Whole Exome Sequencing of Non-Syndromic Hearing Loss Patients.

Background: Hearing loss is the second most common disease after mental retardation in Iran. Autosomal recessive non-syndromic hearing loss (ARNSHL) is an extreme and highly heterogeneous disease, for which more than 70 genes have been identified. Considering the frequency of family marriage as well as the importance of ARNSHL in Iran, we evaluated the genetic factors involved in this type of deafness. Methods: We performed the whole exome sequencing (WES) of eight Iranian subjects with severe nonsyndromic hearing loss selected from 110 well-characterized subjects with non-syndromic hearing loss from 2017-2019. The patients with mutated GJB2 and GJB6 genes were excluded from the study. Results: The use of the whole exome sequencing method revealed 10 different mutations in 7 genes, including SLC26A4 (c.1234G>T), FGF3 (c.45DelC, c.466T>C), ADGRV1 (c.12528-2A>C, c.16226-16227insAGTC), OTOG (c.7454delG), OTOF (c.3570+2T>C), ESPN (c.992G>A), OTOA (c.2359G>T, c.2353A>C). Seven new variants were observed in seven families including SLC26A4 (c.1234G>T), FGF3 (c.45DelC), ADGRV1 (c.12528-2A>C), OTOG (c.7454delG), ADGRV1 (c.16226-16227insAGTC), OTOF (c.3570+2T>C). Conclusion: The causal mutation of ARNSHL was found in all patients using the WES. Meta-analysis studies can help to identify common mutations causing deafness in any population to facilitate identification of carriers and subjects with deafness.

Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran.

BACKGROUND: In the present study, we investigate the prevalence of the GJB2 gene mutations, and deletions in the GJB6 gene, namely del (GJB6-D13S1830) and del (GJB6-D13S1854), in patients with autosomal recessive non-syndromic hearing loss (ARNSHL) from the central region of Iran. METHODS: One hundred and thirty-one unrelated ARNSHL cases from the central part of Iran were recruited. Among them, 81% (106 cases) had at least two affected relatives. Coding and noncoding regions of the GJB2 gene were sequenced. Multiplex PCR was used for analysis of del (GJB6-D13S1830) and del (GJB6-D13S1854) deletions in GJB6. RESULTS: The GJB2 variants were found in 16.79% (22/131) of the patients. The pathogenic variants were 21/131 (16.03%). The nonpathogenic variants were 1/131 (0. 07%). Allele frequency of the c.35delG as the pathogenic variant was the most common with 59.52% (25/42). The remaining pathogenic variants were c.235delC, p.T8M, p.R32H, p.R143Q, p.R143W, c-23+1G>A. The only nonpathogenic variant was polymorphism p.V27I. Further segregation analysis showed that variant of p.R143Q might have incomplete penetrance. None of the patients had targeted deletions in the GJB6 gene. CONCLUSION: In comparison with reports from other areas of Iran, c.35delG demonstrates the highest frequency within the central region (accounting for 57.14% of cases), probably resulting from the founder effect and consanguineous marriage. The pathology of ARNSHL in such patients could be attributed to defects in Connexin 26 encoded by GJB2.

Diagnosis and treatment of disseminated intravascular coagulation: a case report.

Disseminated intravascular coagulation is a pathologic syndrome with different medical disorders. Diagnosis and treatment of this syndrome is one of the difficult managements in medical science. Thromboelastogram is the only guide for early diagnosis and precise management of this syndrome. We describe a patient who developed disseminated intravascular coagulation due to endocarditis and spleen abscess. She was diagnosed by thromboelastography and treated successfully.

Evaluating the relationship between arterial blood pressure changes and indices of pulse oximetric plethysmography.

UNLABELLED: The finger plethysmographic waveform of pulse oximeters is a qualitative indicator of fingertip perfusion. This waveform has been used to assess the depth of anesthesia. Its cyclical changes associated with mechanical ventilation have also been used to detect changes in blood volume under normotensive conditions and has revealed that minimal normotensive hypovolemia can cause a significant increase in the delta-down component of this waveform. Hypovolemia may be associated with hypotension; the latter may be due to causes other than hypovolemia. Because the effects of the hypotension on plethysmographic waveform have not been evaluated, it may be difficult to detect hypovolemia in these conditions by inspecting a plethysmogram. Therefore, we performed this study to evaluate the effect of normovolemic hypotension on characteristics of plethysmographic waveform in 33 adult patients undergoing general anesthesia with controlled hypotension. The delta-down and ventilatory systolic variation components were increased significantly with decreases in systolic blood pressure. The result of this study shows that the effect of pharmacologic hypotension on the plethysmographic waveform of pulse oximeter is similar to that of minimal hypovolemia. Therefore, blood volume may be inaccurately assessed by the inspection of ventilatory-induced cyclical changes of pulse oximetric waveform in the presence of hypotension. IMPLICATIONS: The cyclical respiratory-induced changes in the amplitude of the pulse oximeter waveform can be used to detect normotensive hypovolemia. This study shows that hypotension produces the same effect. Therefore, in hypotensive conditions, we cannot determine the presence of hypovolemia.