Mucopolysaccharidosis (MPS) is a group of rare metabolic diseases characterized by intralysosomal accumulation of glycosaminoglycans. MPS type VI or Maroteaux-Lamy syndrome is an autosomal-recessive syndrome caused by mutations in the lysosomal enzyme arylsulfatase B. A defect in the gene leads to accumulation of nondegraded mucopolysaccharides, resulting in severe cellular dysfunction ...

Propofol is an anesthetic agent widely used for induction and maintenance of anesthesia, and sedation in children. Although generally considered as reliable and safe, administration of propofol can occasionally induce a potentially fatal complication known as propofol infusion syndrome (PRIS). Mitochondrial dysfunction has been implicated in the pathogenesis of PRIS. ...

PURPOSE: To assess pupil dynamics quantitatively in relation to the use of α(1)-adrenoceptor antagonists, which contribute to the features of intraoperative floppy iris syndrome, using a new, hand-held, digital pupillometer. DESIGN: Prospective case-control study. METHODS: We studied 15 and 25 patients administered tamsulosin and alfuzosin, respectively, as well as 25 ...

Opsoclonus myoclonus is a rare autoimmune condition characterized by cerebellar degeneration. It occurs most often as a paraneoplastic syndrome when a cancer remote to the brain induces cerebellar dysfunction that is unrelated to metastases. Half of all cases occur in children with a neuroblastoma. Most adults with opsoclonus myoclonus have ...

Thousands of persons experience accidental high-level irritant exposures each year but most recover and few die. Irritants function differently than allergens because their actions proceed nonspecifically and by nonimmunologic mechanisms. For some individuals, the consequence of a single massive exposure to an irritant, gas, vapor or fume is persistent airway ...

OBJECTIVE: To report a case of probable domperidone-induced tardive dyskinesia and withdrawal psychosis in an elderly woman. CASE SUMMARY: A 75-year-old woman was first assessed for cognitive decline and personality changes. On clinical examination, diffuse choreoathetoid movements were noted. Chronic domperidone use seemed the most likely cause for the movement ...

Cocaine has been associated with a number of cutaneous manifestations, and most reports in the literature have described cocaine-induced vasculitis. However, not all reactive patterns secondary to cocaine use are vasculitic in nature. Recently, there has been a disturbing trend of "cutting" cocaine with pharmacologically active substances, the most common ...

It is important to consider a comprehensive differential of possible rhinitis types when considering the diagnosis of chronic rhinitis, including at least 9 subtypes of nonallergic rhinitis: drug-induced rhinitis, gustatory rhinitis, hormonal-induced rhinitis, infectious rhinitis, nonallergic rhinitis with eosinophilia syndrome, occupational rhinitis, senile rhinitis, atrophic rhinitis, and nonallergic rhinopathy. This ...

Haemolytic uraemic syndrome (HUS) accounts for the most common cause of childhood acute renal failure. Characterized by the classical triad of a microangiopathic haemolytic anaemia, thrombocytopaenia and acute renal failure, HUS occurs as a result of Shiga-toxin producing microbes in 90% of cases. The remaining 10% of cases represent a ...

A battery of biomarkers has recently been developed in the earthworm Eisenia andrei. In this study, different biomarkers (i.e. Ca(2+)-ATPase activity, lysosomal membrane stability-LMS, lysosomal lipofuscin and neutral lipid content) were utilized to evaluate the alterations in the physiological status of animals, induced by exposure for 3d to different sublethal ...

Stevens-Johnson syndrome (SJS) is a rare immunologic reaction that may involve skin or various mucosal surfaces. The etiology may range from multiple pharmacologic agents to viral infections. Associated findings can range from minimal skin and mucosal involvement to extensive dermal exfoliation, nephritis, lymphadenopathy, hepatitis, and multiple serologic abnormalities. We report ...

Rotational vertebral artery syndrome (RVAS) is characterized by recurrent attacks of paroxysmal vertigo, nystagmus, and ataxia induced by head rotation. Although recent report has described the RVAS as an important but unrecognized cause of isolated vascular vertigo, the locus of injury site responsible for isolated vertigo in RVAS is still ...

Phenytoin is commonly used an antiepileptic medication for seizure prophylaxis in patients with brain metastases. In these oncology patients group, phenytoin-induced severe adverse reactions may occur. Antiepileptic, particularly phenytoin-induced severe skin reactions including Stevens-Johnson syndrome (SJS) and bullous form of erythema multiforme have been reported in the patients treated with ...

