Journal of Medicine and Life最新文献

Empty Sella Syndrome (ESS) is characterized by a herniation of cerebrospinal fluid into the pituitary fossa, frequently causing pituitary dysfunction. Although ESS is generally asymptomatic, it can lead to progressive hormonal deficiencies. Long-term studies of pituitary function in patients with ESS are lacking. This study aimed to evaluate pituitary function in ESS patients, monitor the progression of hormone deficiencies, and explore the impact of gender, age, and body mass index (BMI). This is a descriptive and analytical study involving 41 patients diagnosed with ESS and treated at our university hospital between 2014 and 2024. All patients underwent MRI and endocrine testing for cortisol, thyrotropin, free thyroxine, prolactin, growth hormone, gonadal hormones, and testosterone. The median duration of follow-up was 5 years, with a range of 6 months to 10 years. Data was collected and analyzed using SPSS version 21. At diagnosis, 82.9% of patients had at least one pituitary hormone deficiency, primarily in the adrenal, gonadal, and growth hormone axes. Women were more likely to develop gonadal dysfunction (34.1%) than men (21.9%). A positive correlation between age and adrenal/gonadal insufficiency was observed. Additionally, a significant association was found between higher BMI and gonadal insufficiency, highlighting the role of obesity in exacerbating pituitary dysfunction. ESS is commonly linked to pituitary dysfunction, particularly in the adrenal and gonadal axes. Gender, age, and BMI influence the development and progression of hormonal deficiencies, underscoring the need for regular endocrine evaluation and long-term follow-up in these patients.

Hereditary elliptocytosis (HE) is a genetic red blood cell disorder characterized by elliptical-shaped cells. Clinical manifestations range from asymptomatic cases to severe hemolysis and are influenced by underlying gene mutations, including those in spectrin alpha, erythrocytic 1 (SPTA1). This case report examines whether zygosity of the mutation correlates with clinical severity. The case involved a comprehensive diagnostic approach including complete blood count, peripheral blood smear, sodium dodecyl sulfate-polyacrylamide gel electrophoresis, and whole exome sequencing using the CentoXome MOx Solo platform (CENTOGENE, Rostock, Germany). The analysis focused on coding regions and adjacent intronic nucleotides of genes associated with known phenotypes, specifically looking at the correlation between mutation zygosity and clinical severity. The patient, a 10-year-old Saudi male, presented with mild normocytic normochromic anemia and signs of extravascular hemolysis. A significant percentage of elliptocytes was noted on the blood smear. Genetic analysis revealed a homozygous likely pathogenic variant in the SPTA1 gene, specifically NM_003126.2.779T>C (p. Leu260Pro). This mutation is associated with autosomal recessive HE, suggesting a possible correlation between homozygosity and a more pronounced clinical presentation. Identifying a rare homozygous mutation in the SPTA1 gene confirms the diagnosis of autosomal recessive HE in a Saudi Arabian pediatric patient. It suggests a correlation between homozygosity and the severity of anemia and hemolysis.

There is a paucity of evidence regarding whether the effective outcomes of arthrocentesis in the management of temporomandibular joint disorders (TMJD) result from its use as a single treatment or in association with adjunctive therapy. The study aimed to compare arthrocentesis alone (ACA) and arthrocentesis (AC) associated with adjunctive therapy (AAAT) to determine the most effective treatment strategy. A systematic review was conducted in September 2023 using PubMed/MEDLINE, Scopus, Web of Science, and the Cochrane Oral Health database. Outcomes assessed included pain, maximal interincisal opening (MIO)/maximum mouth opening (MMO), and joint sounds. A total of 28 studies comprising 1,216 patients treated with ACA or AAAT were included. Across these studies, 31 temporomandibular disorder diagnoses were reported, with temporomandibular joint osteoarthritis (TMJ-OA) being the most common (32.3%), followed by temporomandibular joint internal derangement (TMJ-ID) (19.4%) and disc displacement without reduction (DDwoR) (12.9%). Comparisons showed no significant differences between ACA and arthrocentesis combined with hyaluronic acid (AC + HA) or corticosteroids (AC + CS) in most studies. Arthrocentesis combined with platelet-rich plasma (AC + PRP) was superior to ACA but generally less effective than arthrocentesis combined with PRP and HA (AC + PRP + HA). The benefit of adjunctive therapy after AC remains controversial; however, an additional effect of two different adjunctive modalities after AC seems evident.

