Rare case

Congenital factor VII deficiency is a rare disease. Inhibitor development in congenital factor VII deficiency is an extreme rare phenomen, as the main challenge of replacement therapy by a high rate of life-threatening bleeding, that renders replacemrnt therapy less effective.

4p viwalton 29-06-2024 1 1   Download

The disease occur in children under 12 months [2]. This is a rare form of infection in Vietnamese infants. The key features of presentation were acute onset of bilateral cranial nerve palsies and symmetrical descending weakness in the absence of fever

6p viwalton 29-06-2024 3 1   Download

Splenic ectopic pregnancy is extremely rare but carries a high risk of life-threatening intraperitoneal bleeding. Here, we present a 40-year-old woman presenting with vaginal bleeding. Although the intrauterine device (IUD) had been in place for 6 years, urinary and serum tests were positive for pregnancy.

6p vikoch 27-06-2024 3 1   Download

This report describes a rare case of pancreatic metastasis in a 56-year-old woman with a past medical history of malignancy. The patient initially presented with right breast cancer in 2008, which was treated with a modified radical mastectomy followed by adjuvant chemotherapy.

8p vikoch 27-06-2024 2 1   Download

Grynfelt’s lumbar hernia, from the author who first described it in 1866, is the rarest among all hernias of the abdominal wall and it represents, in the treatment technique depends on the size of herniation, the dimension of hernia orifice, and the clinical condition when a patient is diagnosed.

6p vikoch 27-06-2024 2 1   Download

Vulvar and vaginal melanoma (VuM & VaM) is a rare gynecologic malignancy with high mortality but low effectiveness to checkpoint immunotherapy compared to cutaneous melanoma. This article aims to elucidate the role of the disordered immune microenvironment in cancer progression in VuM.

12p vikoch 27-06-2024 2 1   Download

Duodenal diverticulum is a relatively common finding that can be incidentally found in upper gastrointestinal endoscopy in up to 20% of cases. Most duodenal diverticula are asymptomatic, and perforation of a duodenal diverticulum is extremely rare.

4p viambani 21-05-2024 3 1   Download

A multi-disciplinary approach to promote engagement, inform decision-making and support clinicians and patients is increasingly advocated to realise the potential of genome-scale sequencing in the clinic for patient benefit. Here we describe the results of establishing a genomic medicine multi-disciplinary team (GM-MDT) for case selection, processing, interpretation and return of results.

12p vibransone 28-03-2024 2 2   Download

Whole-exome sequencing (WES) has become an efficient diagnostic test for patients with likely monogenic conditions such as rare idiopathic diseases or sudden unexplained death. Yet, many cases remain undiagnosed. Here, we report the added diagnostic yield achieved for 101 WES cases re-analyzed 1 to 7 years after initial analysis.

8p vibransone 28-03-2024 3 2   Download

Clear cell renal cell carcinoma (ccRCC) is the dominant subtype of renal cancer. With currently available therapies, cure of advanced and metastatic ccRCC is achieved only in rare cases. Here, we developed a workflow integrating different -omics technologies to identify ccRCC-specific HLA-presented peptides as potential drug targets for ccRCC immunotherapy.

24p vibransone 28-03-2024 2 1   Download

The purpose of study "Sustainable supply chain management in smart city design: A case study of Al Khobar city centre" is to analyze the impact of supply chain management (SCM) on smart city development. More specifically, we investigate the connections between smart cities, and supply network characteristics (supply network structure and governance mechanisms). Urban spaces, which have high acoustic quality, are a rare resource that must be protected to achieve the sustainable urban development as well as health and comfort of the urban space users.

18p longtimenosee07 29-03-2024 6 2   Download

Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and more.

10p vioraclene 31-03-2024 8 2   Download

Integrating rare variation from trio family and case–control studies has successfully implicated specific genes contributing to risk of neurodevelopmental disorders (NDDs) including autism spectrum disorders (ASD), intellectual disability (ID), developmental disorders (DDs), and epilepsy (EPI). For schizophrenia (SCZ), however, while sets of genes have been implicated through the study of rare variation, only two risk genes have been identified.

22p vioraclene 31-03-2024 5 2   Download

Precision medicine approaches are ideally suited for rare tumors where comprehensive characterization may have diagnostic, prognostic, and therapeutic value. We describe the clinical case and molecular characterization of an adolescent with metastatic poorly differentiated carcinoma (PDC).

17p vioraclene 31-03-2024 8 1   Download

Lymphoma represents a heterogeneous group of cancers affecting the lymphatic system, encompassing nonHodgkin lymphoma (NHL) and Hodgkin lymphoma (HL). The majority of NHL cases originate from B cells. HL is characterized by the presence of rare Hodgkin and Reed-Sternberg cells. Within the context of the inflammatory response, two SH2 domain-containing protein tyrosine phosphatases (SHPs), namely SHP-1 and SHP-2, serve as negative regulators.

6p viellison 28-03-2024 2 2   Download

Chylous fistula is a rare complication following renal surgery, especially partial nephrectomy due to renal cell cancer. A unified treatment guideline for this complication is currently unavailable.

5p vilarry 12-03-2024 4 2   Download

Abdominal ectopic pregnancy is a rare form of ectopic pregnancy, and there are a few cases of colonic implantation reported in the literature. In this report, we describe a unique instance of transverse colonic large hematocele associated with degressive ectopic pregnancy.

4p vilarry 12-03-2024 4 2   Download

Symptomatic pituitary metastasis is rare; furthermore, it can result in diabetes insipidus and panhypopituitarism. Since diabetes insipidus is masked by concurrent panhypopituitarism, it can impede the diagnosis of pituitary dysfunction.

6p vigojek 02-02-2024 4 1   Download

Cervical thymoma is a rare thymic epithelial neoplasm. Evidence supports an increased risk of second primary malignancies in patients with thymoma. We report a rare case of a patient with synchronous cervical thymoma and diffuse large B-cell lymphoma.

6p vigojek 02-02-2024 5 1   Download

Glioblastoma belongs to the most common and most aggressive tumor entity of the central nervous system with a poor prognosis of only few months. Once manifested, it grows fast and diffusely by infiltrating the surrounding brain parenchyma. Despite its aggressive behavior, glioblastoma rarely presents with multiple lesions and metastasis to intra- and extracranial tissues.

7p vigojek 02-02-2024 4 1   Download