48 research outputs found
Cutis verticis gyrata in a patient with multiple basal cell carcinomas; case presentation and review of the literature
Cutis verticis gyrata is a rare disease characterized by convoluted folds and deep furrows of the scalp, resembling the gyri and sulci of the cerebral cortex. Basal cell carcinoma is the most frequent cancer in Caucasians, patients frequently presenting multiple tumors. We report the case of a 62 year old male, Caucasian patient, from the urban area, who addressed the dermatology department of our hospital for multiple tumors located on the face and upper trunk. A careful examination revealed cerebriform folding of the skin of the scalp. Neurological, psychological, ophthalmological and endocrine disorders were disproven. The patient was diagnosed with cutis verticis gyrata based on the clinical picture and anamnesis, and basal cell carcinoma based on the histopathological examination. Since cutis verticis gyrata predated the BCCs by four decades, and no other conditions were associated, the patient was diagnosed with primary essential cutis verticis gyrata
A descriptive analysis of medical health services utilization of Veterans living in Ontario: a retrospective cohort study using administrative healthcare data
The upgrade of the ALICE TPC with GEMs and continuous readout
The upgrade of the ALICE TPC will allow the experiment to cope with the high interaction rates foreseen for the forthcoming Run 3 and Run 4 at the CERN LHC. In this article, we describe the design of new readout chambers and front-end electronics, which are driven by the goals of the experiment. Gas Electron Multiplier (GEM) detectors arranged in stacks containing four GEMs each, and continuous readout electronics based on the SAMPA chip, an ALICE development, are replacing the previous elements. The construction of these new elements, together with their associated quality control procedures, is explained in detail. Finally, the readout chamber and front-end electronics cards replacement, together with the commissioning of the detector prior to installation in the experimental cavern, are presented. After a nine-year period of R&D, construction, and assembly, the upgrade of the TPC was completed in 2020.publishedVersio
Genomic investigations of unexplained acute hepatitis in children
Since its first identification in Scotland, over 1,000 cases of unexplained paediatric hepatitis in children have been reported worldwide, including 278 cases in the UK1. Here we report an investigation of 38 cases, 66 age-matched immunocompetent controls and 21 immunocompromised comparator participants, using a combination of genomic, transcriptomic, proteomic and immunohistochemical methods. We detected high levels of adeno-associated virus 2 (AAV2) DNA in the liver, blood, plasma or stool from 27 of 28 cases. We found low levels of adenovirus (HAdV) and human herpesvirus 6B (HHV-6B) in 23 of 31 and 16 of 23, respectively, of the cases tested. By contrast, AAV2 was infrequently detected and at low titre in the blood or the liver from control children with HAdV, even when profoundly immunosuppressed. AAV2, HAdV and HHV-6 phylogeny excluded the emergence of novel strains in cases. Histological analyses of explanted livers showed enrichment for T cells and B lineage cells. Proteomic comparison of liver tissue from cases and healthy controls identified increased expression of HLA class 2, immunoglobulin variable regions and complement proteins. HAdV and AAV2 proteins were not detected in the livers. Instead, we identified AAV2 DNA complexes reflecting both HAdV-mediated and HHV-6B-mediated replication. We hypothesize that high levels of abnormal AAV2 replication products aided by HAdV and, in severe cases, HHV-6B may have triggered immune-mediated hepatic disease in genetically and immunologically predisposed children
PARTICULARITIES IN THE CHILD CHRONIC RHINOSINUSITIS
Chronic rhinosinusitis is a rare pathology in pediatric pathology versus adult patients. Clinical manifestations
are related, on the one hand, with the anatomical particularities and, on the other hand, with the immune response correlated with the age of the child. Allergy is the main cause in 50% of child rhinitis, 40% of them debuting early until the age of 6 years. The clinical expression of allergic rhinosinusitis in children can sometimes be accompanied by comorbidity manifestations or complications. Impaired mucociliary clearance can be induced by other rare pathological situations that produce mucus rheology modification, as in cystic fibrosis (CF).
