EXTREME CEREBRAL MALFORMATION – CLINICAL AND ETHICAL ISSUES BASED ON A CASE

Hydranencephaly represents one of the most rare cerebral malformations, with poor prognosis and negative impact on both family and society. Usually the patients remain in a permanent vegetative state and require unlimited medical care. Although the majority of affected babies die in utero or in the fi rst days-months of life there have been cases in literature with prolonged survival, for 20 (1), 22 (2) and 32 (3) years. Therapeutically, the medical care provided are purely palliative and oriented to supporting vital function. Conclusions. Hydranencephaly is a rare brain malformation with poor prognosis, life expectancy and quality of life. Diagnosis imposes a number of ethical issues. The importance resides in the fact that prenatal detection represents an indication for therapeutic abortion. Another ethical issue raised is represented by medical care provided, which is exclusively palliative. Both surgical and novel therapeutic methods described by the literature, like endoscopic coagulation of choroid plexes, do not infl uence the neurological status and the neuropsychomotordevelopment (4). All this data should be clearly explained to parents and legal tutors for not raising any false hopes regarding the evolution

Systemic lupus erythematosus – the discrepancy between renal impairment and clinical and immunological manifestations

Systemic lupus erythematosus (SLE) is the prototype of autoimmune diseases with multiorgan involvement, most commonly targeting the skin, joints and kidneys. The existence and type of renal involvement influence the prognosis and this information may be crucial when it comes to establishing the optimal therapy. We present the case of a patient with SLE with skin involvement (vasculitis), joint manifestations and immunological markers remitted under synthetic remissive treatment but with severe renal damage diagnosed at the renal biopsy as a glomerulosclerosis type focal segmental podocytopathy (FSGS) collapsing variant associated with a possible ultrastructural defect of the glomerular basement membrane in the context of the disease with a severe prognosis

The prevalence and risk factors for visceral hemangiomas in children with infantile cutaneous hemangiomas

One of the most frequent benign tumor pathology in children is represented by infantile hemangiomas (IHs). Although they are mostly cutaneous, sometimes they can develop at visceral level, the liver being the most common localization. Objectives. Estimating visceral hemangiomas (VHs) prevalence, and identification of risk factors for VHs in patients with infantile cutaneous hemangiomas (ICHs). Materials and methods. 6 years cross-sectional study (2012-2017) including children diagnosed with ICHs, admitted in I.N.S.M.C “Alfred-Rusescu“. All patients underwent an ultrasound screening for the detection of VHs. In order to identify possible risk factors, we collected demographic and perinatal data. Outcomes. 138 patients diagnosed with infantile cutaneous hemangiomas (ICHs) were included, with a slight predominance of girls (58%). The prevalence of the VHs in our study was 7,24% (10 patients). The liver was the most common visceral localization (7 patients). Conclusions. Female gender, preterm birth, low birth weight, and multiple gestations were described as potential risk factors for IHs. In our study, only multiple gestations tend to be associated with visceral hemangiomas, but without a significant statistical correlation

MALFORMAŢIE CEREBRALĂ EXTREMĂ – CONSIDERAŢII CLINICE ŞI ETICE PE MARGINEA UNUI CAZ

Rezumat. Hidranencefalia reprezintă una dintre malformaţiile cerebrale extrem de rară şi cu prognostic nefavorabil, cu impact psihoafectiv negativ asupra familiei şi societăţii. În mod obişnuit, cei afectaţi rămân într-o stare vegetativă permanentă şi necesită îngrijiri pe termen nelimitat. Deşi majoritatea celor afectaţi decedează în primele zile-luni de viaţă, o parte dintre ei supravieţuiesc până în decada a 2-a a 3-a de viaţă. Din punct de vedere al tratamentului, îngrijirile acordate sunt pur paliative şi sunt îndreptate spre menţinerea funcţiilor vitale. Concluzii. Hidranencefalia reprezintă o malformaţie cerebrală rară, cu prognostic rezervat şi speranţă de viaţă şi calitate a vieţii scăzute. Diagnosticul impune o serie de probleme etice. Importanţa diagnosticului prenatal se impune prin faptul că hidranencefaliare prezintă indicaţie de avort terapeutic. O altă problemă etică o ridică îngrijirile medicale acordate, ce sunt pur paliative, pacienţii fi ind în stare vegetativă permanentă. Atât instituirea tratamentului chirurgical pentru drenajul cantităţii excesive al LCR, cât şi metodele noi terapeutice descrise în literatură, de tipul coagulării endoscopice a plexurilor choroide, nu infl uenţează statusul neurologic şi dezvoltarea neuropsihomotorie a pacienţilor. Toate aceste date trebuie explicate clar aparţinătorilor, pentru a nu-şi ridica speranţe false în ceea ce priveşte evoluţia acestor bolnavi

