Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report.

BACKGROUND: Human growth hormone (hGH) plays a crucial role in growth by binding to growth hormone receptor (GHR) in target cells. Binding of GH molecules to their cognate receptors triggers downstream signaling pathways leading to the transcription of several genes, including insulin-like growth factor (IGF)-1. Pathogenic variants in the GHR gene can result in structural and functional defects in the GHR protein, leading to Laron Syndrome (LS) with the primary clinical manifestation of short stature. So far, around 100 GHR variants have been reported, mostly biallelic, as causing LS. CASE PRESENTATION: We report on three siblings from an Iranian consanguineous family who presented with dwarfism. Whole-exome sequencing (WES) was performed on the proband, revealing a novel homozygous missense variant in the GHR gene (NM_000163.5; c.610 T > A, p.(Trp204Arg)) classified as a likely pathogenic variant according to the recommendation of the American College of Medical Genetics (ACMG). Co-segregation analysis was investigated using Sanger sequencing. CONCLUSIONS: To date, approximately 400-500 LS cases with GHR biallelic variants, out of them 10 patients originating from Iran, have been described in the literature. Given the high rate of consanguineous marriages in the Iranian population, the frequency of LS is expected to be higher, which might be explained by undiagnosed cases. Early diagnosis of LS is very important, as treatment is available for this condition.

Resilient and social health service network design to reduce the effect of COVID-19 outbreak.

With the severe outbreak of the novel coronavirus (COVID-19), researchers are motivated to develop efficient methods to face related issues. The present study aims to design a resilient health system to offer medical services to COVID-19 patients and prevent further disease outbreaks by social distancing, resiliency, cost, and commuting distance as decisive factors. It incorporated three novel resiliency measures (i.e., health facility criticality, patient dissatisfaction level, and dispersion of suspicious people) to promote the designed health network against potential infectious disease threats. Also, it introduced a novel hybrid uncertainty programming to resolve a mixed degree of the inherent uncertainty in the multi-objective problem, and it adopted an interactive fuzzy approach to address it. The actual data obtained from a case study in Tehran province in Iran proved the strong performance of the presented model. The findings show that the optimum use of medical centers' potential and the corresponding decisions result in a more resilient health system and cost reduction. A further outbreak of the COVID-19 pandemic is also prevented by shortening the commuting distance for patients and avoiding the increasing congestion in the medical centers. Also, the managerial insights show that establishing and evenly distributing camps and quarantine stations within the community and designing an efficient network for patients with different symptoms result in the optimum use of the potential capacity of medical centers and a decrease in the rate of bed shortage in the hospitals. Another insight drawn is that an efficient allocation of the suspect and definite cases to the nearest screening and care centers makes it possible to prevent the disease carriers from commuting within the community and increase the coronavirus transmission rate.

Evaluation of the anesthetic effect of nasal mucosa with tetracaine 0.5% on hemodynamic changes and postoperative pain of septoplasty: A randomized controlled trial.

The nasal septum repair surgery is the dangerous operations that any stimulation of this area causes a large change in the rhythm of the heartbeat and blood pressure. This study aimed to determine the effects of tetracaine 0.5% on changes in heartbeat and heart rhythm, hemodynamic changes during surgery, intraoperative bleeding, and pain after septoplasty surgery. The irregular double-blind clinical trial registry of clinical trials Iran with the code number (IRCT: 20150526625N8) in the first half of 2013 on 86 patients in Kashani hospital of Shahrekord. Having selected and matched the patients were divided into two groups. Case group was dropped tetracaine 0.5% in each of the nasal cavity 15 min before the beginning of the operation. The control group was dropped distilled water 15 min preoperation in each of the nasal cavity. The surgery lasted about 30-60 min. Clinical symptoms were evaluated after anesthetic induction as well as pain using the visual analog scale after the operation, in the recovery room. The collected data were analyzed using SPSS version software 17 through independent t-test, Chi-square, and repeated measures variance analysis. Postoperative pain intensity in the experimental group compared to the control group was significantly lower than the control group (P < 0.05); however, blood pressure and heart rate during anesthesia, there was no difference between groups (P > 0.05). Based on the findings, intake of tetracaine drop 0.5% has no impact on some hemodynamic changes during septoplasty operation. However, compared with the control group, pain was significantly reduced.