Immunosuppressants and inhibitors of the renin angiotensin system are major reagents to treat nephrotic syndrome but their clinical effects are not necessarily satisfactory. Injection of doxorubicin in several strains of mice causes nephrotic syndrome-like disorder. Zhou et al. report that PPAR-α expression is downregulated in murine doxorubicin nephropathy and a ...

Heparin-induced thrombocytopenia type II is an immune-mediated syndrome that may arise in a time-dependent manner after heparin therapy. Thrombocytopenia and thrombosis in patients exposed to heparin are suggestive of this syndrome.

Individuals with Down syndrome have well known cognitive and sensorimotor impairments, however, the underlying neural processes are poorly understood. The objective of this study was to investigate the underlying spatial localization and functional connectivity during voluntary movements of the right index finger. Adults with Down syndrome and healthy control adults ...

Antibiotic-responsive diarrhea (ARD) is an idiopathic syndrome causing chronic diarrhea in young, large-breed dogs. Why antibiotics are effective in controlling diarrhea is not understood, and whether small intestinal bacterial numbers are truly increased is now doubted, but previous focus on the condition being small intestinal bacterial overgrowth has hampered the ...

Sensitivity to intentionality in people with Asperger's syndrome (AS) and matched controls was investigated using two scenario-based tasks. The first compared intentional and unintentional human actions and physical events leading to the same negative outcomes. The second compared intentional actions that varied in their subjective and objective likelihood of bringing ...

Gilles de la Tourette's syndrome (TS) is a neuropsychiatric movement disorder characterised by the presence of multiple tics. Tics have an unusual, intermediate status between voluntary and involuntary movements. This ambiguity might involve not just a disorder of movement generation but also an abnormality of voluntary experience. Here the experience ...

A 64-year-old man had been admitted to a previous hospital because of melena and a diagnosis of ulcerative colitis (UC, pancolitis type) had been made. He had received prednisolone and 5-ASA but steroid-induced hyperamylasemia had developed. Prednisolone had been tapered and halted, but it had resulted in UC relapse and ...

"Athetosis," from the Greek athetos, meaning "without fixed position," is a movement disorder first described by Hammond in 1871. The term described slow, irregular continual movements of the distal extremities. In 1983, Foley defined the athetoid syndrome as "a nonprogressive but evolving disorder due to damage to the basal ganglia ...

Propylthiouracil (PTU) is an antithyroid drug which is known to cause drug-induced vasculitis. PTU is implicated in 80-90% of cases of anti-neutrophil cytoplasm circulating antibody (ANCA)-associated vasculitis caused by anti-thyroid drugs which induce ANCA production. Sweet's syndrome is characterized by fever, leucocytosis, neutrophilia and the sudden onset of painful skin ...

A 50-year-old man with a 30-year occupational history of welding presented with low-grade fever, fatigue and persistent dry cough. Computed tomography (CT) of the chest revealed interlobular septal thickening and bilateral non-segmental patchy ground-glass opacities except in the sub-pleural zone. He revealed that he had inhaled nickel fumes 3 days ...

The patient was a 51-year-old man who had been prescribed carbamazepine for right third-branch trigeminal neuralgia. He had stopped taking the medication after the neuralgia resolved. When the neuralgia recurred, he resumed medication, and about 1 month later he developed fever, fatigue, cervical lymphadenopathy, generalized skin flushing, facial edema and ...

We present the occurrence of 'torsade de pointes' induced by the combination of peroperative fluconazole administration and sevoflurane anesthesia in a patient with 'long QT syndrome' (LQTS) scheduled for resection of a sacral abscess. Eight minutes following uneventful induction of anesthesia 'torsade de pointes' occurred, terminated by a counter shock. ...

Schnitzler syndrome encompasses monoclonal gammopathy, urticaria, inflammation, recurrent fever, bone pain and arthralgia, with occasional lymphadenopathy and/or hepatosplenomegaly. It is a rare condition with approximately 100 cases reported in the literature. To our knowledge, this is the first reported case of cold-induced physical urticaria with Schnitzler syndrome. A 43-year-old woman ...

Primary Meige syndrome is an idiopathic movement disorder that manifests as craniofacial and often cervical dystonias. Deep brain stimulation (DBS) of the globus pallidus internus (GPi) has emerged as a powerful surgical option in the treatment of primary generalized or segmental dystonia. However, the experience with GPi-DBS in Meige syndrome ...

