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JOURNAL ARTICLE
Mikael Aseged Shimekit, Ermias Fikru Yesuf, Simon Mulugeta Teferi, Mahlet Getachew Lemma
BACKGROUND: Lipomyelomeningocele associated with an ulnar club hand in the spectrum of VACTERL association ([costo-]vertebral abnormalities; anal atresia; cardiac defects; tracheal-esophageal abnomalities, including atresia, stenosis, and fistula; renal and radial abnormalities; limb abnormalities; single umbilical artery) is a very rare and infrequently reported phenomenon. Within the fat mass of the lipoma, it is not common to find a well-defined cartilaginous mass with no attachments to the surrounding tissue...
April 29, 2024: J Neurosurg Case Lessons
#2
REVIEW
Yì Xiáng J Wáng, Daniele Diacinti, Maria Pilar Aparisi Gómez, Fernando Ruiz Santiago, Fabio Becce, Alberto Stefano Tagliafico, Mahesh Prakash, Amanda Isaac, Danoob Dalili, James F Griffith, Giuseppe Guglielmi, Alberto Bazzocchi
When a low-energy trauma induces an acute vertebral fracture (VF) with clinical symptoms, a definitive diagnosis of osteoporotic vertebral fracture (OVF) can be made. Beyond that, a "gold" radiographic standard to distinguish osteoporotic from non-osteoporotic VFs does not exist. Fracture-shaped vertebral deformity (FSVD) is defined as a deformity radiographically indistinguishable from vertebral fracture according to the best of the reading radiologist's knowledge. FSVD is not uncommon among young populations with normal bone strength...
April 25, 2024: Skeletal Radiology
#3
JOURNAL ARTICLE
Zhiqing Wang, Xiaowei Zhong, Xi Lu, Jianing Shi, Weiyun Shi, Can Zhao, Ting Wang
PURPOSE: This study is to evaluate the correlation between retrobulbar perfusion deficits and glaucomatous visual field defects. METHODS: Eighty-four patients with glaucoma and 17 normal subjects serving as controls were selected. Color Doppler imaging (CDI) was used to measure the changes in blood flow parameters in the retrobulbar ophthalmic artery (OA), central retinal artery (CRA), and short posterior ciliary arteries (SPCAs). Visual field testing was performed using a Humphrey perimeter, categorizing the visual field deficits into four stages according to the Advanced Glaucoma Intervention Study (AGIS) scoring method...
April 8, 2024: Graefe's Archive for Clinical and Experimental Ophthalmology
#4
Ali Alsuheel Asseri, Ahmad A Alzoani, Mohammed Almahdi, Hussein Almahdi, Nouf Almushayt, Noha Saad Alyazidi, Basmah Mohammed Al Mufarrih
Jeune syndrome, or asphyxiating thoracic dystrophy (JATD), is a rare autosomal recessive skeletal dysplasia with heterogeneous genetic and clinical phenotypes, which primarily affects cartilage and bone development. Herein, we report a patient with a lethal form of SRTD3 without polydactyly (JATD), which led to severe restrictive lung disease and fatal respiratory failure. A full-term boy was born to a 30-year-old mother who was known to have hypothyroidism and was on thyroxine. The parents were first-degree cousins and had one healthy older son...
2024: International Medical Case Reports Journal
#5
JOURNAL ARTICLE
I N Gasparyan, A G Levshin, O N Ivashova, N F Deniskina, Sh V Gasparyan
The development of potato plants during the cultivation of two crops occurs in a short period. At the same time, field conditions change and do not repeat over time. The formation of the crop during the cultivation of two crops in the Moscow region turns out to be in different growing conditions: the first crop falls on a long day and moderate temperatures, as well as sometimes returning frosts, the second crop falls on a short day and high temperatures, as well as a lack of moisture. The purpose of our research was to substantiate the choice of varieties for cultivation of two crops...
