OpenMed/multicare-articles huggingface dataset:
What endocrinologists can do to prevent cardiovascular complications in adults with Prader-Willi syndrome: Lessons from a case series
Authors: Karlijn Pellikaan, Paula M H van Weijen, Anna G W Rosenberg, Franciska M E Hoekstra, Michiel Vermaak, Peter H N Oomen, Aart J van der Lely, Judith A A E Cuypers, Laura C G de Graaff
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: prader-willi syndrome, cardiovascular abnormalities, cardiovascular system, comorbidity, heart failure
MeSH terms: Cardiovascular Diseases / complications, Cardiovascular Diseases / prevention & control, Diabetes Mellitus, Type 2 / complications, Heart Failure / complications, Prader-Willi Syndrome / complications, Endocrinologists, Humans, Obesity / complications, Obesity / epidemiology, Retrospective Studies

Context:
Prader-Willi syndrome (PWS) is a complex rare genetic syndrome. Mortality in patients with PWS is 3% per year. In nearly half of the patients, the cause of death is of cardiopulmonary origin. Prevention, diagnosis and treatment of cardiovascular (CV) disease in PWS adults is complicated by the behavioral phenotype, reduced ability to express physical complaints, high pain threshold and obesity.
Objective:
To describe the challenges in prevention, diagnosis and treatment of CV disease in PWS adults, in order to increase awareness and improve medical care.
Methods:
Retrospective study of medical records of adults visiting the Dutch PWS reference center.
Results:
We describe the challenges encountered during diagnosis and treatment of four PWS adults with heart failure. All had pre-existent peripheral edema. CV risk factors in these patients were obesity (n=4), type 2 diabetes mellitus (n=2), hypertension (n=2), hypogonadism (n=3) and sleep apnea (n=2). Remarkably, all patients were younger than 40 years during their first cardiac decompensation. All patients presented with progressive shortness of breath and/or orthopnea and progressive pitting edema. In 117 controls with PWS without CV problems, 31% had leg edema.
Conclusion:
Diagnosing CV problems in PWS adults is challenging. Peripheral edema is common in PWS adults without CV morbidity, which makes edema in general a poor marker for heart failure. However, when edema is of the pitting kind and progressive, this is a strong predictor of cardiac decompensation. We provide practical recommendations for diagnosing and treating CV problems in this vulnerable patient population.
Extracranial vertebral artery aneurysm presenting as a chronic cervical mass lesion
Authors: Lampis C Stavrinou, George Stranjalis, Pantelis C Stavrinou, N Bontozoglou, Damianos E Sakas
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Background. Aneurysms of the extracranial vertebral artery are rare and can provide a diagnostic and therapeutic challenge. Methods. We reviewed the clinical history of a patient presenting with cervical radiculopathy, who harboured an extracranial vertebral artery aneurysm eroding the cervical spine. Results. CT Angiography and MR Angiography set the diagnosis, by revealing a left C5-C6 vertebral artery aneurysm with cervical root impingement. Bony reconstruction depicted enlargement of the C6 transverse foramen and a marked enlargement of the C6-C7 intravertebral foramen. The lesion was treated by intravascular proximal vertebral artery occlusion. Conclusions. Extracranial vertebral artery aneurysms require a high index of clinical suspicion. This is the first report of a vertebral artery pseudoaneurysm presenting with bony erosion, which supports a less minacious portrayal of vertebral artery aneurysms.
Case report: Treatment-resistant schizophrenia with auto-aggressive compulsive behavior-Successful management with cariprazine
Authors: Lubova Renemane, Elmars Rancans
Journal: Front Psychiatry (2023)
Keywords: aggressive compulsive behavior, antipsychotics, cariprazine, treatment of schizophrenia, treatment-resistant schizophrenia
MeSH terms: Case Reports

The present case report describes a patient with treatment-resistant schizophrenia and auto-aggressive compulsive behavior who was effectively treated with a third-generation antipsychotic medication, cariprazine. The diagnosis was made 12 years ago, and the patient has been hospitalized 14 times and undergone various antipsychotic treatments. Despite receiving both inpatient and outpatient care, the patient's response to treatment has been only partial, and he has been classified as a treatment-resistant case. Therefore, the patient was switched to cariprazine, which led to significant improvements in both positive and negative symptoms, as well as the complete reduction of auto-aggressive compulsive behavior. These improvements contributed to the patient's overall social functioning and the achievement of remission, while also avoiding polypharmacy and eliminating the metabolic side effects associated with previous treatments.