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Acta Radiol 2021 Apr 14:2841851211008381. Epub 2021 Apr 14.

Department for Radiology and Neuroradiology, University Hospital Schleswig-Holstein, Campus Kiel, Germany.

Background: Soft-tissue sarcomas (STS) are rare malignancies of the soft tissue.

Purpose: To assess whether the magnetic resonance imaging (MRI) configuration of primary STS can predict the configuration of a recurring tumor and whether the MRI configuration of multiple recurrences differs in one and the same patient.

Material And Methods: Thirty-nine patients with histologically proven recurrent STS were included in this retrospective study and underwent pre- and post-treatment MRI. Read More

Radiol Case Rep 2021 Apr 8. Epub 2021 Apr 8.

Department of Radiology, University of Kentucky School of Medicine.

We describe the case of a 65-year-old female with a history of left-sided ductal carcinoma in situ in 2008. Mammography in January 2020 demonstrated calcifications in the previously affected breast. Subsequent stereotactic biopsy results were benign. Read More

World J Nucl Med 2021 Jan-Mar;20(1):121-124. Epub 2020 Dec 12.

Department of Nuclear Medicine and PET CT, Apollo Hospitals, Chennai, Tamil Nadu, India.

Fibromatosis or desmoid fibromatosis is a rare benign neoplasm and develops commonly in the abdominal wall, abdominal cavity, or extra-abdominal sites. The mainstay of treatment is surgery. Chemotherapy and radiotherapy are preferred in cases of inoperable/relapse or a multifocal disease. Read More

Ann Otol Rhinol Laryngol 2021 Apr 9:34894211007242. Epub 2021 Apr 9.

Bobby R. Alford Department of Otolaryngology-Head and Neck Surgery, Baylor College of Medicine, Houston, TX, USA.

Objectives: To report a recalcitrant spontaneous cerebrospinal fluid (CSF) fistula arising from multiple, anatomically-linked lateral skull base defects, and to review the available literature to determine optimal techniques for operative repair of congenital CSF fistulae.

Methods: A patient with recurrent episodes of otologic meningitis was found to have a patent tympanomeningeal fissure, also known as a Hyrtl's fissure, and internal auditory canal (IAC) diverticulum that communicated with the jugular bulb. A systematic review of the literature characterized all reports of spontaneous congenital perilabyrinthine CSF leaks, and all cases of Hyrtl's fissures. Read More

J Neurol Sci 2021 Mar 27:117422. Epub 2021 Mar 27.

Department of Neurology, Alfried Krupp Hospital, Alfried-Krupp-Strasse 21, 45130 Essen, Germany; German Society of Neurology, Reinhardtstrasse 27 C, 10117 Berlin, Germany.

Importance: Primary angiitis of the central nervous system (PACNS) is a rare condition which is often misdiagnosed. In order to avoid mistakes in the management, a step by step approach is necessary.

Observations: The most common presenting symptoms of PACNS are encephalopathy-related cognitive and affective abnormalities, headaches and multifocal symptoms associated with recurrent episodes of ischemia or hemorrhage. Read More

Clin Nucl Med 2021 Apr 5. Epub 2021 Apr 5.

From the Institute of Diagnostic Radiology Department of Neurosurgery Department of Nuclear Medicine, University Hospital Würzburg, Würzburg Nuclear Medicine, Medical Faculty, University of Augsburg, Augsburg Department of Neuropathology, Institute of Pathology, University of Würzburg, Würzburg, Germany.

Purpose: Neurofibromatosis type 2 (NF2) is a genetic disorder that is associated with multiple tumors of the nervous system, and approximately one half of patients present with meningiomas. For patients with multifocal disease, somatostatin receptor-targeted peptide receptor radionuclide therapy (PRRT) might be a suitable systemic treatment option.

Patients And Methods: Between March 2015 and August 2017, 11 NF2 patients (7 females and 4 males; mean age, 39 ± 12 years) with multifocal, progressive meningiomas underwent a median of 4 cycles of PRRT (range, 2-6 cycles). Read More

SA J Radiol 2021 18;25(1):2030. Epub 2021 Feb 18.

Department of Radiology, University of Texas Health, San Antonio, Texas, United States of America.

This report describes a case of chronic recurrent multifocal osteomyelitis (CRMO) in an 11-year-old girl, involving the iliac bone as an initial, solitary site. Atypical imaging features were suspicious of a bone tumour, such as Ewing's sarcoma. Chronic recurrent multifocal osteomyelitis is a great masquerader and can present atypically. Read More

Ophthalmol Retina 2021 Apr 2. Epub 2021 Apr 2.

Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. Electronic address:

Purpose: To highlight recognizable patterns of subretinal fibrosis in the enhanced S-cone syndrome (ESCS).

Design: Retrospective case series.

Participants: 47 patients with subretinal fibrosis identified from 101 clinically diagnosed ESCS patients, confirmed by full field-electroretinography (ERG) (35/47) and/or genetic testing (34/47). Read More

BMJ Case Rep 2021 Apr 2;14(4). Epub 2021 Apr 2.

Department of Respiratory Medicine, Cork University Hospital, Cork, Ireland

Pulmonary alveolar proteinosis (PAP) is a rare pulmonary condition which leads to excessive accumulation of proteinaceous material within the alveoli. Idiopathic pulmonary haemosiderosis (IPH) is another orphan lung disease and results in recurrent alveolar haemorrhage. This case study describes a case of these two rare pathologies occurring together. Read More

Pediatr Rheumatol Online J 2021 Mar 25;19(1):45. Epub 2021 Mar 25.

UCD Centre for Arthritis Research, School of Medicine, University College Dublin, Dublin, Ireland.

Background: Chronic nonbacterial osteomyelitis (CNO) is an autoinflammatory disease affecting bone with considerable phenotypic heterogeneity and variable association with other autoinflammatory conditions. Disease pathogenesis is incompletely understood, and treatment protocols vary between physicians with no clinical treatment guidelines available prior to 2017. Although CNO was previously considered benign, it is now clear that long-term sequelae do occur. Read More

Brain 2021 Mar 23. Epub 2021 Mar 23.

Institute of Clinical Neuroimmunology, University Hospital, Ludwig-Maximilians-Universität Munich, Munich, Germany.

Progressive multifocal leukoencephalopathy (PML) is a severe infection of the central nervous system caused by the polyomavirus JC (JCV) that can occur in multiple sclerosis (MS) patients treated with natalizumab. Clinical management of patients with natalizumab-associated PML is challenging not the least because current imaging tools for the early detection, longitudinal monitoring and differential diagnosis of PML lesions are limited. Here we evaluate whether TSPO positron emission tomography (PET) imaging can be applied to monitor the inflammatory activity of PML lesions over time and differentiate them from MS lesions. Read More

Pediatr Rheumatol Online J 2021 Mar 17;19(1):32. Epub 2021 Mar 17.

UCD Centre for Arthritis Research, School of Medicine, University College Dublin, Dublin, Ireland.

Ann Palliat Med 2021 Feb;10(2):2379-2386

Department of Radiation Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.

The brain is a common metastatic site of small cell lung cancer (SCLC), but systematic treatment options are limited by the blood-brain barrier. Currently, the optimal treatment regimen remains controversial, especially for patients already treated by brain radiotherapy. Anlotinib is a novel oral multitarget tyrosine kinase inhibitor which has shown significant improvement in progression-free survival and overall survival in third-line or beyond therapy of advanced SCLC in a randomized, double-blind phase II study (ALTER1202 trial) based on a Chinese population sample. Read More

Z Rheumatol 2021 Mar 16. Epub 2021 Mar 16.

Abt. für Rheumatologie, klinische Immunologie, Osteologie und Physikalische Medizin, Kerckhoff-Klinik GmbH, Campus Kerckhoff der Justus-Liebig-Universität Gießen, Benekestr. 2-8, 61231, Bad Nauheim, Deutschland.

The SAPHO syndrome is not a single entity but an inhomogeneous, nosologically heterogeneous complex of symptoms with unknown etiology and heterogeneous pathogenesis. Clinically subacute, recurrent or chronic disease processes and a common skin-bone association (skibo disease) can be found. Under the acronym SAPHO, chronically recurrent multifocal osteomyelitis (CRMO) is the most common disease that can occur in youth as well as adolescence. Read More

Turk J Obstet Gynecol 2021 Mar;18(1):65-67

Aydın Adnan Menderes University Faculty of Medicine, Department of Obstetrics and Gynecology, Specialty in Medical Genetics, Aydın, Turkey.

Immune system vulnerability seems to play a significant role in the development and malignant transformation of pre-malignant squamous cell lesions. Emberger syndrome is a condition that affects the immune system, which is caused by GATA2 gene mutations. Our objective was to present the gynecologic expressions of this rare syndrome in our case. Read More

Exp Ther Med 2021 Apr 25;21(4):404. Epub 2021 Feb 25.

Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, P.R. China.

