Volume Articles

Congenital Generalized Lipodystrophy

Josivan Gomes Lima^1*, Marcel Catão Ferreira dos Santos¹, Julliane Tamara Araújo de Melo Campos²

¹Departamento de medicina clínica, disciplina de endocrinologia e metabologia. Hospital Universitário Onofre Lopes, Universidade Federal do Rio Grande do Norte (UFRN), Natal, RN, Brazil

²Faculty of Health Sciences of Trairi, Federal University of Rio Grande do North (UFRN), Natal, RN, Brazil

Congenital Generalized Lipodystrophy (CGL) is a rare and severe autosomal recessive disease. Patients are defective in the storage of body fat and, consequently, they deposit fat in ectopic tissues, mainly liver, and can develop cirrhosis. Insulin resistance is a typical finding, causing diabetes that require high daily doses of insulin. In the state of Rio Grande do Norte, Brazil, we have one of the largest cohorts of patients with CGL. In this article, we review pathophysiology, clinical picture and treatment of this disease.

Gaucher Disease in Ontario, Canada: Clinical Manifestations, Natural Progression, and Treatment Response

Chi Yun Yu¹, Syed Wasim², Dominick Amato^3*

¹University of Toronto, Medical Sciences Building, 1 King's College Cir #3172, Toronto, ON M5S 1A8, Canada

²60 Murray Street, Box 34, 3rd Floor, Room 400, Toronto, ON M5T 3L9, Canada

³Mark Freedman and Judy Jacobs Program for Gaucher Disease, Mount Sinai Hospital, 60 Murray Street, Room L3-415, Toronto, Ontario M5T 3L9, Canada

Gaucher disease (GD) is characterized by a deficiency in lysosomal glucocerebrosidase, resulting in a multisystemic disease with substantial variability in clinical manifestations, disease progression, and treatment response. This is the first study in Canada that examines the epidemiological profile of Gaucher patients, mapping out the GD clinical spectrum in the ethnically diverse province of Ontario.

Study found a prevalence of 1:155,367 (1: 9,853 for Ashkenazi-Jews) type 1 GD adults in Ontario. Splenectomy was associated with improved thrombocytopenia, worsened hyperferritinemia and bone pain, but no effects on anemia, bone mineral density or bone crises. Compared to the non-treatment group, a higher proportion of patients who received enzyme replacement/ substrate reduction therapy (ERT/SRT) presented with anemia, hepatomegaly, bone pain, and bone crises at baseline, suggesting that these presentations may be predictive of subsequent need for treatment. ERT/SRT were effective in improving all hematological, visceral, and skeletal manifestations (except bone mineral density), whereas the non-treatment group remained clinically stable over time (10.88 years) without significant disease progression – thus early use of ERT/SRT may not be necessary in all patients.

This comprehensive analysis summarizes the genotypic and phenotypic heterogeneity of GD, serving as a comparative resource for optimization of care for adult patients.

Thrombocytopenia induced by iodinated contrasts. Utility of gadolinium and intravascular ultrasound

Francisco José Guerrero-Márquez^1*, José María Cubero-Gómez¹, Agustín Guisado-Rasco¹, Luis Salvador Díaz-de la-Llera¹, Mónica Fernández-Quero¹, Manuel Villa-Gil Ortega¹

¹Haemodynamic and Interventional Cardiology, University Hospital Virgen del Rocío, Seville, Spain

Thrombocytopenia induced by iodinated contrasts is a rare adverse effect but with significant morbidity and mortality. The molecular mechanisms that produce this phenomenon are unknown; however, an idiosyncratic reaction after a previous exposure may be part of its etiopathogenesis. The best alternative to these media is gadolinium medium, although its scarce radiopacity and possible adverse effects secondary to its dose result in limitations to its use. The use of intracoronary diagnostic techniques, such as intravascular ultrasound (IVUS), can provide information and reduce the risks inherent in a higher dose of gadolinium. In the absence of experience in the form of literature in this field, the best alternative that we have to guide a coronary intervention in patients with a contraindication to iodinated contrasts is gadolinium medium supported with IVUS.

Lectin-like, oxidized low-density lipoprotein receptor-1-deficient mice show resistance to age-related knee osteoarthritis: A Mini review

Kazuhiko Hashimoto^1*, Yutaka Oda¹, Shigeshi Mori², Koutaro Yamagishi¹, Tsukamoto Ichiro¹, Masao Akagi¹

¹Department of Orthopedic Surgery, Kindai University Hospital, Osaka-Sayama City, Osaka 589-8511, Japan

²Department of Orthopedic Surgery, Kindai University Nara Hospital, Ikoma City, Nara 630-0293, Japan

The lectin-like, oxidized low-density lipoprotein (ox-LDL) receptor-1 (LOX-1)/ox-LDL system contributes to atherosclerosis and thus may play a role in cartilage degeneration. The purpose of this study was to determine whether the LOX-1/ox-LDL system contributes to the pathogenesis of age-related osteoarthritis (OA) in vivo, using LOX-1 knockout (LOX-1 KO) mice. Knee cartilage samples from 6-, 12-, and 18-month-old (n = 10 per group) C57Bl/6 wild-type (WT) and LOX-1 KO mice were compared for OA-related changes with Safranin-O staining. At 12 and 18 months, the OA changes were significantly reduced in LOX-1 KO mice compared to those in WT mice. Moreover, an immunohistological analysis showed that the expression levels of Runt-related transcription factor-2, type-X collagen, and matrix metalloproteinase-13 in the articular chondrocytes were significantly decreased in LOX-1 KO mice compared with those in WT mice. Overall, this study indicates that the LOX-1/ox-LDL system in chondrocytes plays a role in the pathogenesis of age-related knee OA, highlighting a novel potential target for preventing OA progression.

