ABSTRACT: INTRODUCTION: A growing interest has arisen in salivary proteomics as a tool for the identification of biomarkers for primary Sjogren's syndrome (pSS). Nonetheless, only a limited number of preclinical validation studies have been performed, limiting the possibility of translating proteomic results into clinical practice. The primary aim of this ...

Foreign accent syndrome (FAS) is a motor speech disorder in which changes to segmental as well as suprasegmental aspects lead to the perception of a foreign accent in speech. This paper focuses on one suprasegmental aspect, namely that of intonation. It provides an in-depth analysis of the intonation system of ...

Flow cytometry (FC) is recognized as an important tool in the diagnosis of myelodysplastic syndromes (MDS) especially when standard criteria fail. A working group within the Dutch Society of Cytometry aimed to implement FC in the diagnostic work-up of MDS. Hereto, guidelines for data acquisition, analysis and interpretation were formulated. ...

BACKGROUND: Primary ciliary dyskinesia (PCD) is a clinically uniform entity, but cilia motility and structure can vary between patients, making the diagnostic difficult. The aim of this study was to evaluate the sensitivity and specificity in diagnosing PCD of a system of high-resolution digital high-speed video analysis with proprietary software ...

Diffusion tensor imaging (DTI) was used to investigate the involvement of brain white matter in Williams syndrome (WS), a genetic neurodevelopmental disorder. Whole-brain DTIs were obtained from 16 young adults with WS and 16 normal controls. A voxel-based analysis was performed to compare fractional anisotropy (FA) values between the two ...

This paper presents an analysis of the Arruda accessory pathway localization method for patients suffering from Wolff-Parkinson-White syndrome, with modifications to increase the overall accuracy. The Arruda method was tested on a total of 79 cases, and 91.1% localization performance was reached. After a deeper analysis of each decision point ...

Prader-Willi syndrome and Angelman syndrome are distinct neurodevelopmental disorders that are associated with the deletion of the chromosomal 15q11-13 region or uniparental disomy of chromosome 15. In this article, we applied SYBR Green I-based, real-time PCR and melting curve analysis assay for rapid genotyping of the small nuclear ribonucleoprotein polypeptide ...

Multilocus variable number tandem repeat analysis (MLVA) was compared to multilocus sequence typing (MLST) to differentiate hemolytic uremic syndrome-associated enterohemorrhagic Escherichia coli. Although MLVA was - like MLST - highly discriminatory (index of diversity: 0.998 vs. 0.984), low concordances demonstrated the limited ability of MLVA to reflect long-term evolutionary events.

We report on a cross-syndrome comparison of hand, foot, eye and ear laterality in three groups of individuals with different genetic disorders (trisomy 21, del7q11.23, and del22q11.2) to test the relationship between atypical laterality and intellectual disability. These groups were compared to a group of typically developing persons. Hand, foot, ...

We describe a French young man with digital anomalies consisting of brachydactyly, F1-5 bilateral camptodactyly, interdigital webbing, F5 bilateral radial clinodactyly, and partial syndactyly of some fingers and toes. He had psychomotor retardation, short stature, umbilical hernia, a secundum atrial septal defect, seizures, hearing impairment, and dysmorphic features consisting of ...

Kabuki make-up syndrome (KMS) is a multiple malformation/mental retardation syndrome that was first described in Japan but is now reported in many other ethnic groups. Kabuki make-up syndrome is characterized by multiple congenital abnormalities: craniofacial, skeletal, and dermatoglyphic abnormalities; mental retardation; and short stature. Common hand anomalies associated with KMS ...

Haim Munk Syndrome (HMS) is the allelic mutation of exon 6 codon in cathepsin C gene. Here, we present two cases of same family with HMS having all the cardinal features of HMS which includes palmo plantar keratoderma and periodontitis along with arachnodactyly, acroosteolysis, onychogryphosis, and marked osteopenia on hand ...

Ascites in systemic lupus erythematosus (SLE) had once been thought to only occur as a consequence of nephrotic syndrome, protein-losing enteropathy, constrictive pericarditis or Budd-Chiari syndrome. In more recent years, both acute and chronic lupus peritonitis have been documented as another major cause of lupus ascites. Acute lupus peritonitis with ...

Alien hand syndrome is a rare neurological disorder characterized by involuntary and uncontrollable motor behaviour, usually of an arm or hand. The patient perceives the affected limb as alien, and may personify it. The case of a 61-year-old right-handed woman who developed right posterior AHS after ischaemic stroke in the ...

Carpal tunnel syndrome (CTS) is a neurological impairment caused by compression of the median nerve throughout the carpal tunnel, which consequently induces ischemia and mechanical disruption, dysfunctional axonal transport, and epidural blood flow. Most common symptoms include numbness, rather than pain, with a typical night exacerbation, weakness, paresthesia, and loss ...

Regular exposure to hand-transmitted vibration can result in symptoms and signs of peripheral vascular, neurological and other disorders collectively known as the hand-arm vibration syndrome (HAVS). A significant proportion of workers can suffer from HAVS after using vibrating power tools. HAVS is a chronic and progressive disorder. Early recognition and ...