Systemic mastocytosis (SM) is a heterogeneous disease of the bone marrow, which is characterized by the abnormal proliferation and infiltration of mast cells in one or more organs, such as the skin, bone marrow, digestive tract, liver and spleen. Urticaria pigmentosa is a typical but infrequent manifestation of SM. Other clinical presentations are non-specific, varying from pruritus and hypotension to multiple organ dysfunction, which may be lethal when hemodynamic changes occur, such as the sharp decline in blood pressure observed in the present case. Read More

Biomolecules 2021 Feb 28;11(3). Epub 2021 Feb 28.

Stead Family Department of Pediatrics, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA.

Majeed syndrome is a multi-system inflammatory disorder affecting humans that presents with chronic multifocal osteomyelitis, congenital dyserythropoietic anemia, with or without a neutrophilic dermatosis. The disease is an autosomal recessive disorder caused by mutations in , the gene encoding the phosphatidic acid phosphatase LIPIN2. It is exceedingly rare. Read More

J Rheumatol 2021 Mar 1. Epub 2021 Mar 1.

TSS was supported by the University of Iowa's Department of Radiology and Divisions of Pediatric Radiology and Neuroradiology. PJF was supported by NIH/NIAMS R01AR059703 and The Marjorie K. Lamb Professorship at the University of Iowa Carver College of Medicine. T.S. Sato, Clinical Assistant Professor, Divisions of Pediatric Radiology and Neuroradiology, Department of Radiology, Carver College of Medicine, University of Iowa; P.J. Ferguson, Professor, Division of Pediatric Rheumatology, Allergy and Immunology, Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA. Address correspondence to Dr. P. Ferguson, University of Iowa, 200 Hawkins Dr., Iowa City, IA 52240, USA. Email:

From the first description in 1972 as "subacute and chronic recurrent osteomyelitis" to the currently recognized chronic recurrent multifocal osteomyelitis (CRMO) or chronic nonbacterial osteitis (CNO), diagnosis and monitoring of patients with this disease has been and continues to be a challenge While the most common presenting symptom is focal bone pain, its waxing and waning nature tends to contribute to the diagnostic odyssey that many patients must endure. Read More

J Neurol 2021 Feb 26. Epub 2021 Feb 26.

Division of Neuropathology, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA.

We report a 57-year-old man with recurrent meningoencephalitis resulting in bouts of altered consciousness, encephalopathy, tremors, focal seizures, and paraparesis. The neurological manifestations were accompanied by fever and leukocytosis in the absence of other systemic manifestations. MRI abnormalities of the brain, brainstem, spinal cord and meninges and CSF pleocytosis and elevated protein were observed. Read More

Am J Med Genet A 2021 Feb 25. Epub 2021 Feb 25.

Departments of Obstetrics and Gynecology and Pediatrics, University of Wisconsin, Madison, Wisconsin, USA.

The Wisconsin Stillbirth Service Program (WiSSP) provided expert review by a dysmorphologist for community-acquired data on 3137 fetal deaths between 1983 and 2017. Intrinsic fetal causes were consistently identified in about 25% while placental and maternal causes were recognized with increasing frequency as attention was shifted from a primarily fetal to a multifocal approach. Identification of causes increased from 40% to 78% and in about half of cases results of the review altered recurrence risk and/or future pregnancy management. Read More

Biomed Res Int 2021 9;2021:6898093. Epub 2021 Feb 9.

Department of Orthopaedics, Tongde Hospital of Zhejiang Province, Hangzhou, China.

Objective: Chronic nonbacterial osteomyelitis (CNO) is an autoinflammatory bone disorder. Its most severe form is referred to as chronic recurrent multifocal osteomyelitis (CRMO). Currently, the exact molecular pathophysiology of CNO/CRMO remains unknown. Read More

J Oral Maxillofac Surg 2021 Jan 28. Epub 2021 Jan 28.

Professor of Oral and Maxillofacial Surgery, Harvard School of Dental Medicine, Leonard B. Kaban, DMD, MD Chair in Oral and Maxillofacial Surgery, Oral Surgeon-in-Chief, Department of Plastic and Oral Surgery, Boston Children's Hospital, Boston, MA. Electronic address:

Purpose: Chronic recurrent multifocal osteomyelitis (CRMO) is underdiagnosed and underreported because of a lack of awareness among providers. While patients with undiagnosed CRMO often present to oral and maxillofacial surgeons (OMSs) with a chief complaint of mandibular pain, to our knowledge, there is no literature regarding how well informed these providers are about this disease. Survey studies and educational efforts have been carried out among other specialists with the aim of raising awareness. Read More

J Pediatr Urol 2021 Feb 4. Epub 2021 Feb 4.

