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Genet Med 2022 Jun 9. Epub 2022 Jun 9.

Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Radiology, Tartu University Hospital, Tartu, Estonia.

Purpose: WNK3 kinase (PRKWNK3) has been implicated in the development and function of the brain via its regulation of the cation-chloride cotransporters, but the role of WNK3 in human development is unknown.

Method: We ascertained exome or genome sequences of individuals with rare familial or sporadic forms of intellectual disability (ID).

Results: We identified a total of 6 different maternally-inherited, hemizygous, 3 loss-of-function or 3 pathogenic missense variants (p. Read More

BMJ Open 2022 Jun 6;12(6):e060664. Epub 2022 Jun 6.

Nephrology, University of California San Francisco, San Francisco, California, USA.

Introduction: The COVID-19 pandemic brought an urgent need to discover novel effective therapeutics for patients hospitalised with severe COVID-19. The Investigation of Serial studies to Predict Your Therapeutic Response with Imaging And moLecular Analysis (ISPY COVID-19 trial) was designed and implemented in early 2020 to evaluate investigational agents rapidly and simultaneously on a phase 2 adaptive platform. This manuscript outlines the design, rationale, implementation and challenges of the ISPY COVID-19 trial during the first phase of trial activity from April 2020 until December 2021. Read More

World J Clin Cases 2022 May;10(13):4207-4213

Department of Pediatric Anesthesiology and Intensive Care Medicine, University Hospital Brno, Medical Faculty of Masaryk University, Brno 62500, Czech Republic.

Background: Congenital cataract, facial dysmorphism, and neuropathy (CCFDN) syndrome is an extremely rare multiorgan disorder. Characteristics include congenital cataracts, facial deformation, extremity deformities, and demyelinating neuropathy. CCFDN syndrome is associated with increased risk during anesthesia including rhabdomyolysis or epileptic seizures. Read More

PLoS One 2022 3;17(6):e0267796. Epub 2022 Jun 3.

Process Development, Ology Bioservices, Alachua, FL, United States of America.

The current global COVID-19 pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has resulted in a public health crisis with more than 168 million cases reported globally and more than 4.5 million deaths at the time of writing. In addition to the direct impact of the disease, the economic impact has been significant as public health measures to contain or reduce the spread have led to country wide lockdowns resulting in near closure of many sectors of the economy. Read More

Pediatr Phys Ther 2022 May 25. Epub 2022 May 25.

Department of Physical Therapy and Rehabilitation (Drs Yigit, Usgu, and Yakut), Faculty of Health Sciences, Hasan Kalyoncu University, Gaziantep, Turkey; Department of Pediatric Genetics (Dr Mutlu Albayrak), Ankara Bilkent City Hospital-Children's Hospital, Ankara, Turkey; Department of Pediatric Neurology (Dr Perk Yücel), Faculty of Medicine, Trakya University, Edirne, Turkey.

Purpose: This case report investigated the effectiveness of an individualized physical therapy program in CALFAN syndrome.

Case Description: A 13-year-old girl participated in physical therapy, which included trunk stabilization, balance training, and functional exercises for 12 weeks.

Assessments: The International Cooperative Ataxia Rating Scale; Trunk Impairment Scale; Pediatric Quality of Life Inventory; Functional Independence Measure for Children; Quick Disability of the Arm, Shoulder, and Hand Questionnaire; 9-Hole Peg Test; and Cobb measurement were used as outcome measures. Read More

Nat Commun 2022 May 19;13(1):2785. Epub 2022 May 19.

Department of Neurology, Washington University School of Medicine, St. Louis, MO, 63110, USA.

Neuronal activity is emerging as a driver of central and peripheral nervous system cancers. Here, we examined neuronal physiology in mouse models of the tumor predisposition syndrome Neurofibromatosis-1 (NF1), with different propensities to develop nervous system cancers. We show that central and peripheral nervous system neurons from mice with tumor-causing Nf1 gene mutations exhibit hyperexcitability and increased secretion of activity-dependent tumor-promoting paracrine factors. Read More

Am J Ophthalmol Case Rep 2022 Jun 12;26:101536. Epub 2022 Apr 12.

Gold Coast University Hospital, 1 Hospital Blvd, Southport, QLD, 4215, Australia.