Through, the clinical heterogenicity of expression is in relation, on the one hand, with immunogenic response
and anatomical particularities relative to age of the child, and secondly with the diversity of inducing factors
(from very frequent like allergy to the least frequent, CF). It requires a correct diagnosis, early and appropriate
treatment by a multidisciplinary team collaboration
A rare case of pityriasis amiantacea of the scalp posing differential diagnosis challenges to fungal skin infections
PARTICULARITĂŢI ÎN RINOSINUZITA CRONICĂ LA COPIL
Rinosinuzita cronică (RSC), este o patologie rară în pediatrie comparativ cu adultul. Manifestările clinice sunt
în relaţie, pe de o parte, cu particularităţile anatomice, iar pe de altă parte, cu cele de răspuns imun corelate cu
vârsta copilului. Alergia constituie cauza principală în 50% dintre rinitele copilului, 40% dintre acestea debutând
precoce până la vârsta de 6 ani. Expresia clinică a rinosinuzitei alergice la copil poate fi uneori însoţită de manifestări ale comorbidităţilor alergice asociate sau de complicaţii de vecinătate. Alterarea clearance-ului mucociliar poate fi însă indus şi de alte situaţii patologice mai rare care produc modificarea proprietăţilor reologice
ale mucusului, ca în mucoviscidoză (FC). Prin heterogenitatea de expresie clinică în relaţie pe de o parte cu particularităţile de răspuns imunogenetic şi anatomice raportate la vârsta copilului şi pe de altă parte cu diversitatea factorilor etiologici inductori (de la foarte frecvenţi, precum alergia, la foarte puţin frecvenţi, FC), RSC impune un diagnostic corect, precoce şi un tratament adecvat prin colaborarea în echipă multidisciplinară
Mycosis fungoides foliculotrop – prezentare de caz
Clinica de Dermatovenerologie, Spitalul Clinic de Boli Infecţioase şi Tropicale „Victor Babeş”, Bucureşti, România, Congresul V Naţional de Dermatologie cu participare internaţională Chişinău, 9-11 iunie 2016, Chişinău, Republica MoldovaMycosis fungoides foliculotrop (Piper, 1960) este o formă rară de limfom cutanat cu limfocite T, reprezentând sub 10% din cazurile de Mycosis
fungoides. Clinic se caracterizează prin leziuni acneiforme sau comedoniene, papule foliculare, keratoză foliculară, chisturi epidermale, noduli
sau plăci eritematoase însoţite frecvent de alopecie, cu afectare preferenţială a capului, gâtului şi trunchiului superior. Spre deosebire de mycosis
fungoides clasic, pruritul este frecvent sever, reprezentând un marker al bolii. Diseminarea viscerală reprezintă un factor de prognostic important,
motiv pentru care trebuie investigate chiar şi cazurile cu leziuni cutanate minime.
Prezentăm cazul unui pacient în vârstă de 49 de ani, care s-a prezentat pentru plăci şi papule foliculare eritematoase localizate cervical şi
însoţite de o placă alopecică situată cervical posterior, cu evoluţie de aproximativ 1 an. Leziunile au debutat laterocervical stâng sub forma unei
plăci eritemato-papuloase, pruriginoase, cu extensie progresivă. A urmat un tratament topic cu corticosteroizi, fără ameliorare semnificativă.
Nu a fost pusă în evidenţă adenopatia palpabilă clinic, iar investigaţiile de rutină de laborator au fost în limite normale. Biopsia tegumentară
a evidenţiat în derm infiltrate limfoide cu celule mici-medii clivate, cu epidermo- şi foliculotropism. Imunohistochimic, limfocitele atipice şi
infiltratele limfoide exprimă CD3, CD4, CD5, CD7, CD8 şi CD30. Aspectele histopatologic şi imunohistochimic sunt compatibile cu diagnosticul
de limfom malign non-Hodgkin cu celulă mică-medie T de tip mycosis fungoides foliculotrop.
Pacientul a fost îndrumat către serviciul de Hematologie pentru investigaţii şi tratament de specialitate
Foreign Body Aspiration in Children—Retrospective Study and Management Novelties
Foreign body aspiration (FBA) is a frequent diagnosis in children. In the absence of other lung conditions, such as asthma or chronic pulmonary infections, this manifests as a sudden onset of cough, dyspnea, and wheezing. The differential diagnosis is based on a scoring system which takes into account the clinical picture as well as the radiologic aspects. The treatment that is considered the gold-standard for FBA in children remains to be rigid fibronchoscopy, however it comes with several potentially crucial local complications such as airway edema, bleeding, and bronchospasm, along inherent issues due to general anesthesia. Material and methods: Our study is a retrospective study analyzing the medical files of the cases from our hospital over the span of 9 years. The study group consisted of 242 patients aged 0–16 years diagnosed with foreign body aspiration in the Emergency Clinical Hospital for Children “Sfânta Maria” Iași, between January 2010–January 2018. Clinical and imaging data were extracted from the patients’ observation sheets. Results: In our cohort, the distribution of children with foreign body aspiration was uneven, with the highest incidence being reported in children from rural areas (70% of cases), whereas the most affected age group was 1–3 years, amounting to 79% of all cases. The main symptoms which led to emergency admittance were coughing (33%) and dyspnea (22%). The most important factors that determined the unequal distribution were socio-economic status, which relates to a lack of adequate supervision by parents, as well as the consumption of food inappropriate for their age. Conclusions: Foreign body aspiration is a major medical emergency that may be associated with dramatic clinical manifestations. Several scoring algorithms designed to establish the need for bronchoscopy have been proposed, taking into account both the clinical and radiological results. The issue with asymptomatic or mild symptomatic cases, as well as difficulties managing cases with radiolucent foreign bodies, remains a challenge