Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice.

Several different mutations in the proteome of centriole 1 centriolar protein B (POC1B) have been linked to cone dystrophy or cone-rod dystrophy (CORD). However, mutations in POC1B that are associated with both CORD and oligoasthenoteratozoospermia (OAT) have not been reported previously. Here, whole-exome sequencing was performed to identify a homozygous frameshift variant (c.151delG) in POC1B in the two brothers who had been diagnosed with both CORD and OAT from a consanguineous family. Transcript and protein analyses of biological samples from the two patients carrying the variant showed that POC1B protein is lost in sperm cells. The system CRISPR/Cas9 was utilized to create poc1bc.151delG/c.151delG knock-in (KI) mice. Notably, poc1bc.151delG/c.151delG KI male mice presented with OAT phenotype. Additionally, testicular histology and transmission electron microscopy analysis of the testes and sperm indicated that Poc1b mutation results in abnormal formation of acrosomes and flagella. Collectively, according to our experimental data on human volunteers and animal models, biallelic mutations in POC1B can cause OAT and CORD in mice and humans.

Magic Angles and Fractional Chern Insulators in Twisted Homobilayer Transition Metal Dichalcogenides.

We explain the appearance of magic angles and fractional Chern insulators in twisted K-valley homobilayer transition metal dichalcogenides by mapping their continuum model to a Landau level problem. Our approach relies on an adiabatic approximation for the quantum mechanics of valence band holes in a layer-pseudospin field that is valid for sufficiently small twist angles and on a lowest Landau level approximation that is valid for sufficiently large twist angles. It provides a simple qualitative explanation for the nearly ideal quantum geometry of the lowest moiré miniband at particular twist angles, predicts that topological flat bands occur only when the valley-dependent moiré potential is sufficiently strong compared to the interlayer tunneling amplitude, and provides a convenient starting point for the study of interactions.

The clinical effectiveness and safety of Zone III REBOA for resection of sacropelvic tumors in patients older than 70 years.

BACKGROUND: REBOA is a method used to manage bleeding during surgery involving sacropelvic tumors. Nevertheless, studies on the use of REBOA among elderly people are lacking. The aim of this research was to investigate the efficacy and safety of Zone III REBOA in patients aged more than 70 years. METHODS: A comparative study was conducted using case-control methods. A group of patients, referred to as Group A, who were younger than 70 years was identified and paired with a comparable group of patients, known as Group B, who were older than 70 years. Continuous monitoring of physiological parameters was conducted, and blood samples were collected at consistent intervals. RESULTS: Totally, 188 participants were enrolled and received REBOA. Among the 188 patients, seventeen were aged more than 70 years. By implementing REBOA, the average amount of blood loss was only 1427 ml. Experiments were also conducted to compare Group A and Group B. No notable differences were observed in terms of demographic variables, systolic blood pressure (SBP), arterial pH, lactate levels, blood creatinine levels, potassium levels, or calcium levels at baseline. Additionally, after the deflation of the REBOA, laboratory test results, which included arterial pH, lactate, potassium concentration, calcium concentration, and blood creatinine concentration, were not significantly different (P > 0.05). CONCLUSION: This study indicated that in selected patients aged more than 70 years can achieve satisfactory hemodynamic and metabolic stability with Zone III REBOA. LEVEL OF EVIDENCE: Therapeutic study, Level III.

Surgical treatment of benign osteolytic lesions in the femoral head and neck: a systematic review.

BACKGROUND AND OBJECTIVES: Treatment of benign osteolytic lesions in the femoral head and neck can be extremely challenging, particularly in children with open physis or for aggressive tumors with pathological fracture. There remains the difficult management decision as to whether to perform complete excision of the involved area or only curettage. Moreover, there is no agreed consensus on the optimal approach to lesion access when performing curettage, which included the transcervical, open and direct approach. The current systematic review aims to provide guidance for selection of surgical methods in clinical practice by comparing the advantages and drawbacks of different procedures. METHODS: A comprehensive literature search of PubMed, Embase and Web of Science databases were executed for human studies restricted to the English language. The search was filtered to include studies published from January 1980 to January 2020. RESULTS: A total of 33 articles including 274 patients were enrolled in the final analysis. The most common diagnosis was chondroblastoma (CBT) (104, 38.0%), followed by giant cell tumor (GCT) (56, 20.4%). There were 57 (20.8%) patients with pathological fracture. Intralesional curettage was performed in 257 (93.8%) patients with the local recurrence of 12.5% at the mean follow-up of 51.5 months. The patients who were presented with open physis or curetted via transcervical approach developed higher local recurrence in patients with CBT (P < 0.001). The local recurrence rate of GCT is 33.3% after curettage, while 8 of 9 (88.9%) patients with fracture were treated successfully with joint preservation. Two of 45 (4.4%) patients developed avascular necrosis (AVN) of femoral head after surgical hip dislocation. The reported Musculoskeletal Tumor Society (MSTS) Score was comparable among patients with different approaches to curettage. CONCLUSION: The majority of benign osteolytic lesions in the femoral head and neck can be treated with intralesional curettage with acceptable local tumor control and satisfactory function. The incidence of local recurrence might be decreased dramatically for lesion access under direct visualization. The native joint maintenance could be achieved even in patients with aggressive lesions presenting pathological fracture.

The CmbZIP1 transcription factor of chrysanthemum negatively regulates shoot branching.

The basic region/leucine zipper (bZIP) transcription factors play key roles in regulating diverse biological processes in plants. However, their participation in shoot branching has been rarely reported. Here, we isolated a CmbZIP1 transcription factor gene, a member of the bZIP family, from chrysanthemum. Subcellular localization analysis indicated that CmbZIP1 is a nuclear protein. Tissue-specific expression analysis indicated that CmbZIP1 was principally expressed in apical bud and axillary bud. Expression patterns analysis results showed that CmbZIP1 expression was suppressed in axillary buds in response to decapitation but increased in response to shade. Overexpression of CmbZIP1 in Arabidopsis inhibits its shoot branching. In addition, expression of auxin efflux protein PIN-FORMED 1 (PIN1) and auxin signaling components AUXIN RESISTANT 1/3 (AXR1, AXR3) were significantly up-regulated in overexpressing plants in comparison with wild type plants. Moreover, the transcript expression of BRANCHED 2 (AtBRC2) was also significantly up-regulated in overexpressing plants compared with the wild type. Altogether, these results suggest important and negative roles of CmbZIP1 in shoot branching. Our study extends the understanding of the function of bZIP transcription factors in plants and provides valuable gene resources for improving the architectural traits of ornamental plants.