When evaluating foot and hand malformations in children, the orthopaedic surgeon must always consider the possibility of a more serious underlying syndrome with other accompanying abnormalities of organogenesis. We report the case of a 13-year-old female with Hand-Foot-Genital syndrome presenting to our foot and ankle clinic with tarsal coalition and ...

Acute compartment syndrome occurs when pressure within a fibro-osseous space increases to a level that results in a decreased perfusion gradient across tissue capillary beds. Compartment syndromes of the hand, forearm, and upper arm can result in tissue necrosis, which can lead to devastating loss of function. The etiology of ...

Palmar-plantar erythrodysesthesia (PPE), also called hand-foot syndrome, is a relatively common dermatologic toxic reaction associated with cytotoxic chemotherapy that can limit the use of such drugs. Definitive prevention and treatment strategies for PPE have not yet been established. We present a patient with recurrent ovarian cancer developing severe hand-foot syndrome ...

The Takotsubo syndrome (TTS) is a transient myocardic hypoadyskinesis so called for its typically aspect like the cages used by Japanese fisherman to trap octopus. Presently, several etiologies were considered for the development of TTS, the most accredited ones suggest that stress, adrenoreceptor hyperactivity and estrogens are the most important ...

Radiocontrast agents are a type of medical contrast material used to improve the visibility of internal bodily structures in X-ray based imaging techniques such as computed tomography (CT) or radiography. Radiocontrast agents are typically iodine or barium compounds.Extravasation of contrast is a possible complication of imaging studies performed with contrasts. ...

To describe phenotyping and linkage analysis results for available members from a consanguineous nuclear family with hereditary congenital strabismus. Both parents and all 12 children underwent clinical examination. Available affected and several unaffected family members had venous blood sampling for DNA extraction and 10K single nucleotide polymorphism (SNP) genotyping (Affymetrix ...

We present an 8.9 year old girl diagnosed with autism and macrocrania. Because of macrocrania, hypertelorism and epidermal punctiform lesions in the palm of the hand, Gorlin syndrome was clinically suspected and molecularly confirmed by finding a deletion of 22 base pairs in the PTCH1 gene. The possibility of an ...

We report a 41-year-old woman with Scheie syndrome diagnosed after cerebral infarction. She presented with acute onset dysarthria and right upper limb weakness. The neurologic findings revealed dysarthria, right central facial paralysis, mild right hemiparesis, and mild sensory impairment in the right arm and leg. Diffusion-weighted magnetic resonance imaging (MRI) ...

A 62-year-old man was admitted to our department because of the sudden onset of dysaesthesia in the right perioral region of the face and right hand. Neurological examination demonstrated a loss of pain and temperature sensation in both the right perioral region and in the fingers of the right hand. ...

Apert syndrome is characterized by craniosynostosis, midfacial malformations and symmetrical syndactyly of the hands and feet. We report a case of prenatal sonographic diagnosis of Apert syndrome. Mild ventriculomegaly with normal head shape observed at 22 weeks gestation, followed by colpocephaly at 25 weeks gestation and bilateral syndactyly and subsequent ...

To report the result of ranibizumab administration in an eye with ocular ischaemic syndrome. Fluorescein angiography, ocular pneumoplethysmography and retinal vessel calibre measurement. An 85-year-old man with ocular ischaemic syndrome demonstrated vision loss, retinal vessel calibre constriction and profound retinal ischaemia after intravitreal ranibizumab. We advise against the use of ...

A 59-year-old man with adenocarcinoma of stomach was prescribed capecitabine as adjuvant chemotherapy. After two cycles of therapy, patient developed hyperpigmentation on hands and feet. Examination revealed a peculiar distribution of hyperpigmentation on hands and feet and in addition, hyperpigmented spots on the dorsum of tongue. Although hand-foot syndrome (HFS) ...

Hypnic headache is a rare short-lasting headache occurring exclusively during sleep in the elderly population. First described in 1988 by Raskin, this headache syndrome was adopted by the International Classification of Headache Disorders in 2004 within the "other primary headache" group (code 4.5). Since then, additional case reports and case ...

The pathological findings of corticobasal degeneration are associated with several distinct clinical syndromes, and the corticobasal syndrome has been linked with a number of diverse pathologies. We have reviewed all the archival cases in the Queen Square Brain Bank for Neurological Disorders over a 20-year period with either a clinical ...

We report the incidence of late onset post-operative carpal tunnel syndrome (late carpal tunnel syndrome) and late median nerve neuropathy after volar plating of distal radius fracture by conducting a retrospective study on volar plating for distal radius fracture performed during 2002 to 2006. Two hundred eighty-two volar plating were ...

The concept of a sinus headache is problematic from neurology, allergology, and rhinology perspectives. It may be considered the final neurological diagnosis of exclusion when criteria for other craniofacial pain syndromes are not met. The International Headache Society definition implicates the presence of acute sinusitis, but this requirement is often ...

Nummular headache (NH) is a recently described headache syndrome where continuous or intermittent pain is localised to a coin-shaped region of the skull. NH can be a primary headache disorder or secondary to intracranial or extracranial pathology. We report a four-year-old boy who presented with nummular headache co-localised with a ...

