DATA SOURCES: A PubMed search was conducted using Clinical Queries with the key term "Langerhans cell histiocytosis". The search strategy included meta-analyses, randomized controlled trials, clinical trials, observational studies, and reviews. This paper is based on, but not limited to, the search results.
RESULTS: Generally, patients with LCH can be divided into two groups based on the extent of involvement at diagnosis, namely, single-system LCH and multisystem LCH. The involvement may be unifocal or multifocal. Patients with isolated bone lesions typically present between 5 and 15 years of age, whereas those with multisystem LCH tend to present before 5 years of age. The clinical spectrum is broad, ranging from an asymptomatic isolated skin or bone lesion to a life-threatening multisystem condition. Clinical manifestations include, among others, "punched out" lytic bone lesion, seborrheic dermatitis-like eruption, erythematous/reddish-brown crusted/scaly papules/maculopapules/plaques/patches, and eczematous lesions, diabetes insipidus, hepatosplenomegaly, cytopenias, lymphadenopathy, and an acute fulminant disseminated multisystem condition presenting with fever, skin rash, anemia, thrombocytopenia, lymphadenopathy, and hepatosplenomegaly. The diagnosis is clinicopathologic, based on typical clinical findings and histologic/immunohistochemical examination of a biopsy of lesional tissue. Positive CD1a, S100, and/or CD207 (Langerin) immunohistochemical staining of lesional cells is required for a definitive diagnosis. Watchful waiting is recommended for patients with skin-only LCH. Patients with symptomatic or refractory skin-only LCH may be treated with topical tacrolimus/corticosteroids, topical nitrogen mustard, oral methotrexate, or oral hydroxyurea. The current recommended first-line therapy for patients with multisystem LCH is 12 months therapy with prednisone and vinblastine. Mercaptopurine is added for patients with risk organ involvements.
CONCLUSIONS: Because of the broad spectrum of clinical manifestations and the extreme diversity of disease, LCH remains a diagnostic dilemma. Morphological identification of LCH cells and positive immunochemical staining with CD1a, S100, and/or CD207 (Langerin) of lesional cells are necessary for a definitive diagnosis.
METHOD: The scientific information on COVID-19 was analysed by a literature search in MEDLINE, PubMed, the National and International Guidelines from the European Academy of Allergy and Clinical Immunology (EAACI), the Cochrane Library, and the internet.
RESULTS: Based on the diagnostic and treatment standards developed by EAACI, on international information regarding COVID-19, on guidelines of the World Health Organization (WHO) and other international organizations, and on previous experience, a panel of experts including clinicians, psychologists, IT experts, and basic scientists along with EAACI and the "Allergic Rhinitis and its Impact on Asthma (ARIA)" initiative have developed recommendations for the optimal management of allergy clinics during the current COVID-19 pandemic. These recommendations are grouped into nine sections on different relevant aspects for the care of patients with allergies.
CONCLUSIONS: This international Position Paper provides recommendations on operational plans and procedures to maintain high standards in the daily clinical care of allergic patients while ensuring the necessary safety measures in the current COVID-19 pandemic.
METHODS: Electronic searches were conducted in the Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, MEDLINE (complete), PubMed and Scopus. Eligible studies to be included in this review were cohort studies with participants confirmed by laboratory test for dengue infection and comparison among the different severity of dengue infection by using statistical models. The methodological quality of the paper was assessed by independent reviewers using QUADAS-2.
RESULTS: Twenty-six studies published from 1994 to 2017 were included. Most diagnostic models produced an accuracy of 75% to 80% except one with 86%. Two models predicting severe dengue according to the WHO 2009 classification have 86% accuracy. Both of these logistic regression models were applied during the first three days of illness, and their sensitivity and specificity were 91-100% and 79.3-86%, respectively. Another model which evaluated the 30-day mortality of dengue infection had an accuracy of 98.5%.
CONCLUSION: Although there are several potential predictive or diagnostic models for dengue infection, their limitations could affect their validity. It is recommended that these models be revalidated in other clinical settings and their methods be improved and standardised in future.
RECENT FINDINGS: Genetic testing for familial hypercholesterolaemia is valuable to enhance diagnostic precision, cascade testing, risk prediction and the use of new medications. Hypertriglyceridaemia may be caused by rare recessive monogenic, or by polygenic, gene variants; genetic testing may be useful in the former, for which antisense therapy targeting apoC-III has been approved. Familial high-density lipoprotein deficiency is caused by specific genetic mutations, but there is no effective therapy. Familial combined hyperlipidaemia (FCHL) is caused by polygenic variants for which there is no specific gene testing panel. Familial dysbetalipoproteinaemia is less frequent and commonly caused by APOE ε2ε2 homozygosity; as with FCHL, it is responsive to lifestyle modifications and statins or/and fibrates. Elevated lipoprotein(a) is a quantitative genetic trait whose value in risk prediction over-rides genetic testing; treatment relies on RNA therapeutics.
SUMMARY: Genetic testing is not at present commonly available for managing dyslipidaemias. Rapidly advancing technology may presage wider use, but its worth will require demonstration of cost-effectiveness and a healthcare workforce trained in genomic medicine.
CASE PRESENTATION: A 67-year old male presented with left Cogan's anterior internuclear ophthalmoplegia (INO), left appendicular ataxia and bilateral upgaze palsy. A Magnetic Resonance Imaging (MRI) and Magnetic Resonance Angiography (MRA) brain showed a left dorsal tegmental infarct at the level of pontomesencephalic junction.
CONCLUSIONS: This case highlights the clinical importance of Cogan's anterior INO in combination with upgaze palsy and ataxia, and report possible site of lesion in patients with such constellation. Clinicians should consider looking for cerebellar signs in cases of Cogan's anterior INO, apart from just considering localizing the lesion at the midbrain.