2024: Brazilian Journal of Biology
#6
JOURNAL ARTICLE
John Kappelman, Lawrence C Todd, Christopher A Davis, Thure E Cerling, Mulugeta Feseha, Abebe Getahun, Racheal Johnsen, Marvin Kay, Gary A Kocurek, Brett A Nachman, Agazi Negash, Tewabe Negash, Kaedan O'Brien, Michael Pante, Minghua Ren, Eugene I Smith, Neil J Tabor, Dereje Tewabe, Hong Wang, Deming Yang, Solomon Yirga, Jordan W Crowell, Matthew F Fanuka, Teshager Habtie, Jayde N Hirniak, Carla Klehm, Natalia D Loewen, Sahleselasie Melaku, Sierra M Melton, Timothy S Myers, Sarah Millonig, Megan C Plummer, Keenan J Riordan, Nicholas A Rosenau, Anne Skinner, Abraham K Thompson, Lindsey M Trombetta, Adrienne Witzel, Ephrem Assefa, Maria Bodansky, Ayenachew A Desta, Christopher J Campisano, Daniel Dalmas, Connor Elliott, Metasebia Endalamaw, Nicholas J Ford, Frederick Foster, Tomas Getachew, Yibai Li Haney, Brittney H Ingram, Jonayah Jackson, Curtis W Marean, Sissi Mattox, Karla de la Cruz Medina, Gebretsadkan Mulubrhan, Keri Porter, Alexis Roberts, Perla Santillan, Alaric Sollenberger, Julia Sponholtz, Jessica Valdes, Lani Wyman, Meklit Yadeta, Sierra Yanny
Although modern humans left Africa multiple times over 100,000 years ago, those broadly ancestral to non-Africans dispersed less than 100,000 years ago1 . Most models hold that these events occurred through green corridors created during humid periods because arid intervals constrained population movements2 . Here we report an archaeological site-Shinfa-Metema 1, in the lowlands of northwest Ethiopia, with Youngest Toba Tuff cryptotephra dated to around 74,000 years ago-that provides early and rare evidence of intensive riverine-based foraging aided by the likely adoption of the bow and arrow...
March 20, 2024: Nature
#7
REVIEW
Tanya E Davison, Sunil Bhar, Yvonne Wells, Patrick J Owen, Emily You, Colleen Doyle, Steven J Bowe, Leon Flicker
BACKGROUND: Depression is common amongst older people residing in long-term care (LTC) facilities. Currently, most residents treated for depression are prescribed antidepressant medications, despite the potential availability of psychological therapies that are suitable for older people and a preference amongst many older people for non-pharmacological treatment approaches. OBJECTIVES: To assess the effect of psychological therapies for depression in older people living in LTC settings, in comparison with treatment as usual, waiting list control, and non-specific attentional control; and to compare the effectiveness of different types of psychological therapies in this setting...
March 19, 2024: Cochrane Database of Systematic Reviews
#8
JOURNAL ARTICLE
Shimin Chang, Shouchao Du, Sunjun Hu, Wenfeng Xiong
OBJECTIVE: To analyze the causes and treatment of off target of the distal interlocking screws when short cephalomeduallry nails were installed through jig-guided targeting device, and to put forward the technical points to prevent off target. METHODS: Retrospective analysis of 9 patients with intertrochanteric fractures treated between July 2014 and June 2023 was conducted, in which off target occurred during the insertion of the distal interlocking screw by jig-guided targeting device in short cephalomedullary nailling (<24 cm)...
March 15, 2024: Chinese Journal of Reparative and Reconstructive Surgery
#9
JOURNAL ARTICLE
Jenny Ferry, Owen Lewis, James Lloyd, Kariem El-Boghdadly, Rachel Kearns, Eric Albrecht, Fernando Altermatt, Balakrishnan Ashokka, Amany E Ayad, Ezzat S Aziz, Lutful Aziz, Balavenkatasubramanian Jagannathan, Noreddine Bouarroudj, Ki Jinn Chin, Alain Delbos, Alex de Gracia, Vivian H Y Ip, Kwesi Kwofie, Sebastian Layera, Clara A Lobo, Mohammed Mohammed, Eleni Moka, Milena Moreno, Bethan Morgan, Arthur Polela, Poupak Rahimzadeh, Suwimon Tangwiwat, Vishal Uppal, Marcelo Vaz Perez, Thomas Volk, Patrick B Y Wong, James S Bowness, Alan J R Macfarlane
BACKGROUND: Regional anaesthesia use is growing worldwide, and there is an increasing emphasis on research in regional anaesthesia to improve patient outcomes. However, priorities for future study remain unclear. We therefore conducted an international research prioritisation exercise, setting the agenda for future investigators and funding bodies. METHODS: We invited members of specialist regional anaesthesia societies from six continents to propose research questions that they felt were unanswered...