Clinical diagnostic pearls in Familial Dysautonomia

Natan Gadoth^1*

¹The Sackler faculty of medicine, Tel-Aviv University and Maynei Hayeshua Medical Center, Bnei Barak, Israel

Rare genetic disorders are usually a diagnostic challenge mainly due to the complexity of the clinical presentation which is frequently changing with age and progression of the particular disorder. Familial Dysautonomia is a rare and complex multisystem disorder with peculiar but distinct clinical features . Some of those features are unique to this particular syndrome and the one who is familiar with them can quite easily reach the diagnosis without the need for sophisticated laboratory work-up. In this short review those “clinical pearls” will be described in some detail.

Postorgasmic Illness Syndrome: What do we know so far?

Tan Vu Le¹, Hoang Minh Tue Nguyen¹, Wayne J.G. Hellstrom^1*

¹Tulane University School of Medicine, Department of Urology, New Orleans LA, USA

Post-orgasmic illness syndrome (POIS) is rare condition that is characterized by transient flu-like symptoms and cognition disorders that occur shortly after ejaculation and last for 2-7 days. There are about 50 cases of POIS in the literature. The prevalence and incidence of POIS are still unknown due to a paucity of studies. The exact pathogenesis of POIS remains unknown; the most acceptable hypothesis is an autoimmune/allergic process. We made a literature search via PubMed for publications from 2002 to 2018 with the “post orgasmic illness syndrome” medical subject heading term to analyze current data regarding symptoms, burden, pathophysiology, and to discuss potential management options for POIS. POIS is diagnosed by five preliminary diagnostic criteria. It is categorized into two types: primary and secondary. There is the concomitance between POIS and PE. The autoimmune/allergy hypothesis is the most accepted hypothesis explaining POIS pathogenesis. A competing hypothesis involves a disorder of endogenous μ-opioid receptors. Patients with POIS have been symptomatically treated with antihistamines, selective serotonin reuptake inhibitors, and benzodiazepines. A trial of hyposensitization therapy with autologous semen was successful. A trial of nonsteroidal anti-inflammatory medication helped in a single case report but failed to successfully treat other patients with POIS.

Commentary: Individuals affected by Eosinophilic Gastrointestinal Disorders Have Complex Unmet Needs and Experience Barriers to Care

Girish Hiremath^1*, Evan S. Dellon²

¹Division of Pediatric Gastroenterology, Hepatology and Nutrition, Monroe Carell Jr. Children’s Hospital at Vanderbilt, Nashville TN 37232, USA

²Division of Gastroenterology and Hepatology, University of North Carolina School of Medicine, Chapel Hill, NC 27514, USA

Inflammatory Breast Cancer: A Panoramic Overview

Sangjucta Barkataki^1,2, Madhura Joglekar-Javadekar^1,2, Patti Bradfield³, Thomas Murphy¹, Diana Dickson-Witmer^2,4 and Kenneth L. van Golen^1,2*

¹The University of Delaware Department of Biological Sciences, Newark, DE, USA

²The Center for Translational Cancer Research, Newark, DE, USA

³The Inflammatory Breast Cancer Foundation, Newark, DE, USA

⁴The Breast Center at the Helen F. Graham Cancer Center, Christiana Care Health System, Newark, DE 19716-2500, USA

Inflammatory breast cancer (IBC) is a unique breast cancer with a highly virulent course and low 5- and 10-year survival rates. Although IBC only accounts for 1-5% of breast cancers it is estimated to account for 10% of breast cancer deaths annually in the United States. The accuracy of diagnosis and classification of this unique cancer is a major concern within the medical community. Multimodality treatment includes preoperative chemotherapy, mastectomy, and radiation therapy is the therapeutic mainstay and has been shown to improve prognosis. The potential for inaccurate diagnosis and misclassification in cases of IBC is increased by many factors. This includes the misleading initial symptoms of IBC. The early signs of IBC will present in women who have inflammation of the skin of the affected breast, as well as red or purple coloration of the inflamed area. Molecular studies have shown unique signature genes that are hallmarks of IBC. The current article reviews multiple aspects of primary inflammatory breast cancer.

Commentary: Quadriparesis Caused by Lead Poisoning Nine Years after a Gunshot Wound with Retained Bullet Fragments: A Case Report

Emma Nally^1,2, Robert D. Bunning^1*

¹MedStar National Rehabilitation Hospital, 102 Irving St., NW, Washington, DC, 20010, USA

²Georgetown University Hospital, Department of Rehabilitation Medicine, Washington, DC, USA