craniofacial dysmorphisms, broad thumbs and toes, mental and growth deficiency, and recurrent respiratory infections. RTS has been associated with CREBBP gene mutations, but EP300 gene mutations have recently been reported in 6 individuals. In the present study, the humoral immune ...

Reversible posterior leukoencephalopathy syndrome (RPLS) is a recently identified clinical and radiologic entity. The characteristic radiologic findings are bilateral gray and white matter edema in the posterior regions of the cerebral hemispheres. The typical clinical syndrome includes headache, confusion, visual symptoms, and seizures. RPLS most often occurs in the setting ...

To test the fit of a seven-syndrome model to ratings of preschoolers' problems by parents in very diverse societies. Parents of 19,106 children 18 to 71 months of age from 23 societies in Asia, Australasia, Europe, the Middle East, and South America completed the Child Behavior Checklist for Ages 1.5-5 ...

This report describes the case of a young athlete, who presented with a painful foot and was eventually diagnosed with early-stage Mueller-Weiss syndrome (spontaneous osteonecrosis of the navicular) by MRI. As non-operative management was unsuccessful, a percutaneous decompression of the navicular was performed. The patient made a full recovery and ...

Both severe hypokalemia and persistent hypertension are clinical symptoms of hyperaldosteronism. Hyperaldosteronism may occur as a primary or secondary syndrome. Excess ACTH produced ectopically by tumors may induce hyperaldosteronism through the mineralocorticoid activity of glucocorticoids that are upregulated by ACTH. Licorice, with the active ingredient glycyrrhiza, is also a well-known ...

In addition to the previously known lifelong and acquired premature ejaculation (PE) syndromes, the existence of two more PE syndromes has been suggested: natural variable PE and premature-like ejaculatory dysfunction. However, epidemiological studies investigating the prevalence of these four PE syndromes have yet to be conducted. To determine the prevalence ...

Multiregional wide-distribution hemorrhages of the left hemisphere occurred at 1month of age in a girl with congenital factor V deficiency. At the age of 4months, symmetrical spasms appeared in clusters and electroencephalography showed diffuse background attenuation in the left side and hypsarrhythmia only in the right. Brain CT scan showed ...

The morphology of gastric hamartomatous polyps from patients with juvenile polyposis syndrome (JuvPS) and Peutz-Jeghers' Syndrome (PJS) is poorly characterized. We investigated the histologic features of gastric polyps in patients with established JuvPS or PJS to develop improved histologic criteria to distinguish these from gastric hyperplastic (HP) polyps. The patients ...

We present a rare case of a rectothecal fistula arising from an anterior sacral meningocele in a patient with Currarino syndrome. The patient was a 40-year-old woman presenting with cauda equina syndrome and ascending meningitis. The meningocele was removed using an anterior abdominal approach. A sigmoid resection was performed with ...

Lymphangioleiomyomatosis (LAM) is a systemic, progressive, and fatal condition affecting almost exclusively women in their reproductive years. LAM most often occurs as a sporadic disease, but also occurs in women with tuberous sclerosis complex (TSC) (syndromic LAM). There are no pathologic differences between sporadic and syndromic LAM. Sporadic LAM is ...

Probenecid (PRB) is an agent that reduces the systemic level of uric acid, and has the ability to inhibit the renal tubular secretion of agents that are co-administered with it. In this study, we evaluated the effects of PRB co-administered with mizoribine (MZR) on the pharmacokinetics (PK) of MZR in ...

The study of neurological soft signs (NSS) in patients with Asperger syndrome may help us to elucidate the neurological basis of this disorder and to clarify its relationship with other neurodevelopmental disorders. The goal of this study was to compare the prevalence of NSS in a sample of patients with ...