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gations.Factor XIII (FXIII) deficiency is one of the most severe congenital bleeding disorders, with an estimated incidence of one person per one million. Patients with severe FXIII deficiency present a wide range of clinical manifestations, including umbilical cord bleeding, intracranial haemorrhage and recurrent miscarriages. Due to the high rate of life-threatening bleeding, primary prophylaxis is mandatory from the time of diagnosis. Although replacement therapy is the most common therapeutic choice, gene therapy remains the only curative option. In the present study, we assessed the efficacy of the clustered regularly interspaced short palindromic repeats - CRISPR-associated protein 9 (CRISPR/Cas9) system in the correction of the most common FXIII disease-causing mutation (c.562 T > C). A dermal fibroblast was harvested from the human skin biopsy of a young patient with FXIII deficiency. Sanger sequencing was used to confirm the presence of c.562 T>C mutation in the patient and in the harvested fibroblasts. PX45o a homozygote wild type in transfected dermal fibroblasts of the patient. The control mutation, as an internal control, was also corrected in the same fibroblasts in the heterozygote manner. The result of the study shows that the CRISPR/CAS9 gene editing system is an effective tool for correction of point mutations in transfected fibroblasts of patients with congenital FXIII deficiency and represents a new, potentially curative, option.

To evaluate the effect of a new probiotic strain combination, Ligilactobacillus salivarius subsp infantis PS11603 and Bifidobacterium longum PS10402, on gut bacterial colonization of preterm infants.

A randomized, double-blind, placebo-controlled study was conducted in preterm infants from 28 weeks + 0days to 30 weeks + 6days of gestation. Thirty preterm infants were randomly selected after birth to receive either probiotics or placebo. Stool samples were collected before product intake and then sequentially during the first weeks of their admission. Classical microbiological, metagenomics and multiplex immunological analyses were performed to assess the bacterial and immune profile of the samples.

Twenty-seven infants completed the study (14 vs 13, probiotic and placebo groups). A higher number of participants were colonized by Lactobacilli in the probiotic group than in the placebo group (93% vs 46%; P  = 0.013). Similar results were obtained when analysing bifidobacterial colonization (100% vs 69%; Pobiotics' intake at the end of the study.

Gallbladder polyps (GPs) are a common incidental finding on ultrasound; however, important differences in recommended management exist among professional society guidelines.An electronic survey was sent to 189 fellows of the Society of Radiologists in Ultrasound. Main outcomes included preferences and current practice patterns for evaluation, management, and surveillance of GPs as well as personal lifetime experience with gallbladder sonography and GPs.A total of 64 subjects (34%) with experience in gallbladder sonography completed the study. The estimated combined total number of gallbladder scans seen by the responders was 3,071,880. None of fellows had ever seen a pedunculated GP <1 cm detected on ultrasound that was proven to be malignant at the time of detection or during subsequent follow-up. All of the fellows used size as a feature to stratify recommendations. 8-Cyclopentyl-1,3-dimethylxanthine The median size threshold currently used by Society of Radiologists in Ultrasound fellows for recommending ultrasound follow-up was 6 mm, st similar to the American College of Radiology and Canadian Association of Radiology guidelines for management of GPs. Many would prefer guidelines that result in fewer recommendations for follow-up and surgical consultation. Despite a substantial combined experience, this survey did not uncover any case of a small GP that was malignant.

