Diagnostic Work Out

2013 ◽  
pp. 59-63
Author(s):  
Alberta Ferrari ◽  
Adele Sgarella ◽  
Sandro Zonta ◽  
Giuseppe Di Giulio ◽  
Arianna Presazzi
Keyword(s):  
2020 ◽  
Vol 10 (2) ◽  
pp. 137-138
Author(s):  
Samiha Haque ◽  
Ishrat Jahan ◽  
Tufayel Ahmed Chowdhury ◽  
Muhammad Abdur Rahim ◽  
Mehruba Alam Ananna ◽  
...  

Rapidly progressive glomerulonephritis is one of the most dramatic and tragic presentations of lupus nephritis (LN) or renal manifestation of systemic lupus erythematosus (SLE). A 35-year-old Bangladeshi gentleman presented with worsening oedema, scanty, high colored, frothy urine and deteriorating renal function. He had puffy face, anaemia, oedema, normal jugular venous pressure (JVP), high blood pressure (150/90 mm Hg), ascites and bilateral pleural effusions. Diagnostic work-up confirmed SLE with class IV LN. His initial response to specific therapy showed improvement Birdem Med J 2020; 10(2): 137-138


Author(s):  
Paulo Victor Sgobbi de Souza ◽  
Bruno de Mattos Lombardi Badia ◽  
Igor Braga Farias ◽  
Eduardo Augusto Gonçalves ◽  
Wladimir Bocca Vieira de Rezende Pinto ◽  
...  

ABSTRACT Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated with acute hepatic porphyrias. Methods: The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acute hepatic porphyrias. Results: Acute neurovisceral attacks are the most common and life-threatening presentation of this group and are often considered the main clinical manifestation by clinicians during differential diagnosis and the start of proper diagnostic work-up for acute porphyrias. However, atypical presentations with central nervous system involvement, neuropsychiatric disturbances, and some subtypes with photosensitivity usually make the definite diagnosis difficult and late. Early therapeutic interventions are essential during emergency treatment and intercritical periods to avoid recurrent severe presentations. The availability of new disease-modifying therapeutic proposals based on small interfering RNA (siRNA)-based therapies, complementary to the classic intravenous glucose infusion and hemin-based treatments, emphasizes the importance of early diagnosis and genetic counseling of patients. Conclusions: This review article highlights the main biochemical, pathophysiological, clinical, and therapeutic aspects of acute hepatic porphyrias in clinical practice.


1995 ◽  
Vol 25 (2) ◽  
pp. 208-214 ◽  
Author(s):  
J.S. Shumway ◽  
H.N. Chappell

The Diagnosis and Recommendation Integrated System (DRIS) has been used successfully in agricultural crops and holds promise for use in forest stands. This study used soil tests to develop DRIS norms and evaluate their effectiveness in coastal Douglas-fir (Pseudotsugamenziesii (Mirb.) Franco) forests. DRIS norms for nitrogen, phosphorus, potassium, and calcium were developed using soil test and site index data from 72 soil series that commonly support Douglas-fir in western Washington. The norms were tested using soil test and stand basal area growth response data from 20 thinned and 30 unthinned N fertilizer test sites in coastal Washington and Oregon. Response to urea fertilizer in thinned stands averaged 34% and 43% for 224 and 448 kg N•ha−1, respectively, when N was identified as the most limiting nutrient. When N was not the most limiting nutrient, N response averaged 8% and 10% for 224 and 448 kg N•ha−1, respectively. Results were similar in unthinned stands and thinned stands, although response to fertilizer appeared to be slightly less in unthinned stands when N was the most limiting nutrient. DRIS correctly classified 25 of the 33 sites (76%) where N fertilizer increased growth by more than 15%. More importantly, 13 of the 17 (76%) sites that responded by less than 15% were correctly identified by DRIS. The results clearly indicate that N fertilizer response is dependent on the interactions (balance) between soil nutrients at a given site. Future soil diagnostic work needs to focus on techniques, like DRIS, that provide an assessment of these interactions.