Orbital apex syndrome (OAS) is a rare condition due to a range of pathological processes around the optic nerve foramen and the superior orbital fissure causing characteristic functional loss. It is a rare complication of trauma and results from penetrating injuries as well as those involving bony fractures. We present ...

Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT) is characterized by severe and frequent daily pain attacks causing transient physical disability for the patients during the headache period. Currently there is no option for abortive treatment of the attacks, mainly due to the short-lived nature and frequency ...

Patients presenting with acute coronary syndromes are classically described as having chest pressure with radiation to the left arm. However, pain can be referred to multiple sites including the face, the neck, the abdomen and the contra-lateral arm. We present a case of sudden bilateral ear pain as the sole ...

Ocular ischemic syndrome encompasses a spectrum of clinical findings that result from chronic ocular hypoperfusion. It is relatively uncommon, and the diagnosis may be difficult to make because of its variable presentations. The presence of an ocular ischemic syndrome always implies underlying severe carotid occlusive disease and may be its ...

Takayasu's, or "pulseless," disease is a rare, idiopathic, chronic granulomatous vasculitis that affects large arterial blood vessels. Ocular manifestations occur as a consequence of obliteration of the carotid artery, and ocular ischemia may develop. A 14-year-old girl with progressive visual loss and ocular ischemic syndrome secondary to Takayasu's disease is ...

PURPOSE OF REVIEW: To summarize general concepts of ocular ischemic syndrome (OIS), and present current scientific developments in delineating the pathogenesis and treatment of this disorder. RECENT FINDINGS: Recent studies suggest that OIS is associated with a significant risk of cerebrovascular, ocular, and systemic morbidity. SUMMARY: OIS is a serious ...

Neuro-ocular cutaneous syndrome is a rare and little-known illness. It affects the ocular apparatus, the nervous system and the skin. The disease causes pathologies such as phacomatosis, which is a generic term used to describe small cutaneous neoformations, as well as other ectodermal organ malformations (ocular apparatus and central nervous ...

The history of post-traumatic headache begins in the middle of the 19th century, and its latest iteration has been defined in the International Headache Classification of 2004. Contrary to the latter, there are instances when mild head injury without symptoms or signs of concussion may evoke the pathophysiological changes of ...

Mulibrey nanism is a rare autosomal recessive disorder with prenatal onset growth retardation (nanism) and dysmorphic features, including a wide range of abnormalities, such as cardiac disease (pericardial constriction, myocardial hypertrophy and fibrosis) and anomalies of muscle, liver, brain and eye, resulting in the acronym 'mulibrey'. This commentary summarizes recent ...

The trigeminal autonomic cephalalgias (TACs) are a group of primary headache syndromes all marked by headache and associated autonomic features. The TACs include cluster headache, paroxysmal hemicrania, hemicrania continua, and short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing syndrome. Diagnosis is made after looking at headache frequency, duration, ...

Charles Bonnet syndrome (CBS) is an under-recognized and commonly misdiagnosed condition characterized by the presence of visual hallucinations that psychologically normal people acknowledge as being unreal. It is commonly associated with ocular pathology and usually observed in elderly individuals with visual impairment. The exact etiology of CBS is unknown; however, ...

OBJECTIVE: Characterization of headaches in premenstrual syndrome (PMS). Although headache is one of the symptoms for PMS, no details on this headache are given by the American College of Obstetrics and Gynecology (ACOG) criteria. METHOD: A group of 45 fertile age women presenting PMS were invited to complete a registration ...

Malaria is an important tropical mosquito-borne infectious disease. In this article, the author briefly reviewed headache profile in patients with malaria focusing on its mechanism. Headache is an important presentation in malaria, either cerebral type or not. The cytokine is believed to be an important factor leading to headache in ...

BACKGROUND: Amyotrophic lateral sclerosis (ALS)-Plus syndromes meet clinical criteria for ALS but also include 1 or more additional features such as dementia, geographic clustering, extrapyramidal signs, objective sensory loss, autonomic dysfunction, cerebellar degeneration, or ocular motility disturbance. METHODS: We performed a whole-brain and spinal cord pathologic analysis in a patient ...

The surface ultrastructure (SEM) of adult worms and eggs of the equine caecal fluke, Gastodiscus aegyptiacus, together with some pathological observations of the caecum and colon of infected horses were studied. SEM showed that G. aegyptiacus had a disc-like body with anterior cone-like part. The oral sucker was surrounded by ...

Agnosias demonstrate the broadest spectrum of pathology of consciousness in neurology and psychiatry. Agnosias wipe off the definite functions from the brain's activity precisely and completely, allowing the consciousness to be investigated in itself. Thorough investigations of confabulatory manifestations disclose the rationale for the development of pathological functions and point ...

Retinal and optic nerve sheath hemorrhages are an essential part of the various forms of inflicted neurotrauma in infants, especially in its most common variant, the shaken baby syndrome (SBS). Clinically, ophthalmologists play an important part for the diagnosis and further management of patients with SBS. For the forensic pathologist, ...