ABSTRACT
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.
Subject(s)
Fingers , Megalencephaly , Humans , Megalencephaly/genetics , Fingers/abnormalitiesABSTRACT
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.
ABSTRACT
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.
ABSTRACT
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.
