Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 18-year-old woman without previously documented medical history delivered a healthy 32-week-old preterm infant. Severe bleeding occurred during week 1 postpartum secondary to ruptured vaginal condylomas. The consequent anemia was accompanied by complaints of exercise intolerance that resolved with blood transfusion. Six weeks later, the patient was brought to the emergency department of the regional medical center, where she was found to be unresponsive, with a left-sided hemiparesis and with hypoxemia that failed to correct with assisted ventilation and 100% oxygen. A cardiology consultation was obtained, which identified the patient as having central cyanosis and heretofore unappreciated marked clubbing of fingers and toes. This suggested a diagnosis of right-to-left shunting, likely at the cardiac level, together with presumptive embolic stroke, which was documented by magnetic resonance imaging and magnetic resonance angiography as a left pontine infarct. Transthoracic and transesophageal echocardiography identified anomalous drainage of the inferior vena cava into the left atrium, which was confirmed by a three-dimensional computed tomographic angiogram. Corrective surgery in the form of atrial septostomy and redirection of the inferior vena cava to the right atrium was performed. The patient was subsequently discharged and is in stable condition 3 months later without effort intolerance and with normal arterial oxygen saturation on room air.
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PMID:Central cyanosis and clubbing in an 18-year-old postpartum woman presenting with a stroke. 1576 23

Hemoglobin Chico is a rare hemoglobinopathy characterized by low oxygen affinity and a right-shifted oxygen dissociation curve. Detailed clinical evaluations of affected individuals have not been previously reported. We therefore report on the clinical features of Hemoglobin Chico in a Latino male living at high altitude, who desired to participate in school sports. As a young boy with asthma, he had the unusual finding of growth delay and digital clubbing which improved with asthma control. At 16 years of age, he had mild anemia and a decreased pulse oximetry (83%) but sufficient pulmonary reserve to participate in physically demanding activities.
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PMID:Clinical manifestations of hemoglobin Chico at high altitude. 1711 66

Primary hypertrophic osteoarthropathy or pachydermoperiostosis is a rare congenital disease characterized by clubbing of the fingers, periostitis of the distal long bones, and hypertrophic skin changes (pachydermia) including thick folds in the skin of the face, forehead, scalp and extremities, and also joint pain. Clinical manifestations of this disease generally appear among the young and middle-aged. In this article we report a case of a 43-year-old man with pachydermoperiostosis. His skin and joint manifestations were prominent. He had also anemia, and bone marrow biopsy showed myelofibrosis.
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PMID:Primary hypertrophic osteoarthropathy with myelofibrosis. 1850 83

Primary hypertrophic osteoarthropathy (HOA), or pachydermoperiostosis, is a rare benign disorder of unknown etiology. It is characterized by clubbing, periosteal reaction, and thickening of the skin. Disease usually progresses slowly, and natural arrest may occur. Reported herein is the case of a 28-year-old male patient with progressively increasing swelling of large joints of lower limbs with severe anemia. He was diagnosed as a case of pachydermoperiostosis with myelofibrosis, which is a rare association. The development of myelofibrosis makes primary HOA a disease with unfavorable outcome.
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PMID:Unusual associations of pachydermoperiostosis: a case report. 1831 34

The polyopisthocotylean Sparicotyle chrysophrii (Van Beneden et Hesse, 1863) was experimentally transmitted to gilthead seabream (Sparus aurata L.) by exposure to eggs (EGT) and by cohabitation with naturally parasitized fish (CT). In EGT trials, the infection was successfully transmitted by introducing containers with monogenean eggs in the fish tanks, with the highest infection level (85.7% prevalence, 3.3 mean intensity) achieved at 6 weeks post exposure (p.e.) to the infection dose of 650 eggs per tank. In CT trials, the progression of the infection was faster and reached higher levels than in EGT. When using small fish juveniles (30 g) (CT-2), infection reached 100% prevalence (mean intensity 8 monogeneans/fish) at 5 weeks p.e., but no eggs could be found in the fish even 10 weeks p.e. By contrast, when larger juveniles (150 g) were used (CT-1), infection levels were lower, but mature adults with eggs were detected starting from 8 weeks p.e. The effect of the parasite on the condition factor, haematocrit, haemoglobin concentration (Hb), red blood cell counts, mean corpuscular haemoglobin concentration (MCHC), mean corpuscular haemoglobin content (MCH) and mean cellular volume (MCV) of infected fish was studied in CT trials. The infection produced hypochromic anaemia, since Hb concentration significantly decreased at 5 and 10 weeks p.e. in CT-2 and at 8 weeks p.e. in CT-1. MCHC was significantly lower in parasitized than in control fish at 5 and 8 weeks p.e. in CT-2 and CT-1, respectively. Also in CT-1, MCH was lower and circulating immature erythrocytes, granulocytes and plasma cells were higher in infected fish than in control ones at 8 weeks p.e. The histopathological effects of the monogenean on the gills of naturally infected fish consisted of lamellar shortening, clubbing and synechiae. The proliferation of the epithelial tissue produced fusion of secondary lamellae, and abundant chloride cells were observed.
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PMID:Experimental transmission of Sparicotyle chrysophrii (Monogenea: Polyopisthocotylea) to gilthead seabream (Sparus aurata) and histopathology of the infection. 1960 89

