Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A variety of neurological complications occur with sickle cell hemoglobinopathy. The most striking and most common is cerebral infarction. It is also the most devastating. Because of the high recurrence rate in untreated patients, cerebral infarction is the most debilitating neurological complication. The observed frequency varies from 6% to as high as 34% in different reports. The pathogenesis, clinical features, and demography are discussed. Diagnostic procedures should include a spinal tap to rule out potentially treatable lesions. CT scan and cerebral angiography may also be helpful in certain cases. Transfusion therapy remains the mainstay of management in the acute phase of cerebral infarction. There is considerable evidence to indicate that long-term transfusion programs are effective in the prevention of recurrences. Intracranial hemorrhage, spinal cord infarction, isolated neuropathies due to anatomical proximity to infarcted bones, lead neuropathy, auditory problems, and ocular manifestations are other neurological problems which can affect patients with sickle cell disease.
 ...
PMID:Neurological complications of sickle cell anemia. 716 88

Chronic cutaneous ulcers are commonplace in the developing world, especially in rural areas with poor living conditions and often result from the trauma of road-traffic injuries. Chronic cutaneous ulcers may also be due to vascular insufficiency, neuropathy, nodular leprosy, pressure, diabetes, or hemoglobinopathies, or they may be tropical ulcers. If poorly managed, these lesions may undergo malignant transformation. We evaluated the clinical histories and treatment outcomes of patients seen at the University of Calabar Teaching Hospital, between January 2000 and December 2004, who had histologic diagnosis of Marjolin's ulcer, in an attempt to identify risk factors for this problem. The six patients were men, age 30-70 years (mean, 42 years). Trauma was the leading cause of injury leading to ulceration: road-traffic accidents (four patients, 66.7%), fall (one patient, 16.7%), and flame burn (one patient, 16.7%). Most injuries involved the limbs: lower (four patients, 66.7%) and upper (one patient, 16.7%). The histologic diagnosis in all the cases were squamous cell carcinoma and mean latency period from injury to diagnosis of malignancy was 18.5 years. All the patients had been admitted because of poor results from topical treatment. Three patients (50%) were managed with wide excision and skin grafting with the lesions healed. Ignorance as well as economic and sociocultural factors were the underlying issues. Education concerning the risks associated with chronic wounds and the need for prompt and proper surgical management are recommended.
 ...
PMID:Marjolin's ulcer: the importance of surgical management of chronic cutaneous ulcers. 1795 27

In humans, 9 members of the transglutaminase (TG) family have been identified, of which 8 [factor XIII (FXIII)A and TG1-TG7] catalyze post-translational protein-modifying reactions, and 1 does not (protein 4.2). The TG enzymatic activities considered in our discussion of human disease include deamidation of glutamine (Gln) residues, amine incorporation into Gln residues, and protein crosslinking. Except for TG7, which remains poorly studied, all individual TG members have been correlated with disparate human diseases that arise from either TG function or lack of function. Loss of TG function is associated with numerous orphan diseases that affect a relatively small number of individuals: loss of FXIIIa (transamidase-activated form) crosslinking leads to defects in blood coagulation in FXIII deficiency; loss of TG1 and TG5 cross linking leads to defects in epidermal cornification in lamellar ichthyosis and acral peeling skin syndrome, respectively; loss of TG3 crosslinking in hair-cuticle formation leads to uncombable hair syndrome; the predicted loss of TG6 crosslinking leads to spinocerebellar ataxia-35; and loss of the structural erythrocyte membrane protein, protein 4.2, leads to hereditary spherocytosis type 5. The enzymatic activity of TG2 is involved in the exacerbation of celiac disease and in at least 1 case of hemoglobinopathy, characterized by shortened erythrocyte lifespan. TGs are also autoantigens in a number of immune diseases, resulting in the production of autoantibodies against FXIIIa in acquired FXIII deficiency, TG2 in celiac disease, TG3 in dermatitis herpetiformis, TG4 in autoimmume polyglandular syndrome type 1, and TG6 in gluten axonal neuropathy and gluten ataxia. Much still remains to be learned and confirmed with respect to disease mechanisms, particularly with respect to TG-related immune diseases, in which development of isozyme-specific inhibitors may be useful for treatment.-Lorand, L., Iismaa, S. E. Transglutaminase diseases: from biochemistry to the bedside.
 ...
PMID:Transglutaminase diseases: from biochemistry to the bedside. 3081 25