Macrocephaly and Finger Changes: A Narrative Review.

Macrocephaly, characterized by an abnormally large head circumference, often co-occurs with distinctive finger changes, presenting a diagnostic challenge for clinicians. This review aims to provide a current synthetic overview of the main acquired and genetic etiologies associated with macrocephaly and finger changes. The genetic cause encompasses several categories of diseases, including bone marrow expansion disorders, skeletal dysplasias, ciliopathies, inherited metabolic diseases, RASopathies, and overgrowth syndromes. Furthermore, autoimmune and autoinflammatory diseases are also explored for their potential involvement in macrocephaly and finger changes. The intricate genetic mechanisms involved in the formation of cranial bones and extremities are multifaceted. An excess in growth may stem from disruptions in the intricate interplays among the genetic, epigenetic, and hormonal factors that regulate human growth. Understanding the underlying cellular and molecular mechanisms is important for elucidating the developmental pathways and biological processes that contribute to the observed clinical phenotypes. The review provides a practical approach to delineate causes of macrocephaly and finger changes, facilitate differential diagnosis and guide for the appropriate etiological framework. Early recognition contributes to timely intervention and improved outcomes for affected individuals.

The Impact of Long COVID on the Quality of Life.

Background and Objectives: The term long COVID refers to patients with a history of confirmed COVID-19 infection, who present symptoms that last for at least 2 months and cannot be explained by another diagnosis. Objectives: The present study aims to determine the most common symptoms of the long COVID syndrome and their impact on the quality of life. Materials and Methods: A prospective observational study was conducted on patients diagnosed with mild and moderate COVID-19 (based on a positive SARS-CoV-2 molecular diagnostic or rapid antigen test and severity form definition) at the Clinical Hospital of Infectious Diseases, Cluj-Napoca, Romania. Clinical examinations with detailed questions about symptoms were performed at the time of the diagnosis of COVID-19 and the six-month follow-up. Two years after COVID-19 infection, patients were invited to complete an online quality-of-life questionnaire regarding long COVID symptoms. Results: A total of 103 patients (35.92% males) with a mean age of 41.56 ± 11.77 were included in this study. Of the total number of patients, 65.04% presented mild forms of COVID-19. Data regarding the vaccination status showed that 83.5% were vaccinated against SARS-CoV-2. The most common symptoms at diagnosis were cough (80.6%), fatigue (80.4%), odynophagia (76.7%), and headaches (67.6%), with female patients being statistically more likely to experience it (p = 0.014). Patients with moderate forms of the disease had higher levels of both systolic (p = 0.008) and diastolic (p = 0.037) blood pressure at diagnosis, but no statistical difference was observed in the 6-month follow-up. The most common symptoms at 2 years (in 29 respondent subjects) were represented by asthenia (51.7%), headache (34.5%), memory disorders (27.6%), abdominal meteorism (27.6%), and arthralgia (27.6%). In terms of cardiovascular symptoms, fluctuating blood pressure values (20.7%), palpitations (17.2%), and increased heart rate values (17.2%) were recorded. Conclusions: If at the time of diagnosis, the most frequent manifestations of the disease were respiratory, together with headache and fatigue, at re-evaluation, asthenia, decreased effort tolerance, and neuropsychiatric symptoms prevailed. Regarding the cardiovascular changes as part of the long COVID clinical picture, some patients developed prehypertension, palpitations, and tachycardia.

Prevalence and Genotyping of Water- and Food-Borne Parasitic Protozoans (Giardia duodenalis and Cryptosporidium spp.) in Hospitalized Patients from Northwestern Romania.

Giardia duodenalis and Cryptosporidium spp. are important zoonotic protozoan pathogens that infect the gastro-intestinal tract of numerous vertebrates, including humans, and both parasites are responsible for water- or food-borne outbreaks of disease worldwide. Although, globally, both parasites are highly prevalent, particularly in developing countries, epidemiological data from Romania are scarce, and genotyping has rarely been performed. The aims of the present study were to investigate the occurrence and genetic diversity of G. duodenalis and Cryptosporidium spp. in patients hospitalized in Northwestern Romania in relation to clinical and paraclinical presentation and to identify the relative frequency of non-specific symptoms and potential risk factors. Between June 2022 and January 2024, 426 fecal samples were screened for gastro-intestinal parasites by rapid tests and microscopical examination, further confirmed by PCR and sequencing. Giardia duodenalis was detected and characterized in 12 samples (2.82%), while Cryptosporidium parvum was confirmed in four samples (0.94%). A majority of positive patients were symptomatic and reported nausea and vomiting with a significantly higher frequency compared to negative ones. This study provides new insights into the epidemiological status and clinical implications of gastro-intestinal parasite species and genospecies in Romania that are necessary for an in-depth understanding of the potential zoonotic transmission and improvement of patient care.