HEMORAGIA PERI-INTRAVENTRICULARĂ LA PREMATURI: IMPORTANŢA SCREENINGULUI PRIN ECOGRAFIE TRANSFONTANELARĂ

Obiective. Hemoragiile peri-intraventriculare (HPIV) pot determina la sugarii născuţi prematur diferite grade de re tard neuropsihomotor. Un studiu prospectiv efectuat în IOMC pe o perioadă de 4 ani (2009-2012), pe un lot de 160 prematuri, a urmărit prevalenţa gradelor de HPIV diagnosticate prin ecografi e transfontanelară (ETF), identifi carea factorilor de risc asociaţi şi a severităţii afectării neurologice la aceşti pacienţi prin urmărirea lor pe o perioadă de 12 luni. Material şi metodă. Pe perioada studiului, prematurii internaţi în IOMC au fost examinaţi sistematic prin ETF, printr-un protocol standardizat; aprecierea gradelor HPIV s-a efectuat conform clasifi cării Papile. Evaluarea neurologică a fost efectuată sistematic până la vârsta de 1 an. Rezultate. Cel mai frecvent înregistrate au fost HPIV I şi II – 45%, respectiv 37,5% din numărul total de pacienţi. HPIV gradul IV au reprezentat 4,4%. În HPIV grad I şi II afectarea neurologică a fost uşoară, această corelaţie având semnifi caţie statistică (p < 0,01) pentru ambele forme. Hemoragiile gradul III şi IV au fost asociate cu o evoluţie neurologică nefavorabilă, corelaţia între HPIV grad IV şi sechelele neurologice majore având semnifi caţie statistică (p < 0,01). Concluzii. ETF efectuată de rutină tuturor prematurilor permite diagnosticul precoce şi stadializarea HPIV, aprecierea evoluţiei neurologice cu instituirea precoce a tratamentului şi asigurarea consilierii adecvate

PERI-INTRAVENTRICULAR HEMORRHAGE IN PRETERM INFANTS: THE IMPORTANCE OF SCREENING BY TRANSFONTANELLAR ULTRASOUND

Objectives. In preterm babies, peri-intraventricular hemorrahges (PIVH) might cause various degrees of neuropsycho-motor impairment. A 4-year prospective study (2009-2012) performed in the IOMC, was aimed to determine the prevalence of different degrees of PIVH diagnosed by head ultrasound (HUS) among 160 admitted preterm babies, the associated risk factors, along with the neuro-developmental effects on a 12-month follow-up period. Material and methods. In the above-mentioned period all admitted preterms were examined by transfontanelar ultrasound according to a standardized protocol based on Papile’s PIVH classifi cation. For those preterms included in the study a 12-month systematic neurologic follow-up was performed. Results. PIVH grade I (45%) and II (37,5%) were the most prevalent types. Grade IV PIVH represented 4,4% from all PIVH cases. The good neurological outcome of grade I and II PIVH, was found to be statistically signifi cant (p < 0.01) for both types. Severe neurological sequelae were associated with grade III and IV and a statistically signifi cant correlation (p<0.01) was found only for grade IV hemorrhages. Conclusion. Systematic HUS screenings for all preterm babies is useful for early diagnosis and PIVH staging, for neurologic outcome prediction, providing the appropriate management strategy and a well-suited parental counseling

GENETIC AND THERAPEUTIC NOVELTIES IN ATOPIC DERMATITIS

Atopic dermatitis (atopic eczema) is a common affection in children, characterized by exacerbations and remissions. The forms may be mild, moderate or severe, the problem of treatment is in moderate and severe forms. Fully understanding this condition can revolutionize the therapy used so far. New generations of target drugs are being studied, some of which have promising results. By reviewing these results, new research opportunities are opened up

Candidate proteomic biomarkers for non-alcoholic fatty liver disease (steatosis and non-alcoholic steatohepatitis) discovered with mass-spectrometry: a systematic review

<p><i>Context</i>: Non-alcoholic fatty liver disease (NAFLD) is characterized by lipid accumulation in the liver which is accompanied by a series of metabolic deregulations. There are sustained research efforts focusing upon biomarker discovery for NAFLD diagnosis and its prognosis in order investigate and follow-up patients as minimally invasive as possible.</p> <p><i>Objective</i>: The objective of this study is to critically review proteomic studies that used mass spectrometry techniques and summarize relevant proteomic NAFLD candidate biomarkers.</p> <p><i>Methods</i>: Medline and Embase databases were searched from inception to December 2014.</p> <p><i>Results</i>: A final number of 22 records were included that identified 251 candidate proteomic biomarkers. Thirty-three biomarkers were confirmed – 14 were found in liver samples, 21 in serum samples, and two from both serum and liver samples.</p> <p><i>Conclusion</i>: Some of the biomarkers identified have already been extensively studied regarding their diagnostic and prognostic capacity. However, there are also more potential biomarkers that still need to be addressed in future studies.</p

PREDICTION OF HIV PREVALENCE UNTIL 2022 IN ROMANIA AND THE EUROPEAN UNION

In the last decade, AIDS diagnosis has decreased, most likely through easier access to treatment and faster management of HIV infections. Due to the decrease in the number of AIDS patients, the reduction of deaths and the idea of eradication of AIDS can be considered. For all of this, we need to look at the HIV infection that causes AIDS. HIV infection at European level has been declining in recent years, yet there are still countries that continue to grow. Late diagnosis, pre-exposure prophylaxis and the lack of proper education in prevention are still a problem in some European Union countries

PROBLEMS OF DOCTOR-PATIENT COMMUNICATION IN MEDICAL PRACTICE. WAYS TO APPROACH THE PATIENT IN COMPLICATED CASES

Currently, the physician-patient relationship is a bidirectional one, the center of which is communication. Communication is no longer regarded as an option but as a necessity in the day-to-day practice of physicians. The way we use communication can make a big difference on the physician-patient relationship, on the understanding of the disease, the treatment, and on the subsequent conduct of the patient. The approach to this subject comes in the absence of formal courses for doctors in communication, a necessary and beneficial thing both for the doctor and for the patient