Barth syndrome: a rare cause of cardiomyopathy in neonates.

Barth syndrome (BTHS) is one of the rare X linked recessive diseases that appear in infancy with a triad of myocardial and skeletal muscle diseases, neutropenia and growth retardation. The pathogenic variant of gene leads to BTHS, which encodes the TAFAZZIN protein of the inner membrane of the mitochondria, a phosphatidyltransferase involved in cardiolipin remodelling and functional maturation. We present a case of a neonate presenting with early-onset cardiomyopathy, neutropenia and failure to thrive with no family history of cardiac diseases.

L-tyrosine for treatment of an infant with nemaline rod myopathy.

Nemaline rod myopathy is an extremely rare muscle disease responsible for hypotonia and poor muscle strength in infants. The disease has variable phenotypic presentations across different ages, ranging from neonatal to the adult onset and from severe to asymptomatic varieties. Clinical features, muscle biopsy and genetic testing help in diagnosis.

Surface-modified injectable poly(ethylene-glycol) diacrylate-based cryogels for localized gene delivery.

Lentiviral transduction is widely used in research, has shown promise in clinical trials involving gene therapy and has been approved for CAR-T cell immunotherapy. However, most modifications are doneand rely on systemic administration of large numbers of transduced cells for clinical applications. A novel approach utilizingbiomaterial-based gene delivery can reduce off-target side effects while enhancing effectiveness of the manipulation process.

Acellular scaffold-based approach for in situ genetic engineering of host T-cells in solid tumor immunotherapy.

Background: Targeted T-cell therapy has emerged as a promising strategy for the treatment of hematological malignancies. However, its application to solid tumors presents significant challenges due to the limited accessibility and heterogeneity. Localized delivery of tumor-specific T-cells using biomaterials has shown promise, however, procedures required for genetic modification and generation of a sufficient number of tumor-specific T-cells ex vivo remain major obstacles due to cost and time constraints.

Gelatin Methacryloyl Based Injectable Cryogels with Tunable Degradability for Cell Delivery.

Scaffold-based cell delivery can improve therapeutic effects of transplanted cells in cell therapy. Biomaterial scaffolds serveas niche for cell growth and proliferation which improves cell survival and overall function post cell delivery. In this study, gelatin methacryloyl based injectable scaffolds made using poly(ethylene)glycol as a sacrificial polymer and cryogelation as a technique, are demonstrated to have tunable degradability and porosity that is required for cell and drug delivery applications.

An interplay of matrix stiffness, dimensionality and adhesivity on cellular behavior.

Cell-based assays are essentialtools for understanding basic cell biology, pathophysiology of diseases and mechanism of drug actions most cancer studies have utilized two-dimensional (2D) cell culture methods, which have their shortcomings including lack of cell- extracellular matrix interactions and three-dimensional (3D) geometry, and inaccurate representation of cell polarity. Hence, 3D matrices are being increasingly used to study the effect of 3D niche on cell behavior. Till date, very few systematic studies have been done to show comparison of cell behavior when seeded on the surface and encapsulated inside the matrix.

Efficient in situ gene delivery via PEG diacrylate matrices.

For diseases related to genetic disorders or cancer, many cellular therapies rely on the ex vivo modification of cells for attaining a desired therapeutic effect. The efficacy of such therapies involving the genetic modification of cells relies on the extent of gene expression and subsequent persistence of modified cells when infused into the patient's body. In situ gene delivery implies the manipulation of cells in their in vivo niche such that the effectiveness can be improved by minimizing post manipulation effects like cell death, lack of persistence, etc.

Metaplastic breast carcinoma: a case report and systematic review of the literature.

A 78-year-old retired woman was diagnosed with metaplastic breast carcinoma (MBC), a rare tumor, in our hospital. We reviewed 15 articles with a total of 1328 patients to determine the epidemiology, clinical features, biomarkers, histology, management and outcome of patients with this tumor. The mean age at presentation is 58.

Secondary chondrosarcoma in an enchondroma in a proximal phalanx of toe. A diagnostic problem. A case report.

The authors present a case of secondary chondrosarcomatous transformation in enchondroma in toe. The authors have discussed the available literature to throw light on differentiation of benign and malignant form.

Benign multicystic peritoneal mesothelioma associated with hydronephrosis and colovesical fistula formation: report of a case.

Mesotheliomas usually arise from the pleura and are malignant. We report an unusual case of benign peritoneal mesothelioma presenting in a 59-year-old woman. The disease resulted in bilateral hydronephrosis, colovesical fistula formation, recurrent small bowel obstruction and chronic abdominal pain.

Coexistence of carcinoma and tuberculosis in one breast.

Background: The coexistence of breast cancer and tuberculosis is very rare. This can create a dilemma in the diagnosis and treatment as there are no pathognomonic symptoms or signs to distinguish both diseases.

Case Presentation: A female patient was seen in the breast clinic for a right breast lump.

Combined endocrine and exocrine tumours of the pancreas.

Background: Cystic neoplasms of the pancreas comprise 10%-15% of pancreatic cystic lesions, with the serous cystadenoms being the commonest. The association of exocrine and endocrine tumours of the pancreas unrelated to Von Hipple Lindau disease is very rare. Very few cases have been reported in the literature.