ABSTRACT
Deletion of the long arm of chromosome 16 is uncommon. The causes of deletion are two: one is unbalanced translocation and the other is de novo deletion. In our case, a baby was born with characteristics of the deletion of the long arm of chromosome 16: distinct craniofacial dysmorphism, mild hydrocephalus, ventriculoseptal defect, coarctation of aorta, short neck, low set, small and posterially rotated ears and shortening of long bones. High resolution GTG and RBG banding analyses revealed a karyotype: 46, XY, del(16)(q13q22) de novo.
Subject(s)
Aortic Coarctation , Arm , Chromosomes, Human, Pair 16 , Ear , Hydrocephalus , Karyotype , NeckABSTRACT
Primary Sjogren's syndrome is a chronic autoimmune disorder characterized by xerostomia and keratoconjunctivitis sicca result from lymphocytic infiltrations of salivary and lacrimal glands.It may accompany by the wide spectrums of extraglandular symptoms,such as musculoskeletal,pulmonary,renal,intestinal,hematologic,and nervous system.However,overt cardiac manifestations are very rare and are documented only a few cases sporadically. We report a patient with primary Sjogren's syndrome who developed reversible congestive heart failure as part of a myocarditis.A 39-year-old woman with primary Sjogren's syndrome developed fatigue,dyspnea,and abdominal discomfort.An echocardiography revealed global hypokinetic left ventricle with markedly decreased ejection fraction (EF=39%),abnormal restrictive filling pattern,secondary tricuspid valve insufficiency and no pericardial effusion or thickening.A myocardial biopsy disclosed myocardial degeneration with lymphocyte infiltration.Following treatment with digitalis,diuretics,ACE inhibitor and corticosteroid,the symptoms of congestive heart failure improved.A repeat echocardiography showed an improved ventricular contractility and recovered both diastolic (normalized E/A ratio)and systolic (EF=50%)functions.
Subject(s)
Adult , Female , Humans , Biopsy , Echocardiography , Heart Failure , Heart Ventricles , Keratoconjunctivitis Sicca , Lymphocytes , Myocarditis , Pericardial Effusion , Sjogren's Syndrome , Tricuspid Valve Insufficiency , XerostomiaABSTRACT
BACKGROUND: Tumor invason and metastasis are the major causes of morbidity and death for cancer patients. Metastatic spread depends critically upon the invasiveness of the tumor cells, i.e., their ability to breach basement membrane by profusely secreting specific proteolytic enzymes such as MMP-2. TIMP-2 has a high affinity for progelatinase A and will form a 1:1 complex with either the latent or activated forms of the enzyme and has inhibitory activity against MMP-2. Laminin induced activation of Phospholipase D (PLD) and consequent generation of phosphatidic acid are involved in a signal propagation pathway leading to induction of MMP-2 in metastatic HT 1080 fibrosarcoma cells. We also studied a expression of PLD, MMP-2 and TIMP-2 in colorectal adenocarcinoma. METHODS: Colorectal adenocarcinomas from 13 patients in our hospital were studied for immunohistochemical expression of PLD, MMP-2, and TIMP-2 to assess their diagnostic and prognostic importance as well as relation between PLD and MMP-2. RESULTS: 1) Expression of PLD-2 was detected in 77% of the cases in colorectal adenocarcinomas. 2) MMP-2 expression was significantly associated with the presence of lymph-node metastasis, with moderated to strong expression present in 100% of the cases compared with 28.6% of the non-metastatic cases (P-value=0.017). 3) For colorectal adenocarcinomas, a strong correlation between PLD and MMP-2 expression was detected (P-value=0.008). CONCLUSION: PLD-2 can be used as a potential marker for malignant disease in colorectal adenocarcinomas. MMP-2 expression was significantly associated with the presence of lymph-nodemetastasis. A strong correlation between PLD and MMP-2 expression was also detected in colorectal carcinoma.