Case Report abstracts

Objective: To report a rare case of primary hyperparathyroidism presenting with hyperparathyroid crisis due to parathyroid hyperplasia with ectopic glands.Methods: We present the initial clinical manifestations, laboratory results, radiologic and surgical findings, and management in a patient who had hyperparathyroid crisis. The pertinent literature and management options are also reviewed.Results: A 60-year-old female presented with hyperparathyroid crisis requiring preoperative stabilization

A Case of Nonischemic Cardiomyopathy Associated with Autoimmune Polyglandular Syndrome Type III

Thomas I. Hadwen, MD; Katharine Foster, MD; Jane Buchanan, MD; Steven Sutcliffe, MD; Ashim K. Sinha, MD, FACE

Atypical Femoral Fracture in an Osteogenesis Imperfecta Patient Successfully Treated with Teriparatide

Jakob Holm, MD; Pia Eiken, MD, PhD; Lars Hyldstrup, MD, DMSc; Jens-Erik Beck Jensen, MD, PhD

Divergent Gender Identity in Three Siblings with 46XX Karyotype and Severely Virilizing Congenital Adrenal Hyperplasia Caused by a Novel CYP11B1 Mutation

Bassam Bin-Abbas, MD; Doha Al-Humaida, MD; Afaf Al-Sagheir, MD; Ebtesam Qasem, BSc; Mai Almohanna, PhD; Ali S. Alzahrani, MD

Childhood Hypophosphatasia with Homozygous Mutation of ALPL

Supamit Ukarapong, MD; Shankar Srinivas Ganapathy, MD; Jaime Haidet, MD; Gary Berkovitz, MD

A Sporadic Case of Pseudohypoparathyroidism Type 1 and Idiopathic Primary Adrenal Insufficiency Associated with a Novel Mutation in the GNAS1 Gene

Santosh K. Chaubey, MD, FRACP; Kunwarjit S. Sangla, MD, FRACP

     

Thyroid Carcinoma Metastases to Axillary Lymph Nodes: Report of Two Rare Cases of Papillary and Medullary Thyroid Carcinoma and Literature Review

Objective: Axillary lymph nodes (ALNs) are a rare manifestation of thyroid carcinoma; only 16 cases are in the published literature. This study adds two additional patients, one involving differentiated papillary thyroid carcinoma (PTC) and one case involving medullary thyroid carcinoma (MTC). The limited information on this topic in the literature is also reviewed.Methods: In case 1, a 56-year-old female diagnosed in 2004 with stage IV PTC (lung and rib metastases) under-went total

Tablet Levothyroxine (L-T4) Malabsorption Induced by Proton Pump Inhibitor: A Problem that was Solved by Switching to L-T4 in Soft Gel Capsule

Roberto Vita, MD; Salvatore Benvenga, MD

Xanthogranuloma as an Unsuspected Cause of Idiopathic Central Diabetes Insipidus

Shunzhong S. Bao, MD; Richard Rapp, MD

Ectopic Adrenocorticotrophic Hormone Production by Olfactory Neuroblastoma

Nitin Mayur, MD; Rodolfo E. Bordoni, MD; Drew Locandro, MD; Mark McLaughlin, MD

     

In Silico Analysis Identification of a Novel Germ-Line VHL Mutation in a Patient of Malignant Pheochromocytoma

Objective: Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumor syndrome caused by a VHL gene mutation. Here we report a novel mutation of VHL in a patient diagnosed with malignant pheochromocytoma at the age of 17.Methods: A 17-year-old female was referred for paroxysmal supraventricular tachycardia and anemia. She was diagnosed with a left adrenal pheochromocytoma based on biochemical and imaging studies. A left adrenalectomy was performed. Six months after surgery,

A Case of Calciphylaxis in a Patient with Hypoparathyroidism and Normal Renal Function

Blake L. Erdel, MD, Rattan Juneja, MD, Carmella Evans-Molina, MD, PhD

Osteomesopyknosis: A Case Report and Review of Sclerosing Bone Disorders

Ada Lyn M. Yao, MD, Pauline M. Camacho, MD, FACE

Diagnostic Challenge of Pheochromocytoma in a Patient Receiving Levodopa for Parkinson’s Disease

Masanori Shimodaira, MD, PhD; Tomohiro Niwa, MD; Koji Nakajima MD, PhD; Mutsuhiro Kobayashi, MD, PhD

     

Novel Brafi599ins Mutation Identified in a Follicular Variant of Papillary Thyroid Carcinoma: a Molecular Modeling Approach

Objective: BRAF mutations are the most common genetic alteration found in papillary thyroid carcinoma (PTC). Approximately, 90% correspond to BRAF^V600E, although other less common BRAF mutations have been described. The aim of this study was to describe a new mutation on BRAF gene discovered on the previous thyroid cytology of a patient diagnosed with a follicular variant of PTC (FV-PTC).Methods: The mutation was identified by independent cloning of the 2 alleles and direct sequencing in the

