Fanconi anemia (FA) is a hereditary genomic instability disorder with a predisposition to leukemia and oral squamous cell carcinomas (OSCCs). Hematopoietic stem cell transplantation (HSCT) facilitates cure of bone marrow failure and leukemia and thus extends life expectancy in FA patients; however, survival of hematologic malignancies increases the risk of OSCC in these patients. We developed a “cytology-on-a-chip” (COC)–based brush biopsy assay for monitoring patients with oral potentially malignant disorders (OPMDs). Using this COC assay, we measured and correlated the cellular morphometry and Minichromosome Maintenance Complex Component 2 (MCM2) expression levels in brush biopsy samples of FA patients’ OPMD with clinical risk indicators such as loss of autofluorescence (LOF), HSCT status, and mutational profiles identified by next-generation sequencing. Statistically significant differences were found in several cytology measurements based on high-risk indicators such as LOF-positive and HSCT-positive status, including greater variation in cell area and chromatin distribution, higher MCM2 expression levels, and greater numbers of white blood cells and cells with enlarged nuclei. Higher OPMD risk scores were associated with differences in the frequency of nuclear aberrations and differed based on LOF and HSCT statuses. We identified mutation of FAT1 gene in five and NOTCH-2 and TP53 genes in two cases of FA patients’ OPMD. The high-risk OPMD of a non-FA patient harbored FAT1, CASP8, and TP63 mutations. Use of COC assay in combination with visualization of LOF holds promise for the early diagnosis of high-risk OPMD. These minimally invasive diagnostic tools are valuable for long-term surveillance of OSCC in FA patients and avoidance of unwarranted scalpel biopsies.

INTRODUCTIONThe term diabetes mellitus (DM, derived from Greek words meaning -Siphon and sweet) refers to a group of common metabolic disorders that share the phenotype of hyperglycemia which results from reduced insulin secretion and/or action, decreased glucose utilization, and increased glucose production. Incidence of diabetes is increasing worldwide due to population ageing and growth, obesity, unhealthy diets and sedentary life style. Microvascular and macrovascular complications of diabetes increase as a function of the duration of hyperglycemia. So, a reduction of chronic hyperglycemia prevents or delays these complications. 1Magnesium is an essential element and has a fundamental role in carbohydrate metabolism in general and in the insulin action in particular. Magnesium is a cofactor in ABSTRACT Background: Hypomagnesemia has been proposed as a novel factor implicated in the pathogenesis of poor glycemic control and diabetic complications. Aim of the present study is to study serum magnesium level in patients with type 2 DM and to find the correlation between serum magnesium levels, HbA1c and diabetic complications. Methods: 100 patients with Type 2 DM (50 males and 50 females) who were diagnosed on the basis of ADA criteria or taking treatment for Diabetes were included in the study. All patients underwent tests for serum magnesium level, fasting blood sugar, postprandial blood sugar, HbA1c and also target organ evaluation for Diabetes. A detailed history and examination was also done. Results: There was significant difference in the prevalence of hypomagnesemia (34% versus 6%) and serum magnesium levels (1.59±0.187 versus 1.78±0.126, p <0.0001) between diabetics and control group. FBS (172.17±30.55 versus 137.06±37.76, p<0.0001), PPBS (243±61.21 versus 195.84±59.1, p = 0.0003) and HbA1C (8.42±1.292 versus 7.04±0.956, p<0.0001) were significantly higher in hypomagnesemic diabetics as compared to normomagnesemic diabetics. Significant proportion of hypomagnesemic diabetics were suffering from retinopathy as compared to normomagnesemic diabetics (47.06% versus 19.70%, p = 0.0042). Diabetic nephropathy, neuropathy, hypertension and IHD were also higher in hypomagnesemic diabetics as compared to normomagnesemic diabetics, but insignificant. Conclusions: Prevalence of hypomagnesemia in Type 2 diabetics was 34%. Diabetics with hypomagnesemia had poor glycemic control. Hypomagnesemia was significantly associated with diabetic retinopathy.