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Clinical Features of Female Taiwanese Carriers with X-linked Chronic Granulomatous Disease from 2004 to 2019.

J Clin Immunol 2021 May 8. Epub 2021 May 8.

Division of Infection, Department of Pediatrics, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan.

Purpose: Female carriers with X-linked chronic granulomatous disease (XL-CGD) who have < 10% reactive oxygen species (ROS) production due to profound X-chromosome inactivation (XCI or lyonization) are more susceptible to infections. We assessed ROS production in Taiwanese female carriers with XL-CGD to investigate whether the level of ROS correlated to their clinical features of infection, autoimmunity, and autoinflammation.

Methods: Clinical course, ROS production, flavocytochrome b558 (Cyto b558) expression, and genetic analysis in carriers were investigated after identifying their index cases between 2004 and 2019. Read More

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A Randomized Phase 1 Safety, Pharmacokinetic and Pharmacodynamic Study of the Novel Myostatin Inhibitor Apitegromab (SRK-015): A Potential Treatment for Spinal Muscular Atrophy.

Adv Ther 2021 May 8. Epub 2021 May 8.

Medpace Clinical Pharmacology, Cincinnati, OH, USA.

Introduction: Apitegromab (SRK-015) is an anti-promyostatin monoclonal antibody under development to improve motor function in patients with spinal muscular atrophy, a rare neuromuscular disease. This phase 1 double-blind, placebo-controlled study assessed safety, pharmacokinetic parameters, pharmacodynamics (serum latent myostatin), and immunogenicity of single and multiple ascending doses of apitegromab in healthy adult subjects.

Methods: Subjects were administered single intravenous ascending doses of apitegromab of 1, 3, 10, 20, 30 mg/kg or placebo, and multiple intravenous ascending doses of apitegromab of 10, 20, 30 mg/kg or placebo. Read More

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Performances of automated digital imaging of Gram-stained slides with on-screen reading against manual microscopy.

Eur J Clin Microbiol Infect Dis 2021 May 8. Epub 2021 May 8.

Bacteriology Laboratory, Division of Laboratory Medicine, Department of Diagnostics, Geneva University Hospitals, 4 rue Gabrielle-Perret-Gentil, 1205, Geneva, Switzerland.

The objective of this study was to evaluate the performances of the automated digital imaging of Gram-stained slides against manual microscopy. Four hundred forty-three identified Gram-stained slides were included in this study. When both methods agreed, we considered the results as correct, and no further examination was carried out. Read More

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Multi-institutional survey of thymic carcinoma patients in Hokushin region.

J Cancer Res Clin Oncol 2021 May 8. Epub 2021 May 8.

Division of Medical Oncology, Cancer Research Institute, Kanazawa University, Kanazawa, Japan.

Background: Thymic carcinoma is a rare neoplasm, and its prognosis is very poor. The purpose of this study was to validate the clinical and epidemiological factors, diagnosis and initial treatment of thymic carcinoma among all patients diagnosed in the registered hospital group.

Methods: We surveyed retrospective data from 152,921 cancer patients in 22 principal hospitals. Read More

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High Output Cardiovascular Physiology and Outcomes in Fetal Diagnosis of Vein of Galen Malformation.

Pediatr Cardiol 2021 May 8. Epub 2021 May 8.

Pediatric Heart Center, Icahn School of Medicine At Mount Sinai, New York, NY, USA.

Vein of Galen aneurysmal malformation (VGAM) is a rare anomaly associated with poor outcomes from high output cardiac failure and neurologic complications. Studies addressing fetal cardiovascular status and outcomes in this population are limited. A single-center retrospective review was conducted on patients with a prenatal diagnosis of VGAM who underwent a fetal echocardiogram between January 2015 and July 2019. Read More

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Surgical repair techniques, functional outcome, and return to sports after apophyseal avulsion fractures of the ischial tuberosity in adolescents.

Int Orthop 2021 May 8. Epub 2021 May 8.

Department Orthopeadic and Sports Trauma Surgery, Sportklinik Stuttgart GmbH, Taubenheimstrasse 8, 70372, Stuttgart, Germany.

Purpose: Among juvenile apophyseal avulsion injuries of the pelvis in adolescents, fractures of the ischial tuberosity are rare but sustainably debilitating. Also because informations on surgical repair options are very sparse and so far limited to general reviews, reports of individual cases or heterogeous small case series, practitioners, patients and their parental environment still feel a comprehensible hesitation regarding operative treatment. Therefore we intended to investigate patient related outcome measurements and return to sports rates after different types of surgical intervention in an own case series, so far unprecendented in its size. Read More

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Multiple skin ulceration and itch-scratch cycle in a diabetic patient.

J Diabetes Investig 2021 May 8. Epub 2021 May 8.