Pheochromocytoma and Tetralogy of Fallot: a Rare But Potentially Dangerous Combination

Rajeev Kasaliwal; Vijaya Sarathi; Reshma Pandit; Sweta R. Budyal; Amol Bukan; Harshal Kakade; Varsha S. Jagtap; Anurag R. Lila; Tushar Bandgar; Padmavathy S. Menon; Nalini S. Shah

Hypercalcemia and Acromegaly – Clarifying the connections: A Case Report and Review of the Literature

Pooja Manroa; Subramanian Kannan; Betul Hatipoglu; Angelo Licata

A Case of “Late-Onset” Idiopathic Infantile Hypercalcemia Secondary to Mutations in the Cyp24a1 Gene

Peter Wolf; Thomas Müller-Sacherer; Sabina Baumgartner-Parzer; Yvonne Winhofer; Judit Kroo; Alois Gessl, Anton Luger; Michael Krebs

     

Dermatophytosis caused by Nannizzia nana in two siblings

Background

Nannizzia nana is a zoophilic dermatophyte that affects animals like pigs, boars and, exceptionally, humans, in whom it causes tinea capitis, as well as tinea corporis and onychomycosis.

Micosis infrecuentes

Background

Fungal infections should be suspected in severe wounds that have been contaminated with organic material or soil, even when the patient is immunocompetent. The aim of this article is to contribute to a better understanding and knowledge of the antifungal sensitivity and epidemiology of some rare pathogens that may trigger severe infections.

Infección por Scedosporium apiospermum en una paciente con trasplante renal

Background

Emerging fungi infections, although being not the most frequent, are a cause of major morbidity and mortality in recipients of solid organ transplants. The infections caused by the fungi Scedosporium apiospermum are a paradigmatic example of these.

Biological characteristics and karyotiping of a new isolation method for human adipose mesenchymal stem cells in vitro

Objective

A new method was presented to prepare clinical-grade human adipose-derived stromal stem cells (ASCs) and its safety in vitro, such as biological characteristics and genetic features alteration were investigated.

Activity of antifungal agents alone and in combination against echinocandin-susceptible and -resistant Candida parapsilosis strains

Background

Candida parapsilosis may acquire resistance to echinocandins, a fact that prompts the search for new therapeutic options.

Effect of chronic administration of sildenafil citrate (Viagra) on the histology of the retina and optic nerve of adult male rat

Background

Abnormal vision has been reported by 3% of patients treated with sildenafil citrate (Viagra). Although many men use Viagra for an extended period for treatment of erectile dysfunction, the implications of the long term-daily use of it on the retina and optic nerve are unclear.

Lack of effects of statins on high-density lipoprotein subfractions in HIV-1-infected patients receiving protease inhibitors

Background

We evaluated the effect of 45 days of rosuvastatin or pravastatin treatment on the distribution of HDL subfractions in HIV-1-infected individuals receiving boosted protease inhibitors (PIs) with cardiovascular risk.

Simvastatin and other inhibitors of the enzyme 3-hydroxy-3-methylglutaryl coenzyme A reductase of Ustilago maydis (Um-Hmgr) affect the viability of the fungus,its synthesis of sterols and mating

Background

The enzyme 3-hydroxy-3-methylglutaryl coenzyme A reductase (Hmgr) catalyzes the synthesis of mevalonate, a key compound for the synthesis of cholesterol in humans and ergosterol in fungi. Since the Hmgr enzymes of Saccharomyces cerevisiae, Schizosaccharomyces pombe and Candida glabrata are similar to the Hmgr enzymes of mammals, fungal Hmgr enzymes have been proposed as a model for studying antifungal agents.

Traqueobronquitis obstructiva por Aspergillus fumigatus en un paciente inmunocompetente

Background

Aspergillus tracheobronchitis (ATB) is an uncommon type of invasive pulmonary aspergillosis in which fungal involvement is limited to the tracheobronchial tree. While the more severe forms, such as pseudomembranous and ulcerative ATB, occur almost exclusively in immunocompromised patients, the milder obstructive form may occur in patients without immune deficiency.

Efecto sobre el temor a caer y la funcionalidad de tres programas de intervención. Ensayo clínico aleatorizado

Introduction

The fear of falling has a high prevalence in the community, and intervention programs for this condition are scarce, making it is necessary to strengthen this type of therapy in order to prevent adverse consequences in the elderly population.

Anti-Candida albicans germ tube antibodies reduce in vitro growth and biofilm formation of C. albicans

Background

Invasive candidiasis by Candida albicans is associated with high morbidity and mortality, due in part to the late implementation of an appropriate antifungal therapy hindered by the lack of an early diagnosis.

Antifungal susceptibility of Saccharomyces cerevisiae and therapy in a murine model of disseminated infection

Background

The incidence of systemic infections by Saccharomyces cerevisiae has increased in recent years, especially among immunocompromised patients. Amphotericin B, voriconazole or echinocandins have been used with favorable outcome against systemic infections by this fungus. However, clinical experience is limited and no in vivo studies have been conducted.