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排序方式: 共有992条查询结果,搜索用时 78 毫秒
21.
Takuya Takeichi Arti Nanda Lu Liu Amr Salam Patrick Campbell Kenneth Fong Masashi Akiyama Linda Ozoemena Kristina L. Stone Hejab Al‐Ajmi Michael A. Simpson John A. McGrath 《Experimental dermatology》2013,22(12):825-831
Individuals with inherited skin diseases often pose one of the most difficult diagnostic challenges in dermatology. The hunt for the underlying molecular pathology may involve candidate gene screening or linkage analysis, which is usually determined by the initial history, the physical findings and laboratory tests. Recent technical advances in DNA sequencing, however, are shifting the diagnostic paradigm. Notably, next‐generation sequencing allows a more comprehensive approach to diagnosing inherited diseases, with potential savings of both time and money. In the setting of a paediatric dermatology genetics clinic in Kuwait, we therefore performed whole‐exome sequencing on seven individuals without a priori detailed knowledge of the patients’ disorders: from these sequencing data, we diagnosed X‐linked hypohidrotic ectodermal dysplasia (two cases), acrodermatitis enteropathica, recessive erythropoietic protoporphyria (two siblings) and localized recessive dystrophic epidermolysis bullosa (two siblings). All these groups of disorders are clinically and genetically heterogeneous, but the sequencing data proved inherently useful in improving patient care and avoiding unnecessary investigations. Our observations highlight the value of whole‐exome sequencing, in combination with robust bioinformatics analysis, in determining the precise molecular pathology and clinical diagnosis in patients with genetic skin disorders, notably at an early stage in the clinical evaluation of these often complex disorders and thereby support a new paradigm for future diagnostics. 相似文献
22.
S. Salam F. Z. Elatiqi B. Yousri S. Zamiati 《Journal africain du cancer / African Journal of Cancer》2014,6(4):240-243
The synovial sarcoma is a rare and aggressive tumor of soft tissues representing 7–8% of malignant sarcoma in humans. The upper and lower limbs are most affected, particularly the para-articular regions of the large joints. Despite its name, synovial sarcoma does not arise from the synovial membrane but rather from primitive mesenchymal cells. We report a case of synovial sarcoma of the foot occurred in 9-year-old girl and we recall the radiological signs that suggest the diagnosis. 相似文献
23.
Kouriba B Traore HA Dabo A Sangare L Guindo H Keita AS Reimert CM van Dam GJ Deelder AM Doumbo O Dessein AJ 《The Journal of infectious diseases》2005,192(12):2152-2159
BACKGROUND: Schistosoma haematobium infection causes severe urinary disease and considerable mortality. The factors that determine disease progression from mild to severe stages are not fully understood. METHODS: Here we describe a cross-sectional epidemiological study of kidney and bladder diseases in 2 Dogon populations with different exposure to S. haematobium infection. RESULTS: Early and high exposure resulted in more-severe disease, especially among young subjects, without clear evidence of a more-rapid development of immunity. Nevertheless, 50%-60% of subjects of all age classes in both villages showed no evidence of disease. Kidney and bladder disease peaked biphasically among young subjects and adults >25 years old. The first peak corresponded with infections of maximum intensity, whereas the second peak occurred among adults with infections of very low intensity. Kidney disease was correlated with circulating anodic antigen concentration in serum, whereas bladder disease was correlated with egg count and eosinophil cationic protein concentration in urine. Kidney and bladder disease did not correlate. Severe kidney disease was more frequent in certain families. CONCLUSIONS: The frequency of urinary disease is increased by infections acquired early during life, is regulated by strong clinical immunity in certain subjects, and may be dependent on hereditary factors. Kidney and bladder disease may involve different mechanisms of pathogenesis, which may differ between children and adults. 相似文献
24.
Salam AM 《Asian cardiovascular & thoracic annals》2005,13(2):175-177
Acute myocardial infarction rarely occurs in women during pregnancy. However, when it does occur, it usually carries a high risk of maternal and perinatal mortality. There is a lack of awareness that this condition can occur in pregnancy since coronary artery disease is uncommon in women of childbearing age. In this report, a 43-year-old lady with acute anterior myocardial infarction in her eighth week of pregnancy is presented. The challenges involved in diagnosing this condition in pregnancy are briefly discussed. 相似文献
25.
