Is cryotherapy effective in all women with low-grade cervical intraepithelial neoplasia?

OBJECTIVE: This study was designed to investigate the incidence the premalignant and malignant cervical lesions at the 12-month follow-up investigation between cryotherapy and non-cryotherapy groups. PATIENTS AND METHODS: A prospective cohort study was performed in women with CIN 1 and PCB, who were referred to the gynecology clinic at Imam Hospital affiliated to Mazandaran University of Medical Sciences (MAZUMS), Sari, Iran, from February 2015 to November 2019. Of 232 patients, 131 consented to cryotherapy and underwent the treatment, while 101 were unwilling to undergo the treatment. After 12 months, we performed a Pap smear, a colposcopy, and a histopathological investigation of the cervix in both groups. Primary and secondary outcomes were compared between groups. The primary outcome was the comparison of incidence premalignant and malignant cervical lesions in cryotherapy and non-cryotherapy groups. The secondary outcome was a comparison of the accuracy of the Pap smear test versus colposcopy for the detection of premalignant and malignant cervical lesions in women with or without a history of cryotherapy. PATIENTS: Totally, abnormal cytological, positive colposcopic, and positive histopathological findings were reported in 41.56%, 20.26%, and 13.79 %, respectively. By histology biopsy, premalignant and malignant cervical lesions were reported in 28.24% (37/131) and 36.63% (32/101) of women in the cryotherapy and the non-cryotherapy group, respectively. This statistic did not differ significantly between groups (p = 0.78). Pap smears were abnormal in 39.7% and 44.5% of women in the cryotherapy and the non-cryotherapy group, respectively. A positive colposcopy was obtained in 27 (20.6%) and 19 (18.8%) women in the cryotherapy and the non-cryotherapy group, respectively. The diagnostic accuracy of the Pap smear test and colposcopy in detecting cervical neoplasia did not differ in women who had undergone cryotherapy and those who had not (p>0.05). CONCLUSIONS: This prospective study showed that cryotherapy is no appropriate treatment for patients with CIN1 and PCB.

Improvement of mechanical properties of HfB2-based composites by incorporating in situ SiC reinforcement through pressureless sintering.

HfB2, Si, and activated carbon powders were selected to fabricate 0-30 vol% SiC reinforced HfB2-based composite. Pressureless sintering process was performed at 2050 °C for 4 h under a vacuum atmosphere. Microstructural studies revealed that in situ SiC reinforcement was formed and distributed in the composite according to the following reaction: Si + C = SiC. A maximum relative density of 98% was measured for the 20 vol% SiC containing HfB2 composite. Mechanical investigations showed that the hardness and the fracture toughness of these composites were increased and reached up to 21.2 GPa for HfB2-30 vol% SiC and 4.9 MPa.m1/2 for HfB2-20 vol% SiC, respectively. Results showed that alpha-SiC reinforcements were created jagged, irregular, and elongated in shape which were in situ formed between HfB2 grains and filled the porosities. Formation of alpha-SiC contributed to improving the relative density and mechanical properties of the composite samples. By increasing SiC content, an enhanced trend of thermal conductivity was observed as well as a reduced trend for electrical conductivity.

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

Approximately 1% of the global population is affected by intellectual disability (ID), and the majority receive no molecular diagnosis. Previous studies have indicated high levels of genetic heterogeneity, with estimates of more than 2500 autosomal ID genes, the majority of which are autosomal recessive (AR). Here, we combined microarray genotyping, homozygosity-by-descent (HBD) mapping, copy number variation (CNV) analysis, and whole exome sequencing (WES) to identify disease genes/mutations in 192 multiplex Pakistani and Iranian consanguineous families with non-syndromic ID. We identified definite or candidate mutations (or CNVs) in 51% of families in 72 different genes, including 26 not previously reported for ARID. The new ARID genes include nine with loss-of-function mutations (ABI2, MAPK8, MPDZ, PIDD1, SLAIN1, TBC1D23, TRAPPC6B, UBA7 and USP44), and missense mutations include the first reports of variants in BDNF or TET1 associated with ID. The genes identified also showed overlap with de novo gene sets for other neuropsychiatric disorders. Transcriptional studies showed prominent expression in the prenatal brain. The high yield of AR mutations for ID indicated that this approach has excellent clinical potential and should inform clinical diagnostics, including clinical whole exome and genome sequencing, for populations in which consanguinity is common. As with other AR disorders, the relevance will also apply to outbred populations.