ABSTRACT
OBJECTIVE: Genetic diseases are an important cause of neonatal and childhood mortality. For couples with a history of demise of previous children, screening for carrier status can be done by exome sequencing (ES) of the parents. Our aim was to describe the clinical utility of "targeted parental ES" in such couples and to assess the utility of reanalysis of parental ES data. METHOD: We analyzed previous records, including ES reports, of 52 families with demise of previous offspring with a suspected genetic disorder. We also retrieved and reanalyzed raw data of parental ES in FASTQ format from the testing lab. RESULTS: A potential diagnosis was obtained in 30/52 (57.7%) of couples. We found 38/70 (54.3%) novel variants in this cohort. Shared carrier status for more than one autosomal or X-linked recessive disorder was identified in 18% of couples. Reanalysis of raw data resulted in a reclassification of variants in 15% of cases. CONCLUSION: Targeted parental ES can be helpful for families with demise of previous offspring with a suspected genetic disorder.
Subject(s)
Exome , High-Throughput Nucleotide Sequencing , Child , Infant, Newborn , Humans , Retrospective Studies , Parents , Exome Sequencing , Genetic Testing/methodsABSTRACT
Background Cancer patients are not routinely assessed for thyroid function after external beam radiotherapy (EBRT) to the neck, despite hypothyroidism being a known side effect of EBRT. So, this study aimed to assess the incidence of hypothyroidism after therapeutic external beam radiotherapy to the neck and to determine the time for the development of hypothyroidism. Methodology A non-randomized prospective comparative study was done at a tertiary care center from April 2018 to September 2020. Any cancer patients who were euthyroid before radiotherapy and are planned to receive EBRT to the neck were included as cases, whereas controls were selected from the patients who were euthyroid before radiotherapy and were planned to receive EBRT to the site other than the neck. A total of 100 participants in each case and control group were selected. Data were collected on participants' age, gender, primary tumor site, treatment modality, total radiation dose along with concurrent chemoradiation regimens. Details of blood chemistry including thyroid hormone levels were collected during the pre-radiation phase and post-radiation phase. After the completion of radiotherapy, both the patients and controls were followed up periodically at three months, six months, nine months, 12 months, and finally at 15 months post-radiation. Data were analyzed and interpreted to pursue defined objectives by using tables and graphs using Microsoft Excel and IBM SPSS, version 26.0 (Armonk, NY: IBM Corp.). The chi-square test was applied to find out the association of different variables with the development of hypothyroidism. P-values<0.05 were considered significant throughout. Results According to our findings, the incidence of hypothyroidism following external beam radiotherapy to the neck where radiation portals included a portion or the entire thyroid gland was 16% and 4%, when the radiation given to sites other than neck region. The difference in incidence between the case and control groups was found to be statically significant (p<0.05). However, it was found that age, gender, the primary tumor site, total radiation dose, and treatment modality had no significant effects on hypothyroidism development. The median time duration to become hypothyroid after EBRT was 12 months. Conclusions The monitoring of thyroid function should become a part of routine follow-up procedures in all cancer patients who receive neck radiation as part of their treatment.
ABSTRACT
Mycosis fungoides is a rare form of non-Hodgkin's lymphoma, which is formed of mature, skin homing, clonal, malignant T lymphocytes. It can sometimes present with skin ulcers that are difficult to heal because of the presence of large number T lymphocytes and antigen-presenting cells. We present a case of nonhealing ulcers in a patient with mycosis fungoides, which was treated by narrow band ultraviolet B targeted phototherapy followed by split-thickness skin grafting. The graft uptake was well and the donor area also healed without any complications.