March 5, 2024: British Journal of Anaesthesia
#10
JOURNAL ARTICLE
Leyli Senturk, Cagri Gulec, Tugba Sarac Sivrikoz, Hulya Kayserili, Ibrahim Halil Kalelioglu, Sahin Avci, Recep Has, Paul Coucke, Tugba Kalayci, Bernd Wollnik, Birsen Karaman, Guven Toksoy, Sofie Symoens, Gokhan Yigit, Atil Yuksel, Seher Basaran, Beyhan Tuysuz, Umut Altunoglu, Zehra Oya Uyguner
INTRODUCTION: Counseling Osteogenesis Imperfecta (OI) pregnancies is challenging due to the wide range of onsets and clinical severities, from perinatal lethality to milder forms detected later in life. METHODS: Thirty-eight individuals from 36 families were diagnosed with OI through prenatal ultrasonography and/or postmortem clinical and radiographic findings. Genetic analysis was conducted on 26 genes associated with OI in these subjects that emerged over the past 20 years, while some genes were examined progressively, all 26 genes were examined in the group where no pathogenic variations were detected...
February 12, 2024: Fetal Diagnosis and Therapy
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JOURNAL ARTICLE
Christopher Neason, Clint T Miller, Scott D Tagliaferri, Daniel L Belavy, Luana C Main, Jon J Ford, Andrew J Hahne, Steven J Bowe, Patrick J Owen
OBJECTIVES: The relationship between exercise training variables and clinical outcomes in low back pain (LBP) is unclear. The current study aimed to explore the relationship between exercise training parameters and pain intensity in individuals with chronic LBP. METHODS: This study is a secondary analysis of a previously reported randomised controlled trial comparing the effects of general strength and conditioning to motor control exercises and manual therapy. This secondary analysis includes adults with chronic LBP (n=20) randomised to the general strength and conditioning programme only...
2024: BMJ Open Sport & Exercise Medicine
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JOURNAL ARTICLE
Kun Peng, Nicholas Paul Morgan, Ford M Wagner, Thomas Siday, Chelsea Qiushi Xia, Didem Dede, Victor Boureau, Valerio Piazza, Anna Fontcuberta I Morral, Michael B Johnston
Terahertz (THz) radiation will play a pivotal role in wireless communications, sensing, spectroscopy and imaging technologies in the decades to come. THz emitters and receivers should thus be simplified in their design and miniaturized to become a commodity. In this work we demonstrate scalable photoconductive THz receivers based on horizontally-grown InAs nanowires (NWs) embedded in a bow-tie antenna that work at room temperature. The NWs provide a short photoconductivity lifetime while conserving high electron mobility...
January 2, 2024: Nature Communications
#13
JOURNAL ARTICLE
Ju Hee Kim, So Young Lim
OBJECTIVE: To evaluate the long-term outcomes of linear commissuroplasty and linear skin closure with a focus on commissural migration. DESIGN: Retrospective study. PATIENTS: Individuals who underwent transverse facial cleft repair at a single institution between 2004 and 2021. INTERVENTIONS: The disrupted orbicularis oris muscle was reoriented and sutured. A simple linear commissuroplasty technique was used, and the cheek skin was closed linearly without Z-plasty...
December 13, 2023: Cleft Palate-craniofacial Journal
#14
Carmen Polanco Santos, Juana Cordero Garate, Leila Zeinab Khan
Currently, no published cases report concomitant X-linked hypophosphatemia (XLH) and adult hypophosphatasia (HPP). Both diseases share clinical phenotypes that are almost indistinguishable. The correct diagnosis may be missed without a standardized laboratory and genetic testing approach. Pathogenic variants in the phosphate regulating endopeptidases homolog X-linked gene ( PHEX ) and the tissue-nonspecific alkaline phosphatase gene ( ALPL ) are genes that cause XLH and HPP, respectively. We describe a concomitant yet undescribed genetic pathogenic variant in a family...
November 2023: JCEM Case Rep
#15
JOURNAL ARTICLE
Abhigan Babu Shrestha, Sanskriti Chapagain, Tungki Pratama Umar, Randhir Sagar Yadav, Shumneva Shrestha, Kiran Bhandari, Ranjana Sedai, Aryan Poudel, Chadani Mahat, Shreeya Sharma, Alish Bhandari
INTRODUCTION AND IMPORTANCE: Thanatophoric dysplasia is a rare, fatal, and sporadic form of skeletal dysplasia caused by a mutation in fibroblast growth factor receptor 3 (FGFR3). It is characterized by a conical thorax, platyspondyly (flat vertebral bodies), and macrocephaly. This disorder can be diagnosed antenatally as early as 13 weeks of gestation. CASE PRESENTATION: The authors reported a case of thanatophoric dysplasia on USG in a 19 year old young consanguineous female in her second trimester of pregnancy...
