-
Annals of the Rheumatic Diseases Oct 1990A pure sensory neuropathy caused by lymphocytic infiltration of the dorsal root ganglia has been reported in a few patients with Sjögren's syndrome. The clinical,...
A pure sensory neuropathy caused by lymphocytic infiltration of the dorsal root ganglia has been reported in a few patients with Sjögren's syndrome. The clinical, immunological, and electromyographic findings of five patients with this type of neuropathy and primary Sjögren's syndrome were reviewed. Typical clinical indications were the presence of a chronic asymmetrical sensory deficit, initial disease in the hands with a predominant loss of the vibratory and joint position senses, and an association with Adie's pupil syndrome or trigeminal sensory neuropathy. The simultaneous impairment of the central and peripheral evoked cortical potentials suggested that there was a lesion of the neuronal cell body. The neuropathy preceded the diagnosis of Sjögren's syndrome in four patients. Four patients were positive for Ro antibodies, but systemic vasculitis or malignancy was not found after a mean follow up of six years. These findings indicate that in patients with a sensory neuropathy the diagnosis of Sjögren's syndrome has to be considered, even if the patient denies the presence of sicca symptoms, and that appropriate tests must be carried out.
Topics: Adie Syndrome; Adult; Aged; Antibodies, Antinuclear; Cranial Nerve Diseases; Electromyography; Evoked Potentials, Somatosensory; Female; Humans; Male; Middle Aged; Peripheral Nervous System Diseases; Reflex, Stretch; Sjogren's Syndrome; Trigeminal Nerve
PubMed: 2173499
DOI: 10.1136/ard.49.10.775 -
Indian Journal of Dermatology 2016Ross syndrome is a rare dysautonomia characterized by a clinical complex of segmental anhidrosis or hypohidrosis, areflexia, and tonic pupils. A very few cases (≃50)...
Ross syndrome is a rare dysautonomia characterized by a clinical complex of segmental anhidrosis or hypohidrosis, areflexia, and tonic pupils. A very few cases (≃50) have been reported in literature since its original description in 1958. Here, we report the case of a middle-aged homemaker from Odisha, India, who presented with complaints of segmental hypohidrosis for the past 7 years.
PubMed: 27293279
DOI: 10.4103/0019-5154.182472 -
Journal of Neurology, Neurosurgery, and... Nov 1956
Topics: Adie Syndrome; Humans; Pupil
PubMed: 13377196
DOI: 10.1136/jnnp.19.4.289 -
Psychiatry Research Nov 2013Individuals with seasonal affective disorder (SAD) may have a decreased retinal sensitivity in the non-image forming light-input pathway. We examined the post...
Individuals with seasonal affective disorder (SAD) may have a decreased retinal sensitivity in the non-image forming light-input pathway. We examined the post illumination pupil response (PIPR) among individuals with SAD and healthy controls to identify possible differences in the melanopsin signaling pathway. We also investigated whether melanopsin gene (OPN4) variations would predict variability in the PIPR. Fifteen SAD and 15 control participants (80% women, mean age 36.7 years, S.D.=14.5) were assessed in the fall/winter. Participants were diagnosed based on DSM-IV-TR criteria. Infrared pupillometry was used to measure pupil diameter prior to, during, and after red and blue stimuli. In response to blue light, the SAD group had a reduced PIPR and a lower PIPR percent change relative to controls. The PIPR after the blue stimulus also varied on the basis of OPN4 I394T genotype, but not OPN4 P10L genotype. These findings may indicate that individuals with SAD have a less sensitive light input pathway as measured by the PIPR, leading to differences in neurobiological and behavioral responses such as alertness, circadian photoentrainment, and melatonin release. In addition, this sensitivity may vary based on sequence variations in OPN4, although a larger sample and replication is needed.
Topics: Adie Syndrome; Adult; Analysis of Variance; Female; Genotype; Humans; Light; Male; Middle Aged; Polymorphism, Single Nucleotide; Psychiatric Status Rating Scales; Pupil; Reflex, Pupillary; Rod Opsins; Seasonal Affective Disorder; Surveys and Questionnaires; Young Adult
PubMed: 23809464
DOI: 10.1016/j.psychres.2013.05.023 -
The British Journal of Ophthalmology Dec 2007To compare the pupil signs in patients with bilateral pupillotonia caused by Holmes-Adie syndrome or generalised peripheral neuropathy.