Purpose: We describe a patient with Eisenmenger syndrome and spontaneous hyphema from iris microhemangioma, two rare entities with a plausible pathophysiological connection.

Observations: A 56-year-old Caucasian female with a background of cyanotic congenital heart disease complicated by Eisenmenger syndrome presented with non-traumatic hyphema and blurred vision. Multiple vascular tufts consistent with iris microhemangiomas were observed around the pupil margins bilaterally, with no iris or retinal neovascularization. Read More

Obstet Med 2022 Mar 25;15(1):62-64. Epub 2020 Dec 25.

Department of Anesthesiology, University of North Carolina - Chapel Hill, Chapel Hill, NC, USA.

Serotonin syndrome is a potentially fatal condition caused by central nervous system serotonergic overactivity. The primary principle of managing serotonin syndrome in pregnancy focuses on discontinuation of offending agents and supportive care. In general, delivery should be avoided pending resolution of serotonin syndrome. Read More

PLoS Med 2022 04 20;19(4):e1003969. Epub 2022 Apr 20.

Centre for Health Services Research, University of Queensland, Brisbane, Australia.

Background: Acute kidney injury (AKI) is one of the most common and significant problems in patients with Coronavirus Disease 2019 (COVID-19). However, little is known about the incidence and impact of AKI occurring in the community or early in the hospital admission. The traditional Kidney Disease Improving Global Outcomes (KDIGO) definition can fail to identify patients for whom hospitalisation coincides with recovery of AKI as manifested by a decrease in serum creatinine (sCr). Read More

J Appl Lab Med 2022 Mar 17. Epub 2022 Mar 17.

Department of Pathology & Immunology, Washington University in St. Louis School of Medicine, St. Louis, MO, USA.

Background: Serological assays for SARS-CoV-2 are important tools for diagnosis in patients with negative RT-PCR testing, pediatric patients with multisystem inflammatory syndrome, and serosurveillance studies. However, lateral flow-based serological assays have previously demonstrated poor analytical and clinical performance, limiting their utility.

Methods: We assessed the ADEXUSDx COVID-19 lateral flow assay for agreement with diagnostic RT-PCR testing using 120 specimens from RT-PCR-positive patients, 77 specimens from symptomatic RT-PCR-negative patients, and 47 specimens obtained prepandemic. Read More

World Neurosurg 2022 Jun 12;162:e468-e474. Epub 2022 Mar 12.

Department of Orthopaedics, Huashan Hospital, Fudan University, Shanghai, China. Electronic address:

Objective: To explore the sagittal radiological parameters related to clinical recovery of patients with acute traumatic central cord syndrome (ATCCS) and determine the diagnostic value of related variables.

Methods: A retrospective review was performed of 104 patients with ATCCS. Six cervical sagittal balance parameters were collected: Cobb angle, T1 slope, neck tilt, thoracic inlet angle (TIA), C2-C7 sagittal vertex axis, T1 slope - C2-C7 Cobb angle. Read More

Spine Deform 2022 Jul 11;10(4):873-881. Epub 2022 Mar 11.

Department of Orthopaedics, The Johns Hopkins Hospital, Baltimore, USA.

Introduction: Spinal deformities present a common finding in patients affected with Marfan syndrome (MFS). More specifically, sagittal spine imbalances reflect the typical finding of such deformities. Observing spino-pelvic radiographs, we focused on eliciting any correlation between the pelvic incidence (PI), sacral slope (SS) and thoracolumbar kyphosis measurements, and categorising them according to a sagittal spinal classification system. Read More

Zhonghua Yi Xue Za Zhi 2022 Mar;102(9):666-670

Department of Orthopaedics, Peking University Third Hospital, Engineering Research Center of Bone and Joint Precision Medicine, Ministry of Education, Beijing Key Laboratory of Spinal Disease Research, Beijing 100191, China (Meng Fanjun works in the Second Department of Orthopaedics, Baoding NO.1 Central Hospital, Baoding 071000, China).

To observe the incidence of Tapia syndrome after posterior cervical spine surgery under oral tracheal intubation general anesthesia and to explore the risk factors for its occurrence. The data of patients suffered from Tapia syndrome after posterior cervical spine surgery under oral tracheal intubation general anesthesia from June 2018 to May 2021 were retrospectively reviewed. The type of procedure, surgeon, age and gender were selected as matching factors, 4 patients without Tapia syndrome were selected as control group for each case. Read More

BMJ Case Rep 2022 Feb 28;15(2). Epub 2022 Feb 28.

