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. We report the case of a man with nonsyndromic familial nonmedullary thyroid carcinoma, a pituitary adenoma, hyperparathyroidism, an adrenal adenoma, and pancreatic adenocarcinoma. Genetic testing did not reveal mutations in the commonly reported genes associated with MEN syndromes. MEN1 is characterized by endocrine neoplasia in at least 2 of the following glands: pituitary, parathyroid, and the gastro-entero-pancreatic (GEP) tract. Co-occurrence of MEN1 with familial nonmedullary thyroid carcinoma, however, has not been reported in the medical literature. This unique case of MEN1 co-existing in a patient with nonsyndromic familial thyroid carcinoma was not associated with any common MEN syndrome germline mutations.

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, B4GALT7, B3GALT6, and SLC39A13, confirm the diagnosis of spEDS. Hypophosphatasia (HPP) is a heritable disorder caused by a genetic sequence variation in the ALPL gene affecting bone mineralization. Common symptoms in the adult form of HPP are joint pain, muscle hypotonia, and metatarsal fractures. Here we present a case of spEDS and HPP in a patient. Case Report: A 38-year-old woman was evaluated for chronic diffuse joint pain and a low alkaline phosphatase level of 27 U/L (reference, 31-125 U/L). In addition, she presented with a history of hypermobility, limb bowing, and hyperextensible skin, prompting genetic testing for EDS and HPP. The results returned significant for a synonymous sequence variant at c.441G>A in the B4GALT7 gene indicative of spEDS. HPP was clinically diagnosed by a repeat low alkaline phosphatase level of 23 U/L and high vitamin B6 level of 24.4 ng/mL (reference, 2.1-21.7 ng/mL), despite the absence of the ALPL gene sequence variation on genetic testing. Discussion: Remarkable personal and family history of this patient suggest that co-occurrence of EDS and HPP is not merely coincidental. Given the overlapping features of muscle hypotonia and joint pain between the 2 heritable disorders, a possible relationship between the 2 may have been previously overlooked. Conclusion: Further investigation in the relationship and management of the 2 heritable diseases is warranted as enzyme replacement therapy, asfotase alfa, approved for infantile and juvenile onset of HPP may improve the symptoms shared with EDS.

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. Interventions suggested in the literature as well as approaches used by team members when working with terminally ill individuals with BPD are discussed. [Journal of Psychosocial Nursing and Mental Health Services, 57(9), 24-31.].

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. PARTICIPANTS: People with IIH, carers, family and friends, and healthcare professionals participated in two rounds of surveys to identify unique research questions unanswered by current evidence. The most popular 26 uncertainties were presented to stakeholders who then agreed the top 10 topics. RESULTS: The top 10 research priorities for IIH included aetiology of IIH, the pathological mechanisms of headache in IIH, new treatments in IIH, the difference between acute and gradual visual loss, the best ways to monitor visual function, biomarkers of the disease, hormonal causes of IIH, drug therapies for the treatment of headache, weight loss and its role in IIH and finally, the best intervention to treat IIH and when should surgery be performed. CONCLUSIONS: This priority setting encouraged people with direct experience of IIH to collectively identify critical gaps in the existing evidence. The overarching research aspiration was to understand the aetiology and management of IIH.

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 1.9% in our clinic population, higher than the national prevalence. We, as internal medicine specialists, have also successfully treated several patients with Tenncare (the equivalent of Medicaid) and uninsured through improvement in our case identification, follow-up and use of specialty pharmacies and standardized order sets.

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). Responses were collated over a 2-month period from April to May 2015. Patients were asked to quantify responses using a Verbal Rating Score (VRS) 0-10 with 0 being the minimum and 10 the maximum score. RESULTS: 502 patients responded to the survey, of which 463 were analysed for this study. 40% of patients described severe pain during the LP (VRS ≥8), and the median pain score during the LP was 7 (VRS, IQR 5-7). The majority of patients felt they received insufficient pain relief (85%). Levels of anxiety about future LPs were high (median VRS 7, IQR 4-10), with 47% being extremely anxious (VRS ≥8). LPs performed as an emergency were associated with significantly greater pain scores compared with elective procedures (median 7, IQR 5-7 vs 6, IQR 4-8, p=0.012). 10.7% went on to have an X-ray-guided procedure due to failure of the initial LP, and the body mass index was significantly higher in this group (mean kg/m240.3 vs 35.5, p=0.001). Higher LP pain scores (VRS) were significantly associated with poorly informed patients (Spearman's correlation, r=-0.32, p<0.001). Patients felt more informed when the LP was performed by a specialist registrar compared with a junior doctor (median 7 vs 5, p=0.001) or a consultant compared with a junior doctor (median 8 vs 5, p<0.001). CONCLUSIONS: This study was commissioned by the IIH patient group and is the first to document the patient experience of diagnostic LPs in IIH. It shows that the majority of these patients are experiencing significant morbidity from pain and anxiety. Patient experience of LP may be improved through changing clinical practice to include universal detailed preprocedural information, and where possible, avoiding emergency LPs in favour of LPs booked on an elective day-case unit.

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. It is divided into a series of vignettes; each vignette presents a common clinical issue encountered by the palliative care team. Interventions suggested in the literature and those used by team members when working with the patient are discussed.