Cowden syndrome (CS) is a hereditary cancer predisposition syndrome characterised by macrocephaly, mucocutaneous lesions and increased cancer risk in the breast, thyroid, endometrium, kidneys, and colon. We report in thi...Cowden syndrome (CS) is a hereditary cancer predisposition syndrome characterised by macrocephaly, mucocutaneous lesions and increased cancer risk in the breast, thyroid, endometrium, kidneys, and colon. We report in this case report, we present a patient clinically diagnosed with CS in whom genetic analyses yielded normal results. In DNA isolated from a buccal swab rather than a standard blood sample, we identified a known pathogenic PTEN missense variant in mosaic form using whole-genome sequencing. Genetic mosaicism should be considered in patients with suspected monogenic cancer predisposition and negative genetic testing.
Thyrotoxic crisis is a rare, life-threatening condition requiring rapid recognition and close multidisciplinary management. In this case report, we present a 59-year-old woman who developed cardiogenic shock and cardiac...Thyrotoxic crisis is a rare, life-threatening condition requiring rapid recognition and close multidisciplinary management. In this case report, we present a 59-year-old woman who developed cardiogenic shock and cardiac arrest despite intensive therapy. Emergency thyroidectomy was performed with extracorporal membrane oxygenation prepared as rescue support, but postoperative collapse persisted, and she died shortly after. The case underscores the critical importance of early identification and coordinated interdisciplinary care.
This review presents the status of Mindfulness-Based Cognitive Therapy (MBCT) in the treatment of active depression. The theoretical underpinnings of MBCT are outlined, along with potential mediating and moderating facto...This review presents the status of Mindfulness-Based Cognitive Therapy (MBCT) in the treatment of active depression. The theoretical underpinnings of MBCT are outlined, along with potential mediating and moderating factors influencing treatment outcomes. Several randomised controlled trials indicate that MBCT demonstrates efficacy comparable to other evidence-based interventions. However, MBCT is not yet widely available in mental health services in Denmark. Further research is needed to evaluate long-term effects and to identify which patient subgroups may benefit most from MBCT.
Cardiorespiratory fitness (VO₂max) reflects the body's ability to uptake, transport, and utilise oxygen during exercise and is a strong independent predictor of morbidity and mortality. Regular physical activity improves...Cardiorespiratory fitness (VO₂max) reflects the body's ability to uptake, transport, and utilise oxygen during exercise and is a strong independent predictor of morbidity and mortality. Regular physical activity improves cardiovascular and muscular function, increases VO₂max, and reduces disease risk. Maintaining fitness throughout life promotes healthy aging, longevity, and improved quality of life.
It is well known that ionising radiation can cause cataract. In the healthcare sector, fluoroscopic procedures are increasing, and exposure to low-energy X-rays can be substantial. Several cross-sectional studies in inte...It is well known that ionising radiation can cause cataract. In the healthcare sector, fluoroscopic procedures are increasing, and exposure to low-energy X-rays can be substantial. Several cross-sectional studies in interventional cardiology have reported a increased prevalence of posterior subcapsular cataract. However, these studies have notable methodological limitations. There may also be a risk associated with work in radiography and nuclear medicine. Considering the overall body of evidence, this review finds that preventionreducing should be a priority.
A 99-year-old frail woman presented with hip pain, vomiting and abdominal pain. Initial CT was interpreted as normal, and symptoms were attributed to pneumonia. Re-evaluation due to clinical deterioration revealed an obt...A 99-year-old frail woman presented with hip pain, vomiting and abdominal pain. Initial CT was interpreted as normal, and symptoms were attributed to pneumonia. Re-evaluation due to clinical deterioration revealed an obturator hernia with small bowel ileus. The patient was treated laparoscopically with a good outcome. Obturator hernia most often affects elderly, thin women and is difficult to diagnose due to nonspecific symptoms. It is a rare cause of small bowel obstruction, and the case highlights the need for increased awareness and systematic CT review in this patient group to reduce mortality.
Glucocorticoid-induced diabetes (GID) is a frequent and serious side effect of glucocorticoid treatment. Its distinct glucose profile - characterised by afternoon/evening postprandial hyperglycemia and often normal fasti...Glucocorticoid-induced diabetes (GID) is a frequent and serious side effect of glucocorticoid treatment. Its distinct glucose profile - characterised by afternoon/evening postprandial hyperglycemia and often normal fasting blood sugar - necessitates a tailored treatment approach. Effective management requires proactive risk stratification, targeted screening, and early intervention to mitigate serious complications like increased mortality, cardiovascular events, and infections, as argued in this review.
Secondary diabetes develops as a consequence of another specific disease or treatment. Most cases relate to exocrine pancreatic disease, including diabetes after acute or chronic pancreatitis, pan-createctomy, pancreatic...Secondary diabetes develops as a consequence of another specific disease or treatment. Most cases relate to exocrine pancreatic disease, including diabetes after acute or chronic pancreatitis, pan-createctomy, pancreatic cancer, or cystic fibrosis. Diabetes may also occur after solid organ transplantation (post-transplantation diabetes) or be drug-induced. Each form requires tailored treatment and insight into the underlying mechanisms. Evidence on secondary diabetes remains limited, highlighting the need for randomized controlled trials in these patient groups, as argued in this review.
