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Proceedings of the Royal Society of... Aug 1973
Topics: Blood Coagulation Disorders; Blood Viscosity; Capillaries; Cold Temperature; Cyanosis; Extremities; Frostbite; Humans; Microcirculation; Skin; Veins
PubMed: 4733957
DOI: No ID Found -
Frontiers in Endocrinology 2022Hypoglycemia is uncommon in people who are not being treated for diabetes mellitus and, when present, the differential diagnosis is broad. Artifactual hypoglycemia...
BACKGROUND
Hypoglycemia is uncommon in people who are not being treated for diabetes mellitus and, when present, the differential diagnosis is broad. Artifactual hypoglycemia describes discrepancy between low capillary and normal plasma glucose levels regardless of symptoms and should be considered in patients with Raynaud's phenomenon.
CASE PRESENTATION
A 46-year-old female patient with a history of a sleeve gastrectomy started complaining about episodes of lipothymias preceded by sweating, nausea, and dizziness. During one of these episodes, a capillary blood glucose was obtained with a value of 24 mg/dl. She had multiple emergency admissions with low-capillary glycemia. An exhaustive investigation for possible causes of hypoglycemia was made for 18 months. The 72h fasting test was negative for hypoglycemia. A Raynaud's phenomenon was identified during one appointment.
CONCLUSION
Artifactual hypoglycemia has been described in various conditions including Raynaud's phenomenon, peripheral arterial disease, Eisenmenger syndrome, acrocyanosis, or hypothermia. With this case report, we want to reinforce the importance of being aware of this diagnosis to prevent anxiety, unnecessary treatment, and diagnostic tests.
Topics: Awareness; Blood Glucose; Diabetes Mellitus; Female; Humans; Hypoglycemia; Memory Disorders; Middle Aged
PubMed: 35966055
DOI: 10.3389/fendo.2022.951377 -
Pediatric Rheumatology Online Journal Jul 2011Raynaud's phenomenon (RP) is an extremely unusual finding in early infancy. In the present report we describe a one-month-old previously healthy male infant who...
Raynaud's phenomenon (RP) is an extremely unusual finding in early infancy. In the present report we describe a one-month-old previously healthy male infant who presented with unilateral acrocyanosis. Although infantile acrocyanosis is known to be a benign and self-resolving condition, it is generally bilateral and symmetric. The unilateral nature of the acrocyanosis was an atypical finding in this infant. Consequently, he was closely monitored to evaluate the progression of his acrocyanosis. Based on his benign clinical course and failure to demonstrate other etiologies contributing to his acrocyanosis, he was diagnosed to have primary RP. Due to the rarity of RP in children, we review the progress in understanding the pathophysiology, epidemiology and management of RP and additionally discuss the differential diagnosis of unilateral and bilateral acrocyanosis in infants.
PubMed: 21767369
DOI: 10.1186/1546-0096-9-16 -
Zhongguo Dang Dai Er Ke Za Zhi =... Mar 2021A girl, aged 15 years, was admitted due to sudden convulsion once and multiple pulmonary nodules on lung CT. Acrocyanosis or acropachy/toe deformity was not observed....
A girl, aged 15 years, was admitted due to sudden convulsion once and multiple pulmonary nodules on lung CT. Acrocyanosis or acropachy/toe deformity was not observed. Laboratory examinations showed an increase in hemoglobin (162 g/L) and a reduction in arterial partial pressure of oxygen (61.5 mm Hg). Lung CT showed irregular slightly high-density nodules in the middle lobe of the right lung, and contrast-enhanced CT scan showed obvious enhancement with thick vascular shadow locally. An investigation of medical history revealed that the girl's mother had a history of epistaxis and resection of pulmonary mass and the girl presented with tongue telangiectasia. The girl was diagnosed with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformation. she was given interventional embolization therapy. Transcutaneous oxygen saturation reached 98% without oxygen inhalation on the day after surgery. Pulmonary angiography at 3 months after surgery showed the recurrence of pulmonary vascular malformation, and embolization of pulmonary arterial fistula was not performed since the guide wire could not enter the branch artery. There was still a need for long-term follow-up.
Topics: Adolescent; Arteriovenous Fistula; Arteriovenous Malformations; Female; Humans; Multiple Pulmonary Nodules; Neoplasm Recurrence, Local; Pulmonary Artery; Seizures
PubMed: 33691924
DOI: 10.7499/j.issn.1008-8830.2010094 -
Emergencias : Revista de La Sociedad... Jun 2016
Topics: Aged, 80 and over; Cyanosis; Diagnostic Errors; Female; Fingers; Humans; Hypoglycemia
PubMed: 29105461
DOI: No ID Found -
Clinical Autonomic Research : Official... Dec 2021In neuropathic postural tachycardia syndrome, peripheral sympathetic dysfunction leads to excessive venous blood pooling during orthostasis. Up to 84% of patients report...
PURPOSE
In neuropathic postural tachycardia syndrome, peripheral sympathetic dysfunction leads to excessive venous blood pooling during orthostasis. Up to 84% of patients report leg pain and weakness in the upright position. To explore possible pathophysiological processes underlying these symptoms, the present study examined muscle excitability depending on body position in patients with neuropathic postural tachycardia syndrome and healthy subjects.
METHODS
In ten patients with neuropathic postural tachycardia syndrome and ten healthy subjects, muscle excitability measurements were performed repeatedly: in the supine position, during 10 min of head-up tilt and during 6 min thereafter. Additionally, lower leg circumference was measured and subjective leg pain levels were assessed.