Department of Dermatology, Tokushima University Graduate School of Medical Science, Tokushima, Japan.

Diabetic patients sometimes present generalized pruritus. Severe itching can cause an itch-scratch cycle, resulting in distress and impaired quality of life, but skin ulceration is a rare manifestation. Read More

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The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.

Am J Med Genet A 2021 May 8. Epub 2021 May 8.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

Pycnodysostosis is characterized by short stature, osteosclerosis, acro-osteolysis, increased tendency of fractures, and distinctive dysmorphic features. It is a rare autosomal recessive disease caused by biallelic CTSK mutations. The clinical details of 18 patients from Saudi Arabia were reviewed. Read More

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Histological and immunohistochemical investigation of canine prostate carcinoma with identification of common intraductal carcinoma component.

Vet Comp Oncol 2021 May 7. Epub 2021 May 7.

University of Nottingham, BioDiscovery Institute, Nottingham, UK.

A limited number of species, including men and dogs, spontaneously develop prostate cancer (PC). The histological and molecular relevance of canine PC as a model for the disease in men remains controversial. To address this challenge, this study aimed to assess the histomorphology and expression of basal cell, urothelial and neuroendocrine markers [p63, high molecular weight cytokeratin (HMWCK), Uroplakin 3 (UPIII), neuron-specific enolase (NSE)] in canine PC (n=41). Read More

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Fluid and Electrolyte therapy in Childhood Diabetic Ketoacidosis management - A rationale for new national guideline.

Diabet Med 2021 May 8:e14595. Epub 2021 May 8.

Paediatric Department, Southport and Ormskirk NHS Trust, Ormskirk, UK.

Fluid and electrolyte therapy in childhood diabetic ketoacidosis (DKA) management has been controversial. Previous National Institute for Health and Care Excellence (NICE) 2015 guidance advocated a restricted fluid regimen while more recent guidelines have advocated a more liberal approach to fluid replacement in DKA. At the core of the debate is the need to avoid developing cerebral oedema as a complication. Read More

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SSX C-Terminus is a Useful Diagnostic Biomarker for Spermatocytic Tumour.

Histopathology 2021 May 7. Epub 2021 May 7.

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.

Aims: Spermatocytic tumour (ST) is a rare testicular germ cell neoplasm that can be challenging to diagnose and for which there are few confirmatory biomarkers. Like normal spermatogonia, STs are known to express SSX proteins. Recently, a novel SSX antibody directed against the C-terminus (SSX_CT) of SSX1, SSX2 and SSX4, has emerged as a reliable biomarker for these SSX proteins and synovial sarcoma. Read More

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The prevalence of renal stone and outcomes of conservative treatment in kidney transplantation: A systematic review and meta-analysis.

Urol J 2021 May 8. Epub 2021 May 8.

Urology Research Center, Sina Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Background: Nephrolithiasis is a rare complication in transplanted kidneys and limited information is available about its therapeutic options. This study aimed to review the conservative management of urinary lithiasis and its outcomes in renal transplanted patients.

Methods: A systematic review and meta-analysis of the scientific literature were performed in the Medline, Scopus, and Embase databases. Read More

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Primary pulmonary artery sarcoma versus pulmonary thromboembolism: a multimodal imaging comparison.

J Thromb Thrombolysis 2021 May 7. Epub 2021 May 7.

Gonda Vascular Center, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.

Primary pulmonary artery sarcoma (PPAS) is a rare malignancy that is commonly mistaken for pulmonary embolism due to similarities in clinical presentation and radiographic findings. Distinct radiographic findings to help differentiate between the two diseases are highlighted in the case presented. (1) Several nuances in various imaging modalities have been identified to help distinguish pulmonary artery sarcoma from pulmonary thromboembolic disease. Read More

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Current Approach to the Diagnosis and Treatment of Heterozygote and Homozygous FH Children and Adolescents.

Curr Atheroscler Rep 2021 May 8;23(6):30. Epub 2021 May 8.

Department of Molecular Medicine, Lipid Clinic and Atherosclerosis Prevention Centre, Immunohematology and Transfusion Medicine, Regional Centre for Rare Diseases, Extracorporeal Therapeutic Techniques Unit - Severe Genetic Dyslipidemias, Umberto I Hospital, 'Sapienza' University of Rome, Rome, Italy.

Purpose Of Review: To elucidate the current approach of care in pediatric patients with familial hypercholesterolemia (FH). We sought an answer to the question whether the advances and major changes in lipid management are relevant and apply to children and adolescents.

Recent Findings: Latest research findings clearly demonstrate that lowering cholesterol levels at a young age prevents vascular atherosclerotic changes and decreases cardiovascular events in adulthood and emphasizes the importance of early detection and intervention in the pediatric FH patients group. Read More

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The impact of gender, age, race/ethnicity, and stage on quality of life in a spectrum of cutaneous lymphomas.

