Lipoedema is a chronic progressive disorder of adipose tissue leading to an enlargement of lower extremities. It is considered to be rare; however, the prevalence of the disease is underestimated because it is commonly misdiagnosed as obesity or lymphedema and the general awareness is poor. The etiology of the disorder is considered to be multifarious, including genetic inheritance, hormonal imbalance and microcirculation alterations. Diagnosis is mainly based on medical history and physical examination. Management of lipoedema is focused on reducing the symptoms, improving the quality of life and preventing further progression of the disease. The aim of this paper is to raise the awareness of the disease and provide appropriate clinical guidance for the assessment of lipoedema. We searched through the PubMed/MEDLINE database and took into consideration all of the results available as of 6 September, 2020 and outlined the current evidence regarding lipoedema epidemiology, etiology, clinical presentation, differential diagnosis, and management. Better understanding of lipoedema is crucial for establishing an early diagnosis and a proper treatment, which in turn will reduce the psychological and physical implications associated with the disease.
Introduction and purpose: Bartholin's glands are paired structures, playing a significant role in lubricating the vagina through the production of mucus. They are physiologically undetectable, but when their ducts are clogged, the accumulating secretion can lead to various pathologies. The most common are cysts and abscesses, the symptomatic conditions of which are the causes of nearly 2% of gynecological visits annually. Statistically, they most frequently occur in women of childbearing age, however, young age is not a rule. The aim of the study is to summarize the state of knowledge about Bartholin's gland cysts and abscesses, with an indication of the currently used therapies. State of knowledge: In some cases, the course of these pathologies can be asymptomatic, however, the rest of the patients may experience unpleasant symptoms and require treatment. During diagnostics, it is important to carefully collect an interview and conduct a physical examination, because in most cases on this basis it is possible to make an accurate diagnosis. However, in case of doubt, imaging tests can also be used. There may be times when patients with asymptomatic cysts may not require treatment. Nevertheless, choosing the right therapy is sometimes challenging for the clinician due to the potential risk of symptoms recurring. Conclusion: Although there are many different treatments available, the most commonly used appears to be marsupialization or incision and drainage with Word catheter placement. Additionally, an increasing number of articles devoted to the use of the CO2 laser can also be observed, but even it has its drawbacks. For this reason, there is still a need for further research into new methods of treatment that would ensure both good results and high comfort for the patients.
Introduction: Acromegaly is a chronic disease resulting from increased secretion of growth hormone. The main reason of elevated GH concentration is pituitary adenoma that originates from somatotropic cells. As a consequence, several changes in the organism appear such as progressive deformation of the skeleton with enlargement of the skull, hands and feet, growth of soft tissues, bones and internal organs as well as many other systemic complications which are responsible for increased mortality in untreated patients. Case report: A 60-year-old patient was diagnosed with acromegaly due to the pituitary macroadenoma and associated hypopituitarism in the thyroid and gonadotropic axis 4 years ago. The disease was suspected in April 2016 by a rheumatologist, and then confirmed on the basis of hormonal tests in the Endocrinology Clinic (IGF1 - 754.7 ng/ml, N: 77-224; GH - 2.51 ng/ml, no inhibition in OGTT). The imaging examination revealed a pituitary macroadenoma with dimensions of 17x15x19 mm. The medical history revealed the characteristic symptoms of acromegaly like enlargement and deformation of the fingers, enlarged nose, excessive sweating and headaches for the last 12 years. There have been several studies investigating the complications of acromegaly that found abnormalities in the cardiovascular system, metabolic disorders (dyslipidemia, abnormal fasting glycaemia), arthropathies, sigmoid polyps and nodular goiter. Due to the patient's lack of consent to the surgical intervention, treatment with a somatostatin analogue was introduced. During 2-year therapy, the normalization of IGF-1 concentration was not achieved. In October 2018 patient completely abandoned therapy with somatostatin analogue. In 2019 the lack of control of acromegaly was confirmed. During hospitalization in 2020 the uncontrolled acromegaly was stated once again. The patient still does not consent to the surgical procedure to remove pituitary macroadenoma, however, he agreed for systematic re-treatment with a somatostatin analogue. Conclusions: Isolated pharmacological treatment doesn’t always allow for sufficient control of an illness. Effective treatment of acromegaly should consist of surgery as well as conservative treatment. The introductinon of both 2nd generation analogues and GH receptor antagonists in therapeutic programs makes effective pharmacological treatment possible.
Introduction: An aneurysm of the abdominal aorta (AAA) is a local aortic dilatation, most often below the departure of renal arteries. It is becoming an increasingly common health issue amongst people over 65 years of age and poses a direct threat to life. However, early diagnosis, proper treatment and postoperative care significantly increase the chances for longterm survival. The currently available methods of treatment of an abdominal aortic aneurysm are surgical and include classical or endovascular approach. The classical method is an open operation consisting of the replacement of a changed section the aorta for a vascular prosthesis. Endovascular surgery protects the aneurysm from rupture by placing the peripheral vascular stent-graft access to the light of the aneurysm. 731 Aim and method: Comparison of two methods of treatment of abdominal aortic aneurysm: classical and endovascular in patients. We searched through the PubMed database and took into consideration all of the results available as of September 2020 and outlined the current evidence regarding AAA etiology, symptoms, clinical course, diagnosis and treatment. Results and conclusion: Both classical and endovascular methods have similar long-term survival rates. More early complications can be observed in the classical method and late complications in the endovascular one. The choice which method the patient should be treated with should depend on the operators' experience with the method and their individual approach to the patient.
Introduction and purpose: Muscle weakness in newborns, infants and young children can be caused by disorders of the neuromuscular junction (NMJ). Congenital myasthenic syndromes (CMS) are a group of rare genetic diseases whose symptoms resemble the clinical picture of autoimmune myasthenia gravis. There are many mutations that can disrupt the neuromuscular transmission leading to pathology. The diagnosis of CMS is based on genetic testing. The aim of this study is to draw clinicians' attention to the symptoms and present current forms of CMS diagnosis and management. State of knowledge: An increasing number of genetic changes are associated with CMS pathology. They are divided, depending on the location in the NMJ of the encoded protein, into presynaptic, synaptic and postsynaptic. The most common disorder is the mutation of CHRNE, which is responsible for the expression of one of the subunits in the structure of the acetylcholine receptor. Regardless of the type of disease, the characteristic symptom is uncommon fatigue of skeletal muscles. It may present as ptosis of one or both eyelids or gait disturbance. The interview, laboratory tests and EMG are helpful in the diagnosis, but genetic tests play a key role. They can target specific mutations or cover the entire genome comprehensively. Currently used drugs alleviate the course of CMS by increasing the release of acetylcholine or increasing the concentration of acetylcholine in the synaptic cleft. Conclusion: Because of its rarity and variability, many CMS patients may be misdiagnosed. It is important to implement extensive genetic diagnostics and early implementation of treatment. There is a need for long-term studies of CMS cases and implementation of therapies targeted at specific mutations.
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