Hacettepe University, Institute of Health Sciences, Department of Medical and Surgical Research, Ankara, Turkey; Hacettepe University, Faculty of Medicine, Department of Pediatric Surgery, Ankara, Turkey.

Aim: Pheochromocytoma (PCC) and paraganglioma (PGL) are rare tumors in childhood. They are catecholamine secreting tumors and present with signs or symptoms related to their excess. Most common signs and symptoms are hypertension, headache and diaphoresis. Read More

Pediatr Int 2021 Feb 10. Epub 2021 Feb 10.

Department of Clinical Sciences and Community Health, University of Milan, Italy, Milano.

Background: Whole Body Magnetic Resonance Imaging (WBMRI) is a multiregional imaging technique suitable to investigate the extent of multisystemic diseases without exposure to radiation, with a high sensitivity to bone alterations. The aim of our study was to evaluate the role of WBMRI in the workup of children with non-specific musculoskeletal features, and non-indicative laboratory and instrumental data, suspected to have a rheumatologic disease.

Methods: We retrospectively analysed medical records, including laboratory tests and radiological data of 34 children who have been evaluated due to non-specific musculoskeletal manifestations, for which a WBMRI was prescribed. Read More

HPB (Oxford) 2021 Jan 22. Epub 2021 Jan 22.

Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan. Electronic address:

Background: This study aimed to investigate the impact of surgery on outcomes in patients with recurrent biliary tract cancer (BTC) and elucidate factors affecting survival after surgery for this disease.

Methods: A single-center study was undertaken in 178 patients with recurrent BTC, of whom 24 underwent surgery for recurrence, 85 received chemotherapy, and 69 received best supportive care. Then, we carried out a multicenter study in 52 patients undergoing surgery for recurrent BTC (gallbladder cancer, 39%; distal cholangiocarcinoma, 27%; perihilar cholangiocarcinoma, 21%; intrahepatic cholangiocarcinoma, 13%). Read More

Vet Ophthalmol 2021 Mar 5;24(2):203-208. Epub 2021 Feb 5.

Small Animal Clinic, Université de Toulouse, ENVT, Toulouse, France.

This report describes the clinical features, histopathology, and surgical treatment of a case of conjunctival calcification in a 5-month-old female English Setter, referred with a history of recurrent conjunctivitis in the right eye (OD). The ophthalmic findings were limited to multifocal white plaques embedded in a markedly inflamed conjunctiva of the eyelids and the anterior nictitating membrane OD. Calcification was suspected. Read More

Cell Biochem Funct 2021 Feb 1. Epub 2021 Feb 1.

Department of Molecular Life Science, Tokai University School of Medicine, Isehara, Japan.

Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory bone disease that presents with bone destruction and pain. Although genetic studies have identified signalling pathways involving CRMO, molecularly targeted drugs remain unavailable. We used an animal model of CRMO as an in vivo screening system for candidate therapeutic agents. Read More

Eur J Ophthalmol 2021 Jan 26:1120672121990535. Epub 2021 Jan 26.

Department of Ophthalmology, University Hospital Wales, Cardiff, UK.

Introduction: Progressive multifocal leukoencephalopathy (PML) is a rare, lethal, demyelinating disease classically seen in profoundly immunosuppressed individuals. It is caused by intracerebral infection by John Cunningham polyomavirus (JCV). We report a rare case of PML in a man with presumed immunocompetence at presentation experiencing bilateral painless visual impairment. Read More

Rare Tumors 2020 29;12:2036361320975746. Epub 2020 Nov 29.

University of Colorado Anschutz Medical Campus, Aurora, CO, USA.

In this report, we describe a 54-year-old male with cystic retroperitoneal sarcoma extending through the inguinal canal. Patient initially underwent inguinal hernia repair with mesh placement for suspected cord lipoma, after which he developed recurrent loculated retroperitoneal fluid collections refractory to multiple attempts at drain placement and laparotomy. Twenty-nine months after initial surgery, patient was referred to our institution on suspicion of malignancy. Read More

J Endourol Case Rep 2020 29;6(4):483-486. Epub 2020 Dec 29.

Department of Urology and Vall d'Hebron Hospital, Universitat Autònoma de Barcelona, Barcelona, Spain.

Despite concomitant bladder and upper urinary tract cancers are present in 17% of cases, the simultaneous affection of the urethra, bladder, and both upper urinary tracts is extremely rare. Treatment decisions in this setting could be challenging because of the lack of evidence in the literature. A 65-year-old Caucasian man with a history of nine low-grade (LG) and multifocal bladder tumor recurrences during the past 4 years is referred to our department with a newly diagnosed panurothelial carcinoma involving the bladder, urethra, and both upper urinary tracts. Read More