MEN1 in a Patient With Nonsyndromic Familial Nonmedullary Thyroid Carcinoma.

Clinical syndromes involving multiple endocrine glands have been well recognized for over a century. Multiple reports describing hereditary multiple endocrine neoplasia (MEN) syndromes involving pituitary, parathyroid, and pancreatic neuroendocrine tumors have been published. Differentiated (nonmedullary) thyroid cancer can also present as a hereditary syndrome with or without a specific genetic predisposition.

A Case of Spondylodysplastic Ehlers-Danlos Syndrome With Comorbid Hypophosphatasia.

Background/objective: Spondylodysplastic Ehlers-Danlos syndrome (spEDS) is a rare subtype of the heritable connective tissue disorder characterized in the 2017 Ehlers-Danlos syndrome (EDS) nosology. Three biallelic mutations, , , and , confirm the diagnosis of spEDS. Hypophosphatasia (HPP) is a heritable disorder caused by a genetic sequence variation in the gene affecting bone mineralization.

Quality improvement in hepatitis C screening and treatment in a primary care resident clinic.

Quality improvement projects are an important part of education for residents and outcome-based projects, and data are required by ACGME. Our resident clinic conducted a quality improvement project regarding screening and treatment for hepatitis C. We improved our screening rate per CDC guidelines and found a prevalence of 1.

Palliative Care for Terminally Ill Individuals With Borderline Personality Disorder.

Individuals with borderline personality disorder (BPD) exhibit persistent patterns of instability in mood, impulse control, self-image, and interpersonal relationships. These issues complicate quality end-of-life care for this population and are of particular concern for hospice and palliative care nurses and health care providers. This article presents case studies of terminally ill individuals with BPD as a series of vignettes that present common clinical issues encountered by the palliative care team.

What are the research priorities for idiopathic intracranial hypertension? A priority setting partnership between patients and healthcare professionals.

Objective: Idiopathic intracranial hypertension (IIH) is under-researched and the aim was to determine the top 10 research priorities for this disease.

Design: A modified nominal group technique was used to engage participants who had experience of IIH.

Setting: This James Lind Alliance Priority Setting Partnership was commissioned by IIH UK, a charity.

Characterising the patient experience of diagnostic lumbar puncture in idiopathic intracranial hypertension: a cross-sectional online survey.

Objectives: Patients with idiopathic intracranial hypertension (IIH) usually require multiple lumbar punctures (LPs) during the course of their disease, and often report significant morbidity associated with the procedure. The aim of this study was to assess the patient's experience of diagnostic LP in IIH.

Design, Methods And Participants: A cross-sectional study of patients with IIH was conducted using an anonymous online survey, with the questions designed in collaboration with IIH UK (the UK IIH charity).

Palliative care for terminally ill individuals with schizophrenia.

Individuals with schizophrenia are often medically undertreated and experience symptoms that interfere with communication and the capacity to make medical decisions. These issues complicate quality end-of-life care for this population and are of particular concern for hospice and palliative care nurses and health care providers. This article presents a case study of a terminally ill patient with schizophrenia.