Transdifferentiation of diffuse large B-cell lymphoma to a poorly differentiated neoplasm following CAR T-cell therapy.

Chimeric antigen receptor T-cell (CAR-T) therapy is a recent advancement in precision medicine with promising results for patients with relapsed or refractory B-cell malignancies. However, rare post-therapy morphologic, immunophenotypic, and genomic alterations can occur. This study is to present a case of a patient with diffuse large B-cell lymphoma (DLBCL) who underwent anti-CD19 CAR-T therapy with disease in the uterus that showed transdifferentiation to a poorly differentiated malignant neoplasm that failed to express any lineage specific markers.

A novel variant of associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism.

Pediatric cardiomyopathies (CM) are rare and challenging to diagnose due to the complex and mixed phenotypes. With the advent of next-generation sequencing (NGS), variants in several genes associated with CM have been identified, such as Troponin C (TnC), encoded by the gene. variants in have been associated with different types of CM, including dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM).

Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier.

We report a 4-month-old male proband with a history of prominent forehead, hypertelorism, ear abnormalities, micrognathia, hypospadias, and multiple cardiac abnormalities. Initial microarray analysis detected a concurrent 7p21.3-p22.

A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33).

We report a 19-year-old female patient with a history of short stature, primary ovarian insufficiency, sensorineural hearing loss, sacral teratoma, neurogenic bladder, and intellectual disability with underlying mosaicism for der(X)t(X;3)(q13.2;q25.33), a ring X chromosome, and monosomy X.

Mechanisms of mutation formation with long-wave ultraviolet light (UVA).

Long-wave ultraviolet (UV) A light is able to damage DNA, to cause mutations, and to induce skin cancer, but the exact mechanisms of UVA-induced mutation formation remain a matter of debate. While pyrimidine dimers are well established to mediate mutation formation with shortwave UVB, other types of DNA damage, such as oxidative base damage, have long been thought to be the premutagenic lesions for UVA mutagenesis. However, pyrimidine dimers can also be generated by UVA, and there are several lines of evidence that these are the most important premutagenic lesions not only for UVB- but also for UVA-induced mutation formation.

Skin ageing and wrinkles: clinical and photographic scoring.

Sunlight induces clinical, histological and physiological changes in the skin that are known as photoageing. As the population ages, prevention and treatment of photoageing is a growing challenge because of its association with skin cancer as well as for cosmetic reasons. Therefore, it is of interest to assess the degrees of photoageing by developing valid and comprehensive grading systems.

Short- and long-wave UV light (UVB and UVA) induce similar mutations in human skin cells.

While the mutagenic and carcinogenic properties of longwave UV light (UVA) are well established, mechanisms of UVA mutagenesis remain a matter of debate. To elucidate the mechanisms of mutation formation with UVA in human skin, we determined the spectra of UVA- and UVB-induced mutations in primary human fibroblasts. As with UVB, we found the majority of mutations to be C-to-T transitions also with UVA.

No major role for 7,8-dihydro-8-oxoguanine in ultraviolet light-induced mutagenesis.

Oxidative DNA damage, in particular 7,8-dihydro-8-oxoguanine (8-oxoG), has been suggested to mediate mutation formation and malignant transformation after exposure of the skin to long-wave ultraviolet (UVA) light. It is processed primarily by the base excision repair (BER) pathway. The initial step of BER is the removal of the damaged base by a damage-specific DNA-glycosylase, which is 8-oxoG DNA glycosylase (OGG1) for 8-oxoG.

The quality of human skin xenografts on SCID mice: a noninvasive bioengineering approach.

Background: Animal models are important tools for studies in skin physiology and pathophysiology. Due to substantial differences in skin characteristics such as thickness and number of adnexa, the results of animal studies cannot always be directly transferred to the human situation. Therefore, transplantation of human skin on to SCID (severe combined immunodeficiency) mice might offer a promising tool to perform studies in viable human skin without the direct need for human volunteers.

High plasma levels of 8-methoxypsoralen following bath water delivery in dermatological patients.

With respect to the clinical advantages known for bath PUVA therapy, it was of interest to compare the plasma levels of 8-methoxypsoralen (8-MOP) in bath therapy with those after oral administration for a better insight into the pharmacokinetics of 8-MOP following different modes of application. Considerable high plasma levels of 8-MOP were observed after bath therapy with interindividual variability. The half-life of plasma 8-MOP was markedly shorter after bath PUVA than after oral application.

Clinical and photographic scoring of skin aging.

Chronic exposure to sunlight induces clinical, histological and physiological changes that are described as photoaging. To assess the resulting skin changes different clinical and photographic scores have been evaluated. Regarding different scoring systems a standardized grading system would be useful in a variety of indications, in particular to improve the quality of epidemiologic and clinical studies of photodamage.

Dermatofibrosarcoma protuberans with lung metastasis in a patient with progressive systemic sclerosis.

A female patient with progressive systemic sclerosis and pulmonary fibrosis had a dermatofibrosarcoma protuberans on the right thigh. After resection of the tumor, new lesions occurred in the scar, and wide excision was repeated. Two years later, a lung metastasis was discovered, and segmental resection was done.

Tandem application of sodium lauryl sulfate and n-propanol does not lead to enhancement of cumulative skin irritation.

Irritant contact dermatitis has a broad spectrum of clinical features and is a leading cause of occupational disease worldwide. It has been shown previously that a combination of chemically different irritants may cause an additive effect compared to single application of these substances. In this study, tandem application of sodium lauryl sulfate and n-propanol was investigated in 20 human volunteers using non-invasive bioengineering methods, such as measurement of transepidermal water loss and chromametry.

Influence of age on the prognosis of renal transplant recipients.

With aging, morphologic organ changes due to arteriosclerosis, hypertension, or diabetes increase, and renal transplantation tends to become less successful. We analyzed the outcome of transplantation in 123 recipients who underwent renal transplantation between January 1988 and December 1989. We assessed patient and graft survival after 1, 5, and 6 years as well as mortality and transplant failure and the incidence of rejections.