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Due to substantial development in emerging economies over the last three decades, climate complexities are increasing which have posed serious threats to environmental quality and sustainability. To this end, eco‐innovation, green trade openness (GTO), and carbon price have been recognized as effective tools for environmental mitigation and promotion of green growth (GG) in the core of COP 26, Sustainable Development Goals 2030, and Carbon Neutrality by 2060. Considering this, the aim of this study is to investigate the influence of eco‐innovation, GTO, and carbon price on GG and low‐carbon emissions in emerging economies over the period 1996–2021. The current study provides a standard green Solow growth model by introducing a new GG index using the entropy weight method. This index incorporates 30 indicators across five dimensions which emphasizes the essential roles of the investigated factor. Additionally, the current study provides a new index for GTO utilizing an extensive green trading basket of 255 commodities. Due to the cross‐sectional dependency, and slope heterogeneity in the models, this study used dynamic heterogeneous panel data estimation techniques that is, cross‐sectional based augmented nonlinear autoregressive distributed lag, and nonlinear augmented mean group to probe the asymmetric effects. The outcomes from the empirical analysis reveal that positive shocks in environmental innovation, GTO, carbon price, and green energy mitigate carbon emissions and promote green economic growth while the negative shocks in these variables cause environmental degradation and reduce GG in emerging economies. Finally, from policy insight, this study suggests that policy makers in emerging economies should invigorate GTO, stimulate environmental innovation and green energy, implement carbon price mechanisms, and establish a balance between environmental protection and economic growth. [ABSTRACT FROM AUTHOR]

A family of Pakistani origin, segregating polydactyly, and phalangeal synostosis in an autosomal dominant manner, has been investigated and presented in the present report. Whole‐exome sequencing (WES), followed by segregation analysis using Sanger sequencing, revealed a heterozygous missense variant [c.G1696A, p.(Gly566Ser)] in the LRP4 gene located on human chromosome 11p11.2. Homology protein modeling revealed the mutant Ser566 generated new interactions with at least four other amino acids and disrupted protein folding and function. Our findings demonstrated the first direct evidence of involvement of LRP4 in causing polydactyly and phalangeal synostosis in the same family. This study highlighted the importance of inclusion of LRP4 gene in screening individuals presenting polydactyly in hands and feet, and phalangeal synostosis in the same family. [ABSTRACT FROM AUTHOR]

Objective: To evaluate and present the effectiveness of this innovatively designed, elastic locking intramedullary nail (ELIN) in fixation of clavicle fractures. Methods: The study included 38 patients from July 2014 to July 2017. All of them received intramedullary fixation treated with ELIN, 22 were males and 16 females. The mean age of the patients was 54 years. There were twenty right‐side and 18 left‐side clavicular fractures. Radiographs were taken to assess the fracture type: 21 were type A, 16 type B, and one type C. General anesthesia or cervical block was given to all patients. A small incision of 3–5 cm was given only to those who needed mini‐open reduction. The administration of ELIN and reduction of the fracture was made sure with a C arm machine. After a follow‐up of 8 to 33 months, the clinical outcomes were assessed and evaluated. The constant scores and disabilities of the arm, shoulder and hand questionnaire (DASH) were used to determine the outcomes and functional status of the patients. The study was done accordingly to the guidelines provided by the ethics committee. Results: Mean operation time was 25.63 min. Mean follow‐up time was 16.5 months. The rate of closed reduction and open reduction was 84% and 16% respectively. There was no shortening of the clavicle. There was no breakage of the nail, though bending of the nail occurred in one patient. Superficial skin infection occurred in three patients at insertion points or the nail tip which was embedded subcutaneously. Skin erosion with nail exposure occurred in a patient with no significant infection. All the other patients had excellent shoulder function. A mini scar was observed in seven patients all the other patients had no scar. Asymmetry was observed in three patients. The mean Constant score was 98.47 and the mean DASH score was 1.55 at the last follow‐up. The implant was removed in all the patients. Conclusion: Clavicular fractures treated with ELIN is minimally invasive, which presents a safe and novel surgical technique with less complications and a high success rate, excellent aesthetic and quick recovery after surgery. ELIN restores the micro‐dynamic stress at the fracture ends and promotes fracture healing, keeps intact the fracture hematoma and maintains the blood supply, accelerates healing and thus leads to faster osseous healing and better restoration of clavicle length. [ABSTRACT FROM AUTHOR]

Skeletal dysplasias are a heterogeneous group of disorders presenting mild to lethal defects. Several factors, such as genetic, prenatal, and postnatal environmental may contribute to reduced growth. Fourteen families of Pakistani origin, presenting the syndromic form of short stature either in the autosomal recessive or autosomal dominant manner were clinically and genetically investigated to uncover the underlying genetic etiology. Homozygosity mapping, whole exome sequencing, and Sanger sequencing were used to search for the disease‐causing gene variants. In total, we have identified 13 sequence variants in 10 different genes. The variants in the HSPG2 and XRCC4 genes were not reported previously in the Pakistani population. This study will expand the mutation spectrum of the identified genes and will help in improved diagnosis of the syndromic form of short stature in the local population. [ABSTRACT FROM AUTHOR]

