Duane retraction syndrome (DRS) is a rare congenital strabismus condition with genetic heterogeneity. DRS associated with intellectual disability or developmental delay is observed in several genetic diseases: syndromes such as Goldenhar or Wildervanck syndrome and chromosomal anomalies such as 12q12 deletion. We report on the case of a patient with ...

Polysplenia, as part of the heterotaxy syndrome, is a rare embryological disorder which results from failure of development of the usual left-right asymmetry of organs. It is often associated with cardiac and biliary abnormalities, which are the usual causes of death in early neonatal life. A congenitally short pancreas and ...

PURPOSE:: Cardiovascular abnormalities are newly recognized features of duplication 17p11.2 syndrome. In a single-center study, we evaluated subjects with duplication 17p11.2 syndrome for cardiovascular abnormalities. METHODS:: Twenty-five subjects with 17p11.2 duplication identified by chromosome analysis and/or array-based comparative genomic hybridization were enrolled in a multidisciplinary protocol. In our clinical evaluation ...

Purpose:Cardiovascular abnormalities are newly recognized features of duplication 17p11.2 syndrome. In a single-center study, we evaluated subjects with duplication 17p11.2 syndrome for cardiovascular abnormalities.Methods:Twenty-five subjects with 17p11.2 duplication identified by chromosome analysis and/or array-based comparative genomic hybridization were enrolled in a multidisciplinary protocol. In our clinical evaluation of these subjects, ...

Ebstein anomaly is an uncommon congenital heart defect (CHD), characterized by downward displacement of the tricuspid valve into the right ventricle. To uncover the genetic associations with Ebstein anomaly, we have searched chromosomal imbalances using standard cytogenetic and array-CGH analysis, and single gene conditions associated with syndromic Ebstein anomaly (with ...

BACKGROUND: PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. OBJECTIVE: To report the spectrum of clinical and imaging abnormalities seen in a cohort of children. MATERIALS ...

We have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124 autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected parents, and, in most kindreds, an unaffected sibling. We find significant association of ASD with de novo duplications of 7q11.23, where the reciprocal deletion causes ...

Klippel-Feil syndrome (KFS) is a complex syndrome of osseous and visceral anomalies that include the classical clinical triad of short neck, limitation of head and neck movements and low posterior hairline. It may also be associated with anomalies of the genitourinary, musculoskeletal, neurologic and cardiac systems. We report a case ...

Arthrogryposis is a rare congenital disorder characterized by multiple fixed joint contractures. Decreased fetal movement, regardless of etiology, causes an immobilization of the affected joints and subsequent contractures. Amyoplasia refers to the most common variant of arthrogryposis in which patients develop symmetrical limb contractures because of muscle underdevelopment. It is ...

BACKGROUND: Nephrotic syndrome is caused by a variety of glomerulopathy. The current study investigated the renal histopathological spectrum of patients with nephrotic syndrome who received a renal biopsy in our department within the last 15 years. METHODS: One thousand five hundred and twenty-three consecutive patients (≥14 years old at renal ...

Purpose. To report a case of Cushing syndrome due to adrenocortical adenoma revealed by central serous chorioretinopathy. Materials and Methods. A 45-year-old man presented with blurred vision and metamorphopsia in the left eye. He reported few episodes of high blood pressure in the last 3 months. Results. Visual acuity was ...

A high frequency of the Cohen syndrome has been observed in a Greek island with 2,000 inhabitants and a high degree of inbreeding. All patients were homozygous for a COH1, exon 6-16 deletion suggesting a founder effect. We present the results of their first systematic ophthalmologic assessment. Myopia and chorioretinal ...

Kluver-Bucy syndrome (KBS) is a collection of neuropsychiatric symptoms, including visual agnosia (prosopagnosia), hypermetamorphosis, placidity, hypersexuality, and hyperorality. Although neuropsychiatric manifestation is prevalent in cases with systemic lupus erythematosus (SLE), only one literature reported a case with SLE that had KBS previously. In this article, a 37-year-old woman with SLE ...

