Incontinentia pigmenti – clinical cases in 3 generations

Generalităţi. Incontinentia pigmenti sau sindromul Bloch-Sulzberger este o afecţiune genetică, cu transmitere dominant X-lincată, caracterizată prin leziuni cutanate cu evoluţie stadială, asociate cu anomalii ale sistemului nervos central, oft almologice, dentare, care se manifestă doar la nou-născuţii de sex feminin, întrucât produșii de concepţie de sex masculin nu supravieţuiesc până la naștere. Scopul lucrării. Evidenţierea originii genetice a maladiei, mai exact transmiterea dominantă, legată de cromozomul X. Material și metodă. Este prezentat cazul clinic al unei paciente în vârstă de 6 ani, diagnosticată cu incontinentia pigmenti, care acuză leziuni cutanate (macule hiperpigmentate, însoţite de fenomene de hiperkeratoză) și retard mental. Mama și bunica fetiţei suferă de aceeași maladie. Mama, în vârstă de 35 de ani, prezintă anamneză obstetricală patologică: o sarcină extrauterină și un avort spontan la 12 săptămâni de gestaţie. Concluzie. Incontinentia pigmenti este o afecţiune genetică, cu transmitere dominant X-lincată. Așadar, gena care produce boala este legată de cromozomul X, responsabil de sexul individului uman. Pentru sexul masculin, patologia este letală (97%), produsul de concepţie murind încă în perioada de dezvoltare intrauterină.Generalities. Incontinentia pigmenti or Bloch-Sulzberger syndrome is a genetic disorder X-linked dominant transmitted, characterized by skin lesions evolving stage, associated with central nervous system abnormalities, ophthalmic, dental, manifested only to newborns sex femenin, whereas products of conception male do not survive to birth. Objectives. To determine the genetic origin of disease, specifi cally linked to chromosome X. dominant transmission. Materials and methods. Presented clinical case of a patient aged 6 years old, diagnosed with incontinentia pigmenti, showing skin lesions (patches of increased pigmentation, accompanied by phenomena hyperkeratosis) and mental retardation. Th e girl’s mother and grandmother suffer from the same malady. The mother, aged 35, presents obstetric pathological history: an ectopic pregnancy and a miscarriage at 12 weeks of gestation. Conclusion. Incontinentia pigmenti is attributed to the X-linked genetic disease transmitted by dominant gene that causes the disease and by it is linked to the X chromosome, responsible for sex of a human individual. For males, the pathology is fatal (97%), the off spring will die during the period of intrauterine development

Features of rosacea: a study on 112 patients

Generalităţi. Rozaceea este o afecţiune destul de frecventă, răspândită în întreaga lume şi care merită toată atenţia. Este întâlnită la aproximativ 10% dintre persoanele cu vârsta de peste 30 de ani, mai frecventă la femei, dar cu manifestări mai severe la bărbaţi. Aspectul deosebit al erupţiilor cutanate din rozacee au o influenţă negativă asupra calităţii vieţii pacienţilor, stigmatizându-i şi conferindu-le senzaţii de inferioritate şi jenă în mediul social. Scopul studiului constă în decelarea particularităţilor clinice şi sociale la femeile cu rozacee. Material şi metode. A fost efectuat un studiu retrospectiv, observaţional şi descriptiv pe un eşantion de 112 pacienţi, 89 de femei şi 23 de bărbaţi internaţi şi trataţi în 2014, în Spitalul Dermatologie şi Maladii Comunicabile. 30 dintre aceştia, 15 femei şi 15 bărbaţi, au fost chestionaţi pentru aprecierea impactului rozaceei asupra calităţii vietii. Pentru colectarea materialului primar a fost utilizată metoda extragerii informaţiei din fişele medicale. Chestionarul utilizat: Dermatology Life Quality Index (DLQI). Rezultate. Rezultatele obţinute au demonstrat o preponderenţă a bolii pentru sexul feminin cu 79% faţă de 21% - la cel masculin. Conform mediului de provenienţă, pentru ambele sexe este preponderent cel rural: 66% pentru femei şi 60% pentru bărbaţi. Drept formă clinică prevalează cea papulopustuloasă – 87%, forma eritemato-teleangiectazică – 11% şi cea fimatoasă – în doar 2% cazuri. La 75% dintre bărbaţi şi 78% dintre femei a fost depistat Demodex folliculorum. La 52% femei şi 55% bărbaţi a fost depistat Helicobacter pylori. Asocierea cu patologia gastrointestinală a decelat un procentaj de 68% pentru femei şi 48% pentru bărbaţi. Referitor la aprecierea impactului maladiei asupra calităţii vieţii, s-a demonstrat că pentru femei aspectul fizic influenţează direct asupra vieţii, făcându-le dificilă afirmarea în societate atât privitor la studii, precum şi cu referire la construirea unor relaţii noi cu persoane de sex opus. Majoritatea femeilor menţionează faptul, că încearcă zilnic să ascundă cu ajutorul diferitor creme şi cosmetice leziunile caracteristice rozaceei. Pentru bărbaţi aspectul fizic nu este atât de relevant. Concluzii. Prevalenţa sexului feminin asupra celui masculin este elucidată într-un raport de 3:1. Conform altor parametri (mediul de provenienţă, forma clinică, vârsta de debut, prezenţa Demodex folliculorum, asocierea cu Helicobacter pylori), diferenţe esenţiale între genuri nu s-au depistat. Din punct de vedere al impactului psiho-social, femeile sunt mult mai afectate.Introduction. Rosacea is a very common condition, which is worldwide spread deserving much attention. It is encountered in about 10% of people aged over 30 years. It is more common in women but men experience more severe symptoms. The appearance of rosacea rush has a negative impact on patients’ quality of life, stigmatizing them and causing feelings of inferiority and embarrassment in social environment. The aim of the study is to determine the clinical and social features in women diagnosed with rosacea. Material and methods. A retrospective, observational and descriptive study was carried out on a sample of 112 patients, 89 women and 23 men who were hospitalized and treated in 2014 in Hospital of Dermatovenerology and Infectious Diseases. 30 patients (15 women and 15 men) were interviewed to assess the impact of rosacea on the quality of their life. The extraction from patients’ medical record method was used to collect the primary information. The questionnaire that was used was Dermatology Life Quality Index (DLQI). Results. The results demonstrate a predominance of females (79%) suffering from this condition over men (21%). According to the geographical origin criterion, the rural areas predominate for both sexes: 66% of women and 60% of men. According to the clinical form, papulopustular prevails (87%), erythematous telangiectasia constitutes 11% and Fimat appears in just 2% of cases. Demodex folliculorum was detected in 75% of men and 78% of women. Helicobacter pylori was present in 52% of women and 55% of men. The association with gastrointestinal pathology was revealed in 68% of women and 48% of men. As for the assessment of rosacea impact on the quality of life it was shown that women’s physical appearance directly influences the quality of their life, making difficult their academic and social affirmation in society and also creating new relationships with the opposite sex. Most women state that they try daily to hide rosacea lesions using different creams and cosmetic products. Men’s physical appearance was not so relevant. Conclusions. Women prevail over male with the ratio being 3: 1. According to other parameters (geographical origin, clinical form, age of onset, the presence of Demodex folliculorum association with Helicobacter pylori), no significant differences between the sexes was identified. In terms of psychosocial impact, women are more affected