2021 ◽  
Vol 23 (1) ◽  
pp. 33-49 ◽  
Author(s):  
Sally Griffin

Practical relevance: Abdominal ultrasound plays a vital role in the diagnostic work-up of many cats presenting to general and specialist practitioners. Ultrasound examination of the adrenal glands can provide important information pertaining to several conditions including hyperaldosteronism and hyperadrenocorticism. Clinical challenges: Despite ultrasonography being a commonly used modality, many practitioners are not comfortable performing an ultrasound examination or interpreting the resulting images. Even for the experienced ultrasonographer, differentiating between incidental findings, such as adrenal mineralisation, and clinically significant pathological changes can be challenging. Aim: This review, part of an occasional series on feline abdominal ultrasonography, discusses the ultrasonographic examination of the normal and diseased adrenal glands. Aimed at general practitioners who wish to improve their knowledge of and confidence in feline abdominal ultrasound, this review is accompanied by high-resolution images and videos available online as supplementary material. Equipment: Ultrasound facilities are readily available to most practitioners, although the use of ultrasonography as a diagnostic tool is highly dependent on operator experience. Evidence base: Information provided in this article is drawn from the published literature and the author’s own clinical experience.


2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S105-S105
Author(s):  
M Khedr ◽  
Y Yusuf ◽  
L Aftab

Abstract Introduction/Objective Plasmablastic myeloma (PBM) is a rare and aggressive plasma cell neoplasm. Differentiating PBM from plasmablastic lymphoma (PBL) represents a diagnostic challenge, as both diseases have overlapping cytomorphologic and immunophenotypic features. Genetic mutations in MYC occur in a majority of PBL cases but rarely in PBM, thus can theoretically be used to differentiate between both neoplasms. Methods We report a case of a 53-year-old female who presented with a rapidly growing mass in her right mandible. Biopsy revealed circumscribed nodules of immunoblastic cells with moderate cytoplasm, large vesicular nuclei and large prominent nucleoli. Apoptotic debris and brisk mitoses were present. Molecular testing revealed a C-MYC rearrangement. The location of the neoplasm and the above described morphological features were suggestive of PBL, especially with a positive C-MYC rearrangement. The neoplastic cells were positive for CD138, MUM1,CD56 and kappa; and negative for CD45, CD20, PAX5, CD3, CD5, CD30, EBER-ISH, HHV8, ALK-1, Lambda, EMA, CD21, CD23, pancytokeratin, CK20, CK7, Cam5.2, chromogranin, synaptophysin, HMB45, S100, P16, P40. MIB-1 showed high positivity, approximately 95%. Results Patient underwent further diagnostic work up, her HIV antibodies result were negative however, she was found to be anemic (Hemoglobin 6.6 g/dl; reference range 12-16 g/dl) and hypercalcemic (Calcium 12.3 mg/dl; reference range 8.5-10.5 mg/dl). PET scan revealed multiple hypermetabolic lytic bone lesions. The bone marrow biopsy showed 80% cellularity with extensive involvement by atypical plasmacytic cells forming large clusters. The patient’s final diagnosis was PBM. Conclusion Differentiating PBM from PBL is essential as treatment is different. Although MYC rearrangement in PBM is not common, it has been demonstrated and therefore should not be used to exclude this diagnosis. Here, we highlight the importance of correlating detailed clinical, radiological, laboratory, histological and genetics data for reaching the final diagnosis.


Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 218
Author(s):  
Antonella Cacchione ◽  
Alessia Carboni ◽  
Mariachiara Lodi ◽  
Rita De Vito ◽  
Andrea Carai ◽  
...  

We present a case demonstrating the performance of different radiographical imaging modalities in the diagnostic work-up of a patient with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN). The newborn boy showed an expansive-infiltrative cervical and facial mass presented with macrocrania, craniofacial disfigurement, exophthalmos and glaucoma. A computer tomography (CT) and a magnetic resonance imaging (MRI) were performed. The CT was fundamental to evaluate the bone dysmorphisms and the MRI was crucial to estimate the mass extension. The biopsy of the lesion confirmed the suspicion of PN, thus allowing the diagnosis of NF1. PN is a variant of neurofibromas, a peripheral nerves sheath tumor typically associated with NF1. Even through currently available improved detection techniques, NF1 diagnosis at birth remains a challenge due to a lack of pathognomonic signs; therefore congenital PN are recognized in 20% of cases. This case highlights the importance of using different radiological methods both for the correct diagnosis and the follow-up of the patient with PN. Thanks to MRI evaluation, it was possible to identify earlier the progressive increasing size of the PN and the possible life threatening evolution in order to perform a tracheostomy to avoid airways compression.


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