X-linked Alport syndrome is associated in some families with diffuse leiomyomatosis. We describe herein, the pulmonary complications and outcome of three family members (mother, daughter and son). The three underwent esophagectomy at different age (22 years, three years and 15 months respectively). Their current forced expiratory volume in the first ...

This article highlights the most recent findings regarding the rehabilitation interventions for the syndromes of visual neglect and anosognosia for hemiplegia that occur following right hemisphere stroke. We review papers published in the past 4 years pertaining to therapeutic approaches for these two syndromes in order to identify the trends ...

Background: The syndrome of Bardet-Biedl is definite clinically by the association of obesity, polydactyly, pigmentary retinopathy, hypogonadism and backwardness. Aim: To study the epidemiologic, clinical, biological, genetic, therapeutic and evolutionary characteristic of our patients. Methods: We carried out a retrospective study concerning 11 hospitalized children and/or follow-ups with the service ...

Aim of the study was to describe prospectively the early neuropsychological evolution including the first pre-cognitive stages of the Severe Myoclonic Epilepsy in Infancy (SMEI) or Dravet syndrome. Five cases, four of whom since before a diagnostic evidence of the Dravet syndrome, were followed up. Full clinical assessment including developmental, ...

Monitoring the performance of triage systems is essential to optimize their usefulness in each hospital. The objective of this study was to assess the sensitivity of the Manchester Triage System in assigning high priority to patients with acute coronary syndrome, and the sensitivity and specificity of the combinations of flowcharts ...

Branchio-oculo-facial syndrome (BOFS) is a rare disorder characterized by maldevelopment of the first and second branchial arches, skin defects, facial dysmorphism, auricular, ophthalmological and oral abnormalities. A high clinical variability has been reported. Recently, mutations in TFAP2A were found to underlie this condition. A small duplication on 5q13 was detected ...

Acute otitis media complications are less and less common, thanks to the more widespread availability and use of adequate antibiotics. Nevertheless, when they occur, they may be inconspicuous or silent but with dangerous evolution. Described here is the case of a 5-year-old child suffering from incomplete Gradenigo syndrome without acute ...

Management of recurrent otitis media with rapid maxillary expansion: our experience. Recurrent otitis media is a frequent problem in the paediatric population. It is commonly associated with adenoid hypertrophy and occasionally with skeletal development syndrome characterised by maxillary anatomical alterations. When this syndrome is present in conjunction with adenoid hypertrophy, ...

Terson's syndrome is rarely encountered in ophthalmic practice. The ophthalmologists should be acquainted with the clinical features and methods of diagnosis of this syndrome. Here we report a middle-aged lady with altered sensorium, visual impairment and headache who was diagnosed as having Terson's syndrome after fundoscopy and spinal tap. It ...

We present a 27-year-old female Caucasian patient, who initially presented with extensive fragility and blistering of mainly the dorsal side of both hands. Histology and urine porphyrin analysis confirmed the diagnosis of porphyria cutanea tarda. Internal screening for underlying disease revealed C282Y mutation-associated primary hemochromatosis, a hereditary iron-overload syndrome that ...

Diethyl ether added as an entrainer (cosolvent) to near- and supercritical CO2 significantly enhanced the enantioselectivity of photocyclization of 5,5-diphenyl-4-penten-1-ol sensitized by saccharide naphthalenedicarboxylate to give a cyclization product in enantiomeric excesses much larger than those obtained in conventional organic solvents, revealing the unique features of nc- and sc-CO2 as ...

ACUT(2)E TSE-SSFP is a hybrid between steady state free precession (SSFP) and turbo spin echo (TSE) for bright-blood T2-weighted imaging with signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) similar to dark-blood TSE. TSE-SSFP uses a segmented SSFP readout during diastole with 180 degrees pulses following a 90 degrees preparation. The ...