RESULTS
In patients with neuropathic postural tachycardia syndrome, muscle excitability was increased in the supine position, decreased progressively during tilt, continued to decrease after being returned to the supine position, and did not completely recover to baseline values after 6 min of supine rest. The reduction in muscle excitability during tilt was paralleled by an increase in lower leg circumference as well as leg pain levels. No such changes were observed in healthy subjects.
CONCLUSIONS
This study provides evidence for the occurrence of orthostatic changes in muscle excitability in patients with neuropathic postural tachycardia syndrome and that these may be associated with inadequate perfusion of the lower extremities. Insufficient perfusion as a consequence of blood stasis may cause misery perfusion of the muscles, which could explain the occurrence of orthostatic leg pain in neuropathic postural tachycardia syndrome.
Topics: Heart Rate; Humans; Leg; Muscles; Pain; Postural Orthostatic Tachycardia Syndrome; Tachycardia; Tilt-Table Test
PubMed: 34674068
DOI: 10.1007/s10286-021-00830-5 -
Clinical Case Reports Dec 2020Acrocyanosis and digital necrosis, which caused by microangiopathic and immunothrombosis phenomenon, may accompanied by microvascular involvement of other organs....
Acrocyanosis and digital necrosis, which caused by microangiopathic and immunothrombosis phenomenon, may accompanied by microvascular involvement of other organs. Therefore, this finding can play a prognostic role in covid-19 outcome.
PubMed: 33363819
DOI: 10.1002/ccr3.3276 -
American Journal of Medical Genetics.... Jun 2019Ethylmalonic encephalopathy (EE) is a rapidly progressive autosomal recessive mitochondrial disease caused by biallelic pathogenic variants in the ETHE1 gene that...
Ethylmalonic encephalopathy (EE) is a rapidly progressive autosomal recessive mitochondrial disease caused by biallelic pathogenic variants in the ETHE1 gene that encodes the mitochondrial sulfur dioxygenase. It is characterized by neurodevelopmental delay and regression, pyramidal and extrapyramidal signs, recurrent petechiae, chronic diarrhea, and orthostatic acrocyanosis. Laboratory findings include elevated serum levels of lactate and C4-C5 acylcarnitines, and elevated urinary excretion of ethylmalonic acid and C4-C6 acylglycines, notably isobutyrylglycine and 2-methylbutyrylglycine. These findings are attributed to deficiency of the mitochondrial sulfur dioxygenase resulting in toxic accumulation of hydrogen sulfide metabolites in vascular endothelium and mucosal cells of the large intestine. Medical management has thus far been directed toward decreasing the accumulation of hydrogen sulfide metabolites using a combination of metronidazole and N-acetylcysteine. More recently, orthotopic liver transplant (OLT) has been reported as a new therapeutic option for EE. Here, we report two additional cases of EE who achieved psychomotor developmental improvement after 7- and 22-months following OLT. The second case serves as the longest developmental outcome follow-up reported, thus far, following OLT for EE. This report provides additional evidence to validate OLT as a promising therapeutic approach for what was considered to be a fatal disease.
Topics: Biomarkers; Brain Diseases, Metabolic, Inborn; Consanguinity; Female; Humans; Infant; Liver Transplantation; Magnetic Resonance Imaging; Male; Mitochondrial Proteins; Mutation; Nucleocytoplasmic Transport Proteins; Phenotype; Purpura; Treatment Outcome
PubMed: 30864297
DOI: 10.1002/ajmg.a.61104 -
Journal of Cardiology Cases Feb 2017Cold agglutinin disease (CAD) is a form of autoimmune hemolytic anemia caused by cold-reacting autoantibodies. The manifestations of CAD are commonly anemia,...
Cold agglutinin disease (CAD) is a form of autoimmune hemolytic anemia caused by cold-reacting autoantibodies. The manifestations of CAD are commonly anemia, acrocyanosis, and fatigue caused by hemolysis and agglutination of red blood cells (RBCs) at a temperature lower than normal body temperature. We report a case of CAD presenting with pulmonary embolisms in an 86-year-old man. The patient visited our emergency department complaining of acute chest pain and respiratory distress. Laboratory data showed decreased RBC and hematocrit and markedly elevated mean corpuscular hemoglobin (MCH) and MCH concentration (MCHC). A contrast-enhanced computed tomographic scan demonstrated bilateral massive pulmonary embolisms. After admission, diagnosis of CAD was made on the basis of a high cold agglutinin titer without other factors of coagulation. CAD can contribute to the onset of pulmonary embolisms. It is necessary to incubate blood samples at 37 °C when laboratory data show markedly elevated MCH and MCHC and to consider the presence of cold agglutinins as an underlying disorder for the formation of venous thrombosis. < Cold agglutinin disease can contribute to the onset of pulmonary embolisms. It is necessary to incubate blood samples at 37 °C when laboratory data showed markedly elevated mean corpuscular hemoglobin (MCH) and MCH concentration (MCHC) and to consider the presence of cold agglutinins as an underlying disorder for the formation of venous thrombosis. Complete blood count including MCH and MCHC is always ordered, but we may have overlooked the meaning of abnormal results. We must be aware of these parameters and carefully examine the underlying mechanisms of thrombosis.>.
PubMed: 30546693
DOI: 10.1016/j.jccase.2016.10.005 -
Clinical Case Reports Apr 2016Cold agglutinin disease arising in the context of chronic lymphocytic leukemia can misdiagnose a warm autoimmune hemolytic anemia.
Cold agglutinin disease arising in the context of chronic lymphocytic leukemia can misdiagnose a warm autoimmune hemolytic anemia.
PubMed: 27099738
DOI: 10.1002/ccr3.529