Support Care Cancer 2021 May 7. Epub 2021 May 7.

Division of Dermatology, City of Hope, Duarte, USA.

Purpose: Cutaneous lymphomas (CLs) are a group of rare, potentially disfiguring and disabling cancers that can have a significant impact on quality of life (QoL). While previous studies have shown that mycosis fungoides (MF) and Sézary syndrome (SS) impair QoL, the effect of other types of CL on QoL has not been evaluated.

Objective: To determine the impact of disease on QoL in all CL patients and to assess how QoL between the CL sub-types varies by demographic and clinical factors. Read More

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Applicability of pan-TRK immunohistochemistry for identification of NTRK fusions in lung carcinoma.

Sci Rep 2021 May 7;11(1):9785. Epub 2021 May 7.

Diagnostic and Research Institute of Pathology, Medical University of Graz, Neue Stiftingtalstrasse 6, 8010, Graz, Austria.

In the last two decades, various therapies have been introduced for lung carcinoma patients, including tyrosine-kinase inhibitors for different mutations. While some of them are specific to specific tumor types, others, like NTRK1-3 fusions, are found in various solid tumors. The occurrence of an NTRK1,2 or 3 fusion acts as a biomarker for efficient treatment with NTRK inhibitors, irrespectively of the tumor type. Read More

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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Nat Commun 2021 May 7;12(1):2558. Epub 2021 May 7.

Department of Pediatric Neurophysiology AP-HP, Necker Enfants Malades Hospital, Paris University, Paris, France.

GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins (snRNPs), the building blocks of spliceosomes. Here, we have identified 30 affected individuals from 22 unrelated families presenting with developmental delay, hypotonia, and cerebellar ataxia harboring biallelic variants in the GEMIN5 gene. Mutations in GEMIN5 perturb the subcellular distribution, stability, and expression of GEMIN5 protein and its interacting partners in patient iPSC-derived neurons, suggesting a potential loss-of-function mechanism. Read More

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Balanced imitation sustains song culture in zebra finches.

Nat Commun 2021 May 7;12(1):2562. Epub 2021 May 7.

Laboratory of Neurogenetics of Language, The Rockefeller University, New York, NY, USA.

Songbirds acquire songs by imitation, as humans do speech. Although imitation should drive convergence within a group and divergence through drift between groups, zebra finch songs sustain high diversity within a colony, but mild variation across colonies. We investigated this phenomenon by analyzing vocal learning statistics in 160 tutor-pupil pairs from a large breeding colony. Read More

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Effect of nusinersen on respiratory function in paediatric spinal muscular atrophy types 1-3.

Thorax 2021 May 7. Epub 2021 May 7.

Respiratory and Sleep Medicine, Children's Health Queensland Hospital and Health Service, South Brisbane, Queensland, Australia.

Introduction: Nusinersen is used in spinal muscular atrophy (SMA) to improve peripheral muscle function; however, respiratory effects are largely unknown.

Aim: To assess the effects of nusinersen on respiratory function in paediatric SMA during first year of treatment.

Methods: A prospective observational study in paediatric patients with SMA who began receiving nusinersen in Queensland, Australia, from June 2018 to December 2019. Read More

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The curious incident of the cast in the airway.

Thorax 2021 May 7. Epub 2021 May 7.

Respiratory Department, Royal Brompton Hospital, London, UK.

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Lemierre's syndrome.

Pract Neurol 2021 May 7. Epub 2021 May 7.

Department of Neurology, Leeds Centre for Neurosciences, Leeds General Infirmary, Leeds, West Yorkshire, UK.

Lemierre's syndrome is a rare and potentially life-threatening condition that follows an oropharyngeal infection, typically from and usually affects healthy adolescents or young adults. The characteristic features are septic thrombophlebitis of the internal jugular vein and septic embolism leading to multiorgan involvement, commonly the brain, lungs and bones. We report a man with presenting symptoms suggesting hemicrania continua, whose initial imaging showed no features of dural venous sinus or jugular thrombosis. Read More

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IL-15 mediated expansion of rare durable memory T cells following adoptive cellular therapy.

J Immunother Cancer 2021 May;9(5)

Fred Hutchinson Cancer Research Center, Clinical Research Division, Seattle, WA, USA

Background: Synovial sarcoma (SS) and myxoid/round cell liposarcoma (MRCL) are ideal solid tumors for the development of adoptive cellular therapy (ACT) targeting NY-ESO-1, as a high frequency of tumors homogeneously express this cancer-testes antigen. Data from early phase clinical trials have shown antitumor activity after the adoptive transfer of NY-ESO-1-specific T cells. In these studies, persistence of NY-ESO-1 specific T cells is highly correlated with response to ACT, but patients often continue to have detectable transferred cells in their peripheral blood following progression. Read More

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Skeletal system as a rare metastatic site in patients with ovarian carcinoma.