November 2023: Annals of Medicine and Surgery
#16
Jia Ying Celeste Yap, Jiin Ying Lim, Anju Bhatia, Vic Khi June Tan, Stephanie Koo, Gen Nishimura, Shahida Moosa, Ai Ling Koh, Ene Choo Tan, Nikki Fong, Saumya Shekhar Jamuar
We report on a female neonate with a clinico-radiological presentation in keeping with a lethal form of prenatal Caffey disease (PCH). She had antenatal and postnatal features of severely bowed long bones, small chest, diaphyseal hyperostosis and polyhydramnios and died shortly after birth. Initial testing excluded COL1A1-related PCH, as an OI gene panel, consisting of COL1A1, COL1A2, CRTAP, and P3H1 genes, was negative. Targeted sequencing using a gene panel was performed and a de novo heterozygous, likely pathogenic variant in IFITM5: c...
October 6, 2023: American Journal of Medical Genetics. Part A
#17
JOURNAL ARTICLE
Yue Kou, Baiyu Yang, Juntao Jiang, He Sun, Rui Zhang, Zhuoyu Li, Qinghong Wang, Quan Shi, Chunmao Chen
Dissolved organic matter (DOM) in point-source petrochemical wastewaters (PCWs) from different operating units is closely linked to the efficiency of wastewater treatment plant (WWTP). However, systematic studies on DOM characters of point-source PCWs and their influences on WWTP influents were seldom conducted. In this study, DOM in three low-salinity point-source PCWs and four high-salinity point-source PCWs at a typical petrochemical plant were comprehensively characterized at a molecular level. Orbitrap mass spectrometry results indicated that point-source PCWs had diverse DOM constituents tightly related to the corresponding petrochemical processes...
September 17, 2023: Environmental Research
#18
JOURNAL ARTICLE
Chien-Chih Chiu, Kai-Chun Cheng, Yi-Hsiung Lin, Chen-Xi He, Yung-Ding Bow, Chia-Yang Li, Chang-Yi Wu, Hui-Min David Wang, Shwu-Jiuan Sheu
Chronic hyperglycemia involves persistent high-glucose exposure and correlates with retinal degeneration. It causes various diseases, including diabetic retinopathy (DR), a major cause of adult vision loss. Most in vitro studies have investigated the damaging short-term effects of high glucose exposure on retinal pigment epithelial (RPE) cells. DR is also a severe complication of diabetes. In this study, we established a model with prolonged high-glucose exposure (15 and 75 mM exogenous glucose for two months) to mimic RPE tissue pathophysiology in patients with hyperglycemia...
August 28, 2023: Archivum Immunologiae et Therapiae Experimentalis
#19
JOURNAL ARTICLE
Maricor J Arlos, Victoria I Arnold, J Seth Bumagat, Jiangboyuan Zhou, Katrina M Cereno, Alison Deas, Kaiping Dai, Norma J Ruecker, Kelly R Munkittrick
Using a novel liquid chromatography-tandem mass spectrometry method with large volume direct injection and quantitation via isotope dilution, we evaluated the presence of 55 organic micropollutants in wastewater effluents, and locations within the Bow River and Elbow River watersheds in and around the city of Calgary, Alberta, Canada. In addition to establishing baseline micropollutant data for water utility operations, our study aimed to enhance our understanding of micropollutant behavior in the urban water cycle, assess the contributions of three wastewater treatment plants (WWTPs) to downstream receiving waters, explain the potential causes of total estrogenicity measured using the yeast-estrogen screen assay (YES), and prioritize a subset of substances for continuous monitoring...
August 6, 2023: Water Research
#20
Koji Obara, Takumi Inomata
The chromosome 18q deletion syndrome is a well-recognized chromosomal aberration characterized by intellectual disability, facial dysmorphism, short stature, microcephaly, cardiac anomalies, such as atrial and ventricular septal defect, and hypotonia; however, the phenotype is highly variable depending on the combination of genes within the chromosomal aberration regions. Thus far, no association was found between 18q deletion and cerebral infarction. Herein, we report a case of 18q deletion syndrome that caused juvenile cerebral infarction...
July 2023: Curēus
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