Serological evidence of human exposure to foodborne zoonotic parasites in Romanian patients and possible association with food habits and hygiene.

Humans may become accidental dead-end hosts for a series of zoonotic foodborne parasites, of which Toxoplasma gondii, Echinococcus spp., Toxocara spp., and Trichinella spiralis are of major public health interest, due to their potential pathological implications. The aims of the study were to evaluate the exposure to these pathogens in north-western Romania, and to investigate their potential association to risk factors. From June 2022 to January 2024, 554 patients admitted to a tertiary hospital in north-western Romania were screened for the presence of IgG antibodies against T. gondii, Echinococcus spp., Toxocara canis, and T. spiralis by ELISA, and potential risks were assessed using a questionnaire. Overall, 225 samples (40.6%) were positive for at least one pathogen. The highest seroprevalence for IgG was found for T. gondii (33.9%), followed by Echinococcus spp. (9.1%), T. spiralis (2.9%), and T. canis (1.1%). For T. spiralis, raw meat consumption was associated with positivity. For T. gondii, increased age, rural environment, contact with cats, consumption of unwashed fruits/vegetables and drinking water from unverified sources were significantly associated to seropositivity. The present study provides new insights into the epidemiological status of zoonotic foodborne parasite in Romania, underlining the need to increase awareness on the importance of water, sanitation and food habits in relation with this neglected pathology.

Toxoplasmosis Screening during Pregnancy in a Romanian Infectious Diseases Tertiary Center: Results of a 15 Years Follow-Up Program.

Maternal infection with Toxoplasma gondii during pregnancy may have serious consequences for the fetus. In Romania, screening for toxoplasmosis is included in the first antenatal visit. A retrospective study was performed on all toxoplasmosis antenatal screening patients between May 2008 and February 2023. Twenty-seven thousand one hundred sixty-nine (27,169) pregnant women presented for prenatal screening once (22,858) or several times: during the same pregnancy (209) or during multiple pregnancies (4102). Thirty-one thousand six hundred fifty-eight (31,658) tests for IgM and IgG antibodies were performed. Nine thousand eighty-three (9083) tests (28.69%), corresponding to 7911 women (29.12%), were positive for IgG antibodies. The seroprevalence increased with patients' age, decreased in time intervals, and was more frequently associated with rural residence. At risk for acquiring the infection during the pregnancy were women with negative anti-Toxoplasma IgG antibodies (70.88%), but only 0.9% of them presented for rescreening during the same pregnancy. Acute Toxoplasma infection (ATI) was suspected in 44 patients (0.16%) due to IgG seroconversion and/or low or borderline IgG avidity. A questionnaire follow-up interview was performed, and no congenital toxoplasmosis was identified in children born from mothers with probable ATI. Our study demonstrates poor compliance with the screening program in the Romanian population.

Evolving Clinical Manifestations and Outcomes in COVID-19 Patients: A Comparative Analysis of SARS-CoV-2 Variant Waves in a Romanian Hospital Setting.

The aim of this study was to evaluate differences in the clinical manifestations and outcomes in hospitalized patients with COVID-19 in a single Romanian center during four pandemic waves determined by different SARS-CoV-2 variants of concern (VOCs). A retrospective study on 9049 consecutive hospitalized adult patients was performed between 27 February 2020 and 31 March 2023. The study interval was divided into waves based on national data on SARS-CoV-2 VOCs' circulation. Multivariate logistic regression models were built, predicting death and complications as functions of comorbidities, therapy, wave, severity form, and vaccination status, and adjusted for ages ≥65 years. Pulmonary (pneumothorax/pneumomediastinum, pulmonary embolism) and extrapulmonary complications (liver injury, acute kidney injury, ischemic/hemorrhagic stroke, myocardial infarction, and gastrointestinal bleeding) were present, more frequently in ICU hospitalized patients and with differences between waves. The highest in-hospital mortality was found in patients presenting pneumothorax/pneumomediastinum. All of the evaluated risk factors were significantly associated with death, except for obesity and the Omicron wave. Our study highlights the changing nature of COVID-19 and acknowledges the impacts of viral mutations on disease outcomes. For all four waves, COVID-19 was a severe disease with a high risk of poor outcomes.