Int J Gynecol Cancer 2021 May 7. Epub 2021 May 7.

Department of Medical Oncology, Istanbul University Institute of Oncology, Istanbul, Turkey.

Objective: To evaluate the frequency and predictors of bone metastasis in patients with ovarian cancer and to determine prognostic factors associated with this finding.

Methods: Patients diagnosed with ovarian cancer between January 2009 and December 2019 were evaluated. Patients with radiologically or pathologically confirmed bone metastasis were included in the study. Read More

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Chronic giardiasis: a rare cause of exocrine pancreatic insufficiency.

BMJ Case Rep 2021 May 7;14(5). Epub 2021 May 7.

Medicine, Jack D Weiler Hospital of the Albert Einstein College of Medicine, Bronx, New York, USA.

Exocrine pancreatic insufficiency (EPI) is a major cause of maldigestion/malabsorption syndromes. It is routinely diagnosed in clinical practice with the use of faecal elastase 1 levels, and pancreatic enzyme replacement therapy continues to be the mainstay of treatment. Numerous primary pancreatic and extrapancreatic causes for EPI have been established. Read More

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Floating harbour syndrome with medial entropion: a rare association and brief review.

BMJ Case Rep 2021 May 7;14(5). Epub 2021 May 7.

Ophthalmology, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, Delhi, New Delhi, India

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Rare case of a duodenal de novo dedifferentiated gastrointestinal stromal tumour.

BMJ Case Rep 2021 May 7;14(5). Epub 2021 May 7.

Department of Medical Oncology, HealthCare Global Enterprises Ltd, Bangalore, Karnataka, India.

Gastrointestinal stromal tumours (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract. Dedifferentiation in these tumours occurs rarely, and when it does occurs most commonly after prolonged treatment with imatinib. We report the case of a 64-year-old man who presented with a mass of 8×7×3 cm dimensions involving the duodenum and head of the pancreas. Read More

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Trimethoprim-sulfamethoxazole-induced refractory hypoglycaemia successfully treated with octreotide.

BMJ Case Rep 2021 May 7;14(5). Epub 2021 May 7.

Division of Endocrinology, McGill University, Montreal, Quebec, Canada.

Trimethoprim-sulfamethoxazole (TMP-SMX) is a commonly prescribed antimicrobial agent for a wide variety of infections. It is generally well tolerated in a majority of patients; however, serious adverse effects have been described with its usage. Hypoglycaemia is an exceedingly rare but potentially life-threatening side effect of this antimicrobial agent due to its sulfonylurea-like effect. Read More

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Novel maxillary enlargement technique in congenital nasal pyriform aperture stenosis: a case report and literature review.

BMJ Case Rep 2021 May 7;14(5). Epub 2021 May 7.

Oral and Maxillofacial Diaseases, Kuopio University Hospital, Kuopio, Finland.

Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of neonate nasal obstruction. Because newborns are natural nasal breathers, urgent treatment may be needed. CNPAS is diagnosed by clinical symptoms and signs, and CT. Read More

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Case to highlight a rare differential diagnosis of necrotising fasciitis in the presence of a stoma: peristomal pyoderma gangrenosum.

BMJ Case Rep 2021 May 7;14(5). Epub 2021 May 7.

Department of Colorectal Surgery, Singapore General Hospital, Singapore.

Peristomal pyoderma gangrenosum (PPG) is a rare clinical entity, which can masquerade as the more common and lethal necrotising fasciitis. The authors present a case of PPG in a 65-year-old woman who underwent robotic abdominoperineal resection for low rectal carcinoma and returned 8 days postoperation for peristomal skin ulcerations and pain, accompanied by leucocytosis; thus, she was treated as per necrotising fasciitis and underwent surgical debridement. Thereafter, her wound continued to worsen despite conventional wound care with vacuum-assisted closure and demonstrated signs of pathergy. Read More

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[Acute localized dissection of the descending thoracic aorta: A diagnostic trap].

Ann Cardiol Angeiol (Paris) 2021 May 4. Epub 2021 May 4.

Vascular Surgery Department, Mohammed VI University Hospital Center, Oujda, Maroc; University Mohammed 1st. Faculty of medicine and pharmacy, Oujda, Maroc. Electronic address:

Localized dissection of the descending thoracic aorta; class 3 of the classification proposed by the European Society of Cardiology; is a short and limited length dissection involving the descending thoracic aorta. It is a rare and unrecognized variant that poses a clinical and radiological diagnostic challenge. Indeed, it is manifested by an aspecific clinical profile represented by the acute aortic syndrome and characterized by a confused radiological aspect that entangled with the other differential diagnoses. Read More

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