AIM
To compare the pupil signs in patients with bilateral pupillotonia caused by Holmes-Adie syndrome or generalised peripheral neuropathy.
METHODS
Infrared video pupillographic techniques were used to measure a number of pupil variables in patients with Holmes-Adie syndrome, generalised neuropathy (various aetiologies) and healthy age-matched control subjects.
RESULTS
Regardless of aetiology, the patients generally had pupil signs typical of pupillotonia (small dark diameters, large light diameters, tonic near responses, attenuated light responses with light-near dissociation, and sector palsy). However, significant differences were found in the prevalence and magnitude of several pupil variables in the two patient groups. In particular, sector palsy and anisocoria exceeding 1 mm (in the light) were seen much more commonly in Holmes-Adie patients than patients with generalised neuropathy. The presence of both these pupil signs can be used to distinguish between these diagnoses with a sensitivity of 58% and a specificity of 90%.
CONCLUSIONS
The tonic pupils of patients with Holmes-Adie syndrome are significantly different to those found in patients with generalised neuropathy; recognition of these differences may allow distinction between these diagnoses.
Topics: Adie Syndrome; Adult; Aged; Anisocoria; Diagnosis, Differential; Female; Humans; Light; Male; Middle Aged; Nervous System Diseases; Prevalence; Pupil; Pupil Disorders; Sensitivity and Specificity; Severity of Illness Index; Tonic Pupil
PubMed: 17584996
DOI: 10.1136/bjo.2007.118968 -
American Journal of Ophthalmology Aug 2005The onset of pantothenate kinase-associated neurodegeneration (PKAN) occurs in the first and second decade of life and a pigmentary retinal degeneration is a feature of...
PURPOSE
The onset of pantothenate kinase-associated neurodegeneration (PKAN) occurs in the first and second decade of life and a pigmentary retinal degeneration is a feature of the disorder. Since the neuro-ophthalmologic and electroretinographic (ERG) features have never been well delineated, we describe them in 16 patients with PKAN.
DESIGN
Observational case series.
METHODS
Sixteen patients with genetic and neuroimaging-confirmed PKAN were examined. Ten underwent neuro-ophthalmologic examination and all had ERGs.
RESULTS
Of the 10 who underwent neuro-ophthalmologic examination, all showed saccadic pursuits and eight showed hypometric or slowed vertical saccades. Seven of eight had inability to suppress the vestibulo-ocular reflex; two patients could not cooperate. Two had square wave jerks and four had poor convergence. Vertical optokinetic responses were abnormal in five, and two patients had blepharospasm. Eight patients had sectoral iris paralysis and partial loss of the pupillary ruff consistent with Adie's pupils in both eyes. Only four of 10 examined patients showed a pigmentary retinopathy, but 11 of 16 had abnormal ERGs ranging from mild cone abnormalities to severe rod-cone dysfunction. No patient had optic atrophy. The PANK2 mutations of all of the patients were heterogeneous.
CONCLUSIONS
Adie's-like pupils, abnormal vertical saccades, and saccadic pursuits were very common. These findings suggest that mid-brain degeneration occurs in PKAN more frequently than previously thought. ERG abnormalities were present in approximately 70% and no patient had optic atrophy. Although genotype-ocular phenotype correlations could not be established, allelic differences probably contributed to the variable clinical expression of retinopathy and other clinical characteristics in these patients.
Topics: Adolescent; Adult; Aged; Brain; Child; DNA Mutational Analysis; Electroretinography; Female; Humans; Magnetic Resonance Imaging; Male; Ocular Motility Disorders; Pantothenate Kinase-Associated Neurodegeneration; Phosphotransferases (Alcohol Group Acceptor); Photoreceptor Cells, Vertebrate; Polymerase Chain Reaction; Retinal Degeneration; Tonic Pupil
PubMed: 16023068
DOI: 10.1016/j.ajo.2005.03.024 -
Journal of Orthopaedic Surgery (Hong... 2020The primary objective of this review was to determine whether tranexamic acid (TXA) reduces transfusion rates in patients undergoing surgery for hip fractures. The... (Meta-Analysis)
Meta-Analysis
AIMS
The primary objective of this review was to determine whether tranexamic acid (TXA) reduces transfusion rates in patients undergoing surgery for hip fractures. The secondary objective was to assess the effects of TXA on mortality and thromboembolic events in the same cohort.