The surgical safety checklist and patient outcomes after surgery: a prospective observational cohort study, systematic review and meta-analysis

© 2017 British Journal of Anaesthesia Background: The surgical safety checklist is widely used to improve the quality of perioperative care. However, clinicians continue to debate the clinical effectiveness of this tool. Methods: Prospective analysis of data from the International Surgical Outcomes Study (ISOS), an international observational study of elective in-patient surgery, accompanied by a systematic review and meta-analysis of published literature. The exposure was surgical safety checklist use. The primary outcome was in-hospital mortality and the secondary outcome was postoperative complications. In the ISOS cohort, a multivariable multi-level generalized linear model was used to test associations. To further contextualise these findings, we included the results from the ISOS cohort in a meta-analysis. Results are reported as odds ratios (OR) with 95% confidence intervals. Results: We included 44 814 patients from 497 hospitals in 27 countries in the ISOS analysis. There were 40 245 (89.8%) patients exposed to the checklist, whilst 7508 (16.8%) sustained ≥1 postoperative complications and 207 (0.5%) died before hospital discharge. Checklist exposure was associated with reduced mortality [odds ratio (OR) 0.49 (0.32–0.77); P\u3c0.01], but no difference in complication rates [OR 1.02 (0.88–1.19); P=0.75]. In a systematic review, we screened 3732 records and identified 11 eligible studies of 453 292 patients including the ISOS cohort. Checklist exposure was associated with both reduced postoperative mortality [OR 0.75 (0.62–0.92); P\u3c0.01; I2=87%] and reduced complication rates [OR 0.73 (0.61–0.88); P\u3c0.01; I2=89%). Conclusions: Patients exposed to a surgical safety checklist experience better postoperative outcomes, but this could simply reflect wider quality of care in hospitals where checklist use is routine

Critical care admission following elective surgery was not associated with survival benefit: prospective analysis of data from 27 countries

This was an investigator initiated study funded by Nestle Health Sciences through an unrestricted research grant, and by a National Institute for Health Research (UK) Professorship held by RP. The study was sponsored by Queen Mary University of London

Prospective observational cohort study on grading the severity of postoperative complications in global surgery research

Background The Clavien–Dindo classification is perhaps the most widely used approach for reporting postoperative complications in clinical trials. This system classifies complication severity by the treatment provided. However, it is unclear whether the Clavien–Dindo system can be used internationally in studies across differing healthcare systems in high- (HICs) and low- and middle-income countries (LMICs). Methods This was a secondary analysis of the International Surgical Outcomes Study (ISOS), a prospective observational cohort study of elective surgery in adults. Data collection occurred over a 7-day period. Severity of complications was graded using Clavien–Dindo and the simpler ISOS grading (mild, moderate or severe, based on guided investigator judgement). Severity grading was compared using the intraclass correlation coefficient (ICC). Data are presented as frequencies and ICC values (with 95 per cent c.i.). The analysis was stratified by income status of the country, comparing HICs with LMICs. Results A total of 44 814 patients were recruited from 474 hospitals in 27 countries (19 HICs and 8 LMICs). Some 7508 patients (16·8 per cent) experienced at least one postoperative complication, equivalent to 11 664 complications in total. Using the ISOS classification, 5504 of 11 664 complications (47·2 per cent) were graded as mild, 4244 (36·4 per cent) as moderate and 1916 (16·4 per cent) as severe. Using Clavien–Dindo, 6781 of 11 664 complications (58·1 per cent) were graded as I or II, 1740 (14·9 per cent) as III, 2408 (20·6 per cent) as IV and 735 (6·3 per cent) as V. Agreement between classification systems was poor overall (ICC 0·41, 95 per cent c.i. 0·20 to 0·55), and in LMICs (ICC 0·23, 0·05 to 0·38) and HICs (ICC 0·46, 0·25 to 0·59). Conclusion Caution is recommended when using a treatment approach to grade complications in global surgery studies, as this may introduce bias unintentionally