Monogenic diabetes covers single-variant inherited subtypes of diabetes, of which the most prevalent are HNF4A-MODY (MODY1), GCK-MODY (MODY2), HNF1A-MODY (MODY3), HNF1B-MODY (MODY5) and mitochondrial diabetes. Together,...Monogenic diabetes covers single-variant inherited subtypes of diabetes, of which the most prevalent are HNF4A-MODY (MODY1), GCK-MODY (MODY2), HNF1A-MODY (MODY3), HNF1B-MODY (MODY5) and mitochondrial diabetes. Together, they account for about 1% of diabetes cases, but more than 70% of affected individuals are classified with other forms of diabetes. The classical phenotype is young-onset, non-autoimmune diabetes with partially preserved insulin secretion and a family history of diabetes. Correct genetic diagnosis is crucial for family counselling and optimal diabetes management, as reviewed in this article.
Mitochondrial diseases are complex conditions that can affect many organs, and patients may be seen by doctors from various clinical specialities. Currently, treatments are primarily supportive; however, this review find...Mitochondrial diseases are complex conditions that can affect many organs, and patients may be seen by doctors from various clinical specialities. Currently, treatments are primarily supportive; however, this review finds that identifying the underlying genetic cause is becoming increasingly important as new targeted therapies are under development. Additionally, recent advances in reproductive technologies, such as pre-implantation testing and mitochondrial replacement therapy, may offer additional options for affected patients.
Functional somatic disorders (FSD) are common, disabling and best understood within a biopsychosocial framework. Denmark has developed a national stepped-care organisation with clear task distribution across sectors and...Functional somatic disorders (FSD) are common, disabling and best understood within a biopsychosocial framework. Denmark has developed a national stepped-care organisation with clear task distribution across sectors and age groups. Implementation has strengthened access to evidence-based care, particularly for adults, but remains uneven for children and adolescents. This review finds that continued capacity building, competence development and consistent implementation are needed to ensure equal access and quality across regions.
Esophageal cancer is often diagnosed at an advanced stage, and many patients are only eligible for palliative treatment. Dysphagia secondary to local tumor extension is a frequent and debilitating symptom in these patien...Esophageal cancer is often diagnosed at an advanced stage, and many patients are only eligible for palliative treatment. Dysphagia secondary to local tumor extension is a frequent and debilitating symptom in these patients, often requiring intervention to increase quality of life. Management includes radiotherapy and endoscopic modalities such as stenting and argon plasma coagulation. Treatment choice should be individualised and based on patient condition and preferences, tumor location and characteristics, prognosis and prior therapy. This review finds that the optimal palliative approach remains debated.
Sarcoidosis is a granulomatous disease that can affect any organ but almost always involves the lungs (>90%). Extrapulmonary involvement is frequent, particularly affecting the skin, eyes, and lymph nodes, while cardiac,...Sarcoidosis is a granulomatous disease that can affect any organ but almost always involves the lungs (>90%). Extrapulmonary involvement is frequent, particularly affecting the skin, eyes, and lymph nodes, while cardiac, kidney and neurological involvement may also occur. Evaluation and treatment can be complex and often require multidisciplinary collaboration. MRI and PET/CT (with prolonged fasting) are key imaging tools in suspected cardiac sarcoidosis. Many patients do not need immunosuppressive therapy, but this review finds that methotrexate may be first-line therapy when long-term treatment is required.
Analytical interference is a well-known problem in clinical biochemistry. A result can be reported falsely low or high if interference is unidentified and leads to incorrect treatment of the patient. We present a case of...Analytical interference is a well-known problem in clinical biochemistry. A result can be reported falsely low or high if interference is unidentified and leads to incorrect treatment of the patient. We present a case of interference on a CRP result analysed with a point-of-care device in a patient seen by the general practitioner. The interference was assumed to be caused by a plasma M-component detected when investigating the cause of the interference. The case demonstrates the importance of considering analytical interference when interpreting biochemical results in clinical practice.
In this case report, a pregnant woman with diet-controlled gestational diabetes and hyperemesis developed severe euglycemic ketoacidosis (DKA) following administration of betamethasone for threatened preterm labor. Arter...In this case report, a pregnant woman with diet-controlled gestational diabetes and hyperemesis developed severe euglycemic ketoacidosis (DKA) following administration of betamethasone for threatened preterm labor. Arterial blood gas demonstrated metabolic acidosis accompanied by elevated ketones and normoglycemia. Intensive care management using a modified pregnancy-adapted protocol resulted in complete maternal recovery and progression to term. Although uncommon, euglycemic DKA in pregnancy is a potentially life-threatening condition that necessitates prompt recognition and coordinated care.
Interference in blood tests may cause falsely high or low results, potentially leading to misdiagnosis or erroneous treatment. Such interference may be related to antibodies or proteins in the blood, as well as medicatio...Interference in blood tests may cause falsely high or low results, potentially leading to misdiagnosis or erroneous treatment. Such interference may be related to antibodies or proteins in the blood, as well as medications, supplements, or sample handling. While some types of interference are detected automatically by laboratory systems, others remain unrecognised in routine practice. Clinicians should consider interference when laboratory results do not align with the clinical presentation or related test results and involve the laboratory to ensure correct interpretation, as argued in this review.
Occupational diseases may prevent individuals from continuing in their profession. This case report describes a young hairdresser who developed occupational asthma and eczema, leading to loss of work ability in her train...Occupational diseases may prevent individuals from continuing in their profession. This case report describes a young hairdresser who developed occupational asthma and eczema, leading to loss of work ability in her trained profession. A new financial support scheme was recently introduced in Denmark that allows individuals with an acknowledged occupational injury to retrain into a new career when continued work in their occupation is limited or no longer possible. The case highlights the importance of clinicians informing eligible patients about this opportunity.