SINGLE-CENTRE EXPERIENCE WITH MONDOR'S DISEASE: CLINICAL PRESENTATION, THERAPY AND OUTCOME

2006 ◽  
Vol 5 (2) ◽  
pp. 82
Author(s):  
G.M. Pinggera ◽  
K. Tosun ◽  
L. Pallwein ◽  
M. Mitterberger ◽  
J. Bektic ◽  
...  
Author(s):  
Sarar Mohamed ◽  
Edna F. Roche ◽  
Hilary M.C.V. Hoey

AbstractAge at diagnosis of girls with Turner syndrome (TS) is an important indicator of successful management. We determined the age, initial clinical presentation, and chromosomal abnormalities in patients with TS.This was a retrospective evaluation of the clinical and laboratory records of patients with TS.Sixty-five patients with TS were identified; 40 (62%) were diagnosed after age 5 years. The main presenting features were short stature, delayed puberty, dysmorphic features, and neonatal lymphoedema. Chromosomal analysis of this cohort showed that 31 patients demonstrated mosaicism, while a 45,X karyotype was observed in 19. The remaining patients had variable abnormalities including deletion, translocation, isochromosome, and ring chromosome. Y-chromosome material was found in four cases.Most patients with TS were diagnosed after age 5 years, had a varied clinical presentation, and had a wide range of chromosomal abnormalities.


Author(s):  
Ndubueze Ezemba ◽  
Okechukwu C Okafor ◽  
Nwadinma U Emeruem ◽  
Charles O Adiri

Abstract OBJECTIVES Thoracic endometriosis syndrome (TES) is the presence of functional endometrial tissue in or around the lung. There seem to be differences in the clinical presentation of this condition among Nigerian patients. We aim to study the clinical presentation and management outcome of TES in our centre. METHODS This is an analysis of consecutive patients with TES treated over a 5-year period and followed up for 6 months to 5 years. Information collected included the gynaecological history, clinical presentation, causes of misdiagnosis, modalities of treatment and outcome. RESULTS Twenty-three patients with TES aged between 24 and 45 years (median 32 years) were treated. Severe dysmenorrhoea was a prominent symptom in 91.3% of cases (median dysmenorrhoea score 8) and was uninfluenced by the marital status (P = 0.522). The patients usually presented with massive or recurrent haemothorax associated with massive ascites [16/23 (69.5%) of cases (P = 0.0006)]. The right side alone was involved in 21 cases and 1 patient had catamenial haemoptysis as a part of her symptoms, even though there was bronchial bleed at bronchoscopy in 6 patients. In 40%, tuberculosis was the misdiagnosis. Diagnosis was established histologically in 18/23 (78.3%) of the cases. Treatment was multimodal and multidisciplinary with notable macroscopic lesions in 77.8% of the patients that had surgery. CONCLUSIONS TES is not an uncommon lesion. Presentation with massive haemothorax is usually associated with massive ascites. A large percentage of such have pleural and diaphragmatic lesions that require surgical treatment. The ascites may be refractory to treatment requiring repeated paracentesis.


Author(s):  
A Mirian ◽  
S McFadden ◽  
P Edmond ◽  
V Bhayana ◽  
L Yang ◽  
...  

Background: We reviewed our autoimmune encephalitis neural antibody testing using brain tissue indirect immunofluorescence (TIIF) and cell-based assays (CBAs) after one year. Methods: Samples were tested from March 2019–March 2020 by TIIF and CBA for anti-NMDAR, LGI1, CASPR2, AMPAR, GABA(B)R, DPPX, IgLON5 and GAD65. Weakly positive or positive CBA, with or without corresponding TIIF positivity, was reported positive. Clinical questionnaires were submitted for clinical-serological correlation. Patients with a compatible clinical phenotype and no more likely alternative diagnosis were classified as true-positives, while all others were flagged as possible false-positives. Results: Twenty of 373 patients (5.4%) had a positive neural antibody. All anti-LGI1 (N=4), GAD65 (N=4), and GABA(B)R (N=1) were classified as true-positives. In contrast, only 3/6 anti-CASPR2 and 3/5 anti-NMDAR were classified as true-positives. Among true-positives, 2/4 anti-LGI and 3/3 anti-CASPR2 were positive by CBA only. All possible false-positive results exhibited only weak serum staining by CBA, with negative serum TIIF and negative CSF CBA/TIIF (if available). Conclusions: Clinical sensitivity of CBA seems higher than TIIF for neural antibodies studied herein, but may come at some expense to clinical specificity. Among patients with weak serum staining by CBA, correlation with serum TIIF, CSF CBA/TIIF, and clinical presentation is recommended.


2019 ◽  
Vol 38 (2) ◽  
pp. 150-157 ◽  
Author(s):  
Ravi Bokarvadia ◽  
Mayank Jain ◽  
Chandankumar Kedarisetty ◽  
Joy Varghese ◽  
Jayanthi Venkataraman

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