scholarly journals MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile

2017 ◽  
Vol 3 (3) ◽  
pp. 21
Author(s):  
Ralph Fingerhut ◽  
Pascal Joset ◽  
Niels Rupp ◽  
Martin Girsberger ◽  
Susanna Sluka ◽  
...  
Author(s):  
S Kehl ◽  
TM Völkl ◽  
F Baier ◽  
T Hildebrandt ◽  
MW Beckmann ◽  
...  

2020 ◽  
Vol 139 ◽  
pp. 93-102 ◽  
Author(s):  
MF Van Bressem ◽  
P Duignan ◽  
JA Raga ◽  
K Van Waerebeek ◽  
N Fraijia-Fernández ◽  
...  

Crassicauda spp. (Nematoda) infest the cranial sinuses of several odontocetes, causing diagnostic trabecular osteolytic lesions. We examined skulls of 77 Indian Ocean humpback dolphins Sousa plumbea and 69 Indo-Pacific bottlenose dolphins Tursiops aduncus, caught in bather-protecting nets off KwaZulu-Natal (KZN) from 1970-2017, and skulls of 6 S. plumbea stranded along the southern Cape coast in South Africa from 1963-2002. Prevalence of cranial crassicaudiasis was evaluated according to sex and cranial maturity. Overall, prevalence in S. plumbea and T. aduncus taken off KZN was 13 and 31.9%, respectively. Parasitosis variably affected 1 or more cranial bones (frontal, pterygoid, maxillary and sphenoid). No significant difference was found by gender for either species, allowing sexes to be pooled. However, there was a significant difference in lesion prevalence by age, with immature T. aduncus 4.6 times more likely affected than adults, while for S. plumbea, the difference was 6.5-fold. As severe osteolytic lesions are unlikely to heal without trace, we propose that infection is more likely to have a fatal outcome for immature dolphins, possibly because of incomplete bone development, lower immune competence in clearing parasites or an over-exuberant inflammatory response in concert with parasitic enzymatic erosion. Cranial osteolysis was not observed in mature males (18 S. plumbea, 21 T. aduncus), suggesting potential cohort-linked immune-mediated resistance to infestation. Crassicauda spp. may play a role in the natural mortality of S. plumbea and T. aduncus, but the pathogenesis and population level impact remain unknown.


JMS SKIMS ◽  
2012 ◽  
Vol 15 (1) ◽  
pp. 76-77
Author(s):  
Mohd Athar ◽  
K S Sodhi ◽  
S Kala ◽  
R K Maurya ◽  
S Chauhan ◽  
...  

Adenoid cystic carcinoma is a relatively uncommon tumour of salivary, glands and is characterised by a prolonged clinical course and a fatal outcome. It was first described as `cylindroma' by Billroth in 1859. Half of these tumors occur in glandular tissues other than the major salivary glands; principally in the hard palate, but they can also arise in the tongue and minor salivary glands. Unusual locations include the external auditory canal, nasopharynx, lacrimal glands, breast, vulva, esophagus, cervix and Cowper glands. The long natural history of this tumor and its tendency for local recurrence are well known. JMS 2012;15(1):76-77.


2012 ◽  
Vol 153 (19) ◽  
pp. 751-755 ◽  
Author(s):  
Gábor Irsai ◽  
Tatjana Tampu-Kiss ◽  
Balázs Dezső ◽  
Zsófia Miltényi ◽  
Árpád Illés ◽  
...  

Cytomegalovirus infection related changes frequently remain masked by local symptoms of tumor invasion or therapeutic side effects in cancer patients. The spectrum of cytomegalovirus manifestations, however, can be highly varied and may contribute to the failure of different organs with fatal outcome. The case of a 29-year-old female patient is presented who obtained polychemotherapy and allogenic stem cell transplantation following the diagnosis of classical Hodgkin’s disease. Despite intensified treatment, only partial response could be achieved and the outcome of the disease was death. Postmortem examination revealed regressive lymph node infiltration as well as nodular liver and spleen manifestations of classical Hodgkin’s disease. In addition, parenchymal tissues (lung, kidneys, small intestine, liver, pancreas and ovaries) showed the classical morphology of widespread cytomegalovirus infection. Bilateral enlargement of the ovaries was caused by a partially necrotic giant cell proliferation in the subepithelial cortex. CD30-negativity and cytomegalovirus antigen positivity of the large atypical cell infiltrate supported the diagnosis of cytomegalia oophoritis with morphological overlap between cytomegalovirus-infected giant cells and residual Hodgkin-Reed-Sternberg cells. Further to the cytopathic effect in multiple organs, significant hemophagocytosis was also observed in the spleen, liver and bone marrow. In summary, active cytomegalovirus infection may be a major cause of multi-organ failure in the immunosuppressed oncohematological patient. Careful postmortem analysis demonstrated both the activity of the viral infection and the efficacy of the anti-viral treatment, when applied. Orv. Hetil., 2012, 153, 751–755.


2019 ◽  
Vol 4 (67) ◽  
pp. 194
Author(s):  
Aida Petca ◽  
Oana Calo ◽  
Florica Şandru ◽  
Răzvan Petca ◽  
Nicoleta Măru ◽  
...  

1997 ◽  
Vol 17 (4) ◽  
pp. 617-624 ◽  
Author(s):  
Philippe Moerman ◽  
Chris Van Geet ◽  
Hugo Devlieger
Keyword(s):  

Author(s):  
Deepak Kumar ◽  
Suresh Bishnoi ◽  
Durga Shankar Meena ◽  
Gopal Krishana Bohra ◽  
Naresh Midha ◽  
...  

Background: Cryptococcal meningitis is a dreaded complication in HIV infected patients. It was associated with high mortality and morbidity before the advent of Highly Active Anti-Retroviral Therapy. A study was planned in our institute to evaluate the clinical profile, laboratory findings, and prognostic factors for survival in these patients. Settings and Design: A prospective hospital-based observational study, conducted in the Department of Medicine at a tertiary care centre in western Rajasthan. Method and Material: HIV infected patients presenting with clinical features of meningitis, and positive CSF culture for Cryptococcus were included in our study. All cases underwent detailed clinical history, physical examinations and relevant laboratory investigations including CD4 count and CSF examination. Results: 48 HIV infected cryptococcal meningitis patients were analysed, and the most common presenting clinical features were headache (85.42%), and fever (72.92%), followed by neck stiffness (62.50%). CSF examination was also done for Cryptococcal Antigen test which was reactive in all cases (100%), and India ink staining was positive in 43 cases (89.58%). Significant fatal outcome was associated with patients presenting with altered sensorium, loss of consciousness, cranial nerve palsy and CD4 cell count of less than 100. Similarly, on laboratory and imaging diagnosis, cryptococcal antigen test (>3+reactive), fundus examination (papilloedema) and abnormal CT/MRI brain imaging were associated with poor survival. Conclusion: Cryptococcal meningitis is a potentially lethal infection in immunocompromised individuals and should be diagnosed early with high clinical suspicion as around 10% of the cases may not be detected on India ink staining and a large proportion (75%) of cases may have normal imaging at initial evaluation. Early diagnosis, watchful eye on prognostic factors and treatment is vital to improve outcome in these patients.


Sign in / Sign up

Export Citation Format

Share Document