To evaluate the feasibility and potential utility of contrast-enhanced ultrasound for real-time imaging of whole-brain perfusion during cardiopulmonary resuscitation (CPR), cardiac arrest was induced in 8- to 7-week-old 10-kg piglets ( Sus scrofa domesticus ). Contrast-enhanced ultrasound was performed through a parietal cranial window in the coronal plane visualizing the thalami during hemodynamic-directed CPR. Whole-brain mean and maximum pixel intensities in each slice during resuscitation were calculated. Piglets were monitored for 24 hours postarrest. Seven piglets achieved return of spontaneous circulation and 6 survived to 24 hours. Of the 6 surviving piglets, 2 piglets demonstrated greater intra-CPR brain enhancement at maximum 73.2% and 42.1% and mean 36.7% and 31.9% enhancement above background, respectively, compared with maximum 5.8%, 22.9%, 6.0%, and 26.6% and mean 5.1%, 8.9%, 2.9%, and 6.6% above background, respectively, in the other 4. Intra-CPR average mean arterial pressures were similar blet did not achieve return of spontaneous circulation and exhibited minimal enhancement at maximum 2.8% and mean 0.9% enhancement above background. Contrast-enhanced ultrasound can detect brain perfusion during CPR, identifying a spectrum of cerebral blood flow responses in the brain despite similar systemic hemodynamics. This novel application can form the basis for future large animal model studies and eventually human clinical studies to further explore the neurologic implications of cerebral blood flow responses during resuscitation and stimulate novel strategies for optimizing brain perfusion restoration.Mungbean yellow mosaic virus (MYMV) disease is a significant constraint for blackgram production. The present study employed a mapping population derived from a cross between susceptible (MDU 1) and resistant (TU 68) genotypes to identify quantitative trait loci (QTL) associated with MYMV disease resistance in addition to bruchine resistance loci identified from the previous study. Phenotyping was carried out in F2 generation under the disease spreader row method at field condition. Disease score observations were carried out 60 days after sowing (DAS). The chi-square goodness of fit test revealed inhibitory gene action with two genes controlling the expression of resistance to MYMV disease. However, QTL analysis revealed one major QTL region, i.e. qMYMVD_60 at LG 10 responsible for MYMV disease score at 60 DAS, accounted for 21 per cent of variation. The identified QTL has the flanking markers as CEDG180 and CEDG116. Hence, the QTL, qMYMVD_60 may be utilized in the breeding of MYMV disease resistance. Further, the marker-assisted introgression of both the MYMV and bruchine resistance QTLs can be performed in the near future.Origin and ancestry of the Badagas of Nilgiris, an indigenous community of Nilgiris, Tamil Nadu in India, is a controversial topic. During our massive screening for haemoglobinopathies among Badagas, we identified a rare south Indian haemoglobin variant, the haemoglobin D (Hb D) Punjab (HBB c.364G>C; rs33946267). The observed Hb D cases were double heterozygous with sickle cell trait (HbSD-Punjab) and manifested symptoms. The beta-globin distal promoter motif (-530 cap site BP1U) sequencing revealed a characteristic heterozygous combination of Arab-Indian sickle haplotype ((AT)9 (T)5) with universally common beta gene haplotype ((AT)7 (T)7). The report is a pioneer one informing the presence of Hb-D Punjab from an indigenous or aboriginal group of southern India. By the above information, we support the theory of unicentric tribal origin and distribution during Harappan civilization.Rice blast disease is found worldwide leading to economic losses. Use of resistance gene is effective to improve rice resistance variety. Therefore, to deploy genomic regions harbouring resistance genes, a population of 587 F26 recombinant inbred lines (RILs) was developed from a cross between Jao Hom Nin, a Thai black rice variety with broad-spectrum resistance to blast disease, and Kao Dawk Mali 105, a susceptible Thai jasmine variety. The RILs were challenged with 17 blast isolates collected from Thailand and Laos PDR. Quantitative trait locus analysis identified genomic regions associated with broad-spectrum quantitative resistance (qBSRLs) and racespecific quantitative resistance (qRSRLs). Two qBSRLs were detected on chromosomes 1 and 11, and two qRSRLs were detected on chromosomes 8 and 12. The two qBSRLs were introgressed into two new genetic backgrounds through marker-assisted selection (MAS). Twelve breeding lines were tested for their spectra of resistance against 35 blast isolates. The results indicated that both qBSRLs were effective in new genetic backgrounds. The flanking markers and qBSRLs identified in the large mapping population showed high selection accuracy and effectiveness, suggesting the routine deployment of MAS technique in rice breeding programmes.Controversies exist regarding the need for prophylactic extraction of mandibular third molars in patients who plan to undergo orthognathic surgery. An 18-year-old male patient was diagnosed with mandibular prognathism and maxillary retrognathism with mild facial asymmetry. He had a severely damaged mandibular first molar and a horizontally impacted third molar. After extraction of the first molar, the second molar was protracted into the first molar space, and the third molar erupted into the posterior line of occlusion. The orthognathic surgery involved clockwise rotation of the maxillomandibular complex as well as angle shaving and chin border trimming. Patients who are missing or have damaged mandibular molars should be monitored for eruption of third molars to replace the missing posterior tooth regardless of the timing of orthognathic surgery.Ductal papillomas are rare benign lesions of the salivary glands with two distinctive types, intraductal and inverted. The rarest anatomical location where intraductal papillomas occur is the major salivary glands. In the present study, we report an intraductal papilloma of the left sublingual gland with the relevant clinical, imaging, and histopathological findings and postoperative follow-up. To our knowledge, this is the fourth case of an intraductal papilloma of a sublingual gland to be reported in the international literature. We present this rare case because of its clinical and radiological imitation of a ranula.

Osteoarthritis (OA) is the most prevalent and disabling joint disease in the world. Temporomandibular joint (TMJ) exercise is a widely used treatment and could be a beneficial and long-term tool for treating TMJ OA. The present study aims to evaluate the effects of therapeutic exercise in the conservative treatment of TMJ OA.

A single-group experimental pre-post test was performed. We included patients who met the diagnostic criteria for TMJ OA. Outcome variables were pain intensity (visual analogue scale), functionality (Helkimo index), and structural changes (ultrasound). Follow-up periods were at months 1, 3, and 6. The intervention included a home-based program with thermotherapy, manual therapy, and therapeutic exercise during the entire follow-up period.

We included 15 patients and 26 joints, all women with a median age of 57 years (range, 49-62 years). Median change in pain intensity on joint palpation, mouth opening, and at rest at the first month was 47.5 mm, 51 mm, and 60 mm, respectively, and 48 mm, 49.