Neurosurgery, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Cobb syndrome is a rare neurocutaneous disorder characterised by spinal and cutaneous vascular malformations in a metameric distribution. Managing such cases is a challenge for the interventionists and neurosurgeons as the results are often suboptimal. We describe a case of Cobb syndrome in a young male child who presented clinically with acute paraparesis and lower backache. Read More

J Intensive Care Med 2022 Jul 23;37(7):883-889. Epub 2022 Feb 23.

71541Medstar Georgetown University Medical Center, Pulmonary, Critical Care and Sleep Medicine, Washington DC, 20007.

Objectives: Prone positioning is widely used in mechanically ventilated patients with COVID-19; however, the specific clinical scenario in which the individual is most poised to benefit is not fully established. In patients with COVID-19 respiratory failure requiring mechanical ventilation, how effective is prone positioning in improving oxygenation and can that response be predicted?

Design: This is a retrospective observational study from two tertiary care centers including consecutive patients mechanically ventilated for COVID-19 from 3/1/2020 - 7/1/2021. The primary outcome is improvement in oxygenation as measured by PaO/FiO. Read More

Neurooncol Adv 2022 Jan-Dec;4(1):vdab194. Epub 2021 Dec 31.

Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.

Background: Brain tumor formation and progression are dictated by cooperative interactions between neoplastic and non-neoplastic cells. This stromal dependence is nicely illustrated by tumors arising in the Neurofibromatosis type 1 (NF1) cancer predisposition syndrome, where children develop low-grade optic pathway gliomas (OPGs). Using several authenticated -OPG murine models, we previously demonstrated that murine -OPG growth is regulated by T cell function and microglia Ccl5 production, such that their inhibition reduces tumor proliferation . Read More

J Clin Med 2022 Jan 22;11(3). Epub 2022 Jan 22.

Department of Health System Management, Ariel University, Ariel 4070000, Israel.

Background: A scoliosis prevalence of 94% was reported in the population with Rett syndrome (RTT), with an annual progression rate of 14 to 21° Cobb which may result in pain, loss of sitting balance, deterioration of motor skills, and lung disfunction. This paper describes the efficacy of an intensive conservative individualized physical and postural activity program in preventing scoliosis curvature progression in patients with RTT.

Methods: Twenty subjects diagnosed with RTT and scoliosis were recruited, and an individualized intensive daily physical activity program was developed for each participant. Read More

Clin Lymphoma Myeloma Leuk 2022 Jul 26;22(7):e452-e458. Epub 2021 Dec 26.

Lombardi Comprehensive Cancer Center and MedStar Georgetown University Hospital, Washington, DC.

Background: Venous thromboembolism (VTE) is a common complication in acute COVID-19 and those with hematologic malignancy (HM) may be at an even higher risk. We performed a retrospective analysis of patients with history of HM and acute COVID-19 to evaluate thrombotic and clinical outcomes.

Methods: Patients with COVID-19 were identified by positive SARS-CoV-2 PCR test. Read More

Acta Dermatovenerol Croat 2021 Dec;29(3):169-170

Diego Abbenante, MD, Dermatology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Bologna, Via Massarenti 1, 40100, Bologna, Italy;

Dear Editor, A 45-year-old man presented with a large, dark, keratotic, warty, and friable plaque on the distal posterior aspect of the left leg (Figure 1, a). The patient reported that the lesion was not present at birth but had appeared approximately at the age of three as an erythematous patch that progressively grew over the time. During adolescence, the surface of the lesion became rough and warty and was easily traumatized due to its location, resulting in recurrent bleeding episodes over a period of years. Read More

Cureus 2021 Nov 19;13(11):e19744. Epub 2021 Nov 19.

Department of Orthopaedic Surgery, Gifu University Graduate School of Medicine, Gifu, JPN.

We report a rare case of a rigid spinal deformity with severe pelvic obliquity (PO) resulting from hip ankylosis caused by childhood tuberculosis (TB). A 66-year-old woman presented with left knee pain, chronic low back pain, and fatigability during walking. She presented with leg length discrepancy (LLD) due to an ankylosed right hip joint, severe PO, and secondary lumbar scoliosis. Read More

J Med Genet 2021 Dec 16. Epub 2021 Dec 16.

