Search results for "Case reports"
showing 10 items of 42 documents
Homozygous Resistance to Thyroid Hormone β: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure?
2017
Resistance to thyroid hormone β (RTHβ) due to homozygous THRB defects is exceptionally rare, with only five kindreds reported worldwide. Cardiac dysfunction, which can be life-threatening, is recognized in the disorder. Here we describe the clinical, metabolic, ophthalmic, and cardiac findings in a 9-year-old boy harboring a biallelic THRB mutation (R243Q), along with biochemical, physiologic, and cardiac responses to carbimazole and triiodothyroacetic acid (TRIAC) therapy. The patient exhibits recognized features (goiter, nonsuppressed thyroid-stimulating hormone levels, upper respiratory tract infections, hyperactivity, low body mass index) of heterozygous RTHβ, with additional characteri…
Acute onset of bulbar amyotrophic lateral sclerosis after flu – look at the differential diagnosis: A case report
2018
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting upper and lower motor neurones. It can be either familial (fALS) or sporadic (sALS). ALS is characterized by muscle weakness and atrophy that can involve the limbs and trunk (i.e. the spinal form of the disease) or speech and swallowing (i.e. the bulbar form). The aetiology of sALS remains unclear although a gene–environment interaction has been proposed as a concomitant trigger for the neurodegenerative process together with viral infections, smoking, heavy metals and pesticide exposure. Herein, we report the case of a 67-year-old woman who experienced an acute onset of bulbar ALS with an atypical clinical cours…
Esophageal atresia and Beckwith–Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report
2018
Key Clinical Message Recent studies report a high incidence of monozygotic twinning in Beckwith–Wiedemann syndrome. A phenotypical discordance in monozygotic twins is rare. Twinning and Beckwith–Wiedemann syndrome show higher incidence in children born after assisted reproductive techniques. We report on the first observation of esophageal atresia and Beckwith–Wiedemann syndrome in one of the naturally conceived discordant monozygotic twins.
Mitochondrial disruption and apoptosis in lymphocytes of an HIV infected patient affected by lactic acidosis after treatment with highly active antir…
2003
Aims: Highly active antiretroviral therapy (HAART) can induce an increase in lactic acid concentrations that seems to be caused by mitochondrial dysfunction induced by the interaction of nucleoside reverse transcriptase inhibitors (NRTIs) with DNA polymerase γ in the mitochondria. Mitochondrial alterations have been described in liver and muscle cells of NRTI treated human immunodeficiency virus (HIV) infected patients. Because lymphocytes are the main target for HIV and because mitochondria are involved in apoptosis, we studied mitochondrial morphology and apoptosis in the lymphocytes of an HIV infected patient with severe lactic acidosis after treatment with stavudine, didanosine, and ind…
Late onset of unilateral optic disk edema secondary to treatment with imatinib mesylate
2017
Key Clinical Message Prompt ophthalmology evaluation and immediate imatinib suspension should be suggested at any time of tyrosine kinase inhibitor therapy in patients with visual deficit, as it may be a clinical manifestation of optic disk edema, and suspension may help in prompt recovery.
Systemic schistosomiasis and large bowel perforation: An unexpected surgical urgency. Report of a case and literature review
2019
Key Clinical Message In the presence of suggestive clinical picture (high eosinophil count and multiple CT scan granuloma‐like lesions), schistosomiasis should be taken into account in case of suspected bowel perforation even if common risk factors are not identified through anamnesis.
Two episodes of Taravana syndrome in a breath-hold diver with hyperhomocysteinemia
2018
Key Clinical Message Taravana syndrome is a rare dysbaric disease characterized by neurologic signs and symptoms. Differently from others decompression illness, it has unspecified pathophysiology and unclear predisposing factors. Our cases suggest that thrombophilic state due to hyperhomocysteinemia could increase the risk to develop Taravana syndrome.
Dry needling technique decreases spasticity and improves general functioning in incomplete spinal cord injury: A case report
2018
Context: Spasticity in neurological disorders (i.e. stroke patients and cerebral palsy) is positively improved by dry needling. However, reports are scarce regarding the potential effects of dry needling in reducing spasticity and improving functionality in patients with an incomplete spinal cord injury. The aim of this case report was to study the immediate, short-term effects of dry needling treatment (10 weeks) on spasticity, dynamic stability, walking velocity, self-independence, and pain in a single patient with an incomplete spinal cord injury. Findings: The dry needling treatment resulted in immediate, short-time effects on basal spasticity in the upper (reduction from 2 to 0 point m…
Isolation and characterization of Bartonella quintana from parotid gland of an immunocompetent man.
2009
We describe a case of the isolation of Bartonella quintana from the parotid gland of an apparently healthy man. Pathological examination showed intraparotid granulomatous abscessual lymphadenitis. Diagnosis was made on the basis of high titers of immunoglobulin G (IgG) and IgM antibodies and of culture isolation of a causative agent from parotid aspirate.
Persistent Legionella Infection in a Patient after Bone Marrow Transplantation
2000
ABSTRACT We report on a patient who developed Legionella pneumonia after bone marrow transplantation. Despite appropriate antibiotic treatment, disease progressed. The patient developed a lung abscess from which Legionella and Prevotella were isolated. Cure was achieved by surgical resection. The resected material was sterile, but 16S ribosomal DNA analysis revealed Legionella DNA.