According to WHO statistics, stillbirths represent an incompletely elucidated, partially neglected problem, resulting in millions of pregnancies per year globally. This phenomenon has a major emotional impact on parents and society, as well as an additional economic effort on the part of health services. Stratification of high-risk pregnancies could be followed by a decrease in perinatal mortality through careful monitoring and possible obstetric interventions in selected cases. Identification of risk factors, assessment of genetic causes, planning of imaging monitoring strategy, cardiotocography, and therapeutic management can contribute to a decrease in the number of stillbirths. In this narrative review, we aimed to assess the current status of fetal and maternal surveillance in high-risk pregnancies and the role of identifying fetal movements associated with the risk of stillbirth. Recommendations for routine monitoring of fetal movement are warranted in high-risk pregnancies, particularly those with placental pathology or small for gestational age (SGA)/FGR (fetal growth restriction) assessed by ultrasound or by analysis of various biomarkers. Current methods for fetal movement counting do not demonstrate high sensitivity and specificity, underscoring the need for further research. Identifying the main risk factors for stillbirth and stratifying fetuses at high risk will contribute to improving mater-nal-fetal outcomes and better management of health system resources.

Thoracic surgery encompasses a broad spectrum of procedures with varying levels of risk. Preoperative imaging plays a critical role in evaluating anatomical pathology, but its predictive value for postoperative complications remains underexplored. This study aimed to assess whether specific radiologic features identified before surgery can predict key adverse outcomes, including ICU admission, in-hospital mortality, and length of hospital stay. We conducted a retrospective cohort study of 227 adult patients who underwent thoracic surgeries, including lobectomy, esophagectomy, thymectomy, and mediastinotomy, between 2019 and 2024. Preoperative imaging findings from chest radiographs, CT, PET-CT, MRI, and bronchoscopy were coded and analyzed. Outcomes included ICU admission, in-hospital mortality, and hospitalization duration. Univariate and multivariate logistic regressions were used to assess associations between imaging features and outcomes. Non-parametric tests and visual network plots were also applied. Common imaging findings included emphysema (29.1%), pleural effusion (12.8%), and nodules/metastases (7.9%). ICU admission occurred in 15% of patients, and in-hospital mortality occurred in 7.5%. Certain radiologic features, such as mediastinal lymphadenopathy (OR = 2.03) and nodules/metastases, showed a trend toward increased ICU admission. Conversely, features like bronchogram and no abnormalities were associated with a lower risk. Visual network analyses supported these trends. Preoperative imaging features, particularly those related to mediastinal or tumor burden, may offer predictive value for identifying patients at elevated postoperative risk. Incorporating radiologic markers into preoperative assessment could improve surgical planning and triage for intensive monitoring.

The aim of this study was to compare leiomyoma infarction rates and embolization success using pelvic MRI following uterine artery embolization (UAE) using non-spherical polyvinyl-alcohol particles (nsPVA) or tris-acryl-gelatin microspheres (TAGM). A retrospective analysis was performed in 141 patients (mean age, 38 years) who underwent standard bilateral UAE with either nsPVA (n = 80) or TAGM (n = 61). Embolization success was defined as complete infarction of all discernible fibroids. Mann-Whitney U and independent-sample t-test were used to compare data types. A binary logistic regression was performed. 556 fibroids were evaluated, with a median uterine volume of 435 cm³ and a median dominant fibroid volume of 110 cm3. There were no significant differences between the two groups regarding baseline characteristics, including age (P = 0.446), uterine volume (P = 0.148), dominant myoma volume (P = 0.124), and non-infarcted myoma number (P = 0.092). The tumor infarction rate in the nsPVA and TAGM groups was 74% (251/337) and 79% (174/219), respectively, which was approximately similar (P = 0.191). Likewise, embolization success was similar among both groups (67.5% vs. 72.1% for nsPVA and TAGM, respectively, P = 0.589). There was an inverse relationship between the number of preliminary non-infarcted myomas and embolization success rate (P = 0.035). This study assessed the availability and side effects of these two substances, and patients underwent a 6-month follow-up MRI to evaluate possible consequences. According to post-embolization MRI, the leiomyoma infarction and embolization success rates for nsPVA and TAGM were similar. The decrease in uterine and myoma volumes was analogous to both drugs.