Department of Orthopaedic Surgery, The University of Tokyo Hospital, Tokyo, Japan.

Background: Among the several musculoskeletal manifestations in patients with Marfan syndrome, spinal deformity causes pain and respiratory impairment and is a great hindrance to patients' daily activities. The present study elucidates the genetic risk factors for the development of severe scoliosis in patients with Marfan syndrome.

Methods: We retrospectively evaluated 278 patients with pathogenic or likely pathogenic variants. Read More

N Engl J Med 2022 Feb 15;386(6):531-543. Epub 2021 Dec 15.

From Novavax, Gaithersburg (L.M.D., G.A., K.S., W.W., I.C., G.M.G., F.D.), the University of Maryland School of Medicine, Baltimore (K.L.K., M.A.M., K.M.N.), the National Institute of Allergy and Infectious Diseases, Bethesda (J.H.), and Walter Reed Army Institute of Research, Silver Spring (J.A.A.) - all in Maryland; FAICIC Clinical Research, Veracruz (A.Q.B.H.), and Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City (G.M.R.-P.) - both in Mexico; Research Your Health, Plano (J.M.A.) and the Texas Center for Drug Development, Houston (V.G.-F.) - both in Texas; M3-Wake Research, Raleigh (W.L.H.), M3-Emerging Medical Research, Durham (D.B.M.), and the University of North Carolina School of Medicine, Chapel Hill (C.L.G.) - all in North Carolina; SIMEDHealth, Gainesville (D.M.D.), and Velocity Clinical Research, Hallandale Beach (B.E.S.) - both in Florida; the University of Nebraska Medical Center, Omaha (D.F.F.); the University of Washington Medical Center (R.S.M., R.W.C., A.L.G.) and Fred Hutchinson Cancer Research Center (L.C.), Seattle, and Lummi Indian Health Center, Bellingham (D.C.L.) - all in Washington; the Atlanta Center for Medical Research, Atlanta (R.A.R.), and IACT Health, Columbus (J.K.K.) - both in Georgia; Velocity Clinical Research-Providence, Warwick, RI (D.L.F.); WR ClinSearch, Chattanooga, TN (M.M.); MedPharmics, Metairie, LA (R.J.J.); and Black Hills Center for American Indian Health, Rapid City, SD (J.A.H.).

Background: NVX-CoV2373 is an adjuvanted, recombinant spike protein nanoparticle vaccine that was shown to have clinical efficacy for the prevention of coronavirus disease 2019 (Covid-19) in phase 2b-3 trials in the United Kingdom and South Africa, but its efficacy had not yet been tested in North America.

Methods: We conducted a phase 3, randomized, observer-blinded, placebo-controlled trial in the United States and Mexico during the first half of 2021 to evaluate the efficacy and safety of NVX-CoV2373 in adults (≥18 years of age) who had not had severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Participants were randomly assigned in a 2:1 ratio to receive two doses of NVX-CoV2373 or placebo 21 days apart. Read More

Childs Nerv Syst 2022 02 22;38(2):361-377. Epub 2021 Nov 22.

Department of Neurosurgery, Rush University Medical Center, Chicago, IL, USA.

Objective: Cervical kyphosis is rare in the pediatric population. It may be syndromic or acquired secondary to laminectomy, neoplasia, or trauma. Regardless, this should be avoided to prevent progressive spinal deformity and neurological deficit. Read More

J ISAKOS 2021 11 28;6(6):367-374. Epub 2021 Jan 28.

Department of Orthopaedic Surgery, Flinders University, North Adelaide, South Australia, Australia.

Cubital tunnel syndrome is a common compressive neuropathy of the upper limb. Surgical decompression is indicated for patients who failed conservative therapy. Decompression in situ has shown to achieve comparable outcomes as decompression with anterior transposition in idiopathic cubital tunnel syndrome. Read More

Ann Rheum Dis 2022 03 17;81(3):406-415. Epub 2021 Nov 17.

Neurology, University of California San Francisco, San Francisco, California, USA.

Objectives: Drug reaction with eosinophilia and systemic symptoms (DRESS) is a severe, delayed hypersensitivity reaction (DHR). We observed DRESS to inhibitors of interleukin 1 (IL-1) or IL-6 in a small group of patients with Still's disease with atypical lung disease. We sought to characterise features of patients with Still's disease with DRESS compared with drug-tolerant Still's controls. Read More

J Clin Med 2021 Oct 20;10(21). Epub 2021 Oct 20.