A case of pachydermoperiostosis presented to us in rheumatology clinic with complaints of pain and swelling in knee joints unresponsive to treatment, characteristic facial features, grade four clubbing of nails and broadening of distal parts of extremities. He also complained of fatiguability which was due to anemia. The natural history of the disease was reviewed and investigated.
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PMID:Pachydermoperiostosis with myelofibrosis and empty sella. 2104 85

Idiopathic pulmonary hemosiderosis (IPH) is a rare disorder (triad of iron-deficiency anemia, hemoptysis, and alveolar infiltrates). A 3-year-old male presented with mild fever, breathlessness, dry cough, and bluish nail discoloration for 8 days. He had required five blood transfusions in the past 1 year (last transfusion was given 4 months ago). He had a respiratory rate of 58/min with respiratory distress, cyanosis, and grade III clubbing. Respiratory system examination was normal. Several previous reports of hemoglobin were as low as 3.6 g/dl with hypochromic and microcytic anemia. There were transient increases in the hemoglobin and normalization of red cell morphology with blood transfusions. Serum iron, G6PD enzyme assay, hemoglobin electrophoresis, the sickling test, Coomb's test, stool and urine analysis, and a Meckel's scan were normal. HIV antibody and dsDNA were negative. The chest radiograph revealed symmetrical patchy infiltrates sparing lung apices (confirmed on high-resolution computed tomography). Lung biopsy diagnosed pulmonary hemosiderosis (interstitial lung disease with hemosiderin-laden macrophages scattered in the alveoli and areas of fibrosis in the alveolar septa). The patient showed marked clinical improvement in 10 days of therapy with prednisolone. IPH should be listed in the differential diagnosis of a child presenting with unexplained hypochromic, microcytic anemia and respiratory symptoms.
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PMID:Idiopathic pulmonary hemosiderosis: alveoli are an answer to anemia. 2120 22

We report a case of a three-and-a-half-year-old boy, who presented with poor general condition, stunted growth, had the presence of nail clubbing, persistent cough and frequent diarrhoea. Persistent iron deficiency anaemia without signs of haemolysis suggested Lane-Hamilton syndrome (LHS) which is or/is an extremely rare combination of idiopathic pulmonary haemosiderosis (IPH) and celiac disease (CD), although both diseases are immunologically mediated and the pathogenetic link between them is not clear. We have now 3 years of follow-up on gluten-free diet (GFD), resulting in a gradual recovery of the abnormal laboratory results in combination with an improving growth. Clinically, he is asymptomatic without any additional treatment. Our case illustrates that CD should be specifically looked for in patients with IPH, especially those in whom the severity of anaemia is disproportionate to the IPH symptoms. Both diseases may benefit from a GFD.
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PMID:Lane-Hamilton syndrome: case report and review of the literature. 2194 19

Pachydermoperiostosis (PDP) is the primary form of hypertrophic osteoarthropathy. It is a very rare disease consisting of pachydermia, digital clubbing and radiologic periostosis. Various digestive symptoms in PDP are seen in 11-49% of patients and juvenile polyps may be found at gastric endoscopy. We report here the history of a patient with PDP who was referred for assessment of severe anemia. Endoscopy of the upper digestive tract showed multiple polyps of the stomach with two huge lesions exhibiting foci of high-grade dysplasia. This observation suggests that PDP can be considered as a precancerous condition of the stomach and systematic screening using endoscopy should be considered in these patients.
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PMID:Gastric juvenile polyposis with high-grade dysplasia in pachydermoperiostosis. 2208 81

A young boy of 17 years presented with arthalgia and arthritis of multiple joints unresponsive to treatment, generalized clubbing and enlargement of distal part of the extremities for 5 years and hyperhidrosis for 3 years. On examination, thickening of the facial skin and seborrhoea were found associated with acne. The patient has a Marfanoid appearance with column like legs and spade like fingers. There was no evidence of cutis vertices gyrata. Mild anaemia was present and vital signs were within normal limits. Examination of the musculoskeletal system revealed pain and swelling of the knee, ankle, elbow, wrist and proximal & distal interphalangeal joints. The spine and gait were normal. Radiographs of the limbs revealed subperiosteal new bone formation. The patient was diagnosed as a case of the autosomal dominant disorder, Primary Hypertrophic Osteoarthropathy or Pachydermoperiostosis.
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PMID:A primary hypertrophic osteoarthropathy or pachydermoperiostosis. 2282 62


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