This article presents a case of cerebellar cognitive affective syndrome to remind the general physician of the profound effect that the cerebellum exerts over executive functioning, visuospatial cognition, personality and linguistic ability. Described in a variety of underlying cerebellar pathologies, it is important that this often overlooked syndrome is remembered, ...

Opsoclonus myoclonus syndrome is a rare paraneoplastic syndrome seen in 50% of children with neuroblastoma. Neural generator of opsoclonus and myoclonus is not known but evidences suggest the role of fastigial nucleus disinhibition from the loss of function of inhibitory (GABAergic) Purkinje cells in the cerebellum. We present a child ...

The use of routinely available electronic sources of healthcare data on the spread of influenza has the potential to enhance current surveillance activities. This study aimed to develop a method for identifying influenza-related records from general practitioner(GP) out-of-hours (OOH) services in Ireland. Data from one such service were interrogated for ...

The general population expects dentists to be well-versed in the typical and atypical orofacial characteristics of all potential patients. As a result, dentists must possess a reasonable amount of knowledge concerning the physical and intraoral traits associated with developmental disorders such as those associated with Robinow syndrome, Cockayne syndrome, and ...

The Alport syndrome is a hereditary glomerular disease linked to structural abnormalities of collagen IV. In a mouse model of Alport syndrome, the interstitial lymphocyte influx was important for disease progression. CXCR3 is a chemokine receptor involved in lymphocyte recruitment to the kidney. We hypothesized that CXCR3-positive T cells might ...

Alport syndrome is a familial progressive nephritis. The most frequent type is X-linked Alport syndrome, caused by genetic abnormalities in the alpha 5 chain of type IV collagen. Skin biopsy is a useful tool for diagnosing this disease. It is not well known how this syndrome affects pregnancy and how ...

Carl A Pinkert and Shey-Shing Sheu, Faculty Advisors. Thesis - (PhD) - Genetics, Genomics and Development, School of Medicine and Dentistry, University of Rochester.

Includes bibliographical references.

A 25-year-old MECP2-mutated female with odd developmental and dyspraxic/ataxic features, followed up through two decades, is reported. She does not fit either the classical Rett syndrome or the criteria required for any Rett variant phenotypes so far described. Nevertheless, she belongs clinically to the latter group. This case deserves attention ...

Trans Urethral Resection of Prostate (TURP) syndrome is one of the commonest and dreaded complications of urological endoscopic surgery. Even in the best of hands, the incidence of TURP syndrome is up to 20% and car-ries a significant mortality rate. This paper highlights the various pathophysiological mechanisms of TURP syndrome, ...

Rett syndrome and Angelman syndrome are neurodevelopmental disorders characterized by severe intellectual disability, microcephaly, speech disturbance, movement disorders with gait and/or truncal ataxia, and occasionally a similar facial appearance. Both conditions can be difficult to diagnose in girls early in their clinical course and can be difficult to distinguish from ...

The live-born full siblings of 121 presumptive carriers of Rett syndrome belonging to eight pedigrees were examined as to sex ratio at birth. A total of 394 such siblings born in the period 1757-1966 were identified. 183 (46.4%) of them were male and 211 (53.6%) female, i.e., significantly fewer than ...

A male patient presented with tricyclic induced hypomania after treatment for chronic depression. On follow up the patient deteriorated towards dementia with multifocal leucoencephalopathy. The possible role of brain lesions in the causation of affective syndromes and the neurobiological hypothesis of bipolar syndromes are discussed. The authors propose that chronic ...

Few studies have examined the extent to which functional hand-use may be taught to girls with Rett syndrome after those skills have been lost. In this investigation, five females with classic Rett syndrome were taught to feed themselves using a method of prompting and reinforcement. All patients demonstrated improvements in ...

Rev. ed. of: Illustrated dictionari of eponymic syndromes and diseases and their synonyms. c1969

Rett syndrome and infantile autism share the common symptom of autism, especially in the early stages of the disorders. In the later development of Rett syndrome autism sometimes becomes less prominent and there may also be clear differences as regards the quality of autistic behaviour in Rett syndrome and infantile ...

Proreal lesions were made in dogs trained on different forms of delayed alternation (involving either a single or two tones), spatial reversal, and go left-go right task. Proreal animals were impaired on a variety of delayed alternation tasks. On the basis of two additional spatial tests (with and without delay) ...