5-hydroxytryptamine (5-HT) syndrome is a dangerous condition of 5-HT excess that can occur during co-administration of a monoamine oxidase (MAO) inhibitor and an antidepressant. We investigated the effects of acute administration of MAO inhibitors and subchronic administration of tricyclic and heterocyclic antidepressants, and a serotonin-noradrenaline reuptake inhibitor (SNRI) on 5-HT ...

BACKGROUND: Of the acquired ear canal atresias, idiopathic, inflammatory, medial meatal, fibrotising otitis has been suggested as a distinct disease entity, for reasons of aetiology. OBJECTIVE: To report three more cases of idiopathic, inflammatory, medial meatal, fibrotising otitis and to further consider the possible relationship between this condition and lichen ...

Hearing loss in mucopolysaccharidosis is usually both conductive and sensorineural. The conductive component is attributable to serous otitis media secondary to dysfunction of the eustachian tube and chronic thickening of the mucosa of the middle ear. The conductive component may persist after myringotomy and insertion of short-term or long-term ventilation ...

CSF hypocretin-1 measurements were performed during a period of hypersomnia and during an asymptomatic interval in a 14-year-old girl affected with severe Kleine-Levin syndrome. A twofold decrease in hypocretin-1 was evidenced during the period of hypersomnia in comparison with the asymptomatic interval. Together with previous data, this result is in ...

5-hydroxytryptamine (5-HT) syndrome is a dangerous condition of 5-HT excess that can occur in the case of co-administration of a monoamine oxidase (MAO) inhibitor and a serotonin reuptake inhibitor (SSRI). The goal of the present study was to investigate the effects of acute administration of MAO inhibitors and subchronic administration ...

PFOS and PFOA are ubiquitous contaminants in the environment. We investigated the effects of fluorochemicals on calcium currents in Paramecium caudatum using its behavioral changes. Negatively charged amphiphiles prolonged backward swimming (BWS) of Paramecium. PFOS significantly prolonged BWS, while PFOA was less potent (EC(50): 29.8+/-4.1 and 424.1+/-124.0microM, respectively). The BWS ...

We report about a boy with the symptoms of Gradenigo's syndrome (abducens nerve palsy, acute otitis media, unilateral headache). The MR imaging showed a sinus vein thrombosis instead of the expected petroapicitis. After 2 weeks of conservative therapy with antibiotics and anticoagulation, without any clinical effort the boy underwent a ...

In a previous study, we reported that ginseng extract has anxiolytic-like effects in the elevated plus-maze model and that the ginseng saponin fraction plays an important role. This experiment was performed to investigate the anxiolytic-like effects of ginsenosides Rb1, Rg1, Rg3-R, and Rg3-S, and the Rg5 and Rk mixture isolated ...

Gradenigo syndrome in children during otitis media is a very rare complication since the use of antibiotics: nevertheless, it must be taken into account in case of otitis media, abducens nerve paralysis and facial pain in regions innervated by the first and second division of trigeminal nerve. We report the ...

We studied the effect of bilateral laser destruction of rat anterior cingulate gyrus on the analgesic effect of morphine and development of tolerance and physical dependence on morphine. Bilateral laser destruction of the anterior cingulate gyrus did not modulate pain sensitivity, analgesic effect of morphine, and development of morphine tolerance. ...

Otitis media is a commonly seen condition in the Emergency Department. The complications of otitis media that were seen frequently in the preantibiotic era are now rare today. We report a case of a diabetic man who presented with otorrhea, retro-orbital pain, and diplopia secondary to a sixth cranial nerve ...

This article reviews three disorders associated with multiple asymmetric cranial nerve deficits in ruminants: encephalitic listeriosis,otitis media/interna, and pituitary abscess syndrome. Emphasis is placed on encephalitic listeriosis, an infectious disease of the brainstem and cranial nerves caused by Listeria monocytogenes. The epidemiology, pathophysiology, clinical manifestations, diagnosis,and treatment of encephalitic listeriosis ...

We present a superstring-inspired version of D-term inflation that does not lead to cosmic string formation and appears to satisfy the current cosmic microwave background constraints. It differs from minimal D-term inflation by a second pair of charged superfields that makes the strings nontopological (semilocal). The strings are also Bogomol'nyi-Prasad-Sommerfield ...