Department of Orthopaedic Surgery, University Medical Center Utrecht, 3584CX Utrecht, The Netherlands.

To better understand the etiology of idiopathic scoliosis, prospective research into the pre-scoliotic state is required, but this research is practically impossible to carry out in the general population. The use of 'models', such as idiopathic-like scoliosis established in genetically modified animals, may elucidate certain elements, but their translatability to the human situation is questionable. The 22q11. Read More

J Extracell Vesicles 2021 11;10(13):e12165

CellSight Ocular Stem Cell and Regeneration Program, Department of Ophthalmology, Sue Anschutz-Rodgers Eye Center, University of Colorado, School of Medicine, Aurora, Colorado, USA.

Age-related macular degeneration (AMD) is a leading cause of blindness worldwide. Drusen are key contributors to the etiology of AMD and the ability to modulate drusen biogenesis could lead to therapeutic strategies to slow or halt AMD progression. The mechanisms underlying drusen biogenesis, however, remain mostly unknown. Read More

J Arthroplasty 2022 01 30;37(1):69-74. Epub 2021 Aug 30.

Department of Orthopaedic Surgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Background: Spinal disorders and low back pain (LBP) have been associated with worse clinical outcomes of total hip arthroplasty (THA). It is essential to identify spinal factors associated with post-THA LBP improvement. Therefore, we aimed to determine the proportion of patients with improved LBP after THA and to identify the preoperative spinal factors associated with LBP improvement. Read More

Science 2021 Oct 23;374(6566):472-478. Epub 2021 Sep 23.

Activemotif, Inc., 1914 Palomar Oaks Way, Suite 150, Carlsbad, CA 92008, USA.

Antibody-based therapeutics and vaccines are essential to combat COVID-19 morbidity and mortality after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Multiple mutations in SARS-CoV-2 that could impair antibody defenses propagated in human-to-human transmission and spillover or spillback events between humans and animals. To develop prevention and therapeutic strategies, we formed an international consortium to map the epitope landscape on the SARS-CoV-2 spike protein, defining and structurally illustrating seven receptor binding domain (RBD)–directed antibody communities with distinct footprints and competition profiles. Read More

N Engl J Med 2021 Nov 22;385(19):1774-1785. Epub 2021 Sep 22.

From Baylor College of Medicine, Houston (H.M.E.S.), and Javara, The Woodlands (C.K.) - both in Texas; Brigham and Women's Hospital, Boston (L.R.B.), and Moderna, Cambridge (A.A., H.C., W.D., S.H., B.L., D.M., R.P., F.S., J.E.T., H.Z., J.M.) - both in Massachusetts; Meridian Clinical Research, Baton Rouge, LA (B.E., F.E.); University of Miami, Miami (S.D.-L.), and DeLand Clinical Research Unit, DeLand (B.R.) - both in Florida; University of Pittsburgh School of Medicine, Pittsburgh (J.M.M.); Emory University School of Medicine, Atlanta (E.J.A.); University of Colorado School of Medicine, Aurora (T.B.C.); University of California, Los Angeles (J.C.), and Wake Research-Medical Center for Clinical Research, San Diego (L.H.-C.) - both in California; Kaiser Permanente Washington Health Research Institute (L.A.J.), and Fred Hutchinson Cancer Research Center (L.C., P.G., H.J.) - both in Seattle; University of Cincinnati, Cincinnati (C.J.F.); Henry Ford Health System, Detroit (M.Z.); Vitalink Research, Greenville, SC (G.F.); Clinical Research Center of Nevada, Wake Research, Las Vegas (M.L.); and the University of Maryland, College Park (K.M.N.), and the Vaccine Research Center (J.R.M., J.E.L., B.S.G.), National Institute of Allergy and Infectious Diseases (D.F., M.M., L.P.), National Institutes of Health, Bethesda - both in Maryland.

Background: At interim analysis in a phase 3, observer-blinded, placebo-controlled clinical trial, the mRNA-1273 vaccine showed 94.1% efficacy in preventing coronavirus disease 2019 (Covid-19). After emergency use of the vaccine was authorized, the protocol was amended to include an open-label phase. Read More