The ubiquitin‐proteasome system is an important regulatory machinery involved in proteostasis and cellular signaling. Proteins are ubiquitinated via the concerted action of E1 ubiquitin‐activating enzymes, E2 ubiquitin‐conjugating enzymes, and E3 ubiquitin ligases. Although most of the studies to date focus on the significance of E3 ubiquitin ligases in disease development and therapeutic treatment, recent discoveries suggest that E2 ubiquitin‐conjugating enzymes might also be potential drug targets. The ubiquitin‐conjugating enzyme E2 O (UBE2O), an E3‐independent E2 (i.e. an E2/E3 hybrid enzyme), can directly mediate the ubiquitination of many substrates. These include 5′‐AMP‐activated protein kinase catalytic subunit α2 (AMPKα2), tumor suppressor ubiquitin carboxyl‐terminal hydrolase BAP1, mixed‐lineage leukemia (MLL) protein, SMAD family member 6 (SMAD6), transcription factor c‐Maf and aryl hydrocarbon receptor nuclear translocator‐like protein 1 (ARNTL or BMAL1), and free ribosomal proteins, which are ubiquitinated in distinct ways, thereby associating UBE2O with a variety of biological functions. Furthermore, UBE2O is frequently amplified or mutated in multiple cancers, and its high expression is associated with low survival rate of gastric, lung, breast, and prostate cancer patients. However, the molecular mechanisms by which UBE2O contributes to tumor initiation and progression are not fully elucidated. This review focuses on emerging insights from genetics, biochemistry, and cell biology to explore the biological functions of UBE2O and its therapeutic potential. [ABSTRACT FROM AUTHOR]

Objective: Angle stable interlocking intramedullary nail (ASIN), a novel technique, has rarely been used for treatment of tibial plateau fractures (TPF). This retrospective study was designed to introduce this novel technique, ASIN, as well as to describe the initial experience and verify the effectiveness when ASIN was used for the management for TPF. Methods: A cohort of 19 cases with closed TPF aged from 18–70 years with at least 23 months follow‐up from November 2008 to September 2013 was analyzed retrospectively. All patients underwent the ASIN procedure, which was performed by the same group of surgeons. Perioperative and postoperative parameters like the measurement of radiographic pictures, surgical data, and clinical function were recorded including the changes in treatment. A modified Hohl–Luck radiological and functional score combined with the Hospital for Special Surgery (HSS) score were applied to evaluate the final results and to provide reliable data through the whole procedure when applying the ASIN procedure. Results: The patients were followed up regularly for an average of 26.3 (range, 23–34) months. All patients achieved a bony union at an average of 15.1 weeks with no incidences of malunion, nonunion, or infection. Anatomical reduction of the articular surface was obtained in 16 patients. No secondary failure of fixation occurred. The mean postoperative knee flexion was 122.9°. The modified Hohl–Luck radiological and functional score was excellent and good, respectively, in 16 patients. The mean HSS score was 89.4. Conclusion: The angle stable interlocking intramedullary nail system turned out to be a viable alternative protocol in the treatment of tibia plateau fractures and provided satisfactory results, with good fracture reduction, biomechanical fixation, low rates of complications, and passable postoperative knee function. [ABSTRACT FROM AUTHOR]

Atrichia with papular lesions (APL) is a hair abnormality characterized by loss of hair on the scalp and rest of the body. In a few cases, hair loss is accompanied by the appearance of keratotic papules on the body. It is inherited in an autosomal recessive manner. Sequence variants in the HR (hairless) gene are responsible for this hair abnormality. Here, we present nine consanguineous families and one nonconsanguineous family with clinical manifestations of APL. Whole exome followed by Sanger sequencing and/or direct Sanger sequencing was performed to identify pathogenic variants. The study revealed seven novel pathogenic variants c.794del;p.(Pro265Argfs*98), c.2921-2936del;p.(Tyr974Leufs*16), c.2889C>A;p.(Cys963*), c.2689C>T;p.(Gln897*), c.3186_3187dup;p.(Gln1063Profs*43), c.560dup;p.(Tyr188Ilefs*131), c.2203+5G>C, c.2776+5G>A, and the previously reported variant c.1837C>T;p.(Arg613*) in HR in these families. The study not only expands the mutational spectrum in the HR gene but also highlights the unusual phenotypic findings and will facilitate genetic counseling of families with members showing various types of hair loss disorders in the local population., (© 2024 Japanese Dermatological Association.)