Epistaxis is one of the most frequent ENT emergencies, with complex etiologies ranging from local trauma to systemic conditions. This retrospective study analyzed 1,173 patients who presented with epistaxis at a tertiary ENT center over 5 years. Of these, 260 required admissions. The most common triggering factors were hypertension, anticoagulant/antiaggregant therapy, and postoperative complications. A significant portion (38.46%) of cases were idiopathic. Recurrent bleeding was often associated with high blood pressure and male gender, particularly in the 61-70-year age group. Hereditary hemorrhagic telangiectasia was diagnosed in 11 patients, all requiring repeated interventions. Most anterior nasal bleedings had a good response to conservative measures. Posterior or severe cases of epistaxis may require surgical interventions such as cauterization or argon plasma coagulation. The purpose of this paper is to highlight the importance of individualized management, taking into account the location, etiology, and severity. Proper control of cardiovascular comorbidities and careful postoperative monitoring are essential to reducing recurrence and complications associated with epistaxis.

Mini-implants (MIs) with untreated surfaces are conventionally retained solely through mechanical forces, without any secondary retention mechanism involved (osseointegration). A previously reported issue is the fracture of untreated surface MIs during removal, after orthodontic treatment. Several factors, including potential osseointegration, may cause these fractures. The current research investigates the possibility of osseointegration of untreated surface MIs using three consecutive techniques: removal torque (Tq) measurement using a customized device, immediately followed by spectroscopy analyses (EDX/EDS-Energy Dispersive X-ray Spectrometry and Scanning electron microscopy-SEM), as well as several histological methods to detect the presence of newly-formed bone-cells, which were seen as an indicator for osseointegration. This observational study involved the analysis of removed untreated surface MIs from patients (with a mean age of 21.58 years and a median value of 17 years) at the end of the MI treatment phase. While the EDS, SEM technique, and analysis of removal Tq suggested the presence of osseointegration on the surface of the MIs, the histological methods disproved these results.

Brain metastases from breast cancer represent a serious complication, associated with reduced survival and impaired quality of life. Increased patient survival and the limited ability of the blood-brain barrier to be crossed by systemic therapies have led to a rising incidence of these lesions. The molecular profile of metastases may differ from that of the primary tumor in approximately 29% of cases, significantly influencing the choice of targeted treatment. In this retrospective study, we included 100 women who underwent craniotomy for breast cancer brain metastases between 2015 and 2020 at the Prof. Dr. Nicolae Oblu Neurosurgery Clinic, Iași. We recorded demographics (age, residence), latency from primary diagnosis to brain metastasis, and MRI features (number, location, edema, hemorrhage). Histopathology and immunohistochemistry included GATA3, CK5/6, ER, PR, HER2, and Ki-67 using standardized protocols. ER/PR positivity was defined as ≥1% nuclear staining; HER2 was scored 0-3+ per ASCO/CAP; Ki-67 was reported as a percentage index. The most frequent metastatic subtypes were HER2-positive (32%) and triple-negative (25%). The mean Ki-67 index was 48.2% and showed a significant inverse correlation with the time from primary breast cancer diagnosis to brain metastasis (r = -0.57; P < 0.001). Higher Ki-67 values were associated with hemorrhagic lesions, while lower values occurred in solitary metastases. Patients receiving hormonal therapy had longer median survival (29.5 months) compared to those receiving targeted therapy (11.9 months; P < 0.001). Immunohistochemical profiling of brain metastases from breast cancer, focusing on ER, PR, HER2, and Ki-67, revealed specific correlations between tumor proliferation, time to metastasis, and neuroimaging features such as hemorrhage and lesion location. HER2-positive and triple-negative subtypes showed higher brain metastatic potential and poorer outcomes with targeted therapy, while luminal tumors responded better to hormonal treatment. The inverse correlation between Ki-67 and metastasis latency, as well as its association with aggressive imaging phenotypes, represents an original contribution of this study, underscoring the need for tailored therapeutic strategies based on combined pathological and imaging data.