Local production of anti-vibrio cholerae mucosal antibody in reproductive tract tissues after cholera 总被引:4,自引:0,他引:4
Ryan ET Bridges EA Crean TI Gausia K Hamadani JD Aziz A Hawkes S Begum M Bogaerts J Faruque SM Salam MA Fuchs GJ Calderwood SB 《The Journal of infectious diseases》2001,184(5):643-647
To investigate whether intestinal presentation of an antigen by Vibrio cholerae, a noninvasive organism, could induce an anatomically distant mucosal immune response in reproductive tract tissues, the endocervical immune responses of women in Bangladesh were evaluated after cholera. Endocervical secretions were analyzed for secretory IgA (sIgA) antibody against the B subunit of cholera toxin (CtxB) in 9 women with cholera and 8 women with diarrhea caused by neither V. cholerae nor heat labile enterotoxin-producing Escherichia coli. Women infected with V. cholerae developed significant sIgA anti-CtxB responses in endocervical samples (P< or =.02). Antibody subtype analysis of endocervical IgA was consistent with local mucosal production (P< or =.001). Women with cholera did not develop sIgA anti-CtxB responses in serum. The ability to generate specific mucosal immune responses in reproductive tract tissues after intestinal presentation of antigen could facilitate development of vaccines effective against reproductive tract pathogens. 相似文献
26.
27.
Infarction of prolactin-secreting or growth hormone-secreting pituitary adenomas is not unusual. However, Infarction of ACTH-secreting
adenomas has rarely been reported. Cyclical course of Cushing's syndrome alternating with adrenal insufficiency due to recurrent
infarction of an ACTH-secreting pituitary adenoma has not been reported. We report here a 20-year-old lady who presented with
florid signs of Cushing's syndrome but was found to have adrenal insufficiency on biochemical evaluation. Magnetic resonance
imaging (MRI) of the pituitary gland showed that she had infarction of an ACTH-secreting macroadenoma. Over the next 6 years,
her disease ran a cyclical course characterized by periods of hypercortisolism alternating with adrenal insufficiency due
to repeated episodes of infarctions of the ACTH-secreting pituitary macroadenoma with corresponding changes in the pituitary
adenoma on serial MRIs. The case alerts clinicians to this possibility when a patient presents with clinical picture of Cushing's
syndrome but has adrenal insufficiency on biochemical testing. It also suggests that silent or subclinical infarction of pituitary
adenomas is not uncommon and is probably under diagnosed. 相似文献
28.
Salamé E Osta H Antonios S Abdel-Massih T Gerbaka B Kassab R 《Annales de cardiologie et d'angeiologie》2005,54(5):292-295
Chaotic atrial tachycardia is a rare arrhythmia that has no known etiology and that usually inflicts upon newborn infants. The diagnosis is established using the surface electrocardiogram (ECG) which shows a spectacular polymorphism and irregularity of the atrial electrical activity. Clinical tolerability is variable depending on the ventricular rhythm. Cases that are not well tolerated and cases who do not recover spontaneously require medical treatment which relies mainly on amiodarone and other class IC anti-arrhythmic drugs. There is usually complete recovery during the first few months of life. The authors present the case of a female patient who was diagnosed with chaotic atrial tachycardia with induced cardiomyopathy following birth. She was successfully treated with amiodarone but had several relapses of the arrhythmia upon discontinuation of the drug. Although this observation is classic in its presentation, we consider that it is useful to remember this rare and frequently forgotten syndrome and to report the unique and particular aspects of our case and its evolution. 相似文献
29.
Veldtman Gruschen Possner Mathias Mohty Dania Issa Ziyad Alsaleh Monerah AlMarzoog AlJuhara Thaar Emmanual Shisamma Salam Yezan AlHabdan Mohammed Saleh Alsaied Tarek Rathod Rahul H. Siblini Ghassan Vriz Olga 《The international journal of cardiovascular imaging》2021,37(9):2651-2660
The International Journal of Cardiovascular Imaging - Abnormal atrial mechanics in biventricular circulations have been associated with elevated left heart filling pressures. Similar associations... 相似文献