METHODS
A systematic review of electronic databases was performed in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. We included randomized controlled trials comparing perioperative TXA in patients treated surgically for hip/proximal femoral fractures against placebo. The primary outcome was the proportion of patients requiring blood transfusion. Secondary outcomes were blood loss, mortality, and complications. Meta-analysis was performed using inverse variance and random effects model.
RESULTS
The pooled data from 10 studies involving 842 patients showed that the proportion of patients requiring blood transfusion was significantly less in the TXA group (risk ratio (RR) 0.72, 95% confidence interval (CI) 0.59-0.88). There was no difference between TXA and control groups when comparing mortality (RR 1.17, 95% CI 0.65-2.10), deep venous thrombosis (RR 1.14, 95% CI 0.43-3.06), pulmonary embolism (RR 0.53, CI 0.09-3.02), acute coronary syndrome (RR 1.52, CI 0.18-12.98), cerebrovascular events (RR 0.78, CI 0.16-3.68), or wound complications (RR 1.61, CI 0.51-5.13).
CONCLUSION
There is evidence that TXA reduces the proportion of patients requiring blood transfusions when undergoing hip fracture surgery. However, the small sample size and low event rates for adverse effects preclude any definitive conclusions from being established regarding adverse effects. Future trials should be powered to further assess potential complications and determine the ideal dosage and regime.
Topics: Antifibrinolytic Agents; Blood Loss, Surgical; Blood Transfusion; Hip Fractures; Humans; Tranexamic Acid
PubMed: 31835969
DOI: 10.1177/2309499019887995 -
The Turkish Journal of Pediatrics 2019Demirsoy U, Alparslan B, Şen MC, Anık Y, Akansel G, Görür G, Gürel B, Aksu G, Çorapçıoğlu F. More than Ophelia syndrome: Multiple paraneoplastic syndromes in...
Demirsoy U, Alparslan B, Şen MC, Anık Y, Akansel G, Görür G, Gürel B, Aksu G, Çorapçıoğlu F. More than Ophelia syndrome: Multiple paraneoplastic syndromes in pediatric Hodgkin lymphoma. Turk J Pediatr 2019; 61: 139-141. Paraneoplastic syndromes in Hodgkin lymphoma (HL) can be seen with different symptoms and organ findings within a significant time before definite diagnosis of the primary disease. Achalasia, Holmes-Adie pupil, and limbic encephalitis are rarely reported paraneoplastic components in pediatric HL. In this report, we present an 11-year-old girl who had all these three paraneoplastic components synchronously before HL was identified.
Topics: Adie Syndrome; Child; Esophageal Achalasia; Female; Hodgkin Disease; Humans; Limbic Encephalitis; Paraneoplastic Syndromes
PubMed: 31559737
DOI: 10.24953/turkjped.2019.01.024 -
Journal of Korean Medical Science Apr 2005Harlequin syndrome is characterized by unilateral hyperhidrosis and flushing, which are predominantly induced by heat or exercise. Usually, the sympathetic deficits...
Harlequin syndrome is characterized by unilateral hyperhidrosis and flushing, which are predominantly induced by heat or exercise. Usually, the sympathetic deficits confine to the face. Rarely, the autonomic deficits involve the arm or the parasympathetic neurons in the ciliary ganglia. We report a 43-yr-old woman who presented with facial flushing and sweating in the right side, which were mainly induced by exercise. The facial flushing accompanied relative coldness in the right arm. Valsalva maneuver, cold pressure and 0.125% pilocarpine test, and computed tomography of the chest were normal. The crossed sympathetic deficit in the left face and right arm suggested that the lesions were multifocal. The sympathetic impairment in our patient may lie on a spectrum of pre- and postganglionic autonomic dysfunction, which was observed in Holmes-Adie, Ross, and Guillain-Barre syndromé.
Topics: Adult; Arm; Autonomic Nervous System Diseases; Face; Female; Flushing; Humans; Sweating; Syndrome
PubMed: 15832011
DOI: 10.3346/jkms.2005.20.2.329 -
Neurology Sep 2012
Topics: Adie Syndrome; Adult; Female; Humans
PubMed: 22965679
DOI: 10.1212/WNL.0b013e3182698cc5