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Exploring the clinical spectrum of DiGeorge syndrome

2026-05-21T11:56:58Z

Title: Exploring the clinical spectrum of DiGeorge syndrome Authors: Tomacinschii, Cristina; Sacară, Victoria; Dorif, Alexandr; Laszlo, Marodi; Șciuca, Svetlana Abstract: Introduction DiGeorge syndrome, known also as 22q11.2 deletion syndrome, is a rare multisystemic disorder characterized by a wide range of clinical features and may include thymic aplasia and subsequent immunodeficiency, conotruncal cardiac anomalies, typical facial features, palatal abnormalities, and hypocalcemia due to hypoparathyroidism. Material and methods Data were collected for 10 patients genetically confirmed with DiGeorge syndrome at the Institute of Mother and Child. This included general information, laboratory results, and clinical features. Results The mean age at diagnosis was 74.6 months (3 months – 28 years). Most cases were sporadic, with only 2 patients having a history of DGS (n=1), or close relatives with cardiac malformations (n=1). The most common symptoms that led to diagnosis were congenital heart defects (90%), and facial dysmorphism (90%). Common clinical features included recurrent infections (40%) and ENT disorders (20%). Weight was within normal percentiles for the entire group, but a delay in height growth was noted. Regarding the immunological characteristics: lymphopenia was recorded in 20% of patients, and thrombocytopenia in 2 patients. Conclusions Given the diverse array of symptoms associated with DiGeorge syndrome, physicians should be knowledgeable about both typical and less common characteristics of the syndrome to facilitate optimal treatment and potentially enable early diagnosis.

Contemporary insights into diagnosis and treatment of gastrointestinal non-Hodgkin lymphomas

2026-05-20T11:21:39Z

Title: Contemporary insights into diagnosis and treatment of gastrointestinal non-Hodgkin lymphomas Authors: Musteață, Larisa; Robu, Maria; Musteață, Vasile; Urescu, Dumitrița; Cebanu, Irina; Capanji, Alina Abstract: Introduction. The gastrointestinal tract (GIT) is the most common site of extranodal primary non-Hodgkin lymphoma (NHL), accounting for 20% to 40% of all extranodal lymphomas. The advanced stages at diagnosis and complications remain significant issues in NHL management, imposing a substantial disease burden on patients and healthcare systems. Material and methods. We performed a descriptive cross-sectional and cohort study of patients with gastrointestinal NHL and a narrative review of the literature in the Discussion section. This study included 50 prospective and retrospective patients with NHL treated between 2015-2024 in the Institute of Oncology in Moldova. A bibliographic search was conducted using databases such as PubMed, Hinari, SpringerLink, the National Center for Biotechnology Information, and Medline. The final bibliography included 18 relevant sources deemed to be representative of the literature published on the topic of this article. Results. According to the International Clinical Classification, most patients (22, 44.0%) were diagnosed with clinical stage IV. B symptoms occurred in 38 (76.0%) patients. The overwhelming predominance of diffuse large B-cell lymphomas (46 cases - 90.2%) was observed. The complete blood count, bone marrow aspiration and biopsy of the iliac crest did not detect any specific changes in cases without bone marrow involvement, with the exception of a decrease in hemoglobin and erythrocyte counts observed in cases of posthemorrhagic anemia. The overall survival (OS) of all patients with gastrointestinal NHL was 78.1% at 1 year, 59.4% at 3 years, and 35.9% at 5 years. In patients with stage IE NHL, the 1-, 3-, and ≥5-year OS was 93.4%, 76.5%, and 69.9%, respectively. In patients with stage IIE, the OS was 91.2% at 1 year, 71.4% at 3 years, and 63.8% at ≥5 years. In patients with stage IIIE-IV, the OS was 75.1% at 1 year, 54.8% at 3 years, and 28.5% at ≥5 years with combined chemotherapy. Conclusions. Our study demonstrated that non-Hodgkin lymphomas with primary involvement of the gastrointestinal tract exhibited distinct histopathological, clinical-evolutionary and hematological features, which influenced treatment outcomes. The aggressive histological types and the advanced stages IIIE and IV prevailed within the structure of non-Hodgkin lymphomas with primary gastrointestinal involvement, and, thus, negatively impacted the survival and prognosis.

Invasive potential of cutaneous malignant melanoma

2026-04-27T12:47:02Z

Title: Invasive potential of cutaneous malignant melanoma Authors: Cenușa, Alexandrina; Foca, Ecaterina; Carpenco, Ecaterina; Brînza, Dumitru; David, Valeriu; Șaptefrați, Lilian; Fulga, Veaceslav Abstract: Introduction. Cutaneous malignant melanoma is the most aggressive skin cancer, with a high mortality rate despite advances in therapy. This study aimed to evaluate the relationship between lymphovascular and perineural invasion and key clinicopathological parameters in superficial spreading melanoma, in order to assess their potential prognostic significance. Materials and methods. A retrospective analysis was conducted on 47 cases of superficial spreading melanoma obtained from the Oncology Institute in Chisinau. All cases were histologically confirmed and reviewed for tumor thickness, Clark level, ulceration, mitotic activity, microsatellitosis, pigmentation, and lymph node involvement. Lymphovascular and perineural invasion were assessed using hematoxylin–eosin staining and, where available, immunohistochemistry. Correlations between invasion patterns and clinicopathologic features were analyzed using Pearson correlation coefficients, with statistical significance set at p < 0.05. Results. Lymphovascular invasion was positive and significantly correlated with tumor thickness (r = 0.54, p< 0.001), Clark level (r = 0.46, p < 0.001), microsatellitosis (r = 0.50, p < 0.001), tumor stage (r = 0.33, p = 0.01), and lymph node involvement (r = 0.29, p = 0.02). A negative correlation was observed with pigmentation (r = –0.26, p = 0.04). Perineural invasion was less frequent, but correlated positively with lymphovascular invasion (r = 0.28, p = 0.03) and showed a trend toward association with amelanotic tumors (r = –0.24, p = 0.05). No significant relationships were found with ulceration or mitotic activity. Conclusions. Lymphovascular invasion represents a significant indicator of aggressive biological behavior in superficial spreading melanoma, closely associated with established prognostic factors. Perineural invasion occurs less frequently, but may further reflect invasive potential, particularly in amelanotic variants. Routine histopathologic assessment of both invasion patterns is recommended to improve prognostic evaluation.

The role of odontogenic infection in the onset and evolution of focal disease

2026-04-06T06:43:51Z

Title: The role of odontogenic infection in the onset and evolution of focal disease Authors: Ciobanu, Sergiu; Marcu, Diana; Roman, Ion; Musteață, Olesea