Variegate porphyria is a rare, hereditary form of hepatic porphyria characterized by acute systemic symptoms as in acute intermittent porphyria in addition to cutaneous symptoms simulating porphyria cutanea tarda. We describe a 22-year-old female from India who first presented to the emergency department with acute symptoms and was later confirmed ...

Ear cleaning helps maintain the normal otic environment and is important in the treatment of otitis. Over cleaning, however, may trigger otitis through maceration of the epidermal lining. Simple manual cleaning is useful for routine cleansing but doesn't remove tightly adherent debris. Bulb syringes are more vigorous but may damage ...

Fitz-Hugh-Curtis syndrome--inflammation of the liver capsule associated with genital tract infection--occurs in up to one fourth of patients with pelvic inflammatory disease (PID). Classically presenting as sharp, pleuritic right upper quadrant pain, usually but not always accompanied by signs of salpingitis, it can mimic many other common disorders such as ...

Five patients are reported with acute intermittent porphyria in whom attacks were apparently precipitated by international air travel. In four subjects this was the initial presenting attack and in a fifth the cause of an acute relapse in a patient requiring regular haem arginate prophylaxis. Multifactorial precipitants implicated include, dehydration, ...

Gradenigo syndrome is a rare presentation of acute petrositis. The clinical triad of Gradenigo syndrome consists of acute suppurative otitis media, severe unilateral headache and abducens nerve palsy. We report the first case of Gradenigo syndrome caused by Streptococcus acidominimus, a Gram-positive coccus of the Streptococcus viridans group, which rarely ...

The NCRP has recently defined RBE values and a new quantity (Gy-Eq) for use in estimation of deterministic effects in space shielding and operations. The NCRP's RBE for neutrons is left ambiguous and not fully defined. In the present report we will suggest a complete definition of neutron RBE consistent ...

Cadina-4,10(15)-dien-3-one (1) was metabolised by Curvularia lunata ATCC 12017 in two different growth media to give three metabolites, one of which, 12-hydroxycadina-4,10(15)-dien-3-one (4), was new. Incubation of 3alpha-hydroxycadina-4,10(15)-diene (2) with the fungus produced three new analogues, namely, (4S)-1alpha,3alpha-dihydroxycadin-10(15)-ene (5), 3alpha,14-dihydroxycadina-4,10(15)-diene (6) and 3alpha,12-dihydroxycadina-4,10(15)-diene (7).

Williams syndrome (WS) is a rather rare congenital disorder characterised by a series of cardiovascular, maxillo-facial and skeletal abnormalities. It sometimes displays otorhinolaryngological symptoms because of the relatively high incidence of secretory otitis media and hyperacusis, which may be present in up to 95% of patients. The present paper describes ...

Antennal sensilla patterns were used to explore intraspecific variability among Triatoma infestans (Klug) from domestic habitats in Argentina and Bolivia, and from sylvatic habitats in Bolivia. The sensilla pattern was effective in distinguishing individuals at sexual, ecotopic, and geographic levels, and supported the idea of a lack of gene flow ...

Mary is a 55 year old woman on hormone replacement therapy. She is flying to the UK with her husband in a few weeks time, and is concerned about the recent media attention given to the 'economy class syndrome'. Mary's sister developed a similar problem after surgery some years ago. ...

An interface bioreactor was used for the enantioselective degradation of (RS)-ibuprofen (IBU). An isolated yeast, Trichosporon cutaneum KPY 30802, preferentially degraded (R)-IBU to accumulate (S)-isomer. The addition of hydroquinone (10 mM) into a hydrophilic carrier was effective for the elevation of enantiomeric excess and the repression of excess degradation of ...

Gradenigo syndrome consists of the association of otitis media, facial pain in regions innervated by the first and second division of trigeminal nerve and abducens nerve paralysis. It is caused by osteitis of the petrous apex (PA) and is a very rare complication of otitis media. Its treatment usually consists ...