PEX6 Mutation in a Child with Infantile Refsum Disease-A Case Report and Literature Review.

The aim of this paper is to describe the temporal progression and clinical picture of a 2-year-old child with infantile Refsum disease, as well as the diagnostic procedures performed; this case presented multiple hematologic, metabolic, and developmental complications and progressive disabilities. Genetic testing revealed a mutation of the PEX6 (Peroxisomal Biogenesis Factor 6) gene, and the metabolic profile was consistent with the diagnosis. Particularly, the child also presented altered coagulation factors and developed a spontaneous brain hemorrhage. The clinical picture includes several neurological, ophthalmological, digestive, cutaneous, and endocrine disorders as a result of the very long chain fatty acid accumulation as well as secondary oxidative anomalies. The study of metabolic disorders occurring because of genetic mutations is a subject of core importance in the pathology of children today. The PEX mutations, difficult to identify antepartum, are linked to an array of cell anomalies with severe consequences on the patient's status, afflicting multiple organs and systems. This is the reason for which our case history may be relevant, including a vast number of symptoms, as well as modified biological parameters.

The Effects of the COVID-19 Pandemic on Mental Health: A Web-Based Study Among Romanian Adults.

Background In Romania, as in other parts of the world, the family doctor is the first to make contact with a healthy patient and is also the first to notice even the smallest pathological changes. In the context of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, the patient's communication with the family doctor became even closer and some behavioral changes could be easily noticed. Objective To assess the symptoms of anxiety and depression in the Romanian population using social media platforms in the context of the COVID-19 pandemic. Methods We conducted an anonymous, web-based cross-sectional survey consisting of 31 questions related to general characteristics (age, gender, education, inhabitancy, residence, smoking status, and alcohol consumption) and adapted GAD-7 (7-item General Anxiety Disorders questionnaire) and PHQ-9 (9-item Patient Health Questionnaire). This questionnaire was sent to volunteers in an electronic format through a social network (Facebook, Twitter). The data collected were statistically processed using IBM SPSS v25.0 (IBM Corp., Armonk, NY). The inclusion criteria were age over 18 years and no history of chronic disease. The exclusion criteria consisted of the absence of a mental illness diagnosis. Results From the 1254 respondents, 1232 cases were selected for statistical analysis after applying the exclusion criteria. The mean age was 35.94 (SD = 11.4, 95%CI=10.9-11.9) with a minimum of 18 years and a maximum of 97 years. Eighty-four point nine percent (84.9%; N=1046) of all study participants are female and 79.13% (N= 975) live in the urban area. A total of 188 (15.25%) were diagnosed with COVID-19 of which 31 (16.66%) were male and 157 (15%) were female. N=170 (13.8%) reported moderate symptoms of anxiety during the last two weeks before the survey while N=96 (7.8%) had severe anxiety. Twenty-two point two percent (22.2%; N=274) of the participants reported moderate symptoms of depression while 10.1% (N=125) had moderately severe symptoms and 6.6% (N=81) could be diagnosed with severe depression. A greater likelihood of screening for depression diagnosis was associated with ages between 25 and 34 years (OR=0.90, 95%CI=0.86-0.94, P<.001), 35 and 44 years (OR=0.88, 95%CI=0.84-0.93, P<.001), and 45 and 54 years (OR=0.87, 95%CI=0.82-0.92, P<.001). Also, a tendency was observed for women to be more prone to high levels of anxiety (OR=1.21, 95%CI=1.08-1.35, P< .001) and depression (OR=2.16, 95%CI=1.51-308, P< .005). Conclusions Regarding the high prevalence of depression and anxiety, especially in women, appropriate measures for the risk categories should be applied. In the new social context created by the COVID-19 pandemic, screening for psychiatric and psychological disorders should be performed by telemedicine.

[Correlations between the level of bacterial resistance and the rate of clinical efficiency in the therapy of community-acquired respiratory tract infections]. / Corelatii intre nivelul rezistentei bacteriene si rata de succes clinic in terapia infectiilor de tract respirator comunitare.

The aim of the study is to evaluate the efficiency of the first-line antibiotic treatment of the community-acquired respiratory tract infections in a population of young adults from an urban setting and to establish the pattern of antibiotic resistance of the germs involved. The bacteria most frequently identified have been: S. pneumoniae, H. influenzae, M. catarrhalis, atypical agents also being suspected. Antibiotic treatment has been chosen accordingly to the recent guidelines, total clinical remission rate being of 91.08%, despite the increasing resistance for the commonly used antibiotics; a close monitoring of the phenomenon is mandatory.

[Clinical and epidemiologic aspects of attention deficit hyperactivity syndrome (ADHD) in ambulatory practice]. / Aspecte clinice si epidemiologice ale sindromului hiperkinetic cu deficit de atentie (ADHD) în practica de ambulator.

The purpose of the study was to determine the prevalence and to describe the clinical presentations of Attention Deficit Hyperkinetic Syndrome in the pediatric patients of the Outpatient Specialty Clinic of the "Sf. Spiridon" University Hospital of Iasi (a pediatric neuro-psychiatry practice and a general pediatric practice). The studied group consisted of 51 children and adolescents ages 2 years 6 month-18 years of age (urban environment 34 children--66%, rural environment 17 children--34% ; male gender 36 children--70%, female gender 15 children--30%). The pediatric patients represented a prevalence of 1.9% of the Attention Deficit Hyperkinetic Syndrome having the main features: motor and psychological instability, lack of attention, negativism, impulsivity, and social and school integration difficulties. The existence in 40% of cases of family problems (couple pathology, parents with psychiatric disorders, alcoholism, etc) proves the importance of the family patterns description in the apparition and evolution of Attention Deficit Hyperkinetic Syndrome. The study performed underlines the existence of the Attention Deficit Hyperkinetic Syndrome, the necessity of multi-disciplinary intervention with the purpose of precise and on-time diagnosis of this syndrome, to ensure a better integration of these children and teenagers in the social and school environment.